Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.43416546T>C | CA321324147 | SIK1 | c.*196A>G (n.*196A>G) | |
21 | g.43416546T= | CA2391216134 | SIK1 | c.*196A= (n.*196A=) | |
21 | g.43416553T>A | CA1022641344 | SIK1 | c.*189A>T (n.*189A>T) | gnomAD v3 gnomAD v4 |
21 | g.43416560T>A | CA1022641350 | SIK1 | c.*182A>T (n.*182A>T) | gnomAD v3 gnomAD v4 |
21 | g.43416561C= | CA2391216136 | SIK1 | c.*181G= (n.*181G=) | |
21 | g.43416561C>T | CA2391216135 | SIK1 | c.*181G>A (n.*181G>A) | dbSNP |
21 | g.43416570G>T | CA2517180444 | SIK1 | c.*172C>A (n.*172C>A) | |
21 | g.43416575C>A | CA1022641351 | SIK1 | c.*167G>T (n.*167G>T) | gnomAD v3 gnomAD v4 |
21 | g.43416577C= | CA2391216137 | SIK1 | c.*165G= (n.*165G=) | |
21 | g.43416577C>T | CA749584566 | SIK1 | c.*165G>A (n.*165G>A) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416578dup | CA657665505 | SIK1 | c.*164dup (n.*164dup) | COSMIC |
21 | g.43416581G>A | CA749584567 | SIK1 | c.*161C>T (n.*161C>T) | dbSNP |
21 | g.43416581G= | CA2391216138 | SIK1 | c.*161C= (n.*161C=) | |
21 | g.43416581G>T | CA2391216139 | SIK1 | c.*161C>A (n.*161C>A) | dbSNP |
21 | g.43416582C>A | CA1022641353 | SIK1 | c.*160G>T (n.*160G>T) | gnomAD v3 gnomAD v4 |
21 | g.43416585G>A | CA1022641356 | SIK1 | c.*157C>T (n.*157C>T) | gnomAD v3 gnomAD v4 |
21 | g.43416588A= | CA2391216140 | SIK1 | c.*154T= (n.*154T=) | |
21 | g.43416588A>G | CA321324150 | SIK1 | c.*154T>C (n.*154T>C) | |
21 | g.43416590A>G | CA749584568 | SIK1 | c.*152T>C (n.*152T>C) | |
21 | g.43416590A>T | CA2654732702 | SIK1 | c.*152T>A (n.*152T>A) | gnomAD v4 |
21 | g.43416593T>G | CA2831969911 | SIK1 | c.*149A>C (n.*149A>C) | |
21 | g.43416598_43416602del | CA2654732703 | SIK1 | c.*144_*148del (n.*144_*148del) | gnomAD v4 |
21 | g.43416595A= | CA2391216141 | SIK1 | c.*147T= (n.*147T=) | |
21 | g.43416595A>C | CA749584569 | SIK1 | c.*147T>G (n.*147T>G) | dbSNP |
21 | g.43416596A>G | CA2831969912 | SIK1 | c.*146T>C (n.*146T>C) | |
21 | g.43416598_43416604delinsCAAAAAT | CA2391216142 | SIK1 | c.*138_*144delinsATTTTTG (n.*138_*144delinsATTTTTG) | |
21 | g.43416599A= | CA2391216143 | SIK1 | c.*143T= (n.*143T=) | |
21 | g.43416599A>T | CA2391216144 | SIK1 | c.*143T>A (n.*143T>A) | dbSNP |
21 | g.43416602_43416607del | CA749584571 | SIK1 | c.*138_*143del (n.*138_*143del) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416602A>C | CA2818014331 | SIK1 | c.*140T>G (n.*140T>G) | |
21 | g.43416604T>G | CA2831969913 | SIK1 | c.*138A>C (n.*138A>C) | |
21 | g.43416607A>C | CA1022641367 | SIK1 | c.*135T>G (n.*135T>G) | gnomAD v3 gnomAD v4 |
21 | g.43416610A= | CA2391216145 | SIK1 | c.*132T= (n.*132T=) | |
21 | g.43416610A>G | CA749584572 | SIK1 | c.*132T>C (n.*132T>C) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416619A>C | CA2818014332 | SIK1 | c.*123T>G (n.*123T>G) | |
21 | g.43416621A>C | CA2818014333 | SIK1 | c.*121T>G (n.*121T>G) | |
21 | g.43416625_43416626delinsCT | CA2391216146 | SIK1 | c.*116_*117delinsAG (n.*116_*117delinsAG) | |
21 | g.43416626del | CA1022641373 | SIK1 | c.*116del (n.*116del) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416628A>C | CA1022641376 | SIK1 | c.*114T>G (n.*114T>G) | gnomAD v3 gnomAD v4 |
21 | g.43416629C= | CA2391216147 | SIK1 | c.*113G= (n.*113G=) | |
21 | g.43416629C>T | CA321324154 | SIK1 | c.*113G>A (n.*113G>A) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416630G>A | CA321324159 | SIK1 | c.*112C>T (n.*112C>T) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416630G= | CA2391216148 | SIK1 | c.*112C= (n.*112C=) | |
21 | g.43416631T>C | CA321324162 | SIK1 | c.*111A>G (n.*111A>G) | dbSNP |
21 | g.43416631T= | CA2391216149 | SIK1 | c.*111A= (n.*111A=) | |
21 | g.43416643C= | CA2391216150 | SIK1 | c.*99G= (n.*99G=) | |
21 | g.43416643C>T | CA321324167 | SIK1 | c.*99G>A (n.*99G>A) | |
21 | g.43416644G>A | CA2391216152 | SIK1 | c.*98C>T (n.*98C>T) | dbSNP gnomAD v4 |
21 | g.43416644G= | CA2391216151 | SIK1 | c.*98C= (n.*98C=) | |
21 | g.43416644G>T | CA2391216153 | SIK1 | c.*98C>A (n.*98C>A) | dbSNP |