Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.167341459C>ACA366424827TTLL2c.1559C>A (p.Thr520Lys)
c.1340C>A (p.Thr447Lys)
6g.167341459C=CA1680342113TTLL2c.1559C= (p.Thr520=)
c.1340C= (p.Thr447=)
6g.167341459C>GCA366424828TTLL2c.1559C>G (p.Thr520Arg)
c.1340C>G (p.Thr447Arg)
6g.167341459C>TCA4097559TTLL2c.1559C>T (p.Thr520Ile)
c.1340C>T (p.Thr447Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341460A=CA1680342114TTLL2c.1560A= (p.Thr520=)
c.1341A= (p.Thr447=)
6g.167341460A>CCA4097560TTLL2c.1560A>C (p.Thr520=)
c.1341A>C (p.Thr447=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341460A>GCA453305409TTLL2c.1560A>G (p.Thr520=)
c.1341A>G (p.Thr447=)
dbSNP
6g.167341460A>TCA453305410TTLL2c.1560A>T (p.Thr520=)
c.1341A>T (p.Thr447=)
6g.167341461C>ACA366424829TTLL2c.1561C>A (p.Leu521Ile)
c.1342C>A (p.Leu448Ile)
6g.167341461C=CA1680342115TTLL2c.1561C= (p.Leu521=)
c.1342C= (p.Leu448=)
6g.167341461C>GCA4097561TTLL2c.1561C>G (p.Leu521Val)
c.1342C>G (p.Leu448Val)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.167341461C>TCA4097562TTLL2c.1561C>T (p.Leu521Phe)
c.1342C>T (p.Leu448Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341462T>ACA366424830TTLL2c.1562T>A (p.Leu521His)
c.1343T>A (p.Leu448His)
6g.167341462T>CCA366424831TTLL2c.1562T>C (p.Leu521Pro)
c.1343T>C (p.Leu448Pro)
COSMIC
6g.167341462T>GCA366424832TTLL2c.1562T>G (p.Leu521Arg)
c.1343T>G (p.Leu448Arg)
6g.167341463C>ACA453305415TTLL2c.1563C>A (p.Leu521=)
c.1344C>A (p.Leu448=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.167341463C=CA1680342116TTLL2c.1563C= (p.Leu521=)
c.1344C= (p.Leu448=)
6g.167341463C>GCA453305416TTLL2c.1563C>G (p.Leu521=)
c.1344C>G (p.Leu448=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.167341463C>TCA453305417TTLL2c.1563C>T (p.Leu521=)
c.1344C>T (p.Leu448=)
6g.167341464A>CCA366424833TTLL2c.1564A>C (p.Met522Leu)
c.1345A>C (p.Met449Leu)
6g.167341464A>GCA366424834TTLL2c.1564A>G (p.Met522Val)
c.1345A>G (p.Met449Val)
gnomAD v4
6g.167341464A>TCA366424835TTLL2c.1564A>T (p.Met522Leu)
c.1345A>T (p.Met449Leu)
6g.167341465T>ACA366424836TTLL2c.1565T>A (p.Met522Lys)
c.1346T>A (p.Met449Lys)
6g.167341465T>CCA366424837TTLL2c.1565T>C (p.Met522Thr)
c.1346T>C (p.Met449Thr)
gnomAD v4
6g.167341465T>GCA366424838TTLL2c.1565T>G (p.Met522Arg)
c.1346T>G (p.Met449Arg)
6g.167341466G>ACA366424840TTLL2c.1566G>A (p.Met522Ile)
c.1347G>A (p.Met449Ile)
6g.167341466G>CCA366424841TTLL2c.1566G>C (p.Met522Ile)
c.1347G>C (p.Met449Ile)
6g.167341466G>TCA366424839TTLL2c.1566G>T (p.Met522Ile)
c.1347G>T (p.Met449Ile)
6g.167341467C>ACA366424842TTLL2c.1567C>A (p.Pro523Thr)
c.1348C>A (p.Pro450Thr)
6g.167341467C=CA1680342117TTLL2c.1567C= (p.Pro523=)
c.1348C= (p.Pro450=)
6g.167341467C>GCA366424843TTLL2c.1567C>G (p.Pro523Ala)
c.1348C>G (p.Pro450Ala)
6g.167341467C>TCA366424844TTLL2c.1567C>T (p.Pro523Ser)
c.1348C>T (p.Pro450Ser)
dbSNP gnomAD v2 gnomAD v4
6g.167341468C>ACA366424845TTLL2c.1568C>A (p.Pro523His)
c.1349C>A (p.Pro450His)
6g.167341468C>GCA366424846TTLL2c.1568C>G (p.Pro523Arg)
c.1349C>G (p.Pro450Arg)
6g.167341468C>TCA366424847TTLL2c.1568C>T (p.Pro523Leu)
c.1349C>T (p.Pro450Leu)
COSMIC
6g.167341469C>ACA453305419TTLL2c.1569C>A (p.Pro523=)
c.1350C>A (p.Pro450=)
6g.167341469C>GCA453305420TTLL2c.1569C>G (p.Pro523=)
c.1350C>G (p.Pro450=)
6g.167341469C>TCA453305421TTLL2c.1569C>T (p.Pro523=)
c.1350C>T (p.Pro450=)
gnomAD v4
6g.167341470T>ACA366424848TTLL2c.1570T>A (p.Tyr524Asn)
c.1351T>A (p.Tyr451Asn)
6g.167341470T>CCA366424849TTLL2c.1570T>C (p.Tyr524His)
c.1351T>C (p.Tyr451His)
6g.167341470T>GCA366424850TTLL2c.1570T>G (p.Tyr524Asp)
c.1351T>G (p.Tyr451Asp)
6g.167341471A>CCA366424851TTLL2c.1571A>C (p.Tyr524Ser)
c.1352A>C (p.Tyr451Ser)
6g.167341471A>GCA366424852TTLL2c.1571A>G (p.Tyr524Cys)
c.1352A>G (p.Tyr451Cys)
6g.167341471A>TCA366424853TTLL2c.1571A>T (p.Tyr524Phe)
c.1352A>T (p.Tyr451Phe)
6g.167341471dupCA913109887TTLL2c.1571dup (p.Tyr524Ter)
c.1352dup (p.Tyr451Ter)
gnomAD v4
6g.167341472C>ACA366424854TTLL2c.1572C>A (p.Tyr524Ter)
c.1353C>A (p.Tyr451Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.167341472C=CA1680342118TTLL2c.1572C= (p.Tyr524=)
