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.25004734_25004841del | CA2558513964 | ARX | c.1521_1628del (p.Val508_Ala543del) | |
| X | g.25004738_25004766delinsCCTTGGCCTTGAGCCTCAGCGCGGCTATG | CA2420205904 | ARX | c.1593_1621delinsCATAGCCGCGCTGAGGCTCAAGGCCAAGG (p.Ser531=) | |
| X | g.25004741_25004768del | CA915950800 | ARX | c.1593_1620del (p.Ser531ArgfsTer?) | ClinVar dbSNP |
| 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 |
| X | g.25004818G>A | CA412610794 | ARX | c.1541C>T (p.Ser514Leu) | gnomAD v4 |
| X | g.25004818G>C | CA412610795 | ARX | c.1541C>G (p.Ser514Trp) | ClinVar dbSNP |
| X | g.25004818G= | CA2420205949 | ARX | c.1541C= (p.Ser514=) | |
| X | g.25004818G>T | CA412610796 | ARX | c.1541C>A (p.Ser514Ter) | COSMIC |
| X | g.25004819A= | CA2420205950 | ARX | c.1540T= (p.Ser514=) | |
| X | g.25004819A>C | CA412610797 | ARX | c.1540T>G (p.Ser514Ala) | |
| X | g.25004819A>G | CA412610798 | ARX | c.1540T>C (p.Ser514Pro) | gnomAD v4 |
| X | g.25004819A>T | CA412610799 | ARX | c.1540T>A (p.Ser514Thr) | dbSNP |
| X | g.25004820T>A | CA515748092 | ARX | c.1539A>T (p.Ala513=) | |
| X | g.25004820T>C | CA515748093 | ARX | c.1539A>G (p.Ala513=) | |
| X | g.25004820T>G | CA515748094 | ARX | c.1539A>C (p.Ala513=) | |
| X | g.25004821G>A | CA412610800 | ARX | c.1538C>T (p.Ala513Val) | |
| X | g.25004821G>C | CA412610801 | ARX | c.1538C>G (p.Ala513Gly) | |
| X | g.25004821G>T | CA412610802 | ARX | c.1538C>A (p.Ala513Glu) | |
| X | g.25004822C>A | CA412610805 | ARX | c.1537G>T (p.Ala513Ser) | gnomAD v4 |
| X | g.25004822C>G | CA412610803 | ARX | c.1537G>C (p.Ala513Pro) | |
| X | g.25004822C>T | CA412610804 | ARX | c.1537G>A (p.Ala513Thr) | gnomAD v4 |
| X | g.25004823C>A | CA515748095 | ARX | c.1536G>T (p.Val512=) | |
| X | g.25004823C>G | CA515748096 | ARX | c.1536G>C (p.Val512=) | |
| X | g.25004823C>T | CA515748097 | ARX | c.1536G>A (p.Val512=) | gnomAD v4 |
| X | g.25004824A>C | CA412610806 | ARX | c.1535T>G (p.Val512Gly) | |
| X | g.25004824A>G | CA412610807 | ARX | c.1535T>C (p.Val512Ala) | |
| X | g.25004824A>T | CA412610808 | ARX | c.1535T>A (p.Val512Glu) | |
| X | g.25004825C>A | CA412610809 | ARX | c.1534G>T (p.Val512Leu) | gnomAD v4 |
| X | g.25004825C= | CA2420205951 | ARX | c.1534G= (p.Val512=) | |
| X | g.25004825C>G | CA412610810 | ARX | c.1534G>C (p.Val512Leu) | dbSNP |
| X | g.25004825C>T | CA412610811 | ARX | c.1534G>A (p.Val512Met) | |
| X | g.25004826T>A | CA515748098 | ARX | c.1533A>T (p.Ala511=) | |
| X | g.25004826T>C | CA515748099 | ARX | c.1533A>G (p.Ala511=) | ClinVar dbSNP gnomAD v4 |
| X | g.25004826T>G | CA515748100 | ARX | c.1533A>C (p.Ala511=) | |
| X | g.25004826T= | CA2420205952 | ARX | c.1533A= (p.Ala511=) | |
