| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25004891_25007522dup | CA10575788 | ARX | c.1120-82_1469dup | ClinVar |
| X | g.25007406_25007408delinsTGC | CA2420207112 | ARX | c.1151_1153delinsGCA (p.Arg384=) | |
| X | g.25007407G>A | CA515947443 | ARX | c.1152C>T (p.Arg384=) | gnomAD v4 |
| X | g.25007407G>C | CA515947438 | ARX | c.1152C>G (p.Arg384=) | gnomAD v4 |
| X | g.25007407G>T | CA515947442 | ARX | c.1152C>A (p.Arg384=) | gnomAD v4 |
| X | g.25007409_25007410del | CA224120 | ARX | c.1151_1152del (p.Arg384GlnfsTer?) | ClinVar dbSNP |
| X | g.25007408C>A | CA412611620 | ARX | c.1151G>T (p.Arg384Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.25007408C= | CA2420207113 | ARX | c.1151G= (p.Arg384=) | |
| X | g.25007408C>G | CA412611621 | ARX | c.1151G>C (p.Arg384Pro) | |
| X | g.25007408C>T | CA16621885 | ARX | c.1151G>A (p.Arg384His) | ClinVar dbSNP gnomAD v4 |
| X | g.25007409G>A | CA412611622 | ARX | c.1150C>T (p.Arg384Cys) | ClinVar gnomAD v4 |
| X | g.25007409G>C | CA412611623 | ARX | c.1150C>G (p.Arg384Gly) | |
| X | g.25007409G>T | CA412611624 | ARX | c.1150C>A (p.Arg384Ser) | gnomAD v4 |
| X | g.25007410C>A | CA412611625 | ARX | c.1149G>T (p.Trp383Cys) | gnomAD v4 |
| X | g.25007410C>G | CA412611626 | ARX | c.1149G>C (p.Trp383Cys) | gnomAD v4 |
| X | g.25007410C>T | CA412611627 | ARX | c.1149G>A (p.Trp383Ter) | gnomAD v4 |
| X | g.25007411C>A | CA412611628 | ARX | c.1148G>T (p.Trp383Leu) | gnomAD v4 |
| X | g.25007411C>G | CA412611629 | ARX | c.1148G>C (p.Trp383Ser) | |
| X | g.25007411C>T | CA412611630 | ARX | c.1148G>A (p.Trp383Ter) | |
| X | g.25007412A>C | CA412611632 | ARX | c.1147T>G (p.Trp383Gly) | |
| X | g.25007412A>G | CA412611633 | ARX | c.1147T>C (p.Trp383Arg) | gnomAD v4 |
| X | g.25007412A>T | CA412611631 | ARX | c.1147T>A (p.Trp383Arg) | gnomAD v4 |
| X | g.25007413C>A | CA412611635 | ARX | c.1146G>T (p.Lys382Asn) | gnomAD v4 |
| X | g.25007413C>G | CA412611634 | ARX | c.1146G>C (p.Lys382Asn) | gnomAD v4 |
| X | g.25007413C>T | CA515947454 | ARX | c.1146G>A (p.Lys382=) | |
| X | g.25007414T>A | CA412611637 | ARX | c.1145A>T (p.Lys382Met) | gnomAD v4 |
| X | g.25007414T>C | CA412611636 | ARX | c.1145A>G (p.Lys382Arg) | gnomAD v4 |
| X | g.25007414T>G | CA412611638 | ARX | c.1145A>C (p.Lys382Thr) | |
| X | g.25007415T>A | CA412611639 | ARX | c.1144A>T (p.Lys382Ter) | gnomAD v4 |
| X | g.25007415T>C | CA412611641 | ARX | c.1144A>G (p.Lys382Glu) | |
| X | g.25007415T>G | CA412611640 | ARX | c.1144A>C (p.Lys382Gln) | |
| X | g.25007416G>A | CA515947462 | ARX | c.1143C>T (p.Ala381=) | ClinVar gnomAD v4 |
| X | g.25007416G>C | CA515947460 | ARX | c.1143C>G (p.Ala381=) | |
| X | g.25007416G>T | CA515947458 | ARX | c.1143C>A (p.Ala381=) | gnomAD v4 |
| X | g.25007417G>A | CA412611642 | ARX | c.1142C>T (p.Ala381Val) | gnomAD v4 |
| X | g.25007417G>C | CA412611643 | ARX | c.1142C>G (p.Ala381Gly) | ClinVar |
| X | g.25007417G>T | CA412611644 | ARX | c.1142C>A (p.Ala381Asp) | gnomAD v4 |
| X | g.25007417_25007418delinsGC | CA2420207114 | ARX | c.1141_1142delinsGC (p.Ala381=) | |
| X | g.25007418C>A | CA412611645 | ARX | c.1141G>T (p.Ala381Ser) | gnomAD v4 |
| X | g.25007418C= | CA2420207115 | ARX | c.1141G= (p.Ala381=) | |
| X | g.25007418C>G | CA412611646 | ARX | c.1141G>C (p.Ala381Pro) | |
| X | g.25007418C>T | CA294628 | ARX | c.1141G>A (p.Ala381Thr) | ClinVar dbSNP gnomAD v4 |
| X | g.25007420del | CA645373293 | ARX | c.1141del (p.Ala381ProfsTer?) | ClinVar dbSNP |
| X | g.25007419C>A | CA515947466 | ARX | c.1140G>T (p.Arg380=) | gnomAD v4 |
| X | g.25007419C>G | CA515947467 | ARX | c.1140G>C (p.Arg380=) | |
| X | g.25007419C>T | CA515947468 | ARX | c.1140G>A (p.Arg380=) | gnomAD v4 |
| X | g.25007420C>A | CA327732624 | ARX | c.1139G>T (p.Arg380Leu) | dbSNP gnomAD v4 |
| X | g.25007420C= | CA2420207116 | ARX | c.1139G= (p.Arg380=) | |
| X | g.25007420C>G | CA412611647 | ARX | c.1139G>C (p.Arg380Pro) | |
| X | g.25007420C>T | CA412611648 | ARX | c.1139G>A (p.Arg380Gln) | gnomAD v4 |