X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del
| ClinVar |
X | g.25013447_25013547del | CA2820100839 | ARX | c.453_553del (p.Ala154ArgfsTer?)
| |
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.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.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=)
| |
X | g.25013536G>T | CA515947659 | ARX | c.459C>A (p.Ala153=)
| |
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.25013536_25013537insCGGCAGCC | CA2693353719 | ARX | c.458_459insGGCTGCCG (p.Trp156AlafsTer15)
| gnomAD v4 |
X | g.25013537G>A | CA412613143 | ARX | c.458C>T (p.Ala153Val)
| gnomAD v4 |
X | g.25013537G>C | CA412613144 | ARX | c.458C>G (p.Ala153Gly)
| |
X | g.25013537G>T | CA412613145 | ARX | c.458C>A (p.Ala153Asp)
| gnomAD v4 |
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.25013538del | CA2693353720 | ARX | c.457del (p.Ala153ProfsTer15)
| gnomAD v4 |
X | g.25013538C>A | CA412613148 | ARX | c.457G>T (p.Ala153Ser)
| gnomAD v4 |
X | g.25013538C= | CA2420209311 | ARX | c.457G= (p.Ala153=)
| |
X | g.25013538C>G | CA412613146 | ARX | c.457G>C (p.Ala153Pro)
| |
X | g.25013538C>T | CA412613147 | ARX | c.457G>A (p.Ala153Thr)
| 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.25013539_25013570del | CA2820100848 | ARX | c.425_456del (p.Ala142GlyfsTer?)
| |
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 |
X | g.25013542C>A | CA515947672 | ARX | c.453G>T (p.Ala151=)
| gnomAD v4 |
X | g.25013542C= | CA2420209316 | ARX | c.453G= (p.Ala151=)
| |
X | g.25013542C>G | CA10583941 | ARX | c.453G>C (p.Ala151=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013542C>T | CA515947676 | ARX | c.453G>A (p.Ala151=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013542_25013554del | CA2693353724 | ARX | c.441_453del (p.Ala148ProfsTer16)
| gnomAD v4 |
X | g.25013542_25013543insCCT | CA2693353725 | ARX | c.452_453insAGG (p.Ala151_Ala152insGly)
| gnomAD v4 |
X | g.25013543G>A | CA412613154 | ARX | c.452C>T (p.Ala151Val)
| ClinVar dbSNP gnomAD v4 |
X | g.25013543G>C | CA412613155 | ARX | c.452C>G (p.Ala151Gly)
| dbSNP gnomAD v4 |
X | g.25013543G= | CA2420209318 | ARX | c.452C= (p.Ala151=)
| |
X | g.25013543G>T | CA412613156 | ARX | c.452C>A (p.Ala151Glu)
| 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=)
| ClinVar 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)
| ClinVar 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 |
X | g.25013547C>G | CA412613164 | ARX | c.448G>C (p.Ala150Pro)
| |
X | g.25013547C>T | CA412613165 | ARX | c.448G>A (p.Ala150Thr)
| ClinVar gnomAD v4 |
X | g.25013548C>A | CA515947691 | ARX | c.447G>T (p.Ala149=)
| gnomAD v4 |
X | g.25013548C= | CA2420209321 | ARX | c.447G= (p.Ala149=)
| |
X | g.25013548C>G | CA10373900 | ARX | c.447G>C (p.Ala149=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013548C>T | CA515947693 | ARX | c.447G>A (p.Ala149=)
| gnomAD v4 |
X | g.25013549G>A | CA412613166 | ARX | c.446C>T (p.Ala149Val)
| ClinVar dbSNP gnomAD v4 |
X | g.25013549G>C | CA412613167 | ARX | c.446C>G (p.Ala149Gly)
