Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
6 | g.167341610C>A | CA453091332 | TTLL2 | c.1710C>A (p.Ser570=) c.1491C>A (p.Ser497=) | |
6 | g.167341610C>G | CA453091335 | TTLL2 | c.1710C>G (p.Ser570=) c.1491C>G (p.Ser497=) | |
6 | g.167341610C>T | CA453091337 | TTLL2 | c.1710C>T (p.Ser570=) c.1491C>T (p.Ser497=) | |
6 | g.167341611A= | CA1680342176 | TTLL2 | c.1711A= (p.Arg571=) c.1492A= (p.Arg498=) | |
6 | g.167341611A>C | CA4097593 | TTLL2 | c.1711A>C (p.Arg571=) c.1492A>C (p.Arg498=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341611A>G | CA366425142 | TTLL2 | c.1711A>G (p.Arg571Gly) c.1492A>G (p.Arg498Gly) | gnomAD v4 COSMIC |
6 | g.167341611A>T | CA366425143 | TTLL2 | c.1711A>T (p.Arg571Trp) c.1492A>T (p.Arg498Trp) | |
6 | g.167341612G>A | CA366425144 | TTLL2 | c.1712G>A (p.Arg571Lys) c.1493G>A (p.Arg498Lys) | |
6 | g.167341612G>C | CA366425145 | TTLL2 | c.1712G>C (p.Arg571Thr) c.1493G>C (p.Arg498Thr) | |
6 | g.167341612G>T | CA366425146 | TTLL2 | c.1712G>T (p.Arg571Met) c.1493G>T (p.Arg498Met) | |
6 | g.167341613G>A | CA151970668 | TTLL2 | c.1713G>A (p.Arg571=) c.1494G>A (p.Arg498=) | dbSNP |
6 | g.167341613G>C | CA366425147 | TTLL2 | c.1713G>C (p.Arg571Ser) c.1494G>C (p.Arg498Ser) | |
6 | g.167341613G= | CA1680342177 | TTLL2 | c.1713G= (p.Arg571=) c.1494G= (p.Arg498=) | |
6 | g.167341613G>T | CA366425148 | TTLL2 | c.1713G>T (p.Arg571Ser) c.1494G>T (p.Arg498Ser) | |
6 | g.167341614A>C | CA366425149 | TTLL2 | c.1714A>C (p.Asn572His) c.1495A>C (p.Asn499His) | |
6 | g.167341614A>G | CA366425150 | TTLL2 | c.1714A>G (p.Asn572Asp) c.1495A>G (p.Asn499Asp) | |
6 | g.167341614A>T | CA366425151 | TTLL2 | c.1714A>T (p.Asn572Tyr) c.1495A>T (p.Asn499Tyr) | |
6 | g.167341615A>C | CA366425152 | TTLL2 | c.1715A>C (p.Asn572Thr) c.1496A>C (p.Asn499Thr) | |
6 | g.167341615A>G | CA366425153 | TTLL2 | c.1715A>G (p.Asn572Ser) c.1496A>G (p.Asn499Ser) | |
6 | g.167341615A>T | CA366425154 | TTLL2 | c.1715A>T (p.Asn572Ile) c.1496A>T (p.Asn499Ile) | |
6 | g.167341616T>A | CA366425155 | TTLL2 | c.1716T>A (p.Asn572Lys) c.1497T>A (p.Asn499Lys) | |
6 | g.167341616T>C | CA453091382 | TTLL2 | c.1716T>C (p.Asn572=) c.1497T>C (p.Asn499=) | gnomAD v4 |
6 | g.167341616T>G | CA366425156 | TTLL2 | c.1716T>G (p.Asn572Lys) c.1497T>G (p.Asn499Lys) | |
6 | g.167341617G>A | CA366425157 | TTLL2 | c.1717G>A (p.Gly573Arg) c.1498G>A (p.Gly500Arg) | |
6 | g.167341617G>C | CA366425158 | TTLL2 | c.1717G>C (p.Gly573Arg) c.1498G>C (p.Gly500Arg) | |
6 | g.167341617G>T | CA366425159 | TTLL2 | c.1717G>T (p.Gly573Ter) c.1498G>T (p.Gly500Ter) | gnomAD v4 |
