Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
X | g.25013228_25013251dup | CA2420209171 | ARX | c.744_767dup (p.Ala256_Arg257insGluGluLeuLeuGluAspAspAla) | dbSNP |
X | g.25013228_25013252delinsGCGTCGTCCTCCAGCAGCTCCTCCT | CA2420209169 | ARX | c.743_767delinsAGGAGGAGCTGCTGGAGGACGACGC (p.Glu248=) | |
X | g.25013245_25013268dup | CA2693353584 | ARX | c.743_766dup (p.Asp255_Ala256insGluGluGluLeuLeuGluAspAsp) | gnomAD v4 |
X | g.25013245_25013268del | CA641364630 | ARX | c.743_766del (p.Glu248_Asp255del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013230_25013293delinsGTCGTCCTCCAGCAGCTCCTCCTCGTCGTCCTCCAGCAGTTCCTCTTCCTCGTCCTCATCTTCT | CA2420209173 | ARX | c.702_765delinsAGAAGATGAGGACGAGGAAGAGGAACTGCTGGAGGACGACGAGGAGGAGCTGCTGGAGGACGAC (p.Glu234=) | |
X | g.25013263_25013325dup | CA2693353589 | ARX | c.702_764dup (p.Asp254_Asp255insGluGluAspGluAspGluGluGluGluLeuLeuGluAspAspGluGluGluLeuLeuGluAsp) | gnomAD v4 |
X | g.25013263_25013325del | CA658799627 | ARX | c.702_764del (p.Glu234_Asp254del) | ClinVar dbSNP gnomAD v4 |
X | g.25013245C>A | CA412612501 | ARX | c.750G>T (p.Glu250Asp) | gnomAD v4 |
X | g.25013245C= | CA2420209178 | ARX | c.750G= (p.Glu250=) | |
X | g.25013245C>G | CA412612502 | ARX | c.750G>C (p.Glu250Asp) | |
X | g.25013245C>T | CA515947566 | ARX | c.750G>A (p.Glu250=) | dbSNP |
X | g.25013245_25013269delinsCTCCTCCTCGTCGTCCTCCAGCAGT | CA2420209177 | ARX | c.726_750delinsACTGCTGGAGGACGACGAGGAGGAG (p.Glu242=) | |
X | g.25013246T>A | CA412612503 | ARX | c.749A>T (p.Glu250Val) | |
X | g.25013246T>C | CA412612504 | ARX | c.749A>G (p.Glu250Gly) | |
X | g.25013246T>G | CA412612505 | ARX | c.749A>C (p.Glu250Ala) | |
X | g.25013251_25013274del | CA1131757043 | ARX | c.726_749del (p.Leu243_Glu250del) | dbSNP gnomAD v3 gnomAD v4 |
X | g.25013247C>A | CA412612506 | ARX | c.748G>T (p.Glu250Ter) | ClinVar dbSNP gnomAD v4 |
X | g.25013247C= | CA2420209179 | ARX | c.748G= (p.Glu250=) | |
X | g.25013247C>G | CA412612507 | ARX | c.748G>C (p.Glu250Gln) | |
X | g.25013247C>T | CA412612508 | ARX | c.748G>A (p.Glu250Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013248C>A | CA412612509 | ARX | c.747G>T (p.Glu249Asp) | |
X | g.25013248C= | CA2420209180 | ARX | c.747G= (p.Glu249=) | |
X | g.25013248C>G | CA412612510 | ARX | c.747G>C (p.Glu249Asp) | |
X | g.25013248C>T | CA209987 | ARX | c.747G>A (p.Glu249=) | ClinVar dbSNP |
X | g.25013249T>A | CA412612513 | ARX | c.746A>T (p.Glu249Val) | |
X | g.25013249T>C | CA412612512 | ARX | c.746A>G (p.Glu249Gly) | |
X | g.25013249T>G | CA412612511 | ARX | c.746A>C (p.Glu249Ala) | |
X | g.25013250C>A | CA412612514 | ARX | c.745G>T (p.Glu249Ter) | |
X | g.25013250C= | CA2420209181 | ARX | c.745G= (p.Glu249=) | |
X | g.25013250C>G | CA412612515 | ARX | c.745G>C (p.Glu249Gln) | |
X | g.25013250C>T | CA327733048 | ARX | c.745G>A (p.Glu249Lys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.25013251C>A | CA412612516 | ARX | c.744G>T (p.Glu248Asp) | gnomAD v4 |
X | g.25013251C= | CA2420209182 | ARX | c.744G= (p.Glu248=) | |
X | g.25013251C>G | CA412612517 | ARX | c.744G>C (p.Glu248Asp) | |
X | g.25013251C>T | CA515947578 | ARX | c.744G>A (p.Glu248=) | dbSNP |
X | g.25013252T>A | CA412612518 | ARX | c.743A>T (p.Glu248Val) | |
X | g.25013252T>C | CA412612519 | ARX | c.743A>G (p.Glu248Gly) | |
X | g.25013252T>G | CA412612520 | ARX | c.743A>C (p.Glu248Ala) | |
X | g.25013253C>A | CA412612521 | ARX | c.742G>T (p.Glu248Ter) | |
X | g.25013253C= | CA2420209183 | ARX | c.742G= (p.Glu248=) | |
X | g.25013253C>G | CA412612522 | ARX | c.742G>C (p.Glu248Gln) | ClinVar dbSNP |
X | g.25013253C>T | CA412612523 | ARX | c.742G>A (p.Glu248Lys) | |
X | g.25013254G>A | CA515947585 | ARX | c.741C>T (p.Asp247=) | gnomAD v4 |
X | g.25013254G>C | CA412612524 | ARX | c.741C>G (p.Asp247Glu) | dbSNP gnomAD v4 |
X | g.25013254G= | CA2420209184 | ARX | c.741C= (p.Asp247=) | |
X | g.25013254G>T | CA412612525 | ARX | c.741C>A (p.Asp247Glu) | gnomAD v4 |
X | g.25013255T>A | CA412612527 | ARX | c.740A>T (p.Asp247Val) | |
X | g.25013255T>C | CA10373883 | ARX | c.740A>G (p.Asp247Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25013255T>G | CA412612526 | ARX | c.740A>C (p.Asp247Ala) |