| X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del
| ClinVar |
| X | g.25013523_25013563del | CA2580100523 | ARX | c.435_475del (p.Ala146GlnfsTer?)
| ClinVar |
| X | g.25013523_25013572del | CA2739290436 | ARX | c.426_475del (p.Gly143GlnfsTer?)
| |
| X | g.25013528_25013557del | CA2693353712 | ARX | c.440_469del (p.Ala147_Trp156del)
| gnomAD v4 |
| X | g.25013529_25013544delinsAGGCCGCGGCGGCCGC | CA2420209303 | ARX | c.451_466delinsGCGGCCGCCGCGGCCT (p.Ala151=)
| |
| X | g.25013529_25013562delinsAGGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGC | CA2420209300 | ARX | c.433_466delinsGCCGCGGCAGCCGCGGCCGCGGCCGCCGCGGCCT (p.Ala145=)
| |
| X | g.25013539_25013547dup | CA1131757211 | ARX | c.457_465dup (p.Ala155_Trp156insAlaAlaAla)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013539_25013547del | CA209727 | ARX | c.457_465del (p.Ala153_Ala155del)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013539_25013553dup | CA874147673 | ARX | c.451_465dup (p.Ala155_Trp156insAlaAlaAlaAlaAla)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013539_25013553del | CA10373897 | ARX | c.451_465del (p.Ala151_Ala155del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013530_25013554delinsGGCCGCGGCGGCCGCGGCCGCGGCT | CA2420209304 | ARX | c.441_465delinsAGCCGCGGCCGCGGCCGCCGCGGCC (p.Ala147=)
| |
| X | g.25013534_25013566del | CA641364634 | ARX | c.433_465del (p.Ala145_Ala155del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013532_25013545del | CA2697553016 | ARX | c.451_464del (p.Ala151LeufsTer?)
| |
| 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.25013532_25013554del | CA2693353715 | ARX | c.441_463del (p.Ala148LeufsTer?)
| gnomAD v4 |
| X | g.25013539_25013565dup | CA128798 | ARX | c.435_461dup (p.Ala154_Ala155insAlaAlaAlaAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP |
| X | g.25013537_25013572dup | CA213332 | ARX | c.426_461dup (p.Ala154_Ala155insGlyAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP |
| X | g.25013536_25013557delinsGGCGGCCGCGGCCGCGGCTGCC | CA2420209310 | ARX | c.438_459delinsGGCAGCCGCGGCCGCGGCCGCC (p.Ala146=)
| |
| X | g.25013538_25013619del | CA2580100527 | ARX | c.378_459del (p.Pro127ArgfsTer14)
| ClinVar |
| X | g.25013548_25013553dup | CA224125 | ARX | c.453_458dup (p.Ala153_Ala154insAlaAla)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013548_25013553del | CA327733054 | ARX | c.453_458del (p.Ala152_Ala153del)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013542_25013562del | CA916083873 | ARX | c.438_458del (p.Ala147_Ala153del)
| ClinVar dbSNP gnomAD v4 |
| X | g.25013540_25013572dup | CA658656855 | ARX | c.426_458dup (p.Ala153_Ala154insGlyAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP gnomAD v4 |
| X | g.25013539_25013554delinsGGCCGCGGCCGCGGCT | CA2420209312 | ARX | c.441_456delinsAGCCGCGGCCGCGGCC (p.Ala147=)
| |
| X | g.25013542_25013550del | CA2693353722 | ARX | c.447_455del (p.Ala150_Ala152del)
| gnomAD v4 |
| X | g.25013548_25013562dup | CA915950796 | ARX | c.441_455dup (p.Ala152_Ala153insAlaAlaAlaAlaAla)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013548_25013562del | CA10373899 | ARX | c.441_455del (p.Ala148_Ala152del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 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.25013542_25013554del | CA2693353724 | ARX | c.441_453del (p.Ala148ProfsTer16)
| 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.25013544C>A | CA412613157 | ARX | c.451G>T (p.Ala151Ser)
| gnomAD v4 |
| X | g.25013544C>G | CA412613159 | ARX | c.451G>C (p.Ala151Pro)
| |
| X | g.25013544C>T | CA412613158 | ARX | c.451G>A (p.Ala151Thr)
| gnomAD v4 |
| 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.25013545G>A | CA515947685 | ARX | c.450C>T (p.Ala150=)
| gnomAD v4 |
| X | g.25013545G>C | CA515947683 | ARX | c.450C>G (p.Ala150=)
| gnomAD v4 |
| X | g.25013545G= | CA2420209319 | ARX | c.450C= (p.Ala150=)
| |
| X | g.25013545G>T | CA515947684 | ARX | c.450C>A (p.Ala150=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013546G>A | CA412613162 | ARX | c.449C>T (p.Ala150Val)
| ClinVar dbSNP gnomAD v4 |
| X | g.25013546G>C | CA412613160 | ARX | c.449C>G (p.Ala150Gly)
| gnomAD v4 |
| X | g.25013546G= | CA2420209320 | ARX | c.449C= (p.Ala150=)
| |
| X | g.25013546G>T | CA412613161 | ARX | c.449C>A (p.Ala150Asp)
| gnomAD v4 |
| X | g.25013554_25013562del | CA2693353726 | ARX | c.441_449del (p.Ala148_Ala150del)
| gnomAD v4 |
| X | g.25013548_25013571dup | CA891843651 | ARX | c.426_449dup (p.Ala150_Ala151insGlyAlaAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013547C>A | CA412613163 | ARX | c.448G>T (p.Ala150Ser)
| gnomAD v4 |