| |
X | g.25013549G= | CA2420209322 | ARX | c.446C= (p.Ala149=)
| |
X | g.25013549G>T | CA412613168 | ARX | c.446C>A (p.Ala149Glu)
| ClinVar gnomAD v4 |
X | g.25013551_25013556dup | CA874147745 | ARX | c.441_446dup (p.Ala149_Ala150insAlaAla)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013551_25013556del | CA2499226596 | ARX | c.441_446del (p.Ala148_Ala149del)
| ClinVar dbSNP gnomAD v4 |
X | g.25013551_25013565del | CA2573158501 | ARX | c.432_446del (p.Ala145_Ala149del)
| ClinVar dbSNP gnomAD v4 |
X | g.25013550del | CA2693353727 | ARX | c.445del (p.Ala149ArgfsTer19)
| gnomAD v4 |
X | g.25013550C>A | CA412613169 | ARX | c.445G>T (p.Ala149Ser)
| gnomAD v4 |
X | g.25013550C>G | CA412613170 | ARX | c.445G>C (p.Ala149Pro)
| ClinVar gnomAD v4 |
X | g.25013550C>T | CA412613171 | ARX | c.445G>A (p.Ala149Thr)
| gnomAD v3 gnomAD v4 |
X | g.25013551G>A | CA515947696 | ARX | c.444C>T (p.Ala148=)
| gnomAD v4 |
X | g.25013551G>C | CA515947697 | ARX | c.444C>G (p.Ala148=)
| gnomAD v4 |
X | g.25013551G= | CA2420209323 | ARX | c.444C= (p.Ala148=)
| |
X | g.25013551G>T | CA515947698 | ARX | c.444C>A (p.Ala148=)
| gnomAD v4 |
X | g.25013552G>A | CA412613172 | ARX | c.443C>T (p.Ala148Val)
| gnomAD v4 |
X | g.25013552G>C | CA412613174 | ARX | c.443C>G (p.Ala148Gly)
| gnomAD v4 |
X | g.25013552G>T | CA412613173 | ARX | c.443C>A (p.Ala148Asp)
| gnomAD v4 |
X | g.25013553_25013554insAGCCGC | CA2693353728 | ARX | c.443_444insGGCTGC (p.Ala148_Ala149insAlaAla)
| gnomAD v4 |
X | g.25013553_25013554insGGCCGC | CA2420209324 | ARX | c.443_444insGGCCGC (p.Ala148_Ala149insAlaAla)
| ClinVar dbSNP |
X | g.25013554_25013556del | CA2579576419 | ARX | c.441_443del (p.Ala148del)
| |
X | g.25013553C>A | CA412613175 | ARX | c.442G>T (p.Ala148Ser)
| gnomAD v4 |
X | g.25013553C= | CA2420209325 | ARX | c.442G= (p.Ala148=)
| |
X | g.25013553C>G | CA412613176 | ARX | c.442G>C (p.Ala148Pro)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013553C>T | CA412613177 | ARX | c.442G>A (p.Ala148Thr)
| gnomAD v4 |
X | g.25013554T>A | CA515947708 | ARX | c.441A>T (p.Ala147=)
| ClinVar gnomAD v4 |
X | g.25013554T>C | CA208040 | ARX | c.441A>G (p.Ala147=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013554T>G | CA515947705 | ARX | c.441A>C (p.Ala147=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013554T= | CA2420209326 | ARX | c.441A= (p.Ala147=)
| |
X | g.25013555G>A | CA327733055 | ARX | c.440C>T (p.Ala147Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013555G>C | CA412613178 | ARX | c.440C>G (p.Ala147Gly)
| dbSNP |
X | g.25013555G= | CA2420209327 | ARX | c.440C= (p.Ala147=)
| |
X | g.25013555G>T | CA412613179 | ARX | c.440C>A (p.Ala147Glu)
| gnomAD v4 |
X | g.25013558_25013566del | CA2693353729 | ARX | c.432_440del (p.Ala145_Ala147del)
| gnomAD v4 |
X | g.25013556C>A | CA412613180 | ARX | c.439G>T (p.Ala147Ser)
| gnomAD v4 |
X | g.25013556C>G | CA412613181 | ARX | c.439G>C (p.Ala147Pro)
| |
X | g.25013556C>T | CA412613182 | ARX | c.439G>A (p.Ala147Thr)
| gnomAD v4 |
X | g.25013557C>A | CA515947715 | ARX | c.438G>T (p.Ala146=)
