Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.151615446A= | CA1672964298 | CCDC170 | c.1714A= (p.Lys572=) n.500A= c.1732A= (p.Lys578=) c.1531A= (p.Lys511=) n.129+1275T= | |
6 | g.151615446A>C | CA4051972 | CCDC170 | c.1714A>C (p.Lys572Gln) n.500A>C c.1732A>C (p.Lys578Gln) c.1531A>C (p.Lys511Gln) n.129+1275T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.151615446A>G | CA366066603 | CCDC170 | c.1714A>G (p.Lys572Glu) n.500A>G c.1732A>G (p.Lys578Glu) c.1531A>G (p.Lys511Glu) n.129+1275T>C | |
6 | g.151615446A>T | CA4051971 | CCDC170 | c.1714A>T (p.Lys572Ter) n.500A>T c.1732A>T (p.Lys578Ter) c.1531A>T (p.Lys511Ter) n.129+1275T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.151615447A>C | CA366066606 | CCDC170 | c.1715A>C (p.Lys572Thr) n.501A>C c.1733A>C (p.Lys578Thr) c.1532A>C (p.Lys511Thr) n.129+1274T>G | |
6 | g.151615447A>G | CA366066607 | CCDC170 | c.1715A>G (p.Lys572Arg) n.501A>G c.1733A>G (p.Lys578Arg) c.1532A>G (p.Lys511Arg) n.129+1274T>C | |
6 | g.151615447A>T | CA366066610 | CCDC170 | c.1715A>T (p.Lys572Ile) n.501A>T c.1733A>T (p.Lys578Ile) c.1532A>T (p.Lys511Ile) n.129+1274T>A | |
6 | g.151615448A>C | CA366066611 | CCDC170 | c.1716A>C (p.Lys572Asn) n.502A>C c.1734A>C (p.Lys578Asn) c.1533A>C (p.Lys511Asn) n.129+1273T>G | |
6 | g.151615448A>G | CA452969399 | CCDC170 | c.1716A>G (p.Lys572=) n.502A>G c.1734A>G (p.Lys578=) c.1533A>G (p.Lys511=) n.129+1273T>C | |
6 | g.151615448A>T | CA366066613 | CCDC170 | c.1716A>T (p.Lys572Asn) n.502A>T c.1734A>T (p.Lys578Asn) c.1533A>T (p.Lys511Asn) n.129+1273T>A | |
6 | g.151615449A>C | CA366066614 | CCDC170 | c.1717A>C (p.Thr573Pro) n.503A>C c.1735A>C (p.Thr579Pro) c.1534A>C (p.Thr512Pro) n.129+1272T>G | |
6 | g.151615449A>G | CA366066619 | CCDC170 | c.1717A>G (p.Thr573Ala) n.503A>G c.1735A>G (p.Thr579Ala) c.1534A>G (p.Thr512Ala) n.129+1272T>C | |
6 | g.151615449A>T | CA366066617 | CCDC170 | c.1717A>T (p.Thr573Ser) n.503A>T c.1735A>T (p.Thr579Ser) c.1534A>T (p.Thr512Ser) n.129+1272T>A | |
6 | g.151615450C>A | CA366066622 | CCDC170 | c.1718C>A (p.Thr573Asn) n.504C>A c.1736C>A (p.Thr579Asn) c.1535C>A (p.Thr512Asn) n.129+1271G>T | |
6 | g.151615450C>G | CA366066626 | CCDC170 | c.1718C>G (p.Thr573Ser) n.504C>G c.1736C>G (p.Thr579Ser) c.1535C>G (p.Thr512Ser) n.129+1271G>C | |
6 | g.151615450C>T | CA366066624 | CCDC170 | c.1718C>T (p.Thr573Ile) n.504C>T c.1736C>T (p.Thr579Ile) c.1535C>T (p.Thr512Ile) n.129+1271G>A | gnomAD v4 |
6 | g.151615451T>A | CA452969408 | CCDC170 | c.1719T>A (p.Thr573=) n.505T>A c.1737T>A (p.Thr579=) c.1536T>A (p.Thr512=) n.129+1270A>T | |
6 | g.151615451T>C | CA150155267 | CCDC170 | c.1719T>C (p.Thr573=) n.505T>C c.1737T>C (p.Thr579=) c.1536T>C (p.Thr512=) n.129+1270A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.151615451T>G | CA452969414 | CCDC170 | c.1719T>G (p.Thr573=) n.505T>G c.1737T>G (p.Thr579=) c.1536T>G (p.Thr512=) n.129+1270A>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.151615451T= | CA1672964306 | CCDC170 | c.1719T= (p.Thr573=) n.505T= c.1737T= (p.Thr579=) c.1536T= (p.Thr512=) n.129+1270A= | |
6 | g.151615452T>A | CA366066631 | CCDC170 | c.1720T>A (p.Leu574Met) n.506T>A c.1738T>A (p.Leu580Met) c.1537T>A (p.Leu513Met) n.129+1269A>T | |
6 | g.151615452T>C | CA452969416 | CCDC170 | c.1720T>C (p.Leu574=) n.506T>C c.1738T>C (p.Leu580=) c.1537T>C (p.Leu513=) n.129+1269A>G | |
6 | g.151615452T>G | CA366066629 | CCDC170 | c.1720T>G (p.Leu574Val) n.506T>G c.1738T>G (p.Leu580Val) c.1537T>G (p.Leu513Val) n.129+1269A>C | gnomAD v4 |
6 | g.151615453T>A | CA366066635 | CCDC170 | c.1721T>A (p.Leu574Ter) n.507T>A c.1739T>A (p.Leu580Ter) c.1538T>A (p.Leu513Ter) n.129+1268A>T | |
6 | g.151615453T>C | CA366066634 | CCDC170 | c.1721T>C (p.Leu574Ser) n.507T>C c.1739T>C (p.Leu580Ser) c.1538T>C (p.Leu513Ser) n.129+1268A>G | gnomAD v4 |
6 | g.151615453T>G | CA366066637 | CCDC170 | c.1721T>G (p.Leu574Trp) n.507T>G c.1739T>G (p.Leu580Trp) c.1538T>G (p.Leu513Trp) n.129+1268A>C | |
6 | g.151615454G>A | CA452969418 | CCDC170 | c.1722G>A (p.Leu574=) n.508G>A c.1740G>A (p.Leu580=) c.1539G>A (p.Leu513=) n.129+1267C>T | |
6 | g.151615454G>C | CA366066642 | CCDC170 | c.1722G>C (p.Leu574Phe) n.508G>C c.1740G>C (p.Leu580Phe) c.1539G>C (p.Leu513Phe) n.129+1267C>G | |
6 | g.151615454G>T | CA366066644 | CCDC170 | c.1722G>T (p.Leu574Phe) n.508G>T c.1740G>T (p.Leu580Phe) c.1539G>T (p.Leu513Phe) n.129+1267C>A | |
6 | g.151615455G>A | CA366066646 | CCDC170 | c.1723G>A (p.Glu575Lys) n.509G>A c.1741G>A (p.Glu581Lys) c.1540G>A (p.Glu514Lys) n.129+1266C>T | gnomAD v4 |
6 | g.151615455G>C | CA366066647 | CCDC170 | c.1723G>C (p.Glu575Gln) n.509G>C c.1741G>C (p.Glu581Gln) c.1540G>C (p.Glu514Gln) n.129+1266C>G | gnomAD v4 |
6 | g.151615455G= | CA1672964310 | CCDC170 | c.1723G= (p.Glu575=) n.509G= c.1741G= (p.Glu581=) c.1540G= (p.Glu514=) n.129+1266C= | |
6 | g.151615455G>T | CA4051973 | CCDC170 | c.1723G>T (p.Glu575Ter) n.509G>T c.1741G>T (p.Glu581Ter) c.1540G>T (p.Glu514Ter) n.129+1266C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.151615456A= | CA1672964314 | CCDC170 | c.1724A= (p.Glu575=) n.510A= c.1742A= (p.Glu581=) c.1541A= (p.Glu514=) n.129+1265T= | |
6 | g.151615456A>C | CA366066650 | CCDC170 | c.1724A>C (p.Glu575Ala) n.510A>C c.1742A>C (p.Glu581Ala) c.1541A>C (p.Glu514Ala) n.129+1265T>G | |
6 | g.151615456A>G | CA366066654 | CCDC170 | c.1724A>G (p.Glu575Gly) n.510A>G c.1742A>G (p.Glu581Gly) c.1541A>G (p.Glu514Gly) n.129+1265T>C | dbSNP |
6 | g.151615456A>T | CA366066656 | CCDC170 | c.1724A>T (p.Glu575Val) n.510A>T c.1742A>T (p.Glu581Val) c.1541A>T (p.Glu514Val) n.129+1265T>A | |
6 | g.151615457A>C | CA366066657 | CCDC170 | c.1725A>C (p.Glu575Asp) n.511A>C c.1743A>C (p.Glu581Asp) c.1542A>C (p.Glu514Asp) n.129+1264T>G | |
6 | g.151615457A>G | CA452969434 | CCDC170 | c.1725A>G (p.Glu575=) n.511A>G c.1743A>G (p.Glu581=) c.1542A>G (p.Glu514=) n.129+1264T>C | gnomAD v4 |
6 | g.151615457A>T | CA366066658 | CCDC170 | c.1725A>T (p.Glu575Asp) n.511A>T c.1743A>T (p.Glu581Asp) c.1542A>T (p.Glu514Asp) n.129+1264T>A | |
6 | g.151615458C>A | CA366066659 | CCDC170 | c.1726C>A (p.Gln576Lys) n.512C>A c.1744C>A (p.Gln582Lys) c.1543C>A (p.Gln515Lys) n.129+1263G>T | |
6 | g.151615458C>G | CA366066660 | CCDC170 | c.1726C>G (p.Gln576Glu) n.512C>G c.1744C>G (p.Gln582Glu) c.1543C>G (p.Gln515Glu) n.129+1263G>C | |
6 | g.151615458C>T | CA366066661 | CCDC170 | c.1726C>T (p.Gln576Ter) n.512C>T c.1744C>T (p.Gln582Ter) c.1543C>T (p.Gln515Ter) n.129+1263G>A | |
