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.25004673G>A | CA515747731 | ARX | c.1686C>T (p.Cys562=) | |
| X | g.25004673G>C | CA412610487 | ARX | c.1686C>G (p.Cys562Trp) | |
| X | g.25004673G>T | CA412610488 | ARX | c.1686C>A (p.Cys562Ter) | |
| X | g.25004674C>A | CA412610489 | ARX | c.1685G>T (p.Cys562Phe) | |
| X | g.25004674C>G | CA412610490 | ARX | c.1685G>C (p.Cys562Ser) | |
| X | g.25004674C>T | CA412610491 | ARX | c.1685G>A (p.Cys562Tyr) | |
| X | g.25004675A= | CA2420205886 | ARX | c.1684T= (p.Cys562=) | |
| X | g.25004675A>C | CA412610492 | ARX | c.1684T>G (p.Cys562Gly) | |
| X | g.25004675A>G | CA412610493 | ARX | c.1684T>C (p.Cys562Arg) | ClinVar dbSNP |
| X | g.25004675A>T | CA412610494 | ARX | c.1684T>A (p.Cys562Ser) | |
| X | g.25004676C>A | CA515747736 | ARX | c.1683G>T (p.Val561=) | |
| X | g.25004676C>G | CA515747737 | ARX | c.1683G>C (p.Val561=) | |
| X | g.25004676C>T | CA515747738 | ARX | c.1683G>A (p.Val561=) | |
| 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) | 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) | |
| X | g.25004695G>T | CA412610539 | ARX | c.1664C>A (p.Thr555Asn) | gnomAD v4 |
| 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) | |
| 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 |
| X | g.25004716T>C | CA412610582 | ARX | c.1643A>G (p.Gln548Arg) | |
| X | g.25004716T>G | CA412610583 | ARX | c.1643A>C (p.Gln548Pro) | |
| 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) |