Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25004210_25005726del | CA2573158583 | ARX | c.1449-816_*460del | ClinVar |
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 |
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) |