Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.67436271G>ACA496082847HSD11B2c.687G>A (p.Leu229=)
16g.67436271G>CCA396280241HSD11B2c.687G>C (p.Leu229Phe)
16g.67436271G>TCA396280239HSD11B2c.687G>T (p.Leu229Phe)
16g.67436272G>ACA396280244HSD11B2c.688G>A (p.Gly230Arg)
COSMIC
16g.67436272G>CCA396280246HSD11B2c.688G>C (p.Gly230Arg)
16g.67436272G>TCA396280249HSD11B2c.688G>T (p.Gly230Trp)
16g.67436273G>ACA396280251HSD11B2c.689G>A (p.Gly230Glu)
gnomAD v4 COSMIC
16g.67436273G>CCA396280253HSD11B2c.689G>C (p.Gly230Ala)
16g.67436273G>TCA396280256HSD11B2c.689G>T (p.Gly230Val)
16g.67436274G>ACA496082852HSD11B2c.690G>A (p.Gly230=)
gnomAD v4
16g.67436274G>CCA496082851HSD11B2c.690G>C (p.Gly230=)
16g.67436274G>TCA496082850HSD11B2c.690G>T (p.Gly230=)
16g.67436275G>ACA396280269HSD11B2c.691G>A (p.Ala231Thr)
16g.67436275G>CCA396280263HSD11B2c.691G>C (p.Ala231Pro)
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.67436275G=CA2229310001HSD11B2c.691G= (p.Ala231=)
16g.67436275G>TCA396280265HSD11B2c.691G>T (p.Ala231Ser)
16g.67436275_67436284delinsGCCTATGGAACA2229310000HSD11B2c.691_700delinsGCCTATGGAA (p.Ala231=)
16g.67436276C>ACA396280276HSD11B2c.692C>A (p.Ala231Asp)
16g.67436276C>GCA396280292HSD11B2c.692C>G (p.Ala231Gly)
16g.67436276C>TCA396280295HSD11B2c.692C>T (p.Ala231Val)
16g.67436279_67436287delCA8110721HSD11B2c.695_703del (p.Tyr232_Thr234del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67436277C>ACA496082858HSD11B2c.693C>A (p.Ala231=)
16g.67436277C>GCA496082860HSD11B2c.693C>G (p.Ala231=)
16g.67436277C>TCA496082862HSD11B2c.693C>T (p.Ala231=)
16g.67436278T>ACA396280297HSD11B2c.694T>A (p.Tyr232Asn)
16g.67436278T>CCA396280304HSD11B2c.694T>C (p.Tyr232His)
16g.67436278T>GCA396280300HSD11B2c.694T>G (p.Tyr232Asp)
16g.67436279A>CCA396280312HSD11B2c.695A>C (p.Tyr232Ser)
16g.67436279A>GCA396280314HSD11B2c.695A>G (p.Tyr232Cys)
gnomAD v4
16g.67436279A>TCA396280316HSD11B2c.695A>T (p.Tyr232Phe)
16g.67436280T>ACA396280319HSD11B2c.696T>A (p.Tyr232Ter)
16g.67436280T>CCA8110722HSD11B2c.696T>C (p.Tyr232=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67436280T>GCA396280332HSD11B2c.696T>G (p.Tyr232Ter)
16g.67436280T=CA2229310004HSD11B2c.696T= (p.Tyr232=)
16g.67436281G>ACA396280340HSD11B2c.697G>A (p.Gly233Arg)
16g.67436281G>CCA396280347HSD11B2c.697G>C (p.Gly233Arg)
16g.67436281G>TCA396280348HSD11B2c.697G>T (p.Gly233Ter)
16g.67436282G>ACA282322862HSD11B2c.698G>A (p.Gly233Glu)
dbSNP
16g.67436282G>CCA396280353HSD11B2c.698G>C (p.Gly233Ala)
16g.67436282G=CA2229310007HSD11B2c.698G= (p.Gly233=)
16g.67436282G>TCA396280355HSD11B2c.698G>T (p.Gly233Val)
COSMIC
16g.67436283A=CA2229310009HSD11B2c.699A= (p.Gly233=)
16g.67436283A>CCA496082869HSD11B2c.699A>C (p.Gly233=)
16g.67436283A>GCA496082870HSD11B2c.699A>G (p.Gly233=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67436283A>TCA496082871HSD11B2c.699A>T (p.Gly233=)
16g.67436284delCA496082872HSD11B2c.700del (p.Thr234ProfsTer?)
16g.67436284A=CA2229310012HSD11B2c.700A= (p.Thr234=)
16g.67436284A>CCA396280362HSD11B2c.700A>C (p.Thr234Pro)
16g.67436284A>GCA396280357HSD11B2c.700A>G (p.Thr234Ala)
16g.67436284A>TCA396280360HSD11B2c.700A>T (p.Thr234Ser)
dbSNP gnomAD v2 gnomAD v4
16g.67436285C>ACA396280364HSD11B2c.701C>A (p.Thr234Asn)
16g.67436285C>GCA396280366HSD11B2c.701C>G (p.Thr234Ser)
16g.67436285C>TCA396280368HSD11B2c.701C>T (p.Thr234Ile)
16g.67436286C>ACA496082752HSD11B2c.702C>A (p.Thr234=)
16g.67436286C>GCA496082753HSD11B2c.702C>G (p.Thr234=)
16g.67436286C>TCA496082755HSD11B2c.702C>T (p.Thr234=)
16g.67436287T>ACA396280372HSD11B2c.703T>A (p.Ser235Thr)
gnomAD v4
16g.67436287T>CCA396280376HSD11B2c.703T>C (p.Ser235Pro)
16g.67436287T>GCA396280379HSD11B2c.703T>G (p.Ser235Ala)
16g.67436288C>ACA396280386HSD11B2c.704C>A (p.Ser235Tyr)
16g.67436288C=CA2229310015HSD11B2c.704C= (p.Ser235=)
16g.67436288C>GCA396280389HSD11B2c.704C>G (p.Ser235Cys)
dbSNP gnomAD v4
16g.67436288C>TCA396280390HSD11B2c.704C>T (p.Ser235Phe)
COSMIC
16g.67436289C>ACA496082766HSD11B2c.705C>A (p.Ser235=)
16g.67436289C>GCA496082764HSD11B2c.705C>G (p.Ser235=)
16g.67436289C>TCA496082765HSD11B2c.705C>T (p.Ser235=)
16g.67436290A>CCA396280395HSD11B2c.706A>C (p.Lys236Gln)
ClinVar
16g.67436290A>GCA396280412HSD11B2c.706A>G (p.Lys236Glu)
16g.67436290A>TCA396280416HSD11B2c.706A>T (p.Lys236Ter)
16g.67436291A>CCA396280432HSD11B2c.707A>C (p.Lys236Thr)
16g.67436291A>GCA396280435HSD11B2c.707A>G (p.Lys236Arg)
16g.67436291A>TCA396280421HSD11B2c.707A>T (p.Lys236Ile)
ClinVar
16g.67436292A>CCA396280440HSD11B2c.708A>C (p.Lys236Asn)
COSMIC
16g.67436292A>GCA496082772HSD11B2c.708A>G (p.Lys236=)
16g.67436292A>TCA396280437HSD11B2c.708A>T (p.Lys236Asn)
16g.67436293G>ACA396280447HSD11B2c.709G>A (p.Ala237Thr)
16g.67436293G>CCA396280444HSD11B2c.709G>C (p.Ala237Pro)
16g.67436293G>TCA396280446HSD11B2c.709G>T (p.Ala237Ser)
16g.67436294C>ACA396280448HSD11B2c.710C>A (p.Ala237Glu)
16g.67436294C=CA2229310017HSD11B2c.710C= (p.Ala237=)
16g.67436294C>GCA396280449HSD11B2c.710C>G (p.Ala237Gly)
16g.67436294C>TCA396280452HSD11B2c.710C>T (p.Ala237Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.67436295G>ACA8110723HSD11B2c.711G>A (p.Ala237=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67436295G>CCA496082780HSD11B2c.711G>C (p.Ala237=)
16g.67436295G=CA2229310025HSD11B2c.711G= (p.Ala237=)
16g.67436295G>TCA496082782HSD11B2c.711G>T (p.Ala237=)
16g.67436296G>ACA396280459HSD11B2c.712G>A (p.Ala238Thr)
16g.67436296G>CCA396280458HSD11B2c.712G>C (p.Ala238Pro)
16g.67436296G>TCA396280457HSD11B2c.712G>T (p.Ala238Ser)
16g.67436297C>ACA396280463HSD11B2c.713C>A (p.Ala238Asp)
16g.67436297C>GCA396280466HSD11B2c.713C>G (p.Ala238Gly)
16g.67436297C>TCA396280468HSD11B2c.713C>T (p.Ala238Val)
COSMIC
16g.67436298C>ACA496082788HSD11B2c.714C>A (p.Ala238=)
16g.67436298C=CA2229310027HSD11B2c.714C= (p.Ala238=)
16g.67436298C>GCA496082790HSD11B2c.714C>G (p.Ala238=)
dbSNP gnomAD v2 gnomAD v4
16g.67436298C>TCA8110724HSD11B2c.714C>T (p.Ala238=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67436299G>ACA8110725HSD11B2c.715G>A (p.Val239Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67436299G>CCA396280477HSD11B2c.715G>C (p.Val239Leu)
16g.67436299G=CA2229310029HSD11B2c.715G= (p.Val239=)
16g.67436299G>TCA396280484HSD11B2c.715G>T (p.Val239Leu)
16g.67436300T>ACA396280487HSD11B2c.716T>A (p.Val239Glu)
16g.67436300T>CCA282322891HSD11B2c.716T>C (p.Val239Ala)
dbSNP gnomAD v3 gnomAD v4
16g.67436300T>GCA396280491HSD11B2c.716T>G (p.Val239Gly)
16g.67436300T=CA2229310031HSD11B2c.716T= (p.Val239=)
16g.67436301G>ACA496082794HSD11B2c.717G>A (p.Val239=)
gnomAD v4
16g.67436301G>CCA496082795HSD11B2c.717G>C (p.Val239=)
16g.67436301G>TCA496082796HSD11B2c.717G>T (p.Val239=)
16g.67436302G>ACA396280508HSD11B2c.718G>A (p.Ala240Thr)
gnomAD v4
16g.67436302G>CCA396280519HSD11B2c.718G>C (p.Ala240Pro)
16g.67436302G>TCA396280522HSD11B2c.718G>T (p.Ala240Ser)
16g.67436303C>ACA396280528HSD11B2c.719C>A (p.Ala240Glu)
dbSNP gnomAD v3 gnomAD v4
16g.67436303C=CA2229310033HSD11B2c.719C= (p.Ala240=)
16g.67436303C>GCA396280529HSD11B2c.719C>G (p.Ala240Gly)
gnomAD v4
16g.67436303C>TCA8110726HSD11B2c.719C>T (p.Ala240Val)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67436304G>ACA8110727HSD11B2c.720G>A (p.Ala240=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67436304G>CCA496082799HSD11B2c.720G>C (p.Ala240=)
16g.67436304G=CA2229310037HSD11B2c.720G= (p.Ala240=)
16g.67436304G>TCA496082800HSD11B2c.720G>T (p.Ala240=)
gnomAD v4
16g.67436305C>ACA396280542HSD11B2c.721C>A (p.Leu241Ile)
16g.67436305C>GCA396280546HSD11B2c.721C>G (p.Leu241Val)
16g.67436305C>TCA496082801HSD11B2c.721C>T (p.Leu241=)
gnomAD v4
16g.67436306T>ACA396280553HSD11B2c.722T>A (p.Leu241Gln)
16g.67436306T>CCA396280556HSD11B2c.722T>C (p.Leu241Pro)
16g.67436306T>GCA396280558HSD11B2c.722T>G (p.Leu241Arg)
16g.67436307A>CCA496082802HSD11B2c.723A>C (p.Leu241=)
16g.67436307A>GCA496082803HSD11B2c.723A>G (p.Leu241=)
16g.67436307A>TCA496082804HSD11B2c.723A>T (p.Leu241=)
16g.67436308C>ACA396280563HSD11B2c.724C>A (p.Leu242Ile)
16g.67436308C>GCA396280569HSD11B2c.724C>G (p.Leu242Val)
16g.67436308C>TCA396280567HSD11B2c.724C>T (p.Leu242Phe)
16g.67436309T>ACA396280578HSD11B2c.725T>A (p.Leu242His)
16g.67436309T>CCA396280582HSD11B2c.725T>C (p.Leu242Pro)
16g.67436309T>GCA396280589HSD11B2c.725T>G (p.Leu242Arg)
16g.67436310C>ACA496082807HSD11B2c.726C>A (p.Leu242=)
16g.67436310C=CA2229310041HSD11B2c.726C= (p.Leu242=)
