Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50624744_50624747delinsCGTT | CA2410958130 | ARSA | c.*398_*401delinsAACG (n.*398_*401delinsAACG) c.180+616_180+619delinsAACG | |
22 | g.50624745_50624746del | CA640051359 | ARSA | c.*399_*400del (n.*399_*400del) c.180+617_180+618del | gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624745_50624747del | CA640051358 | ARSA | c.*398_*400del (n.*398_*400del) c.180+616_180+618del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624746T>C | CA640051361 | ARSA | c.*399A>G (n.*399A>G) c.180+617A>G | gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624746T>G | CA2539337978 | ARSA | c.*399A>C (n.*399A>C) c.180+617A>C | dbSNP |
22 | g.50624746_50624747insC | CA1026679874 | ARSA | c.*398_*399insG (n.*398_*399insG) c.180+616_180+617insG | gnomAD v3 gnomAD v4 |
22 | g.50624746_50624747insCCC | CA640051362 | ARSA | c.*398_*399insGGG (n.*398_*399insGGG) c.180+616_180+617insGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624747T>C | CA640051363 | ARSA | c.*398A>G (n.*398A>G) c.180+616A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624747T>G | CA2532529959 | ARSA | c.*398A>C (n.*398A>C) c.180+616A>C | |
22 | g.50624747T= | CA2410958132 | ARSA | c.*398A= (n.*398A=) c.180+616A= | |
22 | g.50624748C>T | CA640051364 | ARSA | c.*397G>A (n.*397G>A) c.180+615G>A | gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624748_50624749dup | CA1026679878 | ARSA | c.*396_*397dup (n.*396_*397dup) c.180+614_180+615dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624749C>A | CA2534009167 | ARSA | c.*396G>T (n.*396G>T) c.180+614G>T | |
22 | g.50624749C= | CA2410958133 | ARSA | c.*396G= (n.*396G=) c.180+614G= | |
22 | g.50624749C>T | CA2410958134 | ARSA | c.*396G>A (n.*396G>A) c.180+614G>A | dbSNP |
22 | g.50624750_50624754del | CA640051365 | ARSA | c.*391_*395del (n.*391_*395del) c.180+609_180+613del | gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624751G= | CA2410958135 | ARSA | c.*394C= (n.*394C=) c.180+612C= | |
22 | g.50624751G>T | CA1026679896 | ARSA | c.*394C>A (n.*394C>A) c.180+612C>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624751_50624752del | CA1026679893 | ARSA | c.*393_*394del (n.*393_*394del) c.180+611_180+612del | gnomAD v3 gnomAD v4 |
22 | g.50624752G>C | CA1026679905 | ARSA | c.*393C>G (n.*393C>G) c.180+611C>G | gnomAD v3 gnomAD v4 |
22 | g.50624753C>A | CA2410958137 | ARSA | c.*392G>T (n.*392G>T) c.180+610G>T | dbSNP |
22 | g.50624753C= | CA2410958136 | ARSA | c.*392G= (n.*392G=) c.180+610G= | |
22 | g.50624754A>C | CA1026679908 | ARSA | c.*391T>G (n.*391T>G) c.180+609T>G | gnomAD v3 gnomAD v4 |
22 | g.50624756T>C | CA325531037 | ARSA | c.*389A>G (n.*389A>G) c.180+607A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624756T= | CA2410958138 | ARSA | c.*389A= (n.*389A=) c.180+607A= | |
22 | g.50624758A= | CA2410958139 | ARSA | c.*387T= (n.*387T=) c.180+605T= | |
22 | g.50624758A>G | CA2410958140 | ARSA | c.*387T>C (n.*387T>C) c.180+605T>C | dbSNP |
22 | g.50624760A= | CA2410958141 | ARSA | c.*385T= (n.*385T=) c.180+603T= | |
22 | g.50624760A>G | CA754066939 | ARSA | c.*385T>C (n.*385T>C) c.180+603T>C | dbSNP |
22 | g.50624765C= | CA2410958142 | ARSA | c.*380G= (n.*380G=) c.180+598G= | |
22 | g.50624765C>T | CA754066951 | ARSA | c.*380G>A (n.*380G>A) c.180+598G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624766G>A | CA640051366 | ARSA | c.*379C>T (n.*379C>T) c.180+597C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624766G>C | CA1026679914 | ARSA | c.*379C>G (n.*379C>G) c.180+597C>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624766G= | CA2410958143 | ARSA | c.*379C= (n.*379C=) c.180+597C= | |
