UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25004210_25005726del | CA2573158583 | ARX | c.1449-816_*460del | ClinVar |
| X | g.25004720_25004728dup | CA2420205896 | ARX | c.1640_1648dup (p.Leu549_Asn550insThrGlnLeu) | dbSNP |
| X | g.25004717G>A | CA412610584 | ARX | c.1642C>T (p.Gln548Ter) | dbSNP gnomAD v2 |
| X | g.25004717G>C | CA412610585 | ARX | c.1642C>G (p.Gln548Glu) | |
| X | g.25004717G= | CA2420205897 | ARX | c.1642C= (p.Gln548=) | |
| X | g.25004717G>T | CA412610586 | ARX | c.1642C>A (p.Gln548Lys) | |
| X | g.25004718C>A | CA515747850 | ARX | c.1641G>T (p.Thr547=) | gnomAD v4 |
| X | g.25004718C>G | CA515747851 | ARX | c.1641G>C (p.Thr547=) | gnomAD v4 |
| X | g.25004718C>T | CA515747853 | ARX | c.1641G>A (p.Thr547=) | ClinVar gnomAD v4 |
| X | g.25004719G>A | CA412610587 | ARX | c.1640C>T (p.Thr547Met) | |
| X | g.25004719G>C | CA412610588 | ARX | c.1640C>G (p.Thr547Arg) | |
| X | g.25004719G>T | CA412610589 | ARX | c.1640C>A (p.Thr547Lys) | gnomAD v4 |
| X | g.25004720T>A | CA412610592 | ARX | c.1639A>T (p.Thr547Ser) | |
| X | g.25004720T>C | CA412610590 | ARX | c.1639A>G (p.Thr547Ala) | |
| X | g.25004720T>G | CA412610591 | ARX | c.1639A>C (p.Thr547Pro) | |
| X | g.25004721G>A | CA10373764 | ARX | c.1638C>T (p.Leu546=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25004721G>C | CA515747860 | ARX | c.1638C>G (p.Leu546=) | ClinVar |
| X | g.25004721G= | CA2420205898 | ARX | c.1638C= (p.Leu546=) | |
| X | g.25004721G>T | CA515747862 | ARX | c.1638C>A (p.Leu546=) | gnomAD v4 |
| X | g.25004722A>C | CA412610593 | ARX | c.1637T>G (p.Leu546Arg) | |
| X | g.25004722A>G | CA412610594 | ARX | c.1637T>C (p.Leu546Pro) | |
| X | g.25004722A>T | CA412610595 | ARX | c.1637T>A (p.Leu546His) | |
| X | g.25004723G>A | CA412610596 | ARX | c.1636C>T (p.Leu546Phe) | |
| X | g.25004723G>C | CA412610597 | ARX | c.1636C>G (p.Leu546Val) | |
| X | g.25004723G>T | CA412610598 | ARX | c.1636C>A (p.Leu546Ile) | gnomAD v4 |
| X | g.25004724C>A | CA412610599 | ARX | c.1635G>T (p.Gln545His) | COSMIC |
| X | g.25004724C>G | CA412610600 | ARX | c.1635G>C (p.Gln545His) | |
| X | g.25004724C>T | CA515747869 | ARX | c.1635G>A (p.Gln545=) | |
| X | g.25004725T>A | CA412610601 | ARX | c.1634A>T (p.Gln545Leu) | |
| X | g.25004725T>C | CA412610602 | ARX | c.1634A>G (p.Gln545Arg) | |
| X | g.25004725T>G | CA412610603 | ARX | c.1634A>C (p.Gln545Pro) | |
| X | g.25004726G>A | CA412610606 | ARX | c.1633C>T (p.Gln545Ter) | |
| X | g.25004726G>C | CA412610605 | ARX | c.1633C>G (p.Gln545Glu) | |
| X | g.25004726G>T | CA412610604 | ARX | c.1633C>A (p.Gln545Lys) | |
| X | g.25004727C>A | CA515747874 | ARX | c.1632G>T (p.Ala544=) | gnomAD v4 |
| X | g.25004727C= | CA2420205899 | ARX | c.1632G= (p.Ala544=) | |
| X | g.25004727C>G | CA515747876 | ARX | c.1632G>C (p.Ala544=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25004727C>T | CA515747878 | ARX | c.1632G>A (p.Ala544=) | gnomAD v4 |
| X | g.25004728G>A | CA412610607 | ARX | c.1631C>T (p.Ala544Val) | gnomAD v4 COSMIC |
| X | g.25004728G>C | CA412610608 | ARX | c.1631C>G (p.Ala544Gly) | |
| X | g.25004728G>T | CA412610609 | ARX | c.1631C>A (p.Ala544Glu) | |
| X | g.25004729C>A | CA412610610 | ARX | c.1630G>T (p.Ala544Ser) | gnomAD v4 COSMIC |
| X | g.25004729C>G | CA412610611 | ARX | c.1630G>C (p.Ala544Pro) | |
| X | g.25004729C>T | CA412610612 | ARX | c.1630G>A (p.Ala544Thr) | gnomAD v4 |
| X | g.25004730C>A | CA515747884 | ARX | c.1629G>T (p.Ala543=) | gnomAD v4 |
| X | g.25004730C= | CA2420205900 | ARX | c.1629G= (p.Ala543=) | |
| X | g.25004730C>G | CA515747886 | ARX | c.1629G>C (p.Ala543=) | |
