Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25004210_25005726del | CA2573158583 | ARX | c.1449-816_*460del | ClinVar |
X | g.25004686C>A | CA412610517 | ARX | c.1673G>T (p.Gly558Val) | |
X | g.25004686C>G | CA412610519 | ARX | c.1673G>C (p.Gly558Ala) | |
X | g.25004686C>T | CA412610518 | ARX | c.1673G>A (p.Gly558Asp) | COSMIC |
X | g.25004687C>A | CA412610520 | ARX | c.1672G>T (p.Gly558Cys) | |
X | g.25004687C>G | CA412610522 | ARX | c.1672G>C (p.Gly558Arg) | |
X | g.25004687C>T | CA412610521 | ARX | c.1672G>A (p.Gly558Ser) | gnomAD v4 |
X | g.25004688C>A | CA515747764 | ARX | c.1671G>T (p.Thr557=) | gnomAD v4 |
X | g.25004688C= | CA2420205889 | ARX | c.1671G= (p.Thr557=) | |
X | g.25004688C>G | CA515747766 | ARX | c.1671G>C (p.Thr557=) | |
X | g.25004688C>T | CA149541 | ARX | c.1671G>A (p.Thr557=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004689G>A | CA412610523 | ARX | c.1670C>T (p.Thr557Met) | dbSNP gnomAD v2 |
X | g.25004689G>C | CA412610524 | ARX | c.1670C>G (p.Thr557Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25004689G= | CA2420205890 | ARX | c.1670C= (p.Thr557=) | |
X | g.25004689G>T | CA412610525 | ARX | c.1670C>A (p.Thr557Lys) | gnomAD v4 |
X | g.25004690T>A | CA412610526 | ARX | c.1669A>T (p.Thr557Ser) | |
X | g.25004690T>C | CA412610527 | ARX | c.1669A>G (p.Thr557Ala) | |
X | g.25004690T>G | CA412610528 | ARX | c.1669A>C (p.Thr557Pro) | |
X | g.25004691G>A | CA515747772 | ARX | c.1668C>T (p.Ser556=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25004691G>C | CA412610529 | ARX | c.1668C>G (p.Ser556Arg) | |
X | g.25004691G= | CA2420205891 | ARX | c.1668C= (p.Ser556=) | |
X | g.25004691G>T | CA412610530 | ARX | c.1668C>A (p.Ser556Arg) | gnomAD v4 |
X | g.25004692C>A | CA412610531 | ARX | c.1667G>T (p.Ser556Ile) | gnomAD v4 |
X | g.25004692C>G | CA412610532 | ARX | c.1667G>C (p.Ser556Thr) | gnomAD v4 |
X | g.25004692C>T | CA412610533 | ARX | c.1667G>A (p.Ser556Asn) | gnomAD v4 |
X | g.25004693T>A | CA412610534 | ARX | c.1666A>T (p.Ser556Cys) | |
X | g.25004693T>C | CA412610536 | ARX | c.1666A>G (p.Ser556Gly) | |
X | g.25004693T>G | CA412610535 | ARX | c.1666A>C (p.Ser556Arg) | |
X | g.25004694G>A | CA515747779 | ARX | c.1665C>T (p.Thr555=) | dbSNP gnomAD v4 |
X | g.25004694G>C | CA515747780 | ARX | c.1665C>G (p.Thr555=) | |
X | g.25004694G= | CA2420205892 | ARX | c.1665C= (p.Thr555=) | |
X | g.25004694G>T | CA515747782 | ARX | c.1665C>A (p.Thr555=) | |
X | g.25004695G>A | CA412610537 | ARX | c.1664C>T (p.Thr555Ile) | gnomAD v4 |
X | g.25004695G>C | CA412610538 | ARX | c.1664C>G (p.Thr555Ser) | |
X | g.25004695G>T | CA412610539 | ARX | c.1664C>A (p.Thr555Asn) | gnomAD v4 |
X | g.25004696T>A | CA412610540 | ARX | c.1663A>T (p.Thr555Ser) | |
X | g.25004696T>C | CA412610541 | ARX | c.1663A>G (p.Thr555Ala) | |
X | g.25004696T>G | CA412610542 | ARX | c.1663A>C (p.Thr555Pro) | |
X | g.25004697G>A | CA515747788 | ARX | c.1662C>T (p.Gly554=) | |
X | g.25004697G>C | CA515747789 | ARX | c.1662C>G (p.Gly554=) | |
X | g.25004697G>T | CA515747790 | ARX | c.1662C>A (p.Gly554=) | gnomAD v4 |
X | g.25004698C>A | CA412610543 | ARX | c.1661G>T (p.Gly554Val) | |
X | g.25004698C= | CA2420205893 | ARX | c.1661G= (p.Gly554=) | |
X | g.25004698C>G | CA412610544 | ARX | c.1661G>C (p.Gly554Ala) | gnomAD v4 |
X | g.25004698C>T | CA327732406 | ARX | c.1661G>A (p.Gly554Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004699C>A | CA412610547 | ARX | c.1660G>T (p.Gly554Cys) | gnomAD v4 |
X | g.25004699C>G | CA412610546 | ARX | c.1660G>C (p.Gly554Arg) | |
X | g.25004699C>T | CA412610545 | ARX | c.1660G>A (p.Gly554Ser) | |
X | g.25004700C>A | CA515747797 | ARX | c.1659G>T (p.Pro553=) | |
X | g.25004700C>G | CA515747799 | ARX | c.1659G>C (p.Pro553=) |