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.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.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=) | |
X | g.25013179G>T | CA515947531 | ARX | c.816C>A (p.Gly272=) | gnomAD v4 |
X | g.25013180C>A | CA10373875 | ARX | c.815G>T (p.Gly272Val) | dbSNP ExAC |
X | g.25013180C= | CA2420209144 | ARX | c.815G= (p.Gly272=) | |
X | g.25013180C>G | CA412612375 | ARX | c.815G>C (p.Gly272Ala) | |
X | g.25013180C>T | CA412612376 | ARX | c.815G>A (p.Gly272Asp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.25013181C>A | CA412612377 | ARX | c.814G>T (p.Gly272Cys) | gnomAD v4 |
X | g.25013181C>G | CA412612378 | ARX | c.814G>C (p.Gly272Arg) | |
X | g.25013181C>T | CA412612379 | ARX | c.814G>A (p.Gly272Ser) | gnomAD v4 |
X | g.25013182A= | CA2420209145 | ARX | c.813T= (p.Thr271=) | |
X | g.25013182A>C | CA515947549 | ARX | c.813T>G (p.Thr271=) | |
X | g.25013182A>G | CA515947548 | ARX | c.813T>C (p.Thr271=) | ClinVar dbSNP gnomAD v4 |
X | g.25013182A>T | CA515947546 | ARX | c.813T>A (p.Thr271=) | |
X | g.25013182_25013189del | CA2557346376 | ARX | c.806_813del (p.Ala269GlyfsTer?) | |
X | g.25013183G>A | CA412612380 | ARX | c.812C>T (p.Thr271Ile) | |
X | g.25013183G>C | CA412612381 | ARX | c.812C>G (p.Thr271Ser) | |
X | g.25013183G>T | CA412612382 | ARX | c.812C>A (p.Thr271Asn) | gnomAD v4 |
X | g.25013184T>A | CA412612383 | ARX | c.811A>T (p.Thr271Ser) | |
X | g.25013184T>C | CA16608823 | ARX | c.811A>G (p.Thr271Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013184T>G | CA412612384 | ARX | c.811A>C (p.Thr271Pro) | dbSNP |
X | g.25013184T= | CA2420209146 | ARX | c.811A= (p.Thr271=) | |
X | g.25013185G>A | CA515947559 | ARX | c.810C>T (p.Ala270=) | ClinVar dbSNP |
X | g.25013185G>C | CA515947560 | ARX | c.810C>G (p.Ala270=) | |
X | g.25013185G= | CA2420209147 | ARX | c.810C= (p.Ala270=) | |
X | g.25013185G>T | CA515947561 | ARX | c.810C>A (p.Ala270=) | |
X | g.25013186del | CA2532794375 | ARX | c.810del (p.Thr271LeufsTer?) | |
X | g.25013186G>A | CA412612385 | ARX | c.809C>T (p.Ala270Val) | gnomAD v4 |
X | g.25013186G>C | CA412612386 | ARX | c.809C>G (p.Ala270Gly) | |
X | g.25013186G>T | CA412612387 | ARX | c.809C>A (p.Ala270Asp) | gnomAD v4 |