| |
X | g.25013557C>G | CA515947716 | ARX | c.438G>C (p.Ala146=)
| |
X | g.25013557C>T | CA515947717 | ARX | c.438G>A (p.Ala146=)
| gnomAD v4 |
X | g.25013558G>A | CA412613184 | ARX | c.437C>T (p.Ala146Val)
| ClinVar dbSNP gnomAD v4 |
X | g.25013558G>C | CA412613185 | ARX | c.437C>G (p.Ala146Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013558G= | CA2420209328 | ARX | c.437C= (p.Ala146=)
| |
X | g.25013558G>T | CA412613183 | ARX | c.437C>A (p.Ala146Glu)
| |
X | g.25013563_25013565del | CA2579576420 | ARX | c.435_437del (p.Ala146del)
| |
X | g.25013559C>A | CA412613186 | ARX | c.436G>T (p.Ala146Ser)
| gnomAD v4 |
X | g.25013559C>G | CA412613188 | ARX | c.436G>C (p.Ala146Pro)
| |
X | g.25013559C>T | CA412613187 | ARX | c.436G>A (p.Ala146Thr)
| gnomAD v4 |
X | g.25013560G>A | CA515947725 | ARX | c.435C>T (p.Ala145=)
| gnomAD v4 |
X | g.25013560G>C | CA515947727 | ARX | c.435C>G (p.Ala145=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013560G= | CA2420209329 | ARX | c.435C= (p.Ala145=)
| |
X | g.25013560G>T | CA515947728 | ARX | c.435C>A (p.Ala145=)
| gnomAD v4 |
X | g.25013561G>A | CA412613189 | ARX | c.434C>T (p.Ala145Val)
| gnomAD v4 |
X | g.25013561G>C | CA412613190 | ARX | c.434C>G (p.Ala145Gly)
| dbSNP gnomAD v4 |
X | g.25013561G>T | CA412613191 | ARX | c.434C>A (p.Ala145Asp)
| gnomAD v4 |
X | g.25013562C>A | CA412613192 | ARX | c.433G>T (p.Ala145Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013562C= | CA2420209330 | ARX | c.433G= (p.Ala145=)
| |
X | g.25013562C>G | CA412613193 | ARX | c.433G>C (p.Ala145Pro)
| |
X | g.25013562C>T | CA412613194 | ARX | c.433G>A (p.Ala145Thr)
| gnomAD v4 |
X | g.25013563G>A | CA515947737 | ARX | c.432C>T (p.Ala144=)
| ClinVar gnomAD v4 |
X | g.25013563G>C | CA515947739 | ARX | c.432C>G (p.Ala144=)
| ClinVar gnomAD v4 |
X | g.25013563G>T | CA515947741 | ARX | c.432C>A (p.Ala144=)
| gnomAD v4 |
X | g.25013564G>A | CA412613195 | ARX | c.431C>T (p.Ala144Val)
| gnomAD v4 |
X | g.25013564G>C | CA412613196 | ARX | c.431C>G (p.Ala144Gly)
| |
X | g.25013564G>T | CA412613197 | ARX | c.431C>A (p.Ala144Asp)
| gnomAD v4 |
X | g.25013565C>A | CA412613198 | ARX | c.430G>T (p.Ala144Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013565C= | CA2420209331 | ARX | c.430G= (p.Ala144=)
| |
X | g.25013565C>G | CA412613199 | ARX | c.430G>C (p.Ala144Pro)
| |
X | g.25013565C>T | CA412613200 | ARX | c.430G>A (p.Ala144Thr)
| 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)
| |
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=)
| |
X | g.25013583G>T | CA515947777 | ARX | c.412C>A (p.Arg138=)
| ClinVar dbSNP |
X | g.25013584T>A | CA412613237 | ARX | c.411A>T (p.Glu137Asp)
| |
X | g.25013584T>C | CA515947779 | ARX | c.411A>G (p.Glu137=)
| gnomAD v4 |
X | g.25013584T>G | CA412613238 | ARX | c.411A>C (p.Glu137Asp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013584T= | CA2420209340 | ARX | c.411A= (p.Glu137=)
| |
X | g.25013584_25013585insAGAA | CA2820100856 | ARX | c.410_411insTTCT (p.Glu137AspfsTer?)
