| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
| X | g.25013245_25013268dup | CA2693353584 | ARX | c.743_766dup (p.Asp255_Ala256insGluGluGluLeuLeuGluAspAsp) | gnomAD v4 |
| X | g.25013245_25013268del | CA641364630 | ARX | c.743_766del (p.Glu248_Asp255del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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.25013245_25013269delinsCTCCTCCTCGTCGTCCTCCAGCAGT | CA2420209177 | ARX | c.726_750delinsACTGCTGGAGGACGACGAGGAGGAG (p.Glu242=) | |
| X | g.25013251_25013274del | CA1131757043 | ARX | c.726_749del (p.Leu243_Glu250del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013264A>C | CA412612546 | ARX | c.731T>G (p.Leu244Arg) | |
| X | g.25013264A>G | CA412612547 | ARX | c.731T>C (p.Leu244Pro) | ClinVar |
| X | g.25013264A>T | CA412612548 | ARX | c.731T>A (p.Leu244Gln) | |
| X | g.25013265G>A | CA515947605 | ARX | c.730C>T (p.Leu244=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013265G>C | CA412612549 | ARX | c.730C>G (p.Leu244Val) | |
| X | g.25013265G= | CA2420209190 | ARX | c.730C= (p.Leu244=) | |
| X | g.25013265G>T | CA412612550 | ARX | c.730C>A (p.Leu244Met) | gnomAD v4 |
| X | g.25013266C>A | CA515947609 | ARX | c.729G>T (p.Leu243=) | gnomAD v4 |
| X | g.25013266C= | CA2420209191 | ARX | c.729G= (p.Leu243=) | |
| X | g.25013266C>G | CA515947611 | ARX | c.729G>C (p.Leu243=) | |
| X | g.25013266C>T | CA515947612 | ARX | c.729G>A (p.Leu243=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013267A>C | CA412612551 | ARX | c.728T>G (p.Leu243Arg) | |
| X | g.25013267A>G | CA412612552 | ARX | c.728T>C (p.Leu243Pro) | |
| X | g.25013267A>T | CA412612553 | ARX | c.728T>A (p.Leu243Gln) | |
| X | g.25013268G>A | CA515947615 | ARX | c.727C>T (p.Leu243=) | |
| X | g.25013268G>C | CA412612554 | ARX | c.727C>G (p.Leu243Val) | |
| X | g.25013268G>T | CA412612555 | ARX | c.727C>A (p.Leu243Met) | gnomAD v4 |
| X | g.25013269T>A | CA412612557 | ARX | c.726A>T (p.Glu242Asp) | |
| X | g.25013269T>C | CA515947620 | ARX | c.726A>G (p.Glu242=) | |
| X | g.25013269T>G | CA412612556 | ARX | c.726A>C (p.Glu242Asp) | |
| X | g.25013270T>A | CA412612558 | ARX | c.725A>T (p.Glu242Val) | |
| X | g.25013270T>C | CA412612559 | ARX | c.725A>G (p.Glu242Gly) | |
| X | g.25013270T>G | CA412612560 | ARX | c.725A>C (p.Glu242Ala) | |
| X | g.25013271C>A | CA412612561 | ARX | c.724G>T (p.Glu242Ter) | |
| X | g.25013271C>G | CA412612562 | ARX | c.724G>C (p.Glu242Gln) | |
| X | g.25013271C>T | CA412612563 | ARX | c.724G>A (p.Glu242Lys) | gnomAD v4 |
| X | g.25013272C>A | CA412612564 | ARX | c.723G>T (p.Glu241Asp) | gnomAD v4 COSMIC |
| X | g.25013272C>G | CA412612565 | ARX | c.723G>C (p.Glu241Asp) | |
| X | g.25013272C>T | CA515947626 | ARX | c.723G>A (p.Glu241=) | gnomAD v4 |
| X | g.25013273T>A | CA412612566 | ARX | c.722A>T (p.Glu241Val) | |
| X | g.25013273T>C | CA412612567 | ARX | c.722A>G (p.Glu241Gly) | gnomAD v4 |
| X | g.25013273T>G | CA412612568 | ARX | c.722A>C (p.Glu241Ala) | |
| X | g.25013274C>A | CA412612571 | ARX | c.721G>T (p.Glu241Ter) | gnomAD v4 |
| X | g.25013274C>G | CA412612570 | ARX | c.721G>C (p.Glu241Gln) | |
| X | g.25013274C>T | CA412612569 | ARX | c.721G>A (p.Glu241Lys) | |
| X | g.25013275T>A | CA412612572 | ARX | c.720A>T (p.Glu240Asp) | |
| X | g.25013275T>C | CA515947633 | ARX | c.720A>G (p.Glu240=) | |
| X | g.25013275T>G | CA412612573 | ARX | c.720A>C (p.Glu240Asp) | |
| X | g.25013276T>A | CA412612574 | ARX | c.719A>T (p.Glu240Val) | |
| X | g.25013276T>C | CA412612575 | ARX | c.719A>G (p.Glu240Gly) | COSMIC |
| X | g.25013276T>G | CA412612576 | ARX | c.719A>C (p.Glu240Ala) | |
| X | g.25013277C>A | CA412612577 | ARX | c.718G>T (p.Glu240Ter) | gnomAD v4 |