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