16g.67436310C>GCA496082806HSD11B2c.726C>G (p.Leu242=)
16g.67436310C>TCA8110728HSD11B2c.726C>T (p.Leu242=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67436311A>CCA396280609HSD11B2c.727A>C (p.Met243Leu)
16g.67436311A>GCA396280614HSD11B2c.727A>G (p.Met243Val)
gnomAD v4
16g.67436311A>TCA396280615HSD11B2c.727A>T (p.Met243Leu)
16g.67436312T>ACA396280618HSD11B2c.728T>A (p.Met243Lys)
16g.67436312T>CCA396280620HSD11B2c.728T>C (p.Met243Thr)
ClinVar dbSNP
16g.67436312T>GCA396280624HSD11B2c.728T>G (p.Met243Arg)
16g.67436312T=CA2229310045HSD11B2c.728T= (p.Met243=)
16g.67436313G>ACA396280627HSD11B2c.729G>A (p.Met243Ile)
16g.67436313G>CCA396280629HSD11B2c.729G>C (p.Met243Ile)
dbSNP
16g.67436313G=CA2229310049HSD11B2c.729G= (p.Met243=)
16g.67436313G>TCA396280634HSD11B2c.729G>T (p.Met243Ile)
16g.67436314G>ACA396280655HSD11B2c.730G>A (p.Asp244Asn)
gnomAD v4 COSMIC
16g.67436314G>CCA396280641HSD11B2c.730G>C (p.Asp244His)
16g.67436314G>TCA396280653HSD11B2c.730G>T (p.Asp244Tyr)
16g.67436315A>CCA396280659HSD11B2c.731A>C (p.Asp244Ala)
16g.67436315A>GCA396280662HSD11B2c.731A>G (p.Asp244Gly)
16g.67436315A>TCA396280667HSD11B2c.731A>T (p.Asp244Val)
16g.67436316C>ACA396280669HSD11B2c.732C>A (p.Asp244Glu)
16g.67436316C>GCA396280671HSD11B2c.732C>G (p.Asp244Glu)
16g.67436316C>TCA496082817HSD11B2c.732C>T (p.Asp244=)
16g.67436317A>CCA396280675HSD11B2c.733A>C (p.Thr245Pro)
16g.67436317A>GCA396280676HSD11B2c.733A>G (p.Thr245Ala)
16g.67436317A>TCA396280678HSD11B2c.733A>T (p.Thr245Ser)
16g.67436318C>ACA396280682HSD11B2c.734C>A (p.Thr245Lys)
16g.67436318C=CA2229310051HSD11B2c.734C= (p.Thr245=)
16g.67436318C>GCA396280684HSD11B2c.734C>G (p.Thr245Arg)
16g.67436318C>TCA396280687HSD11B2c.734C>T (p.Thr245Ile)
dbSNP gnomAD v3 gnomAD v4
16g.67436319A=CA2229310056HSD11B2c.735A= (p.Thr245=)
16g.67436319A>CCA496082823HSD11B2c.735A>C (p.Thr245=)
16g.67436319A>GCA496082821HSD11B2c.735A>G (p.Thr245=)
dbSNP gnomAD v3 gnomAD v4
16g.67436319A>TCA496082820HSD11B2c.735A>T (p.Thr245=)
16g.67436319dupCA623119599HSD11B2c.735dup (p.Phe246IlefsTer4)
ClinVar dbSNP gnomAD v2
16g.67436320T>ACA8110729HSD11B2c.736T>A (p.Phe246Ile)
dbSNP ExAC gnomAD v2
16g.67436320T>CCA396280724HSD11B2c.736T>C (p.Phe246Leu)
16g.67436320T>GCA396280721HSD11B2c.736T>G (p.Phe246Val)
16g.67436320T=CA2229310062HSD11B2c.736T= (p.Phe246=)
16g.67436321dupCA623119600HSD11B2c.737dup (p.Ser247GlnfsTer3)
dbSNP gnomAD v2 gnomAD v4
16g.67436321T>ACA396280731HSD11B2c.737T>A (p.Phe246Tyr)
16g.67436321T>CCA396280740HSD11B2c.737T>C (p.Phe246Ser)
16g.67436321T>GCA396280741HSD11B2c.737T>G (p.Phe246Cys)
16g.67436322C>ACA396280743HSD11B2c.738C>A (p.Phe246Leu)
16g.67436322C>GCA396280744HSD11B2c.738C>G (p.Phe246Leu)
16g.67436322C>TCA496082829HSD11B2c.738C>T (p.Phe246=)
gnomAD v4
