Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.18539348_18539371dup | CA2786836046 | CACNB2,NSUN6 | c.1463_1486dup (p.Ser495_Gly496insAlaProHisHisAsnHisArgSer) c.1328_1351dup (p.Ser450_Gly451insAlaProHisHisAsnHisArgSer) c.1451_1474dup (p.Ser491_Gly492insAlaProHisHisAsnHisArgSer) c.1523_1546dup (p.Ser515_Gly516insAlaProHisHisAsnHisArgSer) c.1607_1630dup (p.Ser543_Gly544insAlaProHisHisAsnHisArgSer) c.1445_1468dup (p.Ser489_Gly490insAlaProHisHisAsnHisArgSer) c.1232_1255dup (p.Ser418_Gly419insAlaProHisHisAsnHisArgSer) c.1409_1432dup (p.Ser477_Gly478insAlaProHisHisAsnHisArgSer) c.*748_*771dup (n.*748_*771dup) c.1349_1372dup (p.Ser457_Gly458insAlaProHisHisAsnHisArgSer) c.*881_*904dup (n.*881_*904dup) c.1164_1187dup (n.1164_1187dup) c.*846_*869dup (n.*846_*869dup) c.1427_1450dup (p.Ser483_Gly484insAlaProHisHisAsnHisArgSer) c.*707_*730dup (n.*707_*730dup) c.1535_1558dup (p.Ser519_Gly520insAlaProHisHisAsnHisArgSer) c.857_880dup (p.Ser293_Gly294insAlaProHisHisAsnHisArgSer) c.1442_1465dup (p.Ser488_Gly489insAlaProHisHisAsnHisArgSer) c.1311_1334dup (n.1311_1334dup) c.119_142dup (p.Ser47_Gly48insAlaProHisHisAsnHisArgSer) c.692_715dup (p.Ser238_Gly239insAlaProHisHisAsnHisArgSer) c.1370_1393dup (p.Ser464_Gly465insAlaProHisHisAsnHisArgSer) c.1493_1516dup (p.Ser505_Gly506insAlaProHisHisAsnHisArgSer) c.767_790dup (p.Ser263_Gly264insAlaProHisHisAsnHisArgSer) c.1373_1396dup (p.Ser465_Gly466insAlaProHisHisAsnHisArgSer) n.2423+2699_2423+2722dup n.1732_1755dup | |
10 | g.18539348C>A | CA376071470 | CACNB2,NSUN6 | c.1463C>A (p.Ala488Asp) c.1328C>A (p.Ala443Asp) c.1451C>A (p.Ala484Asp) c.1523C>A (p.Ala508Asp) c.1607C>A (p.Ala536Asp) c.1445C>A (p.Ala482Asp) c.1232C>A (p.Ala411Asp) c.1409C>A (p.Ala470Asp) c.*748C>A (n.*748C>A) c.1349C>A (p.Ala450Asp) c.*881C>A (n.*881C>A) c.1164C>A (n.1164C>A) c.*846C>A (n.*846C>A) c.1427C>A (p.Ala476Asp) c.*707C>A (n.*707C>A) c.1535C>A (p.Ala512Asp) c.857C>A (p.Ala286Asp) c.1442C>A (p.Ala481Asp) c.1311C>A (n.1311C>A) c.119C>A (p.Ala40Asp) c.692C>A (p.Ala231Asp) c.1370C>A (p.Ala457Asp) c.1493C>A (p.Ala498Asp) c.767C>A (p.Ala256Asp) c.1373C>A (p.Ala458Asp) n.2423+2721G>T n.1732C>A | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
10 | g.18539348C= | CA1894173161 | CACNB2,NSUN6 | c.1463C= (p.Ala488=) c.1328C= (p.Ala443=) c.1451C= (p.Ala484=) c.1523C= (p.Ala508=) c.1607C= (p.Ala536=) c.1445C= (p.Ala482=) c.1232C= (p.Ala411=) c.1409C= (p.Ala470=) c.*748C= (n.*748C=) c.1349C= (p.Ala450=) c.*881C= (n.*881C=) c.1164C= (n.1164C=) c.*846C= (n.*846C=) c.1427C= (p.Ala476=) c.*707C= (n.*707C=) c.1535C= (p.Ala512=) c.857C= (p.Ala286=) c.1442C= (p.Ala481=) c.1311C= (n.1311C=) c.119C= (p.Ala40=) c.692C= (p.Ala231=) c.1370C= (p.Ala457=) c.1493C= (p.Ala498=) c.767C= (p.Ala256=) c.1373C= (p.Ala458=) n.2423+2721G= n.1732C= | |
10 | g.18539348C>G | CA376071471 | CACNB2,NSUN6 | c.1463C>G (p.Ala488Gly) c.1328C>G (p.Ala443Gly) c.1451C>G (p.Ala484Gly) c.1523C>G (p.Ala508Gly) c.1607C>G (p.Ala536Gly) c.1445C>G (p.Ala482Gly) c.1232C>G (p.Ala411Gly) c.1409C>G (p.Ala470Gly) c.*748C>G (n.*748C>G) c.1349C>G (p.Ala450Gly) c.*881C>G (n.*881C>G) c.1164C>G (n.1164C>G) c.*846C>G (n.*846C>G) c.1427C>G (p.Ala476Gly) c.*707C>G (n.*707C>G) c.1535C>G (p.Ala512Gly) c.857C>G (p.Ala286Gly) c.1442C>G (p.Ala481Gly) c.1311C>G (n.1311C>G) c.119C>G (p.Ala40Gly) c.692C>G (p.Ala231Gly) c.1370C>G (p.Ala457Gly) c.1493C>G (p.Ala498Gly) c.767C>G (p.Ala256Gly) c.1373C>G (p.Ala458Gly) n.2423+2721G>C n.1732C>G | ClinVar gnomAD v4 |
10 | g.18539348C>T | CA376071473 | CACNB2,NSUN6 | c.1463C>T (p.Ala488Val) c.1328C>T (p.Ala443Val) c.1451C>T (p.Ala484Val) c.1523C>T (p.Ala508Val) c.1607C>T (p.Ala536Val) c.1445C>T (p.Ala482Val) c.1232C>T (p.Ala411Val) c.1409C>T (p.Ala470Val) c.*748C>T (n.*748C>T) c.1349C>T (p.Ala450Val) c.*881C>T (n.*881C>T) c.1164C>T (n.1164C>T) c.*846C>T (n.*846C>T) c.1427C>T (p.Ala476Val) c.*707C>T (n.*707C>T) c.1535C>T (p.Ala512Val) c.857C>T (p.Ala286Val) c.1442C>T (p.Ala481Val) c.1311C>T (n.1311C>T) c.119C>T (p.Ala40Val) c.692C>T (p.Ala231Val) c.1370C>T (p.Ala457Val) c.1493C>T (p.Ala498Val) c.767C>T (p.Ala256Val) c.1373C>T (p.Ala458Val) n.2423+2721G>A n.1732C>T | dbSNP gnomAD v2 |
10 | g.18539349C>A | CA468627701 | CACNB2,NSUN6 | c.1464C>A (p.Ala488=) c.1329C>A (p.Ala443=) c.1452C>A (p.Ala484=) c.1524C>A (p.Ala508=) c.1608C>A (p.Ala536=) c.1446C>A (p.Ala482=) c.1233C>A (p.Ala411=) c.1410C>A (p.Ala470=) c.*749C>A (n.*749C>A) c.1350C>A (p.Ala450=) c.*882C>A (n.*882C>A) c.1165C>A (n.1165C>A) c.*847C>A (n.*847C>A) c.1428C>A (p.Ala476=) c.*708C>A (n.*708C>A) c.1536C>A (p.Ala512=) c.858C>A (p.Ala286=) c.1443C>A (p.Ala481=) c.1312C>A (n.1312C>A) c.120C>A (p.Ala40=) c.693C>A (p.Ala231=) c.1371C>A (p.Ala457=) c.1494C>A (p.Ala498=) c.768C>A (p.Ala256=) c.1374C>A (p.Ala458=) n.2423+2720G>T n.1733C>A | |
10 | g.18539349C>G | CA468627698 | CACNB2,NSUN6 | c.1464C>G (p.Ala488=) c.1329C>G (p.Ala443=) c.1452C>G (p.Ala484=) c.1524C>G (p.Ala508=) c.1608C>G (p.Ala536=) c.1446C>G (p.Ala482=) c.1233C>G (p.Ala411=) c.1410C>G (p.Ala470=) c.*749C>G (n.*749C>G) c.1350C>G (p.Ala450=) c.*882C>G (n.*882C>G) c.1165C>G (n.1165C>G) c.*847C>G (n.*847C>G) c.1428C>G (p.Ala476=) c.*708C>G (n.*708C>G) c.1536C>G (p.Ala512=) c.858C>G (p.Ala286=) c.1443C>G (p.Ala481=) c.1312C>G (n.1312C>G) c.120C>G (p.Ala40=) c.693C>G (p.Ala231=) c.1371C>G (p.Ala457=) c.1494C>G (p.Ala498=) c.768C>G (p.Ala256=) c.1374C>G (p.Ala458=) n.2423+2720G>C n.1733C>G | gnomAD v4 |
10 | g.18539349C>T | CA468627694 | CACNB2,NSUN6 | c.1464C>T (p.Ala488=) c.1329C>T (p.Ala443=) c.1452C>T (p.Ala484=) c.1524C>T (p.Ala508=) c.1608C>T (p.Ala536=) c.1446C>T (p.Ala482=) c.1233C>T (p.Ala411=) c.1410C>T (p.Ala470=) c.*749C>T (n.*749C>T) c.1350C>T (p.Ala450=) c.*882C>T (n.*882C>T) c.1165C>T (n.1165C>T) c.*847C>T (n.*847C>T) c.1428C>T (p.Ala476=) c.*708C>T (n.*708C>T) c.1536C>T (p.Ala512=) c.858C>T (p.Ala286=) c.1443C>T (p.Ala481=) c.1312C>T (n.1312C>T) c.120C>T (p.Ala40=) c.693C>T (p.Ala231=) c.1371C>T (p.Ala457=) c.1494C>T (p.Ala498=) c.768C>T (p.Ala256=) c.1374C>T (p.Ala458=) n.2423+2720G>A n.1733C>T | |
10 | g.18539350C>A | CA376071475 | CACNB2,NSUN6 | c.1465C>A (p.Pro489Thr) c.1330C>A (p.Pro444Thr) c.1453C>A (p.Pro485Thr) c.1525C>A (p.Pro509Thr) c.1609C>A (p.Pro537Thr) c.1447C>A (p.Pro483Thr) c.1234C>A (p.Pro412Thr) c.1411C>A (p.Pro471Thr) c.*750C>A (n.*750C>A) c.1351C>A (p.Pro451Thr) c.*883C>A (n.*883C>A) c.1166C>A (n.1166C>A) c.*848C>A (n.*848C>A) c.1429C>A (p.Pro477Thr) c.*709C>A (n.*709C>A) c.1537C>A (p.Pro513Thr) c.859C>A (p.Pro287Thr) c.1444C>A (p.Pro482Thr) c.1313C>A (n.1313C>A) c.121C>A (p.Pro41Thr) c.694C>A (p.Pro232Thr) c.1372C>A (p.Pro458Thr) c.1495C>A (p.Pro499Thr) c.769C>A (p.Pro257Thr) c.1375C>A (p.Pro459Thr) n.2423+2719G>T n.1734C>A | |
10 | g.18539350C= | CA1894173164 | CACNB2,NSUN6 | c.1465C= (p.Pro489=) c.1330C= (p.Pro444=) c.1453C= (p.Pro485=) c.1525C= (p.Pro509=) c.1609C= (p.Pro537=) c.1447C= (p.Pro483=) c.1234C= (p.Pro412=) c.1411C= (p.Pro471=) c.*750C= (n.*750C=) c.1351C= (p.Pro451=) c.*883C= (n.*883C=) c.1166C= (n.1166C=) c.*848C= (n.*848C=) c.1429C= (p.Pro477=) c.*709C= (n.*709C=) c.1537C= (p.Pro513=) c.859C= (p.Pro287=) c.1444C= (p.Pro482=) c.1313C= (n.1313C=) c.121C= (p.Pro41=) c.694C= (p.Pro232=) c.1372C= (p.Pro458=) c.1495C= (p.Pro499=) c.769C= (p.Pro257=) c.1375C= (p.Pro459=) n.2423+2719G= n.1734C= | |
10 | g.18539350C>G | CA376071477 | CACNB2,NSUN6 | c.1465C>G (p.Pro489Ala) c.1330C>G (p.Pro444Ala) c.1453C>G (p.Pro485Ala) c.1525C>G (p.Pro509Ala) c.1609C>G (p.Pro537Ala) c.1447C>G (p.Pro483Ala) c.1234C>G (p.Pro412Ala) c.1411C>G (p.Pro471Ala) c.*750C>G (n.*750C>G) c.1351C>G (p.Pro451Ala) c.*883C>G (n.*883C>G) c.1166C>G (n.1166C>G) c.*848C>G (n.*848C>G) c.1429C>G (p.Pro477Ala) c.*709C>G (n.*709C>G) c.1537C>G (p.Pro513Ala) c.859C>G (p.Pro287Ala) c.1444C>G (p.Pro482Ala) c.1313C>G (n.1313C>G) c.121C>G (p.Pro41Ala) c.694C>G (p.Pro232Ala) c.1372C>G (p.Pro458Ala) c.1495C>G (p.Pro499Ala) c.769C>G (p.Pro257Ala) c.1375C>G (p.Pro459Ala) n.2423+2719G>C n.1734C>G | dbSNP |
10 | g.18539350C>T | CA376071478 | CACNB2,NSUN6 | c.1465C>T (p.Pro489Ser) c.1330C>T (p.Pro444Ser) c.1453C>T (p.Pro485Ser) c.1525C>T (p.Pro509Ser) c.1609C>T (p.Pro537Ser) c.1447C>T (p.Pro483Ser) c.1234C>T (p.Pro412Ser) c.1411C>T (p.Pro471Ser) c.*750C>T (n.*750C>T) c.1351C>T (p.Pro451Ser) c.*883C>T (n.*883C>T) c.1166C>T (n.1166C>T) c.*848C>T (n.*848C>T) c.1429C>T (p.Pro477Ser) c.*709C>T (n.*709C>T) c.1537C>T (p.Pro513Ser) c.859C>T (p.Pro287Ser) c.1444C>T (p.Pro482Ser) c.1313C>T (n.1313C>T) c.121C>T (p.Pro41Ser) c.694C>T (p.Pro232Ser) c.1372C>T (p.Pro458Ser) c.1495C>T (p.Pro499Ser) c.769C>T (p.Pro257Ser) c.1375C>T (p.Pro459Ser) n.2423+2719G>A n.1734C>T | |