| X | g.25004730C>T | CA10373765 | ARX | c.1629G>A (p.Ala543=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25004731G>A | CA10373766 | ARX | c.1628C>T (p.Ala543Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25004731G>C | CA412610613 | ARX | c.1628C>G (p.Ala543Gly) | |
| X | g.25004731G= | CA2420205901 | ARX | c.1628C= (p.Ala543=) | |
| X | g.25004731G>T | CA412610614 | ARX | c.1628C>A (p.Ala543Glu) | gnomAD v4 |
| X | g.25004734_25004841del | CA2558513964 | ARX | c.1521_1628del (p.Val508_Ala543del) | |
| X | g.25004732C>A | CA412610615 | ARX | c.1627G>T (p.Ala543Ser) | gnomAD v4 COSMIC |
| X | g.25004732C>G | CA412610616 | ARX | c.1627G>C (p.Ala543Pro) | |
| X | g.25004732C>T | CA412610617 | ARX | c.1627G>A (p.Ala543Thr) | gnomAD v4 |
| X | g.25004733G>A | CA515747892 | ARX | c.1626C>T (p.His542=) | gnomAD v4 |
| X | g.25004733G>C | CA412610619 | ARX | c.1626C>G (p.His542Gln) | |
| X | g.25004733G>T | CA412610618 | ARX | c.1626C>A (p.His542Gln) | gnomAD v4 |
| X | g.25004734T>A | CA412610620 | ARX | c.1625A>T (p.His542Leu) | |
| X | g.25004734T>C | CA412610621 | ARX | c.1625A>G (p.His542Arg) | |
| X | g.25004734T>G | CA412610622 | ARX | c.1625A>C (p.His542Pro) | |
| X | g.25004735G>A | CA412610623 | ARX | c.1624C>T (p.His542Tyr) | gnomAD v4 |
| X | g.25004735G>C | CA412610624 | ARX | c.1624C>G (p.His542Asp) | |
| X | g.25004735G>T | CA412610625 | ARX | c.1624C>A (p.His542Asn) | ClinVar gnomAD v4 |
| X | g.25004736C>A | CA412610626 | ARX | c.1623G>T (p.Glu541Asp) | |
| X | g.25004736C= | CA2420205902 | ARX | c.1623G= (p.Glu541=) | |
| X | g.25004736C>G | CA412610627 | ARX | c.1623G>C (p.Glu541Asp) | ClinVar dbSNP |
| X | g.25004736C>T | CA515747900 | ARX | c.1623G>A (p.Glu541=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25004737T>A | CA412610628 | ARX | c.1622A>T (p.Glu541Val) | gnomAD v4 |
| X | g.25004737T>C | CA412610629 | ARX | c.1622A>G (p.Glu541Gly) | gnomAD v4 |
| X | g.25004737T>G | CA412610630 | ARX | c.1622A>C (p.Glu541Ala) | |
| X | g.25004738C>A | CA412610631 | ARX | c.1621G>T (p.Glu541Ter) | ClinVar dbSNP |
| X | g.25004738C= | CA2420205903 | ARX | c.1621G= (p.Glu541=) | |
| X | g.25004738C>G | CA327732407 | ARX | c.1621G>C (p.Glu541Gln) | dbSNP |
| X | g.25004738C>T | CA412610632 | ARX | c.1621G>A (p.Glu541Lys) | gnomAD v4 COSMIC |
| X | g.25004738_25004766delinsCCTTGGCCTTGAGCCTCAGCGCGGCTATG | CA2420205904 | ARX | c.1593_1621delinsCATAGCCGCGCTGAGGCTCAAGGCCAAGG (p.Ser531=) | |
| X | g.25004739C>A | CA412610634 | ARX | c.1620G>T (p.Lys540Asn) | gnomAD v4 |
| X | g.25004739C>G | CA412610633 | ARX | c.1620G>C (p.Lys540Asn) | |
| X | g.25004739C>T | CA515747906 | ARX | c.1620G>A (p.Lys540=) | gnomAD v4 |
| X | g.25004741_25004768del | CA915950800 | ARX | c.1593_1620del (p.Ser531ArgfsTer?) | ClinVar dbSNP |
| X | g.25004740T>A | CA412610635 | ARX | c.1619A>T (p.Lys540Met) | |
| X | g.25004740T>C | CA412610637 | ARX | c.1619A>G (p.Lys540Arg) | dbSNP gnomAD v4 |
| X | g.25004740T>G | CA412610636 | ARX | c.1619A>C (p.Lys540Thr) | |
| X | g.25004740T= | CA2420205905 | ARX | c.1619A= (p.Lys540=) | |
| X | g.25004741T>A | CA412610638 | ARX | c.1618A>T (p.Lys540Ter) | gnomAD v4 |
| X | g.25004741T>C | CA412610639 | ARX | c.1618A>G (p.Lys540Glu) | ClinVar dbSNP |
| X | g.25004741T>G | CA412610640 | ARX | c.1618A>C (p.Lys540Gln) | |
| X | g.25004741T= | CA2420205906 | ARX | c.1618A= (p.Lys540=) | |
| X | g.25004742G>A | CA515747913 | ARX | c.1617C>T (p.Ala539=) | gnomAD v4 |
| X | g.25004742G>C | CA515747914 | ARX | c.1617C>G (p.Ala539=) | |
| X | g.25004742G>T | CA515747916 | ARX | c.1617C>A (p.Ala539=) | |
| X | g.25004743G>A | CA412610641 | ARX | c.1616C>T (p.Ala539Val) | ClinVar dbSNP |
