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.25013233G>A | CA515947520 | ARX | c.762C>T (p.Asp254=) | ClinVar gnomAD v4 |
X | g.25013233G>C | CA412612476 | ARX | c.762C>G (p.Asp254Glu) | |
X | g.25013233G>T | CA412612477 | ARX | c.762C>A (p.Asp254Glu) | gnomAD v4 |
X | g.25013234T>A | CA412612478 | ARX | c.761A>T (p.Asp254Val) | |
X | g.25013234T>C | CA412612479 | ARX | c.761A>G (p.Asp254Gly) | dbSNP |
X | g.25013234T>G | CA412612480 | ARX | c.761A>C (p.Asp254Ala) | |
X | g.25013234T= | CA2420209174 | ARX | c.761A= (p.Asp254=) | |
X | g.25013235C>A | CA412612481 | ARX | c.760G>T (p.Asp254Tyr) | |
X | g.25013235C>G | CA412612482 | ARX | c.760G>C (p.Asp254His) | |
X | g.25013235C>T | CA412612483 | ARX | c.760G>A (p.Asp254Asn) | |
X | g.25013236C>A | CA412612484 | ARX | c.759G>T (p.Glu253Asp) | gnomAD v4 |
X | g.25013236C>G | CA412612485 | ARX | c.759G>C (p.Glu253Asp) | |
X | g.25013236C>T | CA515947530 | ARX | c.759G>A (p.Glu253=) | |
X | g.25013237T>A | CA412612486 | ARX | c.758A>T (p.Glu253Val) | |
X | g.25013237T>C | CA412612487 | ARX | c.758A>G (p.Glu253Gly) | gnomAD v4 |
X | g.25013237T>G | CA412612488 | ARX | c.758A>C (p.Glu253Ala) | |
X | g.25013238C>A | CA412612489 | ARX | c.757G>T (p.Glu253Ter) | |
X | g.25013238C= | CA2420209175 | ARX | c.757G= (p.Glu253=) | |
X | g.25013238C>G | CA412612490 | ARX | c.757G>C (p.Glu253Gln) | dbSNP |
X | g.25013238C>T | CA412612491 | ARX | c.757G>A (p.Glu253Lys) | 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) |