| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
| X | g.25013523_25013572del | CA2739290436 | ARX | c.426_475del (p.Gly143GlnfsTer?) | |
| X | g.25013537_25013572dup | CA213332 | ARX | c.426_461dup (p.Ala154_Ala155insGlyAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) | ClinVar dbSNP |
| X | g.25013538_25013619del | CA2580100527 | ARX | c.378_459del (p.Pro127ArgfsTer14) | ClinVar |
| X | g.25013540_25013572dup | CA658656855 | ARX | c.426_458dup (p.Ala153_Ala154insGlyAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) | ClinVar dbSNP gnomAD v4 |
| X | g.25013544_25013575del | CA2573158500 | ARX | c.424_455del (p.Ala142ArgfsTer?) | ClinVar dbSNP |
| X | g.25013542_25013574del | CA2693353723 | ARX | c.422_454del (p.Gly141_Ala151del) | gnomAD v4 |
| X | g.25013546_25013572dup | CA2540630396 | ARX | c.426_452dup (p.Ala151_Ala152insGlyAlaAlaAlaAlaAlaAlaAlaAla) | |
| X | g.25013547_25013607del | CA2695232872 | ARX | c.392_452del (p.Pro131ArgfsTer17) | |
| X | g.25013572G>A | CA515947759 | ARX | c.423C>T (p.Gly141=) | gnomAD v4 |
| X | g.25013572G>C | CA515947760 | ARX | c.423C>G (p.Gly141=) | |
| X | g.25013572G>T | CA515947762 | ARX | c.423C>A (p.Gly141=) | |
| X | g.25013573C>A | CA412613214 | ARX | c.422G>T (p.Gly141Val) | gnomAD v4 |
| X | g.25013573C>G | CA412613215 | ARX | c.422G>C (p.Gly141Ala) | |
| X | g.25013573C>T | CA412613213 | ARX | c.422G>A (p.Gly141Asp) | |
| X | g.25013574C>A | CA412613216 | ARX | c.421G>T (p.Gly141Cys) | |
| X | g.25013574C= | CA2420209334 | ARX | c.421G= (p.Gly141=) | |
| X | g.25013574C>G | CA412613217 | ARX | c.421G>C (p.Gly141Arg) | |
| X | g.25013574C>T | CA412613218 | ARX | c.421G>A (p.Gly141Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.25013575G>A | CA515947763 | ARX | c.420C>T (p.Asp140=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013575G>C | CA412613219 | ARX | c.420C>G (p.Asp140Glu) | |
| X | g.25013575G>T | CA412613220 | ARX | c.420C>A (p.Asp140Glu) | |
| X | g.25013576T>A | CA412613221 | ARX | c.419A>T (p.Asp140Val) | |
| X | g.25013576T>C | CA412613222 | ARX | c.419A>G (p.Asp140Gly) | |
| X | g.25013576T>G | CA412613223 | ARX | c.419A>C (p.Asp140Ala) | |
| X | g.25013577C>A | CA327733056 | ARX | c.418G>T (p.Asp140Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013577C= | CA2420209335 | ARX | c.418G= (p.Asp140=) | |
| X | g.25013577C>G | CA412613224 | ARX | c.418G>C (p.Asp140His) | |
| X | g.25013577C>T | CA412613225 | ARX | c.418G>A (p.Asp140Asn) | dbSNP |
| X | g.25013578C>A | CA515947766 | ARX | c.417G>T (p.Pro139=) | gnomAD v4 |
| X | g.25013578C>G | CA515947767 | ARX | c.417G>C (p.Pro139=) | |
| X | g.25013578C>T | CA515947768 | ARX | c.417G>A (p.Pro139=) | |
| X | g.25013579G>A | CA412613227 | ARX | c.416C>T (p.Pro139Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013579G>C | CA412613228 | ARX | c.416C>G (p.Pro139Arg) | |
| X | g.25013579G= | CA2420209336 | ARX | c.416C= (p.Pro139=) | |
| X | g.25013579G>T | CA412613226 | ARX | c.416C>A (p.Pro139Gln) | dbSNP gnomAD v4 |
| X | g.25013580G>A | CA412613229 | ARX | c.415C>T (p.Pro139Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013580G>C | CA412613230 | ARX | c.415C>G (p.Pro139Ala) | |
| X | g.25013580G= | CA2420209337 | ARX | c.415C= (p.Pro139=) | |
| X | g.25013580G>T | CA412613231 | ARX | c.415C>A (p.Pro139Thr) | ClinVar dbSNP |
| X | g.25013581C>A | CA515947771 | ARX | c.414G>T (p.Arg138=) | ClinVar |
| X | g.25013581C= | CA2420209338 | ARX | c.414G= (p.Arg138=) | |
| X | g.25013581C>G | CA515947773 | ARX | c.414G>C (p.Arg138=) | dbSNP |
| X | g.25013581C>T | CA515947774 | ARX | c.414G>A (p.Arg138=) | ClinVar gnomAD v4 |
| X | g.25013582C>A | CA412613232 | ARX | c.413G>T (p.Arg138Leu) | |
| X | g.25013582C>G | CA412613233 | ARX | c.413G>C (p.Arg138Pro) | |
| X | g.25013582C>T | CA412613234 | ARX | c.413G>A (p.Arg138Gln) | |
| X | g.25013583G>A | CA412613235 | ARX | c.412C>T (p.Arg138Trp) | gnomAD v4 |
| X | g.25013583G>C | CA412613236 | ARX | c.412C>G (p.Arg138Gly) | |
| X | g.25013583G= | CA2420209339 | ARX | c.412C= (p.Arg138=) |