22 | g.50624768G>A | CA325531038 | ARSA | c.*377C>T (n.*377C>T) c.180+595C>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624768G= | CA2410958144 | ARSA | c.*377C= (n.*377C=) c.180+595C= | |
22 | g.50624770C= | CA2410958145 | ARSA | c.*375G= (n.*375G=) c.180+593G= | |
22 | g.50624770C>T | CA754066953 | ARSA | c.*375G>A (n.*375G>A) c.180+593G>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624771G>A | CA325531040 | ARSA | c.*374C>T (n.*374C>T) c.180+592C>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624771G= | CA2410958146 | ARSA | c.*374C= (n.*374C=) c.180+592C= | |
22 | g.50624772C>T | CA2819315957 | ARSA | c.*373G>A (n.*373G>A) c.180+591G>A | |
22 | g.50624773T>C | CA2819315958 | ARSA | c.*372A>G (n.*372A>G) c.180+590A>G | |
22 | g.50624781T>C | CA640051367 | ARSA | c.*364A>G (n.*364A>G) c.180+582A>G | gnomAD v2 |
22 | g.50624782G>C | CA1026679921 | ARSA | c.*363C>G (n.*363C>G) c.180+581C>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624782G= | CA2410958147 | ARSA | c.*363C= (n.*363C=) c.180+581C= | |
22 | g.50624783A>G | CA2738228866 | ARSA | c.*362T>C (n.*362T>C) c.180+580T>C | dbSNP |
22 | g.50624787_50624788del | CA2819315959 | ARSA | c.*358_*359del (n.*358_*359del) c.180+576_180+577del | |
22 | g.50624788A= | CA2410958148 | ARSA | c.*357T= (n.*357T=) c.180+575T= | |
22 | g.50624788A>T | CA2410958149 | ARSA | c.*357T>A (n.*357T>A) c.180+575T>A | dbSNP |
22 | g.50624792G>A | CA640051368 | ARSA | c.*353C>T (n.*353C>T) c.180+571C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624792G= | CA2410958150 | ARSA | c.*353C= (n.*353C=) c.180+571C= | |
22 | g.50624793C= | CA2410958151 | ARSA | c.*352G= (n.*352G=) c.180+570G= | |
22 | g.50624793C>T | CA754066957 | ARSA | c.*352G>A (n.*352G>A) c.180+570G>A | dbSNP |
22 | g.50624794C= | CA2410958152 | ARSA | c.*351G= (n.*351G=) c.180+569G= | |
22 | g.50624794C>T | CA2410958153 | ARSA | c.*351G>A (n.*351G>A) c.180+569G>A | dbSNP |
22 | g.50624795C>T | CA2819315960 | ARSA | c.*350G>A (n.*350G>A) c.180+568G>A | |
22 | g.50624796A= | CA2410958154 | ARSA | c.*349T= (n.*349T=) c.180+567T= | |
22 | g.50624796A>G | CA2410958155 | ARSA | c.*349T>C (n.*349T>C) c.180+567T>C | dbSNP |
22 | g.50624797T>C | CA754066958 | ARSA | c.*348A>G (n.*348A>G) c.180+566A>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624797T= | CA2410958156 | ARSA | c.*348A= (n.*348A=) c.180+566A= | |
22 | g.50624798G>C | CA2410958158 | ARSA | c.*347C>G (n.*347C>G) c.180+565C>G | dbSNP |
22 | g.50624798G= | CA2410958157 | ARSA | c.*347C= (n.*347C=) c.180+565C= | |
22 | g.50624803T>C | CA10645792 | ARSA | c.*342A>G (n.*342A>G) c.180+560A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624803T= | CA2410958159 | ARSA | c.*342A= (n.*342A=) c.180+560A= | |
22 | g.50624805A= | CA2410958160 | ARSA | c.*340T= (n.*340T=) c.180+558T= | |
22 | g.50624805A>C | CA325531043 | ARSA | c.*340T>G (n.*340T>G) c.180+558T>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624805A>T | CA10653699 | ARSA | c.*340T>A (n.*340T>A) c.180+558T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624812C= | CA2410958161 | ARSA | c.*333G= (n.*333G=) c.180+551G= | |
22 | g.50624812C>T | CA325531045 | ARSA | c.*333G>A (n.*333G>A) c.180+551G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624813G>A | CA10651569 | ARSA | c.*332C>T (n.*332C>T) c.180+550C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624813G= | CA2410958162 | ARSA | c.*332C= (n.*332C=) c.180+550C= | |
