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.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.25004799dup | CA2839182178 | ARX | c.1561dup (p.Ala521GlyfsTer11)
| |
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.25004818_25004819insCAG | CA2842706011 | ARX | c.1541_1542insTGC (p.Ser514_Gly515insAla)
| |
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 |