| X | g.25004743G>C | CA412610642 | ARX | c.1616C>G (p.Ala539Gly) | |
| X | g.25004743G= | CA2420205907 | ARX | c.1616C= (p.Ala539=) | |
| X | g.25004743G>T | CA412610643 | ARX | c.1616C>A (p.Ala539Asp) | gnomAD v4 |
| X | g.25004744C>A | CA412610646 | ARX | c.1615G>T (p.Ala539Ser) | gnomAD v4 |
| X | g.25004744C>G | CA412610644 | ARX | c.1615G>C (p.Ala539Pro) | |
| X | g.25004744C>T | CA412610645 | ARX | c.1615G>A (p.Ala539Thr) | ClinVar dbSNP |
| X | g.25004745C>A | CA412610647 | ARX | c.1614G>T (p.Lys538Asn) | gnomAD v4 |
| X | g.25004745C>G | CA412610648 | ARX | c.1614G>C (p.Lys538Asn) | |
| X | g.25004745C>T | CA515747923 | ARX | c.1614G>A (p.Lys538=) | |
| X | g.25004746T>A | CA412610649 | ARX | c.1613A>T (p.Lys538Met) | |
| X | g.25004746T>C | CA412610650 | ARX | c.1613A>G (p.Lys538Arg) | |
| X | g.25004746T>G | CA412610651 | ARX | c.1613A>C (p.Lys538Thr) | gnomAD v4 |
| X | g.25004747T>A | CA412610652 | ARX | c.1612A>T (p.Lys538Ter) | |
| X | g.25004747T>C | CA16621348 | ARX | c.1612A>G (p.Lys538Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.25004747T>G | CA412610653 | ARX | c.1612A>C (p.Lys538Gln) | |
| X | g.25004747T= | CA2420205908 | ARX | c.1612A= (p.Lys538=) | |
| X | g.25004748G>A | CA515747930 | ARX | c.1611C>T (p.Leu537=) | |
| X | g.25004748G>C | CA515747932 | ARX | c.1611C>G (p.Leu537=) | ClinVar gnomAD v4 |
| X | g.25004748G>T | CA515747934 | ARX | c.1611C>A (p.Leu537=) | |
| X | g.25004749A= | CA2420205909 | ARX | c.1610T= (p.Leu537=) | |
| X | g.25004749A>C | CA412610654 | ARX | c.1610T>G (p.Leu537Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004749A>G | CA412610655 | ARX | c.1610T>C (p.Leu537Pro) | ClinVar gnomAD v4 |
| X | g.25004749A>T | CA412610656 | ARX | c.1610T>A (p.Leu537His) | |
| X | g.25004750G>A | CA412610657 | ARX | c.1609C>T (p.Leu537Phe) | |
| X | g.25004750G>C | CA412610658 | ARX | c.1609C>G (p.Leu537Val) | |
| X | g.25004750G>T | CA412610659 | ARX | c.1609C>A (p.Leu537Ile) | gnomAD v4 |
| X | g.25004751C>A | CA412610660 | ARX | c.1608G>T (p.Arg536Ser) | gnomAD v4 |
| X | g.25004751C= | CA2420205910 | ARX | c.1608G= (p.Arg536=) | |
| X | g.25004751C>G | CA412610661 | ARX | c.1608G>C (p.Arg536Ser) | gnomAD v4 |
| X | g.25004751C>T | CA515747940 | ARX | c.1608G>A (p.Arg536=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004752C>A | CA412610662 | ARX | c.1607G>T (p.Arg536Met) | gnomAD v4 |
| X | g.25004752C= | CA2420205911 | ARX | c.1607G= (p.Arg536=) | |
| X | g.25004752C>G | CA412610663 | ARX | c.1607G>C (p.Arg536Thr) | ClinVar dbSNP |
| X | g.25004752C>T | CA412610664 | ARX | c.1607G>A (p.Arg536Lys) | |
| X | g.25004753T>A | CA412610666 | ARX | c.1606A>T (p.Arg536Trp) | gnomAD v4 |
| X | g.25004753T>C | CA412610665 | ARX | c.1606A>G (p.Arg536Gly) | gnomAD v4 |
| X | g.25004753T>G | CA515747946 | ARX | c.1606A>C (p.Arg536=) | |
| X | g.25004754C>A | CA515747948 | ARX | c.1605G>T (p.Leu535=) | gnomAD v4 |
| X | g.25004754C= | CA2420205912 | ARX | c.1605G= (p.Leu535=) | |
| X | g.25004754C>G | CA515747949 | ARX | c.1605G>C (p.Leu535=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004754C>T | CA515747951 | ARX | c.1605G>A (p.Leu535=) | |
| X | g.25004755A= | CA2420205913 | ARX | c.1604T= (p.Leu535=) | |
| X | g.25004755A>C | CA412610667 | ARX | c.1604T>G (p.Leu535Arg) | |
| X | g.25004755A>G | CA412610668 | ARX | c.1604T>C (p.Leu535Pro) | ClinVar gnomAD v4 |
| X | g.25004755A>T | CA128802 | ARX | c.1604T>A (p.Leu535Gln) | ClinVar dbSNP |
| X | g.25004755dup | CA2695233366 | ARX | c.1604dup (p.Arg536GlufsTer?) | |
| X | g.25004756G>A | CA515747956 | ARX | c.1603C>T (p.Leu535=) | |