| |
X | g.25013585T>A | CA412613239 | ARX | c.410A>T (p.Glu137Val)
| |
X | g.25013585T>C | CA412613240 | ARX | c.410A>G (p.Glu137Gly)
| |
X | g.25013585T>G | CA412613241 | ARX | c.410A>C (p.Glu137Ala)
| |
X | g.25013585T= | CA2420209341 | ARX | c.410A= (p.Glu137=)
| |
X | g.25013586C>A | CA412613242 | ARX | c.409G>T (p.Glu137Ter)
| gnomAD v4 |
X | g.25013586C= | CA2420209342 | ARX | c.409G= (p.Glu137=)
| |
X | g.25013586C>G | CA412613243 | ARX | c.409G>C (p.Glu137Gln)
| |
X | g.25013586C>T | CA16608412 | ARX | c.409G>A (p.Glu137Lys)
| ClinVar dbSNP |
X | g.25013589dup | CA213328 | ARX | c.409dup (p.Glu137GlyfsTer?)
| ClinVar dbSNP |
X | g.25013589del | CA2740092071 | ARX | c.409del (p.Glu137AsnfsTer?)
| ClinVar |
X | g.25013587C>A | CA515947786 | ARX | c.408G>T (p.Gly136=)
| |
X | g.25013587C>G | CA515947788 | ARX | c.408G>C (p.Gly136=)
| gnomAD v4 |
X | g.25013587C>T | CA515947790 | ARX | c.408G>A (p.Gly136=)
| gnomAD v4 |
X | g.25013588C>A | CA412613245 | ARX | c.407G>T (p.Gly136Val)
| |
X | g.25013588C>G | CA412613244 | ARX | c.407G>C (p.Gly136Ala)
| |
X | g.25013588C>T | CA412613246 | ARX | c.407G>A (p.Gly136Glu)
| |
X | g.25013589C>A | CA412613247 | ARX | c.406G>T (p.Gly136Trp)
| gnomAD v4 |
X | g.25013589C>G | CA412613248 | ARX | c.406G>C (p.Gly136Arg)
| gnomAD v4 |
X | g.25013589C>T | CA412613249 | ARX | c.406G>A (p.Gly136Arg)
| ClinVar dbSNP gnomAD v4 |
X | g.25013590G>A | CA515947793 | ARX | c.405C>T (p.Pro135=)
| gnomAD v4 |
X | g.25013590G>C | CA515947791 | ARX | c.405C>G (p.Pro135=)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013590G= | CA2420209343 | ARX | c.405C= (p.Pro135=)
| |
X | g.25013590G>T | CA515947792 | ARX | c.405C>A (p.Pro135=)
| |
X | g.25013591G>A | CA412613250 | ARX | c.404C>T (p.Pro135Leu)
| ClinVar dbSNP |
X | g.25013591G>C | CA412613251 | ARX | c.404C>G (p.Pro135Arg)
| |
X | g.25013591G= | CA2420209344 | ARX | c.404C= (p.Pro135=)
| |
X | g.25013591G>T | CA412613252 | ARX | c.404C>A (p.Pro135His)
| |
X | g.25013592G>A | CA412613253 | ARX | c.403C>T (p.Pro135Ser)
| gnomAD v4 |
X | g.25013592G>C | CA412613254 | ARX | c.403C>G (p.Pro135Ala)
| |
X | g.25013592G>T | CA412613255 | ARX | c.403C>A (p.Pro135Thr)
| |
X | g.25013593C>A | CA515947796 | ARX | c.402G>T (p.Arg134=)
| |
X | g.25013593C>G | CA515947797 | ARX | c.402G>C (p.Arg134=)
| |
X | g.25013593C>T | CA515947799 | ARX | c.402G>A (p.Arg134=)
| |
X | g.25013594C>A | CA412613256 | ARX | c.401G>T (p.Arg134Leu)
| |
X | g.25013594C= | CA2420209345 | ARX | c.401G= (p.Arg134=)
| |
X | g.25013594C>G | CA412613257 | ARX | c.401G>C (p.Arg134Pro)
| |
X | g.25013594C>T | CA412613258 | ARX | c.401G>A (p.Arg134Gln)
| dbSNP gnomAD v4 |
X | g.25013595G>A | CA412613260 | ARX | c.400C>T (p.Arg134Trp)
| gnomAD v4 |
X | g.25013595G>C | CA412613259 | ARX | c.400C>G (p.Arg134Gly)
| |
X | g.25013595G>T | CA515947803 | ARX | c.400C>A (p.Arg134=)
| |
X | g.25013596C>A | CA515947804 | ARX | c.399G>T (p.Ala133=)
| |
X | g.25013596C>G | CA515947805 | ARX | c.399G>C (p.Ala133=)
| |
X | g.25013596C>T | CA515947807 | ARX | c.399G>A (p.Ala133=)
| ClinVar dbSNP |
X | g.25013597G>A | CA412613261 | ARX | c.398C>T (p.Ala133Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013597G>C | CA412613262 | ARX | c.398C>G (p.Ala133Gly)
| |
X | g.25013597G= | CA2420209346 | ARX | c.398C= (p.Ala133=)
| |
X | g.25013597G>T | CA412613263 | ARX | c.398C>A (p.Ala133Glu)
| dbSNP |
X | g.25013598C>A | CA412613264 | ARX | c.397G>T (p.Ala133Ser)
| |
X | g.25013598C>G | CA412613265 | ARX | c.397G>C (p.Ala133Pro)
| |
X | g.25013598C>T | CA412613266 | ARX | c.397G>A (p.Ala133Thr)
| gnomAD v4 |
X | g.25013598_25013599insTCAAGATC | CA2820100857 | ARX | c.397_398insATCTTGAG (p.Ala133AspfsTer?)
| |
X | g.25013599G>A | CA515947813 | ARX | c.396C>T (p.Thr132=)
| |
X | g.25013599G>C | CA515947814 | ARX | c.396C>G (p.Thr132=)
| |
X | g.25013599G>T | CA515947816 | ARX | c.396C>A (p.Thr132=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013600G>A | CA412613267 | ARX | c.395C>T (p.Thr132Ile)
| ClinVar dbSNP |
X | g.25013600G>C | CA412613268 | ARX | c.395C>G (p.Thr132Ser)
| |
X | g.25013600G= | CA2420209347 | ARX | c.395C= (p.Thr132=)
| |
X | g.25013600G>T | CA412613269 | ARX | c.395C>A (p.Thr132Asn)
| |
X | g.25013601T>A | CA412613270 | ARX | c.394A>T (p.Thr132Ser)
| |
X | g.25013601T>C | CA412613271 | ARX | c.394A>G (p.Thr132Ala)
| |
X | g.25013601T>G | CA412613272 | ARX | c.394A>C (p.Thr132Pro)
| |
X | g.25013602T>A | CA515947818 | ARX | c.393A>T (p.Pro131=)
| |
X | g.25013602T>C | CA515947819 | ARX | c.393A>G (p.Pro131=)
| gnomAD v4 |
X | g.25013602T>G | CA515947820 | ARX | c.393A>C (p.Pro131=)
| |
X | g.25013603G>A | CA412613275 | ARX | c.392C>T (p.Pro131Leu)
| |
X | g.25013603G>C | CA412613274 | ARX | c.392C>G (p.Pro131Arg)
| |
X | g.25013603G>T | CA412613273 | ARX | c.392C>A (p.Pro131Gln)
| |
X | g.25013604G>A | CA412613276 | ARX | c.391C>T (p.Pro131Ser)
| |
X | g.25013604G>C | CA412613277 | ARX | c.391C>G (p.Pro131Ala)
| |
X | g.25013604G>T | CA412613278 | ARX | c.391C>A (p.Pro131Thr)
| |
X | g.25013606_25013640del | CA2580100528 | ARX | c.357_391del (p.Gly120AsnfsTer?)
