UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.18539626_18539634delinsAAATCCAAG | CA1894174108 | CACNB2,NSUN6 | c.1741_1749delinsAAATCCAAG (p.Lys581=) c.1606_1614delinsAAATCCAAG (p.Lys536=) c.1729_1737delinsAAATCCAAG (p.Lys577=) c.1801_1809delinsAAATCCAAG (p.Lys601=) c.1885_1893delinsAAATCCAAG (p.Lys629=) c.1723_1731delinsAAATCCAAG (p.Lys575=) c.1510_1518delinsAAATCCAAG (p.Lys504=) c.1687_1695delinsAAATCCAAG (p.Lys563=) c.*1026_*1034delinsAAATCCAAG (n.*1026_*1034delinsAAATCCAAG) c.1627_1635delinsAAATCCAAG (p.Lys543=) c.*1159_*1167delinsAAATCCAAG (n.*1159_*1167delinsAAATCCAAG) c.1442_1450delinsAAATCCAAG (n.1442_1450delinsAAATCCAAG) c.*1124_*1132delinsAAATCCAAG (n.*1124_*1132delinsAAATCCAAG) c.1705_1713delinsAAATCCAAG (p.Lys569=) c.*985_*993delinsAAATCCAAG (n.*985_*993delinsAAATCCAAG) c.1813_1821delinsAAATCCAAG (p.Lys605=) c.1135_1143delinsAAATCCAAG (p.Lys379=) c.1720_1728delinsAAATCCAAG (p.Lys574=) c.1589_1597delinsAAATCCAAG (n.1589_1597delinsAAATCCAAG) c.397_405delinsAAATCCAAG (p.Lys133=) c.970_978delinsAAATCCAAG (p.Lys324=) c.1648_1656delinsAAATCCAAG (p.Lys550=) c.1771_1779delinsAAATCCAAG (p.Lys591=) c.1045_1053delinsAAATCCAAG (p.Lys349=) c.1651_1659delinsAAATCCAAG (p.Lys551=) n.2423+2435_2423+2443delinsCTTGGATTT n.2010_2018delinsAAATCCAAG | |
| 10 | g.18539627_18539634del | CA592060479 | CACNB2,NSUN6 | c.1742_1749del (p.Lys581ArgfsTer5) c.1607_1614del (p.Lys536ArgfsTer5) c.1730_1737del (p.Lys577ArgfsTer5) c.1802_1809del (p.Lys601ArgfsTer5) c.1886_1893del (p.Lys629ArgfsTer5) c.1724_1731del (p.Lys575ArgfsTer5) c.1511_1518del (p.Lys504ArgfsTer5) c.1688_1695del (p.Lys563ArgfsTer5) c.*1027_*1034del (n.*1027_*1034del) c.1628_1635del (p.Lys543ArgfsTer5) c.*1160_*1167del (n.*1160_*1167del) c.1443_1450del (n.1443_1450del) c.*1125_*1132del (n.*1125_*1132del) c.1706_1713del (p.Lys569ArgfsTer5) c.*986_*993del (n.*986_*993del) c.1814_1821del (p.Lys605ArgfsTer5) c.1136_1143del (p.Lys379ArgfsTer5) c.1721_1728del (p.Lys574ArgfsTer5) c.1590_1597del (n.1590_1597del) c.398_405del (p.Lys133ArgfsTer5) c.971_978del (p.Lys324ArgfsTer5) c.1649_1656del (p.Lys550ArgfsTer5) c.1772_1779del (p.Lys591ArgfsTer5) c.1046_1053del (p.Lys349ArgfsTer5) c.1652_1659del (p.Lys551ArgfsTer5) n.2423+2435_2423+2442del n.2011_2018del | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.18539628_18539663dup | CA5430194 | CACNB2,NSUN6 | c.1743_1778dup (p.Val593_Ile594insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1608_1643dup (p.Val548_Ile549insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1731_1766dup (p.Val589_Ile590insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1803_1838dup (p.Val613_Ile614insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1887_1922dup (p.Val641_Ile642insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1725_1760dup (p.Val587_Ile588insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1512_1547dup (p.Val516_Ile517insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1689_1724dup (p.Val575_Ile576insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.*1028_*1063dup (n.*1028_*1063dup) c.1629_1664dup (p.Val555_Ile556insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.*1161_*1196dup (n.*1161_*1196dup) c.1444_1479dup (n.1444_1479dup) c.*1126_*1161dup (n.*1126_*1161dup) c.1707_1742dup (p.Val581_Ile582insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.*987_*1022dup (n.*987_*1022dup) c.1815_1850dup (p.Val617_Ile618insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1137_1172dup (p.Val391_Ile392insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1722_1757dup (p.Val586_Ile587insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1591_1626dup (n.1591_1626dup) c.399_434dup (p.Val145_Ile146insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.972_1007dup (p.Val336_Ile337insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1650_1685dup (p.Val562_Ile563insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1773_1808dup (p.Val603_Ile604insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1047_1082dup (p.Val361_Ile362insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1653_1688dup (p.Val563_Ile564insSerLysAspArgTyrCysGluLysAspGlyGluVal) n.2423+2406_2423+2441dup n.2012_2047dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.18539632A= | CA1894174132 | CACNB2,NSUN6 | c.1747A= (p.Lys583=) c.1612A= (p.Lys538=) c.1735A= (p.Lys579=) c.1807A= (p.Lys603=) c.1891A= (p.Lys631=) c.1729A= (p.Lys577=) c.1516A= (p.Lys506=) c.1693A= (p.Lys565=) c.*1032A= (n.*1032A=) c.1633A= (p.Lys545=) c.*1165A= (n.*1165A=) c.1448A= (n.1448A=) c.*1130A= (n.*1130A=) c.1711A= (p.Lys571=) c.*991A= (n.*991A=) c.1819A= (p.Lys607=) c.1141A= (p.Lys381=) c.1726A= (p.Lys576=) c.1595A= (n.1595A=) c.403A= (p.Lys135=) c.976A= (p.Lys326=) c.1654A= (p.Lys552=) c.1777A= (p.Lys593=) c.1051A= (p.Lys351=) c.1657A= (p.Lys553=) n.2423+2437T= n.2016A= | |
