Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.167341472C>A | CA366424854 | TTLL2 | c.1572C>A (p.Tyr524Ter) c.1353C>A (p.Tyr451Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341472C= | CA1680342118 | TTLL2 | c.1572C= (p.Tyr524=) c.1353C= (p.Tyr451=) | |
6 | g.167341472C>G | CA366424855 | TTLL2 | c.1572C>G (p.Tyr524Ter) c.1353C>G (p.Tyr451Ter) | |
6 | g.167341472C>T | CA4097563 | TTLL2 | c.1572C>T (p.Tyr524=) c.1353C>T (p.Tyr451=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341473G>A | CA4097564 | TTLL2 | c.1573G>A (p.Ala525Thr) c.1354G>A (p.Ala452Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341473G>C | CA366424856 | TTLL2 | c.1573G>C (p.Ala525Pro) c.1354G>C (p.Ala452Pro) | |
6 | g.167341473G= | CA1680342119 | TTLL2 | c.1573G= (p.Ala525=) c.1354G= (p.Ala452=) | |
6 | g.167341473G>T | CA366424857 | TTLL2 | c.1573G>T (p.Ala525Ser) c.1354G>T (p.Ala452Ser) | |
6 | g.167341474C>A | CA366424858 | TTLL2 | c.1574C>A (p.Ala525Glu) c.1355C>A (p.Ala452Glu) | |
6 | g.167341474C= | CA1680342120 | TTLL2 | c.1574C= (p.Ala525=) c.1355C= (p.Ala452=) | |
6 | g.167341474C>G | CA366424859 | TTLL2 | c.1574C>G (p.Ala525Gly) c.1355C>G (p.Ala452Gly) | |
6 | g.167341474C>T | CA4097565 | TTLL2 | c.1574C>T (p.Ala525Val) c.1355C>T (p.Ala452Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341475G>A | CA4097566 | TTLL2 | c.1575G>A (p.Ala525=) c.1356G>A (p.Ala452=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341475G>C | CA453305424 | TTLL2 | c.1575G>C (p.Ala525=) c.1356G>C (p.Ala452=) | |
6 | g.167341475G= | CA1680342121 | TTLL2 | c.1575G= (p.Ala525=) c.1356G= (p.Ala452=) | |
6 | g.167341475G>T | CA453305425 | TTLL2 | c.1575G>T (p.Ala525=) c.1356G>T (p.Ala452=) | |
6 | g.167341476T>A | CA366424860 | TTLL2 | c.1576T>A (p.Ser526Thr) c.1357T>A (p.Ser453Thr) | |
6 | g.167341476T>C | CA366424861 | TTLL2 | c.1576T>C (p.Ser526Pro) c.1357T>C (p.Ser453Pro) | |
6 | g.167341476T>G | CA366424862 | TTLL2 | c.1576T>G (p.Ser526Ala) c.1357T>G (p.Ser453Ala) | |
6 | g.167341477C>A | CA366424863 | TTLL2 | c.1577C>A (p.Ser526Tyr) c.1358C>A (p.Ser453Tyr) | |
6 | g.167341477C= | CA1680342122 | TTLL2 | c.1577C= (p.Ser526=) c.1358C= (p.Ser453=) | |
6 | g.167341477C>G | CA366424864 | TTLL2 | c.1577C>G (p.Ser526Cys) c.1358C>G (p.Ser453Cys) | |
6 | g.167341477C>T | CA366424865 | TTLL2 | c.1577C>T (p.Ser526Phe) c.1358C>T (p.Ser453Phe) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341478C>A | CA453305427 | TTLL2 | c.1578C>A (p.Ser526=) c.1359C>A (p.Ser453=) | |
6 | g.167341478C= | CA1680342123 | TTLL2 | c.1578C= (p.Ser526=) c.1359C= (p.Ser453=) | |
6 | g.167341478C>G | CA453305428 | TTLL2 | c.1578C>G (p.Ser526=) c.1359C>G (p.Ser453=) | dbSNP |
6 | g.167341478C>T | CA4097567 | TTLL2 | c.1578C>T (p.Ser526=) c.1359C>T (p.Ser453=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341479C>A | CA366424867 | TTLL2 | c.1579C>A (p.Leu527Ile) c.1360C>A (p.Leu454Ile) | |
6 | g.167341479C>G | CA366424868 | TTLL2 | c.1579C>G (p.Leu527Val) c.1360C>G (p.Leu454Val) | gnomAD v4 |
6 | g.167341479C>T | CA366424866 | TTLL2 | c.1579C>T (p.Leu527Phe) c.1360C>T (p.Leu454Phe) | gnomAD v4 |
6 | g.167341480T>A | CA366424869 | TTLL2 | c.1580T>A (p.Leu527His) c.1361T>A (p.Leu454His) | |
6 | g.167341480T>C | CA366424871 | TTLL2 | c.1580T>C (p.Leu527Pro) c.1361T>C (p.Leu454Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341480T>G | CA366424870 | TTLL2 | c.1580T>G (p.Leu527Arg) c.1361T>G (p.Leu454Arg) | |
6 | g.167341480T= | CA1680342124 | TTLL2 | c.1580T= (p.Leu527=) c.1361T= (p.Leu454=) | |
6 | g.167341481C>A | CA453305432 | TTLL2 | c.1581C>A (p.Leu527=) c.1362C>A (p.Leu454=) | |
6 | g.167341481C= | CA1680342125 | TTLL2 | c.1581C= (p.Leu527=) c.1362C= (p.Leu454=) | |
6 | g.167341481C>G | CA4097568 | TTLL2 | c.1581C>G (p.Leu527=) c.1362C>G (p.Leu454=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341481C>T | CA453305431 | TTLL2 | c.1581C>T (p.Leu527=) c.1362C>T (p.Leu454=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341482T>A | CA366424874 | TTLL2 | c.1582T>A (p.Phe528Ile) c.1363T>A (p.Phe455Ile) | |
6 | g.167341482T>C | CA366424872 | TTLL2 | c.1582T>C (p.Phe528Leu) c.1363T>C (p.Phe455Leu) | |
6 | g.167341482T>G | CA366424873 | TTLL2 | c.1582T>G (p.Phe528Val) c.1363T>G (p.Phe455Val) | |
6 | g.167341483T>A | CA366424875 | TTLL2 | c.1583T>A (p.Phe528Tyr) c.1364T>A (p.Phe455Tyr) | |
6 | g.167341483T>C | CA366424876 | TTLL2 | c.1583T>C (p.Phe528Ser) c.1364T>C (p.Phe455Ser) | gnomAD v4 |
