| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
| X | g.25013152_25013156del | CA2511077634 | ARX | c.839_843del (p.Ala280GlyfsTer22) | |
| X | g.25013154C>A | CA412612328 | ARX | c.841G>T (p.Ala281Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013154C= | CA2420209128 | ARX | c.841G= (p.Ala281=) | |
| X | g.25013154C>G | CA412612329 | ARX | c.841G>C (p.Ala281Pro) | |
| X | g.25013154C>T | CA412612330 | ARX | c.841G>A (p.Ala281Thr) | gnomAD v4 |
| X | g.25013155A= | CA2420209129 | ARX | c.840T= (p.Ala280=) | |
| X | g.25013155A>C | CA515947448 | ARX | c.840T>G (p.Ala280=) | |
| X | g.25013155A>G | CA327733042 | ARX | c.840T>C (p.Ala280=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013155A>T | CA515947449 | ARX | c.840T>A (p.Ala280=) | |
| X | g.25013156G>A | CA412612331 | ARX | c.839C>T (p.Ala280Val) | |
| X | g.25013156G>C | CA412612332 | ARX | c.839C>G (p.Ala280Gly) | |
| X | g.25013156G>T | CA412612333 | ARX | c.839C>A (p.Ala280Asp) | gnomAD v4 |
| X | g.25013161_25013190del | CA2693353413 | ARX | c.810_839del (p.Thr271_Ala280del) | gnomAD v4 |
| X | g.25013157C>A | CA412612334 | ARX | c.838G>T (p.Ala280Ser) | |
| X | g.25013157C>G | CA412612335 | ARX | c.838G>C (p.Ala280Pro) | ClinVar |
| X | g.25013157C>T | CA412612336 | ARX | c.838G>A (p.Ala280Thr) | gnomAD v4 |
| X | g.25013158G>A | CA515947455 | ARX | c.837C>T (p.Ala279=) | gnomAD v4 |
| X | g.25013158G>C | CA515947456 | ARX | c.837C>G (p.Ala279=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013158G= | CA2420209130 | ARX | c.837C= (p.Ala279=) | |
| X | g.25013158G>T | CA515947457 | ARX | c.837C>A (p.Ala279=) | gnomAD v4 |
| X | g.25013159del | CA2693353419 | ARX | c.837del (p.Ala280LeufsTer?) | gnomAD v4 |
| X | g.25013159G>A | CA412612337 | ARX | c.836C>T (p.Ala279Val) | dbSNP |
| X | g.25013159G>C | CA412612338 | ARX | c.836C>G (p.Ala279Gly) | |
| X | g.25013159G= | CA2420209131 | ARX | c.836C= (p.Ala279=) | |
| X | g.25013159G>T | CA412612339 | ARX | c.836C>A (p.Ala279Asp) | gnomAD v4 |
| X | g.25013160C>A | CA412612342 | ARX | c.835G>T (p.Ala279Ser) | |
| X | g.25013160C= | CA2420209132 | ARX | c.835G= (p.Ala279=) | |
| X | g.25013160C>G | CA412612340 | ARX | c.835G>C (p.Ala279Pro) | |
| X | g.25013160C>T | CA412612341 | ARX | c.835G>A (p.Ala279Thr) | dbSNP gnomAD v4 |
| X | g.25013161del | CA2567750983 | ARX | c.834del (p.Ala279ProfsTer?) | |
| X | g.25013161A>C | CA515947465 | ARX | c.834T>G (p.Ala278=) | gnomAD v4 |
| X | g.25013161A>G | CA515947463 | ARX | c.834T>C (p.Ala278=) | |
| X | g.25013161A>T | CA515947464 | ARX | c.834T>A (p.Ala278=) | |
| X | g.25013162G>A | CA412612343 | ARX | c.833C>T (p.Ala278Val) | gnomAD v4 |
| X | g.25013162G>C | CA10373872 | ARX | c.833C>G (p.Ala278Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013162G= | CA2420209133 | ARX | c.833C= (p.Ala278=) | |
| X | g.25013162G>T | CA412612344 | ARX | c.833C>A (p.Ala278Asp) | gnomAD v4 |
| X | g.25013163C>A | CA412612345 | ARX | c.832G>T (p.Ala278Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013163C= | CA2420209134 | ARX | c.832G= (p.Ala278=) | |
| X | g.25013163C>G | CA412612346 | ARX | c.832G>C (p.Ala278Pro) | |
| X | g.25013163C>T | CA10373873 | ARX | c.832G>A (p.Ala278Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013164T>A | CA515947477 | ARX | c.831A>T (p.Ala277=) | |
| X | g.25013164T>C | CA515947481 | ARX | c.831A>G (p.Ala277=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013164T>G | CA515947482 | ARX | c.831A>C (p.Ala277=) | |
| X | g.25013164T= | CA2420209135 | ARX | c.831A= (p.Ala277=) | |
| X | g.25013165G>A | CA412612347 | ARX | c.830C>T (p.Ala277Val) | |
| X | g.25013165G>C | CA412612348 | ARX | c.830C>G (p.Ala277Gly) | |
| X | g.25013165G>T | CA412612349 | ARX | c.830C>A (p.Ala277Glu) | |
| X | g.25013166C>A | CA412612350 | ARX | c.829G>T (p.Ala277Ser) |