| 10 | g.18539632A>C | CA376072763 | CACNB2,NSUN6 | c.1747A>C (p.Lys583Gln) c.1612A>C (p.Lys538Gln) c.1735A>C (p.Lys579Gln) c.1807A>C (p.Lys603Gln) c.1891A>C (p.Lys631Gln) c.1729A>C (p.Lys577Gln) c.1516A>C (p.Lys506Gln) c.1693A>C (p.Lys565Gln) c.*1032A>C (n.*1032A>C) c.1633A>C (p.Lys545Gln) c.*1165A>C (n.*1165A>C) c.1448A>C (n.1448A>C) c.*1130A>C (n.*1130A>C) c.1711A>C (p.Lys571Gln) c.*991A>C (n.*991A>C) c.1819A>C (p.Lys607Gln) c.1141A>C (p.Lys381Gln) c.1726A>C (p.Lys576Gln) c.1595A>C (n.1595A>C) c.403A>C (p.Lys135Gln) c.976A>C (p.Lys326Gln) c.1654A>C (p.Lys552Gln) c.1777A>C (p.Lys593Gln) c.1051A>C (p.Lys351Gln) c.1657A>C (p.Lys553Gln) n.2423+2437T>G n.2016A>C | |
| 10 | g.18539632A>G | CA5430196 | CACNB2,NSUN6 | c.1747A>G (p.Lys583Glu) c.1612A>G (p.Lys538Glu) c.1735A>G (p.Lys579Glu) c.1807A>G (p.Lys603Glu) c.1891A>G (p.Lys631Glu) c.1729A>G (p.Lys577Glu) c.1516A>G (p.Lys506Glu) c.1693A>G (p.Lys565Glu) c.*1032A>G (n.*1032A>G) c.1633A>G (p.Lys545Glu) c.*1165A>G (n.*1165A>G) c.1448A>G (n.1448A>G) c.*1130A>G (n.*1130A>G) c.1711A>G (p.Lys571Glu) c.*991A>G (n.*991A>G) c.1819A>G (p.Lys607Glu) c.1141A>G (p.Lys381Glu) c.1726A>G (p.Lys576Glu) c.1595A>G (n.1595A>G) c.403A>G (p.Lys135Glu) c.976A>G (p.Lys326Glu) c.1654A>G (p.Lys552Glu) c.1777A>G (p.Lys593Glu) c.1051A>G (p.Lys351Glu) c.1657A>G (p.Lys553Glu) n.2423+2437T>C n.2016A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.18539632A>T | CA376072764 | CACNB2,NSUN6 | c.1747A>T (p.Lys583Ter) c.1612A>T (p.Lys538Ter) c.1735A>T (p.Lys579Ter) c.1807A>T (p.Lys603Ter) c.1891A>T (p.Lys631Ter) c.1729A>T (p.Lys577Ter) c.1516A>T (p.Lys506Ter) c.1693A>T (p.Lys565Ter) c.*1032A>T (n.*1032A>T) c.1633A>T (p.Lys545Ter) c.*1165A>T (n.*1165A>T) c.1448A>T (n.1448A>T) c.*1130A>T (n.*1130A>T) c.1711A>T (p.Lys571Ter) c.*991A>T (n.*991A>T) c.1819A>T (p.Lys607Ter) c.1141A>T (p.Lys381Ter) c.1726A>T (p.Lys576Ter) c.1595A>T (n.1595A>T) c.403A>T (p.Lys135Ter) c.976A>T (p.Lys326Ter) c.1654A>T (p.Lys552Ter) c.1777A>T (p.Lys593Ter) c.1051A>T (p.Lys351Ter) c.1657A>T (p.Lys553Ter) n.2423+2437T>A n.2016A>T | dbSNP |
| 10 | g.18539633A= | CA1894174143 | CACNB2,NSUN6 | c.1748A= (p.Lys583=) c.1613A= (p.Lys538=) c.1736A= (p.Lys579=) c.1808A= (p.Lys603=) c.1892A= (p.Lys631=) c.1730A= (p.Lys577=) c.1517A= (p.Lys506=) c.1694A= (p.Lys565=) c.*1033A= (n.*1033A=) c.1634A= (p.Lys545=) c.*1166A= (n.*1166A=) c.1449A= (n.1449A=) c.*1131A= (n.*1131A=) c.1712A= (p.Lys571=) c.*992A= (n.*992A=) c.1820A= (p.Lys607=) c.1142A= (p.Lys381=) c.1727A= (p.Lys576=) c.1596A= (n.1596A=) c.404A= (p.Lys135=) c.977A= (p.Lys326=) c.1655A= (p.Lys552=) c.1778A= (p.Lys593=) c.1052A= (p.Lys351=) c.1658A= (p.Lys553=) n.2423+2436T= n.2017A= | |
| 10 | g.18539633A>C | CA376072765 | CACNB2,NSUN6 | c.1748A>C (p.Lys583Thr) c.1613A>C (p.Lys538Thr) c.1736A>C (p.Lys579Thr) c.1808A>C (p.Lys603Thr) c.1892A>C (p.Lys631Thr) c.1730A>C (p.Lys577Thr) c.1517A>C (p.Lys506Thr) c.1694A>C (p.Lys565Thr) c.*1033A>C (n.*1033A>C) c.1634A>C (p.Lys545Thr) c.*1166A>C (n.*1166A>C) c.1449A>C (n.1449A>C) c.*1131A>C (n.*1131A>C) c.1712A>C (p.Lys571Thr) c.*992A>C (n.*992A>C) c.1820A>C (p.Lys607Thr) c.1142A>C (p.Lys381Thr) c.1727A>C (p.Lys576Thr) c.1596A>C (n.1596A>C) c.404A>C (p.Lys135Thr) c.977A>C (p.Lys326Thr) c.1655A>C (p.Lys552Thr) c.1778A>C (p.Lys593Thr) c.1052A>C (p.Lys351Thr) c.1658A>C (p.Lys553Thr) n.2423+2436T>G n.2017A>C | |
| 10 | g.18539633A>G | CA236662 | CACNB2,NSUN6 | c.1748A>G (p.Lys583Arg) c.1613A>G (p.Lys538Arg) c.1736A>G (p.Lys579Arg) c.1808A>G (p.Lys603Arg) c.1892A>G (p.Lys631Arg) c.1730A>G (p.Lys577Arg) c.1517A>G (p.Lys506Arg) c.1694A>G (p.Lys565Arg) c.*1033A>G (n.*1033A>G) c.1634A>G (p.Lys545Arg) c.*1166A>G (n.*1166A>G) c.1449A>G (n.1449A>G) c.*1131A>G (n.*1131A>G) c.1712A>G (p.Lys571Arg) c.*992A>G (n.*992A>G) c.1820A>G (p.Lys607Arg) c.1142A>G (p.Lys381Arg) c.1727A>G (p.Lys576Arg) c.1596A>G (n.1596A>G) c.404A>G (p.Lys135Arg) c.977A>G (p.Lys326Arg) c.1655A>G (p.Lys552Arg) c.1778A>G (p.Lys593Arg) c.1052A>G (p.Lys351Arg) c.1658A>G (p.Lys553Arg) n.2423+2436T>C n.2017A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.18539633A>T | CA376072766 | CACNB2,NSUN6 | c.1748A>T (p.Lys583Met) c.1613A>T (p.Lys538Met) c.1736A>T (p.Lys579Met) c.1808A>T (p.Lys603Met) c.1892A>T (p.Lys631Met) c.1730A>T (p.Lys577Met) c.1517A>T (p.Lys506Met) c.1694A>T (p.Lys565Met) c.*1033A>T (n.*1033A>T) c.1634A>T (p.Lys545Met) c.*1166A>T (n.*1166A>T) c.1449A>T (n.1449A>T) c.*1131A>T (n.*1131A>T) c.1712A>T (p.Lys571Met) c.*992A>T (n.*992A>T) c.1820A>T (p.Lys607Met) c.1142A>T (p.Lys381Met) c.1727A>T (p.Lys576Met) c.1596A>T (n.1596A>T) c.404A>T (p.Lys135Met) c.977A>T (p.Lys326Met) c.1655A>T (p.Lys552Met) c.1778A>T (p.Lys593Met) c.1052A>T (p.Lys351Met) c.1658A>T (p.Lys553Met) n.2423+2436T>A n.2017A>T | |
