Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
6 | g.167341573T>A | CA366425063 | TTLL2 | c.1673T>A (p.Leu558His) c.1454T>A (p.Leu485His) | |
6 | g.167341573T>C | CA366425064 | TTLL2 | c.1673T>C (p.Leu558Pro) c.1454T>C (p.Leu485Pro) | |
6 | g.167341573T>G | CA366425065 | TTLL2 | c.1673T>G (p.Leu558Arg) c.1454T>G (p.Leu485Arg) | |
6 | g.167341574T>A | CA453091134 | TTLL2 | c.1674T>A (p.Leu558=) c.1455T>A (p.Leu485=) | |
6 | g.167341574T>C | CA453091136 | TTLL2 | c.1674T>C (p.Leu558=) c.1455T>C (p.Leu485=) | |
6 | g.167341574T>G | CA453091139 | TTLL2 | c.1674T>G (p.Leu558=) c.1455T>G (p.Leu485=) | |
6 | g.167341575G>A | CA4097587 | TTLL2 | c.1675G>A (p.Val559Ile) c.1456G>A (p.Val486Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341575G>C | CA366425067 | TTLL2 | c.1675G>C (p.Val559Leu) c.1456G>C (p.Val486Leu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341575G= | CA1680342162 | TTLL2 | c.1675G= (p.Val559=) c.1456G= (p.Val486=) | |
6 | g.167341575G>T | CA366425066 | TTLL2 | c.1675G>T (p.Val559Phe) c.1456G>T (p.Val486Phe) | |
6 | g.167341576T>A | CA366425068 | TTLL2 | c.1676T>A (p.Val559Asp) c.1457T>A (p.Val486Asp) | |
6 | g.167341576T>C | CA366425069 | TTLL2 | c.1676T>C (p.Val559Ala) c.1457T>C (p.Val486Ala) | |
6 | g.167341576T>G | CA366425070 | TTLL2 | c.1676T>G (p.Val559Gly) c.1457T>G (p.Val486Gly) | |
6 | g.167341580del | CA2681211462 | TTLL2 | c.1680del (p.Pro561LeufsTer14) c.1461del (p.Pro488LeufsTer14) | gnomAD v4 |
6 | g.167341577T>A | CA453091154 | TTLL2 | c.1677T>A (p.Val559=) c.1458T>A (p.Val486=) | |
6 | g.167341577T>C | CA4097588 | TTLL2 | c.1677T>C (p.Val559=) c.1458T>C (p.Val486=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341577T>G | CA453091157 | TTLL2 | c.1677T>G (p.Val559=) c.1458T>G (p.Val486=) | |
6 | g.167341577T= | CA1680342163 | TTLL2 | c.1677T= (p.Val559=) c.1458T= (p.Val486=) | |
6 | g.167341578T>A | CA366425071 | TTLL2 | c.1678T>A (p.Phe560Ile) c.1459T>A (p.Phe487Ile) | |
6 | g.167341578T>C | CA366425072 | TTLL2 | c.1678T>C (p.Phe560Leu) c.1459T>C (p.Phe487Leu) | |
6 | g.167341578T>G | CA366425073 | TTLL2 | c.1678T>G (p.Phe560Val) c.1459T>G (p.Phe487Val) | |
6 | g.167341579T>A | CA366425074 | TTLL2 | c.1679T>A (p.Phe560Tyr) c.1460T>A (p.Phe487Tyr) | COSMIC |
6 | g.167341579T>C | CA4097589 | TTLL2 | c.1679T>C (p.Phe560Ser) c.1460T>C (p.Phe487Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341579T>G | CA366425075 | TTLL2 | c.1679T>G (p.Phe560Cys) c.1460T>G (p.Phe487Cys) | |
6 | g.167341579T= | CA1680342164 | TTLL2 | c.1679T= (p.Phe560=) c.1460T= (p.Phe487=) | |
6 | g.167341580T>A | CA366425076 | TTLL2 | c.1680T>A (p.Phe560Leu) c.1461T>A (p.Phe487Leu) | |
6 | g.167341580T>C | CA453091171 | TTLL2 | c.1680T>C (p.Phe560=) c.1461T>C (p.Phe487=) | |
6 | g.167341580T>G | CA366425077 | TTLL2 | c.1680T>G (p.Phe560Leu) c.1461T>G (p.Phe487Leu) | |
6 | g.167341581C>A | CA366425079 | TTLL2 | c.1681C>A (p.Pro561Thr) c.1462C>A (p.Pro488Thr) | |
6 | g.167341581C>G | CA366425080 | TTLL2 | c.1681C>G (p.Pro561Ala) c.1462C>G (p.Pro488Ala) | |
6 | g.167341581C>T | CA366425078 | TTLL2 | c.1681C>T (p.Pro561Ser) c.1462C>T (p.Pro488Ser) | |
6 | g.167341582C>A | CA366425081 | TTLL2 | c.1682C>A (p.Pro561His) c.1463C>A (p.Pro488His) | |
6 | g.167341582C= | CA1680342165 | TTLL2 | c.1682C= (p.Pro561=) c.1463C= (p.Pro488=) | |
6 | g.167341582C>G | CA366425082 | TTLL2 | c.1682C>G (p.Pro561Arg) c.1463C>G (p.Pro488Arg) | |
6 | g.167341582C>T | CA366425083 | TTLL2 | c.1682C>T (p.Pro561Leu) c.1463C>T (p.Pro488Leu) | dbSNP |
6 | g.167341583T>A | CA453091188 | TTLL2 | c.1683T>A (p.Pro561=) c.1464T>A (p.Pro488=) | |
6 | g.167341583T>C | CA453091190 | TTLL2 | c.1683T>C (p.Pro561=) c.1464T>C (p.Pro488=) | |
6 | g.167341583T>G | CA453091192 | TTLL2 | c.1683T>G (p.Pro561=) c.1464T>G (p.Pro488=) | |
6 | g.167341584T>A | CA366425084 | TTLL2 | c.1684T>A (p.Phe562Ile) c.1465T>A (p.Phe489Ile) | |
6 | g.167341584T>C | CA366425085 | TTLL2 | c.1684T>C (p.Phe562Leu) c.1465T>C (p.Phe489Leu) | |
6 | g.167341584T>G | CA366425086 | TTLL2 | c.1684T>G (p.Phe562Val) c.1465T>G (p.Phe489Val) | |
6 | g.167341585T>A | CA366425089 | TTLL2 | c.1685T>A (p.Phe562Tyr) c.1466T>A (p.Phe489Tyr) | |
6 | g.167341585T>C | CA366425087 | TTLL2 | c.1685T>C (p.Phe562Ser) c.1466T>C (p.Phe489Ser) | |
6 | g.167341585T>G | CA366425088 | TTLL2 | c.1685T>G (p.Phe562Cys) c.1466T>G (p.Phe489Cys) | |
6 | g.167341586C>A | CA366425090 | TTLL2 | c.1686C>A (p.Phe562Leu) c.1467C>A (p.Phe489Leu) | |
6 | g.167341586C>G | CA366425091 | TTLL2 | c.1686C>G (p.Phe562Leu) c.1467C>G (p.Phe489Leu) | ClinVar gnomAD v4 |
6 | g.167341586C>T | CA453091199 | TTLL2 | c.1686C>T (p.Phe562=) c.1467C>T (p.Phe489=) | |
6 | g.167341587A>C | CA366425092 | TTLL2 | c.1687A>C (p.Asn563His) c.1468A>C (p.Asn490His) | |
6 | g.167341587A>G | CA366425093 | TTLL2 | c.1687A>G (p.Asn563Asp) c.1468A>G (p.Asn490Asp) | |
6 | g.167341587A>T | CA366425094 | TTLL2 | c.1687A>T (p.Asn563Tyr) c.1468A>T (p.Asn490Tyr) | |