| X | g.25004756G>C | CA412610669 | ARX | c.1603C>G (p.Leu535Val) | |
| X | g.25004756G>T | CA412610670 | ARX | c.1603C>A (p.Leu535Met) | |
| X | g.25004757C>A | CA515747957 | ARX | c.1602G>T (p.Ala534=) | gnomAD v4 |
| X | g.25004757C= | CA2420205914 | ARX | c.1602G= (p.Ala534=) | |
| X | g.25004757C>G | CA515747959 | ARX | c.1602G>C (p.Ala534=) | ClinVar |
| X | g.25004757C>T | CA515747961 | ARX | c.1602G>A (p.Ala534=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004758G>A | CA412610671 | ARX | c.1601C>T (p.Ala534Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.25004758G>C | CA412610672 | ARX | c.1601C>G (p.Ala534Gly) | gnomAD v4 |
| X | g.25004758G= | CA2420205915 | ARX | c.1601C= (p.Ala534=) | |
| X | g.25004758G>T | CA412610673 | ARX | c.1601C>A (p.Ala534Glu) | gnomAD v4 |
| X | g.25004759C>A | CA412610674 | ARX | c.1600G>T (p.Ala534Ser) | gnomAD v4 |
| X | g.25004759C= | CA2420205916 | ARX | c.1600G= (p.Ala534=) | |
| X | g.25004759C>G | CA412610676 | ARX | c.1600G>C (p.Ala534Pro) | ClinVar |
| X | g.25004759C>T | CA412610675 | ARX | c.1600G>A (p.Ala534Thr) | |
| X | g.25004760G>A | CA515747968 | ARX | c.1599C>T (p.Ala533=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004760G>C | CA515747969 | ARX | c.1599C>G (p.Ala533=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25004760G= | CA2420205917 | ARX | c.1599C= (p.Ala533=) | |
| X | g.25004760G>T | CA16608403 | ARX | c.1599C>A (p.Ala533=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25004760_25004766dup | CA16043267 | ARX | c.1593_1599dup (p.Ala534HisfsTer?) | ClinVar dbSNP |
| X | g.25004761G>A | CA412610677 | ARX | c.1598C>T (p.Ala533Val) | gnomAD v4 |
| X | g.25004761G>C | CA412610678 | ARX | c.1598C>G (p.Ala533Gly) | |
| X | g.25004761G>T | CA412610679 | ARX | c.1598C>A (p.Ala533Asp) | |
| X | g.25004762C>A | CA412610680 | ARX | c.1597G>T (p.Ala533Ser) | gnomAD v4 |
| X | g.25004762C= | CA2420205918 | ARX | c.1597G= (p.Ala533=) | |
| X | g.25004762C>G | CA412610681 | ARX | c.1597G>C (p.Ala533Pro) | |
| X | g.25004762C>T | CA16608404 | ARX | c.1597G>A (p.Ala533Thr) | ClinVar dbSNP |
| X | g.25004763T>A | CA515747976 | ARX | c.1596A>T (p.Ile532=) | gnomAD v4 |
| X | g.25004763T>C | CA412610682 | ARX | c.1596A>G (p.Ile532Met) | |
| X | g.25004763T>G | CA515747978 | ARX | c.1596A>C (p.Ile532=) | |
| X | g.25004764A>C | CA412610683 | ARX | c.1595T>G (p.Ile532Arg) | |
| X | g.25004764A>G | CA412610684 | ARX | c.1595T>C (p.Ile532Thr) | |
| X | g.25004764A>T | CA412610685 | ARX | c.1595T>A (p.Ile532Lys) | |
| X | g.25004765T>A | CA412610686 | ARX | c.1594A>T (p.Ile532Leu) | |
| X | g.25004765T>C | CA412610687 | ARX | c.1594A>G (p.Ile532Val) | |
| X | g.25004765T>G | CA412610688 | ARX | c.1594A>C (p.Ile532Leu) | |
| X | g.25004766G>A | CA515747985 | ARX | c.1593C>T (p.Ser531=) | gnomAD v4 |
| X | g.25004766G>C | CA412610689 | ARX | c.1593C>G (p.Ser531Arg) | gnomAD v4 |
| X | g.25004766G>T | CA412610690 | ARX | c.1593C>A (p.Ser531Arg) | gnomAD v4 |
| X | g.25004767C>A | CA412610691 | ARX | c.1592G>T (p.Ser531Ile) | gnomAD v4 |
| X | g.25004767C= | CA2420205919 | ARX | c.1592G= (p.Ser531=) | |
| X | g.25004767C>G | CA412610692 | ARX | c.1592G>C (p.Ser531Thr) | |
| X | g.25004767C>T | CA412610693 | ARX | c.1592G>A (p.Ser531Asn) | dbSNP gnomAD v2 |
| X | g.25004768T>A | CA412610694 | ARX | c.1591A>T (p.Ser531Cys) | gnomAD v4 |
| X | g.25004768T>C | CA412610696 | ARX | c.1591A>G (p.Ser531Gly) | |
| X | g.25004768T>G | CA412610695 | ARX | c.1591A>C (p.Ser531Arg) | |
| X | g.25004769del | CA2693352424 | ARX | c.1590del (p.Ser531AlafsTer2) | gnomAD v4 |
| X | g.25004769A= | CA2420205920 | ARX | c.1590T= (p.Ser530=) | |
