| 14 | g.100883181G>A | CA488181514 | RTL1 | c.1608C>T (p.Arg536=)
| gnomAD v4 |
| 14 | g.100883181G>C | CA488181518 | RTL1 | c.1608C>G (p.Arg536=)
| |
| 14 | g.100883181G>T | CA488181517 | RTL1 | c.1608C>A (p.Arg536=)
| |
| 14 | g.100883182C>A | CA390995804 | RTL1 | c.1607G>T (p.Arg536Leu)
| gnomAD v4 |
| 14 | g.100883182C= | CA2159074951 | RTL1 | c.1607G= (p.Arg536=)
| |
| 14 | g.100883182C>G | CA390995805 | RTL1 | c.1607G>C (p.Arg536Pro)
| dbSNP |
| 14 | g.100883182C>T | CA390995806 | RTL1 | c.1607G>A (p.Arg536His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883183G>A | CA7347301 | RTL1 | c.1606C>T (p.Arg536Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.100883183G>C | CA390995807 | RTL1 | c.1606C>G (p.Arg536Gly)
| |
| 14 | g.100883183G= | CA2159074952 | RTL1 | c.1606C= (p.Arg536=)
| |
| 14 | g.100883183G>T | CA390995808 | RTL1 | c.1606C>A (p.Arg536Ser)
| |
| 14 | g.100883184G>A | CA488181524 | RTL1 | c.1605C>T (p.Phe535=)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883184G>C | CA390995809 | RTL1 | c.1605C>G (p.Phe535Leu)
| |
| 14 | g.100883184G= | CA2159074954 | RTL1 | c.1605C= (p.Phe535=)
| |
| 14 | g.100883184G>T | CA390995810 | RTL1 | c.1605C>A (p.Phe535Leu)
| |
| 14 | g.100883185A= | CA2159074955 | RTL1 | c.1604T= (p.Phe535=)
| |
| 14 | g.100883185A>C | CA390995811 | RTL1 | c.1604T>G (p.Phe535Cys)
| |
| 14 | g.100883185A>G | CA390995812 | RTL1 | c.1604T>C (p.Phe535Ser)
| dbSNP |
| 14 | g.100883185A>T | CA390995813 | RTL1 | c.1604T>A (p.Phe535Tyr)
| |
| 14 | g.100883186A>C | CA390995814 | RTL1 | c.1603T>G (p.Phe535Val)
| COSMIC |
| 14 | g.100883186A>G | CA390995815 | RTL1 | c.1603T>C (p.Phe535Leu)
| |
| 14 | g.100883186A>T | CA390995816 | RTL1 | c.1603T>A (p.Phe535Ile)
| |
| 14 | g.100883187G>A | CA488181539 | RTL1 | c.1602C>T (p.Cys534=)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883187G>C | CA390995817 | RTL1 | c.1602C>G (p.Cys534Trp)
| |
| 14 | g.100883187G= | CA2159074957 | RTL1 | c.1602C= (p.Cys534=)
| |
| 14 | g.100883187G>T | CA390995818 | RTL1 | c.1602C>A (p.Cys534Ter)
| |
| 14 | g.100883188C>A | CA390995819 | RTL1 | c.1601G>T (p.Cys534Phe)
| |
| 14 | g.100883188C>G | CA390995820 | RTL1 | c.1601G>C (p.Cys534Ser)
| |
| 14 | g.100883188C>T | CA390995821 | RTL1 | c.1601G>A (p.Cys534Tyr)
| |
| 14 | g.100883189A= | CA2159074962 | RTL1 | c.1600T= (p.Cys534=)
| |
| 14 | g.100883189A>C | CA390995822 | RTL1 | c.1600T>G (p.Cys534Gly)
| |
| 14 | g.100883189A>G | CA390995824 | RTL1 | c.1600T>C (p.Cys534Arg)
| dbSNP |
| 14 | g.100883189A>T | CA390995823 | RTL1 | c.1600T>A (p.Cys534Ser)
| |
| 14 | g.100883190G>A | CA488181547 | RTL1 | c.1599C>T (p.Asn533=)
| |
| 14 | g.100883190G>C | CA390995825 | RTL1 | c.1599C>G (p.Asn533Lys)
| |
| 14 | g.100883190G>T | CA390995826 | RTL1 | c.1599C>A (p.Asn533Lys)
| |
| 14 | g.100883191T>A | CA390995827 | RTL1 | c.1598A>T (p.Asn533Ile)
| |
| 14 | g.100883191T>C | CA390995828 | RTL1 | c.1598A>G (p.Asn533Ser)
| gnomAD v4 |
| 14 | g.100883191T>G | CA390995829 | RTL1 | c.1598A>C (p.Asn533Thr)
| |
| 14 | g.100883192T>A | CA390995830 | RTL1 | c.1597A>T (p.Asn533Tyr)
| |
| 14 | g.100883192T>C | CA390995831 | RTL1 | c.1597A>G (p.Asn533Asp)
| |
| 14 | g.100883192T>G | CA390995832 | RTL1 | c.1597A>C (p.Asn533His)
| |
| 14 | g.100883193C>A | CA390995833 | RTL1 | c.1596G>T (p.Lys532Asn)
| |
| 14 | g.100883193C>G | CA390995834 | RTL1 | c.1596G>C (p.Lys532Asn)
| |
| 14 | g.100883193C>T | CA488181550 | RTL1 | c.1596G>A (p.Lys532=)
| |
