Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25004210_25005726del | CA2573158583 | ARX | c.1449-816_*460del | ClinVar |
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) | |
X | g.25004711T>C | CA412610571 | ARX | c.1648A>G (p.Asn550Asp) | |
X | g.25004711T>G | CA412610572 | ARX | c.1648A>C (p.Asn550His) | gnomAD v4 |
X | g.25004720_25004728dup | CA2420205896 | ARX | c.1640_1648dup (p.Leu549_Asn550insThrGlnLeu) | dbSNP |
X | g.25004712G>A | CA515747834 | ARX | c.1647C>T (p.Leu549=) | |
X | g.25004712G>C | CA515747835 | ARX | c.1647C>G (p.Leu549=) | |
X | g.25004712G>T | CA515747836 | ARX | c.1647C>A (p.Leu549=) | |
X | g.25004713A>C | CA412610574 | ARX | c.1646T>G (p.Leu549Arg) | |
X | g.25004713A>G | CA412610575 | ARX | c.1646T>C (p.Leu549Pro) | |
X | g.25004713A>T | CA412610573 | ARX | c.1646T>A (p.Leu549His) | |
X | g.25004714G>A | CA412610578 | ARX | c.1645C>T (p.Leu549Phe) | gnomAD v4 |
X | g.25004714G>C | CA412610576 | ARX | c.1645C>G (p.Leu549Val) | |
X | g.25004714G>T | CA412610577 | ARX | c.1645C>A (p.Leu549Ile) | gnomAD v4 |
X | g.25004715C>A | CA412610579 | ARX | c.1644G>T (p.Gln548His) | gnomAD v4 |
X | g.25004715C>G | CA412610580 | ARX | c.1644G>C (p.Gln548His) | |
X | g.25004715C>T | CA515747843 | ARX | c.1644G>A (p.Gln548=) | |
X | g.25004716T>A | CA412610581 | ARX | c.1643A>T (p.Gln548Leu) | gnomAD v3 gnomAD v4 |