| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25004891_25007522dup | CA10575788 | ARX | c.1120-82_1469dup | ClinVar |
| X | g.25007205_25007233del | CA2693353159 | ARX | c.1327_1355del (p.Ser443ProfsTer?) | gnomAD v4 |
| X | g.25007226_25007278dup | CA1139667342 | ARX | c.1287_1339dup (p.Pro447LeufsTer34) | ClinVar dbSNP |
| X | g.25007222G>A | CA412611221 | ARX | c.1337C>T (p.Pro446Leu) | gnomAD v4 |
| X | g.25007222G>C | CA412611222 | ARX | c.1337C>G (p.Pro446Arg) | gnomAD v4 |
| X | g.25007222G>T | CA412611223 | ARX | c.1337C>A (p.Pro446Gln) | |
| X | g.25007223dup | CA213329 | ARX | c.1337dup (p.Pro447AlafsTer?) | ClinVar dbSNP |
| X | g.25007223G>A | CA412611224 | ARX | c.1336C>T (p.Pro446Ser) | |
| X | g.25007223G>C | CA412611225 | ARX | c.1336C>G (p.Pro446Ala) | |
| X | g.25007223G>T | CA412611226 | ARX | c.1336C>A (p.Pro446Thr) | gnomAD v4 |
| X | g.25007224A>C | CA515947020 | ARX | c.1335T>G (p.Pro445=) | |
| X | g.25007224A>G | CA515947021 | ARX | c.1335T>C (p.Pro445=) | gnomAD v4 |
| X | g.25007224A>T | CA515947022 | ARX | c.1335T>A (p.Pro445=) | gnomAD v4 |
| X | g.25007225G>A | CA412611227 | ARX | c.1334C>T (p.Pro445Leu) | |
| X | g.25007225G>C | CA412611228 | ARX | c.1334C>G (p.Pro445Arg) | |
| X | g.25007225G>T | CA412611229 | ARX | c.1334C>A (p.Pro445His) | |
| X | g.25007226G>A | CA412611230 | ARX | c.1333C>T (p.Pro445Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.25007226G>C | CA412611232 | ARX | c.1333C>G (p.Pro445Ala) | |
| X | g.25007226G>T | CA412611231 | ARX | c.1333C>A (p.Pro445Thr) | |
| X | g.25007227T>A | CA515947024 | ARX | c.1332A>T (p.Leu444=) | |
| X | g.25007227T>C | CA515947023 | ARX | c.1332A>G (p.Leu444=) | gnomAD v4 |
| X | g.25007227T>G | CA327732614 | ARX | c.1332A>C (p.Leu444=) | dbSNP |
| X | g.25007227T= | CA2420207042 | ARX | c.1332A= (p.Leu444=) | |
| X | g.25007228A>C | CA412611233 | ARX | c.1331T>G (p.Leu444Arg) | |
| X | g.25007228A>G | CA412611234 | ARX | c.1331T>C (p.Leu444Pro) | gnomAD v4 |
| X | g.25007228A>T | CA412611235 | ARX | c.1331T>A (p.Leu444Gln) | |
| X | g.25007229G>A | CA515947025 | ARX | c.1330C>T (p.Leu444=) | ClinVar |
| X | g.25007229G>C | CA412611236 | ARX | c.1330C>G (p.Leu444Val) | |
| X | g.25007229G>T | CA412611237 | ARX | c.1330C>A (p.Leu444Ile) | gnomAD v4 |
| X | g.25007230G>A | CA515947026 | ARX | c.1329C>T (p.Ser443=) | gnomAD v4 |
| X | g.25007230G>C | CA412611238 | ARX | c.1329C>G (p.Ser443Arg) | |
| X | g.25007230G>T | CA412611239 | ARX | c.1329C>A (p.Ser443Arg) | dbSNP gnomAD v4 |
| X | g.25007231C>A | CA412611240 | ARX | c.1328G>T (p.Ser443Ile) | gnomAD v4 |
| X | g.25007231C>G | CA412611241 | ARX | c.1328G>C (p.Ser443Thr) | |
| X | g.25007231C>T | CA412611242 | ARX | c.1328G>A (p.Ser443Asn) | |
| X | g.25007232T>A | CA412611245 | ARX | c.1327A>T (p.Ser443Cys) | gnomAD v4 |
| X | g.25007232T>C | CA412611244 | ARX | c.1327A>G (p.Ser443Gly) | ClinVar dbSNP gnomAD v4 |
| X | g.25007232T>G | CA412611243 | ARX | c.1327A>C (p.Ser443Arg) | |
| X | g.25007232T= | CA2420207043 | ARX | c.1327A= (p.Ser443=) | |
| X | g.25007233C>A | CA515947027 | ARX | c.1326G>T (p.Pro442=) | gnomAD v4 |
| X | g.25007233C= | CA2420207044 | ARX | c.1326G= (p.Pro442=) | |
| X | g.25007233C>G | CA515947028 | ARX | c.1326G>C (p.Pro442=) | ClinVar dbSNP |
| X | g.25007233C>T | CA10373815 | ARX | c.1326G>A (p.Pro442=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25007234G>A | CA412611246 | ARX | c.1325C>T (p.Pro442Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.25007234G>C | CA412611247 | ARX | c.1325C>G (p.Pro442Arg) | gnomAD v4 |
| X | g.25007234G= | CA2420207045 | ARX | c.1325C= (p.Pro442=) | |
| X | g.25007234G>T | CA412611248 | ARX | c.1325C>A (p.Pro442Gln) | gnomAD v4 |
| X | g.25007236del | CA2579637312 | ARX | c.1325del (p.Pro442ArgfsTer21) | |
| X | g.25007235G>A | CA412611249 | ARX | c.1324C>T (p.Pro442Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007235G>C | CA412611250 | ARX | c.1324C>G (p.Pro442Ala) |