Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
6g.167341560G>ACA366425035TTLL2c.1660G>A (p.Gly554Ser)
c.1441G>A (p.Gly481Ser)
COSMIC
6g.167341560G>CCA366425036TTLL2c.1660G>C (p.Gly554Arg)
c.1441G>C (p.Gly481Arg)
6g.167341560G>TCA366425037TTLL2c.1660G>T (p.Gly554Cys)
c.1441G>T (p.Gly481Cys)
6g.167341561G>ACA366425039TTLL2c.1661G>A (p.Gly554Asp)
c.1442G>A (p.Gly481Asp)
dbSNP gnomAD v2 gnomAD v4
6g.167341561G>CCA366425040TTLL2c.1661G>C (p.Gly554Ala)
c.1442G>C (p.Gly481Ala)
COSMIC
6g.167341561G=CA1680342158TTLL2c.1661G= (p.Gly554=)
c.1442G= (p.Gly481=)
6g.167341561G>TCA366425038TTLL2c.1661G>T (p.Gly554Val)
c.1442G>T (p.Gly481Val)
6g.167341562C>ACA453091075TTLL2c.1662C>A (p.Gly554=)
c.1443C>A (p.Gly481=)
6g.167341562C>GCA453091078TTLL2c.1662C>G (p.Gly554=)
c.1443C>G (p.Gly481=)
6g.167341562C>TCA453091081TTLL2c.1662C>T (p.Gly554=)
c.1443C>T (p.Gly481=)
6g.167341563A=CA1680342159TTLL2c.1663A= (p.Asn555=)
c.1444A= (p.Asn482=)
6g.167341563A>CCA366425041TTLL2c.1663A>C (p.Asn555His)
c.1444A>C (p.Asn482His)
6g.167341563A>GCA151970602TTLL2c.1663A>G (p.Asn555Asp)
c.1444A>G (p.Asn482Asp)
dbSNP gnomAD v3 gnomAD v4
6g.167341563A>TCA4097586TTLL2c.1663A>T (p.Asn555Tyr)
c.1444A>T (p.Asn482Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.167341564A>CCA366425042TTLL2c.1664A>C (p.Asn555Thr)
c.1445A>C (p.Asn482Thr)
gnomAD v4
6g.167341564A>GCA366425043TTLL2c.1664A>G (p.Asn555Ser)
c.1445A>G (p.Asn482Ser)
6g.167341564A>TCA366425044TTLL2c.1664A>T (p.Asn555Ile)
c.1445A>T (p.Asn482Ile)
6g.167341565C>ACA366425045TTLL2c.1665C>A (p.Asn555Lys)
c.1446C>A (p.Asn482Lys)
6g.167341565C>GCA366425046TTLL2c.1665C>G (p.Asn555Lys)
c.1446C>G (p.Asn482Lys)
6g.167341565C>TCA453091097TTLL2c.1665C>T (p.Asn555=)
c.1446C>T (p.Asn482=)
6g.167341566T>ACA366425047TTLL2c.1666T>A (p.Phe556Ile)
c.1447T>A (p.Phe483Ile)
6g.167341566T>CCA366425048TTLL2c.1666T>C (p.Phe556Leu)
c.1447T>C (p.Phe483Leu)
6g.167341566T>GCA366425049TTLL2c.1666T>G (p.Phe556Val)
c.1447T>G (p.Phe483Val)
6g.167341567T>ACA151970626TTLL2c.1667T>A (p.Phe556Tyr)
c.1448T>A (p.Phe483Tyr)
dbSNP
6g.167341567T>CCA366425050TTLL2c.1667T>C (p.Phe556Ser)
c.1448T>C (p.Phe483Ser)
6g.167341567T>GCA366425051TTLL2c.1667T>G (p.Phe556Cys)
c.1448T>G (p.Phe483Cys)
6g.167341567T=CA1680342160TTLL2c.1667T= (p.Phe556=)
c.1448T= (p.Phe483=)
6g.167341568T>ACA366425052TTLL2c.1668T>A (p.Phe556Leu)