6 | g.151615459A= | CA1672964319 | CCDC170 | c.1727A= (p.Gln576=) n.513A= c.1745A= (p.Gln582=) c.1544A= (p.Gln515=) n.129+1262T= | |
6 | g.151615459A>C | CA366066663 | CCDC170 | c.1727A>C (p.Gln576Pro) n.513A>C c.1745A>C (p.Gln582Pro) c.1544A>C (p.Gln515Pro) n.129+1262T>G | |
6 | g.151615459A>G | CA366066667 | CCDC170 | c.1727A>G (p.Gln576Arg) n.513A>G c.1745A>G (p.Gln582Arg) c.1544A>G (p.Gln515Arg) n.129+1262T>C | |
6 | g.151615459A>T | CA366066669 | CCDC170 | c.1727A>T (p.Gln576Leu) n.513A>T c.1745A>T (p.Gln582Leu) c.1544A>T (p.Gln515Leu) n.129+1262T>A | dbSNP |
6 | g.151615459_151615460insCGAAGCCTATCTGCCCTTTGCGCACTTCGGTGCGTTCCTTTTCGCGGAGGTGTCCCACTTCGCGGCCGTCTAAATAATAGTTACCATCGGTCGGGTTGTCCAGCAGGCCTAAAATATTGAGCAGGGTG | CA2740799642 | CCDC170 | c.1727_1728insCGAAGCCTATCTGCCCTTTGCGCACTTCGGTGCGTTCCTTTTCGCGGAGGTGTCCCACTTCGCGGCCGTCTAAATAATAGTTACCATCGGTCGGGTTGTCCAGCAGGCCTAAAATATTGAGCAGGGTG (p.Gln576HisfsTer25) n.513_514insCGAAGCCTATCTGCCCTTTGCGCACTTCGGTGCGTTCCTTTTCGCGGAGGTGTCCCACTTCGCGGCCGTCTAAATAATAGTTACCATCGGTCGGGTTGTCCAGCAGGCCTAAAATATTGAGCAGGGTG c.1745_1746insCGAAGCCTATCTGCCCTTTGCGCACTTCGGTGCGTTCCTTTTCGCGGAGGTGTCCCACTTCGCGGCCGTCTAAATAATAGTTACCATCGGTCGGGTTGTCCAGCAGGCCTAAAATATTGAGCAGGGTG (p.Gln582HisfsTer25) c.1544_1545insCGAAGCCTATCTGCCCTTTGCGCACTTCGGTGCGTTCCTTTTCGCGGAGGTGTCCCACTTCGCGGCCGTCTAAATAATAGTTACCATCGGTCGGGTTGTCCAGCAGGCCTAAAATATTGAGCAGGGTG (p.Gln515HisfsTer25) n.129+1261_129+1262insCACCCTGCTCAATATTTTAGGCCTGCTGGACAACCCGACCGATGGTAACTATTATTTAGACGGCCGCGAAGTGGGACACCTCCGCGAAAAGGAACGCACCGAAGTGCGCAAAGGGCAGATAGGCTTCG | |
6 | g.151615460G>A | CA452969452 | CCDC170 | c.1728G>A (p.Gln576=) n.514G>A c.1746G>A (p.Gln582=) c.1545G>A (p.Gln515=) n.129+1261C>T | |
6 | g.151615460G>C | CA366066671 | CCDC170 | c.1728G>C (p.Gln576His) n.514G>C c.1746G>C (p.Gln582His) c.1545G>C (p.Gln515His) n.129+1261C>G | dbSNP |
6 | g.151615460G= | CA1672964325 | CCDC170 | c.1728G= (p.Gln576=) n.514G= c.1746G= (p.Gln582=) c.1545G= (p.Gln515=) n.129+1261C= | |
6 | g.151615460G>T | CA366066674 | CCDC170 | c.1728G>T (p.Gln576His) n.514G>T c.1746G>T (p.Gln582His) c.1545G>T (p.Gln515His) n.129+1261C>A | |
6 | g.151615461A>C | CA366066677 | CCDC170 | c.1729A>C (p.Thr577Pro) n.515A>C c.1747A>C (p.Thr583Pro) c.1546A>C (p.Thr516Pro) n.129+1260T>G | |
6 | g.151615461A>G | CA366066678 | CCDC170 | c.1729A>G (p.Thr577Ala) n.515A>G c.1747A>G (p.Thr583Ala) c.1546A>G (p.Thr516Ala) n.129+1260T>C | |
6 | g.151615461A>T | CA366066681 | CCDC170 | c.1729A>T (p.Thr577Ser) n.515A>T c.1747A>T (p.Thr583Ser) c.1546A>T (p.Thr516Ser) n.129+1260T>A | |
6 | g.151615462C>A | CA366066682 | CCDC170 | c.1730C>A (p.Thr577Asn) n.516C>A c.1748C>A (p.Thr583Asn) c.1547C>A (p.Thr516Asn) n.129+1259G>T | dbSNP |
6 | g.151615462C= | CA1672964330 | CCDC170 | c.1730C= (p.Thr577=) n.516C= c.1748C= (p.Thr583=) c.1547C= (p.Thr516=) n.129+1259G= | |
6 | g.151615462C>G | CA366066683 | CCDC170 | c.1730C>G (p.Thr577Ser) n.516C>G c.1748C>G (p.Thr583Ser) c.1547C>G (p.Thr516Ser) n.129+1259G>C | |
6 | g.151615462C>T | CA366066685 | CCDC170 | c.1730C>T (p.Thr577Ile) n.516C>T c.1748C>T (p.Thr583Ile) c.1547C>T (p.Thr516Ile) n.129+1259G>A | dbSNP gnomAD v4 |
6 | g.151615463T>A | CA452969464 | CCDC170 | c.1731T>A (p.Thr577=) n.517T>A c.1749T>A (p.Thr583=) c.1548T>A (p.Thr516=) n.129+1258A>T | |
6 | g.151615463T>C | CA452969466 | CCDC170 | c.1731T>C (p.Thr577=) n.517T>C c.1749T>C (p.Thr583=) c.1548T>C (p.Thr516=) n.129+1258A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.151615463T>G | CA452969468 | CCDC170 | c.1731T>G (p.Thr577=) n.517T>G c.1749T>G (p.Thr583=) c.1548T>G (p.Thr516=) n.129+1258A>C | |
6 | g.151615463T= | CA1672964334 | CCDC170 | c.1731T= (p.Thr577=) n.517T= c.1749T= (p.Thr583=) c.1548T= (p.Thr516=) n.129+1258A= | |
6 | g.151615464A>C | CA366066688 | CCDC170 | c.1732A>C (p.Lys578Gln) n.518A>C c.1750A>C (p.Lys584Gln) c.1549A>C (p.Lys517Gln) n.129+1257T>G | |
6 | g.151615464A>G | CA366066690 | CCDC170 | c.1732A>G (p.Lys578Glu) n.518A>G c.1750A>G (p.Lys584Glu) c.1549A>G (p.Lys517Glu) n.129+1257T>C | gnomAD v4 |
6 | g.151615464A>T | CA366066691 | CCDC170 | c.1732A>T (p.Lys578Ter) n.518A>T c.1750A>T (p.Lys584Ter) c.1549A>T (p.Lys517Ter) n.129+1257T>A | |
6 | g.151615465A>C | CA366066694 | CCDC170 | c.1733A>C (p.Lys578Thr) n.519A>C c.1751A>C (p.Lys584Thr) c.1550A>C (p.Lys517Thr) n.129+1256T>G | |
6 | g.151615465A>G | CA366066699 | CCDC170 | c.1733A>G (p.Lys578Arg) n.519A>G c.1751A>G (p.Lys584Arg) c.1550A>G (p.Lys517Arg) n.129+1256T>C | |
6 | g.151615465A>T | CA366066701 | CCDC170 | c.1733A>T (p.Lys578Ile) n.519A>T c.1751A>T (p.Lys584Ile) c.1550A>T (p.Lys517Ile) n.129+1256T>A | |
6 | g.151615466A>C | CA366066702 | CCDC170 | c.1734A>C (p.Lys578Asn) n.520A>C c.1752A>C (p.Lys584Asn) c.1551A>C (p.Lys517Asn) n.129+1255T>G | |
6 | g.151615466A>G | CA452969476 | CCDC170 | c.1734A>G (p.Lys578=) n.520A>G c.1752A>G (p.Lys584=) c.1551A>G (p.Lys517=) n.129+1255T>C | |
6 | g.151615466A>T | CA366066703 | CCDC170 | c.1734A>T (p.Lys578Asn) n.520A>T c.1752A>T (p.Lys584Asn) c.1551A>T (p.Lys517Asn) n.129+1255T>A | |
6 | g.151615467G>A | CA366066707 | CCDC170 | c.1735G>A (p.Ala579Thr) n.521G>A c.1753G>A (p.Ala585Thr) c.1552G>A (p.Ala518Thr) n.129+1254C>T | gnomAD v4 |
6 | g.151615467G>C | CA366066709 | CCDC170 | c.1735G>C (p.Ala579Pro) n.521G>C c.1753G>C (p.Ala585Pro) c.1552G>C (p.Ala518Pro) n.129+1254C>G | |
6 | g.151615467G= | CA1672964337 | CCDC170 | c.1735G= (p.Ala579=) n.521G= c.1753G= (p.Ala585=) c.1552G= (p.Ala518=) n.129+1254C= | |
6 | g.151615467G>T | CA366066715 | CCDC170 | c.1735G>T (p.Ala579Ser) n.521G>T c.1753G>T (p.Ala585Ser) c.1552G>T (p.Ala518Ser) n.129+1254C>A | dbSNP |
6 | g.151615468C>A | CA366066718 | CCDC170 | c.1736C>A (p.Ala579Asp) n.522C>A c.1754C>A (p.Ala585Asp) c.1553C>A (p.Ala518Asp) n.129+1253G>T | |
6 | g.151615468C>G | CA366066719 | CCDC170 | c.1736C>G (p.Ala579Gly) n.522C>G c.1754C>G (p.Ala585Gly) c.1553C>G (p.Ala518Gly) n.129+1253G>C | |
6 | g.151615468C>T | CA366066720 | CCDC170 | c.1736C>T (p.Ala579Val) n.522C>T c.1754C>T (p.Ala585Val) c.1553C>T (p.Ala518Val) n.129+1253G>A | gnomAD v4 |
6 | g.151615469C>A | CA452969489 | CCDC170 | c.1737C>A (p.Ala579=) n.523C>A c.1755C>A (p.Ala585=) c.1554C>A (p.Ala518=) n.129+1252G>T | |
6 | g.151615469C>G | CA452969487 | CCDC170 | c.1737C>G (p.Ala579=) n.523C>G c.1755C>G (p.Ala585=) c.1554C>G (p.Ala518=) n.129+1252G>C | |
6 | g.151615469C>T | CA452969486 | CCDC170 | c.1737C>T (p.Ala579=) n.523C>T c.1755C>T (p.Ala585=) c.1554C>T (p.Ala518=) n.129+1252G>A | gnomAD v4 |
6 | g.151615470A= | CA1672964343 | CCDC170 | c.1738A= (p.Ile580=) n.524A= c.1756A= (p.Ile586=) c.1555A= (p.Ile519=) n.129+1251T= | |
6 | g.151615470A>C | CA366066721 | CCDC170 | c.1738A>C (p.Ile580Leu) n.524A>C c.1756A>C (p.Ile586Leu) c.1555A>C (p.Ile519Leu) n.129+1251T>G | |
6 | g.151615470A>G | CA4051974 | CCDC170 | c.1738A>G (p.Ile580Val) n.524A>G c.1756A>G (p.Ile586Val) c.1555A>G (p.Ile519Val) n.129+1251T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.151615470A>T | CA366066722 | CCDC170 | c.1738A>T (p.Ile580Phe) n.524A>T c.1756A>T (p.Ile586Phe) c.1555A>T (p.Ile519Phe) n.129+1251T>A | |
6 | g.151615471T>A | CA366066725 | CCDC170 | c.1739T>A (p.Ile580Asn) n.525T>A c.1757T>A (p.Ile586Asn) c.1556T>A (p.Ile519Asn) n.129+1250A>T | |
6 | g.151615471T>C | CA366066737 | CCDC170 | c.1739T>C (p.Ile580Thr) n.525T>C c.1757T>C (p.Ile586Thr) c.1556T>C (p.Ile519Thr) n.129+1250A>G | gnomAD v4 |
6 | g.151615471T>G | CA366066738 | CCDC170 | c.1739T>G (p.Ile580Ser) n.525T>G c.1757T>G (p.Ile586Ser) c.1556T>G (p.Ile519Ser) n.129+1250A>C | |
6 | g.151615472T>A | CA452969501 | CCDC170 | c.1740T>A (p.Ile580=) n.526T>A c.1758T>A (p.Ile586=) c.1557T>A (p.Ile519=) n.129+1249A>T | |
6 | g.151615472T>C | CA150155272 | CCDC170 | c.1740T>C (p.Ile580=) n.526T>C c.1758T>C (p.Ile586=) c.1557T>C (p.Ile519=) n.129+1249A>G | dbSNP gnomAD v4 |
6 | g.151615472T>G | CA366066742 | CCDC170 | c.1740T>G (p.Ile580Met) n.526T>G c.1758T>G (p.Ile586Met) c.1557T>G (p.Ile519Met) n.129+1249A>C | |
6 | g.151615472T= | CA1672964346 | CCDC170 | c.1740T= (p.Ile580=) n.526T= c.1758T= (p.Ile586=) c.1557T= (p.Ile519=) n.129+1249A= | |
6 | g.151615473G>A | CA366066745 | CCDC170 | c.1741G>A (p.Glu581Lys) n.527G>A c.1759G>A (p.Glu587Lys) c.1558G>A (p.Glu520Lys) n.129+1248C>T | gnomAD v4 |
6 | g.151615473G>C | CA366066743 | CCDC170 | c.1741G>C (p.Glu581Gln) n.527G>C c.1759G>C (p.Glu587Gln) c.1558G>C (p.Glu520Gln) n.129+1248C>G | |
6 | g.151615473G>T | CA366066744 | CCDC170 | c.1741G>T (p.Glu581Ter) n.527G>T c.1759G>T (p.Glu587Ter) c.1558G>T (p.Glu520Ter) n.129+1248C>A | |
6 | g.151615474A>C | CA366066746 | CCDC170 | c.1742A>C (p.Glu581Ala) n.528A>C c.1760A>C (p.Glu587Ala) c.1559A>C (p.Glu520Ala) n.129+1247T>G | |
6 | g.151615474A>G | CA366066748 | CCDC170 | c.1742A>G (p.Glu581Gly) n.528A>G c.1760A>G (p.Glu587Gly) c.1559A>G (p.Glu520Gly) n.129+1247T>C | |
6 | g.151615474A>T | CA366066750 | CCDC170 | c.1742A>T (p.Glu581Val) n.528A>T c.1760A>T (p.Glu587Val) c.1559A>T (p.Glu520Val) n.129+1247T>A | |
6 | g.151615475A>C | CA366066768 | CCDC170 | c.1743A>C (p.Glu581Asp) n.529A>C c.1761A>C (p.Glu587Asp) c.1560A>C (p.Glu520Asp) n.129+1246T>G | |
6 | g.151615475A>G | CA452969518 | CCDC170 | c.1743A>G (p.Glu581=) n.529A>G c.1761A>G (p.Glu587=) c.1560A>G (p.Glu520=) n.129+1246T>C | |
6 | g.151615475A>T | CA366066769 | CCDC170 | c.1743A>T (p.Glu581Asp) n.529A>T c.1761A>T (p.Glu587Asp) c.1560A>T (p.Glu520Asp) n.129+1246T>A | |
6 | g.151615476del | CA2680800836 | CCDC170 | c.1744del (p.Asp582IlefsTer2) n.530del c.1762del (p.Asp588IlefsTer2) c.1561del (p.Asp521IlefsTer2) n.129+1245del | gnomAD v4 |
6 | g.151615476G>A | CA366066772 | CCDC170 | c.1744G>A (p.Asp582Asn) n.530G>A c.1762G>A (p.Asp588Asn) c.1561G>A (p.Asp521Asn) n.129+1245C>T | dbSNP gnomAD v4 |
6 | g.151615476G>C | CA366066773 | CCDC170 | c.1744G>C (p.Asp582His) n.530G>C c.1762G>C (p.Asp588His) c.1561G>C (p.Asp521His) n.129+1245C>G | |
6 | g.151615476G= | CA1672962353 | CCDC170 | c.1744G= (p.Asp582=) n.530G= c.1762G= (p.Asp588=) c.1561G= (p.Asp521=) n.129+1245C= | |
6 | g.151615476G>T | CA366066774 | CCDC170 | c.1744G>T (p.Asp582Tyr) n.530G>T c.1762G>T (p.Asp588Tyr) c.1561G>T (p.Asp521Tyr) n.129+1245C>A | |
6 | g.151615477A= | CA1672962356 | CCDC170 | c.1745A= (p.Asp582=) n.531A= c.1763A= (p.Asp588=) c.1562A= (p.Asp521=) n.129+1244T= | |
6 | g.151615477A>C | CA366066776 | CCDC170 | c.1745A>C (p.Asp582Ala) n.531A>C c.1763A>C (p.Asp588Ala) c.1562A>C (p.Asp521Ala) n.129+1244T>G | |
6 | g.151615477A>G | CA366066777 | CCDC170 | c.1745A>G (p.Asp582Gly) n.531A>G c.1763A>G (p.Asp588Gly) c.1562A>G (p.Asp521Gly) n.129+1244T>C | |
6 | g.151615477A>T | CA366066779 | CCDC170 | c.1745A>T (p.Asp582Val) n.531A>T c.1763A>T (p.Asp588Val) c.1562A>T (p.Asp521Val) n.129+1244T>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.151615478T>A | CA366066780 | CCDC170 | c.1746T>A (p.Asp582Glu) n.532T>A c.1764T>A (p.Asp588Glu) c.1563T>A (p.Asp521Glu) n.129+1243A>T | |
6 | g.151615478T>C | CA452969525 | CCDC170 | c.1746T>C (p.Asp582=) n.532T>C c.1764T>C (p.Asp588=) c.1563T>C (p.Asp521=) n.129+1243A>G | |
6 | g.151615478T>G | CA366066782 | CCDC170 | c.1746T>G (p.Asp582Glu) n.532T>G c.1764T>G (p.Asp588Glu) c.1563T>G (p.Asp521Glu) n.129+1243A>C | gnomAD v4 |
6 | g.151615479C>A | CA366066786 | CCDC170 | c.1747C>A (p.Leu583Ile) n.533C>A c.1765C>A (p.Leu589Ile) c.1564C>A (p.Leu522Ile) n.129+1242G>T | |
6 | g.151615479C= | CA1672962358 | CCDC170 | c.1747C= (p.Leu583=) n.533C= c.1765C= (p.Leu589=) c.1564C= (p.Leu522=) n.129+1242G= | |
6 | g.151615479C>G | CA366066788 | CCDC170 | c.1747C>G (p.Leu583Val) n.533C>G c.1765C>G (p.Leu589Val) c.1564C>G (p.Leu522Val) n.129+1242G>C | gnomAD v4 |
6 | g.151615479C>T | CA452969528 | CCDC170 | c.1747C>T (p.Leu583=) n.533C>T c.1765C>T (p.Leu589=) c.1564C>T (p.Leu522=) n.129+1242G>A | dbSNP gnomAD v2 |
6 | g.151615480T>A | CA366066793 | CCDC170 | c.1748T>A (p.Leu583Gln) n.534T>A c.1766T>A (p.Leu589Gln) c.1565T>A (p.Leu522Gln) n.129+1241A>T | |
6 | g.151615480T>C | CA366066798 | CCDC170 | c.1748T>C (p.Leu583Pro) n.534T>C c.1766T>C (p.Leu589Pro) c.1565T>C (p.Leu522Pro) n.129+1241A>G | |
6 | g.151615480T>G | CA366066795 | CCDC170 | c.1748T>G (p.Leu583Arg) n.534T>G c.1766T>G (p.Leu589Arg) c.1565T>G (p.Leu522Arg) n.129+1241A>C | |
6 | g.151615481A>C | CA452969532 | CCDC170 | c.1749A>C (p.Leu583=) n.535A>C c.1767A>C (p.Leu589=) c.1566A>C (p.Leu522=) n.129+1240T>G | |
6 | g.151615481A>G | CA452969535 | CCDC170 | c.1749A>G (p.Leu583=) n.535A>G c.1767A>G (p.Leu589=) c.1566A>G (p.Leu522=) n.129+1240T>C | |
6 | g.151615481A>T | CA452969536 | CCDC170 | c.1749A>T (p.Leu583=) n.535A>T c.1767A>T (p.Leu589=) c.1566A>T (p.Leu522=) n.129+1240T>A | |
6 | g.151615482A= | CA1672962360 | CCDC170 | c.1750A= (p.Asn584=) n.536A= c.1768A= (p.Asn590=) c.1567A= (p.Asn523=) n.129+1239T= | |
6 | g.151615482A>C | CA366066801 | CCDC170 | c.1750A>C (p.Asn584His) n.536A>C c.1768A>C (p.Asn590His) c.1567A>C (p.Asn523His) n.129+1239T>G | |
6 | g.151615482A>G | CA366066803 | CCDC170 | c.1750A>G (p.Asn584Asp) n.536A>G c.1768A>G (p.Asn590Asp) c.1567A>G (p.Asn523Asp) n.129+1239T>C | dbSNP |
