| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25004891_25007522dup | CA10575788 | ARX | c.1120-82_1469dup | ClinVar |
| X | g.25007303_25007307del | CA1139667343 | ARX | c.1256_1260del (p.Phe419SerfsTer?) | ClinVar dbSNP |
| X | g.25007307G>A | CA412611404 | ARX | c.1252C>T (p.Pro418Ser) | |
| X | g.25007307G>C | CA412611405 | ARX | c.1252C>G (p.Pro418Ala) | |
| X | g.25007307G>T | CA412611406 | ARX | c.1252C>A (p.Pro418Thr) | |
| X | g.25007308G>A | CA515947076 | ARX | c.1251C>T (p.Ser417=) | gnomAD v4 |
| X | g.25007308G>C | CA412611407 | ARX | c.1251C>G (p.Ser417Arg) | |
| X | g.25007308G>T | CA412611408 | ARX | c.1251C>A (p.Ser417Arg) | |
| X | g.25007309C>A | CA412611409 | ARX | c.1250G>T (p.Ser417Ile) | gnomAD v4 |
| X | g.25007309C>G | CA412611410 | ARX | c.1250G>C (p.Ser417Thr) | |
| X | g.25007309C>T | CA412611411 | ARX | c.1250G>A (p.Ser417Asn) | gnomAD v4 |
| X | g.25007310T>A | CA412611412 | ARX | c.1249A>T (p.Ser417Cys) | |
| X | g.25007310T>C | CA412611413 | ARX | c.1249A>G (p.Ser417Gly) | gnomAD v4 |
| X | g.25007310T>G | CA412611414 | ARX | c.1249A>C (p.Ser417Arg) | |
| X | g.25007311G>A | CA515947242 | ARX | c.1248C>T (p.Ala416=) | ClinVar gnomAD v4 |
| X | g.25007311G>C | CA515947243 | ARX | c.1248C>G (p.Ala416=) | |
| X | g.25007311G>T | CA515947244 | ARX | c.1248C>A (p.Ala416=) | |
| X | g.25007312G>A | CA412611415 | ARX | c.1247C>T (p.Ala416Val) | gnomAD v4 |
| X | g.25007312G>C | CA10373822 | ARX | c.1247C>G (p.Ala416Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007312G= | CA2420207081 | ARX | c.1247C= (p.Ala416=) | |
| X | g.25007312G>T | CA412611416 | ARX | c.1247C>A (p.Ala416Asp) | gnomAD v4 |
| X | g.25007313C>A | CA412611418 | ARX | c.1246G>T (p.Ala416Ser) | |
| X | g.25007313C>G | CA412611419 | ARX | c.1246G>C (p.Ala416Pro) | gnomAD v4 |
| X | g.25007313C>T | CA412611417 | ARX | c.1246G>A (p.Ala416Thr) | gnomAD v4 |
| X | g.25007314G>A | CA515947250 | ARX | c.1245C>T (p.Asp415=) | ClinVar dbSNP gnomAD v4 |
| X | g.25007314G>C | CA412611420 | ARX | c.1245C>G (p.Asp415Glu) | |
| X | g.25007314G>T | CA412611421 | ARX | c.1245C>A (p.Asp415Glu) | dbSNP gnomAD v4 |
| X | g.25007315T>A | CA412611422 | ARX | c.1244A>T (p.Asp415Val) | |
| X | g.25007315T>C | CA412611423 | ARX | c.1244A>G (p.Asp415Gly) | COSMIC |
| X | g.25007315T>G | CA412611424 | ARX | c.1244A>C (p.Asp415Ala) | |
| X | g.25007316C>A | CA412611425 | ARX | c.1243G>T (p.Asp415Tyr) | |
| X | g.25007316C>G | CA412611426 | ARX | c.1243G>C (p.Asp415His) | |
| X | g.25007316C>T | CA412611427 | ARX | c.1243G>A (p.Asp415Asn) | |
| X | g.25007317C>A | CA515947258 | ARX | c.1242G>T (p.Leu414=) | gnomAD v4 |
| X | g.25007317C>G | CA515947260 | ARX | c.1242G>C (p.Leu414=) | |
| X | g.25007317C>T | CA515947259 | ARX | c.1242G>A (p.Leu414=) | gnomAD v4 |
| X | g.25007318A>C | CA412611428 | ARX | c.1241T>G (p.Leu414Arg) | |
| X | g.25007318A>G | CA412611429 | ARX | c.1241T>C (p.Leu414Pro) | gnomAD v4 |
| X | g.25007318A>T | CA412611430 | ARX | c.1241T>A (p.Leu414Gln) | |
| X | g.25007319G>A | CA515947262 | ARX | c.1240C>T (p.Leu414=) | |
| X | g.25007319G>C | CA412611431 | ARX | c.1240C>G (p.Leu414Val) | ClinVar |
| X | g.25007319G>T | CA412611432 | ARX | c.1240C>A (p.Leu414Met) | gnomAD v4 |
| X | g.25007320G>A | CA515947265 | ARX | c.1239C>T (p.Tyr413=) | ClinVar gnomAD v4 |
| X | g.25007320G>C | CA412611433 | ARX | c.1239C>G (p.Tyr413Ter) | |
| X | g.25007320G>T | CA412611434 | ARX | c.1239C>A (p.Tyr413Ter) | gnomAD v4 |
| X | g.25007321T>A | CA412611435 | ARX | c.1238A>T (p.Tyr413Phe) | |
| X | g.25007321T>C | CA412611436 | ARX | c.1238A>G (p.Tyr413Cys) | dbSNP |
| X | g.25007321T>G | CA412611437 | ARX | c.1238A>C (p.Tyr413Ser) | |
| X | g.25007321T= | CA2420207082 | ARX | c.1238A= (p.Tyr413=) | |
| X | g.25007322A>C | CA412611438 | ARX | c.1237T>G (p.Tyr413Asp) |