6 | g.167341618G>A | CA366425160 | TTLL2 | c.1718G>A (p.Gly573Glu) c.1499G>A (p.Gly500Glu) | gnomAD v4 |
6 | g.167341618G>C | CA366425161 | TTLL2 | c.1718G>C (p.Gly573Ala) c.1499G>C (p.Gly500Ala) | |
6 | g.167341618G>T | CA366425162 | TTLL2 | c.1718G>T (p.Gly573Val) c.1499G>T (p.Gly500Val) | |
6 | g.167341619A>C | CA453091401 | TTLL2 | c.1719A>C (p.Gly573=) c.1500A>C (p.Gly500=) | |
6 | g.167341619A>G | CA453091403 | TTLL2 | c.1719A>G (p.Gly573=) c.1500A>G (p.Gly500=) | |
6 | g.167341619A>T | CA453091405 | TTLL2 | c.1719A>T (p.Gly573=) c.1500A>T (p.Gly500=) | |
6 | g.167341620T>A | CA366425163 | TTLL2 | c.1720T>A (p.Leu574Ile) c.1501T>A (p.Leu501Ile) | gnomAD v4 |
6 | g.167341620T>C | CA453091409 | TTLL2 | c.1720T>C (p.Leu574=) c.1501T>C (p.Leu501=) | dbSNP |
6 | g.167341620T>G | CA366425164 | TTLL2 | c.1720T>G (p.Leu574Val) c.1501T>G (p.Leu501Val) | |
6 | g.167341620T= | CA1680342178 | TTLL2 | c.1720T= (p.Leu574=) c.1501T= (p.Leu501=) | |
6 | g.167341621T>A | CA366425165 | TTLL2 | c.1721T>A (p.Leu574Ter) c.1502T>A (p.Leu501Ter) | |
6 | g.167341621T>C | CA366425166 | TTLL2 | c.1721T>C (p.Leu574Ser) c.1502T>C (p.Leu501Ser) | |
6 | g.167341621T>G | CA366425167 | TTLL2 | c.1721T>G (p.Leu574Ter) c.1502T>G (p.Leu501Ter) | |
6 | g.167341622A>C | CA366425168 | TTLL2 | c.1722A>C (p.Leu574Phe) c.1503A>C (p.Leu501Phe) | |
6 | g.167341622A>G | CA453091420 | TTLL2 | c.1722A>G (p.Leu574=) c.1503A>G (p.Leu501=) | |
6 | g.167341622A>T | CA366425169 | TTLL2 | c.1722A>T (p.Leu574Phe) c.1503A>T (p.Leu501Phe) | |
6 | g.167341623A>C | CA366425172 | TTLL2 | c.1723A>C (p.Asn575His) c.1504A>C (p.Asn502His) | |
6 | g.167341623A>G | CA366425171 | TTLL2 | c.1723A>G (p.Asn575Asp) c.1504A>G (p.Asn502Asp) | |
6 | g.167341623A>T | CA366425170 | TTLL2 | c.1723A>T (p.Asn575Tyr) c.1504A>T (p.Asn502Tyr) | gnomAD v4 |
6 | g.167341624A>C | CA366425173 | TTLL2 | c.1724A>C (p.Asn575Thr) c.1505A>C (p.Asn502Thr) | |
6 | g.167341624A>G | CA366425174 | TTLL2 | c.1724A>G (p.Asn575Ser) c.1505A>G (p.Asn502Ser) | gnomAD v4 |
6 | g.167341624A>T | CA366425175 | TTLL2 | c.1724A>T (p.Asn575Ile) c.1505A>T (p.Asn502Ile) | |
6 | g.167341625T>A | CA366425176 | TTLL2 | c.1725T>A (p.Asn575Lys) c.1506T>A (p.Asn502Lys) | |
6 | g.167341625T>C | CA453091434 | TTLL2 | c.1725T>C (p.Asn575=) c.1506T>C (p.Asn502=) | dbSNP |
6 | g.167341625T>G | CA366425177 | TTLL2 | c.1725T>G (p.Asn575Lys) c.1506T>G (p.Asn502Lys) | |
6 | g.167341625T= | CA1680342179 | TTLL2 | c.1725T= (p.Asn575=) c.1506T= (p.Asn502=) | |