6 | g.151615482A>T | CA366066808 | CCDC170 | c.1750A>T (p.Asn584Tyr) n.536A>T c.1768A>T (p.Asn590Tyr) c.1567A>T (p.Asn523Tyr) n.129+1239T>A | |
6 | g.151615483A>C | CA366066811 | CCDC170 | c.1751A>C (p.Asn584Thr) n.537A>C c.1769A>C (p.Asn590Thr) c.1568A>C (p.Asn523Thr) n.129+1238T>G | |
6 | g.151615483A>G | CA366066813 | CCDC170 | c.1751A>G (p.Asn584Ser) n.537A>G c.1769A>G (p.Asn590Ser) c.1568A>G (p.Asn523Ser) n.129+1238T>C | |
6 | g.151615483A>T | CA366066816 | CCDC170 | c.1751A>T (p.Asn584Ile) n.537A>T c.1769A>T (p.Asn590Ile) c.1568A>T (p.Asn523Ile) n.129+1238T>A | |
6 | g.151615484C>A | CA366066819 | CCDC170 | c.1752C>A (p.Asn584Lys) n.538C>A c.1770C>A (p.Asn590Lys) c.1569C>A (p.Asn523Lys) n.129+1237G>T | dbSNP |
6 | g.151615484C= | CA1672962362 | CCDC170 | c.1752C= (p.Asn584=) n.538C= c.1770C= (p.Asn590=) c.1569C= (p.Asn523=) n.129+1237G= | |
6 | g.151615484C>G | CA366066821 | CCDC170 | c.1752C>G (p.Asn584Lys) n.538C>G c.1770C>G (p.Asn590Lys) c.1569C>G (p.Asn523Lys) n.129+1237G>C | |
6 | g.151615484C>T | CA452969546 | CCDC170 | c.1752C>T (p.Asn584=) n.538C>T c.1770C>T (p.Asn590=) c.1569C>T (p.Asn523=) n.129+1237G>A | |
6 | g.151615485A>C | CA366066824 | CCDC170 | c.1753A>C (p.Lys585Gln) n.539A>C c.1771A>C (p.Lys591Gln) c.1570A>C (p.Lys524Gln) n.129+1236T>G | |
6 | g.151615485A>G | CA366066827 | CCDC170 | c.1753A>G (p.Lys585Glu) n.539A>G c.1771A>G (p.Lys591Glu) c.1570A>G (p.Lys524Glu) n.129+1236T>C | |
6 | g.151615485A>T | CA366066829 | CCDC170 | c.1753A>T (p.Lys585Ter) n.539A>T c.1771A>T (p.Lys591Ter) c.1570A>T (p.Lys524Ter) n.129+1236T>A | |
6 | g.151615486A>C | CA366066834 | CCDC170 | c.1754A>C (p.Lys585Thr) n.540A>C c.1772A>C (p.Lys591Thr) c.1571A>C (p.Lys524Thr) n.129+1235T>G | |
6 | g.151615486A>G | CA366066833 | CCDC170 | c.1754A>G (p.Lys585Arg) n.540A>G c.1772A>G (p.Lys591Arg) c.1571A>G (p.Lys524Arg) n.129+1235T>C | |
6 | g.151615486A>T | CA366066832 | CCDC170 | c.1754A>T (p.Lys585Ile) n.540A>T c.1772A>T (p.Lys591Ile) c.1571A>T (p.Lys524Ile) n.129+1235T>A | |
6 | g.151615487A>C | CA366066835 | CCDC170 | c.1755A>C (p.Lys585Asn) n.541A>C c.1773A>C (p.Lys591Asn) c.1572A>C (p.Lys524Asn) n.129+1234T>G | |
6 | g.151615487A>G | CA452969557 | CCDC170 | c.1755A>G (p.Lys585=) n.541A>G c.1773A>G (p.Lys591=) c.1572A>G (p.Lys524=) n.129+1234T>C | |
6 | g.151615487A>T | CA366066836 | CCDC170 | c.1755A>T (p.Lys585Asn) n.541A>T c.1773A>T (p.Lys591Asn) c.1572A>T (p.Lys524Asn) n.129+1234T>A | |
6 | g.151615488T>A | CA366066838 | CCDC170 | c.1756T>A (p.Ser586Thr) n.542T>A c.1774T>A (p.Ser592Thr) c.1573T>A (p.Ser525Thr) n.129+1233A>T | |
6 | g.151615488T>C | CA366066839 | CCDC170 | c.1756T>C (p.Ser586Pro) n.542T>C c.1774T>C (p.Ser592Pro) c.1573T>C (p.Ser525Pro) n.129+1233A>G | |
6 | g.151615488T>G | CA366066841 | CCDC170 | c.1756T>G (p.Ser586Ala) n.542T>G c.1774T>G (p.Ser592Ala) c.1573T>G (p.Ser525Ala) n.129+1233A>C | |
6 | g.151615488_151615489dup | CA2680800837 | CCDC170 | c.1756_1757dup (p.Arg587ProfsTer8) n.542_543dup c.1774_1775dup (p.Arg593ProfsTer8) c.1573_1574dup (p.Arg526ProfsTer8) n.129+1232_129+1233dup | gnomAD v4 |
6 | g.151615489C>A | CA366066843 | CCDC170 | c.1757C>A (p.Ser586Tyr) n.543C>A c.1775C>A (p.Ser592Tyr) c.1574C>A (p.Ser525Tyr) n.129+1232G>T | gnomAD v4 |
6 | g.151615489C>G | CA366066845 | CCDC170 | c.1757C>G (p.Ser586Cys) n.543C>G c.1775C>G (p.Ser592Cys) c.1574C>G (p.Ser525Cys) n.129+1232G>C | |
6 | g.151615489C>T | CA366066846 | CCDC170 | c.1757C>T (p.Ser586Phe) n.543C>T c.1775C>T (p.Ser592Phe) c.1574C>T (p.Ser525Phe) n.129+1232G>A | |
6 | g.151615490C>A | CA452969563 | CCDC170 | c.1758C>A (p.Ser586=) n.544C>A c.1776C>A (p.Ser592=) c.1575C>A (p.Ser525=) n.129+1231G>T | |
6 | g.151615490C>G | CA452969564 | CCDC170 | c.1758C>G (p.Ser586=) n.544C>G c.1776C>G (p.Ser592=) c.1575C>G (p.Ser525=) n.129+1231G>C | |
6 | g.151615490C>T | CA452969565 | CCDC170 | c.1758C>T (p.Ser586=) n.544C>T c.1776C>T (p.Ser592=) c.1575C>T (p.Ser525=) n.129+1231G>A | gnomAD v4 |
6 | g.151615491A= | CA1672962366 | CCDC170 | c.1759A= (p.Arg587=) n.545A= c.1777A= (p.Arg593=) c.1576A= (p.Arg526=) n.129+1230T= | |
6 | g.151615491A>C | CA452969566 | CCDC170 | c.1759A>C (p.Arg587=) n.545A>C c.1777A>C (p.Arg593=) c.1576A>C (p.Arg526=) n.129+1230T>G | |
6 | g.151615491A>G | CA4051975 | CCDC170 | c.1759A>G (p.Arg587Gly) n.545A>G c.1777A>G (p.Arg593Gly) c.1576A>G (p.Arg526Gly) n.129+1230T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.151615491A>T | CA366066857 | CCDC170 | c.1759A>T (p.Arg587Ter) n.545A>T c.1777A>T (p.Arg593Ter) c.1576A>T (p.Arg526Ter) n.129+1230T>A | |
6 | g.151615492G>A | CA366066859 | CCDC170 | c.1760G>A (p.Arg587Lys) n.546G>A c.1778G>A (p.Arg593Lys) c.1577G>A (p.Arg526Lys) n.129+1229C>T | |
6 | g.151615492G>C | CA366066861 | CCDC170 | c.1760G>C (p.Arg587Thr) n.546G>C c.1778G>C (p.Arg593Thr) c.1577G>C (p.Arg526Thr) n.129+1229C>G | |
6 | g.151615492G>T | CA366066863 | CCDC170 | c.1760G>T (p.Arg587Ile) n.546G>T c.1778G>T (p.Arg593Ile) c.1577G>T (p.Arg526Ile) n.129+1229C>A | |
6 | g.151615493A= | CA1672962369 | CCDC170 | c.1761A= (p.Arg587=) n.547A= c.1779A= (p.Arg593=) c.1578A= (p.Arg526=) n.129+1228T= | |
6 | g.151615493A>C | CA366066866 | CCDC170 | c.1761A>C (p.Arg587Ser) n.547A>C c.1779A>C (p.Arg593Ser) c.1578A>C (p.Arg526Ser) n.129+1228T>G | |
6 | g.151615493A>G | CA452969576 | CCDC170 | c.1761A>G (p.Arg587=) n.547A>G c.1779A>G (p.Arg593=) c.1578A>G (p.Arg526=) n.129+1228T>C | |
6 | g.151615493A>T | CA4051976 | CCDC170 | c.1761A>T (p.Arg587Ser) n.547A>T c.1779A>T (p.Arg593Ser) c.1578A>T (p.Arg526Ser) n.129+1228T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.151615494G>A | CA366066870 | CCDC170 | c.1762G>A (p.Asp588Asn) n.548G>A c.1780G>A (p.Asp594Asn) c.1579G>A (p.Asp527Asn) n.129+1227C>T | dbSNP gnomAD v4 |
6 | g.151615494G>C | CA366066872 | CCDC170 | c.1762G>C (p.Asp588His) n.548G>C c.1780G>C (p.Asp594His) c.1579G>C (p.Asp527His) n.129+1227C>G | dbSNP gnomAD v4 |
6 | g.151615494G= | CA1672962373 | CCDC170 | c.1762G= (p.Asp588=) n.548G= c.1780G= (p.Asp594=) c.1579G= (p.Asp527=) n.129+1227C= | |
6 | g.151615494G>T | CA366066873 | CCDC170 | c.1762G>T (p.Asp588Tyr) n.548G>T c.1780G>T (p.Asp594Tyr) c.1579G>T (p.Asp527Tyr) n.129+1227C>A | |
6 | g.151615494_151615496del | CA2680800838 | CCDC170 | c.1762_1764del (p.Asp588del) n.548_550del c.1780_1782del (p.Asp594del) c.1579_1581del (p.Asp527del) n.129+1225_129+1227del | gnomAD v4 |
6 | g.151615495A>C | CA366066876 | CCDC170 | c.1763A>C (p.Asp588Ala) n.549A>C c.1781A>C (p.Asp594Ala) c.1580A>C (p.Asp527Ala) n.129+1226T>G | |