| X | g.25004769A>C | CA515747996 | ARX | c.1590T>G (p.Ser530=) | |
| X | g.25004769A>G | CA515747993 | ARX | c.1590T>C (p.Ser530=) | |
| X | g.25004769A>T | CA515747994 | ARX | c.1590T>A (p.Ser530=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25004770G>A | CA412610697 | ARX | c.1589C>T (p.Ser530Phe) | |
| X | g.25004770G>C | CA412610699 | ARX | c.1589C>G (p.Ser530Cys) | ClinVar dbSNP |
| X | g.25004770G= | CA2420205921 | ARX | c.1589C= (p.Ser530=) | |
| X | g.25004770G>T | CA412610698 | ARX | c.1589C>A (p.Ser530Tyr) | |
| X | g.25004771A>C | CA412610700 | ARX | c.1588T>G (p.Ser530Ala) | |
| X | g.25004771A>G | CA412610701 | ARX | c.1588T>C (p.Ser530Pro) | |
| X | g.25004771A>T | CA412610702 | ARX | c.1588T>A (p.Ser530Thr) | |
| X | g.25004772G>A | CA515748003 | ARX | c.1587C>T (p.Ala529=) | ClinVar dbSNP |
| X | g.25004772G>C | CA515748007 | ARX | c.1587C>G (p.Ala529=) | ClinVar |
| X | g.25004772G= | CA2420205922 | ARX | c.1587C= (p.Ala529=) | |
| X | g.25004772G>T | CA515748005 | ARX | c.1587C>A (p.Ala529=) | gnomAD v4 |
| X | g.25004773G>A | CA412610703 | ARX | c.1586C>T (p.Ala529Val) | |
| X | g.25004773G>C | CA412610704 | ARX | c.1586C>G (p.Ala529Gly) | |
| X | g.25004773G>T | CA412610705 | ARX | c.1586C>A (p.Ala529Asp) | |
| X | g.25004774C>A | CA412610706 | ARX | c.1585G>T (p.Ala529Ser) | gnomAD v4 |
| X | g.25004774C>G | CA412610707 | ARX | c.1585G>C (p.Ala529Pro) | |
| X | g.25004774C>T | CA412610708 | ARX | c.1585G>A (p.Ala529Thr) | gnomAD v4 |
| X | g.25004775G>A | CA515748017 | ARX | c.1584C>T (p.Arg528=) | gnomAD v4 |
| X | g.25004775G>C | CA515748018 | ARX | c.1584C>G (p.Arg528=) | |
| X | g.25004775G>T | CA515748020 | ARX | c.1584C>A (p.Arg528=) | |
| X | g.25004776C>A | CA412610709 | ARX | c.1583G>T (p.Arg528Leu) | ClinVar |
| X | g.25004776C>G | CA412610710 | ARX | c.1583G>C (p.Arg528Pro) | |
| X | g.25004776C>T | CA412610711 | ARX | c.1583G>A (p.Arg528His) | gnomAD v4 |
| X | g.25004776_25004780delinsCGTCT | CA2420205923 | ARX | c.1579_1583delinsAGACG (p.Arg527=) | |
| X | g.25004777G>A | CA412610712 | ARX | c.1582C>T (p.Arg528Cys) | gnomAD v4 |
| X | g.25004777G>C | CA412610714 | ARX | c.1582C>G (p.Arg528Gly) | |
| X | g.25004777G= | CA2420205924 | ARX | c.1582C= (p.Arg528=) | |
| X | g.25004777G>T | CA412610713 | ARX | c.1582C>A (p.Arg528Ser) | dbSNP gnomAD v2 |
| X | g.25004782_25004785del | CA16043587 | ARX | c.1579_1582del (p.Arg527AlafsTer5) | ClinVar dbSNP |
| X | g.25004778T>A | CA412610715 | ARX | c.1581A>T (p.Arg527Ser) | |
| X | g.25004778T>C | CA515748028 | ARX | c.1581A>G (p.Arg527=) | |
| X | g.25004778T>G | CA412610716 | ARX | c.1581A>C (p.Arg527Ser) | |
| X | g.25004779C>A | CA412610717 | ARX | c.1580G>T (p.Arg527Ile) | |
| X | g.25004779C>G | CA412610718 | ARX | c.1580G>C (p.Arg527Thr) | |
| X | g.25004779C>T | CA412610719 | ARX | c.1580G>A (p.Arg527Lys) | |
| X | g.25004780T>A | CA412610720 | ARX | c.1579A>T (p.Arg527Ter) | ClinVar dbSNP |
| X | g.25004780T>C | CA412610721 | ARX | c.1579A>G (p.Arg527Gly) | |
| X | g.25004780T>G | CA515748034 | ARX | c.1579A>C (p.Arg527=) | |
| X | g.25004780T= | CA2420205925 | ARX | c.1579A= (p.Arg527=) | |
| X | g.25004781G>A | CA515748037 | ARX | c.1578C>T (p.Asp526=) | gnomAD v3 gnomAD v4 |
| X | g.25004781G>C | CA412610722 | ARX | c.1578C>G (p.Asp526Glu) | |
| X | g.25004781G>T | CA412610723 | ARX | c.1578C>A (p.Asp526Glu) | gnomAD v4 |
| X | g.25004782T>A | CA412610725 | ARX | c.1577A>T (p.Asp526Val) | |
| X | g.25004782T>C | CA412610726 | ARX | c.1577A>G (p.Asp526Gly) | gnomAD v4 |
| X | g.25004782T>G | CA412610724 | ARX | c.1577A>C (p.Asp526Ala) | |