| 10 | g.18539634G>A | CA203167454 | CACNB2,NSUN6 | c.1749G>A (p.Lys583=) c.1614G>A (p.Lys538=) c.1737G>A (p.Lys579=) c.1809G>A (p.Lys603=) c.1893G>A (p.Lys631=) c.1731G>A (p.Lys577=) c.1518G>A (p.Lys506=) c.1695G>A (p.Lys565=) c.*1034G>A (n.*1034G>A) c.1635G>A (p.Lys545=) c.*1167G>A (n.*1167G>A) c.1450G>A (n.1450G>A) c.*1132G>A (n.*1132G>A) c.1713G>A (p.Lys571=) c.*993G>A (n.*993G>A) c.1821G>A (p.Lys607=) c.1143G>A (p.Lys381=) c.1728G>A (p.Lys576=) c.1597G>A (n.1597G>A) c.405G>A (p.Lys135=) c.978G>A (p.Lys326=) c.1656G>A (p.Lys552=) c.1779G>A (p.Lys593=) c.1053G>A (p.Lys351=) c.1659G>A (p.Lys553=) n.2423+2435C>T n.2018G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 10 | g.18539634G>C | CA5430197 | CACNB2,NSUN6 | c.1749G>C (p.Lys583Asn) c.1614G>C (p.Lys538Asn) c.1737G>C (p.Lys579Asn) c.1809G>C (p.Lys603Asn) c.1893G>C (p.Lys631Asn) c.1731G>C (p.Lys577Asn) c.1518G>C (p.Lys506Asn) c.1695G>C (p.Lys565Asn) c.*1034G>C (n.*1034G>C) c.1635G>C (p.Lys545Asn) c.*1167G>C (n.*1167G>C) c.1450G>C (n.1450G>C) c.*1132G>C (n.*1132G>C) c.1713G>C (p.Lys571Asn) c.*993G>C (n.*993G>C) c.1821G>C (p.Lys607Asn) c.1143G>C (p.Lys381Asn) c.1728G>C (p.Lys576Asn) c.1597G>C (n.1597G>C) c.405G>C (p.Lys135Asn) c.978G>C (p.Lys326Asn) c.1656G>C (p.Lys552Asn) c.1779G>C (p.Lys593Asn) c.1053G>C (p.Lys351Asn) c.1659G>C (p.Lys553Asn) n.2423+2435C>G n.2018G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.18539634G= | CA1894174152 | CACNB2,NSUN6 | c.1749G= (p.Lys583=) c.1614G= (p.Lys538=) c.1737G= (p.Lys579=) c.1809G= (p.Lys603=) c.1893G= (p.Lys631=) c.1731G= (p.Lys577=) c.1518G= (p.Lys506=) c.1695G= (p.Lys565=) c.*1034G= (n.*1034G=) c.1635G= (p.Lys545=) c.*1167G= (n.*1167G=) c.1450G= (n.1450G=) c.*1132G= (n.*1132G=) c.1713G= (p.Lys571=) c.*993G= (n.*993G=) c.1821G= (p.Lys607=) c.1143G= (p.Lys381=) c.1728G= (p.Lys576=) c.1597G= (n.1597G=) c.405G= (p.Lys135=) c.978G= (p.Lys326=) c.1656G= (p.Lys552=) c.1779G= (p.Lys593=) c.1053G= (p.Lys351=) c.1659G= (p.Lys553=) n.2423+2435C= n.2018G= | |
| 10 | g.18539634G>T | CA376072767 | CACNB2,NSUN6 | c.1749G>T (p.Lys583Asn) c.1614G>T (p.Lys538Asn) c.1737G>T (p.Lys579Asn) c.1809G>T (p.Lys603Asn) c.1893G>T (p.Lys631Asn) c.1731G>T (p.Lys577Asn) c.1518G>T (p.Lys506Asn) c.1695G>T (p.Lys565Asn) c.*1034G>T (n.*1034G>T) c.1635G>T (p.Lys545Asn) c.*1167G>T (n.*1167G>T) c.1450G>T (n.1450G>T) c.*1132G>T (n.*1132G>T) c.1713G>T (p.Lys571Asn) c.*993G>T (n.*993G>T) c.1821G>T (p.Lys607Asn) c.1143G>T (p.Lys381Asn) c.1728G>T (p.Lys576Asn) c.1597G>T (n.1597G>T) c.405G>T (p.Lys135Asn) c.978G>T (p.Lys326Asn) c.1656G>T (p.Lys552Asn) c.1779G>T (p.Lys593Asn) c.1053G>T (p.Lys351Asn) c.1659G>T (p.Lys553Asn) n.2423+2435C>A n.2018G>T | |
| 10 | g.18539635G>A | CA376072768 | CACNB2,NSUN6 | c.1750G>A (p.Asp584Asn) c.1615G>A (p.Asp539Asn) c.1738G>A (p.Asp580Asn) c.1810G>A (p.Asp604Asn) c.1894G>A (p.Asp632Asn) c.1732G>A (p.Asp578Asn) c.1519G>A (p.Asp507Asn) c.1696G>A (p.Asp566Asn) c.*1035G>A (n.*1035G>A) c.1636G>A (p.Asp546Asn) c.*1168G>A (n.*1168G>A) c.1451G>A (n.1451G>A) c.*1133G>A (n.*1133G>A) c.1714G>A (p.Asp572Asn) c.*994G>A (n.*994G>A) c.1822G>A (p.Asp608Asn) c.1144G>A (p.Asp382Asn) c.1729G>A (p.Asp577Asn) c.1598G>A (n.1598G>A) c.406G>A (p.Asp136Asn) c.979G>A (p.Asp327Asn) c.1657G>A (p.Asp553Asn) c.1780G>A (p.Asp594Asn) c.1054G>A (p.Asp352Asn) c.1660G>A (p.Asp554Asn) n.2423+2434C>T n.2019G>A | gnomAD v4 |
| 10 | g.18539635G>C | CA376072770 | CACNB2,NSUN6 | c.1750G>C (p.Asp584His) c.1615G>C (p.Asp539His) c.1738G>C (p.Asp580His) c.1810G>C (p.Asp604His) c.1894G>C (p.Asp632His) c.1732G>C (p.Asp578His) c.1519G>C (p.Asp507His) c.1696G>C (p.Asp566His) c.*1035G>C (n.*1035G>C) c.1636G>C (p.Asp546His) c.*1168G>C (n.*1168G>C) c.1451G>C (n.1451G>C) c.*1133G>C (n.*1133G>C) c.1714G>C (p.Asp572His) c.*994G>C (n.*994G>C) c.1822G>C (p.Asp608His) c.1144G>C (p.Asp382His) c.1729G>C (p.Asp577His) c.1598G>C (n.1598G>C) c.406G>C (p.Asp136His) c.979G>C (p.Asp327His) c.1657G>C (p.Asp553His) c.1780G>C (p.Asp594His) c.1054G>C (p.Asp352His) c.1660G>C (p.Asp554His) n.2423+2434C>G n.2019G>C | |
| 10 | g.18539635G= | CA1894174158 | CACNB2,NSUN6 | c.1750G= (p.Asp584=) c.1615G= (p.Asp539=) c.1738G= (p.Asp580=) c.1810G= (p.Asp604=) c.1894G= (p.Asp632=) c.1732G= (p.Asp578=) c.1519G= (p.Asp507=) c.1696G= (p.Asp566=) c.*1035G= (n.*1035G=) c.1636G= (p.Asp546=) c.*1168G= (n.*1168G=) c.1451G= (n.1451G=) c.*1133G= (n.*1133G=) c.1714G= (p.Asp572=) c.*994G= (n.*994G=) c.1822G= (p.Asp608=) c.1144G= (p.Asp382=) c.1729G= (p.Asp577=) c.1598G= (n.1598G=) c.406G= (p.Asp136=) c.979G= (p.Asp327=) c.1657G= (p.Asp553=) c.1780G= (p.Asp594=) c.1054G= (p.Asp352=) c.1660G= (p.Asp554=) n.2423+2434C= n.2019G= | |
| 10 | g.18539635G>T | CA376072769 | CACNB2,NSUN6 | c.1750G>T (p.Asp584Tyr) c.1615G>T (p.Asp539Tyr) c.1738G>T (p.Asp580Tyr) c.1810G>T (p.Asp604Tyr) c.1894G>T (p.Asp632Tyr) c.1732G>T (p.Asp578Tyr) c.1519G>T (p.Asp507Tyr) c.1696G>T (p.Asp566Tyr) c.*1035G>T (n.*1035G>T) c.1636G>T (p.Asp546Tyr) c.*1168G>T (n.*1168G>T) c.1451G>T (n.1451G>T) c.*1133G>T (n.*1133G>T) c.1714G>T (p.Asp572Tyr) c.*994G>T (n.*994G>T) c.1822G>T (p.Asp608Tyr) c.1144G>T (p.Asp382Tyr) c.1729G>T (p.Asp577Tyr) c.1598G>T (n.1598G>T) c.406G>T (p.Asp136Tyr) c.979G>T (p.Asp327Tyr) c.1657G>T (p.Asp553Tyr) c.1780G>T (p.Asp594Tyr) c.1054G>T (p.Asp352Tyr) c.1660G>T (p.Asp554Tyr) n.2423+2434C>A n.2019G>T | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.18539636A= | CA1894174162 | CACNB2,NSUN6 | c.1751A= (p.Asp584=) c.1616A= (p.Asp539=) c.1739A= (p.Asp580=) c.1811A= (p.Asp604=) c.1895A= (p.Asp632=) c.1733A= (p.Asp578=) c.1520A= (p.Asp507=) c.1697A= (p.Asp566=) c.*1036A= (n.*1036A=) c.1637A= (p.Asp546=) c.*1169A= (n.*1169A=) c.1452A= (n.1452A=) c.*1134A= (n.*1134A=) c.1715A= (p.Asp572=) c.*995A= (n.*995A=) c.1823A= (p.Asp608=) c.1145A= (p.Asp382=) c.1730A= (p.Asp577=) c.1599A= (n.1599A=) c.407A= (p.Asp136=) c.980A= (p.Asp327=) c.1658A= (p.Asp553=) c.1781A= (p.Asp594=) c.1055A= (p.Asp352=) c.1661A= (p.Asp554=) n.2423+2433T= n.2020A= | |
| 10 | g.18539636A>C | CA5430198 | CACNB2,NSUN6 | c.1751A>C (p.Asp584Ala) c.1616A>C (p.Asp539Ala) c.1739A>C (p.Asp580Ala) c.1811A>C (p.Asp604Ala) c.1895A>C (p.Asp632Ala) c.1733A>C (p.Asp578Ala) c.1520A>C (p.Asp507Ala) c.1697A>C (p.Asp566Ala) c.*1036A>C (n.*1036A>C) c.1637A>C (p.Asp546Ala) c.*1169A>C (n.*1169A>C) c.1452A>C (n.1452A>C) c.*1134A>C (n.*1134A>C) c.1715A>C (p.Asp572Ala) c.*995A>C (n.*995A>C) c.1823A>C (p.Asp608Ala) c.1145A>C (p.Asp382Ala) c.1730A>C (p.Asp577Ala) c.1599A>C (n.1599A>C) c.407A>C (p.Asp136Ala) c.980A>C (p.Asp327Ala) c.1658A>C (p.Asp553Ala) c.1781A>C (p.Asp594Ala) c.1055A>C (p.Asp352Ala) c.1661A>C (p.Asp554Ala) n.2423+2433T>G n.2020A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.18539636A>G | CA376072771 | CACNB2,NSUN6 | c.1751A>G (p.Asp584Gly) c.1616A>G (p.Asp539Gly) c.1739A>G (p.Asp580Gly) c.1811A>G (p.Asp604Gly) c.1895A>G (p.Asp632Gly) c.1733A>G (p.Asp578Gly) c.1520A>G (p.Asp507Gly) c.1697A>G (p.Asp566Gly) c.*1036A>G (n.*1036A>G) c.1637A>G (p.Asp546Gly) c.*1169A>G (n.*1169A>G) c.1452A>G (n.1452A>G) c.*1134A>G (n.*1134A>G) c.1715A>G (p.Asp572Gly) c.*995A>G (n.*995A>G) c.1823A>G (p.Asp608Gly) c.1145A>G (p.Asp382Gly) c.1730A>G (p.Asp577Gly) c.1599A>G (n.1599A>G) c.407A>G (p.Asp136Gly) c.980A>G (p.Asp327Gly) c.1658A>G (p.Asp553Gly) c.1781A>G (p.Asp594Gly) c.1055A>G (p.Asp352Gly) c.1661A>G (p.Asp554Gly) n.2423+2433T>C n.2020A>G | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.18539636A>T | CA203167462 | CACNB2,NSUN6 | c.1751A>T (p.Asp584Val) c.1616A>T (p.Asp539Val) c.1739A>T (p.Asp580Val) c.1811A>T (p.Asp604Val) c.1895A>T (p.Asp632Val) c.1733A>T (p.Asp578Val) c.1520A>T (p.Asp507Val) c.1697A>T (p.Asp566Val) c.*1036A>T (n.*1036A>T) c.1637A>T (p.Asp546Val) c.*1169A>T (n.*1169A>T) c.1452A>T (n.1452A>T) c.*1134A>T (n.*1134A>T) c.1715A>T (p.Asp572Val) c.*995A>T (n.*995A>T) c.1823A>T (p.Asp608Val) c.1145A>T (p.Asp382Val) c.1730A>T (p.Asp577Val) c.1599A>T (n.1599A>T) c.407A>T (p.Asp136Val) c.980A>T (p.Asp327Val) c.1658A>T (p.Asp553Val) c.1781A>T (p.Asp594Val) c.1055A>T (p.Asp352Val) c.1661A>T (p.Asp554Val) n.2423+2433T>A n.2020A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.18539637T>A | CA376072772 | CACNB2,NSUN6 | c.1752T>A (p.Asp584Glu) c.1617T>A (p.Asp539Glu) c.1740T>A (p.Asp580Glu) c.1812T>A (p.Asp604Glu) c.1896T>A (p.Asp632Glu) c.1734T>A (p.Asp578Glu) c.1521T>A (p.Asp507Glu) c.1698T>A (p.Asp566Glu) c.*1037T>A (n.*1037T>A) c.1638T>A (p.Asp546Glu) c.*1170T>A (n.*1170T>A) c.1453T>A (n.1453T>A) c.*1135T>A (n.*1135T>A) c.1716T>A (p.Asp572Glu) c.*996T>A (n.*996T>A) c.1824T>A (p.Asp608Glu) c.1146T>A (p.Asp382Glu) c.1731T>A (p.Asp577Glu) c.1600T>A (n.1600T>A) c.408T>A (p.Asp136Glu) c.981T>A (p.Asp327Glu) c.1659T>A (p.Asp553Glu) c.1782T>A (p.Asp594Glu) c.1056T>A (p.Asp352Glu) c.1662T>A (p.Asp554Glu) n.2423+2432A>T n.2021T>A | |