| 14 | g.100883194T>A | CA390995835 | RTL1 | c.1595A>T (p.Lys532Met)
| |
| 14 | g.100883194T>C | CA390995836 | RTL1 | c.1595A>G (p.Lys532Arg)
| |
| 14 | g.100883194T>G | CA390995837 | RTL1 | c.1595A>C (p.Lys532Thr)
| |
| 14 | g.100883195T>A | CA390995840 | RTL1 | c.1594A>T (p.Lys532Ter)
| |
| 14 | g.100883195T>C | CA390995838 | RTL1 | c.1594A>G (p.Lys532Glu)
| |
| 14 | g.100883195T>G | CA390995839 | RTL1 | c.1594A>C (p.Lys532Gln)
| |
| 14 | g.100883196C>A | CA488181562 | RTL1 | c.1593G>T (p.Leu531=)
| |
| 14 | g.100883196C= | CA2159074966 | RTL1 | c.1593G= (p.Leu531=)
| |
| 14 | g.100883196C>G | CA488181563 | RTL1 | c.1593G>C (p.Leu531=)
| |
| 14 | g.100883196C>T | CA488181564 | RTL1 | c.1593G>A (p.Leu531=)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883197A= | CA2159074968 | RTL1 | c.1592T= (p.Leu531=)
| |
| 14 | g.100883197A>C | CA390995841 | RTL1 | c.1592T>G (p.Leu531Arg)
| |
| 14 | g.100883197A>G | CA390995842 | RTL1 | c.1592T>C (p.Leu531Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883197A>T | CA390995843 | RTL1 | c.1592T>A (p.Leu531Gln)
| |
| 14 | g.100883198G>A | CA488181576 | RTL1 | c.1591C>T (p.Leu531=)
| |
| 14 | g.100883198G>C | CA390995844 | RTL1 | c.1591C>G (p.Leu531Val)
| |
| 14 | g.100883198G>T | CA390995845 | RTL1 | c.1591C>A (p.Leu531Met)
| |
| 14 | g.100883199G>A | CA7347302 | RTL1 | c.1590C>T (p.Cys530=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883199G>C | CA390995846 | RTL1 | c.1590C>G (p.Cys530Trp)
| |
| 14 | g.100883199G= | CA2159074970 | RTL1 | c.1590C= (p.Cys530=)
| |
| 14 | g.100883199G>T | CA390995847 | RTL1 | c.1590C>A (p.Cys530Ter)
| |
| 14 | g.100883200C>A | CA390995848 | RTL1 | c.1589G>T (p.Cys530Phe)
| |
| 14 | g.100883200C= | CA2159074977 | RTL1 | c.1589G= (p.Cys530=)
| |
| 14 | g.100883200C>G | CA390995849 | RTL1 | c.1589G>C (p.Cys530Ser)
| |
| 14 | g.100883200C>T | CA390995850 | RTL1 | c.1589G>A (p.Cys530Tyr)
| |
| 14 | g.100883201A>C | CA390995851 | RTL1 | c.1588T>G (p.Cys530Gly)
| |
| 14 | g.100883201A>G | CA390995853 | RTL1 | c.1588T>C (p.Cys530Arg)
| |
| 14 | g.100883201A>T | CA390995852 | RTL1 | c.1588T>A (p.Cys530Ser)
| |
| 14 | g.100883201_100883204dup | CA2159074979 | RTL1 | c.1585_1588dup (p.Cys530LeufsTer?)
| dbSNP gnomAD v4 |
| 14 | g.100883202G>A | CA488181583 | RTL1 | c.1587C>T (p.Tyr529=)
| dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883202G>C | CA390995854 | RTL1 | c.1587C>G (p.Tyr529Ter)
| |
| 14 | g.100883202G= | CA2159074980 | RTL1 | c.1587C= (p.Tyr529=)
| |
| 14 | g.100883202G>T | CA390995855 | RTL1 | c.1587C>A (p.Tyr529Ter)
| |
| 14 | g.100883203T>A | CA390995856 | RTL1 | c.1586A>T (p.Tyr529Phe)
| |
| 14 | g.100883203T>C | CA7347303 | RTL1 | c.1586A>G (p.Tyr529Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100883203T>G | CA390995857 | RTL1 | c.1586A>C (p.Tyr529Ser)
| |
| 14 | g.100883203T= | CA2159074982 | RTL1 | c.1586A= (p.Tyr529=)
| |
| 14 | g.100883204A>C | CA390995858 | RTL1 | c.1585T>G (p.Tyr529Asp)
| |
| 14 | g.100883204A>G | CA390995859 | RTL1 | c.1585T>C (p.Tyr529His)
| |
| 14 | g.100883204A>T | CA390995860 | RTL1 | c.1585T>A (p.Tyr529Asn)
| |
| 14 | g.100883205G>A | CA488181590 | RTL1 | c.1584C>T (p.Pro528=)
| |
| 14 | g.100883205G>C | CA488181591 | RTL1 | c.1584C>G (p.Pro528=)
| |
| 14 | g.100883205G>T | CA488181592 | RTL1 | c.1584C>A (p.Pro528=)
| |
| 14 | g.100883206G>A | CA390995861 | RTL1 | c.1583C>T (p.Pro528Leu)
| |
| 14 | g.100883206G>C | CA390995862 | RTL1 | c.1583C>G (p.Pro528Arg)