| X | g.25004827G>A | CA412610812 | ARX | c.1532C>T (p.Ala511Val) | |
| X | g.25004827G>C | CA412610813 | ARX | c.1532C>G (p.Ala511Gly) | |
| X | g.25004827G>T | CA412610814 | ARX | c.1532C>A (p.Ala511Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.25004828C>A | CA412610815 | ARX | c.1531G>T (p.Ala511Ser) | dbSNP |
| X | g.25004828C= | CA2420205953 | ARX | c.1531G= (p.Ala511=) | |
| X | g.25004828C>G | CA412610816 | ARX | c.1531G>C (p.Ala511Pro) | |
| X | g.25004828C>T | CA412610817 | ARX | c.1531G>A (p.Ala511Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25004828dup | CA2740092064 | ARX | c.1531dup (p.Ala511GlyfsTer21) | ClinVar |
| X | g.25004829G>A | CA515748101 | ARX | c.1530C>T (p.Gly510=) | dbSNP gnomAD v4 |
| X | g.25004829G>C | CA515748102 | ARX | c.1530C>G (p.Gly510=) | |
| X | g.25004829G= | CA2420205954 | ARX | c.1530C= (p.Gly510=) | |
| X | g.25004829G>T | CA10373771 | ARX | c.1530C>A (p.Gly510=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25004830C>A | CA412610820 | ARX | c.1529G>T (p.Gly510Val) | gnomAD v4 |
| X | g.25004830C= | CA2420205955 | ARX | c.1529G= (p.Gly510=) | |
| X | g.25004830C>G | CA412610818 | ARX | c.1529G>C (p.Gly510Ala) | |
| X | g.25004830C>T | CA412610819 | ARX | c.1529G>A (p.Gly510Asp) | ClinVar dbSNP gnomAD v4 |
| X | g.25004831C>A | CA412610821 | ARX | c.1528G>T (p.Gly510Cys) | |
| X | g.25004831C= | CA2420205956 | ARX | c.1528G= (p.Gly510=) | |
| X | g.25004831C>G | CA412610822 | ARX | c.1528G>C (p.Gly510Arg) | |
| X | g.25004831C>T | CA327732408 | ARX | c.1528G>A (p.Gly510Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25004832C>A | CA412610823 | ARX | c.1527G>T (p.Glu509Asp) | |
| X | g.25004832C>G | CA412610824 | ARX | c.1527G>C (p.Glu509Asp) | |
| X | g.25004832C>T | CA515748103 | ARX | c.1527G>A (p.Glu509=) | |
| X | g.25004833T>A | CA412610825 | ARX | c.1526A>T (p.Glu509Val) | |
| X | g.25004833T>C | CA412610826 | ARX | c.1526A>G (p.Glu509Gly) | |
| X | g.25004833T>G | CA412610827 | ARX | c.1526A>C (p.Glu509Ala) | |
| X | g.25004833_25004839dup | CA2580100516 | ARX | c.1520_1526dup (p.Glu509AspfsTer25) | ClinVar |
| X | g.25004834C>A | CA412610828 | ARX | c.1525G>T (p.Glu509Ter) | gnomAD v4 |
| X | g.25004834C>G | CA412610829 | ARX | c.1525G>C (p.Glu509Gln) | |
| X | g.25004834C>T | CA412610830 | ARX | c.1525G>A (p.Glu509Lys) | gnomAD v4 |
| X | g.25004835C>A | CA515748104 | ARX | c.1524G>T (p.Val508=) | gnomAD v4 |
| X | g.25004835C= | CA2420205957 | ARX | c.1524G= (p.Val508=) | |
| X | g.25004835C>G | CA515748105 | ARX | c.1524G>C (p.Val508=) | |
| X | g.25004835C>T | CA327732409 | ARX | c.1524G>A (p.Val508=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25004836A= | CA2420205958 | ARX | c.1523T= (p.Val508=) | |