c.1449T>A (p.Phe483Leu)
6g.167341568T>CCA453091108TTLL2c.1668T>C (p.Phe556=)
c.1449T>C (p.Phe483=)
gnomAD v4
6g.167341568T>GCA366425053TTLL2c.1668T>G (p.Phe556Leu)
c.1449T>G (p.Phe483Leu)
6g.167341569G>ACA366425054TTLL2c.1669G>A (p.Val557Ile)
c.1450G>A (p.Val484Ile)
gnomAD v4
6g.167341569G>CCA366425055TTLL2c.1669G>C (p.Val557Leu)
c.1450G>C (p.Val484Leu)
6g.167341569G>TCA366425056TTLL2c.1669G>T (p.Val557Phe)
c.1450G>T (p.Val484Phe)
6g.167341570T>ACA366425057TTLL2c.1670T>A (p.Val557Asp)
c.1451T>A (p.Val484Asp)
6g.167341570T>CCA366425058TTLL2c.1670T>C (p.Val557Ala)
c.1451T>C (p.Val484Ala)
6g.167341570T>GCA366425059TTLL2c.1670T>G (p.Val557Gly)
c.1451T>G (p.Val484Gly)
6g.167341571T>ACA453091122TTLL2c.1671T>A (p.Val557=)
c.1452T>A (p.Val484=)
6g.167341571T>CCA453091117TTLL2c.1671T>C (p.Val557=)
c.1452T>C (p.Val484=)
6g.167341571T>GCA453091121TTLL2c.1671T>G (p.Val557=)
c.1452T>G (p.Val484=)
6g.167341572C>ACA366425060TTLL2c.1672C>A (p.Leu558Ile)
c.1453C>A (p.Leu485Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.167341572C=CA1680342161TTLL2c.1672C= (p.Leu558=)
c.1453C= (p.Leu485=)
6g.167341572C>GCA366425061TTLL2c.1672C>G (p.Leu558Val)
c.1453C>G (p.Leu485Val)
dbSNP gnomAD v4
6g.167341572C>TCA366425062TTLL2c.1672C>T (p.Leu558Phe)
c.1453C>T (p.Leu485Phe)
6g.167341573T>ACA366425063TTLL2c.1673T>A (p.Leu558His)
c.1454T>A (p.Leu485His)
6g.167341573T>CCA366425064TTLL2c.1673T>C (p.Leu558Pro)
c.1454T>C (p.Leu485Pro)
6g.167341573T>GCA366425065TTLL2c.1673T>G (p.Leu558Arg)
c.1454T>G (p.Leu485Arg)
6g.167341574T>ACA453091134TTLL2c.1674T>A (p.Leu558=)
c.1455T>A (p.Leu485=)
6g.167341574T>CCA453091136TTLL2c.1674T>C (p.Leu558=)
c.1455T>C (p.Leu485=)
6g.167341574T>GCA453091139TTLL2c.1674T>G (p.Leu558=)
c.1455T>G (p.Leu485=)
6g.167341575G>ACA4097587TTLL2c.1675G>A (p.Val559Ile)
c.1456G>A (p.Val486Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341575G>CCA366425067TTLL2c.1675G>C (p.Val559Leu)
c.1456G>C (p.Val486Leu)
dbSNP gnomAD v2 gnomAD v4
6g.167341575G=CA1680342162TTLL2c.1675G= (p.Val559=)
c.1456G= (p.Val486=)
6g.167341575G>TCA366425066TTLL2c.1675G>T (p.Val559Phe)
c.1456G>T (p.Val486Phe)
6g.167341576T>ACA366425068TTLL2c.1676T>A (p.Val559Asp)
c.1457T>A (p.Val486Asp)
6g.167341576T>CCA366425069TTLL2c.1676T>C (p.Val559Ala)
c.1457T>C (p.Val486Ala)
6g.167341576T>GCA366425070TTLL2c.1676T>G (p.Val559Gly)