| 10 | g.18539637T>C | CA468649725 | CACNB2,NSUN6 | c.1752T>C (p.Asp584=) c.1617T>C (p.Asp539=) c.1740T>C (p.Asp580=) c.1812T>C (p.Asp604=) c.1896T>C (p.Asp632=) c.1734T>C (p.Asp578=) c.1521T>C (p.Asp507=) c.1698T>C (p.Asp566=) c.*1037T>C (n.*1037T>C) c.1638T>C (p.Asp546=) c.*1170T>C (n.*1170T>C) c.1453T>C (n.1453T>C) c.*1135T>C (n.*1135T>C) c.1716T>C (p.Asp572=) c.*996T>C (n.*996T>C) c.1824T>C (p.Asp608=) c.1146T>C (p.Asp382=) c.1731T>C (p.Asp577=) c.1600T>C (n.1600T>C) c.408T>C (p.Asp136=) c.981T>C (p.Asp327=) c.1659T>C (p.Asp553=) c.1782T>C (p.Asp594=) c.1056T>C (p.Asp352=) c.1662T>C (p.Asp554=) n.2423+2432A>G n.2021T>C | |
| 10 | g.18539637T>G | CA376072773 | CACNB2,NSUN6 | c.1752T>G (p.Asp584Glu) c.1617T>G (p.Asp539Glu) c.1740T>G (p.Asp580Glu) c.1812T>G (p.Asp604Glu) c.1896T>G (p.Asp632Glu) c.1734T>G (p.Asp578Glu) c.1521T>G (p.Asp507Glu) c.1698T>G (p.Asp566Glu) c.*1037T>G (n.*1037T>G) c.1638T>G (p.Asp546Glu) c.*1170T>G (n.*1170T>G) c.1453T>G (n.1453T>G) c.*1135T>G (n.*1135T>G) c.1716T>G (p.Asp572Glu) c.*996T>G (n.*996T>G) c.1824T>G (p.Asp608Glu) c.1146T>G (p.Asp382Glu) c.1731T>G (p.Asp577Glu) c.1600T>G (n.1600T>G) c.408T>G (p.Asp136Glu) c.981T>G (p.Asp327Glu) c.1659T>G (p.Asp553Glu) c.1782T>G (p.Asp594Glu) c.1056T>G (p.Asp352Glu) c.1662T>G (p.Asp554Glu) n.2423+2432A>C n.2021T>G | |
| 10 | g.18539638del | CA2528516686 | CACNB2,NSUN6 | c.1753del (p.Arg585AlafsTer9) c.1618del (p.Arg540AlafsTer9) c.1741del (p.Arg581AlafsTer9) c.1813del (p.Arg605AlafsTer9) c.1897del (p.Arg633AlafsTer9) c.1735del (p.Arg579AlafsTer9) c.1522del (p.Arg508AlafsTer9) c.1699del (p.Arg567AlafsTer9) c.*1038del (n.*1038del) c.1639del (p.Arg547AlafsTer9) c.*1171del (n.*1171del) c.1454del (n.1454del) c.*1136del (n.*1136del) c.1717del (p.Arg573AlafsTer9) c.*997del (n.*997del) c.1825del (p.Arg609AlafsTer9) c.1147del (p.Arg383AlafsTer9) c.1732del (p.Arg578AlafsTer9) c.1601del (n.1601del) c.409del (p.Arg137AlafsTer9) c.982del (p.Arg328AlafsTer9) c.1660del (p.Arg554AlafsTer9) c.1783del (p.Arg595AlafsTer9) c.1057del (p.Arg353AlafsTer9) c.1663del (p.Arg555AlafsTer9) n.2423+2431del n.2022del | |
| 10 | g.18539638C>A | CA5430200 | CACNB2,NSUN6 | c.1753C>A (p.Arg585Ser) c.1618C>A (p.Arg540Ser) c.1741C>A (p.Arg581Ser) c.1813C>A (p.Arg605Ser) c.1897C>A (p.Arg633Ser) c.1735C>A (p.Arg579Ser) c.1522C>A (p.Arg508Ser) c.1699C>A (p.Arg567Ser) c.*1038C>A (n.*1038C>A) c.1639C>A (p.Arg547Ser) c.*1171C>A (n.*1171C>A) c.1454C>A (n.1454C>A) c.*1136C>A (n.*1136C>A) c.1717C>A (p.Arg573Ser) c.*997C>A (n.*997C>A) c.1825C>A (p.Arg609Ser) c.1147C>A (p.Arg383Ser) c.1732C>A (p.Arg578Ser) c.1601C>A (n.1601C>A) c.409C>A (p.Arg137Ser) c.982C>A (p.Arg328Ser) c.1660C>A (p.Arg554Ser) c.1783C>A (p.Arg595Ser) c.1057C>A (p.Arg353Ser) c.1663C>A (p.Arg555Ser) n.2423+2431G>T n.2022C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.18539638C= | CA1894174166 | CACNB2,NSUN6 | c.1753C= (p.Arg585=) c.1618C= (p.Arg540=) c.1741C= (p.Arg581=) c.1813C= (p.Arg605=) c.1897C= (p.Arg633=) c.1735C= (p.Arg579=) c.1522C= (p.Arg508=) c.1699C= (p.Arg567=) c.*1038C= (n.*1038C=) c.1639C= (p.Arg547=) c.*1171C= (n.*1171C=) c.1454C= (n.1454C=) c.*1136C= (n.*1136C=) c.1717C= (p.Arg573=) c.*997C= (n.*997C=) c.1825C= (p.Arg609=) c.1147C= (p.Arg383=) c.1732C= (p.Arg578=) c.1601C= (n.1601C=) c.409C= (p.Arg137=) c.982C= (p.Arg328=) c.1660C= (p.Arg554=) c.1783C= (p.Arg595=) c.1057C= (p.Arg353=) c.1663C= (p.Arg555=) n.2423+2431G= n.2022C= | |
| 10 | g.18539638C>G | CA376072774 | CACNB2,NSUN6 | c.1753C>G (p.Arg585Gly) c.1618C>G (p.Arg540Gly) c.1741C>G (p.Arg581Gly) c.1813C>G (p.Arg605Gly) c.1897C>G (p.Arg633Gly) c.1735C>G (p.Arg579Gly) c.1522C>G (p.Arg508Gly) c.1699C>G (p.Arg567Gly) c.*1038C>G (n.*1038C>G) c.1639C>G (p.Arg547Gly) c.*1171C>G (n.*1171C>G) c.1454C>G (n.1454C>G) c.*1136C>G (n.*1136C>G) c.1717C>G (p.Arg573Gly) c.*997C>G (n.*997C>G) c.1825C>G (p.Arg609Gly) c.1147C>G (p.Arg383Gly) c.1732C>G (p.Arg578Gly) c.1601C>G (n.1601C>G) c.409C>G (p.Arg137Gly) c.982C>G (p.Arg328Gly) c.1660C>G (p.Arg554Gly) c.1783C>G (p.Arg595Gly) c.1057C>G (p.Arg353Gly) c.1663C>G (p.Arg555Gly) n.2423+2431G>C n.2022C>G | |