10 | g.18539351C>A | CA376071483 | CACNB2,NSUN6 | c.1466C>A (p.Pro489Gln) c.1331C>A (p.Pro444Gln) c.1454C>A (p.Pro485Gln) c.1526C>A (p.Pro509Gln) c.1610C>A (p.Pro537Gln) c.1448C>A (p.Pro483Gln) c.1235C>A (p.Pro412Gln) c.1412C>A (p.Pro471Gln) c.*751C>A (n.*751C>A) c.1352C>A (p.Pro451Gln) c.*884C>A (n.*884C>A) c.1167C>A (n.1167C>A) c.*849C>A (n.*849C>A) c.1430C>A (p.Pro477Gln) c.*710C>A (n.*710C>A) c.1538C>A (p.Pro513Gln) c.860C>A (p.Pro287Gln) c.1445C>A (p.Pro482Gln) c.1314C>A (n.1314C>A) c.122C>A (p.Pro41Gln) c.695C>A (p.Pro232Gln) c.1373C>A (p.Pro458Gln) c.1496C>A (p.Pro499Gln) c.770C>A (p.Pro257Gln) c.1376C>A (p.Pro459Gln) n.2423+2718G>T n.1735C>A | |
10 | g.18539351C>G | CA376071482 | CACNB2,NSUN6 | c.1466C>G (p.Pro489Arg) c.1331C>G (p.Pro444Arg) c.1454C>G (p.Pro485Arg) c.1526C>G (p.Pro509Arg) c.1610C>G (p.Pro537Arg) c.1448C>G (p.Pro483Arg) c.1235C>G (p.Pro412Arg) c.1412C>G (p.Pro471Arg) c.*751C>G (n.*751C>G) c.1352C>G (p.Pro451Arg) c.*884C>G (n.*884C>G) c.1167C>G (n.1167C>G) c.*849C>G (n.*849C>G) c.1430C>G (p.Pro477Arg) c.*710C>G (n.*710C>G) c.1538C>G (p.Pro513Arg) c.860C>G (p.Pro287Arg) c.1445C>G (p.Pro482Arg) c.1314C>G (n.1314C>G) c.122C>G (p.Pro41Arg) c.695C>G (p.Pro232Arg) c.1373C>G (p.Pro458Arg) c.1496C>G (p.Pro499Arg) c.770C>G (p.Pro257Arg) c.1376C>G (p.Pro459Arg) n.2423+2718G>C n.1735C>G | |
10 | g.18539351C>T | CA376071480 | CACNB2,NSUN6 | c.1466C>T (p.Pro489Leu) c.1331C>T (p.Pro444Leu) c.1454C>T (p.Pro485Leu) c.1526C>T (p.Pro509Leu) c.1610C>T (p.Pro537Leu) c.1448C>T (p.Pro483Leu) c.1235C>T (p.Pro412Leu) c.1412C>T (p.Pro471Leu) c.*751C>T (n.*751C>T) c.1352C>T (p.Pro451Leu) c.*884C>T (n.*884C>T) c.1167C>T (n.1167C>T) c.*849C>T (n.*849C>T) c.1430C>T (p.Pro477Leu) c.*710C>T (n.*710C>T) c.1538C>T (p.Pro513Leu) c.860C>T (p.Pro287Leu) c.1445C>T (p.Pro482Leu) c.1314C>T (n.1314C>T) c.122C>T (p.Pro41Leu) c.695C>T (p.Pro232Leu) c.1373C>T (p.Pro458Leu) c.1496C>T (p.Pro499Leu) c.770C>T (p.Pro257Leu) c.1376C>T (p.Pro459Leu) n.2423+2718G>A n.1735C>T | |
10 | g.18539352A= | CA1894173166 | CACNB2,NSUN6 | c.1467A= (p.Pro489=) c.1332A= (p.Pro444=) c.1455A= (p.Pro485=) c.1527A= (p.Pro509=) c.1611A= (p.Pro537=) c.1449A= (p.Pro483=) c.1236A= (p.Pro412=) c.1413A= (p.Pro471=) c.*752A= (n.*752A=) c.1353A= (p.Pro451=) c.*885A= (n.*885A=) c.1168A= (n.1168A=) c.*850A= (n.*850A=) c.1431A= (p.Pro477=) c.*711A= (n.*711A=) c.1539A= (p.Pro513=) c.861A= (p.Pro287=) c.1446A= (p.Pro482=) c.1315A= (n.1315A=) c.123A= (p.Pro41=) c.696A= (p.Pro232=) c.1374A= (p.Pro458=) c.1497A= (p.Pro499=) c.771A= (p.Pro257=) c.1377A= (p.Pro459=) n.2423+2717T= n.1736A= | |
10 | g.18539352A>C | CA468627734 | CACNB2,NSUN6 | c.1467A>C (p.Pro489=) c.1332A>C (p.Pro444=) c.1455A>C (p.Pro485=) c.1527A>C (p.Pro509=) c.1611A>C (p.Pro537=) c.1449A>C (p.Pro483=) c.1236A>C (p.Pro412=) c.1413A>C (p.Pro471=) c.*752A>C (n.*752A>C) c.1353A>C (p.Pro451=) c.*885A>C (n.*885A>C) c.1168A>C (n.1168A>C) c.*850A>C (n.*850A>C) c.1431A>C (p.Pro477=) c.*711A>C (n.*711A>C) c.1539A>C (p.Pro513=) c.861A>C (p.Pro287=) c.1446A>C (p.Pro482=) c.1315A>C (n.1315A>C) c.123A>C (p.Pro41=) c.696A>C (p.Pro232=) c.1374A>C (p.Pro458=) c.1497A>C (p.Pro499=) c.771A>C (p.Pro257=) c.1377A>C (p.Pro459=) n.2423+2717T>G n.1736A>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.18539352A>G | CA468627726 | CACNB2,NSUN6 | c.1467A>G (p.Pro489=) c.1332A>G (p.Pro444=) c.1455A>G (p.Pro485=) c.1527A>G (p.Pro509=) c.1611A>G (p.Pro537=) c.1449A>G (p.Pro483=) c.1236A>G (p.Pro412=) c.1413A>G (p.Pro471=) c.*752A>G (n.*752A>G) c.1353A>G (p.Pro451=) c.*885A>G (n.*885A>G) c.1168A>G (n.1168A>G) c.*850A>G (n.*850A>G) c.1431A>G (p.Pro477=) c.*711A>G (n.*711A>G) c.1539A>G (p.Pro513=) c.861A>G (p.Pro287=) c.1446A>G (p.Pro482=) c.1315A>G (n.1315A>G) c.123A>G (p.Pro41=) c.696A>G (p.Pro232=) c.1374A>G (p.Pro458=) c.1497A>G (p.Pro499=) c.771A>G (p.Pro257=) c.1377A>G (p.Pro459=) n.2423+2717T>C n.1736A>G | |
10 | g.18539352A>T | CA468627730 | CACNB2,NSUN6 | c.1467A>T (p.Pro489=) c.1332A>T (p.Pro444=) c.1455A>T (p.Pro485=) c.1527A>T (p.Pro509=) c.1611A>T (p.Pro537=) c.1449A>T (p.Pro483=) c.1236A>T (p.Pro412=) c.1413A>T (p.Pro471=) c.*752A>T (n.*752A>T) c.1353A>T (p.Pro451=) c.*885A>T (n.*885A>T) c.1168A>T (n.1168A>T) c.*850A>T (n.*850A>T) c.1431A>T (p.Pro477=) c.*711A>T (n.*711A>T) c.1539A>T (p.Pro513=) c.861A>T (p.Pro287=) c.1446A>T (p.Pro482=) c.1315A>T (n.1315A>T) c.123A>T (p.Pro41=) c.696A>T (p.Pro232=) c.1374A>T (p.Pro458=) c.1497A>T (p.Pro499=) c.771A>T (p.Pro257=) c.1377A>T (p.Pro459=) n.2423+2717T>A n.1736A>T | |
10 | g.18539352_18539355delinsACAC | CA1894173165 | CACNB2,NSUN6 | c.1467_1470delinsACAC (p.Pro489=) c.1332_1335delinsACAC (p.Pro444=) c.1455_1458delinsACAC (p.Pro485=) c.1527_1530delinsACAC (p.Pro509=) c.1611_1614delinsACAC (p.Pro537=) c.1449_1452delinsACAC (p.Pro483=) c.1236_1239delinsACAC (p.Pro412=) c.1413_1416delinsACAC (p.Pro471=) c.*752_*755delinsACAC (n.*752_*755delinsACAC) c.1353_1356delinsACAC (p.Pro451=) c.*885_*888delinsACAC (n.*885_*888delinsACAC) c.1168_1171delinsACAC (n.1168_1171delinsACAC) c.*850_*853delinsACAC (n.*850_*853delinsACAC) c.1431_1434delinsACAC (p.Pro477=) c.*711_*714delinsACAC (n.*711_*714delinsACAC) c.1539_1542delinsACAC (p.Pro513=) c.861_864delinsACAC (p.Pro287=) c.1446_1449delinsACAC (p.Pro482=) c.1315_1318delinsACAC (n.1315_1318delinsACAC) c.123_126delinsACAC (p.Pro41=) c.696_699delinsACAC (p.Pro232=) c.1374_1377delinsACAC (p.Pro458=) c.1497_1500delinsACAC (p.Pro499=) c.771_774delinsACAC (p.Pro257=) c.1377_1380delinsACAC (p.Pro459=) n.2423+2714_2423+2717delinsGTGT n.1736_1739delinsACAC | |
10 | g.18539353del | CA2608435594 | CACNB2,NSUN6 | c.1468del (p.His490ThrfsTer?) c.1333del (p.His445ThrfsTer?) c.1456del (p.His486ThrfsTer?) c.1528del (p.His510ThrfsTer?) c.1612del (p.His538ThrfsTer?) c.1450del (p.His484ThrfsTer?) c.1237del (p.His413ThrfsTer?) c.1414del (p.His472ThrfsTer?) c.*753del (n.*753del) c.1354del (p.His452ThrfsTer?) c.*886del (n.*886del) c.1169del (n.1169del) c.*851del (n.*851del) c.1432del (p.His478ThrfsTer?) c.*712del (n.*712del) c.1540del (p.His514ThrfsTer?) c.862del (p.His288ThrfsTer?) c.1447del (p.His483ThrfsTer?) c.1316del (n.1316del) c.124del (p.His42ThrfsTer?) c.697del (p.His233ThrfsTer?) c.1375del (p.His459ThrfsTer?) c.1498del (p.His500ThrfsTer?) c.772del (p.His258ThrfsTer?) c.1378del (p.His460ThrfsTer?) n.2423+2716del n.1737del | gnomAD v4 |
10 | g.18539353C>A | CA376071485 | CACNB2,NSUN6 | c.1468C>A (p.His490Asn) c.1333C>A (p.His445Asn) c.1456C>A (p.His486Asn) c.1528C>A (p.His510Asn) c.1612C>A (p.His538Asn) c.1450C>A (p.His484Asn) c.1237C>A (p.His413Asn) c.1414C>A (p.His472Asn) c.*753C>A (n.*753C>A) c.1354C>A (p.His452Asn) c.*886C>A (n.*886C>A) c.1169C>A (n.1169C>A) c.*851C>A (n.*851C>A) c.1432C>A (p.His478Asn) c.*712C>A (n.*712C>A) c.1540C>A (p.His514Asn) c.862C>A (p.His288Asn) c.1447C>A (p.His483Asn) c.1316C>A (n.1316C>A) c.124C>A (p.His42Asn) c.697C>A (p.His233Asn) c.1375C>A (p.His459Asn) c.1498C>A (p.His500Asn) c.772C>A (p.His258Asn) c.1378C>A (p.His460Asn) n.2423+2716G>T n.1737C>A | |
10 | g.18539353C= | CA1894173169 | CACNB2,NSUN6 | c.1468C= (p.His490=) c.1333C= (p.His445=) c.1456C= (p.His486=) c.1528C= (p.His510=) c.1612C= (p.His538=) c.1450C= (p.His484=) c.1237C= (p.His413=) c.1414C= (p.His472=) c.*753C= (n.*753C=) c.1354C= (p.His452=) c.*886C= (n.*886C=) c.1169C= (n.1169C=) c.*851C= (n.*851C=) c.1432C= (p.His478=) c.*712C= (n.*712C=) c.1540C= (p.His514=) c.862C= (p.His288=) c.1447C= (p.His483=) c.1316C= (n.1316C=) c.124C= (p.His42=) c.697C= (p.His233=) c.1375C= (p.His459=) c.1498C= (p.His500=) c.772C= (p.His258=) c.1378C= (p.His460=) n.2423+2716G= n.1737C= | |