6 | g.151615495A>G | CA366066877 | CCDC170 | c.1763A>G (p.Asp588Gly) n.549A>G c.1781A>G (p.Asp594Gly) c.1580A>G (p.Asp527Gly) n.129+1226T>C | |
6 | g.151615495A>T | CA366066879 | CCDC170 | c.1763A>T (p.Asp588Val) n.549A>T c.1781A>T (p.Asp594Val) c.1580A>T (p.Asp527Val) n.129+1226T>A | gnomAD v4 |
6 | g.151615496C>A | CA366066883 | CCDC170 | c.1764C>A (p.Asp588Glu) n.550C>A c.1782C>A (p.Asp594Glu) c.1581C>A (p.Asp527Glu) n.129+1225G>T | |
6 | g.151615496C>G | CA366066881 | CCDC170 | c.1764C>G (p.Asp588Glu) n.550C>G c.1782C>G (p.Asp594Glu) c.1581C>G (p.Asp527Glu) n.129+1225G>C | |
6 | g.151615496C>T | CA452969588 | CCDC170 | c.1764C>T (p.Asp588=) n.550C>T c.1782C>T (p.Asp594=) c.1581C>T (p.Asp527=) n.129+1225G>A | COSMIC |
6 | g.151615497C>A | CA366066887 | CCDC170 | c.1765C>A (p.Gln589Lys) n.551C>A c.1783C>A (p.Gln595Lys) c.1582C>A (p.Gln528Lys) n.129+1224G>T | |
6 | g.151615497C= | CA1672962375 | CCDC170 | c.1765C= (p.Gln589=) n.551C= c.1783C= (p.Gln595=) c.1582C= (p.Gln528=) n.129+1224G= | |
6 | g.151615497C>G | CA366066906 | CCDC170 | c.1765C>G (p.Gln589Glu) n.551C>G c.1783C>G (p.Gln595Glu) c.1582C>G (p.Gln528Glu) n.129+1224G>C | |
6 | g.151615497C>T | CA366066908 | CCDC170 | c.1765C>T (p.Gln589Ter) n.551C>T c.1783C>T (p.Gln595Ter) c.1582C>T (p.Gln528Ter) n.129+1224G>A | dbSNP gnomAD v4 |
6 | g.151615498A>C | CA366066910 | CCDC170 | c.1766A>C (p.Gln589Pro) n.552A>C c.1784A>C (p.Gln595Pro) c.1583A>C (p.Gln528Pro) n.129+1223T>G | |
6 | g.151615498A>G | CA366066913 | CCDC170 | c.1766A>G (p.Gln589Arg) n.552A>G c.1784A>G (p.Gln595Arg) c.1583A>G (p.Gln528Arg) n.129+1223T>C | |
6 | g.151615498A>T | CA366066914 | CCDC170 | c.1766A>T (p.Gln589Leu) n.552A>T c.1784A>T (p.Gln595Leu) c.1583A>T (p.Gln528Leu) n.129+1223T>A | |
6 | g.151615500_151615507dup | CA2680800839 | CCDC170 | c.1768_1775dup (p.Lys592AsnfsTer5) n.554_561dup c.1786_1793dup (p.Lys598AsnfsTer5) c.1585_1592dup (p.Lys531AsnfsTer5) n.129+1216_129+1223dup | gnomAD v4 |
6 | g.151615499A= | CA1672962380 | CCDC170 | c.1767A= (p.Gln589=) n.553A= c.1785A= (p.Gln595=) c.1584A= (p.Gln528=) n.129+1222T= | |
6 | g.151615499A>C | CA366066917 | CCDC170 | c.1767A>C (p.Gln589His) n.553A>C c.1785A>C (p.Gln595His) c.1584A>C (p.Gln528His) n.129+1222T>G | |
6 | g.151615499A>G | CA4051977 | CCDC170 | c.1767A>G (p.Gln589=) n.553A>G c.1785A>G (p.Gln595=) c.1584A>G (p.Gln528=) n.129+1222T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.151615499A>T | CA366066920 | CCDC170 | c.1767A>T (p.Gln589His) n.553A>T c.1785A>T (p.Gln595His) c.1584A>T (p.Gln528His) n.129+1222T>A | |
6 | g.151615500C>A | CA366066925 | CCDC170 | c.1768C>A (p.Leu590Met) n.554C>A c.1786C>A (p.Leu596Met) c.1585C>A (p.Leu529Met) n.129+1221G>T | gnomAD v4 |
6 | g.151615500C>G | CA366066928 | CCDC170 | c.1768C>G (p.Leu590Val) n.554C>G c.1786C>G (p.Leu596Val) c.1585C>G (p.Leu529Val) n.129+1221G>C | gnomAD v4 |
6 | g.151615500C>T | CA452969598 | CCDC170 | c.1768C>T (p.Leu590=) n.554C>T c.1786C>T (p.Leu596=) c.1585C>T (p.Leu529=) n.129+1221G>A | |
6 | g.151615501T>A | CA366066930 | CCDC170 | c.1769T>A (p.Leu590Gln) n.555T>A c.1787T>A (p.Leu596Gln) c.1586T>A (p.Leu529Gln) n.129+1220A>T | |
6 | g.151615501T>C | CA366066945 | CCDC170 | c.1769T>C (p.Leu590Pro) n.555T>C c.1787T>C (p.Leu596Pro) c.1586T>C (p.Leu529Pro) n.129+1220A>G | |
6 | g.151615501T>G | CA366066947 | CCDC170 | c.1769T>G (p.Leu590Arg) n.555T>G c.1787T>G (p.Leu596Arg) c.1586T>G (p.Leu529Arg) n.129+1220A>C | |
6 | g.151615502G>A | CA452969600 | CCDC170 | c.1770G>A (p.Leu590=) n.556G>A c.1788G>A (p.Leu596=) c.1587G>A (p.Leu529=) n.129+1219C>T | |
6 | g.151615502G>C | CA452969601 | CCDC170 | c.1770G>C (p.Leu590=) n.556G>C c.1788G>C (p.Leu596=) c.1587G>C (p.Leu529=) n.129+1219C>G | |
6 | g.151615502G>T | CA452969602 | CCDC170 | c.1770G>T (p.Leu590=) n.556G>T c.1788G>T (p.Leu596=) c.1587G>T (p.Leu529=) n.129+1219C>A | |
6 | g.151615503G>A | CA366066950 | CCDC170 | c.1771G>A (p.Glu591Lys) n.557G>A c.1789G>A (p.Glu597Lys) c.1588G>A (p.Glu530Lys) n.129+1218C>T | |
6 | g.151615503G>C | CA366066953 | CCDC170 | c.1771G>C (p.Glu591Gln) n.557G>C c.1789G>C (p.Glu597Gln) c.1588G>C (p.Glu530Gln) n.129+1218C>G | gnomAD v4 |
6 | g.151615503G= | CA1672962384 | CCDC170 | c.1771G= (p.Glu591=) n.557G= c.1789G= (p.Glu597=) c.1588G= (p.Glu530=) n.129+1218C= | |
6 | g.151615503G>T | CA4051978 | CCDC170 | c.1771G>T (p.Glu591Ter) n.557G>T c.1789G>T (p.Glu597Ter) c.1588G>T (p.Glu530Ter) n.129+1218C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.151615504A>C | CA366066956 | CCDC170 | c.1772A>C (p.Glu591Ala) n.558A>C c.1790A>C (p.Glu597Ala) c.1589A>C (p.Glu530Ala) n.129+1217T>G | |
6 | g.151615504A>G | CA366066959 | CCDC170 | c.1772A>G (p.Glu591Gly) n.558A>G c.1790A>G (p.Glu597Gly) c.1589A>G (p.Glu530Gly) n.129+1217T>C | |
6 | g.151615504A>T | CA366066962 | CCDC170 | c.1772A>T (p.Glu591Val) n.558A>T c.1790A>T (p.Glu597Val) c.1589A>T (p.Glu530Val) n.129+1217T>A | |
6 | g.151615505G>A | CA4051979 | CCDC170 | c.1773G>A (p.Glu591=) n.559G>A c.1791G>A (p.Glu597=) c.1590G>A (p.Glu530=) n.129+1216C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.151615505G>C | CA366066973 | CCDC170 | c.1773G>C (p.Glu591Asp) n.559G>C c.1791G>C (p.Glu597Asp) c.1590G>C (p.Glu530Asp) n.129+1216C>G | |
6 | g.151615505G= | CA1672962390 | CCDC170 | c.1773G= (p.Glu591=) n.559G= c.1791G= (p.Glu597=) c.1590G= (p.Glu530=) n.129+1216C= | |
6 | g.151615505G>T | CA366066971 | CCDC170 | c.1773G>T (p.Glu591Asp) n.559G>T c.1791G>T (p.Glu597Asp) c.1590G>T (p.Glu530Asp) n.129+1216C>A | |
6 | g.151615506A>C | CA366066977 | CCDC170 | c.1774A>C (p.Lys592Gln) n.560A>C c.1792A>C (p.Lys598Gln) c.1591A>C (p.Lys531Gln) n.129+1215T>G | |
6 | g.151615506A>G | CA366066988 | CCDC170 | c.1774A>G (p.Lys592Glu) n.560A>G c.1792A>G (p.Lys598Glu) c.1591A>G (p.Lys531Glu) n.129+1215T>C | |
6 | g.151615506A>T | CA366066985 | CCDC170 | c.1774A>T (p.Lys592Ter) n.560A>T c.1792A>T (p.Lys598Ter) c.1591A>T (p.Lys531Ter) n.129+1215T>A | |
6 | g.151615507A>C | CA366066990 | CCDC170 | c.1775A>C (p.Lys592Thr) n.561A>C c.1793A>C (p.Lys598Thr) c.1592A>C (p.Lys531Thr) n.129+1214T>G | |
6 | g.151615507A>G | CA366066994 | CCDC170 | c.1775A>G (p.Lys592Arg) n.561A>G c.1793A>G (p.Lys598Arg) c.1592A>G (p.Lys531Arg) n.129+1214T>C | |
6 | g.151615507A>T | CA366066992 | CCDC170 | c.1775A>T (p.Lys592Met) n.561A>T c.1793A>T (p.Lys598Met) c.1592A>T (p.Lys531Met) n.129+1214T>A | |
6 | g.151615508G>A | CA452969614 | CCDC170 | c.1776G>A (p.Lys592=) n.562G>A c.1794G>A (p.Lys598=) c.1593G>A (p.Lys531=) n.129+1213C>T | gnomAD v4 |