| X | g.25004836A>C | CA412610832 | ARX | c.1523T>G (p.Val508Gly) | |
| X | g.25004836A>G | CA327732410 | ARX | c.1523T>C (p.Val508Ala) | dbSNP |
| X | g.25004836A>T | CA412610831 | ARX | c.1523T>A (p.Val508Glu) | |
| X | g.25004837C>A | CA412610833 | ARX | c.1522G>T (p.Val508Leu) | gnomAD v4 |
| X | g.25004837C= | CA2420205959 | ARX | c.1522G= (p.Val508=) | |
| X | g.25004837C>G | CA412610834 | ARX | c.1522G>C (p.Val508Leu) | |
| X | g.25004837C>T | CA412610835 | ARX | c.1522G>A (p.Val508Met) | ClinVar dbSNP gnomAD v4 |
| X | g.25004838G>A | CA515748106 | ARX | c.1521C>T (p.Ala507=) | |
| X | g.25004838G>C | CA515748107 | ARX | c.1521C>G (p.Ala507=) | dbSNP |
| X | g.25004838G= | CA2420205960 | ARX | c.1521C= (p.Ala507=) | |
| X | g.25004838G>T | CA10373772 | ARX | c.1521C>A (p.Ala507=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25004839G>A | CA412610836 | ARX | c.1520C>T (p.Ala507Val) | gnomAD v4 |
| X | g.25004839G>C | CA412610837 | ARX | c.1520C>G (p.Ala507Gly) | |
| X | g.25004839G>T | CA412610838 | ARX | c.1520C>A (p.Ala507Asp) | gnomAD v4 |
| X | g.25004840C>A | CA412610839 | ARX | c.1519G>T (p.Ala507Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004840C= | CA2420205961 | ARX | c.1519G= (p.Ala507=) | |
| X | g.25004840C>G | CA412610840 | ARX | c.1519G>C (p.Ala507Pro) | |
| X | g.25004840C>T | CA412610841 | ARX | c.1519G>A (p.Ala507Thr) | gnomAD v4 |
| X | g.25004841G>A | CA515748108 | ARX | c.1518C>T (p.Pro506=) | gnomAD v4 |
| X | g.25004841G>C | CA515748109 | ARX | c.1518C>G (p.Pro506=) | ClinVar dbSNP |
| X | g.25004841G= | CA2420205962 | ARX | c.1518C= (p.Pro506=) | |
| X | g.25004841G>T | CA515748110 | ARX | c.1518C>A (p.Pro506=) | gnomAD v4 |
| X | g.25004842G>A | CA412610842 | ARX | c.1517C>T (p.Pro506Leu) | gnomAD v4 |
| X | g.25004842G>C | CA412610843 | ARX | c.1517C>G (p.Pro506Arg) | |
| X | g.25004842G>T | CA412610844 | ARX | c.1517C>A (p.Pro506His) | gnomAD v4 |
| X | g.25004843G>A | CA412610846 | ARX | c.1516C>T (p.Pro506Ser) | |
| X | g.25004843G>C | CA412610847 | ARX | c.1516C>G (p.Pro506Ala) | dbSNP gnomAD v2 |
| X | g.25004843G= | CA2420205963 | ARX | c.1516C= (p.Pro506=) | |
| X | g.25004843G>T | CA412610845 | ARX | c.1516C>A (p.Pro506Thr) | gnomAD v4 |
| X | g.25004844T>A | CA515748111 | ARX | c.1515A>T (p.Thr505=) | |
| X | g.25004844T>C | CA10373773 | ARX | c.1515A>G (p.Thr505=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25004844T>G | CA224123 | ARX | c.1515A>C (p.Thr505=) | ClinVar dbSNP gnomAD v4 |
| X | g.25004844T= | CA2420205964 | ARX | c.1515A= (p.Thr505=) | |
| X | g.25004845G>A | CA412610848 | ARX | c.1514C>T (p.Thr505Ile) | |
| X | g.25004845G>C | CA412610849 | ARX | c.1514C>G (p.Thr505Arg) | |