6 | g.167341483T>G | CA366424877 | TTLL2 | c.1583T>G (p.Phe528Cys) c.1364T>G (p.Phe455Cys) | |
6 | g.167341484C>A | CA366424878 | TTLL2 | c.1584C>A (p.Phe528Leu) c.1365C>A (p.Phe455Leu) | |
6 | g.167341484C>G | CA366424879 | TTLL2 | c.1584C>G (p.Phe528Leu) c.1365C>G (p.Phe455Leu) | dbSNP |
6 | g.167341484C>T | CA453305434 | TTLL2 | c.1584C>T (p.Phe528=) c.1365C>T (p.Phe455=) | |
6 | g.167341485C>A | CA366424880 | TTLL2 | c.1585C>A (p.Gln529Lys) c.1366C>A (p.Gln456Lys) | |
6 | g.167341485C>G | CA366424881 | TTLL2 | c.1585C>G (p.Gln529Glu) c.1366C>G (p.Gln456Glu) | |
6 | g.167341485C>T | CA366424882 | TTLL2 | c.1585C>T (p.Gln529Ter) c.1366C>T (p.Gln456Ter) | gnomAD v4 |
6 | g.167341486A>C | CA366424885 | TTLL2 | c.1586A>C (p.Gln529Pro) c.1367A>C (p.Gln456Pro) | |
6 | g.167341486A>G | CA366424884 | TTLL2 | c.1586A>G (p.Gln529Arg) c.1367A>G (p.Gln456Arg) | |
6 | g.167341486A>T | CA366424883 | TTLL2 | c.1586A>T (p.Gln529Leu) c.1367A>T (p.Gln456Leu) | gnomAD v4 |
6 | g.167341487G>A | CA453305436 | TTLL2 | c.1587G>A (p.Gln529=) c.1368G>A (p.Gln456=) | |
6 | g.167341487G>C | CA366424886 | TTLL2 | c.1587G>C (p.Gln529His) c.1368G>C (p.Gln456His) | dbSNP |
6 | g.167341487G= | CA1680342126 | TTLL2 | c.1587G= (p.Gln529=) c.1368G= (p.Gln456=) | |
6 | g.167341487G>T | CA4097569 | TTLL2 | c.1587G>T (p.Gln529His) c.1368G>T (p.Gln456His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.167341488T>A | CA366424887 | TTLL2 | c.1588T>A (p.Ser530Thr) c.1369T>A (p.Ser457Thr) | |
6 | g.167341488T>C | CA366424888 | TTLL2 | c.1588T>C (p.Ser530Pro) c.1369T>C (p.Ser457Pro) | COSMIC |
6 | g.167341488T>G | CA366424889 | TTLL2 | c.1588T>G (p.Ser530Ala) c.1369T>G (p.Ser457Ala) | |
6 | g.167341489C>A | CA366424890 | TTLL2 | c.1589C>A (p.Ser530Ter) c.1370C>A (p.Ser457Ter) | |
6 | g.167341489C= | CA1680342127 | TTLL2 | c.1589C= (p.Ser530=) c.1370C= (p.Ser457=) | |
6 | g.167341489C>G | CA366424891 | TTLL2 | c.1589C>G (p.Ser530Trp) c.1370C>G (p.Ser457Trp) | |
6 | g.167341489C>T | CA4097570 | TTLL2 | c.1589C>T (p.Ser530Leu) c.1370C>T (p.Ser457Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341490G>A | CA4097571 | TTLL2 | c.1590G>A (p.Ser530=) c.1371G>A (p.Ser457=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341490G>C | CA453305439 | TTLL2 | c.1590G>C (p.Ser530=) c.1371G>C (p.Ser457=) | gnomAD v4 |
6 | g.167341490G= | CA1680342128 | TTLL2 | c.1590G= (p.Ser530=) c.1371G= (p.Ser457=) | |
6 | g.167341490G>T | CA453305440 | TTLL2 | c.1590G>T (p.Ser530=) c.1371G>T (p.Ser457=) | gnomAD v4 |
6 | g.167341491C>A | CA366424892 | TTLL2 | c.1591C>A (p.His531Asn) c.1372C>A (p.His458Asn) | |
6 | g.167341491C>G | CA366424893 | TTLL2 | c.1591C>G (p.His531Asp) c.1372C>G (p.His458Asp) | |
6 | g.167341491C>T | CA366424894 | TTLL2 | c.1591C>T (p.His531Tyr) c.1372C>T (p.His458Tyr) | |
6 | g.167341492A>C | CA366424896 | TTLL2 | c.1592A>C (p.His531Pro) c.1373A>C (p.His458Pro) | |
6 | g.167341492A>G | CA366424897 | TTLL2 | c.1592A>G (p.His531Arg) c.1373A>G (p.His458Arg) | |
6 | g.167341492A>T | CA366424895 | TTLL2 | c.1592A>T (p.His531Leu) c.1373A>T (p.His458Leu) | gnomAD v4 |
6 | g.167341493C>A | CA366424898 | TTLL2 | c.1593C>A (p.His531Gln) c.1374C>A (p.His458Gln) | gnomAD v4 |
6 | g.167341493C>G | CA366424899 | TTLL2 | c.1593C>G (p.His531Gln) c.1374C>G (p.His458Gln) | gnomAD v4 |
6 | g.167341493C>T | CA453305443 | TTLL2 | c.1593C>T (p.His531=) c.1374C>T (p.His458=) | |
6 | g.167341494T>A | CA366424900 | TTLL2 | c.1594T>A (p.Ser532Thr) c.1375T>A (p.Ser459Thr) | |
6 | g.167341494T>C | CA366424901 | TTLL2 | c.1594T>C (p.Ser532Pro) c.1375T>C (p.Ser459Pro) | |
6 | g.167341494T>G | CA366424902 | TTLL2 | c.1594T>G (p.Ser532Ala) c.1375T>G (p.Ser459Ala) | |
6 | g.167341495C>A | CA366424903 | TTLL2 | c.1595C>A (p.Ser532Tyr) c.1376C>A (p.Ser459Tyr) | |
6 | g.167341495C= | CA1680342129 | TTLL2 | c.1595C= (p.Ser532=) c.1376C= (p.Ser459=) | |
6 | g.167341495C>G | CA366424904 | TTLL2 | c.1595C>G (p.Ser532Cys) c.1376C>G (p.Ser459Cys) | |
6 | g.167341495C>T | CA4097572 | TTLL2 | c.1595C>T (p.Ser532Phe) c.1376C>T (p.Ser459Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341496C>A | CA453305445 | TTLL2 | c.1596C>A (p.Ser532=) c.1377C>A (p.Ser459=) | |
6 | g.167341496C>G | CA453305446 | TTLL2 | c.1596C>G (p.Ser532=) c.1377C>G (p.Ser459=) | |
6 | g.167341496C>T | CA453305447 | TTLL2 | c.1596C>T (p.Ser532=) c.1377C>T (p.Ser459=) | |
6 | g.167341497T>A | CA366424905 | TTLL2 | c.1597T>A (p.Cys533Ser) c.1378T>A (p.Cys460Ser) | |
6 | g.167341497T>C | CA366424906 | TTLL2 | c.1597T>C (p.Cys533Arg) c.1378T>C (p.Cys460Arg) | |
6 | g.167341497T>G | CA366424907 | TTLL2 | c.1597T>G (p.Cys533Gly) c.1378T>G (p.Cys460Gly) | |
6 | g.167341498G>A | CA151970548 | TTLL2 | c.1598G>A (p.Cys533Tyr) c.1379G>A (p.Cys460Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341498G>C | CA366424909 | TTLL2 | c.1598G>C (p.Cys533Ser) c.1379G>C (p.Cys460Ser) | |
6 | g.167341498G= | CA1680342130 | TTLL2 | c.1598G= (p.Cys533=) c.1379G= (p.Cys460=) | |
6 | g.167341498G>T | CA366424908 | TTLL2 | c.1598G>T (p.Cys533Phe) c.1379G>T (p.Cys460Phe) | gnomAD v4 |
6 | g.167341499C>A | CA4097573 | TTLL2 | c.1599C>A (p.Cys533Ter) c.1380C>A (p.Cys460Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341499C= | CA1680342131 | TTLL2 | c.1599C= (p.Cys533=) c.1380C= (p.Cys460=) | |
6 | g.167341499C>G | CA366424910 | TTLL2 | c.1599C>G (p.Cys533Trp) c.1380C>G (p.Cys460Trp) | gnomAD v4 |
6 | g.167341499C>T | CA453305451 | TTLL2 | c.1599C>T (p.Cys533=) c.1380C>T (p.Cys460=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341500A>C | CA366424911 | TTLL2 | c.1600A>C (p.Lys534Gln) c.1381A>C (p.Lys461Gln) | |
6 | g.167341500A>G | CA366424912 | TTLL2 | c.1600A>G (p.Lys534Glu) c.1381A>G (p.Lys461Glu) | |
6 | g.167341500A>T | CA366424913 | TTLL2 | c.1600A>T (p.Lys534Ter) c.1381A>T (p.Lys461Ter) | |
6 | g.167341501A= | CA1680342132 | TTLL2 | c.1601A= (p.Lys534=) c.1382A= (p.Lys461=) | |
6 | g.167341501A>C | CA366424915 | TTLL2 | c.1601A>C (p.Lys534Thr) c.1382A>C (p.Lys461Thr) | |
6 | g.167341501A>G | CA4097574 | TTLL2 | c.1601A>G (p.Lys534Arg) c.1382A>G (p.Lys461Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.167341501A>T | CA366424914 | TTLL2 | c.1601A>T (p.Lys534Met) c.1382A>T (p.Lys461Met) | |
6 | g.167341502G>A | CA453305452 | TTLL2 | c.1602G>A (p.Lys534=) c.1383G>A (p.Lys461=) | |
6 | g.167341502G>C | CA151970562 | TTLL2 | c.1602G>C (p.Lys534Asn) c.1383G>C (p.Lys461Asn) | dbSNP |
6 | g.167341502G= | CA1680342133 | TTLL2 | c.1602G= (p.Lys534=) c.1383G= (p.Lys461=) | |
6 | g.167341502G>T | CA366424916 | TTLL2 | c.1602G>T (p.Lys534Asn) c.1383G>T (p.Lys461Asn) | gnomAD v4 |
6 | g.167341503A>C | CA366424917 | TTLL2 | c.1603A>C (p.Thr535Pro) c.1384A>C (p.Thr462Pro) | |
6 | g.167341503A>G | CA366424918 | TTLL2 | c.1603A>G (p.Thr535Ala) c.1384A>G (p.Thr462Ala) | |
6 | g.167341503A>T | CA366424919 | TTLL2 | c.1603A>T (p.Thr535Ser) c.1384A>T (p.Thr462Ser) | |
6 | g.167341504C>A | CA366424922 | TTLL2 | c.1604C>A (p.Thr535Asn) c.1385C>A (p.Thr462Asn) | gnomAD v4 |
6 | g.167341504C= | CA1680342134 | TTLL2 | c.1604C= (p.Thr535=) c.1385C= (p.Thr462=) | |
6 | g.167341504C>G | CA366424921 | TTLL2 | c.1604C>G (p.Thr535Ser) c.1385C>G (p.Thr462Ser) | |
6 | g.167341504C>T | CA366424920 | TTLL2 | c.1604C>T (p.Thr535Ile) c.1385C>T (p.Thr462Ile) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341505C>A | CA453305456 | TTLL2 | c.1605C>A (p.Thr535=) c.1386C>A (p.Thr462=) | |
6 | g.167341505C>G | CA453305457 | TTLL2 | c.1605C>G (p.Thr535=) c.1386C>G (p.Thr462=) | |
6 | g.167341505C>T | CA453305458 | TTLL2 | c.1605C>T (p.Thr535=) c.1386C>T (p.Thr462=) | |
6 | g.167341506A>C | CA366424923 | TTLL2 | c.1606A>C (p.Lys536Gln) c.1387A>C (p.Lys463Gln) | |
6 | g.167341506A>G | CA366424925 | TTLL2 | c.1606A>G (p.Lys536Glu) c.1387A>G (p.Lys463Glu) | |
6 | g.167341506A>T | CA366424924 | TTLL2 | c.1606A>T (p.Lys536Ter) c.1387A>T (p.Lys463Ter) | |
6 | g.167341507A>C | CA366424926 | TTLL2 | c.1607A>C (p.Lys536Thr) c.1388A>C (p.Lys463Thr) | |
6 | g.167341507A>G | CA366424927 | TTLL2 | c.1607A>G (p.Lys536Arg) c.1388A>G (p.Lys463Arg) | |
6 | g.167341507A>T | CA366424928 | TTLL2 | c.1607A>T (p.Lys536Met) c.1388A>T (p.Lys463Met) | |
6 | g.167341508G>A | CA453305462 | TTLL2 | c.1608G>A (p.Lys536=) c.1389G>A (p.Lys463=) | |
6 | g.167341508G>C | CA366424929 | TTLL2 | c.1608G>C (p.Lys536Asn) c.1389G>C (p.Lys463Asn) | |
6 | g.167341508G>T | CA366424930 | TTLL2 | c.1608G>T (p.Lys536Asn) c.1389G>T (p.Lys463Asn) | COSMIC |
6 | g.167341509A>C | CA366424931 | TTLL2 | c.1609A>C (p.Thr537Pro) c.1390A>C (p.Thr464Pro) | |
6 | g.167341509A>G | CA366424932 | TTLL2 | c.1609A>G (p.Thr537Ala) c.1390A>G (p.Thr464Ala) | |
6 | g.167341509A>T | CA366424933 | TTLL2 | c.1609A>T (p.Thr537Ser) c.1390A>T (p.Thr464Ser) | |
6 | g.167341510C>A | CA366424934 | TTLL2 | c.1610C>A (p.Thr537Asn) c.1391C>A (p.Thr464Asn) | |