6 | g.151615508G>C | CA366066996 | CCDC170 | c.1776G>C (p.Lys592Asn) n.562G>C c.1794G>C (p.Lys598Asn) c.1593G>C (p.Lys531Asn) n.129+1213C>G | |
6 | g.151615508G= | CA1672962395 | CCDC170 | c.1776G= (p.Lys592=) n.562G= c.1794G= (p.Lys598=) c.1593G= (p.Lys531=) n.129+1213C= | |
6 | g.151615508G>T | CA150155275 | CCDC170 | c.1776G>T (p.Lys592Asn) n.562G>T c.1794G>T (p.Lys598Asn) c.1593G>T (p.Lys531Asn) n.129+1213C>A | dbSNP |
6 | g.151615509A= | CA1672962398 | CCDC170 | c.1777A= (p.Met593=) n.563A= c.1795A= (p.Met599=) c.1594A= (p.Met532=) n.129+1212T= | |
6 | g.151615509A>C | CA366067002 | CCDC170 | c.1777A>C (p.Met593Leu) n.563A>C c.1795A>C (p.Met599Leu) c.1594A>C (p.Met532Leu) n.129+1212T>G | |
6 | g.151615509A>G | CA366067004 | CCDC170 | c.1777A>G (p.Met593Val) n.563A>G c.1795A>G (p.Met599Val) c.1594A>G (p.Met532Val) n.129+1212T>C | gnomAD v4 |
6 | g.151615509A>T | CA4051980 | CCDC170 | c.1777A>T (p.Met593Leu) n.563A>T c.1795A>T (p.Met599Leu) c.1594A>T (p.Met532Leu) n.129+1212T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.151615510T>A | CA366067007 | CCDC170 | c.1778T>A (p.Met593Lys) n.564T>A c.1796T>A (p.Met599Lys) c.1595T>A (p.Met532Lys) n.129+1211A>T | |
6 | g.151615510T>C | CA366067010 | CCDC170 | c.1778T>C (p.Met593Thr) n.564T>C c.1796T>C (p.Met599Thr) c.1595T>C (p.Met532Thr) n.129+1211A>G | |
6 | g.151615510T>G | CA4051981 | CCDC170 | c.1778T>G (p.Met593Arg) n.564T>G c.1796T>G (p.Met599Arg) c.1595T>G (p.Met532Arg) n.129+1211A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.151615510T= | CA1672962402 | CCDC170 | c.1778T= (p.Met593=) n.564T= c.1796T= (p.Met599=) c.1595T= (p.Met532=) n.129+1211A= | |
6 | g.151615511G>A | CA366067013 | CCDC170 | c.1779G>A (p.Met593Ile) n.565G>A c.1797G>A (p.Met599Ile) c.1596G>A (p.Met532Ile) n.129+1210C>T | |
6 | g.151615511G>C | CA366067016 | CCDC170 | c.1779G>C (p.Met593Ile) n.565G>C c.1797G>C (p.Met599Ile) c.1596G>C (p.Met532Ile) n.129+1210C>G | |
6 | g.151615511G= | CA1672962405 | CCDC170 | c.1779G= (p.Met593=) n.565G= c.1797G= (p.Met599=) c.1596G= (p.Met532=) n.129+1210C= | |
6 | g.151615511G>T | CA4051982 | CCDC170 | c.1779G>T (p.Met593Ile) n.565G>T c.1797G>T (p.Met599Ile) c.1596G>T (p.Met532Ile) n.129+1210C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.151615512A>C | CA366067029 | CCDC170 | c.1780A>C (p.Lys594Gln) n.566A>C c.1798A>C (p.Lys600Gln) c.1597A>C (p.Lys533Gln) n.129+1209T>G | |
6 | g.151615512A>G | CA366067021 | CCDC170 | c.1780A>G (p.Lys594Glu) n.566A>G c.1798A>G (p.Lys600Glu) c.1597A>G (p.Lys533Glu) n.129+1209T>C | |
6 | g.151615512A>T | CA366067024 | CCDC170 | c.1780A>T (p.Lys594Ter) n.566A>T c.1798A>T (p.Lys600Ter) c.1597A>T (p.Lys533Ter) n.129+1209T>A | |
6 | g.151615513A>C | CA366067032 | CCDC170 | c.1781A>C (p.Lys594Thr) n.567A>C c.1799A>C (p.Lys600Thr) c.1598A>C (p.Lys533Thr) n.129+1208T>G | |
6 | g.151615513A>G | CA366067035 | CCDC170 | c.1781A>G (p.Lys594Arg) n.567A>G c.1799A>G (p.Lys600Arg) c.1598A>G (p.Lys533Arg) n.129+1208T>C | |
6 | g.151615513A>T | CA366067039 | CCDC170 | c.1781A>T (p.Lys594Met) n.567A>T c.1799A>T (p.Lys600Met) c.1598A>T (p.Lys533Met) n.129+1208T>A | |
6 | g.151615514G>A | CA452969628 | CCDC170 | c.1782G>A (p.Lys594=) n.568G>A c.1800G>A (p.Lys600=) c.1599G>A (p.Lys533=) n.129+1207C>T | |
6 | g.151615514G>C | CA366067042 | CCDC170 | c.1782G>C (p.Lys594Asn) n.568G>C c.1800G>C (p.Lys600Asn) c.1599G>C (p.Lys533Asn) n.129+1207C>G | |
6 | g.151615514G= | CA1672962407 | CCDC170 | c.1782G= (p.Lys594=) n.568G= c.1800G= (p.Lys600=) c.1599G= (p.Lys533=) n.129+1207C= | |
6 | g.151615514G>T | CA366067045 | CCDC170 | c.1782G>T (p.Lys594Asn) n.568G>T c.1800G>T (p.Lys600Asn) c.1599G>T (p.Lys533Asn) n.129+1207C>A | dbSNP |
6 | g.151615515G>A | CA366067051 | CCDC170 | c.1783G>A (p.Glu595Lys) n.569G>A c.1801G>A (p.Glu601Lys) c.1600G>A (p.Glu534Lys) n.129+1206C>T | |
6 | g.151615515G>C | CA366067053 | CCDC170 | c.1783G>C (p.Glu595Gln) n.569G>C c.1801G>C (p.Glu601Gln) c.1600G>C (p.Glu534Gln) n.129+1206C>G | |
6 | g.151615515G>T | CA366067057 | CCDC170 | c.1783G>T (p.Glu595Ter) n.569G>T c.1801G>T (p.Glu601Ter) c.1600G>T (p.Glu534Ter) n.129+1206C>A | |
6 | g.151615516A>C | CA366067066 | CCDC170 | c.1784A>C (p.Glu595Ala) n.570A>C c.1802A>C (p.Glu601Ala) c.1601A>C (p.Glu534Ala) n.129+1205T>G | |
6 | g.151615516A>G | CA366067068 | CCDC170 | c.1784A>G (p.Glu595Gly) n.570A>G c.1802A>G (p.Glu601Gly) c.1601A>G (p.Glu534Gly) n.129+1205T>C | |
6 | g.151615516A>T | CA366067085 | CCDC170 | c.1784A>T (p.Glu595Val) n.570A>T c.1802A>T (p.Glu601Val) c.1601A>T (p.Glu534Val) n.129+1205T>A | |
6 | g.151615517G>A | CA452969632 | CCDC170 | c.1785G>A (p.Glu595=) n.571G>A c.1803G>A (p.Glu601=) c.1602G>A (p.Glu534=) n.129+1204C>T | COSMIC |
6 | g.151615517G>C | CA366067093 | CCDC170 | c.1785G>C (p.Glu595Asp) n.571G>C c.1803G>C (p.Glu601Asp) c.1602G>C (p.Glu534Asp) n.129+1204C>G | |
6 | g.151615517G>T | CA366067091 | CCDC170 | c.1785G>T (p.Glu595Asp) n.571G>T c.1803G>T (p.Glu601Asp) c.1602G>T (p.Glu534Asp) n.129+1204C>A | |
6 | g.151615518A= | CA1672962410 | CCDC170 | c.1786A= (p.Lys596=) n.572A= c.1804A= (p.Lys602=) c.1603A= (p.Lys535=) n.129+1203T= | |
6 | g.151615518A>C | CA366067097 | CCDC170 | c.1786A>C (p.Lys596Gln) n.572A>C c.1804A>C (p.Lys602Gln) c.1603A>C (p.Lys535Gln) n.129+1203T>G | |
6 | g.151615518A>G | CA366067100 | CCDC170 | c.1786A>G (p.Lys596Glu) n.572A>G c.1804A>G (p.Lys602Glu) c.1603A>G (p.Lys535Glu) n.129+1203T>C | dbSNP |
6 | g.151615518A>T | CA366067104 | CCDC170 | c.1786A>T (p.Lys596Ter) n.572A>T c.1804A>T (p.Lys602Ter) c.1603A>T (p.Lys535Ter) n.129+1203T>A | |
6 | g.151615519A>C | CA366067106 | CCDC170 | c.1787A>C (p.Lys596Thr) n.573A>C c.1805A>C (p.Lys602Thr) c.1604A>C (p.Lys535Thr) n.129+1202T>G | |
6 | g.151615519A>G | CA366067109 | CCDC170 | c.1787A>G (p.Lys596Arg) n.573A>G c.1805A>G (p.Lys602Arg) c.1604A>G (p.Lys535Arg) n.129+1202T>C | |
6 | g.151615519A>T | CA366067114 | CCDC170 | c.1787A>T (p.Lys596Ile) n.573A>T c.1805A>T (p.Lys602Ile) c.1604A>T (p.Lys535Ile) n.129+1202T>A | |
6 | g.151615520A>C | CA366067121 | CCDC170 | c.1788A>C (p.Lys596Asn) n.574A>C c.1806A>C (p.Lys602Asn) c.1605A>C (p.Lys535Asn) n.129+1201T>G | |
6 | g.151615520A>G | CA452969640 | CCDC170 | c.1788A>G (p.Lys596=) n.574A>G c.1806A>G (p.Lys602=) c.1605A>G (p.Lys535=) n.129+1201T>C | |
6 | g.151615520A>T | CA366067120 | CCDC170 | c.1788A>T (p.Lys596Asn) n.574A>T c.1806A>T (p.Lys602Asn) c.1605A>T (p.Lys535Asn) n.129+1201T>A | |
