| 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_25013538delinsAGGCCGCGGC | CA2420209302 | ARX | c.457_466delinsGCCGCGGCCT (p.Ala153=)
| |
| 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.25013531del | CA2693353714 | ARX | c.465del (p.Trp156GlyfsTer12)
| gnomAD v4 |
| X | g.25013530_25013532del | CA2499226595 | ARX | c.463_465del (p.Ala155del)
| ClinVar dbSNP |
| 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.25013531G>A | CA412613133 | ARX | c.464C>T (p.Ala155Val)
| gnomAD v4 |
| X | g.25013531G>C | CA412613134 | ARX | c.464C>G (p.Ala155Gly)
| |
| X | g.25013531G>T | CA412613132 | ARX | c.464C>A (p.Ala155Asp)
| 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.25013532C>A | CA412613136 | ARX | c.463G>T (p.Ala155Ser)
| gnomAD v4 |
| X | g.25013532C>G | CA412613137 | ARX | c.463G>C (p.Ala155Pro)
| |
| X | g.25013532C>T | CA412613135 | ARX | c.463G>A (p.Ala155Thr)
| gnomAD v4 |
| X | g.25013532_25013554del | CA2693353715 | ARX | c.441_463del (p.Ala148LeufsTer?)
| gnomAD v4 |
| X | g.25013533C>A | CA515947646 | ARX | c.462G>T (p.Ala154=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013533C= | CA2420209305 | ARX | c.462G= (p.Ala154=)
| |
| X | g.25013533C>G | CA515947648 | ARX | c.462G>C (p.Ala154=)
| ClinVar dbSNP gnomAD v4 |
| X | g.25013533C>T | CA515947647 | ARX | c.462G>A (p.Ala154=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013535_25013536del | CA2693353716 | ARX | c.461_462del (p.Ala154GlyfsTer?)
| gnomAD v4 |
| X | g.25013534G>A | CA412613138 | ARX | c.461C>T (p.Ala154Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013534G>C | CA412613139 | ARX | c.461C>G (p.Ala154Gly)
| |
| X | g.25013534G= | CA2420209306 | ARX | c.461C= (p.Ala154=)
| |
| X | g.25013534G>T | CA412613140 | ARX | c.461C>A (p.Ala154Glu)
| 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.25013535C>A | CA412613141 | ARX | c.460G>T (p.Ala154Ser)
| gnomAD v4 |
| X | g.25013535C= | CA2420209307 | ARX | c.460G= (p.Ala154=)
| |
| X | g.25013535C>G | CA10373898 | ARX | c.460G>C (p.Ala154Pro)
| dbSNP ExAC gnomAD v4 |
| X | g.25013535C>T | CA412613142 | ARX | c.460G>A (p.Ala154Thr)
| gnomAD v4 |
| X | g.25013535dup | CA2693353718 | ARX | c.460dup (p.Ala154GlyfsTer?)
| gnomAD v4 |
| X | g.25013536G>A | CA515947656 | ARX | c.459C>T (p.Ala153=)
| gnomAD v4 |
| X | g.25013536G>C | CA515947657 | ARX | c.459C>G (p.Ala153=)
| gnomAD v4 |
| X | g.25013536G= | CA2420209309 | ARX | c.459C= (p.Ala153=)
| |
