Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.158612724G>T | CA2573929127 | SPTA1 | c.7134+93C>A (n.7134+93C>A) c.7116+93C>A (n.7116+93C>A) | gnomAD v4 |
1 | g.158612726del | CA2648555592 | SPTA1 | c.7134+93del (n.7134+93del) c.7116+93del (n.7116+93del) | gnomAD v4 |
1 | g.158612725G>T | CA2648555593 | SPTA1 | c.7134+92C>A (n.7134+92C>A) c.7116+92C>A (n.7116+92C>A) | dbSNP gnomAD v4 |
1 | g.158612726G>C | CA2648555594 | SPTA1 | c.7134+91C>G (n.7134+91C>G) c.7116+91C>G (n.7116+91C>G) | gnomAD v4 |
1 | g.158612726G= | CA1201536859 | SPTA1 | c.7134+91C= (n.7134+91C=) c.7116+91C= (n.7116+91C=) | |
1 | g.158612726G>T | CA889965581 | SPTA1 | c.7134+91C>A (n.7134+91C>A) c.7116+91C>A (n.7116+91C>A) | dbSNP gnomAD v4 |
1 | g.158612727T>A | CA1008229078 | SPTA1 | c.7134+90A>T (n.7134+90A>T) c.7116+90A>T (n.7116+90A>T) | gnomAD v3 gnomAD v4 |
1 | g.158612727T>C | CA2648555595 | SPTA1 | c.7134+90A>G (n.7134+90A>G) c.7116+90A>G (n.7116+90A>G) | gnomAD v4 |
1 | g.158612727T>G | CA526546862 | SPTA1 | c.7134+90A>C (n.7134+90A>C) c.7116+90A>C (n.7116+90A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.158612727T= | CA1201536860 | SPTA1 | c.7134+90A= (n.7134+90A=) c.7116+90A= (n.7116+90A=) | |
1 | g.158612728G>A | CA1201536861 | SPTA1 | c.7134+89C>T (n.7134+89C>T) c.7116+89C>T (n.7116+89C>T) | dbSNP gnomAD v4 |
1 | g.158612728G= | CA1201536862 | SPTA1 | c.7134+89C= (n.7134+89C=) c.7116+89C= (n.7116+89C=) | |
1 | g.158612728G>T | CA2648555596 | SPTA1 | c.7134+89C>A (n.7134+89C>A) c.7116+89C>A (n.7116+89C>A) | gnomAD v4 |
1 | g.158612730del | CA2573929136 | SPTA1 | c.7134+89del (n.7134+89del) c.7116+89del (n.7116+89del) | gnomAD v4 |
1 | g.158612729G>T | CA2648555597 | SPTA1 | c.7134+88C>A (n.7134+88C>A) c.7116+88C>A (n.7116+88C>A) | gnomAD v4 |
1 | g.158612730G>A | CA889965584 | SPTA1 | c.7134+87C>T (n.7134+87C>T) c.7116+87C>T (n.7116+87C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612730G>C | CA2697268510 | SPTA1 | c.7134+87C>G (n.7134+87C>G) c.7116+87C>G (n.7116+87C>G) | dbSNP |
1 | g.158612730G= | CA1201536864 | SPTA1 | c.7134+87C= (n.7134+87C=) c.7116+87C= (n.7116+87C=) | |
1 | g.158612730G>T | CA1201536865 | SPTA1 | c.7134+87C>A (n.7134+87C>A) c.7116+87C>A (n.7116+87C>A) | dbSNP gnomAD v4 |
1 | g.158612730_158612731delinsGT | CA1201536863 | SPTA1 | c.7134+86_7134+87delinsAC (n.7134+86_7134+87delinsAC) c.7116+86_7116+87delinsAC (n.7116+86_7116+87delinsAC) | |
1 | g.158612731T>A | CA2648555599 | SPTA1 | c.7134+86A>T (n.7134+86A>T) c.7116+86A>T (n.7116+86A>T) | gnomAD v4 |
1 | g.158612731T>C | CA1008229080 | SPTA1 | c.7134+86A>G (n.7134+86A>G) c.7116+86A>G (n.7116+86A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612731T>G | CA1008229081 | SPTA1 | c.7134+86A>C (n.7134+86A>C) c.7116+86A>C (n.7116+86A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612731T= | CA1201536866 | SPTA1 | c.7134+86A= (n.7134+86A=) c.7116+86A= (n.7116+86A=) | |
1 | g.158612731_158612736delinsTTTTTT | CA1148890165 | SPTA1 | c.7134+81_7134+86delinsAAAAAA (n.7134+81_7134+86delinsAAAAAA) c.7116+81_7116+86delinsAAAAAA (n.7116+81_7116+86delinsAAAAAA) | |
