Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25004210_25005726del | CA2573158583 | ARX | c.1449-816_*460del | ClinVar |
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=) | |
X | g.25004700C>T | CA515747801 | ARX | c.1659G>A (p.Pro553=) | ClinVar COSMIC |
X | g.25004701G>A | CA412610548 | ARX | c.1658C>T (p.Pro553Leu) | |
X | g.25004701G>C | CA412610549 | ARX | c.1658C>G (p.Pro553Arg) | |
X | g.25004701G>T | CA412610550 | ARX | c.1658C>A (p.Pro553Gln) | |
X | g.25004702G>A | CA10373763 | ARX | c.1657C>T (p.Pro553Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004702G>C | CA412610551 | ARX | c.1657C>G (p.Pro553Ala) | |
X | g.25004702G= | CA2420205894 | ARX | c.1657C= (p.Pro553=) | |
X | g.25004702G>T | CA412610552 | ARX | c.1657C>A (p.Pro553Thr) | |
X | g.25004703C>A | CA515747809 | ARX | c.1656G>T (p.Leu552=) | gnomAD v4 |
X | g.25004703C>G | CA515747811 | ARX | c.1656G>C (p.Leu552=) | |
X | g.25004703C>T | CA515747807 | ARX | c.1656G>A (p.Leu552=) | |
X | g.25004704A>C | CA412610553 | ARX | c.1655T>G (p.Leu552Arg) | |
X | g.25004704A>G | CA412610554 | ARX | c.1655T>C (p.Leu552Pro) | |
X | g.25004704A>T | CA412610555 | ARX | c.1655T>A (p.Leu552Gln) | |
X | g.25004705G>A | CA515747815 | ARX | c.1654C>T (p.Leu552=) | |
X | g.25004705G>C | CA412610556 | ARX | c.1654C>G (p.Leu552Val) | |
X | g.25004705G>T | CA412610557 | ARX | c.1654C>A (p.Leu552Met) | gnomAD v4 |
X | g.25004706G>A | CA515747820 | ARX | c.1653C>T (p.Ile551=) | |
X | g.25004706G>C | CA412610558 | ARX | c.1653C>G (p.Ile551Met) | |
X | g.25004706G>T | CA515747818 | ARX | c.1653C>A (p.Ile551=) | gnomAD v4 |
X | g.25004707A>C | CA412610561 | ARX | c.1652T>G (p.Ile551Ser) | |
X | g.25004707A>G | CA412610559 | ARX | c.1652T>C (p.Ile551Thr) | |
X | g.25004707A>T | CA412610560 | ARX | c.1652T>A (p.Ile551Asn) | |
X | g.25004708T>A | CA412610562 | ARX | c.1651A>T (p.Ile551Phe) | |
X | g.25004708T>C | CA412610563 | ARX | c.1651A>G (p.Ile551Val) | gnomAD v4 |
X | g.25004708T>G | CA412610564 | ARX | c.1651A>C (p.Ile551Leu) | gnomAD v4 |
X | g.25004709G>A | CA515747826 | ARX | c.1650C>T (p.Asn550=) | gnomAD v4 |
X | g.25004709G>C | CA412610565 | ARX | c.1650C>G (p.Asn550Lys) | |
X | g.25004709G>T | CA412610566 | ARX | c.1650C>A (p.Asn550Lys) | |
X | g.25004710T>A | CA412610567 | ARX | c.1649A>T (p.Asn550Ile) | |
X | g.25004710T>C | CA412610568 | ARX | c.1649A>G (p.Asn550Ser) | |
X | g.25004710T>G | CA412610569 | ARX | c.1649A>C (p.Asn550Thr) | |
X | g.25004710T= | CA2420205895 | ARX | c.1649A= (p.Asn550=) | |
X | g.25004711T>A | CA412610570 | ARX | c.1648A>T (p.Asn550Tyr) |