| X | g.25004783C>A | CA412610727 | ARX | c.1576G>T (p.Asp526Tyr) | gnomAD v4 |
| X | g.25004783C>G | CA412610728 | ARX | c.1576G>C (p.Asp526His) | |
| X | g.25004783C>T | CA412610729 | ARX | c.1576G>A (p.Asp526Asn) | |
| X | g.25004784T>A | CA515748043 | ARX | c.1575A>T (p.Ala525=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25004784T>C | CA515748045 | ARX | c.1575A>G (p.Ala525=) | gnomAD v4 |
| X | g.25004784T>G | CA515748046 | ARX | c.1575A>C (p.Ala525=) | |
| X | g.25004784T= | CA2420205926 | ARX | c.1575A= (p.Ala525=) | |
| X | g.25004785G>A | CA412610730 | ARX | c.1574C>T (p.Ala525Val) | |
| X | g.25004785G>C | CA412610731 | ARX | c.1574C>G (p.Ala525Gly) | |
| X | g.25004785G>T | CA412610732 | ARX | c.1574C>A (p.Ala525Glu) | |
| X | g.25004786C>A | CA412610733 | ARX | c.1573G>T (p.Ala525Ser) | gnomAD v4 |
| X | g.25004786C>G | CA412610734 | ARX | c.1573G>C (p.Ala525Pro) | |
| X | g.25004786C>T | CA412610735 | ARX | c.1573G>A (p.Ala525Thr) | |
| X | g.25004787G>A | CA515748053 | ARX | c.1572C>T (p.Ala524=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.25004787G>C | CA515748056 | ARX | c.1572C>G (p.Ala524=) | |
| X | g.25004787G= | CA2420205927 | ARX | c.1572C= (p.Ala524=) | |
| X | g.25004787G>T | CA515748054 | ARX | c.1572C>A (p.Ala524=) | |
| X | g.25004788G>A | CA412610736 | ARX | c.1571C>T (p.Ala524Val) | |
| X | g.25004788G>C | CA412610737 | ARX | c.1571C>G (p.Ala524Gly) | |
| X | g.25004788G>T | CA412610738 | ARX | c.1571C>A (p.Ala524Asp) | gnomAD v4 |
| X | g.25004789C>A | CA412610740 | ARX | c.1570G>T (p.Ala524Ser) | gnomAD v4 |
| X | g.25004789C>G | CA412610741 | ARX | c.1570G>C (p.Ala524Pro) | |
| X | g.25004789C>T | CA412610739 | ARX | c.1570G>A (p.Ala524Thr) | |
| X | g.25004790C>A | CA515748067 | ARX | c.1569G>T (p.Ala523=) | gnomAD v4 |
| X | g.25004790C= | CA2420205928 | ARX | c.1569G= (p.Ala523=) | |
| X | g.25004790C>G | CA515748065 | ARX | c.1569G>C (p.Ala523=) | ClinVar dbSNP |
| X | g.25004790C>T | CA515748063 | ARX | c.1569G>A (p.Ala523=) | ClinVar |
| X | g.25004791G>A | CA412610742 | ARX | c.1568C>T (p.Ala523Val) | ClinVar dbSNP gnomAD v4 |
| X | g.25004791G>C | CA412610743 | ARX | c.1568C>G (p.Ala523Gly) | |
| X | g.25004791G= | CA2420205929 | ARX | c.1568C= (p.Ala523=) | |
| X | g.25004791G>T | CA412610744 | ARX | c.1568C>A (p.Ala523Glu) | gnomAD v4 |
| X | g.25004792_25004796dup | CA2695233367 | ARX | c.1564_1568dup (p.Ala524ArgfsTer11) | |
| X | g.25004792C>A | CA412610745 | ARX | c.1567G>T (p.Ala523Ser) | gnomAD v4 |
| X | g.25004792C>G | CA412610746 | ARX | c.1567G>C (p.Ala523Pro) | gnomAD v4 |
| X | g.25004792C>T | CA412610747 | ARX | c.1567G>A (p.Ala523Thr) | gnomAD v4 |
| X | g.25004793C>A | CA515748068 | ARX | c.1566G>T (p.Thr522=) | gnomAD v4 |
| X | g.25004793C= | CA2420205930 | ARX | c.1566G= (p.Thr522=) | |
| X | g.25004793C>G | CA515748070 | ARX | c.1566G>C (p.Thr522=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25004793C>T | CA515748069 | ARX | c.1566G>A (p.Thr522=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25004794G>A | CA412610748 | ARX | c.1565C>T (p.Thr522Met) | gnomAD v4 |
| X | g.25004794G>C | CA412610750 | ARX | c.1565C>G (p.Thr522Arg) | |
| X | g.25004794G>T | CA412610749 | ARX | c.1565C>A (p.Thr522Lys) | gnomAD v4 |
| X | g.25004795T>A | CA412610751 | ARX | c.1564A>T (p.Thr522Ser) | |
| X | g.25004795T>C | CA412610752 | ARX | c.1564A>G (p.Thr522Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004795T>G | CA412610753 | ARX | c.1564A>C (p.Thr522Pro) | |
| X | g.25004795T= | CA2420205931 | ARX | c.1564A= (p.Thr522=) | |