c.1353C= (p.Tyr451=)
6g.167341472C>GCA366424855TTLL2c.1572C>G (p.Tyr524Ter)
c.1353C>G (p.Tyr451Ter)
6g.167341472C>TCA4097563TTLL2c.1572C>T (p.Tyr524=)
c.1353C>T (p.Tyr451=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341473G>ACA4097564TTLL2c.1573G>A (p.Ala525Thr)
c.1354G>A (p.Ala452Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341473G>CCA366424856TTLL2c.1573G>C (p.Ala525Pro)
c.1354G>C (p.Ala452Pro)
6g.167341473G=CA1680342119TTLL2c.1573G= (p.Ala525=)
c.1354G= (p.Ala452=)
6g.167341473G>TCA366424857TTLL2c.1573G>T (p.Ala525Ser)
c.1354G>T (p.Ala452Ser)
6g.167341474C>ACA366424858TTLL2c.1574C>A (p.Ala525Glu)
c.1355C>A (p.Ala452Glu)
6g.167341474C=CA1680342120TTLL2c.1574C= (p.Ala525=)
c.1355C= (p.Ala452=)
6g.167341474C>GCA366424859TTLL2c.1574C>G (p.Ala525Gly)
c.1355C>G (p.Ala452Gly)
6g.167341474C>TCA4097565TTLL2c.1574C>T (p.Ala525Val)
c.1355C>T (p.Ala452Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341475G>ACA4097566TTLL2c.1575G>A (p.Ala525=)
c.1356G>A (p.Ala452=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341475G>CCA453305424TTLL2c.1575G>C (p.Ala525=)
c.1356G>C (p.Ala452=)
6g.167341475G=CA1680342121TTLL2c.1575G= (p.Ala525=)
c.1356G= (p.Ala452=)
6g.167341475G>TCA453305425TTLL2c.1575G>T (p.Ala525=)
c.1356G>T (p.Ala452=)
6g.167341476T>ACA366424860TTLL2c.1576T>A (p.Ser526Thr)
c.1357T>A (p.Ser453Thr)
6g.167341476T>CCA366424861TTLL2c.1576T>C (p.Ser526Pro)
c.1357T>C (p.Ser453Pro)
6g.167341476T>GCA366424862TTLL2c.1576T>G (p.Ser526Ala)
c.1357T>G (p.Ser453Ala)
6g.167341477C>ACA366424863TTLL2c.1577C>A (p.Ser526Tyr)
c.1358C>A (p.Ser453Tyr)
6g.167341477C=CA1680342122TTLL2c.1577C= (p.Ser526=)
c.1358C= (p.Ser453=)
6g.167341477C>GCA366424864TTLL2c.1577C>G (p.Ser526Cys)
c.1358C>G (p.Ser453Cys)
6g.167341477C>TCA366424865TTLL2c.1577C>T (p.Ser526Phe)
c.1358C>T (p.Ser453Phe)
dbSNP gnomAD v3 gnomAD v4
6g.167341478C>ACA453305427TTLL2c.1578C>A (p.Ser526=)
c.1359C>A (p.Ser453=)
6g.167341478C=CA1680342123TTLL2c.1578C= (p.Ser526=)
c.1359C= (p.Ser453=)
6g.167341478C>GCA453305428TTLL2c.1578C>G (p.Ser526=)
c.1359C>G (p.Ser453=)
dbSNP
6g.167341478C>TCA4097567TTLL2c.1578C>T (p.Ser526=)
c.1359C>T (p.Ser453=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.167341479C>ACA366424867TTLL2c.1579C>A (p.Leu527Ile)
c.1360C>A (p.Leu454Ile)
6g.167341479C>GCA366424868TTLL2c.1579C>G (p.Leu527Val)
c.1360C>G (p.Leu454Val)
gnomAD v4
6g.167341479C>TCA366424866TTLL2c.1579C>T (p.Leu527Phe)
c.1360C>T (p.Leu454Phe)
gnomAD v4
6g.167341480T>ACA366424869TTLL2c.1580T>A (p.Leu527His)
c.1361T>A (p.Leu454His)
6g.167341480T>CCA366424871TTLL2c.1580T>C (p.Leu527Pro)
c.1361T>C (p.Leu454Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.167341480T>GCA366424870TTLL2c.1580T>G (p.Leu527Arg)
c.1361T>G (p.Leu454Arg)
6g.167341480T=CA1680342124TTLL2c.1580T= (p.Leu527=)
c.1361T= (p.Leu454=)
6g.167341481C>ACA453305432TTLL2c.1581C>A (p.Leu527=)
c.1362C>A (p.Leu454=)
6g.167341481C=CA1680342125TTLL2c.1581C= (p.Leu527=)
c.1362C= (p.Leu454=)
6g.167341481C>GCA4097568TTLL2c.1581C>G (p.Leu527=)
c.1362C>G (p.Leu454=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341481C>TCA453305431TTLL2c.1581C>T (p.Leu527=)
c.1362C>T (p.Leu454=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.167341482T>ACA366424874TTLL2c.1582T>A (p.Phe528Ile)
c.1363T>A (p.Phe455Ile)
6g.167341482T>CCA366424872TTLL2c.1582T>C (p.Phe528Leu)
c.1363T>C (p.Phe455Leu)
6g.167341482T>GCA366424873TTLL2c.1582T>G (p.Phe528Val)
c.1363T>G (p.Phe455Val)
6g.167341483T>ACA366424875TTLL2c.1583T>A (p.Phe528Tyr)
c.1364T>A (p.Phe455Tyr)
6g.167341483T>CCA366424876TTLL2c.1583T>C (p.Phe528Ser)
c.1364T>C (p.Phe455Ser)
gnomAD v4
6g.167341483T>GCA366424877TTLL2c.1583T>G (p.Phe528Cys)
c.1364T>G (p.Phe455Cys)
6g.167341484C>ACA366424878TTLL2c.1584C>A (p.Phe528Leu)
c.1365C>A (p.Phe455Leu)
6g.167341484C>GCA366424879TTLL2c.1584C>G (p.Phe528Leu)
c.1365C>G (p.Phe455Leu)
dbSNP
6g.167341484C>TCA453305434TTLL2c.1584C>T (p.Phe528=)
c.1365C>T (p.Phe455=)
6g.167341485C>ACA366424880TTLL2c.1585C>A (p.Gln529Lys)
c.1366C>A (p.Gln456Lys)
6g.167341485C>GCA366424881TTLL2c.1585C>G (p.Gln529Glu)
c.1366C>G (p.Gln456Glu)