6 | g.167341510C>G | CA366424935 | TTLL2 | c.1610C>G (p.Thr537Ser) c.1391C>G (p.Thr464Ser) | gnomAD v4 |
6 | g.167341510C>T | CA366424936 | TTLL2 | c.1610C>T (p.Thr537Ile) c.1391C>T (p.Thr464Ile) | gnomAD v4 |
6 | g.167341511C>A | CA453305463 | TTLL2 | c.1611C>A (p.Thr537=) c.1392C>A (p.Thr464=) | dbSNP |
6 | g.167341511C>G | CA453305464 | TTLL2 | c.1611C>G (p.Thr537=) c.1392C>G (p.Thr464=) | |
6 | g.167341511C>T | CA453305465 | TTLL2 | c.1611C>T (p.Thr537=) c.1392C>T (p.Thr464=) | gnomAD v4 |
6 | g.167341512T>A | CA366424939 | TTLL2 | c.1612T>A (p.Ser538Thr) c.1393T>A (p.Ser465Thr) | |
6 | g.167341512T>C | CA366424937 | TTLL2 | c.1612T>C (p.Ser538Pro) c.1393T>C (p.Ser465Pro) | |
6 | g.167341512T>G | CA366424938 | TTLL2 | c.1612T>G (p.Ser538Ala) c.1393T>G (p.Ser465Ala) | |
6 | g.167341512_167341513delinsTC | CA1680342135 | TTLL2 | c.1612_1613delinsTC (p.Ser538=) c.1393_1394delinsTC (p.Ser465=) | |
6 | g.167341513C>A | CA366424940 | TTLL2 | c.1613C>A (p.Ser538Tyr) c.1394C>A (p.Ser465Tyr) | dbSNP gnomAD v2 |
6 | g.167341513C= | CA1680342136 | TTLL2 | c.1613C= (p.Ser538=) c.1394C= (p.Ser465=) | |
6 | g.167341513C>G | CA366424941 | TTLL2 | c.1613C>G (p.Ser538Cys) c.1394C>G (p.Ser465Cys) | |
6 | g.167341513C>T | CA366424942 | TTLL2 | c.1613C>T (p.Ser538Phe) c.1394C>T (p.Ser465Phe) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341516del | CA572350553 | TTLL2 | c.1616del (p.Pro539ArgfsTer?) c.1397del (p.Pro466ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341514C>A | CA453305467 | TTLL2 | c.1614C>A (p.Ser538=) c.1395C>A (p.Ser465=) | |
6 | g.167341514C>G | CA453305468 | TTLL2 | c.1614C>G (p.Ser538=) c.1395C>G (p.Ser465=) | |
6 | g.167341514C>T | CA453305469 | TTLL2 | c.1614C>T (p.Ser538=) c.1395C>T (p.Ser465=) | |
6 | g.167341515C>A | CA366424943 | TTLL2 | c.1615C>A (p.Pro539Thr) c.1396C>A (p.Pro466Thr) | |
6 | g.167341515C= | CA1680342137 | TTLL2 | c.1615C= (p.Pro539=) c.1396C= (p.Pro466=) | |
6 | g.167341515C>G | CA366424944 | TTLL2 | c.1615C>G (p.Pro539Ala) c.1396C>G (p.Pro466Ala) | |
6 | g.167341515C>T | CA366424945 | TTLL2 | c.1615C>T (p.Pro539Ser) c.1396C>T (p.Pro466Ser) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341516C>A | CA4097575 | TTLL2 | c.1616C>A (p.Pro539Gln) c.1397C>A (p.Pro466Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341516C= | CA1680342138 | TTLL2 | c.1616C= (p.Pro539=) c.1397C= (p.Pro466=) | |
6 | g.167341516C>G | CA366424946 | TTLL2 | c.1616C>G (p.Pro539Arg) c.1397C>G (p.Pro466Arg) | |
6 | g.167341516C>T | CA4097576 | TTLL2 | c.1616C>T (p.Pro539Leu) c.1397C>T (p.Pro466Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.167341517G>A | CA4097577 | TTLL2 | c.1617G>A (p.Pro539=) c.1398G>A (p.Pro466=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.167341517G>C | CA453090813 | TTLL2 | c.1617G>C (p.Pro539=) c.1398G>C (p.Pro466=) | |
6 | g.167341517G= | CA1680342139 | TTLL2 | c.1617G= (p.Pro539=) c.1398G= (p.Pro466=) | |
6 | g.167341517G>T | CA453090816 | TTLL2 | c.1617G>T (p.Pro539=) c.1398G>T (p.Pro466=) | |
6 | g.167341521_167341522dup | CA571943498 | TTLL2 | c.1621_1622dup (p.Leu542SerfsTer?) c.1402_1403dup (p.Leu469SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341518T>A | CA366424947 | TTLL2 | c.1618T>A (p.Cys540Ser) c.1399T>A (p.Cys467Ser) | |
6 | g.167341518T>C | CA366424948 | TTLL2 | c.1618T>C (p.Cys540Arg) c.1399T>C (p.Cys467Arg) | |
6 | g.167341518T>G | CA4097578 | TTLL2 | c.1618T>G (p.Cys540Gly) c.1399T>G (p.Cys467Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341518T= | CA1680342140 | TTLL2 | c.1618T= (p.Cys540=) c.1399T= (p.Cys467=) | |
6 | g.167341519G>A | CA366424949 | TTLL2 | c.1619G>A (p.Cys540Tyr) c.1400G>A (p.Cys467Tyr) | gnomAD v4 |
6 | g.167341519G>C | CA366424950 | TTLL2 | c.1619G>C (p.Cys540Ser) c.1400G>C (p.Cys467Ser) | |
6 | g.167341519G>T | CA366424951 | TTLL2 | c.1619G>T (p.Cys540Phe) c.1400G>T (p.Cys467Phe) | gnomAD v4 |
6 | g.167341520T>A | CA366424952 | TTLL2 | c.1620T>A (p.Cys540Ter) c.1401T>A (p.Cys467Ter) | |
6 | g.167341520T>C | CA453090841 | TTLL2 | c.1620T>C (p.Cys540=) c.1401T>C (p.Cys467=) | gnomAD v4 |
6 | g.167341520T>G | CA366424953 | TTLL2 | c.1620T>G (p.Cys540Trp) c.1401T>G (p.Cys467Trp) | |
6 | g.167341521G>A | CA366424956 | TTLL2 | c.1621G>A (p.Val541Ile) c.1402G>A (p.Val468Ile) | gnomAD v4 |
6 | g.167341521G>C | CA366424955 | TTLL2 | c.1621G>C (p.Val541Leu) c.1402G>C (p.Val468Leu) | |
6 | g.167341521G>T | CA366424954 | TTLL2 | c.1621G>T (p.Val541Phe) c.1402G>T (p.Val468Phe) | |
6 | g.167341522T>A | CA366424957 | TTLL2 | c.1622T>A (p.Val541Asp) c.1403T>A (p.Val468Asp) | |
6 | g.167341522T>C | CA366424958 | TTLL2 | c.1622T>C (p.Val541Ala) c.1403T>C (p.Val468Ala) | |
6 | g.167341522T>G | CA366424959 | TTLL2 | c.1622T>G (p.Val541Gly) c.1403T>G (p.Val468Gly) | |
6 | g.167341523C>A | CA4097579 | TTLL2 | c.1623C>A (p.Val541=) c.1404C>A (p.Val468=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341523C= | CA1680342141 | TTLL2 | c.1623C= (p.Val541=) c.1404C= (p.Val468=) | |
6 | g.167341523C>G | CA453090857 | TTLL2 | c.1623C>G (p.Val541=) c.1404C>G (p.Val468=) | |
6 | g.167341523C>T | CA453090859 | TTLL2 | c.1623C>T (p.Val541=) c.1404C>T (p.Val468=) | |
6 | g.167341524C>A | CA366424960 | TTLL2 | c.1624C>A (p.Leu542Met) c.1405C>A (p.Leu469Met) | |
6 | g.167341524C>G | CA366424961 | TTLL2 | c.1624C>G (p.Leu542Val) c.1405C>G (p.Leu469Val) | |
6 | g.167341524C>T | CA453090867 | TTLL2 | c.1624C>T (p.Leu542=) c.1405C>T (p.Leu469=) | COSMIC |
6 | g.167341525T>A | CA366424962 | TTLL2 | c.1625T>A (p.Leu542Gln) c.1406T>A (p.Leu469Gln) | |
6 | g.167341525T>C | CA366424964 | TTLL2 | c.1625T>C (p.Leu542Pro) c.1406T>C (p.Leu469Pro) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341525T>G | CA366424963 | TTLL2 | c.1625T>G (p.Leu542Arg) c.1406T>G (p.Leu469Arg) | |
6 | g.167341525T= | CA1680342142 | TTLL2 | c.1625T= (p.Leu542=) c.1406T= (p.Leu469=) | |
6 | g.167341526G>A | CA453090878 | TTLL2 | c.1626G>A (p.Leu542=) c.1407G>A (p.Leu469=) | |
6 | g.167341526G>C | CA453090879 | TTLL2 | c.1626G>C (p.Leu542=) c.1407G>C (p.Leu469=) | dbSNP COSMIC |
6 | g.167341526G>T | CA453090880 | TTLL2 | c.1626G>T (p.Leu542=) c.1407G>T (p.Leu469=) | |
6 | g.167341527T>A | CA366424965 | TTLL2 | c.1627T>A (p.Ser543Thr) c.1408T>A (p.Ser470Thr) | |
6 | g.167341527T>C | CA366424966 | TTLL2 | c.1627T>C (p.Ser543Pro) c.1408T>C (p.Ser470Pro) | |
6 | g.167341527T>G | CA366424967 | TTLL2 | c.1627T>G (p.Ser543Ala) c.1408T>G (p.Ser470Ala) | |
6 | g.167341528C>A | CA366424968 | TTLL2 | c.1628C>A (p.Ser543Ter) c.1409C>A (p.Ser470Ter) | |
6 | g.167341528C>G | CA366424969 | TTLL2 | c.1628C>G (p.Ser543Ter) c.1409C>G (p.Ser470Ter) | |
6 | g.167341528C>T | CA366424970 | TTLL2 | c.1628C>T (p.Ser543Leu) c.1409C>T (p.Ser470Leu) | |
6 | g.167341529A>C | CA453090882 | TTLL2 | c.1629A>C (p.Ser543=) c.1410A>C (p.Ser470=) | |
6 | g.167341529A>G | CA453090881 | TTLL2 | c.1629A>G (p.Ser543=) c.1410A>G (p.Ser470=) | |
6 | g.167341529A>T | CA453090883 | TTLL2 | c.1629A>T (p.Ser543=) c.1410A>T (p.Ser470=) | |
6 | g.167341530G>A | CA366424971 | TTLL2 | c.1630G>A (p.Asp544Asn) c.1411G>A (p.Asp471Asn) | |
6 | g.167341530G>C | CA366424972 | TTLL2 | c.1630G>C (p.Asp544His) c.1411G>C (p.Asp471His) | |
6 | g.167341530G>T | CA366424973 | TTLL2 | c.1630G>T (p.Asp544Tyr) c.1411G>T (p.Asp471Tyr) | |
6 | g.167341531A>C | CA366424974 | TTLL2 | c.1631A>C (p.Asp544Ala) c.1412A>C (p.Asp471Ala) | |
6 | g.167341531A>G | CA366424975 | TTLL2 | c.1631A>G (p.Asp544Gly) c.1412A>G (p.Asp471Gly) | |
6 | g.167341531A>T | CA366424976 | TTLL2 | c.1631A>T (p.Asp544Val) c.1412A>T (p.Asp471Val) | |
6 | g.167341532C>A | CA366424977 | TTLL2 | c.1632C>A (p.Asp544Glu) c.1413C>A (p.Asp471Glu) | |
6 | g.167341532C= | CA1680342143 | TTLL2 | c.1632C= (p.Asp544=) c.1413C= (p.Asp471=) | |
6 | g.167341532C>G | CA366424978 | TTLL2 | c.1632C>G (p.Asp544Glu) c.1413C>G (p.Asp471Glu) | |
6 | g.167341532C>T | CA4097580 | TTLL2 | c.1632C>T (p.Asp544=) c.1413C>T (p.Asp471=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341533C>A | CA4097582 | TTLL2 | c.1633C>A (p.Arg545Ser) c.1414C>A (p.Arg472Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341533C= | CA1680342144 | TTLL2 | c.1633C= (p.Arg545=) c.1414C= (p.Arg472=) | |
6 | g.167341533C>G | CA366424979 | TTLL2 | c.1633C>G (p.Arg545Gly) c.1414C>G (p.Arg472Gly) | gnomAD v4 |
6 | g.167341533C>T | CA4097581 | TTLL2 | c.1633C>T (p.Arg545Cys) c.1414C>T (p.Arg472Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341534G>A | CA4097583 | TTLL2 | c.1634G>A (p.Arg545His) c.1415G>A (p.Arg472His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341534G>C | CA366424980 | TTLL2 | c.1634G>C (p.Arg545Pro) c.1415G>C (p.Arg472Pro) | |
6 | g.167341534G= | CA1680342145 | TTLL2 | c.1634G= (p.Arg545=) c.1415G= (p.Arg472=) | |
6 | g.167341534G>T | CA4097584 | TTLL2 | c.1634G>T (p.Arg545Leu) c.1415G>T (p.Arg472Leu) | dbSNP ExAC |
