| 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.25013527_25013539delinsCCAGGCCGCGGCG | CA2420209297 | ARX | c.456_468delinsCGCCGCGGCCTGG (p.Ala152=)
| |
| X | g.25013528_25013539del | CA10373896 | ARX | c.456_467del (p.Ala153_Trp156del)
| dbSNP ExAC |
| X | g.25013528_25013543delinsCAGGCCGCGGCGGCCG | CA2420209299 | ARX | c.452_467delinsCGGCCGCCGCGGCCTG (p.Ala151=)
| |
| X | g.25013529_25013543del | CA874147637 | ARX | c.452_466del (p.Ala151_Trp156delinsGly)
| dbSNP gnomAD v3 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)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013539_25013547del | CA209727 | ARX | c.457_465del (p.Ala153_Ala155del)
| ClinVar 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?)
| ClinVar |
| 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.25013536_25013541dup | CA2693353717 | ARX | c.456_461dup (p.Ala154_Ala155insAlaAla)
| gnomAD v4 |
| X | g.25013539_25013541del | CA2579576418 | ARX | c.459_461del (p.Ala154del)
| 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_25013542delinsGGCGGCC | CA2420209308 | ARX | c.453_459delinsGGCCGCC (p.Ala151=)
| |
| 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)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013548_25013553del | CA327733054 | ARX | c.453_458del (p.Ala152_Ala153del)
| ClinVar 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.25013539G>A | CA515947666 | ARX | c.456C>T (p.Ala152=)
| ClinVar gnomAD v4 |
| X | g.25013539G>C | CA515947667 | ARX | c.456C>G (p.Ala152=)
| ClinVar gnomAD v4 |
| X | g.25013539G= | CA2420209313 | ARX | c.456C= (p.Ala152=)
| |
| X | g.25013539G>T | CA515947668 | ARX | c.456C>A (p.Ala152=)
| ClinVar dbSNP gnomAD v4 |
| X | g.25013539_25013540del | CA2693353721 | ARX | c.455_456del (p.Ala152GlyfsTer?)
| gnomAD v4 |
| X | g.25013539_25013554delinsGGCCGCGGCCGCGGCT | CA2420209312 | ARX | c.441_456delinsAGCCGCGGCCGCGGCC (p.Ala147=)
| |
| X | g.25013540G>A | CA412613149 | ARX | c.455C>T (p.Ala152Val)
| gnomAD v4 |
| X | g.25013540G>C | CA412613150 | ARX | c.455C>G (p.Ala152Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013540G= | CA2420209314 | ARX | c.455C= (p.Ala152=)
| |
| X | g.25013540G>T | CA412613151 | ARX | c.455C>A (p.Ala152Asp)
| gnomAD v4 |
| 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.25013541C>A | CA412613152 | ARX | c.454G>T (p.Ala152Ser)
| gnomAD v4 |
| X | g.25013541C= | CA2420209315 | ARX | c.454G= (p.Ala152=)
| |
| X | g.25013541C>G | CA412613153 | ARX | c.454G>C (p.Ala152Pro)
| gnomAD v3 gnomAD v4 |
| X | g.25013541C>T | CA233287 | ARX | c.454G>A (p.Ala152Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013542_25013574del | CA2693353723 | ARX | c.422_454del (p.Gly141_Ala151del)
| gnomAD v4 |
