Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.43416500T>C | CA749584549 | SIK1 | c.*242A>G (n.*242A>G) | |
21 | g.43416500T= | CA2391216122 | SIK1 | c.*242A= (n.*242A=) | |
21 | g.43416501G>C | CA749584551 | SIK1 | c.*241C>G (n.*241C>G) | |
21 | g.43416507_43416512dup | CA920315144 | SIK1 | c.*236_*241dup (n.*236_*241dup) | dbSNP |
21 | g.43416506C>T | CA749584553 | SIK1 | c.*236G>A (n.*236G>A) | dbSNP |
21 | g.43416507G>A | CA2391216124 | SIK1 | c.*235C>T (n.*235C>T) | dbSNP gnomAD v4 |
21 | g.43416507G>C | CA749584556 | SIK1 | c.*235C>G (n.*235C>G) | dbSNP |
21 | g.43416507G= | CA2391216123 | SIK1 | c.*235C= (n.*235C=) | |
21 | g.43416512dup | CA749584561 | SIK1 | c.*234dup (n.*234dup) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416512_43416513delinsCA | CA2391216125 | SIK1 | c.*229_*230delinsTG (n.*229_*230delinsTG) | |
21 | g.43416513del | CA1022641325 | SIK1 | c.*229del (n.*229del) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416513A= | CA2391216126 | SIK1 | c.*229T= (n.*229T=) | |
21 | g.43416513A>C | CA2391216127 | SIK1 | c.*229T>G (n.*229T>G) | dbSNP |
21 | g.43416513A>T | CA2391216128 | SIK1 | c.*229T>A (n.*229T>A) | dbSNP |
21 | g.43416518C= | CA2391216129 | SIK1 | c.*224G= (n.*224G=) | |
21 | g.43416518C>G | CA2591031618 | SIK1 | c.*224G>C (n.*224G>C) | gnomAD v3 gnomAD v4 |
21 | g.43416518C>T | CA321324135 | SIK1 | c.*224G>A (n.*224G>A) | dbSNP |
21 | g.43416519G>A | CA749584564 | SIK1 | c.*223C>T (n.*223C>T) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416519G= | CA2391216130 | SIK1 | c.*223C= (n.*223C=) | |
21 | g.43416527A= | CA2391216131 | SIK1 | c.*215T= (n.*215T=) | |
21 | g.43416527A>G | CA2391216132 | SIK1 | c.*215T>C (n.*215T>C) | dbSNP |
21 | g.43416532C>T | CA2518980556 | SIK1 | c.*210G>A (n.*210G>A) | |
21 | g.43416534T>G | CA321324145 | SIK1 | c.*208A>C (n.*208A>C) | |
21 | g.43416534T= | CA2391216133 | SIK1 | c.*208A= (n.*208A=) | |
21 | g.43416540C>A | CA1022641340 | SIK1 | c.*202G>T (n.*202G>T) | gnomAD v3 gnomAD v4 |
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 |