| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
| X | g.25013606_25013640del | CA2580100528 | ARX | c.357_391del (p.Gly120AsnfsTer?) | ClinVar |
| X | g.25013627_25013674del | CA2693353732 | ARX | c.323_370del (p.Ala108_Gly123del) | gnomAD v4 |
| X | g.25013626_25013660delinsCCCGCGTGGACCCGCCGTGGCCGTGGCGGCCGCTG | CA2420209358 | ARX | c.335_369delinsCAGCGGCCGCCACGGCCACGGCGGGTCCACGCGGG (p.Ala112=) | |
| X | g.25013631_25013664del | CA213236 | ARX | c.335_368del (p.Ala112GlyfsTer?) | ClinVar dbSNP |
| X | g.25013630_25013631del | CA2579576423 | ARX | c.366_367del (p.Glu124GlyfsTer?) | |
| X | g.25013631G>A | CA412613331 | ARX | c.364C>T (p.Arg122Cys) | gnomAD v4 |
| X | g.25013631G>C | CA412613332 | ARX | c.364C>G (p.Arg122Gly) | |
| X | g.25013631G>T | CA412613333 | ARX | c.364C>A (p.Arg122Ser) | gnomAD v4 |
| X | g.25013632T>A | CA515947913 | ARX | c.363A>T (p.Pro121=) | |
| X | g.25013632T>C | CA515947911 | ARX | c.363A>G (p.Pro121=) | ClinVar |
| X | g.25013632T>G | CA515947910 | ARX | c.363A>C (p.Pro121=) | |
| X | g.25013633G>A | CA412613334 | ARX | c.362C>T (p.Pro121Leu) | |
| X | g.25013633G>C | CA412613336 | ARX | c.362C>G (p.Pro121Arg) | gnomAD v4 |
| X | g.25013633G>T | CA412613335 | ARX | c.362C>A (p.Pro121Gln) | gnomAD v4 |
| X | g.25013634G>A | CA412613337 | ARX | c.361C>T (p.Pro121Ser) | |
| X | g.25013634G>C | CA412613338 | ARX | c.361C>G (p.Pro121Ala) | |
| X | g.25013634G= | CA2420209362 | ARX | c.361C= (p.Pro121=) | |
| X | g.25013634G>T | CA412613339 | ARX | c.361C>A (p.Pro121Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013635A>C | CA515947920 | ARX | c.360T>G (p.Gly120=) | |
| X | g.25013635A>G | CA515947921 | ARX | c.360T>C (p.Gly120=) | gnomAD v4 |
| X | g.25013635A>T | CA515947922 | ARX | c.360T>A (p.Gly120=) | |
| X | g.25013636C>A | CA412613340 | ARX | c.359G>T (p.Gly120Val) | gnomAD v4 |
| X | g.25013636C= | CA2420209363 | ARX | c.359G= (p.Gly120=) | |
| X | g.25013636C>G | CA412613341 | ARX | c.359G>C (p.Gly120Ala) | |
| X | g.25013636C>T | CA412613342 | ARX | c.359G>A (p.Gly120Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013637C>A | CA412613343 | ARX | c.358G>T (p.Gly120Cys) | |
| X | g.25013637C>G | CA412613344 | ARX | c.358G>C (p.Gly120Arg) | |
| X | g.25013637C>T | CA412613345 | ARX | c.358G>A (p.Gly120Ser) | |
| X | g.25013638C>A | CA515947925 | ARX | c.357G>T (p.Ala119=) | |
| X | g.25013638C= | CA2420209364 | ARX | c.357G= (p.Ala119=) | |
| X | g.25013638C>G | CA515947926 | ARX | c.357G>C (p.Ala119=) | |
| X | g.25013638C>T | CA515947928 | ARX | c.357G>A (p.Ala119=) | dbSNP gnomAD v4 |
| X | g.25013639G>A | CA412613346 | ARX | c.356C>T (p.Ala119Val) | gnomAD v4 |
| X | g.25013639G>C | CA412613347 | ARX | c.356C>G (p.Ala119Gly) | |
| X | g.25013639G>T | CA412613348 | ARX | c.356C>A (p.Ala119Glu) | gnomAD v4 |
| X | g.25013647_25013652dup | CA2420209365 | ARX | c.351_356dup (p.Ala119_Gly120insThrAla) | ClinVar dbSNP |
| X | g.25013643_25013657dup | CA874147875 | ARX | c.342_356dup (p.Ala119_Gly120insAlaThrAlaThrAla) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013640C>A | CA412613351 | ARX | c.355G>T (p.Ala119Ser) | |
| X | g.25013640C>G | CA412613350 | ARX | c.355G>C (p.Ala119Pro) | |
| X | g.25013640C>T | CA412613349 | ARX | c.355G>A (p.Ala119Thr) | gnomAD v4 |
| X | g.25013641C>A | CA515947933 | ARX | c.354G>T (p.Thr118=) | gnomAD v4 |
| X | g.25013641C= | CA2420209366 | ARX | c.354G= (p.Thr118=) | |
| X | g.25013641C>G | CA515947934 | ARX | c.354G>C (p.Thr118=) | |
| X | g.25013641C>T | CA327733058 | ARX | c.354G>A (p.Thr118=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013642G>A | CA412613352 | ARX | c.353C>T (p.Thr118Met) | gnomAD v4 |
| X | g.25013642G>C | CA412613353 | ARX | c.353C>G (p.Thr118Arg) | |
| X | g.25013642G>T | CA412613354 | ARX | c.353C>A (p.Thr118Lys) | gnomAD v4 |
| X | g.25013643T>A | CA412613355 | ARX | c.352A>T (p.Thr118Ser) | |
| X | g.25013643T>C | CA412613356 | ARX | c.352A>G (p.Thr118Ala) |