| 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.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 |
| X | g.25013172C>A | CA412612364 | ARX | c.823G>T (p.Ala275Ser) | |
| X | g.25013172C>G | CA412612362 | ARX | c.823G>C (p.Ala275Pro) | |
| X | g.25013172C>T | CA412612363 | ARX | c.823G>A (p.Ala275Thr) | gnomAD v4 |
| X | g.25013173C>A | CA515947510 | ARX | c.822G>T (p.Val274=) | gnomAD v4 |
| X | g.25013173C= | CA2420209139 | ARX | c.822G= (p.Val274=) | |
| X | g.25013173C>G | CA515947511 | ARX | c.822G>C (p.Val274=) | |
| X | g.25013173C>T | CA515947512 | ARX | c.822G>A (p.Val274=) | ClinVar dbSNP |
| X | g.25013174A= | CA2420209140 | ARX | c.821T= (p.Val274=) | |
| X | g.25013174A>C | CA412612365 | ARX | c.821T>G (p.Val274Gly) | |
| X | g.25013174A>G | CA10373874 | ARX | c.821T>C (p.Val274Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013174A>T | CA412612366 | ARX | c.821T>A (p.Val274Glu) | |
| X | g.25013174dup | CA2580618167 | ARX | c.821dup (p.Ala275GlyfsTer29) | ClinVar |
| X | g.25013174_25013176del | CA2563881402 | ARX | c.819_821del (p.Val274del) | |
| X | g.25013175C>A | CA412612367 | ARX | c.820G>T (p.Val274Leu) | gnomAD v4 |
| X | g.25013175C>G | CA412612368 | ARX | c.820G>C (p.Val274Leu) | |
| X | g.25013175C>T | CA412612369 | ARX | c.820G>A (p.Val274Met) | |
| X | g.25013176G>A | CA515947517 | ARX | c.819C>T (p.Ala273=) | dbSNP |
| X | g.25013176G>C | CA515947521 | ARX | c.819C>G (p.Ala273=) | |
| X | g.25013176G= | CA2420209141 | ARX | c.819C= (p.Ala273=) | |
| X | g.25013176G>T | CA515947522 | ARX | c.819C>A (p.Ala273=) | gnomAD v4 |
| X | g.25013177G>A | CA412612370 | ARX | c.818C>T (p.Ala273Val) | gnomAD v4 |
| X | g.25013177G>C | CA327733043 | ARX | c.818C>G (p.Ala273Gly) | dbSNP gnomAD v4 |
| X | g.25013177G= | CA2420209142 | ARX | c.818C= (p.Ala273=) | |
| X | g.25013177G>T | CA412612371 | ARX | c.818C>A (p.Ala273Asp) | gnomAD v4 |
| X | g.25013178C>A | CA412612372 | ARX | c.817G>T (p.Ala273Ser) | gnomAD v4 |
| X | g.25013178C= | CA2420209143 | ARX | c.817G= (p.Ala273=) | |
| X | g.25013178C>G | CA412612373 | ARX | c.817G>C (p.Ala273Pro) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013178C>T | CA412612374 | ARX | c.817G>A (p.Ala273Thr) | gnomAD v4 |
| X | g.25013179G>A | CA515947528 | ARX | c.816C>T (p.Gly272=) | ClinVar gnomAD v4 COSMIC |
| X | g.25013179G>C | CA515947529 | ARX | c.816C>G (p.Gly272=) |