6 | g.151615521G>A | CA366067125 | CCDC170 | c.1789G>A (p.Ala597Thr) c.1807G>A (p.Ala603Thr) c.1606G>A (p.Ala536Thr) n.129+1200C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.151615521G>C | CA366067128 | CCDC170 | c.1789G>C (p.Ala597Pro) c.1807G>C (p.Ala603Pro) c.1606G>C (p.Ala536Pro) n.129+1200C>G | |
6 | g.151615521G= | CA1672962413 | CCDC170 | c.1789G= (p.Ala597=) c.1807G= (p.Ala603=) c.1606G= (p.Ala536=) n.129+1200C= | |
6 | g.151615521G>T | CA366067129 | CCDC170 | c.1789G>T (p.Ala597Ser) c.1807G>T (p.Ala603Ser) c.1606G>T (p.Ala536Ser) n.129+1200C>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.151615522C>A | CA366067132 | CCDC170 | c.1790C>A (p.Ala597Asp) c.1808C>A (p.Ala603Asp) c.1607C>A (p.Ala536Asp) n.129+1199G>T | |
6 | g.151615522C= | CA1672962416 | CCDC170 | c.1790C= (p.Ala597=) c.1808C= (p.Ala603=) c.1607C= (p.Ala536=) n.129+1199G= | |
6 | g.151615522C>G | CA366067137 | CCDC170 | c.1790C>G (p.Ala597Gly) c.1808C>G (p.Ala603Gly) c.1607C>G (p.Ala536Gly) n.129+1199G>C | |
6 | g.151615522C>T | CA366067140 | CCDC170 | c.1790C>T (p.Ala597Val) c.1808C>T (p.Ala603Val) c.1607C>T (p.Ala536Val) n.129+1199G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.151615523T>A | CA452969646 | CCDC170 | c.1791T>A (p.Ala597=) c.1809T>A (p.Ala603=) c.1608T>A (p.Ala536=) n.129+1198A>T | |
6 | g.151615523T>C | CA452969647 | CCDC170 | c.1791T>C (p.Ala597=) c.1809T>C (p.Ala603=) c.1608T>C (p.Ala536=) n.129+1198A>G | |
6 | g.151615523T>G | CA452969648 | CCDC170 | c.1791T>G (p.Ala597=) c.1809T>G (p.Ala603=) c.1608T>G (p.Ala536=) n.129+1198A>C | |
6 | g.151615524G>A | CA366067143 | CCDC170 | c.1792G>A (p.Glu598Lys) c.1810G>A (p.Glu604Lys) c.1609G>A (p.Glu537Lys) n.129+1197C>T | |
6 | g.151615524G>C | CA366067149 | CCDC170 | c.1792G>C (p.Glu598Gln) c.1810G>C (p.Glu604Gln) c.1609G>C (p.Glu537Gln) n.129+1197C>G | |
6 | g.151615524G>T | CA366067147 | CCDC170 | c.1792G>T (p.Glu598Ter) c.1810G>T (p.Glu604Ter) c.1609G>T (p.Glu537Ter) n.129+1197C>A | |
6 | g.151615525A>C | CA366067152 | CCDC170 | c.1793A>C (p.Glu598Ala) c.1811A>C (p.Glu604Ala) c.1610A>C (p.Glu537Ala) n.129+1196T>G | gnomAD v4 |
6 | g.151615525A>G | CA366067153 | CCDC170 | c.1793A>G (p.Glu598Gly) c.1811A>G (p.Glu604Gly) c.1610A>G (p.Glu537Gly) n.129+1196T>C | |
6 | g.151615525A>T | CA366067155 | CCDC170 | c.1793A>T (p.Glu598Val) c.1811A>T (p.Glu604Val) c.1610A>T (p.Glu537Val) n.129+1196T>A | |
6 | g.151615526G>A | CA452969654 | CCDC170 | c.1794G>A (p.Glu598=) c.1812G>A (p.Glu604=) c.1611G>A (p.Glu537=) n.129+1195C>T | COSMIC |
6 | g.151615526G>C | CA366067159 | CCDC170 | c.1794G>C (p.Glu598Asp) c.1812G>C (p.Glu604Asp) c.1611G>C (p.Glu537Asp) n.129+1195C>G | |
6 | g.151615526G>T | CA366067161 | CCDC170 | c.1794G>T (p.Glu598Asp) c.1812G>T (p.Glu604Asp) c.1611G>T (p.Glu537Asp) n.129+1195C>A | |
6 | g.151615527A= | CA1672962418 | CCDC170 | c.1795A= (p.Lys599=) c.1813A= (p.Lys605=) c.1612A= (p.Lys538=) n.129+1194T= | |
6 | g.151615527A>C | CA366067165 | CCDC170 | c.1795A>C (p.Lys599Gln) c.1813A>C (p.Lys605Gln) c.1612A>C (p.Lys538Gln) n.129+1194T>G | |
6 | g.151615527A>G | CA4051983 | CCDC170 | c.1795A>G (p.Lys599Glu) c.1813A>G (p.Lys605Glu) c.1612A>G (p.Lys538Glu) n.129+1194T>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.151615527A>T | CA366067166 | CCDC170 | c.1795A>T (p.Lys599Ter) c.1813A>T (p.Lys605Ter) c.1612A>T (p.Lys538Ter) n.129+1194T>A | |
6 | g.151615531del | CA645549288 | CCDC170 | c.1799del (p.Lys600SerfsTer26) c.1817del (p.Lys606SerfsTer26) c.1616del (p.Lys539SerfsTer26) n.129+1194del | COSMIC |
6 | g.151615528A= | CA1672962423 | CCDC170 | c.1796A= (p.Lys599=) c.1814A= (p.Lys605=) c.1613A= (p.Lys538=) n.129+1193T= | |
6 | g.151615528A>C | CA366067167 | CCDC170 | c.1796A>C (p.Lys599Thr) c.1814A>C (p.Lys605Thr) c.1613A>C (p.Lys538Thr) n.129+1193T>G | |
6 | g.151615528A>G | CA366067169 | CCDC170 | c.1796A>G (p.Lys599Arg) c.1814A>G (p.Lys605Arg) c.1613A>G (p.Lys538Arg) n.129+1193T>C | |
6 | g.151615528A>T | CA366067171 | CCDC170 | c.1796A>T (p.Lys599Ile) c.1814A>T (p.Lys605Ile) c.1613A>T (p.Lys538Ile) n.129+1193T>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.151615528_151615529insCTCCTTTTGTATTT | CA2512197948 | CCDC170 | c.1796_1797insCTCCTTTTGTATTT (p.Lys599AsnfsTer6) c.1814_1815insCTCCTTTTGTATTT (p.Lys605AsnfsTer6) c.1613_1614insCTCCTTTTGTATTT (p.Lys538AsnfsTer6) n.129+1192_129+1193insAAATACAAAAGGAG | |
6 | g.151615529A>C | CA366067175 | CCDC170 | c.1797A>C (p.Lys599Asn) c.1815A>C (p.Lys605Asn) c.1614A>C (p.Lys538Asn) n.129+1192T>G | |
6 | g.151615529A>G | CA452969663 | CCDC170 | c.1797A>G (p.Lys599=) c.1815A>G (p.Lys605=) c.1614A>G (p.Lys538=) n.129+1192T>C | |
6 | g.151615529A>T | CA366067177 | CCDC170 | c.1797A>T (p.Lys599Asn) c.1815A>T (p.Lys605Asn) c.1614A>T (p.Lys538Asn) n.129+1192T>A | |
6 | g.151615530A>C | CA366067181 | CCDC170 | c.1798A>C (p.Lys600Gln) c.1816A>C (p.Lys606Gln) c.1615A>C (p.Lys539Gln) n.129+1191T>G | |
6 | g.151615530A>G | CA366067185 | CCDC170 | c.1798A>G (p.Lys600Glu) c.1816A>G (p.Lys606Glu) c.1615A>G (p.Lys539Glu) n.129+1191T>C | |
6 | g.151615530A>T | CA366067183 | CCDC170 | c.1798A>T (p.Lys600Ter) c.1816A>T (p.Lys606Ter) c.1615A>T (p.Lys539Ter) n.129+1191T>A | |
6 | g.151615531A>C | CA366067207 | CCDC170 | c.1799A>C (p.Lys600Thr) c.1817A>C (p.Lys606Thr) c.1616A>C (p.Lys539Thr) n.129+1190T>G | |
6 | g.151615531A>G | CA366067208 | CCDC170 | c.1799A>G (p.Lys600Arg) c.1817A>G (p.Lys606Arg) c.1616A>G (p.Lys539Arg) n.129+1190T>C | COSMIC |
6 | g.151615531A>T | CA366067213 | CCDC170 | c.1799A>T (p.Lys600Met) c.1817A>T (p.Lys606Met) c.1616A>T (p.Lys539Met) n.129+1190T>A | |
6 | g.151615532G>A | CA452969668 | CCDC170 | c.1800G>A (p.Lys600=) c.1818G>A (p.Lys606=) c.1617G>A (p.Lys539=) n.129+1189C>T | |
6 | g.151615532G>C | CA4051984 | CCDC170 | c.1800G>C (p.Lys600Asn) c.1818G>C (p.Lys606Asn) c.1617G>C (p.Lys539Asn) n.129+1189C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.151615532G= | CA1672962426 | CCDC170 | c.1800G= (p.Lys600=) c.1818G= (p.Lys606=) c.1617G= (p.Lys539=) n.129+1189C= | |
6 | g.151615532G>T | CA366067220 | CCDC170 | c.1800G>T (p.Lys600Asn) c.1818G>T (p.Lys606Asn) c.1617G>T (p.Lys539Asn) n.129+1189C>A | gnomAD v4 |
6 | g.151615533C>A | CA366067223 | CCDC170 | c.1801C>A (p.Leu601Ile) c.1819C>A (p.Leu607Ile) c.1618C>A (p.Leu540Ile) n.129+1188G>T | |
6 | g.151615533C= | CA1672962427 | CCDC170 | c.1801C= (p.Leu601=) c.1819C= (p.Leu607=) c.1618C= (p.Leu540=) n.129+1188G= | |
6 | g.151615533C>G | CA366067226 | CCDC170 | c.1801C>G (p.Leu601Val) c.1819C>G (p.Leu607Val) c.1618C>G (p.Leu540Val) n.129+1188G>C | |