16g.67436323A>CCA396280746HSD11B2c.739A>C (p.Ser247Arg)
16g.67436323A>GCA396280748HSD11B2c.739A>G (p.Ser247Gly)
16g.67436323A>TCA396280750HSD11B2c.739A>T (p.Ser247Cys)
16g.67436324G>ACA396280756HSD11B2c.740G>A (p.Ser247Asn)
16g.67436324G>CCA396280760HSD11B2c.740G>C (p.Ser247Thr)
16g.67436324G>TCA396280763HSD11B2c.740G>T (p.Ser247Ile)
16g.67436325C>ACA396280765HSD11B2c.741C>A (p.Ser247Arg)
16g.67436325C>GCA396280771HSD11B2c.741C>G (p.Ser247Arg)
16g.67436325C>TCA496082838HSD11B2c.741C>T (p.Ser247=)
gnomAD v4
16g.67436326T>ACA396280777HSD11B2c.742T>A (p.Cys248Ser)
16g.67436326T>CCA396280774HSD11B2c.742T>C (p.Cys248Arg)
16g.67436326T>GCA396280773HSD11B2c.742T>G (p.Cys248Gly)
16g.67436327G>ACA396280780HSD11B2c.743G>A (p.Cys248Tyr)
16g.67436327G>CCA396280783HSD11B2c.743G>C (p.Cys248Ser)
16g.67436327G>TCA396280787HSD11B2c.743G>T (p.Cys248Phe)
16g.67436328T>ACA396280792HSD11B2c.744T>A (p.Cys248Ter)
16g.67436328T>CCA496082841HSD11B2c.744T>C (p.Cys248=)
16g.67436328T>GCA396280796HSD11B2c.744T>G (p.Cys248Trp)
16g.67436329G>ACA396280801HSD11B2c.745G>A (p.Glu249Lys)
ClinVar gnomAD v4
16g.67436329G>CCA396280818HSD11B2c.745G>C (p.Glu249Gln)
16g.67436329G>TCA396280823HSD11B2c.745G>T (p.Glu249Ter)
16g.67436330A>CCA396280829HSD11B2c.746A>C (p.Glu249Ala)
16g.67436330A>GCA396280833HSD11B2c.746A>G (p.Glu249Gly)
16g.67436330A>TCA396280835HSD11B2c.746A>T (p.Glu249Val)
16g.67436331A>CCA396280836HSD11B2c.747A>C (p.Glu249Asp)
16g.67436331A>GCA496082849HSD11B2c.747A>G (p.Glu249=)
16g.67436331A>TCA396280837HSD11B2c.747A>T (p.Glu249Asp)
16g.67436331_67436334delinsACTCCA2229310065HSD11B2c.747_750delinsACTC (p.Glu249=)
16g.67436332C>ACA396280842HSD11B2c.748C>A (p.Leu250Ile)
16g.67436332C>GCA396280845HSD11B2c.748C>G (p.Leu250Val)
16g.67436332C>TCA396280838HSD11B2c.748C>T (p.Leu250Phe)
16g.67436334_67436336delCA723037089HSD11B2c.750_752del (p.Leu251del)
dbSNP gnomAD v3 gnomAD v4
16g.67436333T>ACA396280848HSD11B2c.749T>A (p.Leu250His)
16g.67436333T>CCA8110730HSD11B2c.749T>C (p.Leu250Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67436333T>GCA396280852HSD11B2c.749T>G (p.Leu250Arg)
16g.67436333T=CA2229310069HSD11B2c.749T= (p.Leu250=)
16g.67436333_67436336delinsCCTCCA2695223625HSD11B2c.749_752delinsCCTC (p.Leu250_Leu251delinsProSer)
16g.67436334C>ACA496082855HSD11B2c.750C>A (p.Leu250=)
16g.67436334C=CA2229310072HSD11B2c.750C= (p.Leu250=)
16g.67436334C>GCA496082856HSD11B2c.750C>G (p.Leu250=)
16g.67436334C>TCA8110731HSD11B2c.750C>T (p.Leu250=)
dbSNP ExAC gnomAD v4
16g.67436335C>ACA396280859HSD11B2c.751C>A (p.Leu251Ile)
16g.67436335C>GCA396280860HSD11B2c.751C>G (p.Leu251Val)
16g.67436335C>TCA396280865HSD11B2c.751C>T (p.Leu251Phe)
16g.67436336T>ACA396280870HSD11B2c.752T>A (p.Leu251His)
