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.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 |
X | g.25013187C>A | CA412612388 | ARX | c.808G>T (p.Ala270Ser) | |
X | g.25013187C= | CA2420209148 | ARX | c.808G= (p.Ala270=) | |
X | g.25013187C>G | CA412612389 | ARX | c.808G>C (p.Ala270Pro) | |
X | g.25013187C>T | CA16608410 | ARX | c.808G>A (p.Ala270Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013188G>A | CA171162 | ARX | c.807C>T (p.Ala269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013188G>C | CA515947570 | ARX | c.807C>G (p.Ala269=) | gnomAD v4 |
X | g.25013188G= | CA2420209149 | ARX | c.807C= (p.Ala269=) | |
X | g.25013188G>T | CA515947569 | ARX | c.807C>A (p.Ala269=) | gnomAD v4 |
X | g.25013189G>A | CA412612390 | ARX | c.806C>T (p.Ala269Val) | dbSNP gnomAD v4 |
X | g.25013189G>C | CA412612391 | ARX | c.806C>G (p.Ala269Gly) | |
X | g.25013189G= | CA2420209150 | ARX | c.806C= (p.Ala269=) | |
X | g.25013189G>T | CA412612392 | ARX | c.806C>A (p.Ala269Asp) | gnomAD v4 |
X | g.25013190C>A | CA412612393 | ARX | c.805G>T (p.Ala269Ser) | |
X | g.25013190C>G | CA412612394 | ARX | c.805G>C (p.Ala269Pro) | |
X | g.25013190C>T | CA412612395 | ARX | c.805G>A (p.Ala269Thr) | gnomAD v4 |
X | g.25013191C>A | CA515947573 | ARX | c.804G>T (p.Val268=) | |
X | g.25013191C= | CA2420209151 | ARX | c.804G= (p.Val268=) | |
X | g.25013191C>G | CA515947575 | ARX | c.804G>C (p.Val268=) | |
X | g.25013191C>T | CA327733044 | ARX | c.804G>A (p.Val268=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013192A= | CA2420209152 | ARX | c.803T= (p.Val268=) | |
X | g.25013192A>C | CA224137 | ARX | c.803T>G (p.Val268Gly) | ClinVar dbSNP gnomAD v4 |
X | g.25013192A>G | CA412612396 | ARX | c.803T>C (p.Val268Ala) | |
X | g.25013192A>T | CA412612397 | ARX | c.803T>A (p.Val268Glu) |