c.1457T>G (p.Val486Gly)
6g.167341580delCA2681211462TTLL2c.1680del (p.Pro561LeufsTer14)
c.1461del (p.Pro488LeufsTer14)
gnomAD v4
6g.167341577T>ACA453091154TTLL2c.1677T>A (p.Val559=)
c.1458T>A (p.Val486=)
6g.167341577T>CCA4097588TTLL2c.1677T>C (p.Val559=)
c.1458T>C (p.Val486=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341577T>GCA453091157TTLL2c.1677T>G (p.Val559=)
c.1458T>G (p.Val486=)
6g.167341577T=CA1680342163TTLL2c.1677T= (p.Val559=)
c.1458T= (p.Val486=)
6g.167341578T>ACA366425071TTLL2c.1678T>A (p.Phe560Ile)
c.1459T>A (p.Phe487Ile)
6g.167341578T>CCA366425072TTLL2c.1678T>C (p.Phe560Leu)
c.1459T>C (p.Phe487Leu)
6g.167341578T>GCA366425073TTLL2c.1678T>G (p.Phe560Val)
c.1459T>G (p.Phe487Val)
6g.167341579T>ACA366425074TTLL2c.1679T>A (p.Phe560Tyr)
c.1460T>A (p.Phe487Tyr)
COSMIC
6g.167341579T>CCA4097589TTLL2c.1679T>C (p.Phe560Ser)
c.1460T>C (p.Phe487Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341579T>GCA366425075TTLL2c.1679T>G (p.Phe560Cys)
c.1460T>G (p.Phe487Cys)
6g.167341579T=CA1680342164TTLL2c.1679T= (p.Phe560=)
c.1460T= (p.Phe487=)
6g.167341580T>ACA366425076TTLL2c.1680T>A (p.Phe560Leu)
c.1461T>A (p.Phe487Leu)
6g.167341580T>CCA453091171TTLL2c.1680T>C (p.Phe560=)
c.1461T>C (p.Phe487=)
6g.167341580T>GCA366425077TTLL2c.1680T>G (p.Phe560Leu)
c.1461T>G (p.Phe487Leu)
6g.167341581C>ACA366425079TTLL2c.1681C>A (p.Pro561Thr)
c.1462C>A (p.Pro488Thr)
6g.167341581C>GCA366425080TTLL2c.1681C>G (p.Pro561Ala)
c.1462C>G (p.Pro488Ala)
6g.167341581C>TCA366425078TTLL2c.1681C>T (p.Pro561Ser)
c.1462C>T (p.Pro488Ser)
6g.167341582C>ACA366425081TTLL2c.1682C>A (p.Pro561His)
c.1463C>A (p.Pro488His)
6g.167341582C=CA1680342165TTLL2c.1682C= (p.Pro561=)
c.1463C= (p.Pro488=)
6g.167341582C>GCA366425082TTLL2c.1682C>G (p.Pro561Arg)
c.1463C>G (p.Pro488Arg)
6g.167341582C>TCA366425083TTLL2c.1682C>T (p.Pro561Leu)
c.1463C>T (p.Pro488Leu)
dbSNP
6g.167341583T>ACA453091188TTLL2c.1683T>A (p.Pro561=)
c.1464T>A (p.Pro488=)
6g.167341583T>CCA453091190TTLL2c.1683T>C (p.Pro561=)
c.1464T>C (p.Pro488=)
6g.167341583T>GCA453091192TTLL2c.1683T>G (p.Pro561=)
c.1464T>G (p.Pro488=)
6g.167341584T>ACA366425084TTLL2c.1684T>A (p.Phe562Ile)
c.1465T>A (p.Phe489Ile)
6g.167341584T>CCA366425085TTLL2c.1684T>C (p.Phe562Leu)
c.1465T>C (p.Phe489Leu)
6g.167341584T>GCA366425086TTLL2c.1684T>G (p.Phe562Val)
c.1465T>G (p.Phe489Val)