| |
| 14 | g.100883206G>T | CA390995863 | RTL1 | c.1583C>A (p.Pro528His)
| |
| 14 | g.100883207G>A | CA390995864 | RTL1 | c.1582C>T (p.Pro528Ser)
| |
| 14 | g.100883207G>C | CA390995865 | RTL1 | c.1582C>G (p.Pro528Ala)
| |
| 14 | g.100883207G>T | CA390995866 | RTL1 | c.1582C>A (p.Pro528Thr)
| |
| 14 | g.100883208A>C | CA488181599 | RTL1 | c.1581T>G (p.Ser527=)
| |
| 14 | g.100883208A>G | CA488181602 | RTL1 | c.1581T>C (p.Ser527=)
| gnomAD v4 |
| 14 | g.100883208A>T | CA488181609 | RTL1 | c.1581T>A (p.Ser527=)
| |
| 14 | g.100883209G>A | CA390995867 | RTL1 | c.1580C>T (p.Ser527Phe)
| |
| 14 | g.100883209G>C | CA390995868 | RTL1 | c.1580C>G (p.Ser527Cys)
| |
| 14 | g.100883209G>T | CA390995869 | RTL1 | c.1580C>A (p.Ser527Tyr)
| |
| 14 | g.100883210A>C | CA390995870 | RTL1 | c.1579T>G (p.Ser527Ala)
| |
| 14 | g.100883210A>G | CA390995872 | RTL1 | c.1579T>C (p.Ser527Pro)
| |
| 14 | g.100883210A>T | CA390995871 | RTL1 | c.1579T>A (p.Ser527Thr)
| |
| 14 | g.100883211G>A | CA488181614 | RTL1 | c.1578C>T (p.His526=)
| dbSNP gnomAD v2 |
| 14 | g.100883211G>C | CA266905432 | RTL1 | c.1578C>G (p.His526Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883211G= | CA2159074988 | RTL1 | c.1578C= (p.His526=)
| |
| 14 | g.100883211G>T | CA390995873 | RTL1 | c.1578C>A (p.His526Gln)
| |
| 14 | g.100883212T>A | CA390995874 | RTL1 | c.1577A>T (p.His526Leu)
| |
| 14 | g.100883212T>C | CA390995875 | RTL1 | c.1577A>G (p.His526Arg)
| |
| 14 | g.100883212T>G | CA390995876 | RTL1 | c.1577A>C (p.His526Pro)
| gnomAD v3 gnomAD v4 |
| 14 | g.100883213G>A | CA390995877 | RTL1 | c.1576C>T (p.His526Tyr)
| |
| 14 | g.100883213G>C | CA390995878 | RTL1 | c.1576C>G (p.His526Asp)
| |
| 14 | g.100883213G= | CA2159074990 | RTL1 | c.1576C= (p.His526=)
| |
| 14 | g.100883213G>T | CA7347304 | RTL1 | c.1576C>A (p.His526Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883214G>A | CA488181625 | RTL1 | c.1575C>T (p.Phe525=)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883214G>C | CA390995879 | RTL1 | c.1575C>G (p.Phe525Leu)
| |
| 14 | g.100883214G= | CA2159074992 | RTL1 | c.1575C= (p.Phe525=)
| |
| 14 | g.100883214G>T | CA390995880 | RTL1 | c.1575C>A (p.Phe525Leu)
| |
| 14 | g.100883215A>C | CA390995882 | RTL1 | c.1574T>G (p.Phe525Cys)
| |
| 14 | g.100883215A>G | CA390995883 | RTL1 | c.1574T>C (p.Phe525Ser)
| |
| 14 | g.100883215A>T | CA390995881 | RTL1 | c.1574T>A (p.Phe525Tyr)
| |
| 14 | g.100883216A>C | CA390995884 | RTL1 | c.1573T>G (p.Phe525Val)
| |
| 14 | g.100883216A>G | CA390995885 | RTL1 | c.1573T>C (p.Phe525Leu)
| |
| 14 | g.100883216A>T | CA390995886 | RTL1 | c.1573T>A (p.Phe525Ile)
| |
| 14 | g.100883217G>A | CA488181630 | RTL1 | c.1572C>T (p.Thr524=)
| gnomAD v4 |
| 14 | g.100883217G>C | CA488181631 | RTL1 | c.1572C>G (p.Thr524=)
| |
| 14 | g.100883217G>T | CA488181633 | RTL1 | c.1572C>A (p.Thr524=)
| |
| 14 | g.100883218G>A | CA7347305 | RTL1 | c.1571C>T (p.Thr524Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883218G>C | CA390995887 | RTL1 | c.1571C>G (p.Thr524Ser)
| |
| 14 | g.100883218G= | CA2159074997 | RTL1 | c.1571C= (p.Thr524=)
| |
| 14 | g.100883218G>T | CA390995888 | RTL1 | c.1571C>A (p.Thr524Asn)
| |
| 14 | g.100883219T>A | CA390995890 | RTL1 | c.1570A>T (p.Thr524Ser)
| |
| 14 | g.100883219T>C | CA390995889 | RTL1 | c.1570A>G (p.Thr524Ala)
| |
| 14 | g.100883219T>G | CA7347306 | RTL1 | c.1570A>C (p.Thr524Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100883219T= | CA2159075001 | RTL1 | c.1570A= (p.Thr524=)
| |
| 14 | g.100883220G>A | CA488181637 | RTL1 | c.1569C>T (p.Cys523=)
| |
| 14 | g.100883220G>C | CA390995891 | RTL1 | c.1569C>G (p.Cys523Trp)
| |
| 14 | g.100883220G= | CA2159075004 | RTL1 | c.1569C= (p.Cys523=)
| |
| 14 | g.100883220G>T | CA390995892 | RTL1 | c.1569C>A (p.Cys523Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883221C>A | CA390995893 | RTL1 | c.1568G>T (p.Cys523Phe)
| |
| 14 | g.100883221C= | CA2159075005 | RTL1 | c.1568G= (p.Cys523=)
| |
| 14 | g.100883221C>G | CA390995894 | RTL1 | c.1568G>C (p.Cys523Ser)
| |
| 14 | g.100883221C>T | CA390995895 | RTL1 | c.1568G>A (p.Cys523Tyr)
| |
| 14 | g.100883222A>C | CA390995896 | RTL1 | c.1567T>G (p.Cys523Gly)
| |
| 14 | g.100883222A>G | CA390995898 | RTL1 | c.1567T>C (p.Cys523Arg)
| |
| 14 | g.100883222A>T | CA390995897 | RTL1 | c.1567T>A (p.Cys523Ser)
| |
| 14 | g.100883222_100883225dup | CA616579501 | RTL1 | c.1564_1567dup (p.Cys523SerfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883223G>A | CA488181647 | RTL1 | c.1566C>T (p.Arg522=)
| |
| 14 | g.100883223G>C | CA488181652 | RTL1 | c.1566C>G (p.Arg522=)
| |
| 14 | g.100883223G>T | CA488181645 | RTL1 | c.1566C>A (p.Arg522=)
| |
| 14 | g.100883224C>A | CA390995899 | RTL1 | c.1565G>T (p.Arg522Leu)
| gnomAD v4 |
| 14 | g.100883224C= | CA2159075010 | RTL1 | c.1565G= (p.Arg522=)
| |
| 14 | g.100883224C>G | CA390995900 | RTL1 | c.1565G>C (p.Arg522Pro)
| |
| 14 | g.100883224C>T | CA390995901 | RTL1 | c.1565G>A (p.Arg522His)
| dbSNP gnomAD v4 |
| 14 | g.100883225G>A | CA390995902 | RTL1 | c.1564C>T (p.Arg522Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883225G>C | CA390995903 | RTL1 | c.1564C>G (p.Arg522Gly)
| |
| 14 | g.100883225G= | CA2159075011 | RTL1 | c.1564C= (p.Arg522=)
| |
| 14 | g.100883225G>T | CA390995904 | RTL1 | c.1564C>A (p.Arg522Ser)
| |
| 14 | g.100883226G>A | CA488181660 | RTL1 | c.1563C>T (p.Gly521=)
| gnomAD v4 |
| 14 | g.100883226G>C | CA488181661 | RTL1 | c.1563C>G (p.Gly521=)
| |
| 14 | g.100883226G>T | CA488181662 | RTL1 | c.1563C>A (p.Gly521=)
| |
| 14 | g.100883227C>A | CA390995905 | RTL1 | c.1562G>T (p.Gly521Val)
| |
| 14 | g.100883227C>G | CA390995906 | RTL1 | c.1562G>C (p.Gly521Ala)
| |
| 14 | g.100883227C>T | CA390995907 | RTL1 | c.1562G>A (p.Gly521Asp)
| gnomAD v4 |
| 14 | g.100883228C>A | CA390995908 | RTL1 | c.1561G>T (p.Gly521Cys)
| |
| 14 | g.100883228C>G | CA390995909 | RTL1 | c.1561G>C (p.Gly521Arg)
| |
| 14 | g.100883228C>T | CA390995910 | RTL1 | c.1561G>A (p.Gly521Ser)
| gnomAD v4 |
| 14 | g.100883229T>A | CA390995911 | RTL1 | c.1560A>T (p.Lys520Asn)
| |
| 14 | g.100883229T>C | CA488181676 | RTL1 | c.1560A>G (p.Lys520=)
| |
| 14 | g.100883229T>G | CA390995912 | RTL1 | c.1560A>C (p.Lys520Asn)
| |
| 14 | g.100883230T>A | CA390995913 | RTL1 | c.1559A>T (p.Lys520Ile)
| |
| 14 | g.100883230T>C | CA390995914 | RTL1 | c.1559A>G (p.Lys520Arg)
| |
| 14 | g.100883230T>G | CA390995915 | RTL1 | c.1559A>C (p.Lys520Thr)
| |
| 14 | g.100883231T>A | CA390995916 | RTL1 | c.1558A>T (p.Lys520Ter)
| |
| 14 | g.100883231T>C | CA390995917 | RTL1 | c.1558A>G (p.Lys520Glu)
| |
| 14 | g.100883231T>G | CA390995918 | RTL1 | c.1558A>C (p.Lys520Gln)
| |
| 14 | g.100883232G>A | CA488181696 | RTL1 | c.1557C>T (p.Ile519=)
| |
| 14 | g.100883232G>C | CA390995919 | RTL1 | c.1557C>G (p.Ile519Met)
| |
| 14 | g.100883232G>T | CA488181697 | RTL1 | c.1557C>A (p.Ile519=)
| |
| 14 | g.100883233A>C | CA390995920 | RTL1 | c.1556T>G (p.Ile519Ser)