1 | g.158612736_158612737insTTTTTTT | CA2746290244 | SPTA1 | c.7134+86_7134+87insAAAAAAA (n.7134+86_7134+87insAAAAAAA) c.7116+86_7116+87insAAAAAAA (n.7116+86_7116+87insAAAAAAA) | |
1 | g.158612736_158612737insTTTTTTTTT | CA2746290245 | SPTA1 | c.7134+86_7134+87insAAAAAAAAA (n.7134+86_7134+87insAAAAAAAAA) c.7116+86_7116+87insAAAAAAAAA (n.7116+86_7116+87insAAAAAAAAA) | |
1 | g.158612736dup | CA2648555598 | SPTA1 | c.7134+86dup (n.7134+86dup) c.7116+86dup (n.7116+86dup) | gnomAD v4 |
1 | g.158612736del | CA31250423 | SPTA1 | c.7134+86del (n.7134+86del) c.7116+86del (n.7116+86del) | dbSNP gnomAD v4 |
1 | g.158612732T>G | CA31250438 | SPTA1 | c.7134+85A>C (n.7134+85A>C) c.7116+85A>C (n.7116+85A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.158612732T= | CA1146990838 | SPTA1 | c.7134+85A= (n.7134+85A=) c.7116+85A= (n.7116+85A=) | |
1 | g.158612733T>A | CA2648555600 | SPTA1 | c.7134+84A>T (n.7134+84A>T) c.7116+84A>T (n.7116+84A>T) | gnomAD v4 |
1 | g.158612733T>C | CA31250440 | SPTA1 | c.7134+84A>G (n.7134+84A>G) c.7116+84A>G (n.7116+84A>G) | dbSNP |
1 | g.158612733T>G | CA2648555601 | SPTA1 | c.7134+84A>C (n.7134+84A>C) c.7116+84A>C (n.7116+84A>C) | gnomAD v4 |
1 | g.158612733T= | CA1201536867 | SPTA1 | c.7134+84A= (n.7134+84A=) c.7116+84A= (n.7116+84A=) | |
1 | g.158612734T>C | CA1201536869 | SPTA1 | c.7134+83A>G (n.7134+83A>G) c.7116+83A>G (n.7116+83A>G) | dbSNP gnomAD v4 |
1 | g.158612734T= | CA1201536868 | SPTA1 | c.7134+83A= (n.7134+83A=) c.7116+83A= (n.7116+83A=) | |
1 | g.158612735T>C | CA889965590 | SPTA1 | c.7134+82A>G (n.7134+82A>G) c.7116+82A>G (n.7116+82A>G) | dbSNP |
1 | g.158612735T= | CA1201536870 | SPTA1 | c.7134+82A= (n.7134+82A=) c.7116+82A= (n.7116+82A=) | |
1 | g.158612736T>A | CA2648555602 | SPTA1 | c.7134+81A>T (n.7134+81A>T) c.7116+81A>T (n.7116+81A>T) | gnomAD v4 |
1 | g.158612736_158612737insTTTTTTTTTC | CA2746290246 | SPTA1 | c.7134+80_7134+81insGAAAAAAAAA (n.7134+80_7134+81insGAAAAAAAAA) c.7116+80_7116+81insGAAAAAAAAA (n.7116+80_7116+81insGAAAAAAAAA) | |
1 | g.158612736_158612737insTTTTTTTTTTTAC | CA2746290247 | SPTA1 | c.7134+80_7134+81insGTAAAAAAAAAAA (n.7134+80_7134+81insGTAAAAAAAAAAA) c.7116+80_7116+81insGTAAAAAAAAAAA (n.7116+80_7116+81insGTAAAAAAAAAAA) | |
1 | g.158612737C>A | CA2648555603 | SPTA1 | c.7134+80G>T (n.7134+80G>T) c.7116+80G>T (n.7116+80G>T) | dbSNP gnomAD v4 |
1 | g.158612737C>T | CA2648555604 | SPTA1 | c.7134+80G>A (n.7134+80G>A) c.7116+80G>A (n.7116+80G>A) | gnomAD v4 |
1 | g.158612738_158612746del | CA2746290248 | SPTA1 | c.7134+72_7134+80del (n.7134+72_7134+80del) c.7116+72_7116+80del (n.7116+72_7116+80del) | |
1 | g.158612739_158612748del | CA2746290249 | SPTA1 | c.7134+71_7134+80del (n.7134+71_7134+80del) c.7116+71_7116+80del (n.7116+71_7116+80del) | |
1 | g.158612738_158612749del | CA2746290250 | SPTA1 | c.7134+69_7134+80del (n.7134+69_7134+80del) c.7116+69_7116+80del (n.7116+69_7116+80del) | |
1 | g.158612738A= | CA1201536871 | SPTA1 | c.7134+79T= (n.7134+79T=) c.7116+79T= (n.7116+79T=) | |
1 | g.158612738A>G | CA2648555605 | SPTA1 | c.7134+79T>C (n.7134+79T>C) c.7116+79T>C (n.7116+79T>C) | gnomAD v4 |
1 | g.158612738A>T | CA1201536872 | SPTA1 | c.7134+79T>A (n.7134+79T>A) c.7116+79T>A (n.7116+79T>A) | dbSNP |