Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
X | g.25013775G>A | CA412613625 | ARX | c.220C>T (p.Pro74Ser) | gnomAD v4 |
X | g.25013775G>C | CA412613626 | ARX | c.220C>G (p.Pro74Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013775G= | CA2420209433 | ARX | c.220C= (p.Pro74=) | |
X | g.25013775G>T | CA412613627 | ARX | c.220C>A (p.Pro74Thr) | gnomAD v4 |
X | g.25013776G>A | CA515749258 | ARX | c.219C>T (p.Ala73=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013776G>C | CA515749259 | ARX | c.219C>G (p.Ala73=) | |
X | g.25013776G= | CA2420209434 | ARX | c.219C= (p.Ala73=) | |
X | g.25013776G>T | CA515749260 | ARX | c.219C>A (p.Ala73=) | gnomAD v4 |
X | g.25013777G>A | CA412613628 | ARX | c.218C>T (p.Ala73Val) | |
X | g.25013777G>C | CA412613629 | ARX | c.218C>G (p.Ala73Gly) | |
X | g.25013777G>T | CA412613630 | ARX | c.218C>A (p.Ala73Asp) | |
X | g.25013778C>A | CA412613631 | ARX | c.217G>T (p.Ala73Ser) | gnomAD v4 |
X | g.25013778C>G | CA412613632 | ARX | c.217G>C (p.Ala73Pro) | |
X | g.25013778C>T | CA412613633 | ARX | c.217G>A (p.Ala73Thr) | gnomAD v4 |
X | g.25013779G>A | CA327733061 | ARX | c.216C>T (p.Ser72=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013779G>C | CA412613634 | ARX | c.216C>G (p.Ser72Arg) | gnomAD v4 |
X | g.25013779G= | CA2420209435 | ARX | c.216C= (p.Ser72=) | |
X | g.25013779G>T | CA171148 | ARX | c.216C>A (p.Ser72Arg) | ClinVar dbSNP gnomAD v4 |
X | g.25013780C>A | CA412613637 | ARX | c.215G>T (p.Ser72Ile) | gnomAD v4 |
X | g.25013780C= | CA2420209436 | ARX | c.215G= (p.Ser72=) | |
X | g.25013780C>G | CA412613636 | ARX | c.215G>C (p.Ser72Thr) | ClinVar dbSNP gnomAD v4 |
X | g.25013780C>T | CA412613635 | ARX | c.215G>A (p.Ser72Asn) | |
X | g.25013781T>A | CA412613638 | ARX | c.214A>T (p.Ser72Cys) | |
X | g.25013781T>C | CA412613639 | ARX | c.214A>G (p.Ser72Gly) | gnomAD v4 |
X | g.25013781T>G | CA412613640 | ARX | c.214A>C (p.Ser72Arg) | |
X | g.25013782G>A | CA515749272 | ARX | c.213C>T (p.Ser71=) | gnomAD v4 |
X | g.25013782G>C | CA412613641 | ARX | c.213C>G (p.Ser71Arg) | |
X | g.25013782G>T | CA412613642 | ARX | c.213C>A (p.Ser71Arg) | ClinVar gnomAD v4 |
X | g.25013783C>A | CA412613643 | ARX | c.212G>T (p.Ser71Ile) | gnomAD v4 |
X | g.25013783C>G | CA412613644 | ARX | c.212G>C (p.Ser71Thr) | |
X | g.25013783C>T | CA412613645 | ARX | c.212G>A (p.Ser71Asn) | gnomAD v4 |
X | g.25013784T>A | CA233285 | ARX | c.211A>T (p.Ser71Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013784T>C | CA412613646 | ARX | c.211A>G (p.Ser71Gly) | gnomAD v4 |
X | g.25013784T>G | CA412613647 | ARX | c.211A>C (p.Ser71Arg) | |
X | g.25013784T= | CA2420209437 | ARX | c.211A= (p.Ser71=) | |
X | g.25013785G>A | CA515749279 | ARX | c.210C>T (p.Ser70=) | gnomAD v4 |
X | g.25013785G>C | CA327733062 | ARX | c.210C>G (p.Ser70Arg) | dbSNP gnomAD v3 gnomAD v4 |
X | g.25013785G= | CA2420209438 | ARX | c.210C= (p.Ser70=) | |
X | g.25013785G>T | CA412613648 | ARX | c.210C>A (p.Ser70Arg) | gnomAD v4 |
X | g.25013786C>A | CA412613649 | ARX | c.209G>T (p.Ser70Ile) | gnomAD v4 |
X | g.25013786C>G | CA412613651 | ARX | c.209G>C (p.Ser70Thr) | |
X | g.25013786C>T | CA412613650 | ARX | c.209G>A (p.Ser70Asn) | |
X | g.25013787T>A | CA412613652 | ARX | c.208A>T (p.Ser70Cys) | |
X | g.25013787T>C | CA412613653 | ARX | c.208A>G (p.Ser70Gly) | gnomAD v4 |
X | g.25013787T>G | CA412613654 | ARX | c.208A>C (p.Ser70Arg) | |
X | g.25013788C>A | CA412613655 | ARX | c.207G>T (p.Lys69Asn) | gnomAD v4 |
X | g.25013788C>G | CA412613656 | ARX | c.207G>C (p.Lys69Asn) | gnomAD v4 |
X | g.25013788C>T | CA515749285 | ARX | c.207G>A (p.Lys69=) | |
X | g.25013789T>A | CA412613657 | ARX | c.206A>T (p.Lys69Met) |