| 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.25013253C>A | CA412612521 | ARX | c.742G>T (p.Glu248Ter) | |
| X | g.25013253C= | CA2420209183 | ARX | c.742G= (p.Glu248=) | |
| X | g.25013253C>G | CA412612522 | ARX | c.742G>C (p.Glu248Gln) | ClinVar dbSNP |
| X | g.25013253C>T | CA412612523 | ARX | c.742G>A (p.Glu248Lys) | |
| X | g.25013254G>A | CA515947585 | ARX | c.741C>T (p.Asp247=) | gnomAD v4 |
| X | g.25013254G>C | CA412612524 | ARX | c.741C>G (p.Asp247Glu) | dbSNP gnomAD v4 |
| X | g.25013254G= | CA2420209184 | ARX | c.741C= (p.Asp247=) | |
| X | g.25013254G>T | CA412612525 | ARX | c.741C>A (p.Asp247Glu) | gnomAD v4 |
| X | g.25013255T>A | CA412612527 | ARX | c.740A>T (p.Asp247Val) | |
| X | g.25013255T>C | CA10373883 | ARX | c.740A>G (p.Asp247Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013255T>G | CA412612526 | ARX | c.740A>C (p.Asp247Ala) | |
| X | g.25013255T= | CA2420209185 | ARX | c.740A= (p.Asp247=) | |
| X | g.25013256C>A | CA412612528 | ARX | c.739G>T (p.Asp247Tyr) | |
| X | g.25013256C= | CA2420209186 | ARX | c.739G= (p.Asp247=) | |
| X | g.25013256C>G | CA10373884 | ARX | c.739G>C (p.Asp247His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013256C>T | CA412612529 | ARX | c.739G>A (p.Asp247Asn) | dbSNP gnomAD v2 |
| X | g.25013257G>A | CA10373885 | ARX | c.738C>T (p.Asp246=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013257G>C | CA412612531 | ARX | c.738C>G (p.Asp246Glu) | dbSNP gnomAD v4 |
| X | g.25013257G= | CA2420209187 | ARX | c.738C= (p.Asp246=) | |
| X | g.25013257G>T | CA412612530 | ARX | c.738C>A (p.Asp246Glu) | gnomAD v4 |
| X | g.25013258T>A | CA412612532 | ARX | c.737A>T (p.Asp246Val) | |
| X | g.25013258T>C | CA412612533 | ARX | c.737A>G (p.Asp246Gly) | dbSNP gnomAD v2 |
| X | g.25013258T>G | CA412612534 | ARX | c.737A>C (p.Asp246Ala) | |
| X | g.25013258T= | CA2420209188 | ARX | c.737A= (p.Asp246=) | |
| X | g.25013259C>A | CA412612535 | ARX | c.736G>T (p.Asp246Tyr) | gnomAD v4 |
| X | g.25013259C>G | CA412612536 | ARX | c.736G>C (p.Asp246His) | |
| X | g.25013259C>T | CA412612537 | ARX | c.736G>A (p.Asp246Asn) | |
| X | g.25013260C>A | CA412612538 | ARX | c.735G>T (p.Glu245Asp) | gnomAD v4 |
| X | g.25013260C>G | CA412612539 | ARX | c.735G>C (p.Glu245Asp) | |
| X | g.25013260C>T | CA515947597 | ARX | c.735G>A (p.Glu245=) | |
| X | g.25013261T>A | CA412612540 | ARX | c.734A>T (p.Glu245Val) | |
| X | g.25013261T>C | CA412612541 | ARX | c.734A>G (p.Glu245Gly) | |
| X | g.25013261T>G | CA412612542 | ARX | c.734A>C (p.Glu245Ala) | |
| X | g.25013262C>A | CA412612545 | ARX | c.733G>T (p.Glu245Ter) | gnomAD v4 |
| X | g.25013262C>G | CA412612543 | ARX | c.733G>C (p.Glu245Gln) | |
| X | g.25013262C>T | CA412612544 | ARX | c.733G>A (p.Glu245Lys) | |
| X | g.25013263C>A | CA515947602 | ARX | c.732G>T (p.Leu244=) | |
| X | g.25013263C= | CA2420209189 | ARX | c.732G= (p.Leu244=) | |
| X | g.25013263C>G | CA515947603 | ARX | c.732G>C (p.Leu244=) | |
| X | g.25013263C>T | CA515947604 | ARX | c.732G>A (p.Leu244=) | dbSNP |
| X | g.25013264A>C | CA412612546 | ARX | c.731T>G (p.Leu244Arg) | |
| X | g.25013264A>G | CA412612547 | ARX | c.731T>C (p.Leu244Pro) | ClinVar |