| X | g.25004796G>A | CA10373767 | ARX | c.1563C>T (p.Ala521=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25004796G>C | CA515748071 | ARX | c.1563C>G (p.Ala521=) | |
| X | g.25004796G= | CA2420205932 | ARX | c.1563C= (p.Ala521=) | |
| X | g.25004796G>T | CA515748072 | ARX | c.1563C>A (p.Ala521=) | gnomAD v4 |
| X | g.25004797G>A | CA412610754 | ARX | c.1562C>T (p.Ala521Val) | gnomAD v4 |
| X | g.25004797G>C | CA412610756 | ARX | c.1562C>G (p.Ala521Gly) | |
| X | g.25004797G>T | CA412610755 | ARX | c.1562C>A (p.Ala521Asp) | |
| X | g.25004798C>A | CA412610757 | ARX | c.1561G>T (p.Ala521Ser) | gnomAD v4 |
| X | g.25004798C= | CA2420205934 | ARX | c.1561G= (p.Ala521=) | |
| X | g.25004798C>G | CA412610758 | ARX | c.1561G>C (p.Ala521Pro) | gnomAD v4 |
| X | g.25004798C>T | CA206413 | ARX | c.1561G>A (p.Ala521Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25004798_25004839delinsCCGGGTCGGCCAGGGCGCCCGATGCCACTGCGCCCTCCACGG | CA2420205933 | ARX | c.1520_1561delinsCCGTGGAGGGCGCAGTGGCATCGGGCGCCCTGGCCGACCCGG (p.Ala507=) | |
| X | g.25004799C>A | CA515748073 | ARX | c.1560G>T (p.Pro520=) | gnomAD v4 |
| X | g.25004799C= | CA2420205935 | ARX | c.1560G= (p.Pro520=) | |
| X | g.25004799C>G | CA515748074 | ARX | c.1560G>C (p.Pro520=) | |
| X | g.25004799C>T | CA515748075 | ARX | c.1560G>A (p.Pro520=) | dbSNP gnomAD v2 |
| X | g.25004804_25004844del | CA891843837 | ARX | c.1520_1560del (p.Ala507GlyfsTer11) | ClinVar dbSNP |
| X | g.25004800G>A | CA412610759 | ARX | c.1559C>T (p.Pro520Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004800G>C | CA412610761 | ARX | c.1559C>G (p.Pro520Arg) | |
| X | g.25004800G= | CA2420205936 | ARX | c.1559C= (p.Pro520=) | |
| X | g.25004800G>T | CA412610760 | ARX | c.1559C>A (p.Pro520Gln) | gnomAD v4 |
| X | g.25004802del | CA2740092063 | ARX | c.1559del (p.Pro520ArgfsTer13) | ClinVar |
| X | g.25004801G>A | CA412610762 | ARX | c.1558C>T (p.Pro520Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004801G>C | CA412610764 | ARX | c.1558C>G (p.Pro520Ala) | |
| X | g.25004801G= | CA2420205937 | ARX | c.1558C= (p.Pro520=) | |
| X | g.25004801G>T | CA412610763 | ARX | c.1558C>A (p.Pro520Thr) | gnomAD v4 |
| X | g.25004802G>A | CA515748076 | ARX | c.1557C>T (p.Asp519=) | |
| X | g.25004802G>C | CA10373768 | ARX | c.1557C>G (p.Asp519Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25004802G= | CA2420205938 | ARX | c.1557C= (p.Asp519=) | |
| X | g.25004802G>T | CA412610765 | ARX | c.1557C>A (p.Asp519Glu) | |
| X | g.25004803T>A | CA412610766 | ARX | c.1556A>T (p.Asp519Val) | |
| X | g.25004803T>C | CA412610767 | ARX | c.1556A>G (p.Asp519Gly) | gnomAD v4 |
| X | g.25004803T>G | CA412610768 | ARX | c.1556A>C (p.Asp519Ala) | ClinVar |
| X | g.25004803T= | CA2420205939 | ARX | c.1556A= (p.Asp519=) | |
| X | g.25004804C>A | CA412610769 | ARX | c.1555G>T (p.Asp519Tyr) | gnomAD v4 |
| X | g.25004804C= | CA2420205940 | ARX | c.1555G= (p.Asp519=) | |
| X | g.25004804C>G | CA412610770 | ARX | c.1555G>C (p.Asp519His) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004804C>T | CA412610771 | ARX | c.1555G>A (p.Asp519Asn) | gnomAD v4 |
| X | g.25004804_25004805insCC | CA915950801 | ARX | c.1555_1556insGG (p.Asp519GlyfsTer15) | ClinVar dbSNP |
| X | g.25004805G>A | CA515748077 | ARX | c.1554C>T (p.Ala518=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25004805G>C | CA515748078 | ARX | c.1554C>G (p.Ala518=) | |
| X | g.25004805G= | CA2420205941 | ARX | c.1554C= (p.Ala518=) | |
| X | g.25004805G>T | CA515748079 | ARX | c.1554C>A (p.Ala518=) | gnomAD v4 |
| X | g.25004806G>A | CA412610772 | ARX | c.1553C>T (p.Ala518Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25004806G>C | CA412610773 | ARX | c.1553C>G (p.Ala518Gly) | |