| ClinVar |
X | g.25013605C>A | CA515947826 | ARX | c.390G>T (p.Pro130=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013605C>G | CA515947827 | ARX | c.390G>C (p.Pro130=)
| |
X | g.25013605C>T | CA515947830 | ARX | c.390G>A (p.Pro130=)
| gnomAD v4 |
X | g.25013606G>A | CA412613279 | ARX | c.389C>T (p.Pro130Leu)
| ClinVar dbSNP gnomAD v4 |
X | g.25013606G>C | CA412613280 | ARX | c.389C>G (p.Pro130Arg)
| |
X | g.25013606G= | CA2420209348 | ARX | c.389C= (p.Pro130=)
| |
X | g.25013606G>T | CA16621351 | ARX | c.389C>A (p.Pro130Gln)
| ClinVar dbSNP gnomAD v4 |
X | g.25013607G>A | CA412613281 | ARX | c.388C>T (p.Pro130Ser)
| gnomAD v4 |
X | g.25013607G>C | CA412613282 | ARX | c.388C>G (p.Pro130Ala)
| |
X | g.25013607G>T | CA412613283 | ARX | c.388C>A (p.Pro130Thr)
| ClinVar gnomAD v4 |
X | g.25013608T>A | CA515947836 | ARX | c.387A>T (p.Pro129=)
| |
X | g.25013608T>C | CA515947840 | ARX | c.387A>G (p.Pro129=)
| |
X | g.25013608T>G | CA515947838 | ARX | c.387A>C (p.Pro129=)
| ClinVar dbSNP |
X | g.25013608T= | CA2420209349 | ARX | c.387A= (p.Pro129=)
| |
X | g.25013609G>A | CA412613284 | ARX | c.386C>T (p.Pro129Leu)
| gnomAD v4 |
X | g.25013609G>C | CA412613285 | ARX | c.386C>G (p.Pro129Arg)
| |
X | g.25013609G>T | CA412613286 | ARX | c.386C>A (p.Pro129Gln)
| |
X | g.25013611_25013616dup | CA2693353731 | ARX | c.381_386dup (p.Pro129_Pro130insProPro)
| gnomAD v4 |
X | g.25013614_25013616del | CA2579576421 | ARX | c.384_386del (p.Pro129del)
| |
X | g.25013610G>A | CA412613289 | ARX | c.385C>T (p.Pro129Ser)
| |
X | g.25013610G>C | CA412613287 | ARX | c.385C>G (p.Pro129Ala)
| |
X | g.25013610G>T | CA412613288 | ARX | c.385C>A (p.Pro129Thr)
| gnomAD v4 |
X | g.25013611C>A | CA515947847 | ARX | c.384G>T (p.Pro128=)
| |
X | g.25013611C>G | CA515947848 | ARX | c.384G>C (p.Pro128=)
| |
X | g.25013611C>T | CA515947849 | ARX | c.384G>A (p.Pro128=)
| gnomAD v4 |
X | g.25013612G>A | CA412613290 | ARX | c.383C>T (p.Pro128Leu)
| dbSNP |
X | g.25013612G>C | CA412613291 | ARX | c.383C>G (p.Pro128Arg)
| |
X | g.25013612G= | CA2420209350 | ARX | c.383C= (p.Pro128=)
| |
X | g.25013612G>T | CA412613292 | ARX | c.383C>A (p.Pro128Gln)
| |
X | g.25013613G>A | CA412613293 | ARX | c.382C>T (p.Pro128Ser)
| gnomAD v4 |
X | g.25013613G>C | CA412613294 | ARX | c.382C>G (p.Pro128Ala)
| |
X | g.25013613G>T | CA412613295 | ARX | c.382C>A (p.Pro128Thr)
| |
X | g.25013614C>A | CA515947856 | ARX | c.381G>T (p.Pro127=)
| |
X | g.25013614C>G | CA515947857 | ARX | c.381G>C (p.Pro127=)
| |
X | g.25013614C>T | CA515947858 | ARX | c.381G>A (p.Pro127=)
| gnomAD v4 |
X | g.25013615G>A | CA412613296 | ARX | c.380C>T (p.Pro127Leu)
| |
X | g.25013615G>C | CA412613297 | ARX | c.380C>G (p.Pro127Arg)
| |
X | g.25013615G>T | CA412613298 | ARX | c.380C>A (p.Pro127Gln)
| gnomAD v4 |
X | g.25013616G>A | CA412613299 | ARX | c.379C>T (p.Pro127Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013616G>C | CA412613300 | ARX | c.379C>G (p.Pro127Ala)
| |
X | g.25013616G= | CA2420209351 | ARX | c.379C= (p.Pro127=)
| |
X | g.25013616G>T | CA412613301 | ARX | c.379C>A (p.Pro127Thr)
| |
X | g.25013617A>C | CA515947870 | ARX | c.378T>G (p.Pro126=)
| |
X | g.25013617A>G | CA515947869 | ARX | c.378T>C (p.Pro126=)
| |
X | g.25013617A>T | CA515947868 | ARX | c.378T>A (p.Pro126=)
| |
X | g.25013618G>A | CA412613303 | ARX | c.377C>T (p.Pro126Leu)
| gnomAD v4 |
X | g.25013618G>C | CA412613304 | ARX | c.377C>G (p.Pro126Arg)
| |
X | g.25013618G>T | CA412613302 | ARX | c.377C>A (p.Pro126His)
| |
X | g.25013619G>A | CA412613305 | ARX | c.376C>T (p.Pro126Ser)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013619G>C | CA412613306 | ARX | c.376C>G (p.Pro126Ala)
| |
X | g.25013619G= | CA2420209352 | ARX | c.376C= (p.Pro126=)
| |
X | g.25013619G>T | CA412613307 | ARX | c.376C>A (p.Pro126Thr)
| ClinVar |
X | g.25013620G>A | CA515947874 | ARX | c.375C>T (p.Ala125=)
| |
X | g.25013620G>C | CA515947875 | ARX | c.375C>G (p.Ala125=)
| dbSNP gnomAD v4 |
X | g.25013620G= | CA2420209353 | ARX | c.375C= (p.Ala125=)
| |
X | g.25013620G>T | CA515947877 | ARX | c.375C>A (p.Ala125=)
| gnomAD v4 |
X | g.25013621G>A | CA412613308 | ARX | c.374C>T (p.Ala125Val)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013621G>C | CA412613309 | ARX | c.374C>G (p.Ala125Gly)
| |
X | g.25013621G= | CA2420209354 | ARX | c.374C= (p.Ala125=)
| |
X | g.25013621G>T | CA412613310 | ARX | c.374C>A (p.Ala125Asp)
| |
X | g.25013622C>A | CA412613313 | ARX | c.373G>T (p.Ala125Ser)
| |
X | g.25013622C= | CA2420209355 | ARX | c.373G= (p.Ala125=)
| |
X | g.25013622C>G | CA412613311 | ARX | c.373G>C (p.Ala125Pro)
| |
X | g.25013622C>T | CA412613312 | ARX | c.373G>A (p.Ala125Thr)
| ClinVar dbSNP gnomAD v4 |
X | g.25013623del | CA2579576422 | ARX | c.373del (p.Ala125ProfsTer?)
