Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25004210_25005726del | CA2573158583 | ARX | c.1449-816_*460del | ClinVar |
X | g.25004671T>A | CA412610482 | ARX | c.1688A>T (p.Ter563Leu) | |
X | g.25004671T>C | CA515747726 | ARX | c.1688A>G (p.Ter563=) | |
X | g.25004671T>G | CA412610483 | ARX | c.1688A>C (p.Ter563Ser) | |
X | g.25004672A>C | CA412610484 | ARX | c.1687T>G (p.Ter563Glu) | |
X | g.25004672A>G | CA412610485 | ARX | c.1687T>C (p.Ter563Gln) | |
X | g.25004672A>T | CA412610486 | ARX | c.1687T>A (p.Ter563Lys) | |
X | g.25004673G>A | CA515747731 | ARX | c.1686C>T (p.Cys562=) | |
X | g.25004673G>C | CA412610487 | ARX | c.1686C>G (p.Cys562Trp) | |
X | g.25004673G>T | CA412610488 | ARX | c.1686C>A (p.Cys562Ter) | |
X | g.25004674C>A | CA412610489 | ARX | c.1685G>T (p.Cys562Phe) | |
X | g.25004674C>G | CA412610490 | ARX | c.1685G>C (p.Cys562Ser) | |
X | g.25004674C>T | CA412610491 | ARX | c.1685G>A (p.Cys562Tyr) | |
X | g.25004675A= | CA2420205886 | ARX | c.1684T= (p.Cys562=) | |
X | g.25004675A>C | CA412610492 | ARX | c.1684T>G (p.Cys562Gly) | |
X | g.25004675A>G | CA412610493 | ARX | c.1684T>C (p.Cys562Arg) | ClinVar dbSNP |
X | g.25004675A>T | CA412610494 | ARX | c.1684T>A (p.Cys562Ser) | |
X | g.25004676C>A | CA515747736 | ARX | c.1683G>T (p.Val561=) | |
X | g.25004676C>G | CA515747737 | ARX | c.1683G>C (p.Val561=) | |
X | g.25004676C>T | CA515747738 | ARX | c.1683G>A (p.Val561=) | |
X | g.25004677A>C | CA412610496 | ARX | c.1682T>G (p.Val561Gly) | |
X | g.25004677A>G | CA412610497 | ARX | c.1682T>C (p.Val561Ala) | |
X | g.25004677A>T | CA412610495 | ARX | c.1682T>A (p.Val561Glu) | COSMIC |
X | g.25004677dup | CA913187412 | ARX | c.1682dup (p.Cys562ValfsTer?) | |
X | g.25004678C>A | CA412610498 | ARX | c.1681G>T (p.Val561Leu) | gnomAD v4 |
X | g.25004678C>G | CA412610499 | ARX | c.1681G>C (p.Val561Leu) | |
X | g.25004678C>T | CA412610500 | ARX | c.1681G>A (p.Val561Met) | gnomAD v4 |
X | g.25004679C>A | CA412610501 | ARX | c.1680G>T (p.Glu560Asp) | COSMIC |
X | g.25004679C= | CA2420205887 | ARX | c.1680G= (p.Glu560=) | |
X | g.25004679C>G | CA412610502 | ARX | c.1680G>C (p.Glu560Asp) | |
X | g.25004679C>T | CA515747745 | ARX | c.1680G>A (p.Glu560=) | dbSNP gnomAD v4 |
X | g.25004680T>A | CA412610505 | ARX | c.1679A>T (p.Glu560Val) | |
X | g.25004680T>C | CA412610503 | ARX | c.1679A>G (p.Glu560Gly) | |
X | g.25004680T>G | CA412610504 | ARX | c.1679A>C (p.Glu560Ala) | |
X | g.25004681C>A | CA412610506 | ARX | c.1678G>T (p.Glu560Ter) | |
X | g.25004681C>G | CA412610507 | ARX | c.1678G>C (p.Glu560Gln) | |
X | g.25004681C>T | CA412610508 | ARX | c.1678G>A (p.Glu560Lys) | |
X | g.25004682C>A | CA412610509 | ARX | c.1677G>T (p.Lys559Asn) | gnomAD v4 |
X | g.25004682C>G | CA412610510 | ARX | c.1677G>C (p.Lys559Asn) | |
X | g.25004682C>T | CA515747751 | ARX | c.1677G>A (p.Lys559=) | ClinVar dbSNP gnomAD v4 |
X | g.25004683T>A | CA412610513 | ARX | c.1676A>T (p.Lys559Met) | ClinVar |
X | g.25004683T>C | CA412610511 | ARX | c.1676A>G (p.Lys559Arg) | |
X | g.25004683T>G | CA412610512 | ARX | c.1676A>C (p.Lys559Thr) | |
X | g.25004684T>A | CA412610514 | ARX | c.1675A>T (p.Lys559Ter) | |
X | g.25004684T>C | CA412610516 | ARX | c.1675A>G (p.Lys559Glu) | |
X | g.25004684T>G | CA412610515 | ARX | c.1675A>C (p.Lys559Gln) | |
X | g.25004685G>A | CA515747757 | ARX | c.1674C>T (p.Gly558=) | |
X | g.25004685G>C | CA515747758 | ARX | c.1674C>G (p.Gly558=) | |
X | g.25004685G= | CA2420205888 | ARX | c.1674C= (p.Gly558=) | |
X | g.25004685G>T | CA327732405 | ARX | c.1674C>A (p.Gly558=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |