Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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= | |
22 | g.50624847A= | CA2410958189 | ARSA | c.*298T= (n.*298T=) c.180+516T= | |
22 | g.50624847A>G | CA2410958190 | ARSA | c.*298T>C (n.*298T>C) c.180+516T>C | dbSNP |
22 | g.50624851C= | CA2410958191 | ARSA | c.*294G= (n.*294G=) c.180+512G= | |
22 | g.50624851C>G | CA325531059 | ARSA | c.*294G>C (n.*294G>C) c.180+512G>C | dbSNP |
22 | g.50624851C>T | CA325531061 | ARSA | c.*294G>A (n.*294G>A) c.180+512G>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624852G>A | CA10651572 | ARSA | c.*293C>T (n.*293C>T) c.180+511C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624852G= | CA2410958192 | ARSA | c.*293C= (n.*293C=) c.180+511C= | |
22 | g.50624853C= | CA2410958193 | ARSA | c.*292G= (n.*292G=) c.180+510G= | |
22 | g.50624853_50624854insT | CA640051371 | ARSA | c.*291_*292insA (n.*291_*292insA) c.180+509_180+510insA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624855A= | CA2410958194 | ARSA | c.*290T= (n.*290T=) c.180+508T= | |
22 | g.50624855A>T | CA754067006 | ARSA | c.*290T>A (n.*290T>A) c.180+508T>A | dbSNP |
22 | g.50624856G>C | CA325531064 | ARSA | c.*289C>G (n.*289C>G) c.180+507C>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624856G= | CA2410958195 | ARSA | c.*289C= (n.*289C=) c.180+507C= | |
22 | g.50624858G>A | CA2410958197 | ARSA | c.*287C>T (n.*287C>T) c.180+505C>T | dbSNP |
22 | g.50624858G= | CA2410958196 | ARSA | c.*287C= (n.*287C=) c.180+505C= | |
22 | g.50624865C= | CA2410958198 | ARSA | c.*280G= (n.*280G=) c.180+498G= | |
22 | g.50624865C>T | CA754067010 | ARSA | c.*280G>A (n.*280G>A) c.180+498G>A | dbSNP |