10 | g.18539353C>G | CA5430108 | CACNB2,NSUN6 | c.1468C>G (p.His490Asp) c.1333C>G (p.His445Asp) c.1456C>G (p.His486Asp) c.1528C>G (p.His510Asp) c.1612C>G (p.His538Asp) c.1450C>G (p.His484Asp) c.1237C>G (p.His413Asp) c.1414C>G (p.His472Asp) c.*753C>G (n.*753C>G) c.1354C>G (p.His452Asp) c.*886C>G (n.*886C>G) c.1169C>G (n.1169C>G) c.*851C>G (n.*851C>G) c.1432C>G (p.His478Asp) c.*712C>G (n.*712C>G) c.1540C>G (p.His514Asp) c.862C>G (p.His288Asp) c.1447C>G (p.His483Asp) c.1316C>G (n.1316C>G) c.124C>G (p.His42Asp) c.697C>G (p.His233Asp) c.1375C>G (p.His459Asp) c.1498C>G (p.His500Asp) c.772C>G (p.His258Asp) c.1378C>G (p.His460Asp) n.2423+2716G>C n.1737C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539353C>T | CA376071487 | CACNB2,NSUN6 | c.1468C>T (p.His490Tyr) c.1333C>T (p.His445Tyr) c.1456C>T (p.His486Tyr) c.1528C>T (p.His510Tyr) c.1612C>T (p.His538Tyr) c.1450C>T (p.His484Tyr) c.1237C>T (p.His413Tyr) c.1414C>T (p.His472Tyr) c.*753C>T (n.*753C>T) c.1354C>T (p.His452Tyr) c.*886C>T (n.*886C>T) c.1169C>T (n.1169C>T) c.*851C>T (n.*851C>T) c.1432C>T (p.His478Tyr) c.*712C>T (n.*712C>T) c.1540C>T (p.His514Tyr) c.862C>T (p.His288Tyr) c.1447C>T (p.His483Tyr) c.1316C>T (n.1316C>T) c.124C>T (p.His42Tyr) c.697C>T (p.His233Tyr) c.1375C>T (p.His459Tyr) c.1498C>T (p.His500Tyr) c.772C>T (p.His258Tyr) c.1378C>T (p.His460Tyr) n.2423+2716G>A n.1737C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.18539356_18539358del | CA5430107 | CACNB2,NSUN6 | c.1471_1473del (p.His491del) c.1336_1338del (p.His446del) c.1459_1461del (p.His487del) c.1531_1533del (p.His511del) c.1615_1617del (p.His539del) c.1453_1455del (p.His485del) c.1240_1242del (p.His414del) c.1417_1419del (p.His473del) c.*756_*758del (n.*756_*758del) c.1357_1359del (p.His453del) c.*889_*891del (n.*889_*891del) c.1172_1174del (n.1172_1174del) c.*854_*856del (n.*854_*856del) c.1435_1437del (p.His479del) c.*715_*717del (n.*715_*717del) c.1543_1545del (p.His515del) c.865_867del (p.His289del) c.1450_1452del (p.His484del) c.1319_1321del (n.1319_1321del) c.127_129del (p.His43del) c.700_702del (p.His234del) c.1378_1380del (p.His460del) c.1501_1503del (p.His501del) c.775_777del (p.His259del) c.1381_1383del (p.His461del) n.2423+2714_2423+2716del n.1740_1742del | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.18539354A= | CA1894173179 | CACNB2,NSUN6 | c.1469A= (p.His490=) c.1334A= (p.His445=) c.1457A= (p.His486=) c.1529A= (p.His510=) c.1613A= (p.His538=) c.1451A= (p.His484=) c.1238A= (p.His413=) c.1415A= (p.His472=) c.*754A= (n.*754A=) c.1355A= (p.His452=) c.*887A= (n.*887A=) c.1170A= (n.1170A=) c.*852A= (n.*852A=) c.1433A= (p.His478=) c.*713A= (n.*713A=) c.1541A= (p.His514=) c.863A= (p.His288=) c.1448A= (p.His483=) c.1317A= (n.1317A=) c.125A= (p.His42=) c.698A= (p.His233=) c.1376A= (p.His459=) c.1499A= (p.His500=) c.773A= (p.His258=) c.1379A= (p.His460=) n.2423+2715T= n.1738A= | |
10 | g.18539354A>C | CA376071490 | CACNB2,NSUN6 | c.1469A>C (p.His490Pro) c.1334A>C (p.His445Pro) c.1457A>C (p.His486Pro) c.1529A>C (p.His510Pro) c.1613A>C (p.His538Pro) c.1451A>C (p.His484Pro) c.1238A>C (p.His413Pro) c.1415A>C (p.His472Pro) c.*754A>C (n.*754A>C) c.1355A>C (p.His452Pro) c.*887A>C (n.*887A>C) c.1170A>C (n.1170A>C) c.*852A>C (n.*852A>C) c.1433A>C (p.His478Pro) c.*713A>C (n.*713A>C) c.1541A>C (p.His514Pro) c.863A>C (p.His288Pro) c.1448A>C (p.His483Pro) c.1317A>C (n.1317A>C) c.125A>C (p.His42Pro) c.698A>C (p.His233Pro) c.1376A>C (p.His459Pro) c.1499A>C (p.His500Pro) c.773A>C (p.His258Pro) c.1379A>C (p.His460Pro) n.2423+2715T>G n.1738A>C | |
10 | g.18539354A>G | CA5430109 | CACNB2,NSUN6 | c.1469A>G (p.His490Arg) c.1334A>G (p.His445Arg) c.1457A>G (p.His486Arg) c.1529A>G (p.His510Arg) c.1613A>G (p.His538Arg) c.1451A>G (p.His484Arg) c.1238A>G (p.His413Arg) c.1415A>G (p.His472Arg) c.*754A>G (n.*754A>G) c.1355A>G (p.His452Arg) c.*887A>G (n.*887A>G) c.1170A>G (n.1170A>G) c.*852A>G (n.*852A>G) c.1433A>G (p.His478Arg) c.*713A>G (n.*713A>G) c.1541A>G (p.His514Arg) c.863A>G (p.His288Arg) c.1448A>G (p.His483Arg) c.1317A>G (n.1317A>G) c.125A>G (p.His42Arg) c.698A>G (p.His233Arg) c.1376A>G (p.His459Arg) c.1499A>G (p.His500Arg) c.773A>G (p.His258Arg) c.1379A>G (p.His460Arg) n.2423+2715T>C n.1738A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.18539354A>T | CA376071492 | CACNB2,NSUN6 | c.1469A>T (p.His490Leu) c.1334A>T (p.His445Leu) c.1457A>T (p.His486Leu) c.1529A>T (p.His510Leu) c.1613A>T (p.His538Leu) c.1451A>T (p.His484Leu) c.1238A>T (p.His413Leu) c.1415A>T (p.His472Leu) c.*754A>T (n.*754A>T) c.1355A>T (p.His452Leu) c.*887A>T (n.*887A>T) c.1170A>T (n.1170A>T) c.*852A>T (n.*852A>T) c.1433A>T (p.His478Leu) c.*713A>T (n.*713A>T) c.1541A>T (p.His514Leu) c.863A>T (p.His288Leu) c.1448A>T (p.His483Leu) c.1317A>T (n.1317A>T) c.125A>T (p.His42Leu) c.698A>T (p.His233Leu) c.1376A>T (p.His459Leu) c.1499A>T (p.His500Leu) c.773A>T (p.His258Leu) c.1379A>T (p.His460Leu) n.2423+2715T>A n.1738A>T | |
10 | g.18539354dup | CA592060474 | CACNB2,NSUN6 | c.1469dup (p.His490GlnfsTer19) c.1334dup (p.His445GlnfsTer19) c.1457dup (p.His486GlnfsTer19) c.1529dup (p.His510GlnfsTer19) c.1613dup (p.His538GlnfsTer19) c.1451dup (p.His484GlnfsTer19) c.1238dup (p.His413GlnfsTer19) c.1415dup (p.His472GlnfsTer19) c.*754dup (n.*754dup) c.1355dup (p.His452GlnfsTer19) c.*887dup (n.*887dup) c.1170dup (n.1170dup) c.*852dup (n.*852dup) c.1433dup (p.His478GlnfsTer19) c.*713dup (n.*713dup) c.1541dup (p.His514GlnfsTer19) c.863dup (p.His288GlnfsTer19) c.1448dup (p.His483GlnfsTer19) c.1317dup (n.1317dup) c.125dup (p.His42GlnfsTer19) c.698dup (p.His233GlnfsTer19) c.1376dup (p.His459GlnfsTer19) c.1499dup (p.His500GlnfsTer19) c.773dup (p.His258GlnfsTer19) c.1379dup (p.His460GlnfsTer19) n.2423+2715dup n.1738dup | dbSNP gnomAD v2 gnomAD v4 |
10 | g.18539355C>A | CA376071494 | CACNB2,NSUN6 | c.1470C>A (p.His490Gln) c.1335C>A (p.His445Gln) c.1458C>A (p.His486Gln) c.1530C>A (p.His510Gln) c.1614C>A (p.His538Gln) c.1452C>A (p.His484Gln) c.1239C>A (p.His413Gln) c.1416C>A (p.His472Gln) c.*755C>A (n.*755C>A) c.1356C>A (p.His452Gln) c.*888C>A (n.*888C>A) c.1171C>A (n.1171C>A) c.*853C>A (n.*853C>A) c.1434C>A (p.His478Gln) c.*714C>A (n.*714C>A) c.1542C>A (p.His514Gln) c.864C>A (p.His288Gln) c.1449C>A (p.His483Gln) c.1318C>A (n.1318C>A) c.126C>A (p.His42Gln) c.699C>A (p.His233Gln) c.1377C>A (p.His459Gln) c.1500C>A (p.His500Gln) c.774C>A (p.His258Gln) c.1380C>A (p.His460Gln) n.2423+2714G>T n.1739C>A | |
10 | g.18539355C>G | CA376071495 | CACNB2,NSUN6 | c.1470C>G (p.His490Gln) c.1335C>G (p.His445Gln) c.1458C>G (p.His486Gln) c.1530C>G (p.His510Gln) c.1614C>G (p.His538Gln) c.1452C>G (p.His484Gln) c.1239C>G (p.His413Gln) c.1416C>G (p.His472Gln) c.*755C>G (n.*755C>G) c.1356C>G (p.His452Gln) c.*888C>G (n.*888C>G) c.1171C>G (n.1171C>G) c.*853C>G (n.*853C>G) c.1434C>G (p.His478Gln) c.*714C>G (n.*714C>G) c.1542C>G (p.His514Gln) c.864C>G (p.His288Gln) c.1449C>G (p.His483Gln) c.1318C>G (n.1318C>G) c.126C>G (p.His42Gln) c.699C>G (p.His233Gln) c.1377C>G (p.His459Gln) c.1500C>G (p.His500Gln) c.774C>G (p.His258Gln) c.1380C>G (p.His460Gln) n.2423+2714G>C n.1739C>G | |
10 | g.18539355C>T | CA468627771 | CACNB2,NSUN6 | c.1470C>T (p.His490=) c.1335C>T (p.His445=) c.1458C>T (p.His486=) c.1530C>T (p.His510=) c.1614C>T (p.His538=) c.1452C>T (p.His484=) c.1239C>T (p.His413=) c.1416C>T (p.His472=) c.*755C>T (n.*755C>T) c.1356C>T (p.His452=) c.*888C>T (n.*888C>T) c.1171C>T (n.1171C>T) c.*853C>T (n.*853C>T) c.1434C>T (p.His478=) c.*714C>T (n.*714C>T) c.1542C>T (p.His514=) c.864C>T (p.His288=) c.1449C>T (p.His483=) c.1318C>T (n.1318C>T) c.126C>T (p.His42=) c.699C>T (p.His233=) c.1377C>T (p.His459=) c.1500C>T (p.His500=) c.774C>T (p.His258=) c.1380C>T (p.His460=) n.2423+2714G>A n.1739C>T | gnomAD v4 |
10 | g.18539356_18539365dup | CA2608435595 | CACNB2,NSUN6 | c.1471_1480dup (p.Arg494ProfsTer18) c.1336_1345dup (p.Arg449ProfsTer18) c.1459_1468dup (p.Arg490ProfsTer18) c.1531_1540dup (p.Arg514ProfsTer18) c.1615_1624dup (p.Arg542ProfsTer18) c.1453_1462dup (p.Arg488ProfsTer18) c.1240_1249dup (p.Arg417ProfsTer18) c.1417_1426dup (p.Arg476ProfsTer18) c.*756_*765dup (n.*756_*765dup) c.1357_1366dup (p.Arg456ProfsTer18) c.*889_*898dup (n.*889_*898dup) c.1172_1181dup (n.1172_1181dup) c.*854_*863dup (n.*854_*863dup) c.1435_1444dup (p.Arg482ProfsTer18) c.*715_*724dup (n.*715_*724dup) c.1543_1552dup (p.Arg518ProfsTer18) c.865_874dup (p.Arg292ProfsTer18) c.1450_1459dup (p.Arg487ProfsTer18) c.1319_1328dup (n.1319_1328dup) c.127_136dup (p.Arg46ProfsTer18) c.700_709dup (p.Arg237ProfsTer18) c.1378_1387dup (p.Arg463ProfsTer18) c.1501_1510dup (p.Arg504ProfsTer18) c.775_784dup (p.Arg262ProfsTer18) c.1381_1390dup (p.Arg464ProfsTer18) n.2423+2705_2423+2714dup n.1740_1749dup | gnomAD v4 |
10 | g.18539355_18539356insACCCAA | CA2786836047 | CACNB2,NSUN6 | c.1470_1471insACCCAA (p.His490_His491insThrGln) c.1335_1336insACCCAA (p.His445_His446insThrGln) c.1458_1459insACCCAA (p.His486_His487insThrGln) c.1530_1531insACCCAA (p.His510_His511insThrGln) c.1614_1615insACCCAA (p.His538_His539insThrGln) c.1452_1453insACCCAA (p.His484_His485insThrGln) c.1239_1240insACCCAA (p.His413_His414insThrGln) c.1416_1417insACCCAA (p.His472_His473insThrGln) c.*755_*756insACCCAA (n.*755_*756insACCCAA) c.1356_1357insACCCAA (p.His452_His453insThrGln) c.*888_*889insACCCAA (n.*888_*889insACCCAA) c.1171_1172insACCCAA (n.1171_1172insACCCAA) c.*853_*854insACCCAA (n.*853_*854insACCCAA) c.1434_1435insACCCAA (p.His478_His479insThrGln) c.*714_*715insACCCAA (n.*714_*715insACCCAA) c.1542_1543insACCCAA (p.His514_His515insThrGln) c.864_865insACCCAA (p.His288_His289insThrGln) c.1449_1450insACCCAA (p.His483_His484insThrGln) c.1318_1319insACCCAA (n.1318_1319insACCCAA) c.126_127insACCCAA (p.His42_His43insThrGln) c.699_700insACCCAA (p.His233_His234insThrGln) c.1377_1378insACCCAA (p.His459_His460insThrGln) c.1500_1501insACCCAA (p.His500_His501insThrGln) c.774_775insACCCAA (p.His258_His259insThrGln) c.1380_1381insACCCAA (p.His460_His461insThrGln) n.2423+2713_2423+2714insTTGGGT n.1739_1740insACCCAA | |
