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.18539481_18539579del | CA592060486 | CACNB2,NSUN6 | c.1596_1694del (p.His533_Asp565del) c.1461_1559del (p.His488_Asp520del) c.1584_1682del (p.His529_Asp561del) c.1656_1754del (p.His553_Asp585del) c.1740_1838del (p.His581_Asp613del) c.1578_1676del (p.His527_Asp559del) c.1365_1463del (p.His456_Asp488del) c.1542_1640del (p.His515_Asp547del) c.*881_*979del (n.*881_*979del) c.1482_1580del (p.His495_Asp527del) c.*1014_*1112del (n.*1014_*1112del) c.1297_1395del (n.1297_1395del) c.*979_*1077del (n.*979_*1077del) c.1560_1658del (p.His521_Asp553del) c.*840_*938del (n.*840_*938del) c.1668_1766del (p.His557_Asp589del) c.990_1088del (p.His331_Asp363del) c.1575_1673del (p.His526_Asp558del) c.1444_1542del (n.1444_1542del) c.252_350del (p.His85_Asp117del) c.825_923del (p.His276_Asp308del) c.1503_1601del (p.His502_Asp534del) c.1626_1724del (p.His543_Asp575del) c.900_998del (p.His301_Asp333del) c.1506_1604del (p.His503_Asp535del) n.2423+2497_2423+2595del n.1865_1963del | gnomAD v2 |
| 10 | g.18539497_18539533delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA | CA1894173640 | CACNB2,NSUN6 | c.1612_1648delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg538=) c.1477_1513delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg493=) c.1600_1636delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg534=) c.1672_1708delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg558=) c.1756_1792delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg586=) c.1594_1630delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg532=) c.1381_1417delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg461=) c.1558_1594delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg520=) c.*897_*933delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (n.*897_*933delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA) c.1498_1534delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg500=) c.*1030_*1066delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (n.*1030_*1066delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA) c.1313_1349delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (n.1313_1349delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA) c.*995_*1031delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (n.*995_*1031delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA) c.1576_1612delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg526=) c.*856_*892delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (n.*856_*892delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA) c.1684_1720delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg562=) c.1006_1042delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg336=) c.1591_1627delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg531=) c.1460_1496delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (n.1460_1496delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA) c.268_304delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg90=) c.841_877delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg281=) c.1519_1555delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg507=) c.1642_1678delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg548=) c.916_952delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg306=) c.1522_1558delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg508=) n.2423+2536_2423+2572delinsTGCTCCCGTGGGTCTCGTCTCTGTGGTTGTGGTCACG n.1881_1917delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA | |
| 10 | g.18539507_18539542del | CA5430159 | CACNB2,NSUN6 | c.1622_1657del (p.Asn541_His552del) c.1487_1522del (p.Asn496_His507del) c.1610_1645del (p.Asn537_His548del) c.1682_1717del (p.Asn561_His572del) c.1766_1801del (p.Asn589_His600del) c.1604_1639del (p.Asn535_His546del) c.1391_1426del (p.Asn464_His475del) c.1568_1603del (p.Asn523_His534del) c.*907_*942del (n.*907_*942del) c.1508_1543del (p.Asn503_His514del) c.*1040_*1075del (n.*1040_*1075del) c.1323_1358del (n.1323_1358del) c.*1005_*1040del (n.*1005_*1040del) c.1586_1621del (p.Asn529_His540del) c.*866_*901del (n.*866_*901del) c.1694_1729del (p.Asn565_His576del) c.1016_1051del (p.Asn339_His350del) c.1601_1636del (p.Asn534_His545del) c.1470_1505del (n.1470_1505del) c.278_313del (p.Asn93_His104del) c.851_886del (p.Asn284_His295del) c.1529_1564del (p.Asn510_His521del) c.1652_1687del (p.Asn551_His562del) c.926_961del (p.Asn309_His320del) c.1532_1567del (p.Asn511_His522del) n.2423+2536_2423+2571del n.1891_1926del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.18539506_18539535del | CA2608435628 | CACNB2,NSUN6 | c.1621_1650del (p.Asn541_Ser550del) c.1486_1515del (p.Asn496_Ser505del) c.1609_1638del (p.Asn537_Ser546del) c.1681_1710del (p.Asn561_Ser570del) c.1765_1794del (p.Asn589_Ser598del) c.1603_1632del (p.Asn535_Ser544del) c.1390_1419del (p.Asn464_Ser473del) c.1567_1596del (p.Asn523_Ser532del) c.*906_*935del (n.*906_*935del) c.1507_1536del (p.Asn503_Ser512del) c.*1039_*1068del (n.*1039_*1068del) c.1322_1351del (n.1322_1351del) c.*1004_*1033del (n.*1004_*1033del) c.1585_1614del (p.Asn529_Ser538del) c.*865_*894del (n.*865_*894del) c.1693_1722del (p.Asn565_Ser574del) c.1015_1044del (p.Asn339_Ser348del) c.1600_1629del (p.Asn534_Ser543del) c.1469_1498del (n.1469_1498del) c.277_306del (p.Asn93_Ser102del) c.850_879del (p.Asn284_Ser293del) c.1528_1557del (p.Asn510_Ser519del) c.1651_1680del (p.Asn551_Ser560del) c.925_954del (p.Asn309_Ser318del) c.1531_1560del (p.Asn511_Ser520del) n.2423+2534_2423+2563del n.1890_1919del | gnomAD v4 |