| 10 | g.18539638C>T | CA5430199 | CACNB2,NSUN6 | c.1753C>T (p.Arg585Cys) c.1618C>T (p.Arg540Cys) c.1741C>T (p.Arg581Cys) c.1813C>T (p.Arg605Cys) c.1897C>T (p.Arg633Cys) c.1735C>T (p.Arg579Cys) c.1522C>T (p.Arg508Cys) c.1699C>T (p.Arg567Cys) c.*1038C>T (n.*1038C>T) c.1639C>T (p.Arg547Cys) c.*1171C>T (n.*1171C>T) c.1454C>T (n.1454C>T) c.*1136C>T (n.*1136C>T) c.1717C>T (p.Arg573Cys) c.*997C>T (n.*997C>T) c.1825C>T (p.Arg609Cys) c.1147C>T (p.Arg383Cys) c.1732C>T (p.Arg578Cys) c.1601C>T (n.1601C>T) c.409C>T (p.Arg137Cys) c.982C>T (p.Arg328Cys) c.1660C>T (p.Arg554Cys) c.1783C>T (p.Arg595Cys) c.1057C>T (p.Arg353Cys) c.1663C>T (p.Arg555Cys) n.2423+2431G>A n.2022C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.18539639G>A | CA5430201 | CACNB2,NSUN6 | c.1754G>A (p.Arg585His) c.1619G>A (p.Arg540His) c.1742G>A (p.Arg581His) c.1814G>A (p.Arg605His) c.1898G>A (p.Arg633His) c.1736G>A (p.Arg579His) c.1523G>A (p.Arg508His) c.1700G>A (p.Arg567His) c.*1039G>A (n.*1039G>A) c.1640G>A (p.Arg547His) c.*1172G>A (n.*1172G>A) c.1455G>A (n.1455G>A) c.*1137G>A (n.*1137G>A) c.1718G>A (p.Arg573His) c.*998G>A (n.*998G>A) c.1826G>A (p.Arg609His) c.1148G>A (p.Arg383His) c.1733G>A (p.Arg578His) c.1602G>A (n.1602G>A) c.410G>A (p.Arg137His) c.983G>A (p.Arg328His) c.1661G>A (p.Arg554His) c.1784G>A (p.Arg595His) c.1058G>A (p.Arg353His) c.1664G>A (p.Arg555His) n.2423+2430C>T n.2023G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.18539639G>C | CA203167471 | CACNB2,NSUN6 | c.1754G>C (p.Arg585Pro) c.1619G>C (p.Arg540Pro) c.1742G>C (p.Arg581Pro) c.1814G>C (p.Arg605Pro) c.1898G>C (p.Arg633Pro) c.1736G>C (p.Arg579Pro) c.1523G>C (p.Arg508Pro) c.1700G>C (p.Arg567Pro) c.*1039G>C (n.*1039G>C) c.1640G>C (p.Arg547Pro) c.*1172G>C (n.*1172G>C) c.1455G>C (n.1455G>C) c.*1137G>C (n.*1137G>C) c.1718G>C (p.Arg573Pro) c.*998G>C (n.*998G>C) c.1826G>C (p.Arg609Pro) c.1148G>C (p.Arg383Pro) c.1733G>C (p.Arg578Pro) c.1602G>C (n.1602G>C) c.410G>C (p.Arg137Pro) c.983G>C (p.Arg328Pro) c.1661G>C (p.Arg554Pro) c.1784G>C (p.Arg595Pro) c.1058G>C (p.Arg353Pro) c.1664G>C (p.Arg555Pro) n.2423+2430C>G n.2023G>C | dbSNP |
| 10 | g.18539639G= | CA1894174171 | CACNB2,NSUN6 | c.1754G= (p.Arg585=) c.1619G= (p.Arg540=) c.1742G= (p.Arg581=) c.1814G= (p.Arg605=) c.1898G= (p.Arg633=) c.1736G= (p.Arg579=) c.1523G= (p.Arg508=) c.1700G= (p.Arg567=) c.*1039G= (n.*1039G=) c.1640G= (p.Arg547=) c.*1172G= (n.*1172G=) c.1455G= (n.1455G=) c.*1137G= (n.*1137G=) c.1718G= (p.Arg573=) c.*998G= (n.*998G=) c.1826G= (p.Arg609=) c.1148G= (p.Arg383=) c.1733G= (p.Arg578=) c.1602G= (n.1602G=) c.410G= (p.Arg137=) c.983G= (p.Arg328=) c.1661G= (p.Arg554=) c.1784G= (p.Arg595=) c.1058G= (p.Arg353=) c.1664G= (p.Arg555=) n.2423+2430C= n.2023G= | |
| 10 | g.18539639G>T | CA376072775 | CACNB2,NSUN6 | c.1754G>T (p.Arg585Leu) c.1619G>T (p.Arg540Leu) c.1742G>T (p.Arg581Leu) c.1814G>T (p.Arg605Leu) c.1898G>T (p.Arg633Leu) c.1736G>T (p.Arg579Leu) c.1523G>T (p.Arg508Leu) c.1700G>T (p.Arg567Leu) c.*1039G>T (n.*1039G>T) c.1640G>T (p.Arg547Leu) c.*1172G>T (n.*1172G>T) c.1455G>T (n.1455G>T) c.*1137G>T (n.*1137G>T) c.1718G>T (p.Arg573Leu) c.*998G>T (n.*998G>T) c.1826G>T (p.Arg609Leu) c.1148G>T (p.Arg383Leu) c.1733G>T (p.Arg578Leu) c.1602G>T (n.1602G>T) c.410G>T (p.Arg137Leu) c.983G>T (p.Arg328Leu) c.1661G>T (p.Arg554Leu) c.1784G>T (p.Arg595Leu) c.1058G>T (p.Arg353Leu) c.1664G>T (p.Arg555Leu) n.2423+2430C>A n.2023G>T | |
| 10 | g.18539640C>A | CA468649731 | CACNB2,NSUN6 | c.1755C>A (p.Arg585=) c.1620C>A (p.Arg540=) c.1743C>A (p.Arg581=) c.1815C>A (p.Arg605=) c.1899C>A (p.Arg633=) c.1737C>A (p.Arg579=) c.1524C>A (p.Arg508=) c.1701C>A (p.Arg567=) c.*1040C>A (n.*1040C>A) c.1641C>A (p.Arg547=) c.*1173C>A (n.*1173C>A) c.1456C>A (n.1456C>A) c.*1138C>A (n.*1138C>A) c.1719C>A (p.Arg573=) c.*999C>A (n.*999C>A) c.1827C>A (p.Arg609=) c.1149C>A (p.Arg383=) c.1734C>A (p.Arg578=) c.1603C>A (n.1603C>A) c.411C>A (p.Arg137=) c.984C>A (p.Arg328=) c.1662C>A (p.Arg554=) c.1785C>A (p.Arg595=) c.1059C>A (p.Arg353=) c.1665C>A (p.Arg555=) n.2423+2429G>T n.2024C>A | ClinVar dbSNP |
| 10 | g.18539640C= | CA1894174179 | CACNB2,NSUN6 | c.1755C= (p.Arg585=) c.1620C= (p.Arg540=) c.1743C= (p.Arg581=) c.1815C= (p.Arg605=) c.1899C= (p.Arg633=) c.1737C= (p.Arg579=) c.1524C= (p.Arg508=) c.1701C= (p.Arg567=) c.*1040C= (n.*1040C=) c.1641C= (p.Arg547=) c.*1173C= (n.*1173C=) c.1456C= (n.1456C=) c.*1138C= (n.*1138C=) c.1719C= (p.Arg573=) c.*999C= (n.*999C=) c.1827C= (p.Arg609=) c.1149C= (p.Arg383=) c.1734C= (p.Arg578=) c.1603C= (n.1603C=) c.411C= (p.Arg137=) c.984C= (p.Arg328=) c.1662C= (p.Arg554=) c.1785C= (p.Arg595=) c.1059C= (p.Arg353=) c.1665C= (p.Arg555=) n.2423+2429G= n.2024C= | |
