Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
1 | g.158612739A>G | CA2648555606 | SPTA1 | c.7134+78T>C (n.7134+78T>C) c.7116+78T>C (n.7116+78T>C) | gnomAD v4 |
1 | g.158612740A>T | CA2648555607 | SPTA1 | c.7134+77T>A (n.7134+77T>A) c.7116+77T>A (n.7116+77T>A) | gnomAD v4 |
1 | g.158612741G>A | CA31250444 | SPTA1 | c.7134+76C>T (n.7134+76C>T) c.7116+76C>T (n.7116+76C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.158612741G= | CA1201536873 | SPTA1 | c.7134+76C= (n.7134+76C=) c.7116+76C= (n.7116+76C=) | |
1 | g.158612741G>T | CA2648555608 | SPTA1 | c.7134+76C>A (n.7134+76C>A) c.7116+76C>A (n.7116+76C>A) | gnomAD v4 |
1 | g.158612742T>C | CA31250448 | SPTA1 | c.7134+75A>G (n.7134+75A>G) c.7116+75A>G (n.7116+75A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.158612742T= | CA1201536874 | SPTA1 | c.7134+75A= (n.7134+75A=) c.7116+75A= (n.7116+75A=) | |
1 | g.158612743del | CA2746290251 | SPTA1 | c.7134+74del (n.7134+74del) c.7116+74del (n.7116+74del) | |
1 | g.158612744G>T | CA2648555609 | SPTA1 | c.7134+73C>A (n.7134+73C>A) c.7116+73C>A (n.7116+73C>A) | gnomAD v4 |
1 | g.158612745G>A | CA2648555610 | SPTA1 | c.7134+72C>T (n.7134+72C>T) c.7116+72C>T (n.7116+72C>T) | gnomAD v4 |
1 | g.158612745G>T | CA2648555611 | SPTA1 | c.7134+72C>A (n.7134+72C>A) c.7116+72C>A (n.7116+72C>A) | gnomAD v4 |
1 | g.158612746C>A | CA526546863 | SPTA1 | c.7134+71G>T (n.7134+71G>T) c.7116+71G>T (n.7116+71G>T) | dbSNP gnomAD v2 |
1 | g.158612746C= | CA1201536875 | SPTA1 | c.7134+71G= (n.7134+71G=) c.7116+71G= (n.7116+71G=) | |
1 | g.158612746C>G | CA2697268511 | SPTA1 | c.7134+71G>C (n.7134+71G>C) c.7116+71G>C (n.7116+71G>C) | dbSNP |
1 | g.158612746C>T | CA2648555612 | SPTA1 | c.7134+71G>A (n.7134+71G>A) c.7116+71G>A (n.7116+71G>A) | gnomAD v4 |
1 | g.158612747C= | CA1201536876 | SPTA1 | c.7134+70G= (n.7134+70G=) c.7116+70G= (n.7116+70G=) | |
1 | g.158612747C>T | CA1201536877 | SPTA1 | c.7134+70G>A (n.7134+70G>A) c.7116+70G>A (n.7116+70G>A) | dbSNP gnomAD v4 |
1 | g.158612748A>G | CA2648555613 | SPTA1 | c.7134+69T>C (n.7134+69T>C) c.7116+69T>C (n.7116+69T>C) | gnomAD v4 |
1 | g.158612749C>A | CA2648555614 | SPTA1 | c.7134+68G>T (n.7134+68G>T) n.643G>T c.7116+68G>T (n.7116+68G>T) | gnomAD v4 |
1 | g.158612749C>T | CA2573929153 | SPTA1 | c.7134+68G>A (n.7134+68G>A) n.643G>A c.7116+68G>A (n.7116+68G>A) | |
1 | g.158612750C>A | CA1201536879 | SPTA1 | c.7134+67G>T (n.7134+67G>T) n.642G>T c.7116+67G>T (n.7116+67G>T) | dbSNP gnomAD v4 |
1 | g.158612750C= | CA1201536878 | SPTA1 | c.7134+67G= (n.7134+67G=) n.642G= c.7116+67G= (n.7116+67G=) | |
1 | g.158612750C>G | CA2648555615 | SPTA1 | c.7134+67G>C (n.7134+67G>C) n.642G>C c.7116+67G>C (n.7116+67G>C) | gnomAD v4 |
1 | g.158612750C>T | CA889965601 | SPTA1 | c.7134+67G>A (n.7134+67G>A) n.642G>A c.7116+67G>A (n.7116+67G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612751G>A | CA31250451 | SPTA1 | c.7134+66C>T (n.7134+66C>T) n.641C>T c.7116+66C>T (n.7116+66C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612751G= | CA1201536880 | SPTA1 | c.7134+66C= (n.7134+66C=) n.641C= c.7116+66C= (n.7116+66C=) |