6 | g.167341535T>A | CA453090897 | TTLL2 | c.1635T>A (p.Arg545=) c.1416T>A (p.Arg472=) | |
6 | g.167341535T>C | CA453090900 | TTLL2 | c.1635T>C (p.Arg545=) c.1416T>C (p.Arg472=) | dbSNP gnomAD v4 |
6 | g.167341535T>G | CA151970585 | TTLL2 | c.1635T>G (p.Arg545=) c.1416T>G (p.Arg472=) | dbSNP gnomAD v4 |
6 | g.167341535T= | CA1680342146 | TTLL2 | c.1635T= (p.Arg545=) c.1416T= (p.Arg472=) | |
6 | g.167341536G>A | CA366424981 | TTLL2 | c.1636G>A (p.Gly546Ser) c.1417G>A (p.Gly473Ser) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341536G>C | CA366424983 | TTLL2 | c.1636G>C (p.Gly546Arg) c.1417G>C (p.Gly473Arg) | |
6 | g.167341536G= | CA1680342147 | TTLL2 | c.1636G= (p.Gly546=) c.1417G= (p.Gly473=) | |
6 | g.167341536G>T | CA366424982 | TTLL2 | c.1636G>T (p.Gly546Cys) c.1417G>T (p.Gly473Cys) | |
6 | g.167341537G>A | CA366424984 | TTLL2 | c.1637G>A (p.Gly546Asp) c.1418G>A (p.Gly473Asp) | |
6 | g.167341537G>C | CA366424985 | TTLL2 | c.1637G>C (p.Gly546Ala) c.1418G>C (p.Gly473Ala) | |
6 | g.167341537G>T | CA366424986 | TTLL2 | c.1637G>T (p.Gly546Val) c.1418G>T (p.Gly473Val) | |
6 | g.167341538C>A | CA453090914 | TTLL2 | c.1638C>A (p.Gly546=) c.1419C>A (p.Gly473=) | |
6 | g.167341538C>G | CA453090916 | TTLL2 | c.1638C>G (p.Gly546=) c.1419C>G (p.Gly473=) | |
6 | g.167341538C>T | CA453090917 | TTLL2 | c.1638C>T (p.Gly546=) c.1419C>T (p.Gly473=) | |
6 | g.167341539A>C | CA366424987 | TTLL2 | c.1639A>C (p.Lys547Gln) c.1420A>C (p.Lys474Gln) | |
6 | g.167341539A>G | CA366424988 | TTLL2 | c.1639A>G (p.Lys547Glu) c.1420A>G (p.Lys474Glu) | |
6 | g.167341539A>T | CA366424989 | TTLL2 | c.1639A>T (p.Lys547Ter) c.1420A>T (p.Lys474Ter) | |
6 | g.167341540A>C | CA366424990 | TTLL2 | c.1640A>C (p.Lys547Thr) c.1421A>C (p.Lys474Thr) | |
6 | g.167341540A>G | CA366424991 | TTLL2 | c.1640A>G (p.Lys547Arg) c.1421A>G (p.Lys474Arg) | |
6 | g.167341540A>T | CA366424992 | TTLL2 | c.1640A>T (p.Lys547Ile) c.1421A>T (p.Lys474Ile) | |
6 | g.167341541A>C | CA366424993 | TTLL2 | c.1641A>C (p.Lys547Asn) c.1422A>C (p.Lys474Asn) | |
6 | g.167341541A>G | CA453090933 | TTLL2 | c.1641A>G (p.Lys547=) c.1422A>G (p.Lys474=) | gnomAD v4 |
6 | g.167341541A>T | CA366424994 | TTLL2 | c.1641A>T (p.Lys547Asn) c.1422A>T (p.Lys474Asn) | |
6 | g.167341541_167341542delinsAG | CA1680342148 | TTLL2 | c.1641_1642delinsAG (p.Lys547=) c.1422_1423delinsAG (p.Lys474=) | |
6 | g.167341542del | CA151970592 | TTLL2 | c.1642del (p.Ala548LeufsTer27) c.1423del (p.Ala475LeufsTer27) | dbSNP |
6 | g.167341542G>A | CA366424997 | TTLL2 | c.1642G>A (p.Ala548Thr) c.1423G>A (p.Ala475Thr) | dbSNP COSMIC |
6 | g.167341542G>C | CA366424996 | TTLL2 | c.1642G>C (p.Ala548Pro) c.1423G>C (p.Ala475Pro) | |
6 | g.167341542G= | CA1680342149 | TTLL2 | c.1642G= (p.Ala548=) c.1423G= (p.Ala475=) | |
6 | g.167341542G>T | CA366424995 | TTLL2 | c.1642G>T (p.Ala548Ser) c.1423G>T (p.Ala475Ser) | dbSNP |
6 | g.167341543C>A | CA366424998 | TTLL2 | c.1643C>A (p.Ala548Asp) c.1424C>A (p.Ala475Asp) | |
6 | g.167341543C>G | CA366424999 | TTLL2 | c.1643C>G (p.Ala548Gly) c.1424C>G (p.Ala475Gly) | |
6 | g.167341543C>T | CA366425000 | TTLL2 | c.1643C>T (p.Ala548Val) c.1424C>T (p.Ala475Val) | |
6 | g.167341544T>A | CA453090952 | TTLL2 | c.1644T>A (p.Ala548=) c.1425T>A (p.Ala475=) | |
6 | g.167341544T>C | CA4097585 | TTLL2 | c.1644T>C (p.Ala548=) c.1425T>C (p.Ala475=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341544T>G | CA453090948 | TTLL2 | c.1644T>G (p.Ala548=) c.1425T>G (p.Ala475=) | |
6 | g.167341544T= | CA1680342150 | TTLL2 | c.1644T= (p.Ala548=) c.1425T= (p.Ala475=) | |
6 | g.167341545C>A | CA366425001 | TTLL2 | c.1645C>A (p.Pro549Thr) c.1426C>A (p.Pro476Thr) | |
6 | g.167341545C>G | CA366425002 | TTLL2 | c.1645C>G (p.Pro549Ala) c.1426C>G (p.Pro476Ala) | |
6 | g.167341545C>T | CA366425003 | TTLL2 | c.1645C>T (p.Pro549Ser) c.1426C>T (p.Pro476Ser) | |
6 | g.167341546C>A | CA366425004 | TTLL2 | c.1646C>A (p.Pro549Gln) c.1427C>A (p.Pro476Gln) | |
6 | g.167341546C>G | CA366425005 | TTLL2 | c.1646C>G (p.Pro549Arg) c.1427C>G (p.Pro476Arg) | |
6 | g.167341546C>T | CA366425006 | TTLL2 | c.1646C>T (p.Pro549Leu) c.1427C>T (p.Pro476Leu) | |
6 | g.167341547A>C | CA453090970 | TTLL2 | c.1647A>C (p.Pro549=) c.1428A>C (p.Pro476=) | |
6 | g.167341547A>G | CA453090973 | TTLL2 | c.1647A>G (p.Pro549=) c.1428A>G (p.Pro476=) | |
6 | g.167341547A>T | CA453090976 | TTLL2 | c.1647A>T (p.Pro549=) c.1428A>T (p.Pro476=) | |