| 10 | g.18539640C>G | CA468649730 | CACNB2,NSUN6 | c.1755C>G (p.Arg585=) c.1620C>G (p.Arg540=) c.1743C>G (p.Arg581=) c.1815C>G (p.Arg605=) c.1899C>G (p.Arg633=) c.1737C>G (p.Arg579=) c.1524C>G (p.Arg508=) c.1701C>G (p.Arg567=) c.*1040C>G (n.*1040C>G) c.1641C>G (p.Arg547=) c.*1173C>G (n.*1173C>G) c.1456C>G (n.1456C>G) c.*1138C>G (n.*1138C>G) c.1719C>G (p.Arg573=) c.*999C>G (n.*999C>G) c.1827C>G (p.Arg609=) c.1149C>G (p.Arg383=) c.1734C>G (p.Arg578=) c.1603C>G (n.1603C>G) c.411C>G (p.Arg137=) c.984C>G (p.Arg328=) c.1662C>G (p.Arg554=) c.1785C>G (p.Arg595=) c.1059C>G (p.Arg353=) c.1665C>G (p.Arg555=) n.2423+2429G>C n.2024C>G | |
| 10 | g.18539640C>T | CA468649729 | CACNB2,NSUN6 | c.1755C>T (p.Arg585=) c.1620C>T (p.Arg540=) c.1743C>T (p.Arg581=) c.1815C>T (p.Arg605=) c.1899C>T (p.Arg633=) c.1737C>T (p.Arg579=) c.1524C>T (p.Arg508=) c.1701C>T (p.Arg567=) c.*1040C>T (n.*1040C>T) c.1641C>T (p.Arg547=) c.*1173C>T (n.*1173C>T) c.1456C>T (n.1456C>T) c.*1138C>T (n.*1138C>T) c.1719C>T (p.Arg573=) c.*999C>T (n.*999C>T) c.1827C>T (p.Arg609=) c.1149C>T (p.Arg383=) c.1734C>T (p.Arg578=) c.1603C>T (n.1603C>T) c.411C>T (p.Arg137=) c.984C>T (p.Arg328=) c.1662C>T (p.Arg554=) c.1785C>T (p.Arg595=) c.1059C>T (p.Arg353=) c.1665C>T (p.Arg555=) n.2423+2429G>A n.2024C>T | gnomAD v4 |
| 10 | g.18539641T>A | CA376072778 | CACNB2,NSUN6 | c.1756T>A (p.Tyr586Asn) c.1621T>A (p.Tyr541Asn) c.1744T>A (p.Tyr582Asn) c.1816T>A (p.Tyr606Asn) c.1900T>A (p.Tyr634Asn) c.1738T>A (p.Tyr580Asn) c.1525T>A (p.Tyr509Asn) c.1702T>A (p.Tyr568Asn) c.*1041T>A (n.*1041T>A) c.1642T>A (p.Tyr548Asn) c.*1174T>A (n.*1174T>A) c.1457T>A (n.1457T>A) c.*1139T>A (n.*1139T>A) c.1720T>A (p.Tyr574Asn) c.*1000T>A (n.*1000T>A) c.1828T>A (p.Tyr610Asn) c.1150T>A (p.Tyr384Asn) c.1735T>A (p.Tyr579Asn) c.1604T>A (n.1604T>A) c.412T>A (p.Tyr138Asn) c.985T>A (p.Tyr329Asn) c.1663T>A (p.Tyr555Asn) c.1786T>A (p.Tyr596Asn) c.1060T>A (p.Tyr354Asn) c.1666T>A (p.Tyr556Asn) n.2423+2428A>T n.2025T>A | |
| 10 | g.18539641T>C | CA376072777 | CACNB2,NSUN6 | c.1756T>C (p.Tyr586His) c.1621T>C (p.Tyr541His) c.1744T>C (p.Tyr582His) c.1816T>C (p.Tyr606His) c.1900T>C (p.Tyr634His) c.1738T>C (p.Tyr580His) c.1525T>C (p.Tyr509His) c.1702T>C (p.Tyr568His) c.*1041T>C (n.*1041T>C) c.1642T>C (p.Tyr548His) c.*1174T>C (n.*1174T>C) c.1457T>C (n.1457T>C) c.*1139T>C (n.*1139T>C) c.1720T>C (p.Tyr574His) c.*1000T>C (n.*1000T>C) c.1828T>C (p.Tyr610His) c.1150T>C (p.Tyr384His) c.1735T>C (p.Tyr579His) c.1604T>C (n.1604T>C) c.412T>C (p.Tyr138His) c.985T>C (p.Tyr329His) c.1663T>C (p.Tyr555His) c.1786T>C (p.Tyr596His) c.1060T>C (p.Tyr354His) c.1666T>C (p.Tyr556His) n.2423+2428A>G n.2025T>C | gnomAD v4 |
| 10 | g.18539641T>G | CA376072776 | CACNB2,NSUN6 | c.1756T>G (p.Tyr586Asp) c.1621T>G (p.Tyr541Asp) c.1744T>G (p.Tyr582Asp) c.1816T>G (p.Tyr606Asp) c.1900T>G (p.Tyr634Asp) c.1738T>G (p.Tyr580Asp) c.1525T>G (p.Tyr509Asp) c.1702T>G (p.Tyr568Asp) c.*1041T>G (n.*1041T>G) c.1642T>G (p.Tyr548Asp) c.*1174T>G (n.*1174T>G) c.1457T>G (n.1457T>G) c.*1139T>G (n.*1139T>G) c.1720T>G (p.Tyr574Asp) c.*1000T>G (n.*1000T>G) c.1828T>G (p.Tyr610Asp) c.1150T>G (p.Tyr384Asp) c.1735T>G (p.Tyr579Asp) c.1604T>G (n.1604T>G) c.412T>G (p.Tyr138Asp) c.985T>G (p.Tyr329Asp) c.1663T>G (p.Tyr555Asp) c.1786T>G (p.Tyr596Asp) c.1060T>G (p.Tyr354Asp) c.1666T>G (p.Tyr556Asp) n.2423+2428A>C n.2025T>G | |
| 10 | g.18539641_18539659dup | CA918615637 | CACNB2,NSUN6 | c.1756_1774dup (p.Glu592ValfsTer3) c.1621_1639dup (p.Glu547ValfsTer3) c.1744_1762dup (p.Glu588ValfsTer3) c.1816_1834dup (p.Glu612ValfsTer3) c.1900_1918dup (p.Glu640ValfsTer3) c.1738_1756dup (p.Glu586ValfsTer3) c.1525_1543dup (p.Glu515ValfsTer3) c.1702_1720dup (p.Glu574ValfsTer3) c.*1041_*1059dup (n.*1041_*1059dup) c.1642_1660dup (p.Glu554ValfsTer3) c.*1174_*1192dup (n.*1174_*1192dup) c.1457_1475dup (n.1457_1475dup) c.*1139_*1157dup (n.*1139_*1157dup) c.1720_1738dup (p.Glu580ValfsTer3) c.*1000_*1018dup (n.*1000_*1018dup) c.1828_1846dup (p.Glu616ValfsTer3) c.1150_1168dup (p.Glu390ValfsTer3) c.1735_1753dup (p.Glu585ValfsTer3) c.1604_1622dup (n.1604_1622dup) c.412_430dup (p.Glu144ValfsTer3) c.985_1003dup (p.Glu335ValfsTer3) c.1663_1681dup (p.Glu561ValfsTer3) c.1786_1804dup (p.Glu602ValfsTer3) c.1060_1078dup (p.Glu360ValfsTer3) c.1666_1684dup (p.Glu562ValfsTer3) n.2423+2410_2423+2428dup n.2025_2043dup | dbSNP gnomAD v4 |