10 | g.18539356C>A | CA376071497 | CACNB2,NSUN6 | c.1471C>A (p.His491Asn) c.1336C>A (p.His446Asn) c.1459C>A (p.His487Asn) c.1531C>A (p.His511Asn) c.1615C>A (p.His539Asn) c.1453C>A (p.His485Asn) c.1240C>A (p.His414Asn) c.1417C>A (p.His473Asn) c.*756C>A (n.*756C>A) c.1357C>A (p.His453Asn) c.*889C>A (n.*889C>A) c.1172C>A (n.1172C>A) c.*854C>A (n.*854C>A) c.1435C>A (p.His479Asn) c.*715C>A (n.*715C>A) c.1543C>A (p.His515Asn) c.865C>A (p.His289Asn) c.1450C>A (p.His484Asn) c.1319C>A (n.1319C>A) c.127C>A (p.His43Asn) c.700C>A (p.His234Asn) c.1378C>A (p.His460Asn) c.1501C>A (p.His501Asn) c.775C>A (p.His259Asn) c.1381C>A (p.His461Asn) n.2423+2713G>T n.1740C>A | |
10 | g.18539356C>G | CA376071498 | CACNB2,NSUN6 | c.1471C>G (p.His491Asp) c.1336C>G (p.His446Asp) c.1459C>G (p.His487Asp) c.1531C>G (p.His511Asp) c.1615C>G (p.His539Asp) c.1453C>G (p.His485Asp) c.1240C>G (p.His414Asp) c.1417C>G (p.His473Asp) c.*756C>G (n.*756C>G) c.1357C>G (p.His453Asp) c.*889C>G (n.*889C>G) c.1172C>G (n.1172C>G) c.*854C>G (n.*854C>G) c.1435C>G (p.His479Asp) c.*715C>G (n.*715C>G) c.1543C>G (p.His515Asp) c.865C>G (p.His289Asp) c.1450C>G (p.His484Asp) c.1319C>G (n.1319C>G) c.127C>G (p.His43Asp) c.700C>G (p.His234Asp) c.1378C>G (p.His460Asp) c.1501C>G (p.His501Asp) c.775C>G (p.His259Asp) c.1381C>G (p.His461Asp) n.2423+2713G>C n.1740C>G | |
10 | g.18539356C>T | CA376071499 | CACNB2,NSUN6 | c.1471C>T (p.His491Tyr) c.1336C>T (p.His446Tyr) c.1459C>T (p.His487Tyr) c.1531C>T (p.His511Tyr) c.1615C>T (p.His539Tyr) c.1453C>T (p.His485Tyr) c.1240C>T (p.His414Tyr) c.1417C>T (p.His473Tyr) c.*756C>T (n.*756C>T) c.1357C>T (p.His453Tyr) c.*889C>T (n.*889C>T) c.1172C>T (n.1172C>T) c.*854C>T (n.*854C>T) c.1435C>T (p.His479Tyr) c.*715C>T (n.*715C>T) c.1543C>T (p.His515Tyr) c.865C>T (p.His289Tyr) c.1450C>T (p.His484Tyr) c.1319C>T (n.1319C>T) c.127C>T (p.His43Tyr) c.700C>T (p.His234Tyr) c.1378C>T (p.His460Tyr) c.1501C>T (p.His501Tyr) c.775C>T (p.His259Tyr) c.1381C>T (p.His461Tyr) n.2423+2713G>A n.1740C>T | gnomAD v4 |
10 | g.18539357A= | CA1894173186 | CACNB2,NSUN6 | c.1472A= (p.His491=) c.1337A= (p.His446=) c.1460A= (p.His487=) c.1532A= (p.His511=) c.1616A= (p.His539=) c.1454A= (p.His485=) c.1241A= (p.His414=) c.1418A= (p.His473=) c.*757A= (n.*757A=) c.1358A= (p.His453=) c.*890A= (n.*890A=) c.1173A= (n.1173A=) c.*855A= (n.*855A=) c.1436A= (p.His479=) c.*716A= (n.*716A=) c.1544A= (p.His515=) c.866A= (p.His289=) c.1451A= (p.His484=) c.1320A= (n.1320A=) c.128A= (p.His43=) c.701A= (p.His234=) c.1379A= (p.His460=) c.1502A= (p.His501=) c.776A= (p.His259=) c.1382A= (p.His461=) n.2423+2712T= n.1741A= | |
10 | g.18539357A>C | CA376071501 | CACNB2,NSUN6 | c.1472A>C (p.His491Pro) c.1337A>C (p.His446Pro) c.1460A>C (p.His487Pro) c.1532A>C (p.His511Pro) c.1616A>C (p.His539Pro) c.1454A>C (p.His485Pro) c.1241A>C (p.His414Pro) c.1418A>C (p.His473Pro) c.*757A>C (n.*757A>C) c.1358A>C (p.His453Pro) c.*890A>C (n.*890A>C) c.1173A>C (n.1173A>C) c.*855A>C (n.*855A>C) c.1436A>C (p.His479Pro) c.*716A>C (n.*716A>C) c.1544A>C (p.His515Pro) c.866A>C (p.His289Pro) c.1451A>C (p.His484Pro) c.1320A>C (n.1320A>C) c.128A>C (p.His43Pro) c.701A>C (p.His234Pro) c.1379A>C (p.His460Pro) c.1502A>C (p.His501Pro) c.776A>C (p.His259Pro) c.1382A>C (p.His461Pro) n.2423+2712T>G n.1741A>C | |
10 | g.18539357A>G | CA203167185 | CACNB2,NSUN6 | c.1472A>G (p.His491Arg) c.1337A>G (p.His446Arg) c.1460A>G (p.His487Arg) c.1532A>G (p.His511Arg) c.1616A>G (p.His539Arg) c.1454A>G (p.His485Arg) c.1241A>G (p.His414Arg) c.1418A>G (p.His473Arg) c.*757A>G (n.*757A>G) c.1358A>G (p.His453Arg) c.*890A>G (n.*890A>G) c.1173A>G (n.1173A>G) c.*855A>G (n.*855A>G) c.1436A>G (p.His479Arg) c.*716A>G (n.*716A>G) c.1544A>G (p.His515Arg) c.866A>G (p.His289Arg) c.1451A>G (p.His484Arg) c.1320A>G (n.1320A>G) c.128A>G (p.His43Arg) c.701A>G (p.His234Arg) c.1379A>G (p.His460Arg) c.1502A>G (p.His501Arg) c.776A>G (p.His259Arg) c.1382A>G (p.His461Arg) n.2423+2712T>C n.1741A>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.18539357A>T | CA376071503 | CACNB2,NSUN6 | c.1472A>T (p.His491Leu) c.1337A>T (p.His446Leu) c.1460A>T (p.His487Leu) c.1532A>T (p.His511Leu) c.1616A>T (p.His539Leu) c.1454A>T (p.His485Leu) c.1241A>T (p.His414Leu) c.1418A>T (p.His473Leu) c.*757A>T (n.*757A>T) c.1358A>T (p.His453Leu) c.*890A>T (n.*890A>T) c.1173A>T (n.1173A>T) c.*855A>T (n.*855A>T) c.1436A>T (p.His479Leu) c.*716A>T (n.*716A>T) c.1544A>T (p.His515Leu) c.866A>T (p.His289Leu) c.1451A>T (p.His484Leu) c.1320A>T (n.1320A>T) c.128A>T (p.His43Leu) c.701A>T (p.His234Leu) c.1379A>T (p.His460Leu) c.1502A>T (p.His501Leu) c.776A>T (p.His259Leu) c.1382A>T (p.His461Leu) n.2423+2712T>A n.1741A>T | |
10 | g.18539358C>A | CA376071505 | CACNB2,NSUN6 | c.1473C>A (p.His491Gln) c.1338C>A (p.His446Gln) c.1461C>A (p.His487Gln) c.1533C>A (p.His511Gln) c.1617C>A (p.His539Gln) c.1455C>A (p.His485Gln) c.1242C>A (p.His414Gln) c.1419C>A (p.His473Gln) c.*758C>A (n.*758C>A) c.1359C>A (p.His453Gln) c.*891C>A (n.*891C>A) c.1174C>A (n.1174C>A) c.*856C>A (n.*856C>A) c.1437C>A (p.His479Gln) c.*717C>A (n.*717C>A) c.1545C>A (p.His515Gln) c.867C>A (p.His289Gln) c.1452C>A (p.His484Gln) c.1321C>A (n.1321C>A) c.129C>A (p.His43Gln) c.702C>A (p.His234Gln) c.1380C>A (p.His460Gln) c.1503C>A (p.His501Gln) c.777C>A (p.His259Gln) c.1383C>A (p.His461Gln) n.2423+2711G>T n.1742C>A | |
10 | g.18539358C>G | CA376071507 | CACNB2,NSUN6 | c.1473C>G (p.His491Gln) c.1338C>G (p.His446Gln) c.1461C>G (p.His487Gln) c.1533C>G (p.His511Gln) c.1617C>G (p.His539Gln) c.1455C>G (p.His485Gln) c.1242C>G (p.His414Gln) c.1419C>G (p.His473Gln) c.*758C>G (n.*758C>G) c.1359C>G (p.His453Gln) c.*891C>G (n.*891C>G) c.1174C>G (n.1174C>G) c.*856C>G (n.*856C>G) c.1437C>G (p.His479Gln) c.*717C>G (n.*717C>G) c.1545C>G (p.His515Gln) c.867C>G (p.His289Gln) c.1452C>G (p.His484Gln) c.1321C>G (n.1321C>G) c.129C>G (p.His43Gln) c.702C>G (p.His234Gln) c.1380C>G (p.His460Gln) c.1503C>G (p.His501Gln) c.777C>G (p.His259Gln) c.1383C>G (p.His461Gln) n.2423+2711G>C n.1742C>G | |
10 | g.18539358C>T | CA468627783 | CACNB2,NSUN6 | c.1473C>T (p.His491=) c.1338C>T (p.His446=) c.1461C>T (p.His487=) c.1533C>T (p.His511=) c.1617C>T (p.His539=) c.1455C>T (p.His485=) c.1242C>T (p.His414=) c.1419C>T (p.His473=) c.*758C>T (n.*758C>T) c.1359C>T (p.His453=) c.*891C>T (n.*891C>T) c.1174C>T (n.1174C>T) c.*856C>T (n.*856C>T) c.1437C>T (p.His479=) c.*717C>T (n.*717C>T) c.1545C>T (p.His515=) c.867C>T (p.His289=) c.1452C>T (p.His484=) c.1321C>T (n.1321C>T) c.129C>T (p.His43=) c.702C>T (p.His234=) c.1380C>T (p.His460=) c.1503C>T (p.His501=) c.777C>T (p.His259=) c.1383C>T (p.His461=) n.2423+2711G>A n.1742C>T | |
10 | g.18539359A>C | CA376071508 | CACNB2,NSUN6 | c.1474A>C (p.Asn492His) c.1339A>C (p.Asn447His) c.1462A>C (p.Asn488His) c.1534A>C (p.Asn512His) c.1618A>C (p.Asn540His) c.1456A>C (p.Asn486His) c.1243A>C (p.Asn415His) c.1420A>C (p.Asn474His) c.*759A>C (n.*759A>C) c.1360A>C (p.Asn454His) c.*892A>C (n.*892A>C) c.1175A>C (n.1175A>C) c.*857A>C (n.*857A>C) c.1438A>C (p.Asn480His) c.*718A>C (n.*718A>C) c.1546A>C (p.Asn516His) c.868A>C (p.Asn290His) c.1453A>C (p.Asn485His) c.1322A>C (n.1322A>C) c.130A>C (p.Asn44His) c.703A>C (p.Asn235His) c.1381A>C (p.Asn461His) c.1504A>C (p.Asn502His) c.778A>C (p.Asn260His) c.1384A>C (p.Asn462His) n.2423+2710T>G n.1743A>C | |
10 | g.18539359A>G | CA376071509 | CACNB2,NSUN6 | c.1474A>G (p.Asn492Asp) c.1339A>G (p.Asn447Asp) c.1462A>G (p.Asn488Asp) c.1534A>G (p.Asn512Asp) c.1618A>G (p.Asn540Asp) c.1456A>G (p.Asn486Asp) c.1243A>G (p.Asn415Asp) c.1420A>G (p.Asn474Asp) c.*759A>G (n.*759A>G) c.1360A>G (p.Asn454Asp) c.*892A>G (n.*892A>G) c.1175A>G (n.1175A>G) c.*857A>G (n.*857A>G) c.1438A>G (p.Asn480Asp) c.*718A>G (n.*718A>G) c.1546A>G (p.Asn516Asp) c.868A>G (p.Asn290Asp) c.1453A>G (p.Asn485Asp) c.1322A>G (n.1322A>G) c.130A>G (p.Asn44Asp) c.703A>G (p.Asn235Asp) c.1381A>G (p.Asn461Asp) c.1504A>G (p.Asn502Asp) c.778A>G (p.Asn260Asp) c.1384A>G (p.Asn462Asp) n.2423+2710T>C n.1743A>G | |
10 | g.18539359A>T | CA376071511 | CACNB2,NSUN6 | c.1474A>T (p.Asn492Tyr) c.1339A>T (p.Asn447Tyr) c.1462A>T (p.Asn488Tyr) c.1534A>T (p.Asn512Tyr) c.1618A>T (p.Asn540Tyr) c.1456A>T (p.Asn486Tyr) c.1243A>T (p.Asn415Tyr) c.1420A>T (p.Asn474Tyr) c.*759A>T (n.*759A>T) c.1360A>T (p.Asn454Tyr) c.*892A>T (n.*892A>T) c.1175A>T (n.1175A>T) c.*857A>T (n.*857A>T) c.1438A>T (p.Asn480Tyr) c.*718A>T (n.*718A>T) c.1546A>T (p.Asn516Tyr) c.868A>T (p.Asn290Tyr) c.1453A>T (p.Asn485Tyr) c.1322A>T (n.1322A>T) c.130A>T (p.Asn44Tyr) c.703A>T (p.Asn235Tyr) c.1381A>T (p.Asn461Tyr) c.1504A>T (p.Asn502Tyr) c.778A>T (p.Asn260Tyr) c.1384A>T (p.Asn462Tyr) n.2423+2710T>A n.1743A>T | |
10 | g.18539360A>C | CA376071512 | CACNB2,NSUN6 | c.1475A>C (p.Asn492Thr) c.1340A>C (p.Asn447Thr) c.1463A>C (p.Asn488Thr) c.1535A>C (p.Asn512Thr) c.1619A>C (p.Asn540Thr) c.1457A>C (p.Asn486Thr) c.1244A>C (p.Asn415Thr) c.1421A>C (p.Asn474Thr) c.*760A>C (n.*760A>C) c.1361A>C (p.Asn454Thr) c.*893A>C (n.*893A>C) c.1176A>C (n.1176A>C) c.*858A>C (n.*858A>C) c.1439A>C (p.Asn480Thr) c.*719A>C (n.*719A>C) c.1547A>C (p.Asn516Thr) c.869A>C (p.Asn290Thr) c.1454A>C (p.Asn485Thr) c.1323A>C (n.1323A>C) c.131A>C (p.Asn44Thr) c.704A>C (p.Asn235Thr) c.1382A>C (p.Asn461Thr) c.1505A>C (p.Asn502Thr) c.779A>C (p.Asn260Thr) c.1385A>C (p.Asn462Thr) n.2423+2709T>G n.1744A>C | |
10 | g.18539360A>G | CA376071514 | CACNB2,NSUN6 | c.1475A>G (p.Asn492Ser) c.1340A>G (p.Asn447Ser) c.1463A>G (p.Asn488Ser) c.1535A>G (p.Asn512Ser) c.1619A>G (p.Asn540Ser) c.1457A>G (p.Asn486Ser) c.1244A>G (p.Asn415Ser) c.1421A>G (p.Asn474Ser) c.*760A>G (n.*760A>G) c.1361A>G (p.Asn454Ser) c.*893A>G (n.*893A>G) c.1176A>G (n.1176A>G) c.*858A>G (n.*858A>G) c.1439A>G (p.Asn480Ser) c.*719A>G (n.*719A>G) c.1547A>G (p.Asn516Ser) c.869A>G (p.Asn290Ser) c.1454A>G (p.Asn485Ser) c.1323A>G (n.1323A>G) c.131A>G (p.Asn44Ser) c.704A>G (p.Asn235Ser) c.1382A>G (p.Asn461Ser) c.1505A>G (p.Asn502Ser) c.779A>G (p.Asn260Ser) c.1385A>G (p.Asn462Ser) n.2423+2709T>C n.1744A>G | ClinVar |
10 | g.18539360A>T | CA376071515 | CACNB2,NSUN6 | c.1475A>T (p.Asn492Ile) c.1340A>T (p.Asn447Ile) c.1463A>T (p.Asn488Ile) c.1535A>T (p.Asn512Ile) c.1619A>T (p.Asn540Ile) c.1457A>T (p.Asn486Ile) c.1244A>T (p.Asn415Ile) c.1421A>T (p.Asn474Ile) c.*760A>T (n.*760A>T) c.1361A>T (p.Asn454Ile) c.*893A>T (n.*893A>T) c.1176A>T (n.1176A>T) c.*858A>T (n.*858A>T) c.1439A>T (p.Asn480Ile) c.*719A>T (n.*719A>T) c.1547A>T (p.Asn516Ile) c.869A>T (p.Asn290Ile) c.1454A>T (p.Asn485Ile) c.1323A>T (n.1323A>T) c.131A>T (p.Asn44Ile) c.704A>T (p.Asn235Ile) c.1382A>T (p.Asn461Ile) c.1505A>T (p.Asn502Ile) c.779A>T (p.Asn260Ile) c.1385A>T (p.Asn462Ile) n.2423+2709T>A n.1744A>T | |
10 | g.18539361C>A | CA376071517 | CACNB2,NSUN6 | c.1476C>A (p.Asn492Lys) c.1341C>A (p.Asn447Lys) c.1464C>A (p.Asn488Lys) c.1536C>A (p.Asn512Lys) c.1620C>A (p.Asn540Lys) c.1458C>A (p.Asn486Lys) c.1245C>A (p.Asn415Lys) c.1422C>A (p.Asn474Lys) c.*761C>A (n.*761C>A) c.1362C>A (p.Asn454Lys) c.*894C>A (n.*894C>A) c.1177C>A (n.1177C>A) c.*859C>A (n.*859C>A) c.1440C>A (p.Asn480Lys) c.*720C>A (n.*720C>A) c.1548C>A (p.Asn516Lys) c.870C>A (p.Asn290Lys) c.1455C>A (p.Asn485Lys) c.1324C>A (n.1324C>A) c.132C>A (p.Asn44Lys) c.705C>A (p.Asn235Lys) c.1383C>A (p.Asn461Lys) c.1506C>A (p.Asn502Lys) c.780C>A (p.Asn260Lys) c.1386C>A (p.Asn462Lys) n.2423+2708G>T n.1745C>A | |
10 | g.18539361C>G | CA376071518 | CACNB2,NSUN6 | c.1476C>G (p.Asn492Lys) c.1341C>G (p.Asn447Lys) c.1464C>G (p.Asn488Lys) c.1536C>G (p.Asn512Lys) c.1620C>G (p.Asn540Lys) c.1458C>G (p.Asn486Lys) c.1245C>G (p.Asn415Lys) c.1422C>G (p.Asn474Lys) c.*761C>G (n.*761C>G) c.1362C>G (p.Asn454Lys) c.*894C>G (n.*894C>G) c.1177C>G (n.1177C>G) c.*859C>G (n.*859C>G) c.1440C>G (p.Asn480Lys) c.*720C>G (n.*720C>G) c.1548C>G (p.Asn516Lys) c.870C>G (p.Asn290Lys) c.1455C>G (p.Asn485Lys) c.1324C>G (n.1324C>G) c.132C>G (p.Asn44Lys) c.705C>G (p.Asn235Lys) c.1383C>G (p.Asn461Lys) c.1506C>G (p.Asn502Lys) c.780C>G (p.Asn260Lys) c.1386C>G (p.Asn462Lys) n.2423+2708G>C n.1745C>G | |
10 | g.18539361C>T | CA468627816 | CACNB2,NSUN6 | c.1476C>T (p.Asn492=) c.1341C>T (p.Asn447=) c.1464C>T (p.Asn488=) c.1536C>T (p.Asn512=) c.1620C>T (p.Asn540=) c.1458C>T (p.Asn486=) c.1245C>T (p.Asn415=) c.1422C>T (p.Asn474=) c.*761C>T (n.*761C>T) c.1362C>T (p.Asn454=) c.*894C>T (n.*894C>T) c.1177C>T (n.1177C>T) c.*859C>T (n.*859C>T) c.1440C>T (p.Asn480=) c.*720C>T (n.*720C>T) c.1548C>T (p.Asn516=) c.870C>T (p.Asn290=) c.1455C>T (p.Asn485=) c.1324C>T (n.1324C>T) c.132C>T (p.Asn44=) c.705C>T (p.Asn235=) c.1383C>T (p.Asn461=) c.1506C>T (p.Asn502=) c.780C>T (p.Asn260=) c.1386C>T (p.Asn462=) n.2423+2708G>A n.1745C>T | COSMIC COSMIC COSMIC COSMIC COSMIC |
10 | g.18539362C>A | CA5430110 | CACNB2,NSUN6 | c.1477C>A (p.His493Asn) c.1342C>A (p.His448Asn) c.1465C>A (p.His489Asn) c.1537C>A (p.His513Asn) c.1621C>A (p.His541Asn) c.1459C>A (p.His487Asn) c.1246C>A (p.His416Asn) c.1423C>A (p.His475Asn) c.*762C>A (n.*762C>A) c.1363C>A (p.His455Asn) c.*895C>A (n.*895C>A) c.1178C>A (n.1178C>A) c.*860C>A (n.*860C>A) c.1441C>A (p.His481Asn) c.*721C>A (n.*721C>A) c.1549C>A (p.His517Asn) c.871C>A (p.His291Asn) c.1456C>A (p.His486Asn) c.1325C>A (n.1325C>A) c.133C>A (p.His45Asn) c.706C>A (p.His236Asn) c.1384C>A (p.His462Asn) c.1507C>A (p.His503Asn) c.781C>A (p.His261Asn) c.1387C>A (p.His463Asn) n.2423+2707G>T n.1746C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.18539362C= | CA1894173190 | CACNB2,NSUN6 | c.1477C= (p.His493=) c.1342C= (p.His448=) c.1465C= (p.His489=) c.1537C= (p.His513=) c.1621C= (p.His541=) c.1459C= (p.His487=) c.1246C= (p.His416=) c.1423C= (p.His475=) c.*762C= (n.*762C=) c.1363C= (p.His455=) c.*895C= (n.*895C=) c.1178C= (n.1178C=) c.*860C= (n.*860C=) c.1441C= (p.His481=) c.*721C= (n.*721C=) c.1549C= (p.His517=) c.871C= (p.His291=) c.1456C= (p.His486=) c.1325C= (n.1325C=) c.133C= (p.His45=) c.706C= (p.His236=) c.1384C= (p.His462=) c.1507C= (p.His503=) c.781C= (p.His261=) c.1387C= (p.His463=) n.2423+2707G= n.1746C= | |
10 | g.18539362C>G | CA376071520 | CACNB2,NSUN6 | c.1477C>G (p.His493Asp) c.1342C>G (p.His448Asp) c.1465C>G (p.His489Asp) c.1537C>G (p.His513Asp) c.1621C>G (p.His541Asp) c.1459C>G (p.His487Asp) c.1246C>G (p.His416Asp) c.1423C>G (p.His475Asp) c.*762C>G (n.*762C>G) c.1363C>G (p.His455Asp) c.*895C>G (n.*895C>G) c.1178C>G (n.1178C>G) c.*860C>G (n.*860C>G) c.1441C>G (p.His481Asp) c.*721C>G (n.*721C>G) c.1549C>G (p.His517Asp) c.871C>G (p.His291Asp) c.1456C>G (p.His486Asp) c.1325C>G (n.1325C>G) c.133C>G (p.His45Asp) c.706C>G (p.His236Asp) c.1384C>G (p.His462Asp) c.1507C>G (p.His503Asp) c.781C>G (p.His261Asp) c.1387C>G (p.His463Asp) n.2423+2707G>C n.1746C>G | |
10 | g.18539362C>T | CA376071522 | CACNB2,NSUN6 | c.1477C>T (p.His493Tyr) c.1342C>T (p.His448Tyr) c.1465C>T (p.His489Tyr) c.1537C>T (p.His513Tyr) c.1621C>T (p.His541Tyr) c.1459C>T (p.His487Tyr) c.1246C>T (p.His416Tyr) c.1423C>T (p.His475Tyr) c.*762C>T (n.*762C>T) c.1363C>T (p.His455Tyr) c.*895C>T (n.*895C>T) c.1178C>T (n.1178C>T) c.*860C>T (n.*860C>T) c.1441C>T (p.His481Tyr) c.*721C>T (n.*721C>T) c.1549C>T (p.His517Tyr) c.871C>T (p.His291Tyr) c.1456C>T (p.His486Tyr) c.1325C>T (n.1325C>T) c.133C>T (p.His45Tyr) c.706C>T (p.His236Tyr) c.1384C>T (p.His462Tyr) c.1507C>T (p.His503Tyr) c.781C>T (p.His261Tyr) c.1387C>T (p.His463Tyr) n.2423+2707G>A n.1746C>T | |
10 | g.18539363A>C | CA376071527 | CACNB2,NSUN6 | c.1478A>C (p.His493Pro) c.1343A>C (p.His448Pro) c.1466A>C (p.His489Pro) c.1538A>C (p.His513Pro) c.1622A>C (p.His541Pro) c.1460A>C (p.His487Pro) c.1247A>C (p.His416Pro) c.1424A>C (p.His475Pro) c.*763A>C (n.*763A>C) c.1364A>C (p.His455Pro) c.*896A>C (n.*896A>C) c.1179A>C (n.1179A>C) c.*861A>C (n.*861A>C) c.1442A>C (p.His481Pro) c.*722A>C (n.*722A>C) c.1550A>C (p.His517Pro) c.872A>C (p.His291Pro) c.1457A>C (p.His486Pro) c.1326A>C (n.1326A>C) c.134A>C (p.His45Pro) c.707A>C (p.His236Pro) c.1385A>C (p.His462Pro) c.1508A>C (p.His503Pro) c.782A>C (p.His261Pro) c.1388A>C (p.His463Pro) n.2423+2706T>G n.1747A>C | |
10 | g.18539363A>G | CA376071525 | CACNB2,NSUN6 | c.1478A>G (p.His493Arg) c.1343A>G (p.His448Arg) c.1466A>G (p.His489Arg) c.1538A>G (p.His513Arg) c.1622A>G (p.His541Arg) c.1460A>G (p.His487Arg) c.1247A>G (p.His416Arg) c.1424A>G (p.His475Arg) c.*763A>G (n.*763A>G) c.1364A>G (p.His455Arg) c.*896A>G (n.*896A>G) c.1179A>G (n.1179A>G) c.*861A>G (n.*861A>G) c.1442A>G (p.His481Arg) c.*722A>G (n.*722A>G) c.1550A>G (p.His517Arg) c.872A>G (p.His291Arg) c.1457A>G (p.His486Arg) c.1326A>G (n.1326A>G) c.134A>G (p.His45Arg) c.707A>G (p.His236Arg) c.1385A>G (p.His462Arg) c.1508A>G (p.His503Arg) c.782A>G (p.His261Arg) c.1388A>G (p.His463Arg) n.2423+2706T>C n.1747A>G | gnomAD v4 |
