| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
| X | g.25013444_25013446dup | CA641364633 | ARX | c.558_560dup (p.Pro187_Ala188insPro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013444_25013446del | CA641364632 | ARX | c.558_560del (p.Pro187del) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013444G>A | CA412612927 | ARX | c.551C>T (p.Pro184Leu) | gnomAD v3 gnomAD v4 |
| X | g.25013444G>C | CA412612928 | ARX | c.551C>G (p.Pro184Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.25013444G= | CA2420209272 | ARX | c.551C= (p.Pro184=) | |
| X | g.25013444G>T | CA412612929 | ARX | c.551C>A (p.Pro184Gln) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013445G>A | CA412612930 | ARX | c.550C>T (p.Pro184Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013445G>C | CA412612931 | ARX | c.550C>G (p.Pro184Ala) | gnomAD v4 |
| X | g.25013445G= | CA2420209273 | ARX | c.550C= (p.Pro184=) | |
| X | g.25013445G>T | CA412612932 | ARX | c.550C>A (p.Pro184Thr) | gnomAD v4 |
| X | g.25013446C>A | CA515948271 | ARX | c.549G>T (p.Val183=) | gnomAD v4 |
| X | g.25013446C= | CA2420209274 | ARX | c.549G= (p.Val183=) | |
| X | g.25013446C>G | CA515948273 | ARX | c.549G>C (p.Val183=) | gnomAD v4 |
| X | g.25013446C>T | CA515948276 | ARX | c.549G>A (p.Val183=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013447A>C | CA412612933 | ARX | c.548T>G (p.Val183Gly) | |
| X | g.25013447A>G | CA412612934 | ARX | c.548T>C (p.Val183Ala) | gnomAD v4 |
| X | g.25013447A>T | CA412612935 | ARX | c.548T>A (p.Val183Glu) | |
| X | g.25013448C>A | CA412612936 | ARX | c.547G>T (p.Val183Leu) | gnomAD v4 |
| X | g.25013448C>G | CA412612937 | ARX | c.547G>C (p.Val183Leu) | |
| X | g.25013448C>T | CA412612938 | ARX | c.547G>A (p.Val183Met) | gnomAD v4 |
| X | g.25013449G>A | CA515948284 | ARX | c.546C>T (p.Phe182=) | gnomAD v4 |
| X | g.25013449G>C | CA412612940 | ARX | c.546C>G (p.Phe182Leu) | |
| X | g.25013449G>T | CA412612939 | ARX | c.546C>A (p.Phe182Leu) | gnomAD v4 |
| X | g.25013450A>C | CA412612941 | ARX | c.545T>G (p.Phe182Cys) | |
| X | g.25013450A>G | CA412612942 | ARX | c.545T>C (p.Phe182Ser) | gnomAD v4 |
| X | g.25013450A>T | CA412612943 | ARX | c.545T>A (p.Phe182Tyr) | gnomAD v4 |
| X | g.25013451del | CA2693353702 | ARX | c.545del (p.Phe182SerfsTer?) | gnomAD v4 |
| X | g.25013451A>C | CA412612944 | ARX | c.544T>G (p.Phe182Val) | gnomAD v4 |
| X | g.25013451A>G | CA412612945 | ARX | c.544T>C (p.Phe182Leu) | gnomAD v4 |
| X | g.25013451A>T | CA412612946 | ARX | c.544T>A (p.Phe182Ile) | gnomAD v4 |
| X | g.25013452G>A | CA289511 | ARX | c.543C>T (p.Pro181=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013452G>C | CA515948293 | ARX | c.543C>G (p.Pro181=) | |
| X | g.25013452G= | CA2420209275 | ARX | c.543C= (p.Pro181=) | |
| X | g.25013452G>T | CA515948294 | ARX | c.543C>A (p.Pro181=) | gnomAD v4 |
| X | g.25013453G>A | CA412612947 | ARX | c.542C>T (p.Pro181Leu) | gnomAD v4 |
| X | g.25013453G>C | CA412612948 | ARX | c.542C>G (p.Pro181Arg) | |
| X | g.25013453G>T | CA412612949 | ARX | c.542C>A (p.Pro181His) | gnomAD v4 |
| X | g.25013454G>A | CA412612950 | ARX | c.541C>T (p.Pro181Ser) | ClinVar gnomAD v4 |
| X | g.25013454G>C | CA412612951 | ARX | c.541C>G (p.Pro181Ala) | gnomAD v4 |
| X | g.25013454G>T | CA412612952 | ARX | c.541C>A (p.Pro181Thr) | ClinVar dbSNP gnomAD v4 |
| X | g.25013455C>A | CA241831 | ARX | c.540G>T (p.Ala180=) | ClinVar dbSNP gnomAD v4 |
| X | g.25013455C= | CA2420209276 | ARX | c.540G= (p.Ala180=) | |
| X | g.25013455C>G | CA515947493 | ARX | c.540G>C (p.Ala180=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013455C>T | CA515947492 | ARX | c.540G>A (p.Ala180=) | ClinVar dbSNP gnomAD v4 |
| X | g.25013456G>A | CA412612954 | ARX | c.539C>T (p.Ala180Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013456G>C | CA412612953 | ARX | c.539C>G (p.Ala180Gly) | gnomAD v4 |
| X | g.25013456G= | CA2420209277 | ARX | c.539C= (p.Ala180=) | |
| X | g.25013456G>T | CA412612955 | ARX | c.539C>A (p.Ala180Glu) | gnomAD v4 |
| X | g.25013457C>A | CA412612956 | ARX | c.538G>T (p.Ala180Ser) | gnomAD v4 |