| X | g.25004806G= | CA2420205942 | ARX | c.1553C= (p.Ala518=) | |
| X | g.25004806G>T | CA412610774 | ARX | c.1553C>A (p.Ala518Asp) | gnomAD v4 |
| X | g.25004807C>A | CA412610775 | ARX | c.1552G>T (p.Ala518Ser) | gnomAD v4 |
| X | g.25004807C>G | CA412610776 | ARX | c.1552G>C (p.Ala518Pro) | |
| X | g.25004807C>T | CA412610777 | ARX | c.1552G>A (p.Ala518Thr) | gnomAD v4 |
| X | g.25004808del | CA2580100515 | ARX | c.1552del (p.Ala518ProfsTer15) | ClinVar |
| X | g.25004808C>A | CA515748081 | ARX | c.1551G>T (p.Leu517=) | gnomAD v4 |
| X | g.25004808C= | CA2420205943 | ARX | c.1551G= (p.Leu517=) | |
| X | g.25004808C>G | CA10373769 | ARX | c.1551G>C (p.Leu517=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25004808C>T | CA515748080 | ARX | c.1551G>A (p.Leu517=) | gnomAD v4 |
| X | g.25004809del | CA2820109497 | ARX | c.1550del (p.Leu517ArgfsTer16) | |
| X | g.25004809A>C | CA412610778 | ARX | c.1550T>G (p.Leu517Arg) | |
| X | g.25004809A>G | CA412610779 | ARX | c.1550T>C (p.Leu517Pro) | |
| X | g.25004809A>T | CA412610780 | ARX | c.1550T>A (p.Leu517Gln) | |
| X | g.25004809_25004824delinsAGGGCGCCCGATGCCA | CA2420205944 | ARX | c.1535_1550delinsTGGCATCGGGCGCCCT (p.Val512=) | |
| X | g.25004810G>A | CA515748082 | ARX | c.1549C>T (p.Leu517=) | gnomAD v4 |
| X | g.25004810G>C | CA412610781 | ARX | c.1549C>G (p.Leu517Val) | |
| X | g.25004810G>T | CA412610782 | ARX | c.1549C>A (p.Leu517Met) | gnomAD v4 |
| X | g.25004810_25004824delinsCTGCGCC | CA645373294 | ARX | c.1535_1549delinsGGCGCAG (p.Val512GlyfsTer17) | ClinVar dbSNP |
| X | g.25004811G>A | CA515748083 | ARX | c.1548C>T (p.Ala516=) | gnomAD v4 |
| X | g.25004811G>C | CA515748085 | ARX | c.1548C>G (p.Ala516=) | |
| X | g.25004811G>T | CA515748084 | ARX | c.1548C>A (p.Ala516=) | |
| X | g.25004812G>A | CA412610783 | ARX | c.1547C>T (p.Ala516Val) | |
| X | g.25004812G>C | CA412610784 | ARX | c.1547C>G (p.Ala516Gly) | |
| X | g.25004812G>T | CA412610785 | ARX | c.1547C>A (p.Ala516Asp) | |
| X | g.25004813C>A | CA10373770 | ARX | c.1546G>T (p.Ala516Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25004813C= | CA2420205945 | ARX | c.1546G= (p.Ala516=) | |
| X | g.25004813C>G | CA412610786 | ARX | c.1546G>C (p.Ala516Pro) | ClinVar dbSNP |
| X | g.25004813C>T | CA412610787 | ARX | c.1546G>A (p.Ala516Thr) | gnomAD v4 |
| X | g.25004814G>A | CA515748086 | ARX | c.1545C>T (p.Gly515=) | |
| X | g.25004814G>C | CA515748087 | ARX | c.1545C>G (p.Gly515=) | |
| X | g.25004814G>T | CA515748088 | ARX | c.1545C>A (p.Gly515=) | gnomAD v4 |
| X | g.25004814_25004815delinsGC | CA2420205946 | ARX | c.1544_1545delinsGC (p.Gly515=) | |
| X | g.25004815C>A | CA412610789 | ARX | c.1544G>T (p.Gly515Val) | |
| X | g.25004815C>G | CA412610790 | ARX | c.1544G>C (p.Gly515Ala) | |
| X | g.25004815C>T | CA412610788 | ARX | c.1544G>A (p.Gly515Asp) | gnomAD v4 |
| X | g.25004817del | CA171147 | ARX | c.1544del (p.Gly515AlafsTer18) | ClinVar dbSNP |
| X | g.25004816C>A | CA412610791 | ARX | c.1543G>T (p.Gly515Cys) | gnomAD v4 |
| X | g.25004816C= | CA2420205947 | ARX | c.1543G= (p.Gly515=) | |
| X | g.25004816C>G | CA412610792 | ARX | c.1543G>C (p.Gly515Arg) | |
| X | g.25004816C>T | CA412610793 | ARX | c.1543G>A (p.Gly515Ser) | dbSNP |
| X | g.25004817C>A | CA515748089 | ARX | c.1542G>T (p.Ser514=) | gnomAD v4 |
| X | g.25004817C= | CA2420205948 | ARX | c.1542G= (p.Ser514=) | |
| X | g.25004817C>G | CA515748090 | ARX | c.1542G>C (p.Ser514=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25004817C>T | CA515748091 | ARX | c.1542G>A (p.Ser514=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |