| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
| X | g.25013763C>A | CA213174 | ARX | c.232G>T (p.Glu78Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.25013763C= | CA2420209428 | ARX | c.232G= (p.Glu78=) | |
| X | g.25013763C>G | CA412613599 | ARX | c.232G>C (p.Glu78Gln) | |
| X | g.25013763C>T | CA412613600 | ARX | c.232G>A (p.Glu78Lys) | gnomAD v4 |
| X | g.25013764G>A | CA515749228 | ARX | c.231C>T (p.Ala77=) | gnomAD v4 |
| X | g.25013764G>C | CA515749230 | ARX | c.231C>G (p.Ala77=) | |
| X | g.25013764G>T | CA515749232 | ARX | c.231C>A (p.Ala77=) | gnomAD v4 |
| X | g.25013765G>A | CA412613601 | ARX | c.230C>T (p.Ala77Val) | gnomAD v4 |
| X | g.25013765G>C | CA412613602 | ARX | c.230C>G (p.Ala77Gly) | |
| X | g.25013765G>T | CA412613603 | ARX | c.230C>A (p.Ala77Asp) | gnomAD v4 |
| X | g.25013766C>A | CA412613605 | ARX | c.229G>T (p.Ala77Ser) | gnomAD v4 |
| X | g.25013766C= | CA2420209429 | ARX | c.229G= (p.Ala77=) | |
| X | g.25013766C>G | CA412613606 | ARX | c.229G>C (p.Ala77Pro) | |
| X | g.25013766C>T | CA412613604 | ARX | c.229G>A (p.Ala77Thr) | ClinVar dbSNP gnomAD v4 |
| X | g.25013767del | CA2693353739 | ARX | c.229del (p.Ala77ProfsTer?) | gnomAD v4 |
| X | g.25013767C>A | CA412613608 | ARX | c.228G>T (p.Glu76Asp) | gnomAD v4 |
| X | g.25013767C>G | CA412613607 | ARX | c.228G>C (p.Glu76Asp) | |
| X | g.25013767C>T | CA515749239 | ARX | c.228G>A (p.Glu76=) | gnomAD v4 |
| X | g.25013768T>A | CA412613610 | ARX | c.227A>T (p.Glu76Val) | |
| X | g.25013768T>C | CA412613609 | ARX | c.227A>G (p.Glu76Gly) | ClinVar dbSNP gnomAD v4 |
| X | g.25013768T>G | CA412613611 | ARX | c.227A>C (p.Glu76Ala) | |
| X | g.25013769C>A | CA412613612 | ARX | c.226G>T (p.Glu76Ter) | gnomAD v4 |
| X | g.25013769C>G | CA412613613 | ARX | c.226G>C (p.Glu76Gln) | |
| X | g.25013769C>T | CA412613614 | ARX | c.226G>A (p.Glu76Lys) | gnomAD v4 |
| X | g.25013770G>A | CA515749244 | ARX | c.225C>T (p.Phe75=) | gnomAD v4 |
| X | g.25013770G>C | CA412613615 | ARX | c.225C>G (p.Phe75Leu) | |
| X | g.25013770G>T | CA412613616 | ARX | c.225C>A (p.Phe75Leu) | gnomAD v4 |
| X | g.25013771A>C | CA412613617 | ARX | c.224T>G (p.Phe75Cys) | |
| X | g.25013771A>G | CA412613618 | ARX | c.224T>C (p.Phe75Ser) | |
| X | g.25013771A>T | CA412613619 | ARX | c.224T>A (p.Phe75Tyr) | gnomAD v4 |
| X | g.25013772A= | CA2420209430 | ARX | c.223T= (p.Phe75=) | |
| X | g.25013772A>C | CA16603279 | ARX | c.223T>G (p.Phe75Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013772A>G | CA412613620 | ARX | c.223T>C (p.Phe75Leu) | |
| X | g.25013772A>T | CA412613621 | ARX | c.223T>A (p.Phe75Ile) | |
| X | g.25013773C>A | CA515749253 | ARX | c.222G>T (p.Pro74=) | gnomAD v4 |
| X | g.25013773C= | CA2420209431 | ARX | c.222G= (p.Pro74=) | |
| X | g.25013773C>G | CA515749252 | ARX | c.222G>C (p.Pro74=) | |
| X | g.25013773C>T | CA515749255 | ARX | c.222G>A (p.Pro74=) | ClinVar dbSNP gnomAD v4 |
| X | g.25013774G>A | CA412613624 | ARX | c.221C>T (p.Pro74Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013774G>C | CA412613623 | ARX | c.221C>G (p.Pro74Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013774G= | CA2420209432 | ARX | c.221C= (p.Pro74=) | |
| X | g.25013774G>T | CA412613622 | ARX | c.221C>A (p.Pro74Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 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=) | 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=) |