| X | g.25004845G>T | CA412610850 | ARX | c.1514C>A (p.Thr505Lys) | |
| X | g.25004846T>A | CA412610851 | ARX | c.1513A>T (p.Thr505Ser) | |
| X | g.25004846T>C | CA412610852 | ARX | c.1513A>G (p.Thr505Ala) | dbSNP |
| X | g.25004846T>G | CA412610853 | ARX | c.1513A>C (p.Thr505Pro) | |
| X | g.25004846T= | CA2420205965 | ARX | c.1513A= (p.Thr505=) | |
| X | g.25004847G>A | CA515748114 | ARX | c.1512C>T (p.Pro504=) | gnomAD v4 |
| X | g.25004847G>C | CA515748112 | ARX | c.1512C>G (p.Pro504=) | |
| X | g.25004847G>T | CA515748113 | ARX | c.1512C>A (p.Pro504=) | gnomAD v4 |
| X | g.25004848G>A | CA412610854 | ARX | c.1511C>T (p.Pro504Leu) | |
| X | g.25004848G>C | CA412610855 | ARX | c.1511C>G (p.Pro504Arg) | |
| X | g.25004848G>T | CA412610856 | ARX | c.1511C>A (p.Pro504His) | gnomAD v4 |
| X | g.25004849G>A | CA412610859 | ARX | c.1510C>T (p.Pro504Ser) | gnomAD v4 |
| X | g.25004849G>C | CA412610858 | ARX | c.1510C>G (p.Pro504Ala) | |
| X | g.25004849G>T | CA412610857 | ARX | c.1510C>A (p.Pro504Thr) | gnomAD v4 |
| X | g.25004850C>A | CA412610860 | ARX | c.1509G>T (p.Gln503His) | |
| X | g.25004850C>G | CA412610861 | ARX | c.1509G>C (p.Gln503His) | |
| X | g.25004850C>T | CA515748115 | ARX | c.1509G>A (p.Gln503=) | |
| X | g.25004851T>A | CA412610862 | ARX | c.1508A>T (p.Gln503Leu) | |
| X | g.25004851T>C | CA412610863 | ARX | c.1508A>G (p.Gln503Arg) | |
| X | g.25004851T>G | CA412610864 | ARX | c.1508A>C (p.Gln503Pro) | |
| X | g.25004852_25004853del | CA2695233368 | ARX | c.1507_1508del (p.Gln503AlafsTer28) | |
| X | g.25004852G>A | CA412610865 | ARX | c.1507C>T (p.Gln503Ter) | |
| X | g.25004852G>C | CA412610866 | ARX | c.1507C>G (p.Gln503Glu) | gnomAD v4 |
| X | g.25004852G>T | CA412610867 | ARX | c.1507C>A (p.Gln503Lys) | gnomAD v4 |
| X | g.25004853T>A | CA412610868 | ARX | c.1506A>T (p.Arg502Ser) | |
| X | g.25004853T>C | CA515748116 | ARX | c.1506A>G (p.Arg502=) | |
| X | g.25004853T>G | CA412610869 | ARX | c.1506A>C (p.Arg502Ser) | |
| X | g.25004854C>A | CA412610870 | ARX | c.1505G>T (p.Arg502Ile) | gnomAD v4 |
| X | g.25004854C= | CA2420205966 | ARX | c.1505G= (p.Arg502=) | |
| X | g.25004854C>G | CA412610871 | ARX | c.1505G>C (p.Arg502Thr) | |
| X | g.25004854C>T | CA412610872 | ARX | c.1505G>A (p.Arg502Lys) | dbSNP gnomAD v2 COSMIC |
| X | g.25004855T>A | CA412610874 | ARX | c.1504A>T (p.Arg502Ter) | gnomAD v4 |
| X | g.25004855T>C | CA412610873 | ARX | c.1504A>G (p.Arg502Gly) | gnomAD v4 |
| X | g.25004855T>G | CA515748117 | ARX | c.1504A>C (p.Arg502=) | |
| X | g.25004856C>A | CA515748120 | ARX | c.1503G>T (p.Leu501=) | gnomAD v4 |
| X | g.25004856C>G | CA515748118 | ARX | c.1503G>C (p.Leu501=) | gnomAD v4 |
| X | g.25004856C>T | CA515748119 | ARX | c.1503G>A (p.Leu501=) | ClinVar dbSNP |