6g.167341485C>TCA366424882TTLL2c.1585C>T (p.Gln529Ter)
c.1366C>T (p.Gln456Ter)
gnomAD v4
6g.167341486A>CCA366424885TTLL2c.1586A>C (p.Gln529Pro)
c.1367A>C (p.Gln456Pro)
6g.167341486A>GCA366424884TTLL2c.1586A>G (p.Gln529Arg)
c.1367A>G (p.Gln456Arg)
6g.167341486A>TCA366424883TTLL2c.1586A>T (p.Gln529Leu)
c.1367A>T (p.Gln456Leu)
gnomAD v4
6g.167341487G>ACA453305436TTLL2c.1587G>A (p.Gln529=)
c.1368G>A (p.Gln456=)
6g.167341487G>CCA366424886TTLL2c.1587G>C (p.Gln529His)
c.1368G>C (p.Gln456His)
dbSNP
6g.167341487G=CA1680342126TTLL2c.1587G= (p.Gln529=)
c.1368G= (p.Gln456=)
6g.167341487G>TCA4097569TTLL2c.1587G>T (p.Gln529His)
c.1368G>T (p.Gln456His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.167341488T>ACA366424887TTLL2c.1588T>A (p.Ser530Thr)
c.1369T>A (p.Ser457Thr)
6g.167341488T>CCA366424888TTLL2c.1588T>C (p.Ser530Pro)
c.1369T>C (p.Ser457Pro)
COSMIC
6g.167341488T>GCA366424889TTLL2c.1588T>G (p.Ser530Ala)
c.1369T>G (p.Ser457Ala)
6g.167341489C>ACA366424890TTLL2c.1589C>A (p.Ser530Ter)
c.1370C>A (p.Ser457Ter)
6g.167341489C=CA1680342127TTLL2c.1589C= (p.Ser530=)
c.1370C= (p.Ser457=)
6g.167341489C>GCA366424891TTLL2c.1589C>G (p.Ser530Trp)
c.1370C>G (p.Ser457Trp)
6g.167341489C>TCA4097570TTLL2c.1589C>T (p.Ser530Leu)
c.1370C>T (p.Ser457Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341490G>ACA4097571TTLL2c.1590G>A (p.Ser530=)
c.1371G>A (p.Ser457=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341490G>CCA453305439TTLL2c.1590G>C (p.Ser530=)
c.1371G>C (p.Ser457=)
gnomAD v4
6g.167341490G=CA1680342128TTLL2c.1590G= (p.Ser530=)
c.1371G= (p.Ser457=)
6g.167341490G>TCA453305440TTLL2c.1590G>T (p.Ser530=)
c.1371G>T (p.Ser457=)
gnomAD v4
6g.167341491C>ACA366424892TTLL2c.1591C>A (p.His531Asn)
c.1372C>A (p.His458Asn)
6g.167341491C>GCA366424893TTLL2c.1591C>G (p.His531Asp)
c.1372C>G (p.His458Asp)
6g.167341491C>TCA366424894TTLL2c.1591C>T (p.His531Tyr)
c.1372C>T (p.His458Tyr)
6g.167341492A>CCA366424896TTLL2c.1592A>C (p.His531Pro)
c.1373A>C (p.His458Pro)
6g.167341492A>GCA366424897TTLL2c.1592A>G (p.His531Arg)
c.1373A>G (p.His458Arg)
6g.167341492A>TCA366424895TTLL2c.1592A>T (p.His531Leu)
c.1373A>T (p.His458Leu)
gnomAD v4
6g.167341493C>ACA366424898TTLL2c.1593C>A (p.His531Gln)
c.1374C>A (p.His458Gln)
gnomAD v4
6g.167341493C>GCA366424899TTLL2c.1593C>G (p.His531Gln)
c.1374C>G (p.His458Gln)
gnomAD v4
6g.167341493C>TCA453305443TTLL2c.1593C>T (p.His531=)
c.1374C>T (p.His458=)
6g.167341494T>ACA366424900TTLL2c.1594T>A (p.Ser532Thr)
c.1375T>A (p.Ser459Thr)
6g.167341494T>CCA366424901TTLL2c.1594T>C (p.Ser532Pro)
c.1375T>C (p.Ser459Pro)
6g.167341494T>GCA366424902TTLL2c.1594T>G (p.Ser532Ala)
c.1375T>G (p.Ser459Ala)
6g.167341495C>ACA366424903TTLL2c.1595C>A (p.Ser532Tyr)
c.1376C>A (p.Ser459Tyr)
6g.167341495C=CA1680342129TTLL2c.1595C= (p.Ser532=)
c.1376C= (p.Ser459=)
6g.167341495C>GCA366424904TTLL2c.1595C>G (p.Ser532Cys)
c.1376C>G (p.Ser459Cys)
6g.167341495C>TCA4097572TTLL2c.1595C>T (p.Ser532Phe)
c.1376C>T (p.Ser459Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341496C>ACA453305445TTLL2c.1596C>A (p.Ser532=)
c.1377C>A (p.Ser459=)
6g.167341496C>GCA453305446TTLL2c.1596C>G (p.Ser532=)
c.1377C>G (p.Ser459=)
6g.167341496C>TCA453305447TTLL2c.1596C>T (p.Ser532=)
c.1377C>T (p.Ser459=)
6g.167341497T>ACA366424905TTLL2c.1597T>A (p.Cys533Ser)
c.1378T>A (p.Cys460Ser)
6g.167341497T>CCA366424906TTLL2c.1597T>C (p.Cys533Arg)
c.1378T>C (p.Cys460Arg)
6g.167341497T>GCA366424907TTLL2c.1597T>G (p.Cys533Gly)
c.1378T>G (p.Cys460Gly)
6g.167341498G>ACA151970548TTLL2c.1598G>A (p.Cys533Tyr)
c.1379G>A (p.Cys460Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.167341498G>CCA366424909TTLL2c.1598G>C (p.Cys533Ser)
c.1379G>C (p.Cys460Ser)
6g.167341498G=CA1680342130TTLL2c.1598G= (p.Cys533=)
c.1379G= (p.Cys460=)
6g.167341498G>TCA366424908TTLL2c.1598G>T (p.Cys533Phe)
c.1379G>T (p.Cys460Phe)
gnomAD v4
6g.167341499C>ACA4097573TTLL2c.1599C>A (p.Cys533Ter)
c.1380C>A (p.Cys460Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341499C=CA1680342131TTLL2c.1599C= (p.Cys533=)
c.1380C= (p.Cys460=)
6g.167341499C>GCA366424910TTLL2c.1599C>G (p.Cys533Trp)
c.1380C>G (p.Cys460Trp)
gnomAD v4
6g.167341499C>TCA453305451TTLL2c.1599C>T (p.Cys533=)
c.1380C>T (p.Cys460=)
dbSNP gnomAD v3 gnomAD v4
6g.167341500A>CCA366424911TTLL2c.1600A>C (p.Lys534Gln)
c.1381A>C (p.Lys461Gln)
6g.167341500A>GCA366424912TTLL2c.1600A>G (p.Lys534Glu)
c.1381A>G (p.Lys461Glu)
6g.167341500A>TCA366424913TTLL2c.1600A>T (p.Lys534Ter)
c.1381A>T (p.Lys461Ter)
6g.167341501A=CA1680342132TTLL2c.1601A= (p.Lys534=)
c.1382A= (p.Lys461=)
6g.167341501A>CCA366424915TTLL2c.1601A>C (p.Lys534Thr)
c.1382A>C (p.Lys461Thr)
6g.167341501A>GCA4097574TTLL2c.1601A>G (p.Lys534Arg)
c.1382A>G (p.Lys461Arg)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.167341501A>TCA366424914TTLL2c.1601A>T (p.Lys534Met)
c.1382A>T (p.Lys461Met)
6g.167341502G>ACA453305452TTLL2c.1602G>A (p.Lys534=)
c.1383G>A (p.Lys461=)
6g.167341502G>CCA151970562TTLL2c.1602G>C (p.Lys534Asn)
c.1383G>C (p.Lys461Asn)
dbSNP
6g.167341502G=CA1680342133TTLL2c.1602G= (p.Lys534=)
c.1383G= (p.Lys461=)
6g.167341502G>TCA366424916TTLL2c.1602G>T (p.Lys534Asn)
c.1383G>T (p.Lys461Asn)
gnomAD v4
6g.167341503A>CCA366424917TTLL2c.1603A>C (p.Thr535Pro)
c.1384A>C (p.Thr462Pro)
6g.167341503A>GCA366424918TTLL2c.1603A>G (p.Thr535Ala)
c.1384A>G (p.Thr462Ala)
6g.167341503A>TCA366424919TTLL2c.1603A>T (p.Thr535Ser)
c.1384A>T (p.Thr462Ser)
6g.167341504C>ACA366424922TTLL2c.1604C>A (p.Thr535Asn)
c.1385C>A (p.Thr462Asn)
gnomAD v4
6g.167341504C=CA1680342134TTLL2c.1604C= (p.Thr535=)
c.1385C= (p.Thr462=)
6g.167341504C>GCA366424921TTLL2c.1604C>G (p.Thr535Ser)
c.1385C>G (p.Thr462Ser)
6g.167341504C>TCA366424920TTLL2c.1604C>T (p.Thr535Ile)
c.1385C>T (p.Thr462Ile)
dbSNP gnomAD v3 gnomAD v4
6g.167341505C>ACA453305456TTLL2c.1605C>A (p.Thr535=)
c.1386C>A (p.Thr462=)
6g.167341505C>GCA453305457TTLL2c.1605C>G (p.Thr535=)
c.1386C>G (p.Thr462=)
6g.167341505C>TCA453305458TTLL2c.1605C>T (p.Thr535=)
c.1386C>T (p.Thr462=)
6g.167341506A>CCA366424923TTLL2c.1606A>C (p.Lys536Gln)
c.1387A>C (p.Lys463Gln)
6g.167341506A>GCA366424925TTLL2c.1606A>G (p.Lys536Glu)
c.1387A>G (p.Lys463Glu)
6g.167341506A>TCA366424924TTLL2c.1606A>T (p.Lys536Ter)
c.1387A>T (p.Lys463Ter)
6g.167341507A>CCA366424926TTLL2c.1607A>C (p.Lys536Thr)
c.1388A>C (p.Lys463Thr)
6g.167341507A>GCA366424927TTLL2c.1607A>G (p.Lys536Arg)
c.1388A>G (p.Lys463Arg)
6g.167341507A>TCA366424928TTLL2c.1607A>T (p.Lys536Met)
c.1388A>T (p.Lys463Met)
6g.167341508G>ACA453305462TTLL2c.1608G>A (p.Lys536=)
c.1389G>A (p.Lys463=)
6g.167341508G>CCA366424929TTLL2c.1608G>C (p.Lys536Asn)
c.1389G>C (p.Lys463Asn)
6g.167341508G>TCA366424930TTLL2c.1608G>T (p.Lys536Asn)
c.1389G>T (p.Lys463Asn)
COSMIC
6g.167341509A>CCA366424931TTLL2c.1609A>C (p.Thr537Pro)
c.1390A>C (p.Thr464Pro)
6g.167341509A>GCA366424932TTLL2c.1609A>G (p.Thr537Ala)
c.1390A>G (p.Thr464Ala)
6g.167341509A>TCA366424933TTLL2c.1609A>T (p.Thr537Ser)
c.1390A>T (p.Thr464Ser)
6g.167341510C>ACA366424934TTLL2c.1610C>A (p.Thr537Asn)
c.1391C>A (p.Thr464Asn)
6g.167341510C>GCA366424935TTLL2c.1610C>G (p.Thr537Ser)
c.1391C>G (p.Thr464Ser)
gnomAD v4
6g.167341510C>TCA366424936TTLL2c.1610C>T (p.Thr537Ile)
c.1391C>T (p.Thr464Ile)
gnomAD v4
6g.167341511C>ACA453305463TTLL2c.1611C>A (p.Thr537=)
c.1392C>A (p.Thr464=)
dbSNP
6g.167341511C>GCA453305464TTLL2c.1611C>G (p.Thr537=)
c.1392C>G (p.Thr464=)
6g.167341511C>TCA453305465TTLL2c.1611C>T (p.Thr537=)
c.1392C>T (p.Thr464=)
gnomAD v4
6g.167341512T>ACA366424939TTLL2c.1612T>A (p.Ser538Thr)
c.1393T>A (p.Ser465Thr)
6g.167341512T>CCA366424937TTLL2c.1612T>C (p.Ser538Pro)
c.1393T>C (p.Ser465Pro)
6g.167341512T>GCA366424938TTLL2c.1612T>G (p.Ser538Ala)
c.1393T>G (p.Ser465Ala)
6g.167341512_167341513delinsTCCA1680342135TTLL2c.1612_1613delinsTC (p.Ser538=)
c.1393_1394delinsTC (p.Ser465=)
6g.167341513C>ACA366424940TTLL2c.1613C>A (p.Ser538Tyr)
c.1394C>A (p.Ser465Tyr)
dbSNP gnomAD v2
6g.167341513C=CA1680342136TTLL2c.1613C= (p.Ser538=)
c.1394C= (p.Ser465=)
6g.167341513C>GCA366424941TTLL2c.1613C>G (p.Ser538Cys)
c.1394C>G (p.Ser465Cys)
6g.167341513C>TCA366424942TTLL2c.1613C>T (p.Ser538Phe)
c.1394C>T (p.Ser465Phe)
dbSNP gnomAD v2 gnomAD v4
6g.167341516delCA572350553TTLL2c.1616del (p.Pro539ArgfsTer?)