| |
| 14 | g.100883233A>G | CA390995921 | RTL1 | c.1556T>C (p.Ile519Thr)
| |
| 14 | g.100883233A>T | CA390995922 | RTL1 | c.1556T>A (p.Ile519Asn)
| |
| 14 | g.100883234T>A | CA390995923 | RTL1 | c.1555A>T (p.Ile519Phe)
| |
| 14 | g.100883234T>C | CA390995924 | RTL1 | c.1555A>G (p.Ile519Val)
| |
| 14 | g.100883234T>G | CA390995925 | RTL1 | c.1555A>C (p.Ile519Leu)
| |
| 14 | g.100883235C>A | CA390995928 | RTL1 | c.1554G>T (p.Trp518Cys)
| |
| 14 | g.100883235C>G | CA390995927 | RTL1 | c.1554G>C (p.Trp518Cys)
| |
| 14 | g.100883235C>T | CA390995926 | RTL1 | c.1554G>A (p.Trp518Ter)
| gnomAD v4 |
| 14 | g.100883236del | CA2626553500 | RTL1 | c.1554del (p.Trp518Ter)
| gnomAD v4 |
| 14 | g.100883236C>A | CA390995929 | RTL1 | c.1553G>T (p.Trp518Leu)
| |
| 14 | g.100883236C>G | CA390995930 | RTL1 | c.1553G>C (p.Trp518Ser)
| |
| 14 | g.100883236C>T | CA390995931 | RTL1 | c.1553G>A (p.Trp518Ter)
| |
| 14 | g.100883237A>C | CA390995932 | RTL1 | c.1552T>G (p.Trp518Gly)
| |
| 14 | g.100883237A>G | CA390995933 | RTL1 | c.1552T>C (p.Trp518Arg)
| gnomAD v4 |
| 14 | g.100883237A>T | CA390995934 | RTL1 | c.1552T>A (p.Trp518Arg)
| |
| 14 | g.100883238G>A | CA488181706 | RTL1 | c.1551C>T (p.Asp517=)
| |
| 14 | g.100883238G>C | CA390995935 | RTL1 | c.1551C>G (p.Asp517Glu)
| |
| 14 | g.100883238G>T | CA390995936 | RTL1 | c.1551C>A (p.Asp517Glu)
| |
| 14 | g.100883239T>A | CA390995937 | RTL1 | c.1550A>T (p.Asp517Val)
| |
| 14 | g.100883239T>C | CA390995938 | RTL1 | c.1550A>G (p.Asp517Gly)
| gnomAD v4 COSMIC |
| 14 | g.100883239T>G | CA390995939 | RTL1 | c.1550A>C (p.Asp517Ala)
| |
| 14 | g.100883240C>A | CA390995940 | RTL1 | c.1549G>T (p.Asp517Tyr)
| gnomAD v4 COSMIC |
| 14 | g.100883240C= | CA2159075012 | RTL1 | c.1549G= (p.Asp517=)
| |
| 14 | g.100883240C>G | CA390995941 | RTL1 | c.1549G>C (p.Asp517His)
| |
| 14 | g.100883240C>T | CA7347307 | RTL1 | c.1549G>A (p.Asp517Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100883241G>A | CA488181716 | RTL1 | c.1548C>T (p.Val516=)
| gnomAD v4 COSMIC |
| 14 | g.100883241G>C | CA488181720 | RTL1 | c.1548C>G (p.Val516=)
| |
| 14 | g.100883241G>T | CA488181722 | RTL1 | c.1548C>A (p.Val516=)
| |
| 14 | g.100883242A>C | CA390995943 | RTL1 | c.1547T>G (p.Val516Gly)
| |
| 14 | g.100883242A>G | CA390995944 | RTL1 | c.1547T>C (p.Val516Ala)
| |
| 14 | g.100883242A>T | CA390995942 | RTL1 | c.1547T>A (p.Val516Asp)
| |
| 14 | g.100883243C>A | CA390995945 | RTL1 | c.1546G>T (p.Val516Phe)
| |
| 14 | g.100883243C>G | CA390995946 | RTL1 | c.1546G>C (p.Val516Leu)
| |
| 14 | g.100883243C>T | CA390995947 | RTL1 | c.1546G>A (p.Val516Ile)
| |
| 14 | g.100883244T>A | CA390995948 | RTL1 | c.1545A>T (p.Glu515Asp)
| |
| 14 | g.100883244T>C | CA488181734 | RTL1 | c.1545A>G (p.Glu515=)
| gnomAD v4 |
| 14 | g.100883244T>G | CA390995949 | RTL1 | c.1545A>C (p.Glu515Asp)
| gnomAD v4 |
| 14 | g.100883245T>A | CA390995950 | RTL1 | c.1544A>T (p.Glu515Val)
| |
| 14 | g.100883245T>C | CA390995951 | RTL1 | c.1544A>G (p.Glu515Gly)
| |
| 14 | g.100883245T>G | CA390995952 | RTL1 | c.1544A>C (p.Glu515Ala)
| |
| 14 | g.100883246C>A | CA390995953 | RTL1 | c.1543G>T (p.Glu515Ter)
| gnomAD v4 |
| 14 | g.100883246C= | CA2159075013 | RTL1 | c.1543G= (p.Glu515=)
| |
| 14 | g.100883246C>G | CA390995954 | RTL1 | c.1543G>C (p.Glu515Gln)
| |
| 14 | g.100883246C>T | CA266905462 | RTL1 | c.1543G>A (p.Glu515Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.100883247G>A | CA488181751 | RTL1 | c.1542C>T (p.Pro514=)