6g.167341585T>ACA366425089TTLL2c.1685T>A (p.Phe562Tyr)
c.1466T>A (p.Phe489Tyr)
6g.167341585T>CCA366425087TTLL2c.1685T>C (p.Phe562Ser)
c.1466T>C (p.Phe489Ser)
6g.167341585T>GCA366425088TTLL2c.1685T>G (p.Phe562Cys)
c.1466T>G (p.Phe489Cys)
6g.167341586C>ACA366425090TTLL2c.1686C>A (p.Phe562Leu)
c.1467C>A (p.Phe489Leu)
6g.167341586C>GCA366425091TTLL2c.1686C>G (p.Phe562Leu)
c.1467C>G (p.Phe489Leu)
ClinVar gnomAD v4
6g.167341586C>TCA453091199TTLL2c.1686C>T (p.Phe562=)
c.1467C>T (p.Phe489=)
6g.167341587A>CCA366425092TTLL2c.1687A>C (p.Asn563His)
c.1468A>C (p.Asn490His)
6g.167341587A>GCA366425093TTLL2c.1687A>G (p.Asn563Asp)
c.1468A>G (p.Asn490Asp)
6g.167341587A>TCA366425094TTLL2c.1687A>T (p.Asn563Tyr)
c.1468A>T (p.Asn490Tyr)
6g.167341588A=CA1680342166TTLL2c.1688A= (p.Asn563=)
c.1469A= (p.Asn490=)
6g.167341588A>CCA366425097TTLL2c.1688A>C (p.Asn563Thr)
c.1469A>C (p.Asn490Thr)
6g.167341588A>GCA366425096TTLL2c.1688A>G (p.Asn563Ser)
c.1469A>G (p.Asn490Ser)
dbSNP gnomAD v3 gnomAD v4
6g.167341588A>TCA366425095TTLL2c.1688A>T (p.Asn563Ile)
c.1469A>T (p.Asn490Ile)
6g.167341589T>ACA151970646TTLL2c.1689T>A (p.Asn563Lys)
c.1470T>A (p.Asn490Lys)
dbSNP
6g.167341589T>CCA453091212TTLL2c.1689T>C (p.Asn563=)
c.1470T>C (p.Asn490=)
gnomAD v4
6g.167341589T>GCA366425098TTLL2c.1689T>G (p.Asn563Lys)
c.1470T>G (p.Asn490Lys)
6g.167341589T=CA1680342167TTLL2c.1689T= (p.Asn563=)
c.1470T= (p.Asn490=)
6g.167341590G>ACA366425099TTLL2c.1690G>A (p.Glu564Lys)
c.1471G>A (p.Glu491Lys)
6g.167341590G>CCA366425101TTLL2c.1690G>C (p.Glu564Gln)
c.1471G>C (p.Glu491Gln)
6g.167341590G>TCA366425100TTLL2c.1690G>T (p.Glu564Ter)
c.1471G>T (p.Glu491Ter)
COSMIC
6g.167341591A=CA1680342168TTLL2c.1691A= (p.Glu564=)
c.1472A= (p.Glu491=)
6g.167341591A>CCA366425102TTLL2c.1691A>C (p.Glu564Ala)
c.1472A>C (p.Glu491Ala)
6g.167341591A>GCA366425103TTLL2c.1691A>G (p.Glu564Gly)
c.1472A>G (p.Glu491Gly)
dbSNP
6g.167341591A>TCA366425104TTLL2c.1691A>T (p.Glu564Val)
c.1472A>T (p.Glu491Val)
6g.167341592A>CCA366425105TTLL2c.1692A>C (p.Glu564Asp)
c.1473A>C (p.Glu491Asp)
6g.167341592A>GCA453091221TTLL2c.1692A>G (p.Glu564=)
c.1473A>G (p.Glu491=)
6g.167341592A>TCA366425106TTLL2c.1692A>T (p.Glu564Asp)
c.1473A>T (p.Glu491Asp)
6g.167341593G>ACA366425107TTLL2c.1693G>A (p.Ala565Thr)
c.1474G>A (p.Ala492Thr)
dbSNP gnomAD v2 gnomAD v4
6g.167341593G>CCA366425108TTLL2c.1693G>C (p.Ala565Pro)