6 | g.167341626G>A | CA366425178 | TTLL2 | c.1726G>A (p.Val576Ile) c.1507G>A (p.Val503Ile) | gnomAD v4 |
6 | g.167341626G>C | CA366425179 | TTLL2 | c.1726G>C (p.Val576Leu) c.1507G>C (p.Val503Leu) | |
6 | g.167341626G>T | CA366425180 | TTLL2 | c.1726G>T (p.Val576Phe) c.1507G>T (p.Val503Phe) | |
6 | g.167341627T>A | CA366425181 | TTLL2 | c.1727T>A (p.Val576Asp) c.1508T>A (p.Val503Asp) | |
6 | g.167341627T>C | CA366425182 | TTLL2 | c.1727T>C (p.Val576Ala) c.1508T>C (p.Val503Ala) | gnomAD v4 |
6 | g.167341627T>G | CA366425183 | TTLL2 | c.1727T>G (p.Val576Gly) c.1508T>G (p.Val503Gly) | |
6 | g.167341628C>A | CA453091457 | TTLL2 | c.1728C>A (p.Val576=) c.1509C>A (p.Val503=) | |
6 | g.167341628C>G | CA453091453 | TTLL2 | c.1728C>G (p.Val576=) c.1509C>G (p.Val503=) | |
6 | g.167341628C>T | CA453091450 | TTLL2 | c.1728C>T (p.Val576=) c.1509C>T (p.Val503=) | gnomAD v4 |
6 | g.167341629A= | CA1680342180 | TTLL2 | c.1729A= (p.Lys577=) c.1510A= (p.Lys504=) | |
6 | g.167341629A>C | CA366425184 | TTLL2 | c.1729A>C (p.Lys577Gln) c.1510A>C (p.Lys504Gln) | gnomAD v4 |
6 | g.167341629A>G | CA366425185 | TTLL2 | c.1729A>G (p.Lys577Glu) c.1510A>G (p.Lys504Glu) | dbSNP gnomAD v4 |
6 | g.167341629A>T | CA366425186 | TTLL2 | c.1729A>T (p.Lys577Ter) c.1510A>T (p.Lys504Ter) | |
6 | g.167341630A>C | CA366425188 | TTLL2 | c.1730A>C (p.Lys577Thr) c.1511A>C (p.Lys504Thr) | |
6 | g.167341630A>G | CA366425189 | TTLL2 | c.1730A>G (p.Lys577Arg) c.1511A>G (p.Lys504Arg) | |
6 | g.167341630A>T | CA366425187 | TTLL2 | c.1730A>T (p.Lys577Ile) c.1511A>T (p.Lys504Ile) | |
6 | g.167341630_167341633delinsAAAG | CA1680342181 | TTLL2 | c.1730_1733delinsAAAG (p.Lys577=) c.1511_1514delinsAAAG (p.Lys504=) | |
6 | g.167341631A>C | CA366425190 | TTLL2 | c.1731A>C (p.Lys577Asn) c.1512A>C (p.Lys504Asn) | |
6 | g.167341631A>G | CA453091474 | TTLL2 | c.1731A>G (p.Lys577=) c.1512A>G (p.Lys504=) | |
6 | g.167341631A>T | CA366425191 | TTLL2 | c.1731A>T (p.Lys577Asn) c.1512A>T (p.Lys504Asn) | |
6 | g.167341633_167341635del | CA1097049441 | TTLL2 | c.1733_1735del (p.Arg578del) c.1514_1516del (p.Arg505del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341632A>C | CA453091477 | TTLL2 | c.1732A>C (p.Arg578=) c.1513A>C (p.Arg505=) | |
6 | g.167341632A>G | CA366425192 | TTLL2 | c.1732A>G (p.Arg578Gly) c.1513A>G (p.Arg505Gly) | |
6 | g.167341632A>T | CA366425193 | TTLL2 | c.1732A>T (p.Arg578Ter) c.1513A>T (p.Arg505Ter) | |
6 | g.167341633G>A | CA366425194 | TTLL2 | c.1733G>A (p.Arg578Lys) c.1514G>A (p.Arg505Lys) | gnomAD v4 |