16g.67436336T>CCA396280875HSD11B2c.752T>C (p.Leu251Pro)
16g.67436336T>GCA396280878HSD11B2c.752T>G (p.Leu251Arg)
16g.67436337T>ACA496082863HSD11B2c.753T>A (p.Leu251=)
16g.67436337T>CCA496082867HSD11B2c.753T>C (p.Leu251=)
16g.67436337T>GCA496082865HSD11B2c.753T>G (p.Leu251=)
16g.67436338C>ACA396280882HSD11B2c.754C>A (p.Pro252Thr)
16g.67436338C>GCA396280884HSD11B2c.754C>G (p.Pro252Ala)
16g.67436338C>TCA396280889HSD11B2c.754C>T (p.Pro252Ser)
gnomAD v4
16g.67436339C>ACA396280908HSD11B2c.755C>A (p.Pro252His)
16g.67436339C>GCA396280940HSD11B2c.755C>G (p.Pro252Arg)
16g.67436339C>TCA396280936HSD11B2c.755C>T (p.Pro252Leu)
16g.67436340C>ACA496082873HSD11B2c.756C>A (p.Pro252=)
16g.67436340C=CA2229310077HSD11B2c.756C= (p.Pro252=)
16g.67436340C>GCA8110732HSD11B2c.756C>G (p.Pro252=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67436340C>TCA496082874HSD11B2c.756C>T (p.Pro252=)
gnomAD v4
16g.67436341T>ACA396280952HSD11B2c.757T>A (p.Trp253Arg)
16g.67436341T>CCA396280956HSD11B2c.757T>C (p.Trp253Arg)
16g.67436341T>GCA396280962HSD11B2c.757T>G (p.Trp253Gly)
16g.67436341T=CA2229310080HSD11B2c.757T= (p.Trp253=)
16g.67436342G>ACA396280964HSD11B2c.758G>A (p.Trp253Ter)
dbSNP
16g.67436342G>CCA396280968HSD11B2c.758G>C (p.Trp253Ser)
gnomAD v4
16g.67436342G>TCA396280974HSD11B2c.758G>T (p.Trp253Leu)
16g.67436347dupCA623119601HSD11B2c.763dup (p.Val255GlyfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.67436347delCA645586895HSD11B2c.763del (p.Val255SerfsTer16)
gnomAD v4 COSMIC
16g.67436343G>ACA396280977HSD11B2c.759G>A (p.Trp253Ter)
COSMIC
16g.67436343G>CCA396280978HSD11B2c.759G>C (p.Trp253Cys)
dbSNP gnomAD v2 gnomAD v4
16g.67436343G=CA2229310086HSD11B2c.759G= (p.Trp253=)
16g.67436343G>TCA396280982HSD11B2c.759G>T (p.Trp253Cys)
16g.67436344G>ACA396280987HSD11B2c.760G>A (p.Gly254Arg)
16g.67436344G>CCA396280996HSD11B2c.760G>C (p.Gly254Arg)
16g.67436344G=CA2229310091HSD11B2c.760G= (p.Gly254=)
16g.67436344G>TCA396280984HSD11B2c.760G>T (p.Gly254Trp)
dbSNP
16g.67436345G>ACA396281000HSD11B2c.761G>A (p.Gly254Glu)
dbSNP gnomAD v2 gnomAD v4
16g.67436345G>CCA396281005HSD11B2c.761G>C (p.Gly254Ala)
16g.67436345G=CA2229310095HSD11B2c.761G= (p.Gly254=)
16g.67436345G>TCA396281008HSD11B2c.761G>T (p.Gly254Val)
16g.67436346G>ACA496082881HSD11B2c.762G>A (p.Gly254=)
16g.67436346G>CCA496082882HSD11B2c.762G>C (p.Gly254=)
gnomAD v4
16g.67436346G=CA2229310097HSD11B2c.762G= (p.Gly254=)
16g.67436346G>TCA496082884HSD11B2c.762G>T (p.Gly254=)
dbSNP
16g.67436347G>ACA396281016HSD11B2c.763G>A (p.Val255Ile)
dbSNP gnomAD v4
16g.67436347G>CCA396281031HSD11B2c.763G>C (p.Val255Leu)
16g.67436347G=CA2229310099HSD11B2c.763G= (p.Val255=)
16g.67436347G>TCA396281035HSD11B2c.763G>T (p.Val255Phe)
dbSNP gnomAD v4
16g.67436348T>ACA396281039HSD11B2c.764T>A (p.Val255Asp)
16g.67436348T>CCA396281043HSD11B2c.764T>C (p.Val255Ala)
16g.67436348T>GCA396281048HSD11B2c.764T>G (p.Val255Gly)
16g.67436349C>ACA496082886HSD11B2c.765C>A (p.Val255=)
16g.67436349C=CA2229310103HSD11B2c.765C= (p.Val255=)
16g.67436349C>GCA496082887HSD11B2c.765C>G (p.Val255=)
16g.67436349C>TCA282322908HSD11B2c.765C>T (p.Val255=)
dbSNP
16g.67436350A>CCA396281051HSD11B2c.766A>C (p.Lys256Gln)
16g.67436350A>GCA396281053HSD11B2c.766A>G (p.Lys256Glu)
16g.67436350A>TCA396281058HSD11B2c.766A>T (p.Lys256Ter)
16g.67436351A>CCA396281064HSD11B2c.767A>C (p.Lys256Thr)
16g.67436351A>GCA396281066HSD11B2c.767A>G (p.Lys256Arg)
16g.67436351A>TCA396281071HSD11B2c.767A>T (p.Lys256Met)
16g.67436352G>ACA496082890HSD11B2c.768G>A (p.Lys256=)
16g.67436352G>CCA396281078HSD11B2c.768G>C (p.Lys256Asn)
gnomAD v4
16g.67436352G>TCA396281091HSD11B2c.768G>T (p.Lys256Asn)
16g.67436353G>ACA396281095HSD11B2c.769G>A (p.Val257Ile)
dbSNP gnomAD v4
16g.67436353G>CCA396281098HSD11B2c.769G>C (p.Val257Leu)
16g.67436353G=CA2229310108HSD11B2c.769G= (p.Val257=)
16g.67436353G>TCA396281101HSD11B2c.769G>T (p.Val257Phe)
16g.67436354T>ACA396281115HSD11B2c.770T>A (p.Val257Asp)
16g.67436354T>CCA396281122HSD11B2c.770T>C (p.Val257Ala)
16g.67436354T>GCA396281125HSD11B2c.770T>G (p.Val257Gly)
16g.67436355C>ACA496082892HSD11B2c.771C>A (p.Val257=)
16g.67436355C>GCA496082893HSD11B2c.771C>G (p.Val257=)
16g.67436355C>TCA496082894HSD11B2c.771C>T (p.Val257=)
16g.67436356A>CCA396281143HSD11B2c.772A>C (p.Ser258Arg)
16g.67436356A>GCA396281132HSD11B2c.772A>G (p.Ser258Gly)
16g.67436356A>TCA396281135HSD11B2c.772A>T (p.Ser258Cys)
gnomAD v4
16g.67436357G>ACA396281147HSD11B2c.773G>A (p.Ser258Asn)
16g.67436357G>CCA396281150HSD11B2c.773G>C (p.Ser258Thr)
16g.67436357G>TCA396281157HSD11B2c.773G>T (p.Ser258Ile)
16g.67436358C>ACA396281162HSD11B2c.774C>A (p.Ser258Arg)
16g.67436358C>GCA396281163HSD11B2c.774C>G (p.Ser258Arg)
16g.67436358C>TCA496082896HSD11B2c.774C>T (p.Ser258=)
gnomAD v4
16g.67436359A>CCA396281165HSD11B2c.775A>C (p.Ile259Leu)
16g.67436359A>GCA396281169HSD11B2c.775A>G (p.Ile259Val)
gnomAD v4
16g.67436359A>TCA396281166HSD11B2c.775A>T (p.Ile259Phe)
16g.67436360T>ACA396281174HSD11B2c.776T>A (p.Ile259Asn)
16g.67436360T>CCA396281177HSD11B2c.776T>C (p.Ile259Thr)
gnomAD v4
16g.67436360T>GCA396281180HSD11B2c.776T>G (p.Ile259Ser)
16g.67436365_67436366insCCCACCCCAGGGGGCTCCTTTTTGCTCCAGTGGGGGGGGGCACTCACCCGCTGGGCTCCCCACAGTCACGATGCGGCCCCTTGAGCTGCGCAGCAGGGGCAGGAGGCCCTTGGTCAGCTCGAGCGCGCCAAAGAAATTCACCTCATCCCA978416354HSD11B2c.781_782insCCCACCCCAGGGGGCTCCTTTTTGCTCCAGTGGGGGGGGGCACTCACCCGCTGGGCTCCCCACAGTCACGATGCGGCCCCTTGAGCTGCGCAGCAGGGGCAGGAGGCCCTTGGTCAGCTCGAGCGCGCCAAAGAAATTCACCTCATCC (p.Gln261ProfsTer?)
gnomAD v3 gnomAD v4
16g.67436361C>ACA496082899HSD11B2c.777C>A (p.Ile259=)
16g.67436361C>GCA396281184HSD11B2c.777C>G (p.Ile259Met)
16g.67436361C>TCA496082901HSD11B2c.777C>T (p.Ile259=)
gnomAD v4
16g.67436362A>CCA396281187HSD11B2c.778A>C (p.Ile260Leu)
16g.67436362A>GCA396281189HSD11B2c.778A>G (p.Ile260Val)
16g.67436362A>TCA396281190HSD11B2c.778A>T (p.Ile260Phe)
16g.67436363T>ACA396281193HSD11B2c.779T>A (p.Ile260Asn)
16g.67436363T>CCA396281197HSD11B2c.779T>C (p.Ile260Thr)
16g.67436363T>GCA396281194HSD11B2c.779T>G (p.Ile260Ser)
16g.67436364C>ACA496082903HSD11B2c.780C>A (p.Ile260=)
16g.67436364C=CA2229310109HSD11B2c.780C= (p.Ile260=)
16g.67436364C>GCA396281201HSD11B2c.780C>G (p.Ile260Met)
16g.67436364C>TCA282322923HSD11B2c.780C>T (p.Ile260=)
dbSNP
16g.67436365C>ACA396281205HSD11B2c.781C>A (p.Gln261Lys)
dbSNP gnomAD v2 COSMIC
16g.67436365C=CA2229310112HSD11B2c.781C= (p.Gln261=)
16g.67436365C>GCA396281207HSD11B2c.781C>G (p.Gln261Glu)
16g.67436365C>TCA396281210HSD11B2c.781C>T (p.Gln261Ter)
16g.67436366A>CCA396281218HSD11B2c.782A>C (p.Gln261Pro)
16g.67436366A>GCA396281227HSD11B2c.782A>G (p.Gln261Arg)
16g.67436366A>TCA396281221HSD11B2c.782A>T (p.Gln261Leu)
16g.67436367G>ACA496082907HSD11B2c.783G>A (p.Gln261=)
dbSNP
16g.67436367G>CCA396281230HSD11B2c.783G>C (p.Gln261His)
16g.67436367G=CA2229310114HSD11B2c.783G= (p.Gln261=)
16g.67436367G>TCA396281231HSD11B2c.783G>T (p.Gln261His)
16g.67436368C>ACA396281232HSD11B2c.784C>A (p.Pro262Thr)
16g.67436368C=CA2229310117HSD11B2c.784C= (p.Pro262=)
16g.67436368C>GCA396281233HSD11B2c.784C>G (p.Pro262Ala)
dbSNP gnomAD v2 gnomAD v4
16g.67436368C>TCA282322933HSD11B2c.784C>T (p.Pro262Ser)
dbSNP gnomAD v3 gnomAD v4
16g.67436369C>ACA396281236HSD11B2c.785C>A (p.Pro262His)
16g.67436369C>GCA396281238HSD11B2c.785C>G (p.Pro262Arg)
16g.67436369C>TCA396281241HSD11B2c.785C>T (p.Pro262Leu)
16g.67436370T>ACA496082910HSD11B2c.786T>A (p.Pro262=)
16g.67436370T>CCA496082911HSD11B2c.786T>C (p.Pro262=)
16g.67436370T>GCA496082912HSD11B2c.786T>G (p.Pro262=)
16g.67436371G>ACA396281245HSD11B2c.787G>A (p.Gly263Ser)
16g.67436371G>CCA396281249HSD11B2c.787G>C (p.Gly263Arg)
16g.67436371G>TCA396281260HSD11B2c.787G>T (p.Gly263Cys)

Number of alleles fetched