| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
| X | g.25013230_25013293delinsGTCGTCCTCCAGCAGCTCCTCCTCGTCGTCCTCCAGCAGTTCCTCTTCCTCGTCCTCATCTTCT | CA2420209173 | ARX | c.702_765delinsAGAAGATGAGGACGAGGAAGAGGAACTGCTGGAGGACGACGAGGAGGAGCTGCTGGAGGACGAC (p.Glu234=) | |
| X | g.25013263_25013325dup | CA2693353589 | ARX | c.702_764dup (p.Asp254_Asp255insGluGluAspGluAspGluGluGluGluLeuLeuGluAspAspGluGluGluLeuLeuGluAsp) | gnomAD v4 |
| X | g.25013263_25013325del | CA658799627 | ARX | c.702_764del (p.Glu234_Asp254del) | ClinVar dbSNP gnomAD v4 |
| X | g.25013278C>A | CA412612580 | ARX | c.717G>T (p.Glu239Asp) | |
| X | g.25013278C= | CA2420209192 | ARX | c.717G= (p.Glu239=) | |
| X | g.25013278C>G | CA412612581 | ARX | c.717G>C (p.Glu239Asp) | |
| X | g.25013278C>T | CA515947637 | ARX | c.717G>A (p.Glu239=) | ClinVar dbSNP |
| X | g.25013279T>A | CA412612582 | ARX | c.716A>T (p.Glu239Val) | |
| X | g.25013279T>C | CA412612583 | ARX | c.716A>G (p.Glu239Gly) | |
| X | g.25013279T>G | CA412612584 | ARX | c.716A>C (p.Glu239Ala) | |
| X | g.25013280C>A | CA412612586 | ARX | c.715G>T (p.Glu239Ter) | gnomAD v4 |
| X | g.25013280C>G | CA412612587 | ARX | c.715G>C (p.Glu239Gln) | |
| X | g.25013280C>T | CA412612585 | ARX | c.715G>A (p.Glu239Lys) | |
| X | g.25013281G>A | CA515947642 | ARX | c.714C>T (p.Asp238=) | ClinVar gnomAD v4 |
| X | g.25013281G>C | CA412612589 | ARX | c.714C>G (p.Asp238Glu) | ClinVar dbSNP |
| X | g.25013281G= | CA2420209193 | ARX | c.714C= (p.Asp238=) | |
| X | g.25013281G>T | CA412612588 | ARX | c.714C>A (p.Asp238Glu) | gnomAD v4 |
| X | g.25013282T>A | CA412612590 | ARX | c.713A>T (p.Asp238Val) | ClinVar |
| X | g.25013282T>C | CA412612591 | ARX | c.713A>G (p.Asp238Gly) | |
| X | g.25013282T>G | CA412612592 | ARX | c.713A>C (p.Asp238Ala) | |
| X | g.25013283C>A | CA412612593 | ARX | c.712G>T (p.Asp238Tyr) | gnomAD v4 |
| X | g.25013283C= | CA2420209194 | ARX | c.712G= (p.Asp238=) | |
| X | g.25013283C>G | CA412612594 | ARX | c.712G>C (p.Asp238His) | |
| X | g.25013283C>T | CA412612595 | ARX | c.712G>A (p.Asp238Asn) | dbSNP gnomAD v2 |
| X | g.25013284C>A | CA412612596 | ARX | c.711G>T (p.Glu237Asp) | gnomAD v4 |
| X | g.25013284C>G | CA412612597 | ARX | c.711G>C (p.Glu237Asp) | |
| X | g.25013284C>T | CA515947652 | ARX | c.711G>A (p.Glu237=) | ClinVar gnomAD v4 |
| X | g.25013285T>A | CA412612598 | ARX | c.710A>T (p.Glu237Val) | |
| X | g.25013285T>C | CA412612599 | ARX | c.710A>G (p.Glu237Gly) | gnomAD v4 |
| X | g.25013285T>G | CA412612600 | ARX | c.710A>C (p.Glu237Ala) | |
| X | g.25013286C>A | CA412612603 | ARX | c.709G>T (p.Glu237Ter) | |
| X | g.25013286C>G | CA412612601 | ARX | c.709G>C (p.Glu237Gln) | |
| X | g.25013286C>T | CA412612602 | ARX | c.709G>A (p.Glu237Lys) | |
| X | g.25013287A= | CA2420209195 | ARX | c.708T= (p.Asp236=) | |
| X | g.25013287A>C | CA412612604 | ARX | c.708T>G (p.Asp236Glu) | |
| X | g.25013287A>G | CA10373886 | ARX | c.708T>C (p.Asp236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013287A>T | CA412612605 | ARX | c.708T>A (p.Asp236Glu) | |
| X | g.25013287_25013290delinsATCT | CA2420209196 | ARX | c.705_708delinsAGAT (p.Glu235=) | |
| X | g.25013288T>A | CA412612606 | ARX | c.707A>T (p.Asp236Val) | gnomAD v4 |
| X | g.25013288T>C | CA412612607 | ARX | c.707A>G (p.Asp236Gly) | |
| X | g.25013288T>G | CA412612608 | ARX | c.707A>C (p.Asp236Ala) | |
| X | g.25013293_25013295del | CA2420209197 | ARX | c.705_707del (p.Glu235del) | dbSNP gnomAD v4 |
| X | g.25013289C>A | CA412612609 | ARX | c.706G>T (p.Asp236Tyr) | |
| X | g.25013289C= | CA2420209198 | ARX | c.706G= (p.Asp236=) | |
| X | g.25013289C>G | CA412612610 | ARX | c.706G>C (p.Asp236His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013289C>T | CA412612611 | ARX | c.706G>A (p.Asp236Asn) | |
| X | g.25013290T>A | CA412612612 | ARX | c.705A>T (p.Glu235Asp) | |
| X | g.25013290T>C | CA515947670 | ARX | c.705A>G (p.Glu235=) | |
| X | g.25013290T>G | CA412612613 | ARX | c.705A>C (p.Glu235Asp) |