c.1474G>C (p.Ala492Pro)
6g.167341593G=CA1680342169TTLL2c.1693G= (p.Ala565=)
c.1474G= (p.Ala492=)
6g.167341593G>TCA366425109TTLL2c.1693G>T (p.Ala565Ser)
c.1474G>T (p.Ala492Ser)
6g.167341594C>ACA366425110TTLL2c.1694C>A (p.Ala565Glu)
c.1475C>A (p.Ala492Glu)
6g.167341594C>GCA366425111TTLL2c.1694C>G (p.Ala565Gly)
c.1475C>G (p.Ala492Gly)
6g.167341594C>TCA366425112TTLL2c.1694C>T (p.Ala565Val)
c.1475C>T (p.Ala492Val)
6g.167341595A>CCA453091234TTLL2c.1695A>C (p.Ala565=)
c.1476A>C (p.Ala492=)
6g.167341595A>GCA453091236TTLL2c.1695A>G (p.Ala565=)
c.1476A>G (p.Ala492=)
6g.167341595A>TCA453091241TTLL2c.1695A>T (p.Ala565=)
c.1476A>T (p.Ala492=)
6g.167341596A>CCA366425115TTLL2c.1696A>C (p.Thr566Pro)
c.1477A>C (p.Thr493Pro)
6g.167341596A>GCA366425113TTLL2c.1696A>G (p.Thr566Ala)
c.1477A>G (p.Thr493Ala)
6g.167341596A>TCA366425114TTLL2c.1696A>T (p.Thr566Ser)
c.1477A>T (p.Thr493Ser)
6g.167341597C>ACA366425116TTLL2c.1697C>A (p.Thr566Asn)
c.1478C>A (p.Thr493Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.167341597C=CA1680342170TTLL2c.1697C= (p.Thr566=)
c.1478C= (p.Thr493=)
6g.167341597C>GCA366425117TTLL2c.1697C>G (p.Thr566Ser)
c.1478C>G (p.Thr493Ser)
6g.167341597C>TCA366425118TTLL2c.1697C>T (p.Thr566Ile)
c.1478C>T (p.Thr493Ile)
6g.167341598T>ACA453091254TTLL2c.1698T>A (p.Thr566=)
c.1479T>A (p.Thr493=)
6g.167341598T>CCA4097590TTLL2c.1698T>C (p.Thr566=)
c.1479T>C (p.Thr493=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.167341598T>GCA453091256TTLL2c.1698T>G (p.Thr566=)
c.1479T>G (p.Thr493=)
6g.167341598T=CA1680342171TTLL2c.1698T= (p.Thr566=)
c.1479T= (p.Thr493=)
6g.167341599C>ACA366425119TTLL2c.1699C>A (p.Leu567Ile)
c.1480C>A (p.Leu494Ile)
COSMIC
6g.167341599C>GCA366425120TTLL2c.1699C>G (p.Leu567Val)
c.1480C>G (p.Leu494Val)
gnomAD v4
6g.167341599C>TCA366425121TTLL2c.1699C>T (p.Leu567Phe)
c.1480C>T (p.Leu494Phe)
6g.167341600T>ACA366425122TTLL2c.1700T>A (p.Leu567His)
c.1481T>A (p.Leu494His)
6g.167341600T>CCA366425123TTLL2c.1700T>C (p.Leu567Pro)
c.1481T>C (p.Leu494Pro)
6g.167341600T>GCA366425124TTLL2c.1700T>G (p.Leu567Arg)
c.1481T>G (p.Leu494Arg)
6g.167341601C>ACA453091267TTLL2c.1701C>A (p.Leu567=)
c.1482C>A (p.Leu494=)
6g.167341601C=CA1680342172TTLL2c.1701C= (p.Leu567=)
c.1482C= (p.Leu494=)
6g.167341601C>GCA453091270TTLL2c.1701C>G (p.Leu567=)
c.1482C>G (p.Leu494=)
6g.167341601C>TCA4097591TTLL2c.1701C>T (p.Leu567=)