| dbSNP gnomAD v4 |
| 14 | g.100883247G>C | CA488181746 | RTL1 | c.1542C>G (p.Pro514=)
| |
| 14 | g.100883247G= | CA2159075014 | RTL1 | c.1542C= (p.Pro514=)
| |
| 14 | g.100883247G>T | CA488181744 | RTL1 | c.1542C>A (p.Pro514=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883248G>A | CA390995957 | RTL1 | c.1541C>T (p.Pro514Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883248G>C | CA390995956 | RTL1 | c.1541C>G (p.Pro514Arg)
| gnomAD v4 |
| 14 | g.100883248G= | CA2159075015 | RTL1 | c.1541C= (p.Pro514=)
| |
| 14 | g.100883248G>T | CA390995955 | RTL1 | c.1541C>A (p.Pro514His)
| |
| 14 | g.100883249G>A | CA390995958 | RTL1 | c.1540C>T (p.Pro514Ser)
| |
| 14 | g.100883249G>C | CA390995959 | RTL1 | c.1540C>G (p.Pro514Ala)
| |
| 14 | g.100883249G>T | CA390995960 | RTL1 | c.1540C>A (p.Pro514Thr)
| |
| 14 | g.100883250G>A | CA7347308 | RTL1 | c.1539C>T (p.Ala513=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883250G>C | CA488181766 | RTL1 | c.1539C>G (p.Ala513=)
| gnomAD v4 |
| 14 | g.100883250G= | CA2159075016 | RTL1 | c.1539C= (p.Ala513=)
| |
| 14 | g.100883250G>T | CA488181764 | RTL1 | c.1539C>A (p.Ala513=)
| |
| 14 | g.100883251G>A | CA390995961 | RTL1 | c.1538C>T (p.Ala513Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883251G>C | CA390995962 | RTL1 | c.1538C>G (p.Ala513Gly)
| |
| 14 | g.100883251G= | CA2159075017 | RTL1 | c.1538C= (p.Ala513=)
| |
| 14 | g.100883251G>T | CA390995963 | RTL1 | c.1538C>A (p.Ala513Asp)
| |
| 14 | g.100883252C>A | CA390995964 | RTL1 | c.1537G>T (p.Ala513Ser)
| gnomAD v4 |
| 14 | g.100883252C= | CA2159075018 | RTL1 | c.1537G= (p.Ala513=)
| |
| 14 | g.100883252C>G | CA390995965 | RTL1 | c.1537G>C (p.Ala513Pro)
| |
| 14 | g.100883252C>T | CA390995966 | RTL1 | c.1537G>A (p.Ala513Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883253G>A | CA488181774 | RTL1 | c.1536C>T (p.His512=)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883253G>C | CA390995967 | RTL1 | c.1536C>G (p.His512Gln)
| |
| 14 | g.100883253G= | CA2159075019 | RTL1 | c.1536C= (p.His512=)
| |
| 14 | g.100883253G>T | CA390995968 | RTL1 | c.1536C>A (p.His512Gln)
| |
| 14 | g.100883254T>A | CA390995971 | RTL1 | c.1535A>T (p.His512Leu)
| |
| 14 | g.100883254T>C | CA390995970 | RTL1 | c.1535A>G (p.His512Arg)
| |
| 14 | g.100883254T>G | CA390995969 | RTL1 | c.1535A>C (p.His512Pro)
| |
| 14 | g.100883255G>A | CA390995972 | RTL1 | c.1534C>T (p.His512Tyr)
| |
| 14 | g.100883255G>C | CA390995974 | RTL1 | c.1534C>G (p.His512Asp)
| gnomAD v4 |
| 14 | g.100883255G>T | CA390995973 | RTL1 | c.1534C>A (p.His512Asn)
| |
| 14 | g.100883255_100883257del | CA2802833482 | RTL1 | c.1532_1534del (p.Val511_His512delinsAsp)
| |
| 14 | g.100883256G>A | CA488181779 | RTL1 | c.1533C>T (p.Val511=)
| COSMIC |
| 14 | g.100883256G>C | CA488181781 | RTL1 | c.1533C>G (p.Val511=)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883256G= | CA2159075022 | RTL1 | c.1533C= (p.Val511=)
| |
| 14 | g.100883256G>T | CA488181785 | RTL1 | c.1533C>A (p.Val511=)
| |
| 14 | g.100883257A= | CA2159075023 | RTL1 | c.1532T= (p.Val511=)
| |
| 14 | g.100883257A>C | CA390995975 | RTL1 | c.1532T>G (p.Val511Gly)
| |
| 14 | g.100883257A>G | CA390995976 | RTL1 | c.1532T>C (p.Val511Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883257A>T | CA266905487 | RTL1 | c.1532T>A (p.Val511Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883257_100883258insG | CA2802833483 | RTL1 | c.1531_1532insC (p.Val511AlafsTer?)
| |
| 14 | g.100883258C>A | CA390995977 | RTL1 | c.1531G>T (p.Val511Phe)
| |
| 14 | g.100883258C>G | CA390995979 | RTL1 | c.1531G>C (p.Val511Leu)
| |
| 14 | g.100883258C>T | CA390995978 | RTL1 | c.1531G>A (p.Val511Ile)
| |
| 14 | g.100883259T>A | CA488181795 | RTL1 | c.1530A>T (p.Arg510=)
| |
| 14 | g.100883259T>C | CA488181796 | RTL1 | c.1530A>G (p.Arg510=)
| |
| 14 | g.100883259T>G | CA488181797 | RTL1 | c.1530A>C (p.Arg510=)
| |
| 14 | g.100883260del | CA2802833484 | RTL1 | c.1529del (p.Arg510GlnfsTer22)
| |
| 14 | g.100883260C>A | CA390995980 | RTL1 | c.1529G>T (p.Arg510Leu)
| gnomAD v4 |
| 14 | g.100883260C= | CA2159075025 | RTL1 | c.1529G= (p.Arg510=)
| |
| 14 | g.100883260C>G | CA390995982 | RTL1 | c.1529G>C (p.Arg510Pro)
| |
| 14 | g.100883260C>T | CA390995981 | RTL1 | c.1529G>A (p.Arg510Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883261G>A | CA390995983 | RTL1 | c.1528C>T (p.Arg510Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.100883261G>C | CA390995984 | RTL1 | c.1528C>G (p.Arg510Gly)
| ClinVar gnomAD v4 |
| 14 | g.100883261G= | CA2159075026 | RTL1 | c.1528C= (p.Arg510=)
| |
| 14 | g.100883261G>T | CA488181804 | RTL1 | c.1528C>A (p.Arg510=)
| |
| 14 | g.100883261_100883262del | CA2802833485 | RTL1 | c.1527_1528del (p.Arg510SerfsTer?)
| |
| 14 | g.100883262G>A | CA488181805 | RTL1 | c.1527C>T (p.Leu509=)
| |
| 14 | g.100883262G>C | CA266905490 | RTL1 | c.1527C>G (p.Leu509=)
| dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883262G= | CA2159075027 | RTL1 | c.1527C= (p.Leu509=)
| |
| 14 | g.100883262G>T | CA488181806 | RTL1 | c.1527C>A (p.Leu509=)
| |
| 14 | g.100883263A>C | CA390995985 | RTL1 | c.1526T>G (p.Leu509Arg)
| |
| 14 | g.100883263A>G | CA390995986 | RTL1 | c.1526T>C (p.Leu509Pro)
| |
| 14 | g.100883263A>T | CA390995987 | RTL1 | c.1526T>A (p.Leu509His)
| gnomAD v4 |
| 14 | g.100883264G>A | CA390995988 | RTL1 | c.1525C>T (p.Leu509Phe)
| |
| 14 | g.100883264G>C | CA390995989 | RTL1 | c.1525C>G (p.Leu509Val)
| |
| 14 | g.100883264G>T | CA390995990 | RTL1 | c.1525C>A (p.Leu509Ile)
| |
| 14 | g.100883265C>A | CA390995991 | RTL1 | c.1524G>T (p.Trp508Cys)
| |
| 14 | g.100883265C>G | CA390995992 | RTL1 | c.1524G>C (p.Trp508Cys)
| |
| 14 | g.100883265C>T | CA390995993 | RTL1 | c.1524G>A (p.Trp508Ter)
| |
| 14 | g.100883266C>A | CA390995994 | RTL1 | c.1523G>T (p.Trp508Leu)
| |
| 14 | g.100883266C>G | CA390995995 | RTL1 | c.1523G>C (p.Trp508Ser)
| |
| 14 | g.100883266C>T | CA390995996 | RTL1 | c.1523G>A (p.Trp508Ter)
| COSMIC |
| 14 | g.100883267A>C | CA390995999 | RTL1 | c.1522T>G (p.Trp508Gly)
| |
| 14 | g.100883267A>G | CA390995997 | RTL1 | c.1522T>C (p.Trp508Arg)
| |
| 14 | g.100883267A>T | CA390995998 | RTL1 | c.1522T>A (p.Trp508Arg)
| |
| 14 | g.100883268G>A | CA488181826 | RTL1 | c.1521C>T (p.Arg507=)
| gnomAD v4 |
| 14 | g.100883268G>C | CA266905492 | RTL1 | c.1521C>G (p.Arg507=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883268G= | CA2159075028 | RTL1 | c.1521C= (p.Arg507=)
| |
| 14 | g.100883268G>T | CA488181831 | RTL1 | c.1521C>A (p.Arg507=)
| |
| 14 | g.100883269C>A | CA390996000 | RTL1 | c.1520G>T (p.Arg507Leu)
| dbSNP |
| 14 | g.100883269C= | CA2159075029 | RTL1 | c.1520G= (p.Arg507=)
| |
| 14 | g.100883269C>G | CA390996001 | RTL1 | c.1520G>C (p.Arg507Pro)
| |
| 14 | g.100883269C>T | CA7347309 | RTL1 | c.1520G>A (p.Arg507His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.100883270G>A | CA7347310 | RTL1 | c.1519C>T (p.Arg507Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883270G>C | CA390996002 | RTL1 | c.1519C>G (p.Arg507Gly)