| 10 | g.18539515_18539544dup | CA2608435629 | CACNB2,NSUN6 | c.1630_1659dup (p.Arg553_His554insAspGluThrHisGlySerSerAspHisArg) c.1495_1524dup (p.Arg508_His509insAspGluThrHisGlySerSerAspHisArg) c.1618_1647dup (p.Arg549_His550insAspGluThrHisGlySerSerAspHisArg) c.1690_1719dup (p.Arg573_His574insAspGluThrHisGlySerSerAspHisArg) c.1774_1803dup (p.Arg601_His602insAspGluThrHisGlySerSerAspHisArg) c.1612_1641dup (p.Arg547_His548insAspGluThrHisGlySerSerAspHisArg) c.1399_1428dup (p.Arg476_His477insAspGluThrHisGlySerSerAspHisArg) c.1576_1605dup (p.Arg535_His536insAspGluThrHisGlySerSerAspHisArg) c.*915_*944dup (n.*915_*944dup) c.1516_1545dup (p.Arg515_His516insAspGluThrHisGlySerSerAspHisArg) c.*1048_*1077dup (n.*1048_*1077dup) c.1331_1360dup (n.1331_1360dup) c.*1013_*1042dup (n.*1013_*1042dup) c.1594_1623dup (p.Arg541_His542insAspGluThrHisGlySerSerAspHisArg) c.*874_*903dup (n.*874_*903dup) c.1702_1731dup (p.Arg577_His578insAspGluThrHisGlySerSerAspHisArg) c.1024_1053dup (p.Arg351_His352insAspGluThrHisGlySerSerAspHisArg) c.1609_1638dup (p.Arg546_His547insAspGluThrHisGlySerSerAspHisArg) c.1478_1507dup (n.1478_1507dup) c.286_315dup (p.Arg105_His106insAspGluThrHisGlySerSerAspHisArg) c.859_888dup (p.Arg296_His297insAspGluThrHisGlySerSerAspHisArg) c.1537_1566dup (p.Arg522_His523insAspGluThrHisGlySerSerAspHisArg) c.1660_1689dup (p.Arg563_His564insAspGluThrHisGlySerSerAspHisArg) c.934_963dup (p.Arg321_His322insAspGluThrHisGlySerSerAspHisArg) c.1540_1569dup (p.Arg523_His524insAspGluThrHisGlySerSerAspHisArg) n.2423+2533_2423+2562dup n.1899_1928dup | gnomAD v4 |
| 10 | g.18539524_18539539del | CA2574454702 | CACNB2,NSUN6 | c.1639_1654del (p.His547ThrfsTer?) c.1504_1519del (p.His502ThrfsTer?) c.1627_1642del (p.His543ThrfsTer?) c.1699_1714del (p.His567ThrfsTer?) c.1783_1798del (p.His595ThrfsTer?) c.1621_1636del (p.His541ThrfsTer?) c.1408_1423del (p.His470ThrfsTer?) c.1585_1600del (p.His529ThrfsTer?) c.*924_*939del (n.*924_*939del) c.1525_1540del (p.His509ThrfsTer?) c.*1057_*1072del (n.*1057_*1072del) c.1340_1355del (n.1340_1355del) c.*1022_*1037del (n.*1022_*1037del) c.1603_1618del (p.His535ThrfsTer?) c.*883_*898del (n.*883_*898del) c.1711_1726del (p.His571ThrfsTer?) c.1033_1048del (p.His345ThrfsTer?) c.1618_1633del (p.His540ThrfsTer?) c.1487_1502del (n.1487_1502del) c.295_310del (p.His99ThrfsTer?) c.868_883del (p.His290ThrfsTer?) c.1546_1561del (p.His516ThrfsTer?) c.1669_1684del (p.His557ThrfsTer?) c.943_958del (p.His315ThrfsTer?) c.1549_1564del (p.His517ThrfsTer?) n.2423+2534_2423+2549del n.1908_1923del | gnomAD v4 |
| 10 | g.18539529_18539540delinsGAGCAGTGACCA | CA1894173767 | CACNB2,NSUN6 | c.1644_1655delinsGAGCAGTGACCA (p.Gly548=) c.1509_1520delinsGAGCAGTGACCA (p.Gly503=) c.1632_1643delinsGAGCAGTGACCA (p.Gly544=) c.1704_1715delinsGAGCAGTGACCA (p.Gly568=) c.1788_1799delinsGAGCAGTGACCA (p.Gly596=) c.1626_1637delinsGAGCAGTGACCA (p.Gly542=) c.1413_1424delinsGAGCAGTGACCA (p.Gly471=) c.1590_1601delinsGAGCAGTGACCA (p.Gly530=) c.*929_*940delinsGAGCAGTGACCA (n.*929_*940delinsGAGCAGTGACCA) c.1530_1541delinsGAGCAGTGACCA (p.Gly510=) c.*1062_*1073delinsGAGCAGTGACCA (n.*1062_*1073delinsGAGCAGTGACCA) c.1345_1356delinsGAGCAGTGACCA (n.1345_1356delinsGAGCAGTGACCA) c.*1027_*1038delinsGAGCAGTGACCA (n.*1027_*1038delinsGAGCAGTGACCA) c.1608_1619delinsGAGCAGTGACCA (p.Gly536=) c.*888_*899delinsGAGCAGTGACCA (n.*888_*899delinsGAGCAGTGACCA) c.1716_1727delinsGAGCAGTGACCA (p.Gly572=) c.1038_1049delinsGAGCAGTGACCA (p.Gly346=) c.1623_1634delinsGAGCAGTGACCA (p.Gly541=) c.1492_1503delinsGAGCAGTGACCA (n.1492_1503delinsGAGCAGTGACCA) c.300_311delinsGAGCAGTGACCA (p.Gly100=) c.873_884delinsGAGCAGTGACCA (p.Gly291=) c.1551_1562delinsGAGCAGTGACCA (p.Gly517=) c.1674_1685delinsGAGCAGTGACCA (p.Gly558=) c.948_959delinsGAGCAGTGACCA (p.Gly316=) c.1554_1565delinsGAGCAGTGACCA (p.Gly518=) n.2423+2529_2423+2540delinsTGGTCACTGCTC n.1913_1924delinsGAGCAGTGACCA | |