10 | g.18539363A>T | CA376071524 | CACNB2,NSUN6 | c.1478A>T (p.His493Leu) c.1343A>T (p.His448Leu) c.1466A>T (p.His489Leu) c.1538A>T (p.His513Leu) c.1622A>T (p.His541Leu) c.1460A>T (p.His487Leu) c.1247A>T (p.His416Leu) c.1424A>T (p.His475Leu) c.*763A>T (n.*763A>T) c.1364A>T (p.His455Leu) c.*896A>T (n.*896A>T) c.1179A>T (n.1179A>T) c.*861A>T (n.*861A>T) c.1442A>T (p.His481Leu) c.*722A>T (n.*722A>T) c.1550A>T (p.His517Leu) c.872A>T (p.His291Leu) c.1457A>T (p.His486Leu) c.1326A>T (n.1326A>T) c.134A>T (p.His45Leu) c.707A>T (p.His236Leu) c.1385A>T (p.His462Leu) c.1508A>T (p.His503Leu) c.782A>T (p.His261Leu) c.1388A>T (p.His463Leu) n.2423+2706T>A n.1747A>T | |
10 | g.18539364T>A | CA376071529 | CACNB2,NSUN6 | c.1479T>A (p.His493Gln) c.1344T>A (p.His448Gln) c.1467T>A (p.His489Gln) c.1539T>A (p.His513Gln) c.1623T>A (p.His541Gln) c.1461T>A (p.His487Gln) c.1248T>A (p.His416Gln) c.1425T>A (p.His475Gln) c.*764T>A (n.*764T>A) c.1365T>A (p.His455Gln) c.*897T>A (n.*897T>A) c.1180T>A (n.1180T>A) c.*862T>A (n.*862T>A) c.1443T>A (p.His481Gln) c.*723T>A (n.*723T>A) c.1551T>A (p.His517Gln) c.873T>A (p.His291Gln) c.1458T>A (p.His486Gln) c.1327T>A (n.1327T>A) c.135T>A (p.His45Gln) c.708T>A (p.His236Gln) c.1386T>A (p.His462Gln) c.1509T>A (p.His503Gln) c.783T>A (p.His261Gln) c.1389T>A (p.His463Gln) n.2423+2705A>T n.1748T>A | |
10 | g.18539364T>C | CA468627834 | CACNB2,NSUN6 | c.1479T>C (p.His493=) c.1344T>C (p.His448=) c.1467T>C (p.His489=) c.1539T>C (p.His513=) c.1623T>C (p.His541=) c.1461T>C (p.His487=) c.1248T>C (p.His416=) c.1425T>C (p.His475=) c.*764T>C (n.*764T>C) c.1365T>C (p.His455=) c.*897T>C (n.*897T>C) c.1180T>C (n.1180T>C) c.*862T>C (n.*862T>C) c.1443T>C (p.His481=) c.*723T>C (n.*723T>C) c.1551T>C (p.His517=) c.873T>C (p.His291=) c.1458T>C (p.His486=) c.1327T>C (n.1327T>C) c.135T>C (p.His45=) c.708T>C (p.His236=) c.1386T>C (p.His462=) c.1509T>C (p.His503=) c.783T>C (p.His261=) c.1389T>C (p.His463=) n.2423+2705A>G n.1748T>C | gnomAD v4 |
10 | g.18539364T>G | CA376071531 | CACNB2,NSUN6 | c.1479T>G (p.His493Gln) c.1344T>G (p.His448Gln) c.1467T>G (p.His489Gln) c.1539T>G (p.His513Gln) c.1623T>G (p.His541Gln) c.1461T>G (p.His487Gln) c.1248T>G (p.His416Gln) c.1425T>G (p.His475Gln) c.*764T>G (n.*764T>G) c.1365T>G (p.His455Gln) c.*897T>G (n.*897T>G) c.1180T>G (n.1180T>G) c.*862T>G (n.*862T>G) c.1443T>G (p.His481Gln) c.*723T>G (n.*723T>G) c.1551T>G (p.His517Gln) c.873T>G (p.His291Gln) c.1458T>G (p.His486Gln) c.1327T>G (n.1327T>G) c.135T>G (p.His45Gln) c.708T>G (p.His236Gln) c.1386T>G (p.His462Gln) c.1509T>G (p.His503Gln) c.783T>G (p.His261Gln) c.1389T>G (p.His463Gln) n.2423+2705A>C n.1748T>G | |
10 | g.18539365C>A | CA376071532 | CACNB2,NSUN6 | c.1480C>A (p.Arg494Ser) c.1345C>A (p.Arg449Ser) c.1468C>A (p.Arg490Ser) c.1540C>A (p.Arg514Ser) c.1624C>A (p.Arg542Ser) c.1462C>A (p.Arg488Ser) c.1249C>A (p.Arg417Ser) c.1426C>A (p.Arg476Ser) c.*765C>A (n.*765C>A) c.1366C>A (p.Arg456Ser) c.*898C>A (n.*898C>A) c.1181C>A (n.1181C>A) c.*863C>A (n.*863C>A) c.1444C>A (p.Arg482Ser) c.*724C>A (n.*724C>A) c.1552C>A (p.Arg518Ser) c.874C>A (p.Arg292Ser) c.1459C>A (p.Arg487Ser) c.1328C>A (n.1328C>A) c.136C>A (p.Arg46Ser) c.709C>A (p.Arg237Ser) c.1387C>A (p.Arg463Ser) c.1510C>A (p.Arg504Ser) c.784C>A (p.Arg262Ser) c.1390C>A (p.Arg464Ser) n.2423+2704G>T n.1749C>A | |
10 | g.18539365C= | CA1894173192 | CACNB2,NSUN6 | c.1480C= (p.Arg494=) c.1345C= (p.Arg449=) c.1468C= (p.Arg490=) c.1540C= (p.Arg514=) c.1624C= (p.Arg542=) c.1462C= (p.Arg488=) c.1249C= (p.Arg417=) c.1426C= (p.Arg476=) c.*765C= (n.*765C=) c.1366C= (p.Arg456=) c.*898C= (n.*898C=) c.1181C= (n.1181C=) c.*863C= (n.*863C=) c.1444C= (p.Arg482=) c.*724C= (n.*724C=) c.1552C= (p.Arg518=) c.874C= (p.Arg292=) c.1459C= (p.Arg487=) c.1328C= (n.1328C=) c.136C= (p.Arg46=) c.709C= (p.Arg237=) c.1387C= (p.Arg463=) c.1510C= (p.Arg504=) c.784C= (p.Arg262=) c.1390C= (p.Arg464=) n.2423+2704G= n.1749C= | |
10 | g.18539365C>G | CA5430111 | CACNB2,NSUN6 | c.1480C>G (p.Arg494Gly) c.1345C>G (p.Arg449Gly) c.1468C>G (p.Arg490Gly) c.1540C>G (p.Arg514Gly) c.1624C>G (p.Arg542Gly) c.1462C>G (p.Arg488Gly) c.1249C>G (p.Arg417Gly) c.1426C>G (p.Arg476Gly) c.*765C>G (n.*765C>G) c.1366C>G (p.Arg456Gly) c.*898C>G (n.*898C>G) c.1181C>G (n.1181C>G) c.*863C>G (n.*863C>G) c.1444C>G (p.Arg482Gly) c.*724C>G (n.*724C>G) c.1552C>G (p.Arg518Gly) c.874C>G (p.Arg292Gly) c.1459C>G (p.Arg487Gly) c.1328C>G (n.1328C>G) c.136C>G (p.Arg46Gly) c.709C>G (p.Arg237Gly) c.1387C>G (p.Arg463Gly) c.1510C>G (p.Arg504Gly) c.784C>G (p.Arg262Gly) c.1390C>G (p.Arg464Gly) n.2423+2704G>C n.1749C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.18539365C>T | CA376071535 | CACNB2,NSUN6 | c.1480C>T (p.Arg494Cys) c.1345C>T (p.Arg449Cys) c.1468C>T (p.Arg490Cys) c.1540C>T (p.Arg514Cys) c.1624C>T (p.Arg542Cys) c.1462C>T (p.Arg488Cys) c.1249C>T (p.Arg417Cys) c.1426C>T (p.Arg476Cys) c.*765C>T (n.*765C>T) c.1366C>T (p.Arg456Cys) c.*898C>T (n.*898C>T) c.1181C>T (n.1181C>T) c.*863C>T (n.*863C>T) c.1444C>T (p.Arg482Cys) c.*724C>T (n.*724C>T) c.1552C>T (p.Arg518Cys) c.874C>T (p.Arg292Cys) c.1459C>T (p.Arg487Cys) c.1328C>T (n.1328C>T) c.136C>T (p.Arg46Cys) c.709C>T (p.Arg237Cys) c.1387C>T (p.Arg463Cys) c.1510C>T (p.Arg504Cys) c.784C>T (p.Arg262Cys) c.1390C>T (p.Arg464Cys) n.2423+2704G>A n.1749C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539366G>A | CA5430112 | CACNB2,NSUN6 | c.1481G>A (p.Arg494His) c.1346G>A (p.Arg449His) c.1469G>A (p.Arg490His) c.1541G>A (p.Arg514His) c.1625G>A (p.Arg542His) c.1463G>A (p.Arg488His) c.1250G>A (p.Arg417His) c.1427G>A (p.Arg476His) c.*766G>A (n.*766G>A) c.1367G>A (p.Arg456His) c.*899G>A (n.*899G>A) c.1182G>A (n.1182G>A) c.*864G>A (n.*864G>A) c.1445G>A (p.Arg482His) c.*725G>A (n.*725G>A) c.1553G>A (p.Arg518His) c.875G>A (p.Arg292His) c.1460G>A (p.Arg487His) c.1329G>A (n.1329G>A) c.137G>A (p.Arg46His) c.710G>A (p.Arg237His) c.1388G>A (p.Arg463His) c.1511G>A (p.Arg504His) c.785G>A (p.Arg262His) c.1391G>A (p.Arg464His) n.2423+2703C>T n.1750G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.18539366G>C | CA376071537 | CACNB2,NSUN6 | c.1481G>C (p.Arg494Pro) c.1346G>C (p.Arg449Pro) c.1469G>C (p.Arg490Pro) c.1541G>C (p.Arg514Pro) c.1625G>C (p.Arg542Pro) c.1463G>C (p.Arg488Pro) c.1250G>C (p.Arg417Pro) c.1427G>C (p.Arg476Pro) c.*766G>C (n.*766G>C) c.1367G>C (p.Arg456Pro) c.*899G>C (n.*899G>C) c.1182G>C (n.1182G>C) c.*864G>C (n.*864G>C) c.1445G>C (p.Arg482Pro) c.*725G>C (n.*725G>C) c.1553G>C (p.Arg518Pro) c.875G>C (p.Arg292Pro) c.1460G>C (p.Arg487Pro) c.1329G>C (n.1329G>C) c.137G>C (p.Arg46Pro) c.710G>C (p.Arg237Pro) c.1388G>C (p.Arg463Pro) c.1511G>C (p.Arg504Pro) c.785G>C (p.Arg262Pro) c.1391G>C (p.Arg464Pro) n.2423+2703C>G n.1750G>C | |
10 | g.18539366G= | CA1894173203 | CACNB2,NSUN6 | c.1481G= (p.Arg494=) c.1346G= (p.Arg449=) c.1469G= (p.Arg490=) c.1541G= (p.Arg514=) c.1625G= (p.Arg542=) c.1463G= (p.Arg488=) c.1250G= (p.Arg417=) c.1427G= (p.Arg476=) c.*766G= (n.*766G=) c.1367G= (p.Arg456=) c.*899G= (n.*899G=) c.1182G= (n.1182G=) c.*864G= (n.*864G=) c.1445G= (p.Arg482=) c.*725G= (n.*725G=) c.1553G= (p.Arg518=) c.875G= (p.Arg292=) c.1460G= (p.Arg487=) c.1329G= (n.1329G=) c.137G= (p.Arg46=) c.710G= (p.Arg237=) c.1388G= (p.Arg463=) c.1511G= (p.Arg504=) c.785G= (p.Arg262=) c.1391G= (p.Arg464=) n.2423+2703C= n.1750G= | |
10 | g.18539366G>T | CA376071538 | CACNB2,NSUN6 | c.1481G>T (p.Arg494Leu) c.1346G>T (p.Arg449Leu) c.1469G>T (p.Arg490Leu) c.1541G>T (p.Arg514Leu) c.1625G>T (p.Arg542Leu) c.1463G>T (p.Arg488Leu) c.1250G>T (p.Arg417Leu) c.1427G>T (p.Arg476Leu) c.*766G>T (n.*766G>T) c.1367G>T (p.Arg456Leu) c.*899G>T (n.*899G>T) c.1182G>T (n.1182G>T) c.*864G>T (n.*864G>T) c.1445G>T (p.Arg482Leu) c.*725G>T (n.*725G>T) c.1553G>T (p.Arg518Leu) c.875G>T (p.Arg292Leu) c.1460G>T (p.Arg487Leu) c.1329G>T (n.1329G>T) c.137G>T (p.Arg46Leu) c.710G>T (p.Arg237Leu) c.1388G>T (p.Arg463Leu) c.1511G>T (p.Arg504Leu) c.785G>T (p.Arg262Leu) c.1391G>T (p.Arg464Leu) n.2423+2703C>A n.1750G>T | |
10 | g.18539367C>A | CA468627847 | CACNB2,NSUN6 | c.1482C>A (p.Arg494=) c.1347C>A (p.Arg449=) c.1470C>A (p.Arg490=) c.1542C>A (p.Arg514=) c.1626C>A (p.Arg542=) c.1464C>A (p.Arg488=) c.1251C>A (p.Arg417=) c.1428C>A (p.Arg476=) c.*767C>A (n.*767C>A) c.1368C>A (p.Arg456=) c.*900C>A (n.*900C>A) c.1183C>A (n.1183C>A) c.*865C>A (n.*865C>A) c.1446C>A (p.Arg482=) c.*726C>A (n.*726C>A) c.1554C>A (p.Arg518=) c.876C>A (p.Arg292=) c.1461C>A (p.Arg487=) c.1330C>A (n.1330C>A) c.138C>A (p.Arg46=) c.711C>A (p.Arg237=) c.1389C>A (p.Arg463=) c.1512C>A (p.Arg504=) c.786C>A (p.Arg262=) c.1392C>A (p.Arg464=) n.2423+2702G>T n.1751C>A | |