c.1397del (p.Pro466ArgfsTer?)
dbSNP gnomAD v2 gnomAD v4
6g.167341514C>ACA453305467TTLL2c.1614C>A (p.Ser538=)
c.1395C>A (p.Ser465=)
6g.167341514C>GCA453305468TTLL2c.1614C>G (p.Ser538=)
c.1395C>G (p.Ser465=)
6g.167341514C>TCA453305469TTLL2c.1614C>T (p.Ser538=)
c.1395C>T (p.Ser465=)
6g.167341515C>ACA366424943TTLL2c.1615C>A (p.Pro539Thr)
c.1396C>A (p.Pro466Thr)
6g.167341515C=CA1680342137TTLL2c.1615C= (p.Pro539=)
c.1396C= (p.Pro466=)
6g.167341515C>GCA366424944TTLL2c.1615C>G (p.Pro539Ala)
c.1396C>G (p.Pro466Ala)
6g.167341515C>TCA366424945TTLL2c.1615C>T (p.Pro539Ser)
c.1396C>T (p.Pro466Ser)
dbSNP gnomAD v2 gnomAD v4
6g.167341516C>ACA4097575TTLL2c.1616C>A (p.Pro539Gln)
c.1397C>A (p.Pro466Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341516C=CA1680342138TTLL2c.1616C= (p.Pro539=)
c.1397C= (p.Pro466=)
6g.167341516C>GCA366424946TTLL2c.1616C>G (p.Pro539Arg)
c.1397C>G (p.Pro466Arg)
6g.167341516C>TCA4097576TTLL2c.1616C>T (p.Pro539Leu)
c.1397C>T (p.Pro466Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.167341517G>ACA4097577TTLL2c.1617G>A (p.Pro539=)
c.1398G>A (p.Pro466=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.167341517G>CCA453090813TTLL2c.1617G>C (p.Pro539=)
c.1398G>C (p.Pro466=)
6g.167341517G=CA1680342139TTLL2c.1617G= (p.Pro539=)
c.1398G= (p.Pro466=)
6g.167341517G>TCA453090816TTLL2c.1617G>T (p.Pro539=)
c.1398G>T (p.Pro466=)
6g.167341521_167341522dupCA571943498TTLL2c.1621_1622dup (p.Leu542SerfsTer?)
c.1402_1403dup (p.Leu469SerfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.167341518T>ACA366424947TTLL2c.1618T>A (p.Cys540Ser)
c.1399T>A (p.Cys467Ser)
6g.167341518T>CCA366424948TTLL2c.1618T>C (p.Cys540Arg)
c.1399T>C (p.Cys467Arg)
6g.167341518T>GCA4097578TTLL2c.1618T>G (p.Cys540Gly)
c.1399T>G (p.Cys467Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341518T=CA1680342140TTLL2c.1618T= (p.Cys540=)
c.1399T= (p.Cys467=)
6g.167341519G>ACA366424949TTLL2c.1619G>A (p.Cys540Tyr)
c.1400G>A (p.Cys467Tyr)
gnomAD v4
6g.167341519G>CCA366424950TTLL2c.1619G>C (p.Cys540Ser)
c.1400G>C (p.Cys467Ser)
6g.167341519G>TCA366424951TTLL2c.1619G>T (p.Cys540Phe)
c.1400G>T (p.Cys467Phe)
gnomAD v4
6g.167341520T>ACA366424952TTLL2c.1620T>A (p.Cys540Ter)
c.1401T>A (p.Cys467Ter)
6g.167341520T>CCA453090841TTLL2c.1620T>C (p.Cys540=)
c.1401T>C (p.Cys467=)
gnomAD v4
6g.167341520T>GCA366424953TTLL2c.1620T>G (p.Cys540Trp)
c.1401T>G (p.Cys467Trp)
6g.167341521G>ACA366424956TTLL2c.1621G>A (p.Val541Ile)
c.1402G>A (p.Val468Ile)
gnomAD v4
6g.167341521G>CCA366424955TTLL2c.1621G>C (p.Val541Leu)
c.1402G>C (p.Val468Leu)
6g.167341521G>TCA366424954TTLL2c.1621G>T (p.Val541Phe)
c.1402G>T (p.Val468Phe)
6g.167341522T>ACA366424957TTLL2c.1622T>A (p.Val541Asp)
c.1403T>A (p.Val468Asp)
6g.167341522T>CCA366424958TTLL2c.1622T>C (p.Val541Ala)
c.1403T>C (p.Val468Ala)
6g.167341522T>GCA366424959TTLL2c.1622T>G (p.Val541Gly)
c.1403T>G (p.Val468Gly)
6g.167341523C>ACA4097579TTLL2c.1623C>A (p.Val541=)
c.1404C>A (p.Val468=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341523C=CA1680342141TTLL2c.1623C= (p.Val541=)
c.1404C= (p.Val468=)
6g.167341523C>GCA453090857TTLL2c.1623C>G (p.Val541=)
c.1404C>G (p.Val468=)
6g.167341523C>TCA453090859TTLL2c.1623C>T (p.Val541=)
c.1404C>T (p.Val468=)
6g.167341524C>ACA366424960TTLL2c.1624C>A (p.Leu542Met)
c.1405C>A (p.Leu469Met)
6g.167341524C>GCA366424961TTLL2c.1624C>G (p.Leu542Val)
c.1405C>G (p.Leu469Val)
6g.167341524C>TCA453090867TTLL2c.1624C>T (p.Leu542=)
c.1405C>T (p.Leu469=)
COSMIC