6 | g.151615533C>T | CA4051985 | CCDC170 | c.1801C>T (p.Leu601Phe) c.1819C>T (p.Leu607Phe) c.1618C>T (p.Leu540Phe) n.129+1188G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.151615534T>A | CA366067242 | CCDC170 | c.1802T>A (p.Leu601His) c.1820T>A (p.Leu607His) c.1619T>A (p.Leu540His) n.129+1187A>T | |
6 | g.151615534T>C | CA366067245 | CCDC170 | c.1802T>C (p.Leu601Pro) c.1820T>C (p.Leu607Pro) c.1619T>C (p.Leu540Pro) n.129+1187A>G | |
6 | g.151615534T>G | CA366067248 | CCDC170 | c.1802T>G (p.Leu601Arg) c.1820T>G (p.Leu607Arg) c.1619T>G (p.Leu540Arg) n.129+1187A>C | |
6 | g.151615535C>A | CA452969678 | CCDC170 | c.1803C>A (p.Leu601=) c.1821C>A (p.Leu607=) c.1620C>A (p.Leu540=) n.129+1186G>T | |
6 | g.151615535C>G | CA452969679 | CCDC170 | c.1803C>G (p.Leu601=) c.1821C>G (p.Leu607=) c.1620C>G (p.Leu540=) n.129+1186G>C | |
6 | g.151615535C>T | CA452969680 | CCDC170 | c.1803C>T (p.Leu601=) c.1821C>T (p.Leu607=) c.1620C>T (p.Leu540=) n.129+1186G>A | |
6 | g.151615536A>C | CA366067259 | CCDC170 | c.1804A>C (p.Met602Leu) c.1822A>C (p.Met608Leu) c.1621A>C (p.Met541Leu) n.129+1185T>G | gnomAD v4 |
6 | g.151615536A>G | CA366067254 | CCDC170 | c.1804A>G (p.Met602Val) c.1822A>G (p.Met608Val) c.1621A>G (p.Met541Val) n.129+1185T>C | |
6 | g.151615536A>T | CA366067253 | CCDC170 | c.1804A>T (p.Met602Leu) c.1822A>T (p.Met608Leu) c.1621A>T (p.Met541Leu) n.129+1185T>A | |
6 | g.151615537T>A | CA366067260 | CCDC170 | c.1805T>A (p.Met602Lys) c.1823T>A (p.Met608Lys) c.1622T>A (p.Met541Lys) n.129+1184A>T | gnomAD v4 |
6 | g.151615537T>C | CA366067261 | CCDC170 | c.1805T>C (p.Met602Thr) c.1823T>C (p.Met608Thr) c.1622T>C (p.Met541Thr) n.129+1184A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.151615537T>G | CA366067262 | CCDC170 | c.1805T>G (p.Met602Arg) c.1823T>G (p.Met608Arg) c.1622T>G (p.Met541Arg) n.129+1184A>C | |
6 | g.151615537T= | CA1672962429 | CCDC170 | c.1805T= (p.Met602=) c.1823T= (p.Met608=) c.1622T= (p.Met541=) n.129+1184A= | |
6 | g.151615537_151615538delinsTG | CA1672962428 | CCDC170 | c.1805_1806delinsTG (p.Met602=) c.1823_1824delinsTG (p.Met608=) c.1622_1623delinsTG (p.Met541=) n.129+1183_129+1184delinsCA | |
6 | g.151615538del | CA571437259 | CCDC170 | c.1806del (p.Met602IlefsTer24) c.1824del (p.Met608IlefsTer24) c.1623del (p.Met541IlefsTer24) n.129+1183del | dbSNP gnomAD v2 gnomAD v4 |
6 | g.151615538G>A | CA366067266 | CCDC170 | c.1806G>A (p.Met602Ile) c.1824G>A (p.Met608Ile) c.1623G>A (p.Met541Ile) n.129+1183C>T | gnomAD v4 |
6 | g.151615538G>C | CA366067269 | CCDC170 | c.1806G>C (p.Met602Ile) c.1824G>C (p.Met608Ile) c.1623G>C (p.Met541Ile) n.129+1183C>G | |
6 | g.151615538G>T | CA366067275 | CCDC170 | c.1806G>T (p.Met602Ile) c.1824G>T (p.Met608Ile) c.1623G>T (p.Met541Ile) n.129+1183C>A | COSMIC |
6 | g.151615539T>A | CA366067278 | CCDC170 | c.1807T>A (p.Ser603Thr) c.1825T>A (p.Ser609Thr) c.1624T>A (p.Ser542Thr) n.129+1182A>T | |
6 | g.151615539T>C | CA366067281 | CCDC170 | c.1807T>C (p.Ser603Pro) c.1825T>C (p.Ser609Pro) c.1624T>C (p.Ser542Pro) n.129+1182A>G | |
6 | g.151615539T>G | CA150155291 | CCDC170 | c.1807T>G (p.Ser603Ala) c.1825T>G (p.Ser609Ala) c.1624T>G (p.Ser542Ala) n.129+1182A>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.151615539T= | CA1672962430 | CCDC170 | c.1807T= (p.Ser603=) c.1825T= (p.Ser609=) c.1624T= (p.Ser542=) n.129+1182A= | |
6 | g.151615540C>A | CA366067296 | CCDC170 | c.1808C>A (p.Ser603Tyr) c.1826C>A (p.Ser609Tyr) c.1625C>A (p.Ser542Tyr) n.129+1181G>T | |
6 | g.151615540C>G | CA366067297 | CCDC170 | c.1808C>G (p.Ser603Cys) c.1826C>G (p.Ser609Cys) c.1625C>G (p.Ser542Cys) n.129+1181G>C | |
6 | g.151615540C>T | CA366067298 | CCDC170 | c.1808C>T (p.Ser603Phe) c.1826C>T (p.Ser609Phe) c.1625C>T (p.Ser542Phe) n.129+1181G>A | |
6 | g.151615541T>A | CA452969695 | CCDC170 | c.1809T>A (p.Ser603=) c.1827T>A (p.Ser609=) c.1626T>A (p.Ser542=) n.129+1180A>T | |
6 | g.151615541T>C | CA452969696 | CCDC170 | c.1809T>C (p.Ser603=) c.1827T>C (p.Ser609=) c.1626T>C (p.Ser542=) n.129+1180A>G | dbSNP |
6 | g.151615541T>G | CA452969697 | CCDC170 | c.1809T>G (p.Ser603=) c.1827T>G (p.Ser609=) c.1626T>G (p.Ser542=) n.129+1180A>C | |
6 | g.151615542G>A | CA170714 | CCDC170 | c.1810G>A (p.Val604Ile) c.1828G>A (p.Val610Ile) c.1627G>A (p.Val543Ile) n.129+1179C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.151615542G>C | CA366067301 | CCDC170 | c.1810G>C (p.Val604Leu) c.1828G>C (p.Val610Leu) c.1627G>C (p.Val543Leu) n.129+1179C>G | |
6 | g.151615542G= | CA1630834598 | CCDC170 | c.1810G= (p.Val604=) c.1828G= (p.Val610=) c.1627G= (p.Val543=) n.129+1179C= | |
6 | g.151615542G>T | CA366067299 | CCDC170 | c.1810G>T (p.Val604Phe) c.1828G>T (p.Val610Phe) c.1627G>T (p.Val543Phe) n.129+1179C>A | |
6 | g.151615543T>A | CA366067307 | CCDC170 | c.1811T>A (p.Val604Asp) c.1829T>A (p.Val610Asp) c.1628T>A (p.Val543Asp) n.129+1178A>T | |
6 | g.151615543T>C | CA366067311 | CCDC170 | c.1811T>C (p.Val604Ala) c.1829T>C (p.Val610Ala) c.1628T>C (p.Val543Ala) n.129+1178A>G | |
6 | g.151615543T>G | CA366067314 | CCDC170 | c.1811T>G (p.Val604Gly) c.1829T>G (p.Val610Gly) c.1628T>G (p.Val543Gly) n.129+1178A>C | |
6 | g.151615544C>A | CA452969701 | CCDC170 | c.1812C>A (p.Val604=) c.1830C>A (p.Val610=) c.1629C>A (p.Val543=) n.129+1177G>T | |
6 | g.151615544C>G | CA452969703 | CCDC170 | c.1812C>G (p.Val604=) c.1830C>G (p.Val610=) c.1629C>G (p.Val543=) n.129+1177G>C | |
6 | g.151615544C>T | CA452969705 | CCDC170 | c.1812C>T (p.Val604=) c.1830C>T (p.Val610=) c.1629C>T (p.Val543=) n.129+1177G>A | |
6 | g.151615545A>C | CA366067317 | CCDC170 | c.1813A>C (p.Lys605Gln) c.1831A>C (p.Lys611Gln) c.1630A>C (p.Lys544Gln) n.129+1176T>G | COSMIC |
6 | g.151615545A>G | CA366067321 | CCDC170 | c.1813A>G (p.Lys605Glu) c.1831A>G (p.Lys611Glu) c.1630A>G (p.Lys544Glu) n.129+1176T>C | |
6 | g.151615545A>T | CA366067324 | CCDC170 | c.1813A>T (p.Lys605Ter) c.1831A>T (p.Lys611Ter) c.1630A>T (p.Lys544Ter) n.129+1176T>A | |
6 | g.151615546A= | CA1672962438 | CCDC170 | c.1814A= (p.Lys605=) c.1832A= (p.Lys611=) c.1631A= (p.Lys544=) n.129+1175T= | |
6 | g.151615546A>C | CA366067337 | CCDC170 | c.1814A>C (p.Lys605Thr) c.1832A>C (p.Lys611Thr) c.1631A>C (p.Lys544Thr) n.129+1175T>G | gnomAD v4 |
6 | g.151615546A>G | CA150155298 | CCDC170 | c.1814A>G (p.Lys605Arg) c.1832A>G (p.Lys611Arg) c.1631A>G (p.Lys544Arg) n.129+1175T>C | dbSNP gnomAD v4 |
6 | g.151615546A>T | CA366067333 | CCDC170 | c.1814A>T (p.Lys605Met) c.1832A>T (p.Lys611Met) c.1631A>T (p.Lys544Met) n.129+1175T>A |