22 | g.50624817G>A | CA325531047 | ARSA | c.*328C>T (n.*328C>T) c.180+546C>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624817G= | CA2410958163 | ARSA | c.*328C= (n.*328C=) c.180+546C= | |
22 | g.50624818C= | CA2410958165 | ARSA | c.*327G= (n.*327G=) c.180+545G= | |
22 | g.50624818C>G | CA2410958164 | ARSA | c.*327G>C (n.*327G>C) c.180+545G>C | dbSNP |
22 | g.50624819C= | CA2410958166 | ARSA | c.*326G= (n.*326G=) c.180+544G= | |
22 | g.50624819C>G | CA325531050 | ARSA | c.*326G>C (n.*326G>C) c.180+544G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624820T>C | CA2410958168 | ARSA | c.*325A>G (n.*325A>G) c.180+543A>G | dbSNP |
22 | g.50624820T= | CA2410958167 | ARSA | c.*325A= (n.*325A=) c.180+543A= | |
22 | g.50624821G>T | CA2819315962 | ARSA | c.*324C>A (n.*324C>A) c.180+542C>A | |
22 | g.50624822T>C | CA325531052 | ARSA | c.*323A>G (n.*323A>G) c.180+541A>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624822T= | CA2410958169 | ARSA | c.*323A= (n.*323A=) c.180+541A= | |
22 | g.50624829T>A | CA640051369 | ARSA | c.*316A>T (n.*316A>T) c.180+534A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624829T= | CA2410958170 | ARSA | c.*316A= (n.*316A=) c.180+534A= | |
22 | g.50624830G= | CA2410958171 | ARSA | c.*315C= (n.*315C=) c.180+533C= | |
22 | g.50624830G>T | CA2410958172 | ARSA | c.*315C>A (n.*315C>A) c.180+533C>A | dbSNP |
22 | g.50624833C>A | CA2410958174 | ARSA | c.*312G>T (n.*312G>T) c.180+530G>T | dbSNP |
22 | g.50624833C= | CA2410958173 | ARSA | c.*312G= (n.*312G=) c.180+530G= | |
22 | g.50624834C>A | CA2410958176 | ARSA | c.*311G>T (n.*311G>T) c.180+529G>T | dbSNP |
22 | g.50624834C= | CA2410958175 | ARSA | c.*311G= (n.*311G=) c.180+529G= | |
22 | g.50624836C= | CA2410958177 | ARSA | c.*309G= (n.*309G=) c.180+527G= | |
22 | g.50624836C>T | CA325531053 | ARSA | c.*309G>A (n.*309G>A) c.180+527G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624837G>A | CA325531055 | ARSA | c.*308C>T (n.*308C>T) c.180+526C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624837G= | CA2410958178 | ARSA | c.*308C= (n.*308C=) c.180+526C= | |
22 | g.50624838_50624839delinsCA | CA2410958179 | ARSA | c.*306_*307delinsTG (n.*306_*307delinsTG) c.180+524_180+525delinsTG | |
22 | g.50624839del | CA754066971 | ARSA | c.*306del (n.*306del) c.180+524del | dbSNP |
22 | g.50624839A= | CA2410958180 | ARSA | c.*306T= (n.*306T=) c.180+524T= | |
22 | g.50624839A>G | CA325531058 | ARSA | c.*306T>C (n.*306T>C) c.180+524T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624842T>C | CA754066982 | ARSA | c.*303A>G (n.*303A>G) c.180+521A>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624842T= | CA2410958181 | ARSA | c.*303A= (n.*303A=) c.180+521A= | |
22 | g.50624843C= | CA2410958182 | ARSA | c.*302G= (n.*302G=) c.180+520G= | |
22 | g.50624843C>T | CA640051370 | ARSA | c.*302G>A (n.*302G>A) c.180+520G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624844A= | CA2410958183 | ARSA | c.*301T= (n.*301T=) c.180+519T= | |
22 | g.50624844A>C | CA2410958184 | ARSA | c.*301T>G (n.*301T>G) c.180+519T>G | dbSNP |
22 | g.50624845C>A | CA2410958186 | ARSA | c.*300G>T (n.*300G>T) c.180+518G>T | dbSNP |
22 | g.50624845C= | CA2410958185 | ARSA | c.*300G= (n.*300G=) c.180+518G= | |
22 | g.50624845C>T | CA2410958187 | ARSA | c.*300G>A (n.*300G>A) c.180+518G>A | dbSNP |
22 | g.50624846C>A | CA754066998 | ARSA | c.*299G>T (n.*299G>T) c.180+517G>T | dbSNP |
22 | g.50624846C= | CA2410958188 | ARSA | c.*299G= (n.*299G=) c.180+517G= |