Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
21 | g.43416646T>G | CA2818014334 | SIK1 | c.*96A>C (n.*96A>C) | |
21 | g.43416649T>C | CA2654732704 | SIK1 | c.*93A>G (n.*93A>G) | gnomAD v4 |
21 | g.43416658_43416659insA | CA657665507 | SIK1 | c.*83_*84insT (n.*83_*84insT) | COSMIC |
21 | g.43416659T>G | CA2818014335 | SIK1 | c.*83A>C (n.*83A>C) | |
21 | g.43416662G>A | CA749584573 | SIK1 | c.*80C>T (n.*80C>T) | dbSNP |
21 | g.43416662G= | CA2391216154 | SIK1 | c.*80C= (n.*80C=) | |
21 | g.43416663C= | CA2391216155 | SIK1 | c.*79G= (n.*79G=) | |
21 | g.43416663C>T | CA321324170 | SIK1 | c.*79G>A (n.*79G>A) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416670G>T | CA2737819839 | SIK1 | c.*72C>A (n.*72C>A) | dbSNP |
21 | g.43416671C>A | CA749584574 | SIK1 | c.*71G>T (n.*71G>T) | |
21 | g.43416675A>G | CA2818014336 | SIK1 | c.*67T>C (n.*67T>C) | |
21 | g.43416675A>T | CA2818014337 | SIK1 | c.*67T>A (n.*67T>A) | |
21 | g.43416685C= | CA2391216156 | SIK1 | c.*57G= (n.*57G=) | |
21 | g.43416685C>T | CA749584575 | SIK1 | c.*57G>A (n.*57G>A) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416687C= | CA2391216157 | SIK1 | c.*55G= (n.*55G=) | |
21 | g.43416687C>T | CA321324176 | SIK1 | c.*55G>A (n.*55G>A) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416688C>T | CA2654732705 | SIK1 | c.*54G>A (n.*54G>A) | gnomAD v4 |
21 | g.43416691T>C | CA321324179 | SIK1 | c.*51A>G (n.*51A>G) | dbSNP |
21 | g.43416691T= | CA2391216158 | SIK1 | c.*51A= (n.*51A=) | |
21 | g.43416691_43416692del | CA2654732706 | SIK1 | c.*50_*51del (n.*50_*51del) | gnomAD v4 |
21 | g.43416694A= | CA2391216159 | SIK1 | c.*48T= (n.*48T=) | |
21 | g.43416694A>C | CA321324181 | SIK1 | c.*48T>G (n.*48T>G) | dbSNP |