| 10 | g.18539530_18539540del | CA925494137 | CACNB2,NSUN6 | c.1645_1655del (p.Ser549GlnfsTer29) c.1510_1520del (p.Ser504GlnfsTer29) c.1633_1643del (p.Ser545GlnfsTer29) c.1705_1715del (p.Ser569GlnfsTer29) c.1789_1799del (p.Ser597GlnfsTer29) c.1627_1637del (p.Ser543GlnfsTer29) c.1414_1424del (p.Ser472GlnfsTer29) c.1591_1601del (p.Ser531GlnfsTer29) c.*930_*940del (n.*930_*940del) c.1531_1541del (p.Ser511GlnfsTer29) c.*1063_*1073del (n.*1063_*1073del) c.1346_1356del (n.1346_1356del) c.*1028_*1038del (n.*1028_*1038del) c.1609_1619del (p.Ser537GlnfsTer29) c.*889_*899del (n.*889_*899del) c.1717_1727del (p.Ser573GlnfsTer29) c.1039_1049del (p.Ser347GlnfsTer29) c.1624_1634del (p.Ser542GlnfsTer29) c.1493_1503del (n.1493_1503del) c.301_311del (p.Ser101GlnfsTer29) c.874_884del (p.Ser292GlnfsTer29) c.1552_1562del (p.Ser518GlnfsTer29) c.1675_1685del (p.Ser559GlnfsTer29) c.949_959del (p.Ser317GlnfsTer29) c.1555_1565del (p.Ser519GlnfsTer29) n.2423+2529_2423+2539del n.1914_1924del | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.18539532C>A | CA376072253 | CACNB2,NSUN6 | c.1647C>A (p.Ser549Arg) c.1512C>A (p.Ser504Arg) c.1635C>A (p.Ser545Arg) c.1707C>A (p.Ser569Arg) c.1791C>A (p.Ser597Arg) c.1629C>A (p.Ser543Arg) c.1416C>A (p.Ser472Arg) c.1593C>A (p.Ser531Arg) c.*932C>A (n.*932C>A) c.1533C>A (p.Ser511Arg) c.*1065C>A (n.*1065C>A) c.1348C>A (n.1348C>A) c.*1030C>A (n.*1030C>A) c.1611C>A (p.Ser537Arg) c.*891C>A (n.*891C>A) c.1719C>A (p.Ser573Arg) c.1041C>A (p.Ser347Arg) c.1626C>A (p.Ser542Arg) c.1495C>A (n.1495C>A) c.303C>A (p.Ser101Arg) c.876C>A (p.Ser292Arg) c.1554C>A (p.Ser518Arg) c.1677C>A (p.Ser559Arg) c.951C>A (p.Ser317Arg) c.1557C>A (p.Ser519Arg) n.2423+2537G>T n.1916C>A | |
| 10 | g.18539532C>G | CA376072251 | CACNB2,NSUN6 | c.1647C>G (p.Ser549Arg) c.1512C>G (p.Ser504Arg) c.1635C>G (p.Ser545Arg) c.1707C>G (p.Ser569Arg) c.1791C>G (p.Ser597Arg) c.1629C>G (p.Ser543Arg) c.1416C>G (p.Ser472Arg) c.1593C>G (p.Ser531Arg) c.*932C>G (n.*932C>G) c.1533C>G (p.Ser511Arg) c.*1065C>G (n.*1065C>G) c.1348C>G (n.1348C>G) c.*1030C>G (n.*1030C>G) c.1611C>G (p.Ser537Arg) c.*891C>G (n.*891C>G) c.1719C>G (p.Ser573Arg) c.1041C>G (p.Ser347Arg) c.1626C>G (p.Ser542Arg) c.1495C>G (n.1495C>G) c.303C>G (p.Ser101Arg) c.876C>G (p.Ser292Arg) c.1554C>G (p.Ser518Arg) c.1677C>G (p.Ser559Arg) c.951C>G (p.Ser317Arg) c.1557C>G (p.Ser519Arg) n.2423+2537G>C n.1916C>G | |
| 10 | g.18539532C>T | CA468629998 | CACNB2,NSUN6 | c.1647C>T (p.Ser549=) c.1512C>T (p.Ser504=) c.1635C>T (p.Ser545=) c.1707C>T (p.Ser569=) c.1791C>T (p.Ser597=) c.1629C>T (p.Ser543=) c.1416C>T (p.Ser472=) c.1593C>T (p.Ser531=) c.*932C>T (n.*932C>T) c.1533C>T (p.Ser511=) c.*1065C>T (n.*1065C>T) c.1348C>T (n.1348C>T) c.*1030C>T (n.*1030C>T) c.1611C>T (p.Ser537=) c.*891C>T (n.*891C>T) c.1719C>T (p.Ser573=) c.1041C>T (p.Ser347=) c.1626C>T (p.Ser542=) c.1495C>T (n.1495C>T) c.303C>T (p.Ser101=) c.876C>T (p.Ser292=) c.1554C>T (p.Ser518=) c.1677C>T (p.Ser559=) c.951C>T (p.Ser317=) c.1557C>T (p.Ser519=) n.2423+2537G>A n.1916C>T | |
| 10 | g.18539533A>C | CA376072260 | CACNB2,NSUN6 | c.1648A>C (p.Ser550Arg) c.1513A>C (p.Ser505Arg) c.1636A>C (p.Ser546Arg) c.1708A>C (p.Ser570Arg) c.1792A>C (p.Ser598Arg) c.1630A>C (p.Ser544Arg) c.1417A>C (p.Ser473Arg) c.1594A>C (p.Ser532Arg) c.*933A>C (n.*933A>C) c.1534A>C (p.Ser512Arg) c.*1066A>C (n.*1066A>C) c.1349A>C (n.1349A>C) c.*1031A>C (n.*1031A>C) c.1612A>C (p.Ser538Arg) c.*892A>C (n.*892A>C) c.1720A>C (p.Ser574Arg) c.1042A>C (p.Ser348Arg) c.1627A>C (p.Ser543Arg) c.1496A>C (n.1496A>C) c.304A>C (p.Ser102Arg) c.877A>C (p.Ser293Arg) c.1555A>C (p.Ser519Arg) c.1678A>C (p.Ser560Arg) c.952A>C (p.Ser318Arg) c.1558A>C (p.Ser520Arg) n.2423+2536T>G n.1917A>C | |
| 10 | g.18539533A>G | CA376072257 | CACNB2,NSUN6 | c.1648A>G (p.Ser550Gly) c.1513A>G (p.Ser505Gly) c.1636A>G (p.Ser546Gly) c.1708A>G (p.Ser570Gly) c.1792A>G (p.Ser598Gly) c.1630A>G (p.Ser544Gly) c.1417A>G (p.Ser473Gly) c.1594A>G (p.Ser532Gly) c.*933A>G (n.*933A>G) c.1534A>G (p.Ser512Gly) c.*1066A>G (n.*1066A>G) c.1349A>G (n.1349A>G) c.*1031A>G (n.*1031A>G) c.1612A>G (p.Ser538Gly) c.*892A>G (n.*892A>G) c.1720A>G (p.Ser574Gly) c.1042A>G (p.Ser348Gly) c.1627A>G (p.Ser543Gly) c.1496A>G (n.1496A>G) c.304A>G (p.Ser102Gly) c.877A>G (p.Ser293Gly) c.1555A>G (p.Ser519Gly) c.1678A>G (p.Ser560Gly) c.952A>G (p.Ser318Gly) c.1558A>G (p.Ser520Gly) n.2423+2536T>C n.1917A>G | |
| 10 | g.18539533A>T | CA376072261 | CACNB2,NSUN6 | c.1648A>T (p.Ser550Cys) c.1513A>T (p.Ser505Cys) c.1636A>T (p.Ser546Cys) c.1708A>T (p.Ser570Cys) c.1792A>T (p.Ser598Cys) c.1630A>T (p.Ser544Cys) c.1417A>T (p.Ser473Cys) c.1594A>T (p.Ser532Cys) c.*933A>T (n.*933A>T) c.1534A>T (p.Ser512Cys) c.*1066A>T (n.*1066A>T) c.1349A>T (n.1349A>T) c.*1031A>T (n.*1031A>T) c.1612A>T (p.Ser538Cys) c.*892A>T (n.*892A>T) c.1720A>T (p.Ser574Cys) c.1042A>T (p.Ser348Cys) c.1627A>T (p.Ser543Cys) c.1496A>T (n.1496A>T) c.304A>T (p.Ser102Cys) c.877A>T (p.Ser293Cys) c.1555A>T (p.Ser519Cys) c.1678A>T (p.Ser560Cys) c.952A>T (p.Ser318Cys) c.1558A>T (p.Ser520Cys) n.2423+2536T>A n.1917A>T | |