| dbSNP |
| 14 | g.100883270G= | CA2159075030 | RTL1 | c.1519C= (p.Arg507=)
| |
| 14 | g.100883270G>T | CA390996003 | RTL1 | c.1519C>A (p.Arg507Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883270_100883272del | CA2802833486 | RTL1 | c.1517_1519del (p.Ile506_Arg507delinsSer)
| |
| 14 | g.100883271G>A | CA488181842 | RTL1 | c.1518C>T (p.Ile506=)
| |
| 14 | g.100883271G>C | CA390996004 | RTL1 | c.1518C>G (p.Ile506Met)
| |
| 14 | g.100883271G>T | CA488181840 | RTL1 | c.1518C>A (p.Ile506=)
| gnomAD v4 |
| 14 | g.100883272A= | CA2159075035 | RTL1 | c.1517T= (p.Ile506=)
| |
| 14 | g.100883272A>C | CA390996005 | RTL1 | c.1517T>G (p.Ile506Ser)
| |
| 14 | g.100883272A>G | CA390996006 | RTL1 | c.1517T>C (p.Ile506Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883272A>T | CA390996007 | RTL1 | c.1517T>A (p.Ile506Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883273T>A | CA390996010 | RTL1 | c.1516A>T (p.Ile506Phe)
| |
| 14 | g.100883273T>C | CA390996009 | RTL1 | c.1516A>G (p.Ile506Val)
| |
| 14 | g.100883273T>G | CA390996008 | RTL1 | c.1516A>C (p.Ile506Leu)
| |
| 14 | g.100883274G>A | CA266905501 | RTL1 | c.1515C>T (p.Gly505=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883274G>C | CA488181848 | RTL1 | c.1515C>G (p.Gly505=)
| |
| 14 | g.100883274G= | CA2159075036 | RTL1 | c.1515C= (p.Gly505=)
| |
| 14 | g.100883274G>T | CA488181854 | RTL1 | c.1515C>A (p.Gly505=)
| |
| 14 | g.100883275C>A | CA390996011 | RTL1 | c.1514G>T (p.Gly505Val)
| |
| 14 | g.100883275C>G | CA390996012 | RTL1 | c.1514G>C (p.Gly505Ala)
| |
| 14 | g.100883275C>T | CA390996013 | RTL1 | c.1514G>A (p.Gly505Asp)
| |
| 14 | g.100883275_100883276insTCTT | CA2802833487 | RTL1 | c.1513_1514insAAGA (p.Gly505GlufsTer?)
| |
| 14 | g.100883276C>A | CA390996014 | RTL1 | c.1513G>T (p.Gly505Cys)
| |
| 14 | g.100883276C>G | CA390996015 | RTL1 | c.1513G>C (p.Gly505Arg)
| |
| 14 | g.100883276C>T | CA390996016 | RTL1 | c.1513G>A (p.Gly505Ser)
| gnomAD v4 |
| 14 | g.100883277T>A | CA488181860 | RTL1 | c.1512A>T (p.Leu504=)
| |
| 14 | g.100883277T>C | CA488181858 | RTL1 | c.1512A>G (p.Leu504=)
| |
| 14 | g.100883277T>G | CA488181859 | RTL1 | c.1512A>C (p.Leu504=)
| |
| 14 | g.100883278A= | CA2159075037 | RTL1 | c.1511T= (p.Leu504=)
| |
| 14 | g.100883278A>C | CA390996017 | RTL1 | c.1511T>G (p.Leu504Arg)
| |
| 14 | g.100883278A>G | CA266905522 | RTL1 | c.1511T>C (p.Leu504Pro)
| dbSNP COSMIC |
| 14 | g.100883278A>T | CA390996018 | RTL1 | c.1511T>A (p.Leu504Gln)
| gnomAD v4 |
| 14 | g.100883279G>A | CA488181861 | RTL1 | c.1510C>T (p.Leu504=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883279G>C | CA390996019 | RTL1 | c.1510C>G (p.Leu504Val)
| |
| 14 | g.100883279G= | CA2159075038 | RTL1 | c.1510C= (p.Leu504=)
| |
| 14 | g.100883279G>T | CA390996020 | RTL1 | c.1510C>A (p.Leu504Ile)
| |
| 14 | g.100883279_100883292del | CA2802833488 | RTL1 | c.1497_1510del (p.Phe500ArgfsTer?)
| |
| 14 | g.100883280G>A | CA488181862 | RTL1 | c.1509C>T (p.Val503=)
| dbSNP gnomAD v4 |
| 14 | g.100883280G>C | CA488181863 | RTL1 | c.1509C>G (p.Val503=)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883280G= | CA2159075042 | RTL1 | c.1509C= (p.Val503=)
| |
| 14 | g.100883280G>T | CA488181864 | RTL1 | c.1509C>A (p.Val503=)
| |
| 14 | g.100883281A>C | CA390996023 | RTL1 | c.1508T>G (p.Val503Gly)
| |
| 14 | g.100883281A>G | CA390996022 | RTL1 | c.1508T>C (p.Val503Ala)
| |
| 14 | g.100883281A>T | CA390996021 | RTL1 | c.1508T>A (p.Val503Asp)
| |