6g.167341525T>ACA366424962TTLL2c.1625T>A (p.Leu542Gln)
c.1406T>A (p.Leu469Gln)
6g.167341525T>CCA366424964TTLL2c.1625T>C (p.Leu542Pro)
c.1406T>C (p.Leu469Pro)
dbSNP gnomAD v3 gnomAD v4
6g.167341525T>GCA366424963TTLL2c.1625T>G (p.Leu542Arg)
c.1406T>G (p.Leu469Arg)
6g.167341525T=CA1680342142TTLL2c.1625T= (p.Leu542=)
c.1406T= (p.Leu469=)
6g.167341526G>ACA453090878TTLL2c.1626G>A (p.Leu542=)
c.1407G>A (p.Leu469=)
6g.167341526G>CCA453090879TTLL2c.1626G>C (p.Leu542=)
c.1407G>C (p.Leu469=)
dbSNP COSMIC
6g.167341526G>TCA453090880TTLL2c.1626G>T (p.Leu542=)
c.1407G>T (p.Leu469=)
6g.167341527T>ACA366424965TTLL2c.1627T>A (p.Ser543Thr)
c.1408T>A (p.Ser470Thr)
6g.167341527T>CCA366424966TTLL2c.1627T>C (p.Ser543Pro)
c.1408T>C (p.Ser470Pro)
6g.167341527T>GCA366424967TTLL2c.1627T>G (p.Ser543Ala)
c.1408T>G (p.Ser470Ala)
6g.167341528C>ACA366424968TTLL2c.1628C>A (p.Ser543Ter)
c.1409C>A (p.Ser470Ter)
6g.167341528C>GCA366424969TTLL2c.1628C>G (p.Ser543Ter)
c.1409C>G (p.Ser470Ter)
6g.167341528C>TCA366424970TTLL2c.1628C>T (p.Ser543Leu)
c.1409C>T (p.Ser470Leu)
6g.167341529A>CCA453090882TTLL2c.1629A>C (p.Ser543=)
c.1410A>C (p.Ser470=)
6g.167341529A>GCA453090881TTLL2c.1629A>G (p.Ser543=)
c.1410A>G (p.Ser470=)
6g.167341529A>TCA453090883TTLL2c.1629A>T (p.Ser543=)
c.1410A>T (p.Ser470=)
6g.167341530G>ACA366424971TTLL2c.1630G>A (p.Asp544Asn)
c.1411G>A (p.Asp471Asn)
6g.167341530G>CCA366424972TTLL2c.1630G>C (p.Asp544His)
c.1411G>C (p.Asp471His)
6g.167341530G>TCA366424973TTLL2c.1630G>T (p.Asp544Tyr)
c.1411G>T (p.Asp471Tyr)
6g.167341531A>CCA366424974TTLL2c.1631A>C (p.Asp544Ala)
c.1412A>C (p.Asp471Ala)
6g.167341531A>GCA366424975TTLL2c.1631A>G (p.Asp544Gly)
c.1412A>G (p.Asp471Gly)
6g.167341531A>TCA366424976TTLL2c.1631A>T (p.Asp544Val)
c.1412A>T (p.Asp471Val)
6g.167341532C>ACA366424977TTLL2c.1632C>A (p.Asp544Glu)
c.1413C>A (p.Asp471Glu)
6g.167341532C=CA1680342143TTLL2c.1632C= (p.Asp544=)
c.1413C= (p.Asp471=)
6g.167341532C>GCA366424978TTLL2c.1632C>G (p.Asp544Glu)
c.1413C>G (p.Asp471Glu)
6g.167341532C>TCA4097580TTLL2c.1632C>T (p.Asp544=)
c.1413C>T (p.Asp471=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341533C>ACA4097582TTLL2c.1633C>A (p.Arg545Ser)
c.1414C>A (p.Arg472Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.167341533C=CA1680342144TTLL2c.1633C= (p.Arg545=)
c.1414C= (p.Arg472=)
6g.167341533C>GCA366424979TTLL2c.1633C>G (p.Arg545Gly)
c.1414C>G (p.Arg472Gly)
gnomAD v4
6g.167341533C>TCA4097581TTLL2c.1633C>T (p.Arg545Cys)
c.1414C>T (p.Arg472Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341534G>ACA4097583TTLL2c.1634G>A (p.Arg545His)
c.1415G>A (p.Arg472His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341534G>CCA366424980TTLL2c.1634G>C (p.Arg545Pro)
c.1415G>C (p.Arg472Pro)
6g.167341534G=CA1680342145TTLL2c.1634G= (p.Arg545=)
c.1415G= (p.Arg472=)
6g.167341534G>TCA4097584TTLL2c.1634G>T (p.Arg545Leu)
c.1415G>T (p.Arg472Leu)
dbSNP ExAC
6g.167341535T>ACA453090897TTLL2c.1635T>A (p.Arg545=)
c.1416T>A (p.Arg472=)
6g.167341535T>CCA453090900TTLL2c.1635T>C (p.Arg545=)
c.1416T>C (p.Arg472=)
dbSNP gnomAD v4
6g.167341535T>GCA151970585TTLL2c.1635T>G (p.Arg545=)
c.1416T>G (p.Arg472=)
dbSNP gnomAD v4
6g.167341535T=CA1680342146TTLL2c.1635T= (p.Arg545=)
c.1416T= (p.Arg472=)
6g.167341536G>ACA366424981TTLL2c.1636G>A (p.Gly546Ser)
c.1417G>A (p.Gly473Ser)
dbSNP gnomAD v2 gnomAD v4
6g.167341536G>CCA366424983TTLL2c.1636G>C (p.Gly546Arg)
c.1417G>C (p.Gly473Arg)
6g.167341536G=CA1680342147TTLL2c.1636G= (p.Gly546=)
c.1417G= (p.Gly473=)