| 10 | g.18539534G>A | CA376072263 | CACNB2,NSUN6 | c.1649G>A (p.Ser550Asn) c.1514G>A (p.Ser505Asn) c.1637G>A (p.Ser546Asn) c.1709G>A (p.Ser570Asn) c.1793G>A (p.Ser598Asn) c.1631G>A (p.Ser544Asn) c.1418G>A (p.Ser473Asn) c.1595G>A (p.Ser532Asn) c.*934G>A (n.*934G>A) c.1535G>A (p.Ser512Asn) c.*1067G>A (n.*1067G>A) c.1350G>A (n.1350G>A) c.*1032G>A (n.*1032G>A) c.1613G>A (p.Ser538Asn) c.*893G>A (n.*893G>A) c.1721G>A (p.Ser574Asn) c.1043G>A (p.Ser348Asn) c.1628G>A (p.Ser543Asn) c.1497G>A (n.1497G>A) c.305G>A (p.Ser102Asn) c.878G>A (p.Ser293Asn) c.1556G>A (p.Ser519Asn) c.1679G>A (p.Ser560Asn) c.953G>A (p.Ser318Asn) c.1559G>A (p.Ser520Asn) n.2423+2535C>T n.1918G>A | |
| 10 | g.18539534G>C | CA376072265 | CACNB2,NSUN6 | c.1649G>C (p.Ser550Thr) c.1514G>C (p.Ser505Thr) c.1637G>C (p.Ser546Thr) c.1709G>C (p.Ser570Thr) c.1793G>C (p.Ser598Thr) c.1631G>C (p.Ser544Thr) c.1418G>C (p.Ser473Thr) c.1595G>C (p.Ser532Thr) c.*934G>C (n.*934G>C) c.1535G>C (p.Ser512Thr) c.*1067G>C (n.*1067G>C) c.1350G>C (n.1350G>C) c.*1032G>C (n.*1032G>C) c.1613G>C (p.Ser538Thr) c.*893G>C (n.*893G>C) c.1721G>C (p.Ser574Thr) c.1043G>C (p.Ser348Thr) c.1628G>C (p.Ser543Thr) c.1497G>C (n.1497G>C) c.305G>C (p.Ser102Thr) c.878G>C (p.Ser293Thr) c.1556G>C (p.Ser519Thr) c.1679G>C (p.Ser560Thr) c.953G>C (p.Ser318Thr) c.1559G>C (p.Ser520Thr) n.2423+2535C>G n.1918G>C | ClinVar gnomAD v4 |
| 10 | g.18539534G>T | CA376072267 | CACNB2,NSUN6 | c.1649G>T (p.Ser550Ile) c.1514G>T (p.Ser505Ile) c.1637G>T (p.Ser546Ile) c.1709G>T (p.Ser570Ile) c.1793G>T (p.Ser598Ile) c.1631G>T (p.Ser544Ile) c.1418G>T (p.Ser473Ile) c.1595G>T (p.Ser532Ile) c.*934G>T (n.*934G>T) c.1535G>T (p.Ser512Ile) c.*1067G>T (n.*1067G>T) c.1350G>T (n.1350G>T) c.*1032G>T (n.*1032G>T) c.1613G>T (p.Ser538Ile) c.*893G>T (n.*893G>T) c.1721G>T (p.Ser574Ile) c.1043G>T (p.Ser348Ile) c.1628G>T (p.Ser543Ile) c.1497G>T (n.1497G>T) c.305G>T (p.Ser102Ile) c.878G>T (p.Ser293Ile) c.1556G>T (p.Ser519Ile) c.1679G>T (p.Ser560Ile) c.953G>T (p.Ser318Ile) c.1559G>T (p.Ser520Ile) n.2423+2535C>A n.1918G>T | |
| 10 | g.18539535T>A | CA376072269 | CACNB2,NSUN6 | c.1650T>A (p.Ser550Arg) c.1515T>A (p.Ser505Arg) c.1638T>A (p.Ser546Arg) c.1710T>A (p.Ser570Arg) c.1794T>A (p.Ser598Arg) c.1632T>A (p.Ser544Arg) c.1419T>A (p.Ser473Arg) c.1596T>A (p.Ser532Arg) c.*935T>A (n.*935T>A) c.1536T>A (p.Ser512Arg) c.*1068T>A (n.*1068T>A) c.1351T>A (n.1351T>A) c.*1033T>A (n.*1033T>A) c.1614T>A (p.Ser538Arg) c.*894T>A (n.*894T>A) c.1722T>A (p.Ser574Arg) c.1044T>A (p.Ser348Arg) c.1629T>A (p.Ser543Arg) c.1498T>A (n.1498T>A) c.306T>A (p.Ser102Arg) c.879T>A (p.Ser293Arg) c.1557T>A (p.Ser519Arg) c.1680T>A (p.Ser560Arg) c.954T>A (p.Ser318Arg) c.1560T>A (p.Ser520Arg) n.2423+2534A>T n.1919T>A | |
| 10 | g.18539535T>C | CA5430171 | CACNB2,NSUN6 | c.1650T>C (p.Ser550=) c.1515T>C (p.Ser505=) c.1638T>C (p.Ser546=) c.1710T>C (p.Ser570=) c.1794T>C (p.Ser598=) c.1632T>C (p.Ser544=) c.1419T>C (p.Ser473=) c.1596T>C (p.Ser532=) c.*935T>C (n.*935T>C) c.1536T>C (p.Ser512=) c.*1068T>C (n.*1068T>C) c.1351T>C (n.1351T>C) c.*1033T>C (n.*1033T>C) c.1614T>C (p.Ser538=) c.*894T>C (n.*894T>C) c.1722T>C (p.Ser574=) c.1044T>C (p.Ser348=) c.1629T>C (p.Ser543=) c.1498T>C (n.1498T>C) c.306T>C (p.Ser102=) c.879T>C (p.Ser293=) c.1557T>C (p.Ser519=) c.1680T>C (p.Ser560=) c.954T>C (p.Ser318=) c.1560T>C (p.Ser520=) n.2423+2534A>G n.1919T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.18539535T>G | CA376072272 | CACNB2,NSUN6 | c.1650T>G (p.Ser550Arg) c.1515T>G (p.Ser505Arg) c.1638T>G (p.Ser546Arg) c.1710T>G (p.Ser570Arg) c.1794T>G (p.Ser598Arg) c.1632T>G (p.Ser544Arg) c.1419T>G (p.Ser473Arg) c.1596T>G (p.Ser532Arg) c.*935T>G (n.*935T>G) c.1536T>G (p.Ser512Arg) c.*1068T>G (n.*1068T>G) c.1351T>G (n.1351T>G) c.*1033T>G (n.*1033T>G) c.1614T>G (p.Ser538Arg) c.*894T>G (n.*894T>G) c.1722T>G (p.Ser574Arg) c.1044T>G (p.Ser348Arg) c.1629T>G (p.Ser543Arg) c.1498T>G (n.1498T>G) c.306T>G (p.Ser102Arg) c.879T>G (p.Ser293Arg) c.1557T>G (p.Ser519Arg) c.1680T>G (p.Ser560Arg) c.954T>G (p.Ser318Arg) c.1560T>G (p.Ser520Arg) n.2423+2534A>C n.1919T>G | |
| 10 | g.18539535T= | CA1894173779 | CACNB2,NSUN6 | c.1650T= (p.Ser550=) c.1515T= (p.Ser505=) c.1638T= (p.Ser546=) c.1710T= (p.Ser570=) c.1794T= (p.Ser598=) c.1632T= (p.Ser544=) c.1419T= (p.Ser473=) c.1596T= (p.Ser532=) c.*935T= (n.*935T=) c.1536T= (p.Ser512=) c.*1068T= (n.*1068T=) c.1351T= (n.1351T=) c.*1033T= (n.*1033T=) c.1614T= (p.Ser538=) c.*894T= (n.*894T=) c.1722T= (p.Ser574=) c.1044T= (p.Ser348=) c.1629T= (p.Ser543=) c.1498T= (n.1498T=) c.306T= (p.Ser102=) c.879T= (p.Ser293=) c.1557T= (p.Ser519=) c.1680T= (p.Ser560=) c.954T= (p.Ser318=) c.1560T= (p.Ser520=) n.2423+2534A= n.1919T= | |
| 10 | g.18539536G>A | CA376072274 | CACNB2,NSUN6 | c.1651G>A (p.Asp551Asn) c.1516G>A (p.Asp506Asn) c.1639G>A (p.Asp547Asn) c.1711G>A (p.Asp571Asn) c.1795G>A (p.Asp599Asn) c.1633G>A (p.Asp545Asn) c.1420G>A (p.Asp474Asn) c.1597G>A (p.Asp533Asn) c.*936G>A (n.*936G>A) c.1537G>A (p.Asp513Asn) c.*1069G>A (n.*1069G>A) c.1352G>A (n.1352G>A) c.*1034G>A (n.*1034G>A) c.1615G>A (p.Asp539Asn) c.*895G>A (n.*895G>A) c.1723G>A (p.Asp575Asn) c.1045G>A (p.Asp349Asn) c.1630G>A (p.Asp544Asn) c.1499G>A (n.1499G>A) c.307G>A (p.Asp103Asn) c.880G>A (p.Asp294Asn) c.1558G>A (p.Asp520Asn) c.1681G>A (p.Asp561Asn) c.955G>A (p.Asp319Asn) c.1561G>A (p.Asp521Asn) n.2423+2533C>T n.1920G>A | |
| 10 | g.18539536G>C | CA376072275 | CACNB2,NSUN6 | c.1651G>C (p.Asp551His) c.1516G>C (p.Asp506His) c.1639G>C (p.Asp547His) c.1711G>C (p.Asp571His) c.1795G>C (p.Asp599His) c.1633G>C (p.Asp545His) c.1420G>C (p.Asp474His) c.1597G>C (p.Asp533His) c.*936G>C (n.*936G>C) c.1537G>C (p.Asp513His) c.*1069G>C (n.*1069G>C) c.1352G>C (n.1352G>C) c.*1034G>C (n.*1034G>C) c.1615G>C (p.Asp539His) c.*895G>C (n.*895G>C) c.1723G>C (p.Asp575His) c.1045G>C (p.Asp349His) c.1630G>C (p.Asp544His) c.1499G>C (n.1499G>C) c.307G>C (p.Asp103His) c.880G>C (p.Asp294His) c.1558G>C (p.Asp520His) c.1681G>C (p.Asp561His) c.955G>C (p.Asp319His) c.1561G>C (p.Asp521His) n.2423+2533C>G n.1920G>C | |
| 10 | g.18539536G>T | CA376072277 | CACNB2,NSUN6 | c.1651G>T (p.Asp551Tyr) c.1516G>T (p.Asp506Tyr) c.1639G>T (p.Asp547Tyr) c.1711G>T (p.Asp571Tyr) c.1795G>T (p.Asp599Tyr) c.1633G>T (p.Asp545Tyr) c.1420G>T (p.Asp474Tyr) c.1597G>T (p.Asp533Tyr) c.*936G>T (n.*936G>T) c.1537G>T (p.Asp513Tyr) c.*1069G>T (n.*1069G>T) c.1352G>T (n.1352G>T) c.*1034G>T (n.*1034G>T) c.1615G>T (p.Asp539Tyr) c.*895G>T (n.*895G>T) c.1723G>T (p.Asp575Tyr) c.1045G>T (p.Asp349Tyr) c.1630G>T (p.Asp544Tyr) c.1499G>T (n.1499G>T) c.307G>T (p.Asp103Tyr) c.880G>T (p.Asp294Tyr) c.1558G>T (p.Asp520Tyr) c.1681G>T (p.Asp561Tyr) c.955G>T (p.Asp319Tyr) c.1561G>T (p.Asp521Tyr) n.2423+2533C>A n.1920G>T | |
| 10 | g.18539537A>C | CA376072288 | CACNB2,NSUN6 | c.1652A>C (p.Asp551Ala) c.1517A>C (p.Asp506Ala) c.1640A>C (p.Asp547Ala) c.1712A>C (p.Asp571Ala) c.1796A>C (p.Asp599Ala) c.1634A>C (p.Asp545Ala) c.1421A>C (p.Asp474Ala) c.1598A>C (p.Asp533Ala) c.*937A>C (n.*937A>C) c.1538A>C (p.Asp513Ala) c.*1070A>C (n.*1070A>C) c.1353A>C (n.1353A>C) c.*1035A>C (n.*1035A>C) c.1616A>C (p.Asp539Ala) c.*896A>C (n.*896A>C) c.1724A>C (p.Asp575Ala) c.1046A>C (p.Asp349Ala) c.1631A>C (p.Asp544Ala) c.1500A>C (n.1500A>C) c.308A>C (p.Asp103Ala) c.881A>C (p.Asp294Ala) c.1559A>C (p.Asp520Ala) c.1682A>C (p.Asp561Ala) c.956A>C (p.Asp319Ala) c.1562A>C (p.Asp521Ala) n.2423+2532T>G n.1921A>C | |
| 10 | g.18539537A>G | CA376072290 | CACNB2,NSUN6 | c.1652A>G (p.Asp551Gly) c.1517A>G (p.Asp506Gly) c.1640A>G (p.Asp547Gly) c.1712A>G (p.Asp571Gly) c.1796A>G (p.Asp599Gly) c.1634A>G (p.Asp545Gly) c.1421A>G (p.Asp474Gly) c.1598A>G (p.Asp533Gly) c.*937A>G (n.*937A>G) c.1538A>G (p.Asp513Gly) c.*1070A>G (n.*1070A>G) c.1353A>G (n.1353A>G) c.*1035A>G (n.*1035A>G) c.1616A>G (p.Asp539Gly) c.*896A>G (n.*896A>G) c.1724A>G (p.Asp575Gly) c.1046A>G (p.Asp349Gly) c.1631A>G (p.Asp544Gly) c.1500A>G (n.1500A>G) c.308A>G (p.Asp103Gly) c.881A>G (p.Asp294Gly) c.1559A>G (p.Asp520Gly) c.1682A>G (p.Asp561Gly) c.956A>G (p.Asp319Gly) c.1562A>G (p.Asp521Gly) n.2423+2532T>C n.1921A>G | |
| 10 | g.18539537A>T | CA376072294 | CACNB2,NSUN6 | c.1652A>T (p.Asp551Val) c.1517A>T (p.Asp506Val) c.1640A>T (p.Asp547Val) c.1712A>T (p.Asp571Val) c.1796A>T (p.Asp599Val) c.1634A>T (p.Asp545Val) c.1421A>T (p.Asp474Val) c.1598A>T (p.Asp533Val) c.*937A>T (n.*937A>T) c.1538A>T (p.Asp513Val) c.*1070A>T (n.*1070A>T) c.1353A>T (n.1353A>T) c.*1035A>T (n.*1035A>T) c.1616A>T (p.Asp539Val) c.*896A>T (n.*896A>T) c.1724A>T (p.Asp575Val) c.1046A>T (p.Asp349Val) c.1631A>T (p.Asp544Val) c.1500A>T (n.1500A>T) c.308A>T (p.Asp103Val) c.881A>T (p.Asp294Val) c.1559A>T (p.Asp520Val) c.1682A>T (p.Asp561Val) c.956A>T (p.Asp319Val) c.1562A>T (p.Asp521Val) n.2423+2532T>A n.1921A>T | |
| 10 | g.18539538C>A | CA376072298 | CACNB2,NSUN6 | c.1653C>A (p.Asp551Glu) c.1518C>A (p.Asp506Glu) c.1641C>A (p.Asp547Glu) c.1713C>A (p.Asp571Glu) c.1797C>A (p.Asp599Glu) c.1635C>A (p.Asp545Glu) c.1422C>A (p.Asp474Glu) c.1599C>A (p.Asp533Glu) c.*938C>A (n.*938C>A) c.1539C>A (p.Asp513Glu) c.*1071C>A (n.*1071C>A) c.1354C>A (n.1354C>A) c.*1036C>A (n.*1036C>A) c.1617C>A (p.Asp539Glu) c.*897C>A (n.*897C>A) c.1725C>A (p.Asp575Glu) c.1047C>A (p.Asp349Glu) c.1632C>A (p.Asp544Glu) c.1501C>A (n.1501C>A) c.309C>A (p.Asp103Glu) c.882C>A (p.Asp294Glu) c.1560C>A (p.Asp520Glu) c.1683C>A (p.Asp561Glu) c.957C>A (p.Asp319Glu) c.1563C>A (p.Asp521Glu) n.2423+2531G>T n.1922C>A | |
| 10 | g.18539538C= | CA1894173785 | CACNB2,NSUN6 | c.1653C= (p.Asp551=) c.1518C= (p.Asp506=) c.1641C= (p.Asp547=) c.1713C= (p.Asp571=) c.1797C= (p.Asp599=) c.1635C= (p.Asp545=) c.1422C= (p.Asp474=) c.1599C= (p.Asp533=) c.*938C= (n.*938C=) c.1539C= (p.Asp513=) c.*1071C= (n.*1071C=) c.1354C= (n.1354C=) c.*1036C= (n.*1036C=) c.1617C= (p.Asp539=) c.*897C= (n.*897C=) c.1725C= (p.Asp575=) c.1047C= (p.Asp349=) c.1632C= (p.Asp544=) c.1501C= (n.1501C=) c.309C= (p.Asp103=) c.882C= (p.Asp294=) c.1560C= (p.Asp520=) c.1683C= (p.Asp561=) c.957C= (p.Asp319=) c.1563C= (p.Asp521=) n.2423+2531G= n.1922C= | |
