Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
X | g.25013698A>C | CA515948123 | ARX | c.297T>G (p.Gly99=) | |
X | g.25013698A>G | CA515948122 | ARX | c.297T>C (p.Gly99=) | gnomAD v4 |
X | g.25013698A>T | CA515948121 | ARX | c.297T>A (p.Gly99=) | |
X | g.25013699C>A | CA412613466 | ARX | c.296G>T (p.Gly99Val) | gnomAD v4 |
X | g.25013699C>G | CA412613468 | ARX | c.296G>C (p.Gly99Ala) | |
X | g.25013699C>T | CA412613467 | ARX | c.296G>A (p.Gly99Asp) | |
X | g.25013701del | CA2693353736 | ARX | c.296del (p.Gly99ValfsTer?) | gnomAD v4 |
X | g.25013700C>A | CA412613469 | ARX | c.295G>T (p.Gly99Cys) | ClinVar gnomAD v4 |
X | g.25013700C= | CA2420209409 | ARX | c.295G= (p.Gly99=) | |
X | g.25013700C>G | CA412613470 | ARX | c.295G>C (p.Gly99Arg) | |
X | g.25013700C>T | CA412613471 | ARX | c.295G>A (p.Gly99Ser) | dbSNP |
X | g.25013701C>A | CA412613472 | ARX | c.294G>T (p.Gln98His) | |
X | g.25013701C>G | CA412613473 | ARX | c.294G>C (p.Gln98His) | |
X | g.25013701C>T | CA515948126 | ARX | c.294G>A (p.Gln98=) | ClinVar gnomAD v4 |
X | g.25013702T>A | CA412613474 | ARX | c.293A>T (p.Gln98Leu) | gnomAD v4 |
X | g.25013702T>C | CA412613475 | ARX | c.293A>G (p.Gln98Arg) | gnomAD v4 |
X | g.25013702T>G | CA412613476 | ARX | c.293A>C (p.Gln98Pro) | |
X | g.25013703G>A | CA412613477 | ARX | c.292C>T (p.Gln98Ter) | gnomAD v4 |
X | g.25013703G>C | CA412613478 | ARX | c.292C>G (p.Gln98Glu) | |
X | g.25013703G>T | CA412613479 | ARX | c.292C>A (p.Gln98Lys) | gnomAD v4 |
X | g.25013704A>C | CA515948129 | ARX | c.291T>G (p.Leu97=) | |
X | g.25013704A>G | CA515948133 | ARX | c.291T>C (p.Leu97=) | ClinVar dbSNP gnomAD v4 |
X | g.25013704A>T | CA515948131 | ARX | c.291T>A (p.Leu97=) | |
X | g.25013705del | CA2693353737 | ARX | c.291del (p.Gln98ArgfsTer?) | gnomAD v4 |
X | g.25013705A= | CA2420209410 | ARX | c.290T= (p.Leu97=) | |
X | g.25013705A>C | CA412613481 | ARX | c.290T>G (p.Leu97Arg) | |
X | g.25013705A>G | CA412613482 | ARX | c.290T>C (p.Leu97Pro) | dbSNP gnomAD v4 |
X | g.25013705A>T | CA412613480 | ARX | c.290T>A (p.Leu97His) | gnomAD v4 |
X | g.25013706G>A | CA412613483 | ARX | c.289C>T (p.Leu97Phe) | |
X | g.25013706G>C | CA412613484 | ARX | c.289C>G (p.Leu97Val) | |
X | g.25013706G>T | CA412613485 | ARX | c.289C>A (p.Leu97Ile) | |
X | g.25013707G>A | CA515948137 | ARX | c.288C>T (p.Leu96=) | gnomAD v4 |
X | g.25013707G>C | CA515948138 | ARX | c.288C>G (p.Leu96=) | |
X | g.25013707G>T | CA515948139 | ARX | c.288C>A (p.Leu96=) | |
X | g.25013708A>C | CA412613486 | ARX | c.287T>G (p.Leu96Arg) | |
X | g.25013708A>G | CA412613487 | ARX | c.287T>C (p.Leu96Pro) | gnomAD v4 |
X | g.25013708A>T | CA412613488 | ARX | c.287T>A (p.Leu96His) | gnomAD v4 |
X | g.25013709G>A | CA412613491 | ARX | c.286C>T (p.Leu96Phe) | |
X | g.25013709G>C | CA412613489 | ARX | c.286C>G (p.Leu96Val) | |
X | g.25013709G>T | CA412613490 | ARX | c.286C>A (p.Leu96Ile) | gnomAD v4 |
X | g.25013710G>A | CA515948143 | ARX | c.285C>T (p.Arg95=) | gnomAD v4 |
X | g.25013710G>C | CA515948144 | ARX | c.285C>G (p.Arg95=) | |
X | g.25013710G>T | CA515948146 | ARX | c.285C>A (p.Arg95=) | |
X | g.25013711C>A | CA412613492 | ARX | c.284G>T (p.Arg95Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.25013711C= | CA2420209411 | ARX | c.284G= (p.Arg95=) | |
X | g.25013711C>G | CA412613493 | ARX | c.284G>C (p.Arg95Pro) | |
X | g.25013711C>T | CA412613494 | ARX | c.284G>A (p.Arg95His) | gnomAD v4 |
X | g.25013712G>A | CA412613495 | ARX | c.283C>T (p.Arg95Cys) | gnomAD v4 |
X | g.25013712G>C | CA412613496 | ARX | c.283C>G (p.Arg95Gly) | gnomAD v4 |