10 | g.18539367C>G | CA468627853 | CACNB2,NSUN6 | c.1482C>G (p.Arg494=) c.1347C>G (p.Arg449=) c.1470C>G (p.Arg490=) c.1542C>G (p.Arg514=) c.1626C>G (p.Arg542=) c.1464C>G (p.Arg488=) c.1251C>G (p.Arg417=) c.1428C>G (p.Arg476=) c.*767C>G (n.*767C>G) c.1368C>G (p.Arg456=) c.*900C>G (n.*900C>G) c.1183C>G (n.1183C>G) c.*865C>G (n.*865C>G) c.1446C>G (p.Arg482=) c.*726C>G (n.*726C>G) c.1554C>G (p.Arg518=) c.876C>G (p.Arg292=) c.1461C>G (p.Arg487=) c.1330C>G (n.1330C>G) c.138C>G (p.Arg46=) c.711C>G (p.Arg237=) c.1389C>G (p.Arg463=) c.1512C>G (p.Arg504=) c.786C>G (p.Arg262=) c.1392C>G (p.Arg464=) n.2423+2702G>C n.1751C>G | |
10 | g.18539367C>T | CA468627850 | CACNB2,NSUN6 | c.1482C>T (p.Arg494=) c.1347C>T (p.Arg449=) c.1470C>T (p.Arg490=) c.1542C>T (p.Arg514=) c.1626C>T (p.Arg542=) c.1464C>T (p.Arg488=) c.1251C>T (p.Arg417=) c.1428C>T (p.Arg476=) c.*767C>T (n.*767C>T) c.1368C>T (p.Arg456=) c.*900C>T (n.*900C>T) c.1183C>T (n.1183C>T) c.*865C>T (n.*865C>T) c.1446C>T (p.Arg482=) c.*726C>T (n.*726C>T) c.1554C>T (p.Arg518=) c.876C>T (p.Arg292=) c.1461C>T (p.Arg487=) c.1330C>T (n.1330C>T) c.138C>T (p.Arg46=) c.711C>T (p.Arg237=) c.1389C>T (p.Arg463=) c.1512C>T (p.Arg504=) c.786C>T (p.Arg262=) c.1392C>T (p.Arg464=) n.2423+2702G>A n.1751C>T | gnomAD v4 |
10 | g.18539368A= | CA1894173211 | CACNB2,NSUN6 | c.1483A= (p.Ser495=) c.1348A= (p.Ser450=) c.1471A= (p.Ser491=) c.1543A= (p.Ser515=) c.1627A= (p.Ser543=) c.1465A= (p.Ser489=) c.1252A= (p.Ser418=) c.1429A= (p.Ser477=) c.*768A= (n.*768A=) c.1369A= (p.Ser457=) c.*901A= (n.*901A=) c.1184A= (n.1184A=) c.*866A= (n.*866A=) c.1447A= (p.Ser483=) c.*727A= (n.*727A=) c.1555A= (p.Ser519=) c.877A= (p.Ser293=) c.1462A= (p.Ser488=) c.1331A= (n.1331A=) c.139A= (p.Ser47=) c.712A= (p.Ser238=) c.1390A= (p.Ser464=) c.1513A= (p.Ser505=) c.787A= (p.Ser263=) c.1393A= (p.Ser465=) n.2423+2701T= n.1752A= | |
10 | g.18539368A>C | CA376071540 | CACNB2,NSUN6 | c.1483A>C (p.Ser495Arg) c.1348A>C (p.Ser450Arg) c.1471A>C (p.Ser491Arg) c.1543A>C (p.Ser515Arg) c.1627A>C (p.Ser543Arg) c.1465A>C (p.Ser489Arg) c.1252A>C (p.Ser418Arg) c.1429A>C (p.Ser477Arg) c.*768A>C (n.*768A>C) c.1369A>C (p.Ser457Arg) c.*901A>C (n.*901A>C) c.1184A>C (n.1184A>C) c.*866A>C (n.*866A>C) c.1447A>C (p.Ser483Arg) c.*727A>C (n.*727A>C) c.1555A>C (p.Ser519Arg) c.877A>C (p.Ser293Arg) c.1462A>C (p.Ser488Arg) c.1331A>C (n.1331A>C) c.139A>C (p.Ser47Arg) c.712A>C (p.Ser238Arg) c.1390A>C (p.Ser464Arg) c.1513A>C (p.Ser505Arg) c.787A>C (p.Ser263Arg) c.1393A>C (p.Ser465Arg) n.2423+2701T>G n.1752A>C | |
10 | g.18539368A>G | CA376071542 | CACNB2,NSUN6 | c.1483A>G (p.Ser495Gly) c.1348A>G (p.Ser450Gly) c.1471A>G (p.Ser491Gly) c.1543A>G (p.Ser515Gly) c.1627A>G (p.Ser543Gly) c.1465A>G (p.Ser489Gly) c.1252A>G (p.Ser418Gly) c.1429A>G (p.Ser477Gly) c.*768A>G (n.*768A>G) c.1369A>G (p.Ser457Gly) c.*901A>G (n.*901A>G) c.1184A>G (n.1184A>G) c.*866A>G (n.*866A>G) c.1447A>G (p.Ser483Gly) c.*727A>G (n.*727A>G) c.1555A>G (p.Ser519Gly) c.877A>G (p.Ser293Gly) c.1462A>G (p.Ser488Gly) c.1331A>G (n.1331A>G) c.139A>G (p.Ser47Gly) c.712A>G (p.Ser238Gly) c.1390A>G (p.Ser464Gly) c.1513A>G (p.Ser505Gly) c.787A>G (p.Ser263Gly) c.1393A>G (p.Ser465Gly) n.2423+2701T>C n.1752A>G | |
10 | g.18539368A>T | CA376071544 | CACNB2,NSUN6 | c.1483A>T (p.Ser495Cys) c.1348A>T (p.Ser450Cys) c.1471A>T (p.Ser491Cys) c.1543A>T (p.Ser515Cys) c.1627A>T (p.Ser543Cys) c.1465A>T (p.Ser489Cys) c.1252A>T (p.Ser418Cys) c.1429A>T (p.Ser477Cys) c.*768A>T (n.*768A>T) c.1369A>T (p.Ser457Cys) c.*901A>T (n.*901A>T) c.1184A>T (n.1184A>T) c.*866A>T (n.*866A>T) c.1447A>T (p.Ser483Cys) c.*727A>T (n.*727A>T) c.1555A>T (p.Ser519Cys) c.877A>T (p.Ser293Cys) c.1462A>T (p.Ser488Cys) c.1331A>T (n.1331A>T) c.139A>T (p.Ser47Cys) c.712A>T (p.Ser238Cys) c.1390A>T (p.Ser464Cys) c.1513A>T (p.Ser505Cys) c.787A>T (p.Ser263Cys) c.1393A>T (p.Ser465Cys) n.2423+2701T>A n.1752A>T | |
10 | g.18539369G>A | CA376071549 | CACNB2,NSUN6 | c.1484G>A (p.Ser495Asn) c.1349G>A (p.Ser450Asn) c.1472G>A (p.Ser491Asn) c.1544G>A (p.Ser515Asn) c.1628G>A (p.Ser543Asn) c.1466G>A (p.Ser489Asn) c.1253G>A (p.Ser418Asn) c.1430G>A (p.Ser477Asn) c.*769G>A (n.*769G>A) c.1370G>A (p.Ser457Asn) c.*902G>A (n.*902G>A) c.1185G>A (n.1185G>A) c.*867G>A (n.*867G>A) c.1448G>A (p.Ser483Asn) c.*728G>A (n.*728G>A) c.1556G>A (p.Ser519Asn) c.878G>A (p.Ser293Asn) c.1463G>A (p.Ser488Asn) c.1332G>A (n.1332G>A) c.140G>A (p.Ser47Asn) c.713G>A (p.Ser238Asn) c.1391G>A (p.Ser464Asn) c.1514G>A (p.Ser505Asn) c.788G>A (p.Ser263Asn) c.1394G>A (p.Ser465Asn) n.2423+2700C>T n.1753G>A | dbSNP gnomAD v4 |
10 | g.18539369G>C | CA376071547 | CACNB2,NSUN6 | c.1484G>C (p.Ser495Thr) c.1349G>C (p.Ser450Thr) c.1472G>C (p.Ser491Thr) c.1544G>C (p.Ser515Thr) c.1628G>C (p.Ser543Thr) c.1466G>C (p.Ser489Thr) c.1253G>C (p.Ser418Thr) c.1430G>C (p.Ser477Thr) c.*769G>C (n.*769G>C) c.1370G>C (p.Ser457Thr) c.*902G>C (n.*902G>C) c.1185G>C (n.1185G>C) c.*867G>C (n.*867G>C) c.1448G>C (p.Ser483Thr) c.*728G>C (n.*728G>C) c.1556G>C (p.Ser519Thr) c.878G>C (p.Ser293Thr) c.1463G>C (p.Ser488Thr) c.1332G>C (n.1332G>C) c.140G>C (p.Ser47Thr) c.713G>C (p.Ser238Thr) c.1391G>C (p.Ser464Thr) c.1514G>C (p.Ser505Thr) c.788G>C (p.Ser263Thr) c.1394G>C (p.Ser465Thr) n.2423+2700C>G n.1753G>C | dbSNP |
10 | g.18539369G= | CA1894173219 | CACNB2,NSUN6 | c.1484G= (p.Ser495=) c.1349G= (p.Ser450=) c.1472G= (p.Ser491=) c.1544G= (p.Ser515=) c.1628G= (p.Ser543=) c.1466G= (p.Ser489=) c.1253G= (p.Ser418=) c.1430G= (p.Ser477=) c.*769G= (n.*769G=) c.1370G= (p.Ser457=) c.*902G= (n.*902G=) c.1185G= (n.1185G=) c.*867G= (n.*867G=) c.1448G= (p.Ser483=) c.*728G= (n.*728G=) c.1556G= (p.Ser519=) c.878G= (p.Ser293=) c.1463G= (p.Ser488=) c.1332G= (n.1332G=) c.140G= (p.Ser47=) c.713G= (p.Ser238=) c.1391G= (p.Ser464=) c.1514G= (p.Ser505=) c.788G= (p.Ser263=) c.1394G= (p.Ser465=) n.2423+2700C= n.1753G= | |
10 | g.18539369G>T | CA376071545 | CACNB2,NSUN6 | c.1484G>T (p.Ser495Ile) c.1349G>T (p.Ser450Ile) c.1472G>T (p.Ser491Ile) c.1544G>T (p.Ser515Ile) c.1628G>T (p.Ser543Ile) c.1466G>T (p.Ser489Ile) c.1253G>T (p.Ser418Ile) c.1430G>T (p.Ser477Ile) c.*769G>T (n.*769G>T) c.1370G>T (p.Ser457Ile) c.*902G>T (n.*902G>T) c.1185G>T (n.1185G>T) c.*867G>T (n.*867G>T) c.1448G>T (p.Ser483Ile) c.*728G>T (n.*728G>T) c.1556G>T (p.Ser519Ile) c.878G>T (p.Ser293Ile) c.1463G>T (p.Ser488Ile) c.1332G>T (n.1332G>T) c.140G>T (p.Ser47Ile) c.713G>T (p.Ser238Ile) c.1391G>T (p.Ser464Ile) c.1514G>T (p.Ser505Ile) c.788G>T (p.Ser263Ile) c.1394G>T (p.Ser465Ile) n.2423+2700C>A n.1753G>T | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
10 | g.18539370_18539373dup | CA1894173217 | CACNB2,NSUN6 | c.1485_1488dup (p.Thr497TrpfsTer13) c.1350_1353dup (p.Thr452TrpfsTer13) c.1473_1476dup (p.Thr493TrpfsTer13) c.1545_1548dup (p.Thr517TrpfsTer13) c.1629_1632dup (p.Thr545TrpfsTer13) c.1467_1470dup (p.Thr491TrpfsTer13) c.1254_1257dup (p.Thr420TrpfsTer13) c.1431_1434dup (p.Thr479TrpfsTer13) c.*770_*773dup (n.*770_*773dup) c.1371_1374dup (p.Thr459TrpfsTer13) c.*903_*906dup (n.*903_*906dup) c.1186_1189dup (n.1186_1189dup) c.*868_*871dup (n.*868_*871dup) c.1449_1452dup (p.Thr485TrpfsTer13) c.*729_*732dup (n.*729_*732dup) c.1557_1560dup (p.Thr521TrpfsTer13) c.879_882dup (p.Thr295TrpfsTer13) c.1464_1467dup (p.Thr490TrpfsTer13) c.1333_1336dup (n.1333_1336dup) c.141_144dup (p.Thr49TrpfsTer13) c.714_717dup (p.Thr240TrpfsTer13) c.1392_1395dup (p.Thr466TrpfsTer13) c.1515_1518dup (p.Thr507TrpfsTer13) c.789_792dup (p.Thr265TrpfsTer13) c.1395_1398dup (p.Thr467TrpfsTer13) n.2423+2697_2423+2700dup n.1754_1757dup | dbSNP gnomAD v4 |
10 | g.18539370T>A | CA376071550 | CACNB2,NSUN6 | c.1485T>A (p.Ser495Arg) c.1350T>A (p.Ser450Arg) c.1473T>A (p.Ser491Arg) c.1545T>A (p.Ser515Arg) c.1629T>A (p.Ser543Arg) c.1467T>A (p.Ser489Arg) c.1254T>A (p.Ser418Arg) c.1431T>A (p.Ser477Arg) c.*770T>A (n.*770T>A) c.1371T>A (p.Ser457Arg) c.*903T>A (n.*903T>A) c.1186T>A (n.1186T>A) c.*868T>A (n.*868T>A) c.1449T>A (p.Ser483Arg) c.*729T>A (n.*729T>A) c.1557T>A (p.Ser519Arg) c.879T>A (p.Ser293Arg) c.1464T>A (p.Ser488Arg) c.1333T>A (n.1333T>A) c.141T>A (p.Ser47Arg) c.714T>A (p.Ser238Arg) c.1392T>A (p.Ser464Arg) c.1515T>A (p.Ser505Arg) c.789T>A (p.Ser263Arg) c.1395T>A (p.Ser465Arg) n.2423+2699A>T n.1754T>A | |
10 | g.18539370T>C | CA468627881 | CACNB2,NSUN6 | c.1485T>C (p.Ser495=) c.1350T>C (p.Ser450=) c.1473T>C (p.Ser491=) c.1545T>C (p.Ser515=) c.1629T>C (p.Ser543=) c.1467T>C (p.Ser489=) c.1254T>C (p.Ser418=) c.1431T>C (p.Ser477=) c.*770T>C (n.*770T>C) c.1371T>C (p.Ser457=) c.*903T>C (n.*903T>C) c.1186T>C (n.1186T>C) c.*868T>C (n.*868T>C) c.1449T>C (p.Ser483=) c.*729T>C (n.*729T>C) c.1557T>C (p.Ser519=) c.879T>C (p.Ser293=) c.1464T>C (p.Ser488=) c.1333T>C (n.1333T>C) c.141T>C (p.Ser47=) c.714T>C (p.Ser238=) c.1392T>C (p.Ser464=) c.1515T>C (p.Ser505=) c.789T>C (p.Ser263=) c.1395T>C (p.Ser465=) n.2423+2699A>G n.1754T>C | |