| 10 | g.18539538C>G | CA376072296 | CACNB2,NSUN6 | c.1653C>G (p.Asp551Glu) c.1518C>G (p.Asp506Glu) c.1641C>G (p.Asp547Glu) c.1713C>G (p.Asp571Glu) c.1797C>G (p.Asp599Glu) c.1635C>G (p.Asp545Glu) c.1422C>G (p.Asp474Glu) c.1599C>G (p.Asp533Glu) c.*938C>G (n.*938C>G) c.1539C>G (p.Asp513Glu) c.*1071C>G (n.*1071C>G) c.1354C>G (n.1354C>G) c.*1036C>G (n.*1036C>G) c.1617C>G (p.Asp539Glu) c.*897C>G (n.*897C>G) c.1725C>G (p.Asp575Glu) c.1047C>G (p.Asp349Glu) c.1632C>G (p.Asp544Glu) c.1501C>G (n.1501C>G) c.309C>G (p.Asp103Glu) c.882C>G (p.Asp294Glu) c.1560C>G (p.Asp520Glu) c.1683C>G (p.Asp561Glu) c.957C>G (p.Asp319Glu) c.1563C>G (p.Asp521Glu) n.2423+2531G>C n.1922C>G | |
| 10 | g.18539538C>T | CA16612851 | CACNB2,NSUN6 | c.1653C>T (p.Asp551=) c.1518C>T (p.Asp506=) c.1641C>T (p.Asp547=) c.1713C>T (p.Asp571=) c.1797C>T (p.Asp599=) c.1635C>T (p.Asp545=) c.1422C>T (p.Asp474=) c.1599C>T (p.Asp533=) c.*938C>T (n.*938C>T) c.1539C>T (p.Asp513=) c.*1071C>T (n.*1071C>T) c.1354C>T (n.1354C>T) c.*1036C>T (n.*1036C>T) c.1617C>T (p.Asp539=) c.*897C>T (n.*897C>T) c.1725C>T (p.Asp575=) c.1047C>T (p.Asp349=) c.1632C>T (p.Asp544=) c.1501C>T (n.1501C>T) c.309C>T (p.Asp103=) c.882C>T (p.Asp294=) c.1560C>T (p.Asp520=) c.1683C>T (p.Asp561=) c.957C>T (p.Asp319=) c.1563C>T (p.Asp521=) n.2423+2531G>A n.1922C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.18539540_18539557dup | CA2608435634 | CACNB2,NSUN6 | c.1655_1672dup (p.Ser557_Arg558insHisArgHisArgGluSer) c.1520_1537dup (p.Ser512_Arg513insHisArgHisArgGluSer) c.1643_1660dup (p.Ser553_Arg554insHisArgHisArgGluSer) c.1715_1732dup (p.Ser577_Arg578insHisArgHisArgGluSer) c.1799_1816dup (p.Ser605_Arg606insHisArgHisArgGluSer) c.1637_1654dup (p.Ser551_Arg552insHisArgHisArgGluSer) c.1424_1441dup (p.Ser480_Arg481insHisArgHisArgGluSer) c.1601_1618dup (p.Ser539_Arg540insHisArgHisArgGluSer) c.*940_*957dup (n.*940_*957dup) c.1541_1558dup (p.Ser519_Arg520insHisArgHisArgGluSer) c.*1073_*1090dup (n.*1073_*1090dup) c.1356_1373dup (n.1356_1373dup) c.*1038_*1055dup (n.*1038_*1055dup) c.1619_1636dup (p.Ser545_Arg546insHisArgHisArgGluSer) c.*899_*916dup (n.*899_*916dup) c.1727_1744dup (p.Ser581_Arg582insHisArgHisArgGluSer) c.1049_1066dup (p.Ser355_Arg356insHisArgHisArgGluSer) c.1634_1651dup (p.Ser550_Arg551insHisArgHisArgGluSer) c.1503_1520dup (n.1503_1520dup) c.311_328dup (p.Ser109_Arg110insHisArgHisArgGluSer) c.884_901dup (p.Ser300_Arg301insHisArgHisArgGluSer) c.1562_1579dup (p.Ser526_Arg527insHisArgHisArgGluSer) c.1685_1702dup (p.Ser567_Arg568insHisArgHisArgGluSer) c.959_976dup (p.Ser325_Arg326insHisArgHisArgGluSer) c.1565_1582dup (p.Ser527_Arg528insHisArgHisArgGluSer) n.2423+2514_2423+2531dup n.1924_1941dup | gnomAD v4 |
| 10 | g.18539539C>A | CA376072303 | CACNB2,NSUN6 | c.1654C>A (p.His552Asn) c.1519C>A (p.His507Asn) c.1642C>A (p.His548Asn) c.1714C>A (p.His572Asn) c.1798C>A (p.His600Asn) c.1636C>A (p.His546Asn) c.1423C>A (p.His475Asn) c.1600C>A (p.His534Asn) c.*939C>A (n.*939C>A) c.1540C>A (p.His514Asn) c.*1072C>A (n.*1072C>A) c.1355C>A (n.1355C>A) c.*1037C>A (n.*1037C>A) c.1618C>A (p.His540Asn) c.*898C>A (n.*898C>A) c.1726C>A (p.His576Asn) c.1048C>A (p.His350Asn) c.1633C>A (p.His545Asn) c.1502C>A (n.1502C>A) c.310C>A (p.His104Asn) c.883C>A (p.His295Asn) c.1561C>A (p.His521Asn) c.1684C>A (p.His562Asn) c.958C>A (p.His320Asn) c.1564C>A (p.His522Asn) n.2423+2530G>T n.1923C>A | |
| 10 | g.18539539C>G | CA376072310 | CACNB2,NSUN6 | c.1654C>G (p.His552Asp) c.1519C>G (p.His507Asp) c.1642C>G (p.His548Asp) c.1714C>G (p.His572Asp) c.1798C>G (p.His600Asp) c.1636C>G (p.His546Asp) c.1423C>G (p.His475Asp) c.1600C>G (p.His534Asp) c.*939C>G (n.*939C>G) c.1540C>G (p.His514Asp) c.*1072C>G (n.*1072C>G) c.1355C>G (n.1355C>G) c.*1037C>G (n.*1037C>G) c.1618C>G (p.His540Asp) c.*898C>G (n.*898C>G) c.1726C>G (p.His576Asp) c.1048C>G (p.His350Asp) c.1633C>G (p.His545Asp) c.1502C>G (n.1502C>G) c.310C>G (p.His104Asp) c.883C>G (p.His295Asp) c.1561C>G (p.His521Asp) c.1684C>G (p.His562Asp) c.958C>G (p.His320Asp) c.1564C>G (p.His522Asp) n.2423+2530G>C n.1923C>G | |
| 10 | g.18539539C>T | CA376072313 | CACNB2,NSUN6 | c.1654C>T (p.His552Tyr) c.1519C>T (p.His507Tyr) c.1642C>T (p.His548Tyr) c.1714C>T (p.His572Tyr) c.1798C>T (p.His600Tyr) c.1636C>T (p.His546Tyr) c.1423C>T (p.His475Tyr) c.1600C>T (p.His534Tyr) c.*939C>T (n.*939C>T) c.1540C>T (p.His514Tyr) c.*1072C>T (n.*1072C>T) c.1355C>T (n.1355C>T) c.*1037C>T (n.*1037C>T) c.1618C>T (p.His540Tyr) c.*898C>T (n.*898C>T) c.1726C>T (p.His576Tyr) c.1048C>T (p.His350Tyr) c.1633C>T (p.His545Tyr) c.1502C>T (n.1502C>T) c.310C>T (p.His104Tyr) c.883C>T (p.His295Tyr) c.1561C>T (p.His521Tyr) c.1684C>T (p.His562Tyr) c.958C>T (p.His320Tyr) c.1564C>T (p.His522Tyr) n.2423+2530G>A n.1923C>T | gnomAD v4 |
| 10 | g.18539544_18539549del | CA2608435635 | CACNB2,NSUN6 | c.1659_1664del (p.His554_Arg555del) c.1524_1529del (p.His509_Arg510del) c.1647_1652del (p.His550_Arg551del) c.1719_1724del (p.His574_Arg575del) c.1803_1808del (p.His602_Arg603del) c.1641_1646del (p.His548_Arg549del) c.1428_1433del (p.His477_Arg478del) c.1605_1610del (p.His536_Arg537del) c.*944_*949del (n.*944_*949del) c.1545_1550del (p.His516_Arg517del) c.*1077_*1082del (n.*1077_*1082del) c.1360_1365del (n.1360_1365del) c.*1042_*1047del (n.*1042_*1047del) c.1623_1628del (p.His542_Arg543del) c.*903_*908del (n.*903_*908del) c.1731_1736del (p.His578_Arg579del) c.1053_1058del (p.His352_Arg353del) c.1638_1643del (p.His547_Arg548del) c.1507_1512del (n.1507_1512del) c.315_320del (p.His106_Arg107del) c.888_893del (p.His297_Arg298del) c.1566_1571del (p.His523_Arg524del) c.1689_1694del (p.His564_Arg565del) c.963_968del (p.His322_Arg323del) c.1569_1574del (p.His524_Arg525del) n.2423+2525_2423+2530del n.1928_1933del | gnomAD v4 |
| 10 | g.18539540A>C | CA376072315 | CACNB2,NSUN6 | c.1655A>C (p.His552Pro) c.1520A>C (p.His507Pro) c.1643A>C (p.His548Pro) c.1715A>C (p.His572Pro) c.1799A>C (p.His600Pro) c.1637A>C (p.His546Pro) c.1424A>C (p.His475Pro) c.1601A>C (p.His534Pro) c.*940A>C (n.*940A>C) c.1541A>C (p.His514Pro) c.*1073A>C (n.*1073A>C) c.1356A>C (n.1356A>C) c.*1038A>C (n.*1038A>C) c.1619A>C (p.His540Pro) c.*899A>C (n.*899A>C) c.1727A>C (p.His576Pro) c.1049A>C (p.His350Pro) c.1634A>C (p.His545Pro) c.1503A>C (n.1503A>C) c.311A>C (p.His104Pro) c.884A>C (p.His295Pro) c.1562A>C (p.His521Pro) c.1685A>C (p.His562Pro) c.959A>C (p.His320Pro) c.1565A>C (p.His522Pro) n.2423+2529T>G n.1924A>C | |
| 10 | g.18539540A>G | CA376072318 | CACNB2,NSUN6 | c.1655A>G (p.His552Arg) c.1520A>G (p.His507Arg) c.1643A>G (p.His548Arg) c.1715A>G (p.His572Arg) c.1799A>G (p.His600Arg) c.1637A>G (p.His546Arg) c.1424A>G (p.His475Arg) c.1601A>G (p.His534Arg) c.*940A>G (n.*940A>G) c.1541A>G (p.His514Arg) c.*1073A>G (n.*1073A>G) c.1356A>G (n.1356A>G) c.*1038A>G (n.*1038A>G) c.1619A>G (p.His540Arg) c.*899A>G (n.*899A>G) c.1727A>G (p.His576Arg) c.1049A>G (p.His350Arg) c.1634A>G (p.His545Arg) c.1503A>G (n.1503A>G) c.311A>G (p.His104Arg) c.884A>G (p.His295Arg) c.1562A>G (p.His521Arg) c.1685A>G (p.His562Arg) c.959A>G (p.His320Arg) c.1565A>G (p.His522Arg) n.2423+2529T>C n.1924A>G | |
| 10 | g.18539540A>T | CA376072320 | CACNB2,NSUN6 | c.1655A>T (p.His552Leu) c.1520A>T (p.His507Leu) c.1643A>T (p.His548Leu) c.1715A>T (p.His572Leu) c.1799A>T (p.His600Leu) c.1637A>T (p.His546Leu) c.1424A>T (p.His475Leu) c.1601A>T (p.His534Leu) c.*940A>T (n.*940A>T) c.1541A>T (p.His514Leu) c.*1073A>T (n.*1073A>T) c.1356A>T (n.1356A>T) c.*1038A>T (n.*1038A>T) c.1619A>T (p.His540Leu) c.*899A>T (n.*899A>T) c.1727A>T (p.His576Leu) c.1049A>T (p.His350Leu) c.1634A>T (p.His545Leu) c.1503A>T (n.1503A>T) c.311A>T (p.His104Leu) c.884A>T (p.His295Leu) c.1562A>T (p.His521Leu) c.1685A>T (p.His562Leu) c.959A>T (p.His320Leu) c.1565A>T (p.His522Leu) n.2423+2529T>A n.1924A>T | |
| 10 | g.18539541C>A | CA376072323 | CACNB2,NSUN6 | c.1656C>A (p.His552Gln) c.1521C>A (p.His507Gln) c.1644C>A (p.His548Gln) c.1716C>A (p.His572Gln) c.1800C>A (p.His600Gln) c.1638C>A (p.His546Gln) c.1425C>A (p.His475Gln) c.1602C>A (p.His534Gln) c.*941C>A (n.*941C>A) c.1542C>A (p.His514Gln) c.*1074C>A (n.*1074C>A) c.1357C>A (n.1357C>A) c.*1039C>A (n.*1039C>A) c.1620C>A (p.His540Gln) c.*900C>A (n.*900C>A) c.1728C>A (p.His576Gln) c.1050C>A (p.His350Gln) c.1635C>A (p.His545Gln) c.1504C>A (n.1504C>A) c.312C>A (p.His104Gln) c.885C>A (p.His295Gln) c.1563C>A (p.His521Gln) c.1686C>A (p.His562Gln) c.960C>A (p.His320Gln) c.1566C>A (p.His522Gln) n.2423+2528G>T n.1925C>A | gnomAD v4 |
| 10 | g.18539541C>G | CA376072324 | CACNB2,NSUN6 | c.1656C>G (p.His552Gln) c.1521C>G (p.His507Gln) c.1644C>G (p.His548Gln) c.1716C>G (p.His572Gln) c.1800C>G (p.His600Gln) c.1638C>G (p.His546Gln) c.1425C>G (p.His475Gln) c.1602C>G (p.His534Gln) c.*941C>G (n.*941C>G) c.1542C>G (p.His514Gln) c.*1074C>G (n.*1074C>G) c.1357C>G (n.1357C>G) c.*1039C>G (n.*1039C>G) c.1620C>G (p.His540Gln) c.*900C>G (n.*900C>G) c.1728C>G (p.His576Gln) c.1050C>G (p.His350Gln) c.1635C>G (p.His545Gln) c.1504C>G (n.1504C>G) c.312C>G (p.His104Gln) c.885C>G (p.His295Gln) c.1563C>G (p.His521Gln) c.1686C>G (p.His562Gln) c.960C>G (p.His320Gln) c.1566C>G (p.His522Gln) n.2423+2528G>C n.1925C>G | |
| 10 | g.18539541C>T | CA468630053 | CACNB2,NSUN6 | c.1656C>T (p.His552=) c.1521C>T (p.His507=) c.1644C>T (p.His548=) c.1716C>T (p.His572=) c.1800C>T (p.His600=) c.1638C>T (p.His546=) c.1425C>T (p.His475=) c.1602C>T (p.His534=) c.*941C>T (n.*941C>T) c.1542C>T (p.His514=) c.*1074C>T (n.*1074C>T) c.1357C>T (n.1357C>T) c.*1039C>T (n.*1039C>T) c.1620C>T (p.His540=) c.*900C>T (n.*900C>T) c.1728C>T (p.His576=) c.1050C>T (p.His350=) c.1635C>T (p.His545=) c.1504C>T (n.1504C>T) c.312C>T (p.His104=) c.885C>T (p.His295=) c.1563C>T (p.His521=) c.1686C>T (p.His562=) c.960C>T (p.His320=) c.1566C>T (p.His522=) n.2423+2528G>A n.1925C>T | |
| 10 | g.18539542A>C | CA468630058 | CACNB2,NSUN6 | c.1657A>C (p.Arg553=) c.1522A>C (p.Arg508=) c.1645A>C (p.Arg549=) c.1717A>C (p.Arg573=) c.1801A>C (p.Arg601=) c.1639A>C (p.Arg547=) c.1426A>C (p.Arg476=) c.1603A>C (p.Arg535=) c.*942A>C (n.*942A>C) c.1543A>C (p.Arg515=) c.*1075A>C (n.*1075A>C) c.1358A>C (n.1358A>C) c.*1040A>C (n.*1040A>C) c.1621A>C (p.Arg541=) c.*901A>C (n.*901A>C) c.1729A>C (p.Arg577=) c.1051A>C (p.Arg351=) c.1636A>C (p.Arg546=) c.1505A>C (n.1505A>C) c.313A>C (p.Arg105=) c.886A>C (p.Arg296=) c.1564A>C (p.Arg522=) c.1687A>C (p.Arg563=) c.961A>C (p.Arg321=) c.1567A>C (p.Arg523=) n.2423+2527T>G n.1926A>C | |