6g.167341536G>TCA366424982TTLL2c.1636G>T (p.Gly546Cys)
c.1417G>T (p.Gly473Cys)
6g.167341537G>ACA366424984TTLL2c.1637G>A (p.Gly546Asp)
c.1418G>A (p.Gly473Asp)
6g.167341537G>CCA366424985TTLL2c.1637G>C (p.Gly546Ala)
c.1418G>C (p.Gly473Ala)
6g.167341537G>TCA366424986TTLL2c.1637G>T (p.Gly546Val)
c.1418G>T (p.Gly473Val)
6g.167341538C>ACA453090914TTLL2c.1638C>A (p.Gly546=)
c.1419C>A (p.Gly473=)
6g.167341538C>GCA453090916TTLL2c.1638C>G (p.Gly546=)
c.1419C>G (p.Gly473=)
6g.167341538C>TCA453090917TTLL2c.1638C>T (p.Gly546=)
c.1419C>T (p.Gly473=)
6g.167341539A>CCA366424987TTLL2c.1639A>C (p.Lys547Gln)
c.1420A>C (p.Lys474Gln)
6g.167341539A>GCA366424988TTLL2c.1639A>G (p.Lys547Glu)
c.1420A>G (p.Lys474Glu)
6g.167341539A>TCA366424989TTLL2c.1639A>T (p.Lys547Ter)
c.1420A>T (p.Lys474Ter)
6g.167341540A>CCA366424990TTLL2c.1640A>C (p.Lys547Thr)
c.1421A>C (p.Lys474Thr)
6g.167341540A>GCA366424991TTLL2c.1640A>G (p.Lys547Arg)
c.1421A>G (p.Lys474Arg)
6g.167341540A>TCA366424992TTLL2c.1640A>T (p.Lys547Ile)
c.1421A>T (p.Lys474Ile)
6g.167341541A>CCA366424993TTLL2c.1641A>C (p.Lys547Asn)
c.1422A>C (p.Lys474Asn)
6g.167341541A>GCA453090933TTLL2c.1641A>G (p.Lys547=)
c.1422A>G (p.Lys474=)
gnomAD v4
6g.167341541A>TCA366424994TTLL2c.1641A>T (p.Lys547Asn)
c.1422A>T (p.Lys474Asn)
6g.167341541_167341542delinsAGCA1680342148TTLL2c.1641_1642delinsAG (p.Lys547=)
c.1422_1423delinsAG (p.Lys474=)
6g.167341542delCA151970592TTLL2c.1642del (p.Ala548LeufsTer27)
c.1423del (p.Ala475LeufsTer27)
dbSNP
6g.167341542G>ACA366424997TTLL2c.1642G>A (p.Ala548Thr)
c.1423G>A (p.Ala475Thr)
dbSNP COSMIC
6g.167341542G>CCA366424996TTLL2c.1642G>C (p.Ala548Pro)
c.1423G>C (p.Ala475Pro)
6g.167341542G=CA1680342149TTLL2c.1642G= (p.Ala548=)
c.1423G= (p.Ala475=)
6g.167341542G>TCA366424995TTLL2c.1642G>T (p.Ala548Ser)
c.1423G>T (p.Ala475Ser)
dbSNP
6g.167341543C>ACA366424998TTLL2c.1643C>A (p.Ala548Asp)
c.1424C>A (p.Ala475Asp)
6g.167341543C>GCA366424999TTLL2c.1643C>G (p.Ala548Gly)
c.1424C>G (p.Ala475Gly)
6g.167341543C>TCA366425000TTLL2c.1643C>T (p.Ala548Val)
c.1424C>T (p.Ala475Val)
6g.167341544T>ACA453090952TTLL2c.1644T>A (p.Ala548=)
c.1425T>A (p.Ala475=)
6g.167341544T>CCA4097585TTLL2c.1644T>C (p.Ala548=)
c.1425T>C (p.Ala475=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341544T>GCA453090948TTLL2c.1644T>G (p.Ala548=)
c.1425T>G (p.Ala475=)
6g.167341544T=CA1680342150TTLL2c.1644T= (p.Ala548=)
c.1425T= (p.Ala475=)
6g.167341545C>ACA366425001TTLL2c.1645C>A (p.Pro549Thr)
c.1426C>A (p.Pro476Thr)
6g.167341545C>GCA366425002TTLL2c.1645C>G (p.Pro549Ala)
c.1426C>G (p.Pro476Ala)
6g.167341545C>TCA366425003TTLL2c.1645C>T (p.Pro549Ser)
c.1426C>T (p.Pro476Ser)
6g.167341546C>ACA366425004TTLL2c.1646C>A (p.Pro549Gln)
c.1427C>A (p.Pro476Gln)
6g.167341546C>GCA366425005TTLL2c.1646C>G (p.Pro549Arg)
c.1427C>G (p.Pro476Arg)
6g.167341546C>TCA366425006TTLL2c.1646C>T (p.Pro549Leu)
c.1427C>T (p.Pro476Leu)
6g.167341547A>CCA453090970TTLL2c.1647A>C (p.Pro549=)
c.1428A>C (p.Pro476=)
6g.167341547A>GCA453090973TTLL2c.1647A>G (p.Pro549=)
c.1428A>G (p.Pro476=)
6g.167341547A>TCA453090976TTLL2c.1647A>T (p.Pro549=)
c.1428A>T (p.Pro476=)
6g.167341548G>ACA366425007TTLL2c.1648G>A (p.Asp550Asn)
c.1429G>A (p.Asp477Asn)
COSMIC
6g.167341548G>CCA366425008TTLL2c.1648G>C (p.Asp550His)
c.1429G>C (p.Asp477His)
6g.167341548G>TCA366425009TTLL2c.1648G>T (p.Asp550Tyr)
c.1429G>T (p.Asp477Tyr)
COSMIC
6g.167341549A>CCA366425011TTLL2c.1649A>C (p.Asp550Ala)
c.1430A>C (p.Asp477Ala)
6g.167341549A>GCA366425012TTLL2c.1649A>G (p.Asp550Gly)
c.1430A>G (p.Asp477Gly)