6 | g.167341588A= | CA1680342166 | TTLL2 | c.1688A= (p.Asn563=) c.1469A= (p.Asn490=) | |
6 | g.167341588A>C | CA366425097 | TTLL2 | c.1688A>C (p.Asn563Thr) c.1469A>C (p.Asn490Thr) | |
6 | g.167341588A>G | CA366425096 | TTLL2 | c.1688A>G (p.Asn563Ser) c.1469A>G (p.Asn490Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341588A>T | CA366425095 | TTLL2 | c.1688A>T (p.Asn563Ile) c.1469A>T (p.Asn490Ile) | |
6 | g.167341589T>A | CA151970646 | TTLL2 | c.1689T>A (p.Asn563Lys) c.1470T>A (p.Asn490Lys) | dbSNP |
6 | g.167341589T>C | CA453091212 | TTLL2 | c.1689T>C (p.Asn563=) c.1470T>C (p.Asn490=) | gnomAD v4 |
6 | g.167341589T>G | CA366425098 | TTLL2 | c.1689T>G (p.Asn563Lys) c.1470T>G (p.Asn490Lys) | |
6 | g.167341589T= | CA1680342167 | TTLL2 | c.1689T= (p.Asn563=) c.1470T= (p.Asn490=) | |
6 | g.167341590G>A | CA366425099 | TTLL2 | c.1690G>A (p.Glu564Lys) c.1471G>A (p.Glu491Lys) | |
6 | g.167341590G>C | CA366425101 | TTLL2 | c.1690G>C (p.Glu564Gln) c.1471G>C (p.Glu491Gln) | |
6 | g.167341590G>T | CA366425100 | TTLL2 | c.1690G>T (p.Glu564Ter) c.1471G>T (p.Glu491Ter) | COSMIC |
6 | g.167341591A= | CA1680342168 | TTLL2 | c.1691A= (p.Glu564=) c.1472A= (p.Glu491=) | |
6 | g.167341591A>C | CA366425102 | TTLL2 | c.1691A>C (p.Glu564Ala) c.1472A>C (p.Glu491Ala) | |
6 | g.167341591A>G | CA366425103 | TTLL2 | c.1691A>G (p.Glu564Gly) c.1472A>G (p.Glu491Gly) | dbSNP |
6 | g.167341591A>T | CA366425104 | TTLL2 | c.1691A>T (p.Glu564Val) c.1472A>T (p.Glu491Val) | |
6 | g.167341592A>C | CA366425105 | TTLL2 | c.1692A>C (p.Glu564Asp) c.1473A>C (p.Glu491Asp) | |
6 | g.167341592A>G | CA453091221 | TTLL2 | c.1692A>G (p.Glu564=) c.1473A>G (p.Glu491=) | |
6 | g.167341592A>T | CA366425106 | TTLL2 | c.1692A>T (p.Glu564Asp) c.1473A>T (p.Glu491Asp) | |
6 | g.167341593G>A | CA366425107 | TTLL2 | c.1693G>A (p.Ala565Thr) c.1474G>A (p.Ala492Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341593G>C | CA366425108 | TTLL2 | c.1693G>C (p.Ala565Pro) c.1474G>C (p.Ala492Pro) | |
6 | g.167341593G= | CA1680342169 | TTLL2 | c.1693G= (p.Ala565=) c.1474G= (p.Ala492=) | |
6 | g.167341593G>T | CA366425109 | TTLL2 | c.1693G>T (p.Ala565Ser) c.1474G>T (p.Ala492Ser) | |
6 | g.167341594C>A | CA366425110 | TTLL2 | c.1694C>A (p.Ala565Glu) c.1475C>A (p.Ala492Glu) | |
6 | g.167341594C>G | CA366425111 | TTLL2 | c.1694C>G (p.Ala565Gly) c.1475C>G (p.Ala492Gly) | |
6 | g.167341594C>T | CA366425112 | TTLL2 | c.1694C>T (p.Ala565Val) c.1475C>T (p.Ala492Val) | |
6 | g.167341595A>C | CA453091234 | TTLL2 | c.1695A>C (p.Ala565=) c.1476A>C (p.Ala492=) | |
6 | g.167341595A>G | CA453091236 | TTLL2 | c.1695A>G (p.Ala565=) c.1476A>G (p.Ala492=) | |
6 | g.167341595A>T | CA453091241 | TTLL2 | c.1695A>T (p.Ala565=) c.1476A>T (p.Ala492=) | |
6 | g.167341596A>C | CA366425115 | TTLL2 | c.1696A>C (p.Thr566Pro) c.1477A>C (p.Thr493Pro) | |
6 | g.167341596A>G | CA366425113 | TTLL2 | c.1696A>G (p.Thr566Ala) c.1477A>G (p.Thr493Ala) | |
6 | g.167341596A>T | CA366425114 | TTLL2 | c.1696A>T (p.Thr566Ser) c.1477A>T (p.Thr493Ser) | |
6 | g.167341597C>A | CA366425116 | TTLL2 | c.1697C>A (p.Thr566Asn) c.1478C>A (p.Thr493Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341597C= | CA1680342170 | TTLL2 | c.1697C= (p.Thr566=) c.1478C= (p.Thr493=) | |
6 | g.167341597C>G | CA366425117 | TTLL2 | c.1697C>G (p.Thr566Ser) c.1478C>G (p.Thr493Ser) | |
6 | g.167341597C>T | CA366425118 | TTLL2 | c.1697C>T (p.Thr566Ile) c.1478C>T (p.Thr493Ile) | |
6 | g.167341598T>A | CA453091254 | TTLL2 | c.1698T>A (p.Thr566=) c.1479T>A (p.Thr493=) | |
6 | g.167341598T>C | CA4097590 | TTLL2 | c.1698T>C (p.Thr566=) c.1479T>C (p.Thr493=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341598T>G | CA453091256 | TTLL2 | c.1698T>G (p.Thr566=) c.1479T>G (p.Thr493=) | |
6 | g.167341598T= | CA1680342171 | TTLL2 | c.1698T= (p.Thr566=) c.1479T= (p.Thr493=) | |
6 | g.167341599C>A | CA366425119 | TTLL2 | c.1699C>A (p.Leu567Ile) c.1480C>A (p.Leu494Ile) | COSMIC |
6 | g.167341599C>G | CA366425120 | TTLL2 | c.1699C>G (p.Leu567Val) c.1480C>G (p.Leu494Val) | gnomAD v4 |
6 | g.167341599C>T | CA366425121 | TTLL2 | c.1699C>T (p.Leu567Phe) c.1480C>T (p.Leu494Phe) | |
6 | g.167341600T>A | CA366425122 | TTLL2 | c.1700T>A (p.Leu567His) c.1481T>A (p.Leu494His) | |
6 | g.167341600T>C | CA366425123 | TTLL2 | c.1700T>C (p.Leu567Pro) c.1481T>C (p.Leu494Pro) | |
6 | g.167341600T>G | CA366425124 | TTLL2 | c.1700T>G (p.Leu567Arg) c.1481T>G (p.Leu494Arg) | |
6 | g.167341601C>A | CA453091267 | TTLL2 | c.1701C>A (p.Leu567=) c.1482C>A (p.Leu494=) | |
6 | g.167341601C= | CA1680342172 | TTLL2 | c.1701C= (p.Leu567=) c.1482C= (p.Leu494=) | |
6 | g.167341601C>G | CA453091270 | TTLL2 | c.1701C>G (p.Leu567=) c.1482C>G (p.Leu494=) | |
6 | g.167341601C>T | CA4097591 | TTLL2 | c.1701C>T (p.Leu567=) c.1482C>T (p.Leu494=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341602G>A | CA4097592 | TTLL2 | c.1702G>A (p.Gly568Arg) c.1483G>A (p.Gly495Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341602G>C | CA366425126 | TTLL2 | c.1702G>C (p.Gly568Arg) c.1483G>C (p.Gly495Arg) | |
6 | g.167341602G= | CA1680342173 | TTLL2 | c.1702G= (p.Gly568=) c.1483G= (p.Gly495=) | |
6 | g.167341602G>T | CA366425125 | TTLL2 | c.1702G>T (p.Gly568Ter) c.1483G>T (p.Gly495Ter) | |
6 | g.167341603G>A | CA366425127 | TTLL2 | c.1703G>A (p.Gly568Glu) c.1484G>A (p.Gly495Glu) | dbSNP COSMIC |
6 | g.167341603G>C | CA366425128 | TTLL2 | c.1703G>C (p.Gly568Ala) c.1484G>C (p.Gly495Ala) | gnomAD v4 |
6 | g.167341603G= | CA1680342174 | TTLL2 | c.1703G= (p.Gly568=) c.1484G= (p.Gly495=) | |
6 | g.167341603G>T | CA366425129 | TTLL2 | c.1703G>T (p.Gly568Val) c.1484G>T (p.Gly495Val) | |
6 | g.167341604A>C | CA453091285 | TTLL2 | c.1704A>C (p.Gly568=) c.1485A>C (p.Gly495=) | |
6 | g.167341604A>G | CA453091288 | TTLL2 | c.1704A>G (p.Gly568=) c.1485A>G (p.Gly495=) | |
6 | g.167341604A>T | CA453091289 | TTLL2 | c.1704A>T (p.Gly568=) c.1485A>T (p.Gly495=) | |
6 | g.167341605G>A | CA366425130 | TTLL2 | c.1705G>A (p.Ala569Thr) c.1486G>A (p.Ala496Thr) | gnomAD v4 |
6 | g.167341605G>C | CA366425131 | TTLL2 | c.1705G>C (p.Ala569Pro) c.1486G>C (p.Ala496Pro) | |
6 | g.167341605G>T | CA366425132 | TTLL2 | c.1705G>T (p.Ala569Ser) c.1486G>T (p.Ala496Ser) | |
6 | g.167341606C>A | CA366425133 | TTLL2 | c.1706C>A (p.Ala569Asp) c.1487C>A (p.Ala496Asp) | gnomAD v4 |
6 | g.167341606C>G | CA366425134 | TTLL2 | c.1706C>G (p.Ala569Gly) c.1487C>G (p.Ala496Gly) | |
6 | g.167341606C>T | CA366425135 | TTLL2 | c.1706C>T (p.Ala569Val) c.1487C>T (p.Ala496Val) | |
6 | g.167341607T>A | CA453091313 | TTLL2 | c.1707T>A (p.Ala569=) c.1488T>A (p.Ala496=) | |
6 | g.167341607T>C | CA453091314 | TTLL2 | c.1707T>C (p.Ala569=) c.1488T>C (p.Ala496=) | |
6 | g.167341607T>G | CA453091318 | TTLL2 | c.1707T>G (p.Ala569=) c.1488T>G (p.Ala496=) | |
6 | g.167341608T>A | CA366425136 | TTLL2 | c.1708T>A (p.Ser570Thr) c.1489T>A (p.Ser497Thr) | |
6 | g.167341608T>C | CA366425137 | TTLL2 | c.1708T>C (p.Ser570Pro) c.1489T>C (p.Ser497Pro) | |
6 | g.167341608T>G | CA366425138 | TTLL2 | c.1708T>G (p.Ser570Ala) c.1489T>G (p.Ser497Ala) | |
6 | g.167341609C>A | CA366425140 | TTLL2 | c.1709C>A (p.Ser570Tyr) c.1490C>A (p.Ser497Tyr) | |
6 | g.167341609C= | CA1680342175 | TTLL2 | c.1709C= (p.Ser570=) c.1490C= (p.Ser497=) | |
6 | g.167341609C>G | CA366425141 | TTLL2 | c.1709C>G (p.Ser570Cys) c.1490C>G (p.Ser497Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341609C>T | CA366425139 | TTLL2 | c.1709C>T (p.Ser570Phe) c.1490C>T (p.Ser497Phe) |