6 | g.167341633G>C | CA366425195 | TTLL2 | c.1733G>C (p.Arg578Thr) c.1514G>C (p.Arg505Thr) | |
6 | g.167341633G>T | CA366425196 | TTLL2 | c.1733G>T (p.Arg578Ile) c.1514G>T (p.Arg505Ile) | |
6 | g.167341634A>C | CA366425197 | TTLL2 | c.1734A>C (p.Arg578Ser) c.1515A>C (p.Arg505Ser) | |
6 | g.167341634A>G | CA453091489 | TTLL2 | c.1734A>G (p.Arg578=) c.1515A>G (p.Arg505=) | |
6 | g.167341634A>T | CA366425198 | TTLL2 | c.1734A>T (p.Arg578Ser) c.1515A>T (p.Arg505Ser) | |
6 | g.167341635A>C | CA366425199 | TTLL2 | c.1735A>C (p.Ile579Leu) c.1516A>C (p.Ile506Leu) | |
6 | g.167341635A>G | CA366425200 | TTLL2 | c.1735A>G (p.Ile579Val) c.1516A>G (p.Ile506Val) | gnomAD v4 |
6 | g.167341635A>T | CA366425201 | TTLL2 | c.1735A>T (p.Ile579Leu) c.1516A>T (p.Ile506Leu) | |
6 | g.167341636T>A | CA366425203 | TTLL2 | c.1736T>A (p.Ile579Lys) c.1517T>A (p.Ile506Lys) | dbSNP gnomAD v4 |
6 | g.167341636T>C | CA4097594 | TTLL2 | c.1736T>C (p.Ile579Thr) c.1517T>C (p.Ile506Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341636T>G | CA366425202 | TTLL2 | c.1736T>G (p.Ile579Arg) c.1517T>G (p.Ile506Arg) | |
6 | g.167341636T= | CA1680342182 | TTLL2 | c.1736T= (p.Ile579=) c.1517T= (p.Ile506=) | |
6 | g.167341637A>C | CA453091501 | TTLL2 | c.1737A>C (p.Ile579=) c.1518A>C (p.Ile506=) | gnomAD v4 |
6 | g.167341637A>G | CA366425204 | TTLL2 | c.1737A>G (p.Ile579Met) c.1518A>G (p.Ile506Met) | |
6 | g.167341637A>T | CA453091505 | TTLL2 | c.1737A>T (p.Ile579=) c.1518A>T (p.Ile506=) | |
6 | g.167341638A= | CA1680342183 | TTLL2 | c.1738A= (p.Ile580=) c.1519A= (p.Ile507=) | |
6 | g.167341638A>C | CA366425205 | TTLL2 | c.1738A>C (p.Ile580Leu) c.1519A>C (p.Ile507Leu) | |
6 | g.167341638A>G | CA366425206 | TTLL2 | c.1738A>G (p.Ile580Val) c.1519A>G (p.Ile507Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341638A>T | CA366425207 | TTLL2 | c.1738A>T (p.Ile580Phe) c.1519A>T (p.Ile507Phe) | |
6 | g.167341638_167341640del | CA645551846 | TTLL2 | c.1738_1740del (p.Ile580del) c.1519_1521del (p.Ile507del) | COSMIC |
6 | g.167341639T>A | CA366425208 | TTLL2 | c.1739T>A (p.Ile580Asn) c.1520T>A (p.Ile507Asn) | |
6 | g.167341639T>C | CA366425209 | TTLL2 | c.1739T>C (p.Ile580Thr) c.1520T>C (p.Ile507Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341639T>G | CA366425210 | TTLL2 | c.1739T>G (p.Ile580Ser) c.1520T>G (p.Ile507Ser) | |
6 | g.167341639T= | CA1680342184 | TTLL2 | c.1739T= (p.Ile580=) c.1520T= (p.Ile507=) | |
6 | g.167341640C>A | CA453091518 | TTLL2 | c.1740C>A (p.Ile580=) c.1521C>A (p.Ile507=) | |
6 | g.167341640C>G | CA366425211 | TTLL2 | c.1740C>G (p.Ile580Met) c.1521C>G (p.Ile507Met) | |