6g.167341549A>TCA366425010TTLL2c.1649A>T (p.Asp550Val)
c.1430A>T (p.Asp477Val)
6g.167341550T>ACA366425013TTLL2c.1650T>A (p.Asp550Glu)
c.1431T>A (p.Asp477Glu)
6g.167341550T>CCA453090993TTLL2c.1650T>C (p.Asp550=)
c.1431T>C (p.Asp477=)
6g.167341550T>GCA366425014TTLL2c.1650T>G (p.Asp550Glu)
c.1431T>G (p.Asp477Glu)
6g.167341551C>ACA366425015TTLL2c.1651C>A (p.Pro551Thr)
c.1432C>A (p.Pro478Thr)
6g.167341551C>GCA366425016TTLL2c.1651C>G (p.Pro551Ala)
c.1432C>G (p.Pro478Ala)
6g.167341551C>TCA366425017TTLL2c.1651C>T (p.Pro551Ser)
c.1432C>T (p.Pro478Ser)
6g.167341552C>ACA366425018TTLL2c.1652C>A (p.Pro551His)
c.1433C>A (p.Pro478His)
6g.167341552C>GCA366425019TTLL2c.1652C>G (p.Pro551Arg)
c.1433C>G (p.Pro478Arg)
6g.167341552C>TCA366425020TTLL2c.1652C>T (p.Pro551Leu)
c.1433C>T (p.Pro478Leu)
6g.167341553C>ACA453091007TTLL2c.1653C>A (p.Pro551=)
c.1434C>A (p.Pro478=)
6g.167341553C>GCA453091010TTLL2c.1653C>G (p.Pro551=)
c.1434C>G (p.Pro478=)
6g.167341553C>TCA453091012TTLL2c.1653C>T (p.Pro551=)
c.1434C>T (p.Pro478=)
6g.167341554C>ACA366425021TTLL2c.1654C>A (p.Gln552Lys)
c.1435C>A (p.Gln479Lys)
COSMIC
6g.167341554C>GCA366425022TTLL2c.1654C>G (p.Gln552Glu)
c.1435C>G (p.Gln479Glu)
6g.167341554C>TCA366425023TTLL2c.1654C>T (p.Gln552Ter)
c.1435C>T (p.Gln479Ter)
6g.167341555A=CA1680342152TTLL2c.1655A= (p.Gln552=)
c.1436A= (p.Gln479=)
6g.167341555A>CCA366425026TTLL2c.1655A>C (p.Gln552Pro)
c.1436A>C (p.Gln479Pro)
6g.167341555A>GCA366425024TTLL2c.1655A>G (p.Gln552Arg)
c.1436A>G (p.Gln479Arg)
dbSNP
6g.167341555A>TCA366425025TTLL2c.1655A>T (p.Gln552Leu)
c.1436A>T (p.Gln479Leu)
6g.167341555_167341558delinsAAGCCA1680342151TTLL2c.1655_1658delinsAAGC (p.Gln552=)
c.1436_1439delinsAAGC (p.Gln479=)
6g.167341556A>CCA366425027TTLL2c.1656A>C (p.Gln552His)
c.1437A>C (p.Gln479His)
6g.167341556A>GCA453091039TTLL2c.1656A>G (p.Gln552=)
c.1437A>G (p.Gln479=)
gnomAD v4
6g.167341556A>TCA366425028TTLL2c.1656A>T (p.Gln552His)
c.1437A>T (p.Gln479His)
gnomAD v4
6g.167341558_167341560delCA571943499TTLL2c.1658_1660del (p.Ala553del)
c.1439_1441del (p.Ala480del)
dbSNP gnomAD v2 gnomAD v4
6g.167341557G>ACA366425029TTLL2c.1657G>A (p.Ala553Thr)
c.1438G>A (p.Ala480Thr)
dbSNP
6g.167341557G>CCA366425030TTLL2c.1657G>C (p.Ala553Pro)
c.1438G>C (p.Ala480Pro)
dbSNP gnomAD v2 gnomAD v4
6g.167341557G=CA1680342153TTLL2c.1657G= (p.Ala553=)
c.1438G= (p.Ala480=)
6g.167341557G>TCA366425031TTLL2c.1657G>T (p.Ala553Ser)
c.1438G>T (p.Ala480Ser)
6g.167341560_167341563delCA2681211448TTLL2c.1660_1663del (p.Gly554ThrfsTer20)
c.1441_1444del (p.Gly481ThrfsTer20)
gnomAD v4
6g.167341558C>ACA366425032TTLL2c.1658C>A (p.Ala553Glu)
c.1439C>A (p.Ala480Glu)
6g.167341558C=CA1680342154TTLL2c.1658C= (p.Ala553=)
c.1439C= (p.Ala480=)
6g.167341558C>GCA366425033TTLL2c.1658C>G (p.Ala553Gly)
c.1439C>G (p.Ala480Gly)
dbSNP gnomAD v3 gnomAD v4
6g.167341558C>TCA366425034TTLL2c.1658C>T (p.Ala553Val)
c.1439C>T (p.Ala480Val)
gnomAD v4
6g.167341558_167341559delinsCACA1680342155TTLL2c.1658_1659delinsCA (p.Ala553=)
c.1439_1440delinsCA (p.Ala480=)
6g.167341559delCA1680342157TTLL2c.1659del (p.Gly554AlafsTer21)
c.1440del (p.Gly481AlafsTer21)
dbSNP
6g.167341559A=CA1680342156TTLL2c.1659A= (p.Ala553=)
c.1440A= (p.Ala480=)
6g.167341559A>CCA453091055TTLL2c.1659A>C (p.Ala553=)
c.1440A>C (p.Ala480=)
dbSNP gnomAD v3 gnomAD v4
6g.167341559A>GCA453091057TTLL2c.1659A>G (p.Ala553=)
c.1440A>G (p.Ala480=)
6g.167341559A>TCA453091060TTLL2c.1659A>T (p.Ala553=)
c.1440A>T (p.Ala480=)

Number of alleles fetched