| 10 | g.18539542A>G | CA376072327 | CACNB2,NSUN6 | c.1657A>G (p.Arg553Gly) c.1522A>G (p.Arg508Gly) c.1645A>G (p.Arg549Gly) c.1717A>G (p.Arg573Gly) c.1801A>G (p.Arg601Gly) c.1639A>G (p.Arg547Gly) c.1426A>G (p.Arg476Gly) c.1603A>G (p.Arg535Gly) c.*942A>G (n.*942A>G) c.1543A>G (p.Arg515Gly) c.*1075A>G (n.*1075A>G) c.1358A>G (n.1358A>G) c.*1040A>G (n.*1040A>G) c.1621A>G (p.Arg541Gly) c.*901A>G (n.*901A>G) c.1729A>G (p.Arg577Gly) c.1051A>G (p.Arg351Gly) c.1636A>G (p.Arg546Gly) c.1505A>G (n.1505A>G) c.313A>G (p.Arg105Gly) c.886A>G (p.Arg296Gly) c.1564A>G (p.Arg522Gly) c.1687A>G (p.Arg563Gly) c.961A>G (p.Arg321Gly) c.1567A>G (p.Arg523Gly) n.2423+2527T>C n.1926A>G | |
| 10 | g.18539542A>T | CA376072329 | CACNB2,NSUN6 | c.1657A>T (p.Arg553Ter) c.1522A>T (p.Arg508Ter) c.1645A>T (p.Arg549Ter) c.1717A>T (p.Arg573Ter) c.1801A>T (p.Arg601Ter) c.1639A>T (p.Arg547Ter) c.1426A>T (p.Arg476Ter) c.1603A>T (p.Arg535Ter) c.*942A>T (n.*942A>T) c.1543A>T (p.Arg515Ter) c.*1075A>T (n.*1075A>T) c.1358A>T (n.1358A>T) c.*1040A>T (n.*1040A>T) c.1621A>T (p.Arg541Ter) c.*901A>T (n.*901A>T) c.1729A>T (p.Arg577Ter) c.1051A>T (p.Arg351Ter) c.1636A>T (p.Arg546Ter) c.1505A>T (n.1505A>T) c.313A>T (p.Arg105Ter) c.886A>T (p.Arg296Ter) c.1564A>T (p.Arg522Ter) c.1687A>T (p.Arg563Ter) c.961A>T (p.Arg321Ter) c.1567A>T (p.Arg523Ter) n.2423+2527T>A n.1926A>T | |
| 10 | g.18539543G>A | CA376072333 | CACNB2,NSUN6 | c.1658G>A (p.Arg553Lys) c.1523G>A (p.Arg508Lys) c.1646G>A (p.Arg549Lys) c.1718G>A (p.Arg573Lys) c.1802G>A (p.Arg601Lys) c.1640G>A (p.Arg547Lys) c.1427G>A (p.Arg476Lys) c.1604G>A (p.Arg535Lys) c.*943G>A (n.*943G>A) c.1544G>A (p.Arg515Lys) c.*1076G>A (n.*1076G>A) c.1359G>A (n.1359G>A) c.*1041G>A (n.*1041G>A) c.1622G>A (p.Arg541Lys) c.*902G>A (n.*902G>A) c.1730G>A (p.Arg577Lys) c.1052G>A (p.Arg351Lys) c.1637G>A (p.Arg546Lys) c.1506G>A (n.1506G>A) c.314G>A (p.Arg105Lys) c.887G>A (p.Arg296Lys) c.1565G>A (p.Arg522Lys) c.1688G>A (p.Arg563Lys) c.962G>A (p.Arg321Lys) c.1568G>A (p.Arg523Lys) n.2423+2526C>T n.1927G>A | gnomAD v4 |
| 10 | g.18539543G>C | CA376072334 | CACNB2,NSUN6 | c.1658G>C (p.Arg553Thr) c.1523G>C (p.Arg508Thr) c.1646G>C (p.Arg549Thr) c.1718G>C (p.Arg573Thr) c.1802G>C (p.Arg601Thr) c.1640G>C (p.Arg547Thr) c.1427G>C (p.Arg476Thr) c.1604G>C (p.Arg535Thr) c.*943G>C (n.*943G>C) c.1544G>C (p.Arg515Thr) c.*1076G>C (n.*1076G>C) c.1359G>C (n.1359G>C) c.*1041G>C (n.*1041G>C) c.1622G>C (p.Arg541Thr) c.*902G>C (n.*902G>C) c.1730G>C (p.Arg577Thr) c.1052G>C (p.Arg351Thr) c.1637G>C (p.Arg546Thr) c.1506G>C (n.1506G>C) c.314G>C (p.Arg105Thr) c.887G>C (p.Arg296Thr) c.1565G>C (p.Arg522Thr) c.1688G>C (p.Arg563Thr) c.962G>C (p.Arg321Thr) c.1568G>C (p.Arg523Thr) n.2423+2526C>G n.1927G>C | gnomAD v4 |
| 10 | g.18539543G>T | CA376072337 | CACNB2,NSUN6 | c.1658G>T (p.Arg553Ile) c.1523G>T (p.Arg508Ile) c.1646G>T (p.Arg549Ile) c.1718G>T (p.Arg573Ile) c.1802G>T (p.Arg601Ile) c.1640G>T (p.Arg547Ile) c.1427G>T (p.Arg476Ile) c.1604G>T (p.Arg535Ile) c.*943G>T (n.*943G>T) c.1544G>T (p.Arg515Ile) c.*1076G>T (n.*1076G>T) c.1359G>T (n.1359G>T) c.*1041G>T (n.*1041G>T) c.1622G>T (p.Arg541Ile) c.*902G>T (n.*902G>T) c.1730G>T (p.Arg577Ile) c.1052G>T (p.Arg351Ile) c.1637G>T (p.Arg546Ile) c.1506G>T (n.1506G>T) c.314G>T (p.Arg105Ile) c.887G>T (p.Arg296Ile) c.1565G>T (p.Arg522Ile) c.1688G>T (p.Arg563Ile) c.962G>T (p.Arg321Ile) c.1568G>T (p.Arg523Ile) n.2423+2526C>A n.1927G>T | |
| 10 | g.18539544A= | CA1894173793 | CACNB2,NSUN6 | c.1659A= (p.Arg553=) c.1524A= (p.Arg508=) c.1647A= (p.Arg549=) c.1719A= (p.Arg573=) c.1803A= (p.Arg601=) c.1641A= (p.Arg547=) c.1428A= (p.Arg476=) c.1605A= (p.Arg535=) c.*944A= (n.*944A=) c.1545A= (p.Arg515=) c.*1077A= (n.*1077A=) c.1360A= (n.1360A=) c.*1042A= (n.*1042A=) c.1623A= (p.Arg541=) c.*903A= (n.*903A=) c.1731A= (p.Arg577=) c.1053A= (p.Arg351=) c.1638A= (p.Arg546=) c.1507A= (n.1507A=) c.315A= (p.Arg105=) c.888A= (p.Arg296=) c.1566A= (p.Arg522=) c.1689A= (p.Arg563=) c.963A= (p.Arg321=) c.1569A= (p.Arg523=) n.2423+2525T= n.1928A= | |
| 10 | g.18539544A>C | CA376072339 | CACNB2,NSUN6 | c.1659A>C (p.Arg553Ser) c.1524A>C (p.Arg508Ser) c.1647A>C (p.Arg549Ser) c.1719A>C (p.Arg573Ser) c.1803A>C (p.Arg601Ser) c.1641A>C (p.Arg547Ser) c.1428A>C (p.Arg476Ser) c.1605A>C (p.Arg535Ser) c.*944A>C (n.*944A>C) c.1545A>C (p.Arg515Ser) c.*1077A>C (n.*1077A>C) c.1360A>C (n.1360A>C) c.*1042A>C (n.*1042A>C) c.1623A>C (p.Arg541Ser) c.*903A>C (n.*903A>C) c.1731A>C (p.Arg577Ser) c.1053A>C (p.Arg351Ser) c.1638A>C (p.Arg546Ser) c.1507A>C (n.1507A>C) c.315A>C (p.Arg105Ser) c.888A>C (p.Arg296Ser) c.1566A>C (p.Arg522Ser) c.1689A>C (p.Arg563Ser) c.963A>C (p.Arg321Ser) c.1569A>C (p.Arg523Ser) n.2423+2525T>G n.1928A>C | gnomAD v4 |