| |
X | g.25013623C>A | CA412613314 | ARX | c.372G>T (p.Glu124Asp)
| |
X | g.25013623C= | CA2420209356 | ARX | c.372G= (p.Glu124=)
| |
X | g.25013623C>G | CA412613315 | ARX | c.372G>C (p.Glu124Asp)
| |
X | g.25013623C>T | CA327733057 | ARX | c.372G>A (p.Glu124=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013624T>A | CA412613316 | ARX | c.371A>T (p.Glu124Val)
| dbSNP |
X | g.25013624T>C | CA412613317 | ARX | c.371A>G (p.Glu124Gly)
| gnomAD v4 |
X | g.25013624T>G | CA412613318 | ARX | c.371A>C (p.Glu124Ala)
| |
X | g.25013624T= | CA2420209357 | ARX | c.371A= (p.Glu124=)
| |
X | g.25013625C>A | CA412613321 | ARX | c.370G>T (p.Glu124Ter)
| ClinVar dbSNP gnomAD v4 |
X | g.25013625C>G | CA412613319 | ARX | c.370G>C (p.Glu124Gln)
| |
X | g.25013625C>T | CA412613320 | ARX | c.370G>A (p.Glu124Lys)
| gnomAD v4 |
X | g.25013627_25013674del | CA2693353732 | ARX | c.323_370del (p.Ala108_Gly123del)
| gnomAD v4 |
X | g.25013626C>A | CA515947891 | ARX | c.369G>T (p.Gly123=)
| |
X | g.25013626C>G | CA515947892 | ARX | c.369G>C (p.Gly123=)
| |
X | g.25013626C>T | CA515947893 | ARX | c.369G>A (p.Gly123=)
| |
X | g.25013626_25013660delinsCCCGCGTGGACCCGCCGTGGCCGTGGCGGCCGCTG | CA2420209358 | ARX | c.335_369delinsCAGCGGCCGCCACGGCCACGGCGGGTCCACGCGGG (p.Ala112=)
| |
X | g.25013627C>A | CA412613322 | ARX | c.368G>T (p.Gly123Val)
| ClinVar dbSNP |
X | g.25013627C= | CA2420209359 | ARX | c.368G= (p.Gly123=)
| |
X | g.25013627C>G | CA412613323 | ARX | c.368G>C (p.Gly123Ala)
| |
X | g.25013627C>T | CA412613324 | ARX | c.368G>A (p.Gly123Glu)
| |
X | g.25013631_25013664del | CA213236 | ARX | c.335_368del (p.Ala112GlyfsTer?)
| ClinVar dbSNP |
X | g.25013628C>A | CA412613325 | ARX | c.367G>T (p.Gly123Trp)
| |
X | g.25013628C= | CA2420209360 | ARX | c.367G= (p.Gly123=)
| |
X | g.25013628C>G | CA412613326 | ARX | c.367G>C (p.Gly123Arg)
| dbSNP gnomAD v4 |
X | g.25013628C>T | CA412613327 | ARX | c.367G>A (p.Gly123Arg)
| ClinVar gnomAD v4 |
X | g.25013630_25013631del | CA2579576423 | ARX | c.366_367del (p.Glu124GlyfsTer?)
| |
X | g.25013629G>A | CA515947901 | ARX | c.366C>T (p.Arg122=)
| |
X | g.25013629G>C | CA515947903 | ARX | c.366C>G (p.Arg122=)
| |
X | g.25013629G>T | CA515947904 | ARX | c.366C>A (p.Arg122=)
| gnomAD v4 |
X | g.25013630C>A | CA412613328 | ARX | c.365G>T (p.Arg122Leu)
| dbSNP |
X | g.25013630C= | CA2420209361 | ARX | c.365G= (p.Arg122=)
| |
X | g.25013630C>G | CA412613329 | ARX | c.365G>C (p.Arg122Pro)
| |
X | g.25013630C>T | CA412613330 | ARX | c.365G>A (p.Arg122His)
| ClinVar dbSNP gnomAD v4 |
X | g.25013631G>A | CA412613331 | ARX | c.364C>T (p.Arg122Cys)
| gnomAD v4 |
X | g.25013631G>C | CA412613332 | ARX | c.364C>G (p.Arg122Gly)
| |
X | g.25013631G>T | CA412613333 | ARX | c.364C>A (p.Arg122Ser)
| gnomAD v4 |
X | g.25013632T>A | CA515947913 | ARX | c.363A>T (p.Pro121=)
| |
X | g.25013632T>C | CA515947911 | ARX | c.363A>G (p.Pro121=)
| ClinVar |
X | g.25013632T>G | CA515947910 | ARX | c.363A>C (p.Pro121=)
| |