c.1482C>T (p.Leu494=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341602G>ACA4097592TTLL2c.1702G>A (p.Gly568Arg)
c.1483G>A (p.Gly495Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.167341602G>CCA366425126TTLL2c.1702G>C (p.Gly568Arg)
c.1483G>C (p.Gly495Arg)
6g.167341602G=CA1680342173TTLL2c.1702G= (p.Gly568=)
c.1483G= (p.Gly495=)
6g.167341602G>TCA366425125TTLL2c.1702G>T (p.Gly568Ter)
c.1483G>T (p.Gly495Ter)
6g.167341603G>ACA366425127TTLL2c.1703G>A (p.Gly568Glu)
c.1484G>A (p.Gly495Glu)
dbSNP COSMIC
6g.167341603G>CCA366425128TTLL2c.1703G>C (p.Gly568Ala)
c.1484G>C (p.Gly495Ala)
gnomAD v4
6g.167341603G=CA1680342174TTLL2c.1703G= (p.Gly568=)
c.1484G= (p.Gly495=)
6g.167341603G>TCA366425129TTLL2c.1703G>T (p.Gly568Val)
c.1484G>T (p.Gly495Val)
6g.167341604A>CCA453091285TTLL2c.1704A>C (p.Gly568=)
c.1485A>C (p.Gly495=)
6g.167341604A>GCA453091288TTLL2c.1704A>G (p.Gly568=)
c.1485A>G (p.Gly495=)
6g.167341604A>TCA453091289TTLL2c.1704A>T (p.Gly568=)
c.1485A>T (p.Gly495=)
6g.167341605G>ACA366425130TTLL2c.1705G>A (p.Ala569Thr)
c.1486G>A (p.Ala496Thr)
gnomAD v4
6g.167341605G>CCA366425131TTLL2c.1705G>C (p.Ala569Pro)
c.1486G>C (p.Ala496Pro)
6g.167341605G>TCA366425132TTLL2c.1705G>T (p.Ala569Ser)
c.1486G>T (p.Ala496Ser)
6g.167341606C>ACA366425133TTLL2c.1706C>A (p.Ala569Asp)
c.1487C>A (p.Ala496Asp)
gnomAD v4
6g.167341606C>GCA366425134TTLL2c.1706C>G (p.Ala569Gly)
c.1487C>G (p.Ala496Gly)
6g.167341606C>TCA366425135TTLL2c.1706C>T (p.Ala569Val)
c.1487C>T (p.Ala496Val)
6g.167341607T>ACA453091313TTLL2c.1707T>A (p.Ala569=)
c.1488T>A (p.Ala496=)
6g.167341607T>CCA453091314TTLL2c.1707T>C (p.Ala569=)
c.1488T>C (p.Ala496=)
6g.167341607T>GCA453091318TTLL2c.1707T>G (p.Ala569=)
c.1488T>G (p.Ala496=)
6g.167341608T>ACA366425136TTLL2c.1708T>A (p.Ser570Thr)
c.1489T>A (p.Ser497Thr)
6g.167341608T>CCA366425137TTLL2c.1708T>C (p.Ser570Pro)
c.1489T>C (p.Ser497Pro)
6g.167341608T>GCA366425138TTLL2c.1708T>G (p.Ser570Ala)
c.1489T>G (p.Ser497Ala)
6g.167341609C>ACA366425140TTLL2c.1709C>A (p.Ser570Tyr)
c.1490C>A (p.Ser497Tyr)
6g.167341609C=CA1680342175TTLL2c.1709C= (p.Ser570=)
c.1490C= (p.Ser497=)
6g.167341609C>GCA366425141TTLL2c.1709C>G (p.Ser570Cys)
c.1490C>G (p.Ser497Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.167341609C>TCA366425139TTLL2c.1709C>T (p.Ser570Phe)
c.1490C>T (p.Ser497Phe)

Number of alleles fetched