| 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.25013534_25013566del | CA641364634 | ARX | c.433_465del (p.Ala145_Ala155del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013543_25013566dup | CA213322 | ARX | c.441_464dup (p.Ala155_Trp156insAlaAlaAlaAlaAlaAlaAlaAla) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013543_25013566del | CA149543 | ARX | c.441_464del (p.Ala148_Ala155del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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.25013543_25013567delinsGCGGCCGCGGCTGCCGCGGCGGCCC | CA2420209317 | ARX | c.428_452delinsGGGCCGCCGCGGCAGCCGCGGCCGC (p.Gly143=) | |
| 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.25013545_25013568dup | CA121408 | ARX | c.428_451dup (p.Ala150_Ala151insGlyAlaAlaAlaAlaAlaAlaAla) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013545_25013568del | CA874147723 | ARX | c.428_451del (p.Gly143_Ala150del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013548_25013571dup | CA891843651 | ARX | c.426_449dup (p.Ala150_Ala151insGlyAlaAlaAlaAlaAlaAlaAla) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013558_25013566del | CA2693353729 | ARX | c.432_440del (p.Ala145_Ala147del) | gnomAD v4 |
| X | g.25013568del | CA2693353730 | ARX | c.430del (p.Ala144ProfsTer24) | gnomAD v4 |
| X | g.25013566C>A | CA515947745 | ARX | c.429G>T (p.Gly143=) | gnomAD v4 |
| X | g.25013566C>G | CA515947746 | ARX | c.429G>C (p.Gly143=) | |
| X | g.25013566C>T | CA515947747 | ARX | c.429G>A (p.Gly143=) | gnomAD v4 |
| X | g.25013567C>A | CA412613201 | ARX | c.428G>T (p.Gly143Val) | gnomAD v4 |
| X | g.25013567C= | CA2420209332 | ARX | c.428G= (p.Gly143=) | |
| X | g.25013567C>G | CA412613203 | ARX | c.428G>C (p.Gly143Ala) | ClinVar dbSNP gnomAD v4 |
| X | g.25013567C>T | CA412613202 | ARX | c.428G>A (p.Gly143Glu) | gnomAD v4 |
| X | g.25013568C>A | CA412613204 | ARX | c.427G>T (p.Gly143Trp) | gnomAD v4 |
| X | g.25013568C= | CA2420209333 | ARX | c.427G= (p.Gly143=) | |
| X | g.25013568C>G | CA412613205 | ARX | c.427G>C (p.Gly143Arg) | |
| X | g.25013568C>T | CA412613206 | ARX | c.427G>A (p.Gly143Arg) | dbSNP gnomAD v4 |
| X | g.25013569T>A | CA515947750 | ARX | c.426A>T (p.Ala142=) | ClinVar gnomAD v4 |
| X | g.25013569T>C | CA515947751 | ARX | c.426A>G (p.Ala142=) | gnomAD v4 |
| X | g.25013569T>G | CA515947753 | ARX | c.426A>C (p.Ala142=) | ClinVar |
| X | g.25013570G>A | CA412613207 | ARX | c.425C>T (p.Ala142Val) | |
| X | g.25013570G>C | CA412613208 | ARX | c.425C>G (p.Ala142Gly) | |
| X | g.25013570G>T | CA412613209 | ARX | c.425C>A (p.Ala142Glu) | |
| X | g.25013571C>A | CA412613210 | ARX | c.424G>T (p.Ala142Ser) | gnomAD v4 |
| X | g.25013571C>G | CA412613211 | ARX | c.424G>C (p.Ala142Pro) | gnomAD v4 |
| X | g.25013571C>T | CA412613212 | ARX | c.424G>A (p.Ala142Thr) | gnomAD v4 |
| 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) |