| 10 | g.18539642A>C | CA376072779 | CACNB2,NSUN6 | c.1757A>C (p.Tyr586Ser) c.1622A>C (p.Tyr541Ser) c.1745A>C (p.Tyr582Ser) c.1817A>C (p.Tyr606Ser) c.1901A>C (p.Tyr634Ser) c.1739A>C (p.Tyr580Ser) c.1526A>C (p.Tyr509Ser) c.1703A>C (p.Tyr568Ser) c.*1042A>C (n.*1042A>C) c.1643A>C (p.Tyr548Ser) c.*1175A>C (n.*1175A>C) c.1458A>C (n.1458A>C) c.*1140A>C (n.*1140A>C) c.1721A>C (p.Tyr574Ser) c.*1001A>C (n.*1001A>C) c.1829A>C (p.Tyr610Ser) c.1151A>C (p.Tyr384Ser) c.1736A>C (p.Tyr579Ser) c.1605A>C (n.1605A>C) c.413A>C (p.Tyr138Ser) c.986A>C (p.Tyr329Ser) c.1664A>C (p.Tyr555Ser) c.1787A>C (p.Tyr596Ser) c.1061A>C (p.Tyr354Ser) c.1667A>C (p.Tyr556Ser) n.2423+2427T>G n.2026A>C | |
| 10 | g.18539642A>G | CA376072780 | CACNB2,NSUN6 | c.1757A>G (p.Tyr586Cys) c.1622A>G (p.Tyr541Cys) c.1745A>G (p.Tyr582Cys) c.1817A>G (p.Tyr606Cys) c.1901A>G (p.Tyr634Cys) c.1739A>G (p.Tyr580Cys) c.1526A>G (p.Tyr509Cys) c.1703A>G (p.Tyr568Cys) c.*1042A>G (n.*1042A>G) c.1643A>G (p.Tyr548Cys) c.*1175A>G (n.*1175A>G) c.1458A>G (n.1458A>G) c.*1140A>G (n.*1140A>G) c.1721A>G (p.Tyr574Cys) c.*1001A>G (n.*1001A>G) c.1829A>G (p.Tyr610Cys) c.1151A>G (p.Tyr384Cys) c.1736A>G (p.Tyr579Cys) c.1605A>G (n.1605A>G) c.413A>G (p.Tyr138Cys) c.986A>G (p.Tyr329Cys) c.1664A>G (p.Tyr555Cys) c.1787A>G (p.Tyr596Cys) c.1061A>G (p.Tyr354Cys) c.1667A>G (p.Tyr556Cys) n.2423+2427T>C n.2026A>G | |
| 10 | g.18539642A>T | CA376072781 | CACNB2,NSUN6 | c.1757A>T (p.Tyr586Phe) c.1622A>T (p.Tyr541Phe) c.1745A>T (p.Tyr582Phe) c.1817A>T (p.Tyr606Phe) c.1901A>T (p.Tyr634Phe) c.1739A>T (p.Tyr580Phe) c.1526A>T (p.Tyr509Phe) c.1703A>T (p.Tyr568Phe) c.*1042A>T (n.*1042A>T) c.1643A>T (p.Tyr548Phe) c.*1175A>T (n.*1175A>T) c.1458A>T (n.1458A>T) c.*1140A>T (n.*1140A>T) c.1721A>T (p.Tyr574Phe) c.*1001A>T (n.*1001A>T) c.1829A>T (p.Tyr610Phe) c.1151A>T (p.Tyr384Phe) c.1736A>T (p.Tyr579Phe) c.1605A>T (n.1605A>T) c.413A>T (p.Tyr138Phe) c.986A>T (p.Tyr329Phe) c.1664A>T (p.Tyr555Phe) c.1787A>T (p.Tyr596Phe) c.1061A>T (p.Tyr354Phe) c.1667A>T (p.Tyr556Phe) n.2423+2427T>A n.2026A>T | |
| 10 | g.18539643C>A | CA376072782 | CACNB2,NSUN6 | c.1758C>A (p.Tyr586Ter) c.1623C>A (p.Tyr541Ter) c.1746C>A (p.Tyr582Ter) c.1818C>A (p.Tyr606Ter) c.1902C>A (p.Tyr634Ter) c.1740C>A (p.Tyr580Ter) c.1527C>A (p.Tyr509Ter) c.1704C>A (p.Tyr568Ter) c.*1043C>A (n.*1043C>A) c.1644C>A (p.Tyr548Ter) c.*1176C>A (n.*1176C>A) c.1459C>A (n.1459C>A) c.*1141C>A (n.*1141C>A) c.1722C>A (p.Tyr574Ter) c.*1002C>A (n.*1002C>A) c.1830C>A (p.Tyr610Ter) c.1152C>A (p.Tyr384Ter) c.1737C>A (p.Tyr579Ter) c.1606C>A (n.1606C>A) c.414C>A (p.Tyr138Ter) c.987C>A (p.Tyr329Ter) c.1665C>A (p.Tyr555Ter) c.1788C>A (p.Tyr596Ter) c.1062C>A (p.Tyr354Ter) c.1668C>A (p.Tyr556Ter) n.2423+2426G>T n.2027C>A | COSMIC COSMIC COSMIC |
| 10 | g.18539643C= | CA1894174185 | CACNB2,NSUN6 | c.1758C= (p.Tyr586=) c.1623C= (p.Tyr541=) c.1746C= (p.Tyr582=) c.1818C= (p.Tyr606=) c.1902C= (p.Tyr634=) c.1740C= (p.Tyr580=) c.1527C= (p.Tyr509=) c.1704C= (p.Tyr568=) c.*1043C= (n.*1043C=) c.1644C= (p.Tyr548=) c.*1176C= (n.*1176C=) c.1459C= (n.1459C=) c.*1141C= (n.*1141C=) c.1722C= (p.Tyr574=) c.*1002C= (n.*1002C=) c.1830C= (p.Tyr610=) c.1152C= (p.Tyr384=) c.1737C= (p.Tyr579=) c.1606C= (n.1606C=) c.414C= (p.Tyr138=) c.987C= (p.Tyr329=) c.1665C= (p.Tyr555=) c.1788C= (p.Tyr596=) c.1062C= (p.Tyr354=) c.1668C= (p.Tyr556=) n.2423+2426G= n.2027C= | |
| 10 | g.18539643C>G | CA376072783 | CACNB2,NSUN6 | c.1758C>G (p.Tyr586Ter) c.1623C>G (p.Tyr541Ter) c.1746C>G (p.Tyr582Ter) c.1818C>G (p.Tyr606Ter) c.1902C>G (p.Tyr634Ter) c.1740C>G (p.Tyr580Ter) c.1527C>G (p.Tyr509Ter) c.1704C>G (p.Tyr568Ter) c.*1043C>G (n.*1043C>G) c.1644C>G (p.Tyr548Ter) c.*1176C>G (n.*1176C>G) c.1459C>G (n.1459C>G) c.*1141C>G (n.*1141C>G) c.1722C>G (p.Tyr574Ter) c.*1002C>G (n.*1002C>G) c.1830C>G (p.Tyr610Ter) c.1152C>G (p.Tyr384Ter) c.1737C>G (p.Tyr579Ter) c.1606C>G (n.1606C>G) c.414C>G (p.Tyr138Ter) c.987C>G (p.Tyr329Ter) c.1665C>G (p.Tyr555Ter) c.1788C>G (p.Tyr596Ter) c.1062C>G (p.Tyr354Ter) c.1668C>G (p.Tyr556Ter) n.2423+2426G>C n.2027C>G | gnomAD v4 |
| 10 | g.18539643C>T | CA5430202 | CACNB2,NSUN6 | c.1758C>T (p.Tyr586=) c.1623C>T (p.Tyr541=) c.1746C>T (p.Tyr582=) c.1818C>T (p.Tyr606=) c.1902C>T (p.Tyr634=) c.1740C>T (p.Tyr580=) c.1527C>T (p.Tyr509=) c.1704C>T (p.Tyr568=) c.*1043C>T (n.*1043C>T) c.1644C>T (p.Tyr548=) c.*1176C>T (n.*1176C>T) c.1459C>T (n.1459C>T) c.*1141C>T (n.*1141C>T) c.1722C>T (p.Tyr574=) c.*1002C>T (n.*1002C>T) c.1830C>T (p.Tyr610=) c.1152C>T (p.Tyr384=) c.1737C>T (p.Tyr579=) c.1606C>T (n.1606C>T) c.414C>T (p.Tyr138=) c.987C>T (p.Tyr329=) c.1665C>T (p.Tyr555=) c.1788C>T (p.Tyr596=) c.1062C>T (p.Tyr354=) c.1668C>T (p.Tyr556=) n.2423+2426G>A n.2027C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |