Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
X | g.25013332_25013337dup | CA10577657 | ARX | c.665_670dup (p.Thr223_Glu224insGlyThr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013336C>A | CA412612713 | ARX | c.659G>T (p.Gly220Val) | |
X | g.25013336C>G | CA412612714 | ARX | c.659G>C (p.Gly220Ala) | ClinVar dbSNP gnomAD v4 |
X | g.25013336C>T | CA412612715 | ARX | c.659G>A (p.Gly220Asp) | ClinVar gnomAD v4 |
X | g.25013337C>A | CA412612716 | ARX | c.658G>T (p.Gly220Cys) | gnomAD v4 |
X | g.25013337C= | CA2420209219 | ARX | c.658G= (p.Gly220=) | |
X | g.25013337C>G | CA412612717 | ARX | c.658G>C (p.Gly220Arg) | |
X | g.25013337C>T | CA412612718 | ARX | c.658G>A (p.Gly220Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013338A= | CA2420209220 | ARX | c.657T= (p.Gly219=) | |
X | g.25013338A>C | CA515947866 | ARX | c.657T>G (p.Gly219=) | |
X | g.25013338A>G | CA10373889 | ARX | c.657T>C (p.Gly219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013338A>T | CA515947865 | ARX | c.657T>A (p.Gly219=) | gnomAD v4 |
X | g.25013339C>A | CA412612719 | ARX | c.656G>T (p.Gly219Val) | gnomAD v4 |
X | g.25013339C>G | CA412612720 | ARX | c.656G>C (p.Gly219Ala) | |
X | g.25013339C>T | CA412612721 | ARX | c.656G>A (p.Gly219Asp) | |
X | g.25013340C>A | CA412612722 | ARX | c.655G>T (p.Gly219Cys) | |
X | g.25013340C>G | CA412612724 | ARX | c.655G>C (p.Gly219Arg) | |
X | g.25013340C>T | CA412612723 | ARX | c.655G>A (p.Gly219Ser) | gnomAD v4 |
X | g.25013341A>C | CA515947876 | ARX | c.654T>G (p.Gly218=) | |
X | g.25013341A>G | CA515947880 | ARX | c.654T>C (p.Gly218=) | |
X | g.25013341A>T | CA515947879 | ARX | c.654T>A (p.Gly218=) | |
X | g.25013342C>A | CA412612725 | ARX | c.653G>T (p.Gly218Val) | ClinVar |
X | g.25013342C= | CA2420209221 | ARX | c.653G= (p.Gly218=) | |
X | g.25013342C>G | CA412612726 | ARX | c.653G>C (p.Gly218Ala) | |
X | g.25013342C>T | CA412612727 | ARX | c.653G>A (p.Gly218Asp) | dbSNP gnomAD v4 |
X | g.25013343C>A | CA412612728 | ARX | c.652G>T (p.Gly218Cys) | |
X | g.25013343C>G | CA412612729 | ARX | c.652G>C (p.Gly218Arg) | |
X | g.25013343C>T | CA412612730 | ARX | c.652G>A (p.Gly218Ser) | |
X | g.25013344C>A | CA171160 | ARX | c.651G>T (p.Ala217=) | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.25013344C= | CA2420209222 | ARX | c.651G= (p.Ala217=) | |
X | g.25013344C>G | CA515947885 | ARX | c.651G>C (p.Ala217=) | |
X | g.25013344C>T | CA515947887 | ARX | c.651G>A (p.Ala217=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013345G>A | CA412612731 | ARX | c.650C>T (p.Ala217Val) | dbSNP gnomAD v4 |
X | g.25013345G>C | CA412612732 | ARX | c.650C>G (p.Ala217Gly) | |
X | g.25013345G= | CA2420209223 | ARX | c.650C= (p.Ala217=) | |
X | g.25013345G>T | CA412612733 | ARX | c.650C>A (p.Ala217Glu) | gnomAD v4 |
X | g.25013346C>A | CA412612736 | ARX | c.649G>T (p.Ala217Ser) | gnomAD v4 |
X | g.25013346C>G | CA412612735 | ARX | c.649G>C (p.Ala217Pro) | |
X | g.25013346C>T | CA412612734 | ARX | c.649G>A (p.Ala217Thr) | |
X | g.25013347A= | CA2420209224 | ARX | c.648T= (p.Ala216=) | |
X | g.25013347A>C | CA515947900 | ARX | c.648T>G (p.Ala216=) | |
X | g.25013347A>G | CA515947902 | ARX | c.648T>C (p.Ala216=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.25013347A>T | CA515947905 | ARX | c.648T>A (p.Ala216=) | gnomAD v4 |
X | g.25013348G>A | CA412612737 | ARX | c.647C>T (p.Ala216Val) | gnomAD v4 |
X | g.25013348G>C | CA412612738 | ARX | c.647C>G (p.Ala216Gly) | dbSNP gnomAD v3 gnomAD v4 |
X | g.25013348G= | CA2420209225 | ARX | c.647C= (p.Ala216=) | |
X | g.25013348G>T | CA412612739 | ARX | c.647C>A (p.Ala216Asp) | gnomAD v4 |
X | g.25013352_25013380del | CA2695232864 | ARX | c.619_647del (p.Val207CysfsTer21) | |
X | g.25013349C>A | CA412612740 | ARX | c.646G>T (p.Ala216Ser) | gnomAD v4 |