6 | g.167341640C>T | CA453091522 | TTLL2 | c.1740C>T (p.Ile580=) c.1521C>T (p.Ile507=) | |
6 | g.167341641C>A | CA366425212 | TTLL2 | c.1741C>A (p.Gln581Lys) c.1522C>A (p.Gln508Lys) | |
6 | g.167341641C>G | CA366425213 | TTLL2 | c.1741C>G (p.Gln581Glu) c.1522C>G (p.Gln508Glu) | |
6 | g.167341641C>T | CA366425214 | TTLL2 | c.1741C>T (p.Gln581Ter) c.1522C>T (p.Gln508Ter) | gnomAD v4 |
6 | g.167341642A>C | CA366425217 | TTLL2 | c.1742A>C (p.Gln581Pro) c.1523A>C (p.Gln508Pro) | |
6 | g.167341642A>G | CA366425216 | TTLL2 | c.1742A>G (p.Gln581Arg) c.1523A>G (p.Gln508Arg) | |
6 | g.167341642A>T | CA366425215 | TTLL2 | c.1742A>T (p.Gln581Leu) c.1523A>T (p.Gln508Leu) | gnomAD v4 |
6 | g.167341643A>C | CA366425218 | TTLL2 | c.1743A>C (p.Gln581His) c.1524A>C (p.Gln508His) | |
6 | g.167341643A>G | CA453091533 | TTLL2 | c.1743A>G (p.Gln581=) c.1524A>G (p.Gln508=) | |
6 | g.167341643A>T | CA366425219 | TTLL2 | c.1743A>T (p.Gln581His) c.1524A>T (p.Gln508His) | |
6 | g.167341643_167341644insACACACCCAACACA | CA2773968275 | TTLL2 | c.1743_1744insACACACCCAACACA (p.Glu582ThrfsTer10) c.1524_1525insACACACCCAACACA (p.Glu509ThrfsTer10) | |
6 | g.167341644G>A | CA366425220 | TTLL2 | c.1744G>A (p.Glu582Lys) c.1525G>A (p.Glu509Lys) | dbSNP |
6 | g.167341644G>C | CA366425222 | TTLL2 | c.1744G>C (p.Glu582Gln) c.1525G>C (p.Glu509Gln) | |
6 | g.167341644G= | CA1680342185 | TTLL2 | c.1744G= (p.Glu582=) c.1525G= (p.Glu509=) | |
6 | g.167341644G>T | CA366425221 | TTLL2 | c.1744G>T (p.Glu582Ter) c.1525G>T (p.Glu509Ter) | |
6 | g.167341645A>C | CA366425223 | TTLL2 | c.1745A>C (p.Glu582Ala) c.1526A>C (p.Glu509Ala) | |
6 | g.167341645A>G | CA366425225 | TTLL2 | c.1745A>G (p.Glu582Gly) c.1526A>G (p.Glu509Gly) | |
6 | g.167341645A>T | CA366425224 | TTLL2 | c.1745A>T (p.Glu582Val) c.1526A>T (p.Glu509Val) | |
6 | g.167341646G>A | CA453091548 | TTLL2 | c.1746G>A (p.Glu582=) c.1527G>A (p.Glu509=) | gnomAD v4 |
6 | g.167341646G>C | CA366425226 | TTLL2 | c.1746G>C (p.Glu582Asp) c.1527G>C (p.Glu509Asp) | |
6 | g.167341646G>T | CA366425227 | TTLL2 | c.1746G>T (p.Glu582Asp) c.1527G>T (p.Glu509Asp) | |
6 | g.167341647C>A | CA366425228 | TTLL2 | c.1747C>A (p.Leu583Ile) c.1528C>A (p.Leu510Ile) | |
6 | g.167341647C>G | CA366425229 | TTLL2 | c.1747C>G (p.Leu583Val) c.1528C>G (p.Leu510Val) | |
6 | g.167341647C>T | CA366425230 | TTLL2 | c.1747C>T (p.Leu583Phe) c.1528C>T (p.Leu510Phe) | |
6 | g.167341648T>A | CA366425231 | TTLL2 | c.1748T>A (p.Leu583His) c.1529T>A (p.Leu510His) | |
6 | g.167341648T>C | CA366425232 | TTLL2 | c.1748T>C (p.Leu583Pro) c.1529T>C (p.Leu510Pro) | |
6 | g.167341648T>G | CA366425233 | TTLL2 | c.1748T>G (p.Leu583Arg) c.1529T>G (p.Leu510Arg) | |
6 | g.167341649C>A | CA453091563 | TTLL2 | c.1749C>A (p.Leu583=) c.1530C>A (p.Leu510=) | |
6 | g.167341649C>G | CA453091564 | TTLL2 | c.1749C>G (p.Leu583=) c.1530C>G (p.Leu510=) | |
6 | g.167341649C>T | CA453091565 | TTLL2 | c.1749C>T (p.Leu583=) c.1530C>T (p.Leu510=) | |
6 | g.167341650C>A | CA366425234 | TTLL2 | c.1750C>A (p.Gln584Lys) c.1531C>A (p.Gln511Lys) | |
6 | g.167341650C>G | CA366425235 | TTLL2 | c.1750C>G (p.Gln584Glu) c.1531C>G (p.Gln511Glu) | |
6 | g.167341650C>T | CA366425236 | TTLL2 | c.1750C>T (p.Gln584Ter) c.1531C>T (p.Gln511Ter) | |
6 | g.167341651A>C | CA366425239 | TTLL2 | c.1751A>C (p.Gln584Pro) c.1532A>C (p.Gln511Pro) | |
6 | g.167341651A>G | CA366425237 | TTLL2 | c.1751A>G (p.Gln584Arg) c.1532A>G (p.Gln511Arg) | COSMIC |
6 | g.167341651A>T | CA366425238 | TTLL2 | c.1751A>T (p.Gln584Leu) c.1532A>T (p.Gln511Leu) | |
6 | g.167341652del | CA2578797064 | TTLL2 | c.1752del (p.Lys585AsnfsTer2) c.1533del (p.Lys512AsnfsTer2) | |
6 | g.167341652G>A | CA453091579 | TTLL2 | c.1752G>A (p.Gln584=) c.1533G>A (p.Gln511=) | gnomAD v4 |
6 | g.167341652G>C | CA366425240 | TTLL2 | c.1752G>C (p.Gln584His) c.1533G>C (p.Gln511His) | |
6 | g.167341652G>T | CA366425241 | TTLL2 | c.1752G>T (p.Gln584His) c.1533G>T (p.Gln511His) | |
6 | g.167341653A>C | CA366425242 | TTLL2 | c.1753A>C (p.Lys585Gln) c.1534A>C (p.Lys512Gln) | |
6 | g.167341653A>G | CA366425243 | TTLL2 | c.1753A>G (p.Lys585Glu) c.1534A>G (p.Lys512Glu) | |
6 | g.167341653A>T | CA366425244 | TTLL2 | c.1753A>T (p.Lys585Ter) c.1534A>T (p.Lys512Ter) | |
6 | g.167341654A>C | CA366425245 | TTLL2 | c.1754A>C (p.Lys585Thr) c.1535A>C (p.Lys512Thr) | |
6 | g.167341654A>G | CA366425246 | TTLL2 | c.1754A>G (p.Lys585Arg) c.1535A>G (p.Lys512Arg) | |
6 | g.167341654A>T | CA366425247 | TTLL2 | c.1754A>T (p.Lys585Ile) c.1535A>T (p.Lys512Ile) | |
6 | g.167341655A>C | CA366425248 | TTLL2 | c.1755A>C (p.Lys585Asn) c.1536A>C (p.Lys512Asn) | |
6 | g.167341655A>G | CA453091598 | TTLL2 | c.1755A>G (p.Lys585=) c.1536A>G (p.Lys512=) | |
6 | g.167341655A>T | CA366425249 | TTLL2 | c.1755A>T (p.Lys585Asn) c.1536A>T (p.Lys512Asn) | |
6 | g.167341656C>A | CA366425251 | TTLL2 | c.1756C>A (p.Leu586Ile) c.1537C>A (p.Leu513Ile) | |
6 | g.167341656C>G | CA366425250 | TTLL2 | c.1756C>G (p.Leu586Val) c.1537C>G (p.Leu513Val) | gnomAD v4 |
6 | g.167341656C>T | CA453091605 | TTLL2 | c.1756C>T (p.Leu586=) c.1537C>T (p.Leu513=) |