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.25013239C>A | CA515947540 | ARX | c.756G>T (p.Leu252=) | |
X | g.25013239C>G | CA515947542 | ARX | c.756G>C (p.Leu252=) | ClinVar gnomAD v3 gnomAD v4 |
X | g.25013239C>T | CA515947543 | ARX | c.756G>A (p.Leu252=) | |
X | g.25013240A= | CA2420209176 | ARX | c.755T= (p.Leu252=) | |
X | g.25013240A>C | CA412612492 | ARX | c.755T>G (p.Leu252Arg) | |
X | g.25013240A>G | CA10373882 | ARX | c.755T>C (p.Leu252Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013240A>T | CA412612493 | ARX | c.755T>A (p.Leu252Gln) | |
X | g.25013241G>A | CA515947551 | ARX | c.754C>T (p.Leu252=) | |
X | g.25013241G>C | CA412612494 | ARX | c.754C>G (p.Leu252Val) | |
X | g.25013241G>T | CA412612495 | ARX | c.754C>A (p.Leu252Met) | gnomAD v4 |
X | g.25013242C>A | CA515947552 | ARX | c.753G>T (p.Leu251=) | |
X | g.25013242C>G | CA515947553 | ARX | c.753G>C (p.Leu251=) | |
X | g.25013242C>T | CA515947554 | ARX | c.753G>A (p.Leu251=) | |
X | g.25013243A>C | CA412612497 | ARX | c.752T>G (p.Leu251Arg) | |
X | g.25013243A>G | CA412612498 | ARX | c.752T>C (p.Leu251Pro) | |
X | g.25013243A>T | CA412612496 | ARX | c.752T>A (p.Leu251Gln) | |
X | g.25013244G>A | CA515947562 | ARX | c.751C>T (p.Leu251=) | gnomAD v4 |
X | g.25013244G>C | CA412612499 | ARX | c.751C>G (p.Leu251Val) | |
X | g.25013244G>T | CA412612500 | ARX | c.751C>A (p.Leu251Met) | 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) |