6 | g.167341548G>A | CA366425007 | TTLL2 | c.1648G>A (p.Asp550Asn) c.1429G>A (p.Asp477Asn) | COSMIC |
6 | g.167341548G>C | CA366425008 | TTLL2 | c.1648G>C (p.Asp550His) c.1429G>C (p.Asp477His) | |
6 | g.167341548G>T | CA366425009 | TTLL2 | c.1648G>T (p.Asp550Tyr) c.1429G>T (p.Asp477Tyr) | COSMIC |
6 | g.167341549A>C | CA366425011 | TTLL2 | c.1649A>C (p.Asp550Ala) c.1430A>C (p.Asp477Ala) | |
6 | g.167341549A>G | CA366425012 | TTLL2 | c.1649A>G (p.Asp550Gly) c.1430A>G (p.Asp477Gly) | |
6 | g.167341549A>T | CA366425010 | TTLL2 | c.1649A>T (p.Asp550Val) c.1430A>T (p.Asp477Val) | |
6 | g.167341550T>A | CA366425013 | TTLL2 | c.1650T>A (p.Asp550Glu) c.1431T>A (p.Asp477Glu) | |
6 | g.167341550T>C | CA453090993 | TTLL2 | c.1650T>C (p.Asp550=) c.1431T>C (p.Asp477=) | |
6 | g.167341550T>G | CA366425014 | TTLL2 | c.1650T>G (p.Asp550Glu) c.1431T>G (p.Asp477Glu) | |
6 | g.167341551C>A | CA366425015 | TTLL2 | c.1651C>A (p.Pro551Thr) c.1432C>A (p.Pro478Thr) | |
6 | g.167341551C>G | CA366425016 | TTLL2 | c.1651C>G (p.Pro551Ala) c.1432C>G (p.Pro478Ala) | |
6 | g.167341551C>T | CA366425017 | TTLL2 | c.1651C>T (p.Pro551Ser) c.1432C>T (p.Pro478Ser) | |
6 | g.167341552C>A | CA366425018 | TTLL2 | c.1652C>A (p.Pro551His) c.1433C>A (p.Pro478His) | |
6 | g.167341552C>G | CA366425019 | TTLL2 | c.1652C>G (p.Pro551Arg) c.1433C>G (p.Pro478Arg) | |
6 | g.167341552C>T | CA366425020 | TTLL2 | c.1652C>T (p.Pro551Leu) c.1433C>T (p.Pro478Leu) | |
6 | g.167341553C>A | CA453091007 | TTLL2 | c.1653C>A (p.Pro551=) c.1434C>A (p.Pro478=) | |
6 | g.167341553C>G | CA453091010 | TTLL2 | c.1653C>G (p.Pro551=) c.1434C>G (p.Pro478=) | |
6 | g.167341553C>T | CA453091012 | TTLL2 | c.1653C>T (p.Pro551=) c.1434C>T (p.Pro478=) | |
6 | g.167341554C>A | CA366425021 | TTLL2 | c.1654C>A (p.Gln552Lys) c.1435C>A (p.Gln479Lys) | COSMIC |
6 | g.167341554C>G | CA366425022 | TTLL2 | c.1654C>G (p.Gln552Glu) c.1435C>G (p.Gln479Glu) | |
6 | g.167341554C>T | CA366425023 | TTLL2 | c.1654C>T (p.Gln552Ter) c.1435C>T (p.Gln479Ter) | |
6 | g.167341555A= | CA1680342152 | TTLL2 | c.1655A= (p.Gln552=) c.1436A= (p.Gln479=) | |
6 | g.167341555A>C | CA366425026 | TTLL2 | c.1655A>C (p.Gln552Pro) c.1436A>C (p.Gln479Pro) | |
6 | g.167341555A>G | CA366425024 | TTLL2 | c.1655A>G (p.Gln552Arg) c.1436A>G (p.Gln479Arg) | dbSNP |
6 | g.167341555A>T | CA366425025 | TTLL2 | c.1655A>T (p.Gln552Leu) c.1436A>T (p.Gln479Leu) | |
6 | g.167341555_167341558delinsAAGC | CA1680342151 | TTLL2 | c.1655_1658delinsAAGC (p.Gln552=) c.1436_1439delinsAAGC (p.Gln479=) | |
6 | g.167341556A>C | CA366425027 | TTLL2 | c.1656A>C (p.Gln552His) c.1437A>C (p.Gln479His) | |
6 | g.167341556A>G | CA453091039 | TTLL2 | c.1656A>G (p.Gln552=) c.1437A>G (p.Gln479=) | gnomAD v4 |
6 | g.167341556A>T | CA366425028 | TTLL2 | c.1656A>T (p.Gln552His) c.1437A>T (p.Gln479His) | gnomAD v4 |
6 | g.167341558_167341560del | CA571943499 | TTLL2 | c.1658_1660del (p.Ala553del) c.1439_1441del (p.Ala480del) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341557G>A | CA366425029 | TTLL2 | c.1657G>A (p.Ala553Thr) c.1438G>A (p.Ala480Thr) | dbSNP |
6 | g.167341557G>C | CA366425030 | TTLL2 | c.1657G>C (p.Ala553Pro) c.1438G>C (p.Ala480Pro) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341557G= | CA1680342153 | TTLL2 | c.1657G= (p.Ala553=) c.1438G= (p.Ala480=) | |
6 | g.167341557G>T | CA366425031 | TTLL2 | c.1657G>T (p.Ala553Ser) c.1438G>T (p.Ala480Ser) | |
6 | g.167341560_167341563del | CA2681211448 | TTLL2 | c.1660_1663del (p.Gly554ThrfsTer20) c.1441_1444del (p.Gly481ThrfsTer20) | gnomAD v4 |
6 | g.167341558C>A | CA366425032 | TTLL2 | c.1658C>A (p.Ala553Glu) c.1439C>A (p.Ala480Glu) | |
6 | g.167341558C= | CA1680342154 | TTLL2 | c.1658C= (p.Ala553=) c.1439C= (p.Ala480=) | |
6 | g.167341558C>G | CA366425033 | TTLL2 | c.1658C>G (p.Ala553Gly) c.1439C>G (p.Ala480Gly) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341558C>T | CA366425034 | TTLL2 | c.1658C>T (p.Ala553Val) c.1439C>T (p.Ala480Val) | gnomAD v4 |
6 | g.167341558_167341559delinsCA | CA1680342155 | TTLL2 | c.1658_1659delinsCA (p.Ala553=) c.1439_1440delinsCA (p.Ala480=) | |
6 | g.167341559del | CA1680342157 | TTLL2 | c.1659del (p.Gly554AlafsTer21) c.1440del (p.Gly481AlafsTer21) | dbSNP |
6 | g.167341559A= | CA1680342156 | TTLL2 | c.1659A= (p.Ala553=) c.1440A= (p.Ala480=) | |
6 | g.167341559A>C | CA453091055 | TTLL2 | c.1659A>C (p.Ala553=) c.1440A>C (p.Ala480=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341559A>G | CA453091057 | TTLL2 | c.1659A>G (p.Ala553=) c.1440A>G (p.Ala480=) | |
6 | g.167341559A>T | CA453091060 | TTLL2 | c.1659A>T (p.Ala553=) c.1440A>T (p.Ala480=) | |
6 | g.167341560G>A | CA366425035 | TTLL2 | c.1660G>A (p.Gly554Ser) c.1441G>A (p.Gly481Ser) | COSMIC |
6 | g.167341560G>C | CA366425036 | TTLL2 | c.1660G>C (p.Gly554Arg) c.1441G>C (p.Gly481Arg) | |
6 | g.167341560G>T | CA366425037 | TTLL2 | c.1660G>T (p.Gly554Cys) c.1441G>T (p.Gly481Cys) | |
6 | g.167341561G>A | CA366425039 | TTLL2 | c.1661G>A (p.Gly554Asp) c.1442G>A (p.Gly481Asp) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341561G>C | CA366425040 | TTLL2 | c.1661G>C (p.Gly554Ala) c.1442G>C (p.Gly481Ala) | COSMIC |
6 | g.167341561G= | CA1680342158 | TTLL2 | c.1661G= (p.Gly554=) c.1442G= (p.Gly481=) | |
6 | g.167341561G>T | CA366425038 | TTLL2 | c.1661G>T (p.Gly554Val) c.1442G>T (p.Gly481Val) | |
6 | g.167341562C>A | CA453091075 | TTLL2 | c.1662C>A (p.Gly554=) c.1443C>A (p.Gly481=) | |
6 | g.167341562C>G | CA453091078 | TTLL2 | c.1662C>G (p.Gly554=) c.1443C>G (p.Gly481=) | |
6 | g.167341562C>T | CA453091081 | TTLL2 | c.1662C>T (p.Gly554=) c.1443C>T (p.Gly481=) | |
6 | g.167341563A= | CA1680342159 | TTLL2 | c.1663A= (p.Asn555=) c.1444A= (p.Asn482=) | |
6 | g.167341563A>C | CA366425041 | TTLL2 | c.1663A>C (p.Asn555His) c.1444A>C (p.Asn482His) | |
6 | g.167341563A>G | CA151970602 | TTLL2 | c.1663A>G (p.Asn555Asp) c.1444A>G (p.Asn482Asp) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341563A>T | CA4097586 | TTLL2 | c.1663A>T (p.Asn555Tyr) c.1444A>T (p.Asn482Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341564A>C | CA366425042 | TTLL2 | c.1664A>C (p.Asn555Thr) c.1445A>C (p.Asn482Thr) | gnomAD v4 |
6 | g.167341564A>G | CA366425043 | TTLL2 | c.1664A>G (p.Asn555Ser) c.1445A>G (p.Asn482Ser) | |
6 | g.167341564A>T | CA366425044 | TTLL2 | c.1664A>T (p.Asn555Ile) c.1445A>T (p.Asn482Ile) | |
6 | g.167341565C>A | CA366425045 | TTLL2 | c.1665C>A (p.Asn555Lys) c.1446C>A (p.Asn482Lys) | |
6 | g.167341565C>G | CA366425046 | TTLL2 | c.1665C>G (p.Asn555Lys) c.1446C>G (p.Asn482Lys) | |
6 | g.167341565C>T | CA453091097 | TTLL2 | c.1665C>T (p.Asn555=) c.1446C>T (p.Asn482=) | |
6 | g.167341566T>A | CA366425047 | TTLL2 | c.1666T>A (p.Phe556Ile) c.1447T>A (p.Phe483Ile) | |
6 | g.167341566T>C | CA366425048 | TTLL2 | c.1666T>C (p.Phe556Leu) c.1447T>C (p.Phe483Leu) | |
6 | g.167341566T>G | CA366425049 | TTLL2 | c.1666T>G (p.Phe556Val) c.1447T>G (p.Phe483Val) | |
6 | g.167341567T>A | CA151970626 | TTLL2 | c.1667T>A (p.Phe556Tyr) c.1448T>A (p.Phe483Tyr) | dbSNP |
6 | g.167341567T>C | CA366425050 | TTLL2 | c.1667T>C (p.Phe556Ser) c.1448T>C (p.Phe483Ser) | |
6 | g.167341567T>G | CA366425051 | TTLL2 | c.1667T>G (p.Phe556Cys) c.1448T>G (p.Phe483Cys) | |
6 | g.167341567T= | CA1680342160 | TTLL2 | c.1667T= (p.Phe556=) c.1448T= (p.Phe483=) | |
6 | g.167341568T>A | CA366425052 | TTLL2 | c.1668T>A (p.Phe556Leu) c.1449T>A (p.Phe483Leu) | |
6 | g.167341568T>C | CA453091108 | TTLL2 | c.1668T>C (p.Phe556=) c.1449T>C (p.Phe483=) | gnomAD v4 |
6 | g.167341568T>G | CA366425053 | TTLL2 | c.1668T>G (p.Phe556Leu) c.1449T>G (p.Phe483Leu) | |
6 | g.167341569G>A | CA366425054 | TTLL2 | c.1669G>A (p.Val557Ile) c.1450G>A (p.Val484Ile) | gnomAD v4 |
6 | g.167341569G>C | CA366425055 | TTLL2 | c.1669G>C (p.Val557Leu) c.1450G>C (p.Val484Leu) | |
6 | g.167341569G>T | CA366425056 | TTLL2 | c.1669G>T (p.Val557Phe) c.1450G>T (p.Val484Phe) | |
6 | g.167341570T>A | CA366425057 | TTLL2 | c.1670T>A (p.Val557Asp) c.1451T>A (p.Val484Asp) | |
6 | g.167341570T>C | CA366425058 | TTLL2 | c.1670T>C (p.Val557Ala) c.1451T>C (p.Val484Ala) | |
6 | g.167341570T>G | CA366425059 | TTLL2 | c.1670T>G (p.Val557Gly) c.1451T>G (p.Val484Gly) | |
6 | g.167341571T>A | CA453091122 | TTLL2 | c.1671T>A (p.Val557=) c.1452T>A (p.Val484=) | |
6 | g.167341571T>C | CA453091117 | TTLL2 | c.1671T>C (p.Val557=) c.1452T>C (p.Val484=) | |
6 | g.167341571T>G | CA453091121 | TTLL2 | c.1671T>G (p.Val557=) c.1452T>G (p.Val484=) | |
6 | g.167341572C>A | CA366425060 | TTLL2 | c.1672C>A (p.Leu558Ile) c.1453C>A (p.Leu485Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341572C= | CA1680342161 | TTLL2 | c.1672C= (p.Leu558=) c.1453C= (p.Leu485=) | |
6 | g.167341572C>G | CA366425061 | TTLL2 | c.1672C>G (p.Leu558Val) c.1453C>G (p.Leu485Val) | dbSNP gnomAD v4 |
6 | g.167341572C>T | CA366425062 | TTLL2 | c.1672C>T (p.Leu558Phe) c.1453C>T (p.Leu485Phe) |