| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
| X | g.25013161_25013190del | CA2693353413 | ARX | c.810_839del (p.Thr271_Ala280del) | 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) | |
| X | g.25013166C= | CA2420209136 | ARX | c.829G= (p.Ala277=) | |
| X | g.25013166C>G | CA412612351 | ARX | c.829G>C (p.Ala277Pro) | |
| X | g.25013166C>T | CA412612352 | ARX | c.829G>A (p.Ala277Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013167T>A | CA515947495 | ARX | c.828A>T (p.Ala276=) | |
| X | g.25013167T>C | CA515947496 | ARX | c.828A>G (p.Ala276=) | |
| X | g.25013167T>G | CA515947497 | ARX | c.828A>C (p.Ala276=) | |
| X | g.25013168del | CA2552618203 | ARX | c.827del (p.Ala276GlufsTer?) | |
| X | g.25013168G>A | CA412612354 | ARX | c.827C>T (p.Ala276Val) | |
| X | g.25013168G>C | CA412612355 | ARX | c.827C>G (p.Ala276Gly) | |
| X | g.25013168G>T | CA412612353 | ARX | c.827C>A (p.Ala276Glu) | gnomAD v4 |
| X | g.25013176_25013193dup | CA2693353440 | ARX | c.810_827dup (p.Ala276_Ala277insThrGlyAlaValAlaAla) | gnomAD v4 |
| X | g.25013176_25013193del | CA2592314635 | ARX | c.810_827del (p.Thr271_Ala276del) | gnomAD v3 gnomAD v4 |
| X | g.25013169C>A | CA412612356 | ARX | c.826G>T (p.Ala276Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013169C= | CA2420209137 | ARX | c.826G= (p.Ala276=) | |
| X | g.25013169C>G | CA412612357 | ARX | c.826G>C (p.Ala276Pro) | dbSNP gnomAD v4 |
| X | g.25013169C>T | CA412612358 | ARX | c.826G>A (p.Ala276Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013170G>A | CA16616649 | ARX | c.825C>T (p.Ala275=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013170G>C | CA515947502 | ARX | c.825C>G (p.Ala275=) | |
| X | g.25013170G= | CA2420209138 | ARX | c.825C= (p.Ala275=) | |
| X | g.25013170G>T | CA515947505 | ARX | c.825C>A (p.Ala275=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013170_25013171del | CA2530386685 | ARX | c.824_825del (p.Ala275GlyfsTer28) | |
| X | g.25013171G>A | CA412612359 | ARX | c.824C>T (p.Ala275Val) | dbSNP gnomAD v4 |
| X | g.25013171G>C | CA412612360 | ARX | c.824C>G (p.Ala275Gly) | |
| X | g.25013171G>T | CA412612361 | ARX | c.824C>A (p.Ala275Asp) | gnomAD v4 |