10 | g.18539370T>G | CA376071552 | CACNB2,NSUN6 | c.1485T>G (p.Ser495Arg) c.1350T>G (p.Ser450Arg) c.1473T>G (p.Ser491Arg) c.1545T>G (p.Ser515Arg) c.1629T>G (p.Ser543Arg) c.1467T>G (p.Ser489Arg) c.1254T>G (p.Ser418Arg) c.1431T>G (p.Ser477Arg) c.*770T>G (n.*770T>G) c.1371T>G (p.Ser457Arg) c.*903T>G (n.*903T>G) c.1186T>G (n.1186T>G) c.*868T>G (n.*868T>G) c.1449T>G (p.Ser483Arg) c.*729T>G (n.*729T>G) c.1557T>G (p.Ser519Arg) c.879T>G (p.Ser293Arg) c.1464T>G (p.Ser488Arg) c.1333T>G (n.1333T>G) c.141T>G (p.Ser47Arg) c.714T>G (p.Ser238Arg) c.1392T>G (p.Ser464Arg) c.1515T>G (p.Ser505Arg) c.789T>G (p.Ser263Arg) c.1395T>G (p.Ser465Arg) n.2423+2699A>C n.1754T>G | |
10 | g.18539371G>A | CA376071554 | CACNB2,NSUN6 | c.1486G>A (p.Gly496Arg) c.1351G>A (p.Gly451Arg) c.1474G>A (p.Gly492Arg) c.1546G>A (p.Gly516Arg) c.1630G>A (p.Gly544Arg) c.1468G>A (p.Gly490Arg) c.1255G>A (p.Gly419Arg) c.1432G>A (p.Gly478Arg) c.*771G>A (n.*771G>A) c.1372G>A (p.Gly458Arg) c.*904G>A (n.*904G>A) c.1187G>A (n.1187G>A) c.*869G>A (n.*869G>A) c.1450G>A (p.Gly484Arg) c.*730G>A (n.*730G>A) c.1558G>A (p.Gly520Arg) c.880G>A (p.Gly294Arg) c.1465G>A (p.Gly489Arg) c.1334G>A (n.1334G>A) c.142G>A (p.Gly48Arg) c.715G>A (p.Gly239Arg) c.1393G>A (p.Gly465Arg) c.1516G>A (p.Gly506Arg) c.790G>A (p.Gly264Arg) c.1396G>A (p.Gly466Arg) n.2423+2698C>T n.1755G>A | ClinVar dbSNP gnomAD v4 |
10 | g.18539371G>C | CA376071556 | CACNB2,NSUN6 | c.1486G>C (p.Gly496Arg) c.1351G>C (p.Gly451Arg) c.1474G>C (p.Gly492Arg) c.1546G>C (p.Gly516Arg) c.1630G>C (p.Gly544Arg) c.1468G>C (p.Gly490Arg) c.1255G>C (p.Gly419Arg) c.1432G>C (p.Gly478Arg) c.*771G>C (n.*771G>C) c.1372G>C (p.Gly458Arg) c.*904G>C (n.*904G>C) c.1187G>C (n.1187G>C) c.*869G>C (n.*869G>C) c.1450G>C (p.Gly484Arg) c.*730G>C (n.*730G>C) c.1558G>C (p.Gly520Arg) c.880G>C (p.Gly294Arg) c.1465G>C (p.Gly489Arg) c.1334G>C (n.1334G>C) c.142G>C (p.Gly48Arg) c.715G>C (p.Gly239Arg) c.1393G>C (p.Gly465Arg) c.1516G>C (p.Gly506Arg) c.790G>C (p.Gly264Arg) c.1396G>C (p.Gly466Arg) n.2423+2698C>G n.1755G>C | dbSNP |
10 | g.18539371G= | CA1894173231 | CACNB2,NSUN6 | c.1486G= (p.Gly496=) c.1351G= (p.Gly451=) c.1474G= (p.Gly492=) c.1546G= (p.Gly516=) c.1630G= (p.Gly544=) c.1468G= (p.Gly490=) c.1255G= (p.Gly419=) c.1432G= (p.Gly478=) c.*771G= (n.*771G=) c.1372G= (p.Gly458=) c.*904G= (n.*904G=) c.1187G= (n.1187G=) c.*869G= (n.*869G=) c.1450G= (p.Gly484=) c.*730G= (n.*730G=) c.1558G= (p.Gly520=) c.880G= (p.Gly294=) c.1465G= (p.Gly489=) c.1334G= (n.1334G=) c.142G= (p.Gly48=) c.715G= (p.Gly239=) c.1393G= (p.Gly465=) c.1516G= (p.Gly506=) c.790G= (p.Gly264=) c.1396G= (p.Gly466=) n.2423+2698C= n.1755G= | |
10 | g.18539371G>T | CA376071557 | CACNB2,NSUN6 | c.1486G>T (p.Gly496Trp) c.1351G>T (p.Gly451Trp) c.1474G>T (p.Gly492Trp) c.1546G>T (p.Gly516Trp) c.1630G>T (p.Gly544Trp) c.1468G>T (p.Gly490Trp) c.1255G>T (p.Gly419Trp) c.1432G>T (p.Gly478Trp) c.*771G>T (n.*771G>T) c.1372G>T (p.Gly458Trp) c.*904G>T (n.*904G>T) c.1187G>T (n.1187G>T) c.*869G>T (n.*869G>T) c.1450G>T (p.Gly484Trp) c.*730G>T (n.*730G>T) c.1558G>T (p.Gly520Trp) c.880G>T (p.Gly294Trp) c.1465G>T (p.Gly489Trp) c.1334G>T (n.1334G>T) c.142G>T (p.Gly48Trp) c.715G>T (p.Gly239Trp) c.1393G>T (p.Gly465Trp) c.1516G>T (p.Gly506Trp) c.790G>T (p.Gly264Trp) c.1396G>T (p.Gly466Trp) n.2423+2698C>A n.1755G>T | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
10 | g.18539372G>A | CA376071559 | CACNB2,NSUN6 | c.1487G>A (p.Gly496Glu) c.1352G>A (p.Gly451Glu) c.1475G>A (p.Gly492Glu) c.1547G>A (p.Gly516Glu) c.1631G>A (p.Gly544Glu) c.1469G>A (p.Gly490Glu) c.1256G>A (p.Gly419Glu) c.1433G>A (p.Gly478Glu) c.*772G>A (n.*772G>A) c.1373G>A (p.Gly458Glu) c.*905G>A (n.*905G>A) c.1188G>A (n.1188G>A) c.*870G>A (n.*870G>A) c.1451G>A (p.Gly484Glu) c.*731G>A (n.*731G>A) c.1559G>A (p.Gly520Glu) c.881G>A (p.Gly294Glu) c.1466G>A (p.Gly489Glu) c.1335G>A (n.1335G>A) c.143G>A (p.Gly48Glu) c.716G>A (p.Gly239Glu) c.1394G>A (p.Gly465Glu) c.1517G>A (p.Gly506Glu) c.791G>A (p.Gly264Glu) c.1397G>A (p.Gly466Glu) n.2423+2697C>T n.1756G>A | |
10 | g.18539372G>C | CA376071561 | CACNB2,NSUN6 | c.1487G>C (p.Gly496Ala) c.1352G>C (p.Gly451Ala) c.1475G>C (p.Gly492Ala) c.1547G>C (p.Gly516Ala) c.1631G>C (p.Gly544Ala) c.1469G>C (p.Gly490Ala) c.1256G>C (p.Gly419Ala) c.1433G>C (p.Gly478Ala) c.*772G>C (n.*772G>C) c.1373G>C (p.Gly458Ala) c.*905G>C (n.*905G>C) c.1188G>C (n.1188G>C) c.*870G>C (n.*870G>C) c.1451G>C (p.Gly484Ala) c.*731G>C (n.*731G>C) c.1559G>C (p.Gly520Ala) c.881G>C (p.Gly294Ala) c.1466G>C (p.Gly489Ala) c.1335G>C (n.1335G>C) c.143G>C (p.Gly48Ala) c.716G>C (p.Gly239Ala) c.1394G>C (p.Gly465Ala) c.1517G>C (p.Gly506Ala) c.791G>C (p.Gly264Ala) c.1397G>C (p.Gly466Ala) n.2423+2697C>G n.1756G>C | |
10 | g.18539372G>T | CA376071563 | CACNB2,NSUN6 | c.1487G>T (p.Gly496Val) c.1352G>T (p.Gly451Val) c.1475G>T (p.Gly492Val) c.1547G>T (p.Gly516Val) c.1631G>T (p.Gly544Val) c.1469G>T (p.Gly490Val) c.1256G>T (p.Gly419Val) c.1433G>T (p.Gly478Val) c.*772G>T (n.*772G>T) c.1373G>T (p.Gly458Val) c.*905G>T (n.*905G>T) c.1188G>T (n.1188G>T) c.*870G>T (n.*870G>T) c.1451G>T (p.Gly484Val) c.*731G>T (n.*731G>T) c.1559G>T (p.Gly520Val) c.881G>T (p.Gly294Val) c.1466G>T (p.Gly489Val) c.1335G>T (n.1335G>T) c.143G>T (p.Gly48Val) c.716G>T (p.Gly239Val) c.1394G>T (p.Gly465Val) c.1517G>T (p.Gly506Val) c.791G>T (p.Gly264Val) c.1397G>T (p.Gly466Val) n.2423+2697C>A n.1756G>T | |
10 | g.18539373G>A | CA468627898 | CACNB2,NSUN6 | c.1488G>A (p.Gly496=) c.1353G>A (p.Gly451=) c.1476G>A (p.Gly492=) c.1548G>A (p.Gly516=) c.1632G>A (p.Gly544=) c.1470G>A (p.Gly490=) c.1257G>A (p.Gly419=) c.1434G>A (p.Gly478=) c.*773G>A (n.*773G>A) c.1374G>A (p.Gly458=) c.*906G>A (n.*906G>A) c.1189G>A (n.1189G>A) c.*871G>A (n.*871G>A) c.1452G>A (p.Gly484=) c.*732G>A (n.*732G>A) c.1560G>A (p.Gly520=) c.882G>A (p.Gly294=) c.1467G>A (p.Gly489=) c.1336G>A (n.1336G>A) c.144G>A (p.Gly48=) c.717G>A (p.Gly239=) c.1395G>A (p.Gly465=) c.1518G>A (p.Gly506=) c.792G>A (p.Gly264=) c.1398G>A (p.Gly466=) n.2423+2696C>T n.1757G>A | |
10 | g.18539373G>C | CA468627901 | CACNB2,NSUN6 | c.1488G>C (p.Gly496=) c.1353G>C (p.Gly451=) c.1476G>C (p.Gly492=) c.1548G>C (p.Gly516=) c.1632G>C (p.Gly544=) c.1470G>C (p.Gly490=) c.1257G>C (p.Gly419=) c.1434G>C (p.Gly478=) c.*773G>C (n.*773G>C) c.1374G>C (p.Gly458=) c.*906G>C (n.*906G>C) c.1189G>C (n.1189G>C) c.*871G>C (n.*871G>C) c.1452G>C (p.Gly484=) c.*732G>C (n.*732G>C) c.1560G>C (p.Gly520=) c.882G>C (p.Gly294=) c.1467G>C (p.Gly489=) c.1336G>C (n.1336G>C) c.144G>C (p.Gly48=) c.717G>C (p.Gly239=) c.1395G>C (p.Gly465=) c.1518G>C (p.Gly506=) c.792G>C (p.Gly264=) c.1398G>C (p.Gly466=) n.2423+2696C>G n.1757G>C | |
10 | g.18539373G>T | CA468627904 | CACNB2,NSUN6 | c.1488G>T (p.Gly496=) c.1353G>T (p.Gly451=) c.1476G>T (p.Gly492=) c.1548G>T (p.Gly516=) c.1632G>T (p.Gly544=) c.1470G>T (p.Gly490=) c.1257G>T (p.Gly419=) c.1434G>T (p.Gly478=) c.*773G>T (n.*773G>T) c.1374G>T (p.Gly458=) c.*906G>T (n.*906G>T) c.1189G>T (n.1189G>T) c.*871G>T (n.*871G>T) c.1452G>T (p.Gly484=) c.*732G>T (n.*732G>T) c.1560G>T (p.Gly520=) c.882G>T (p.Gly294=) c.1467G>T (p.Gly489=) c.1336G>T (n.1336G>T) c.144G>T (p.Gly48=) c.717G>T (p.Gly239=) c.1395G>T (p.Gly465=) c.1518G>T (p.Gly506=) c.792G>T (p.Gly264=) c.1398G>T (p.Gly466=) n.2423+2696C>A n.1757G>T | |
10 | g.18539374A= | CA1894173234 | CACNB2,NSUN6 | c.1489A= (p.Thr497=) c.1354A= (p.Thr452=) c.1477A= (p.Thr493=) c.1549A= (p.Thr517=) c.1633A= (p.Thr545=) c.1471A= (p.Thr491=) c.1258A= (p.Thr420=) c.1435A= (p.Thr479=) c.*774A= (n.*774A=) c.1375A= (p.Thr459=) c.*907A= (n.*907A=) c.1190A= (n.1190A=) c.*872A= (n.*872A=) c.1453A= (p.Thr485=) c.*733A= (n.*733A=) c.1561A= (p.Thr521=) c.883A= (p.Thr295=) c.1468A= (p.Thr490=) c.1337A= (n.1337A=) c.145A= (p.Thr49=) c.718A= (p.Thr240=) c.1396A= (p.Thr466=) c.1519A= (p.Thr507=) c.793A= (p.Thr265=) c.1399A= (p.Thr467=) n.2423+2695T= n.1758A= | |
10 | g.18539374A>C | CA376071564 | CACNB2,NSUN6 | c.1489A>C (p.Thr497Pro) c.1354A>C (p.Thr452Pro) c.1477A>C (p.Thr493Pro) c.1549A>C (p.Thr517Pro) c.1633A>C (p.Thr545Pro) c.1471A>C (p.Thr491Pro) c.1258A>C (p.Thr420Pro) c.1435A>C (p.Thr479Pro) c.*774A>C (n.*774A>C) c.1375A>C (p.Thr459Pro) c.*907A>C (n.*907A>C) c.1190A>C (n.1190A>C) c.*872A>C (n.*872A>C) c.1453A>C (p.Thr485Pro) c.*733A>C (n.*733A>C) c.1561A>C (p.Thr521Pro) c.883A>C (p.Thr295Pro) c.1468A>C (p.Thr490Pro) c.1337A>C (n.1337A>C) c.145A>C (p.Thr49Pro) c.718A>C (p.Thr240Pro) c.1396A>C (p.Thr466Pro) c.1519A>C (p.Thr507Pro) c.793A>C (p.Thr265Pro) c.1399A>C (p.Thr467Pro) n.2423+2695T>G n.1758A>C | |
10 | g.18539374A>G | CA376071566 | CACNB2,NSUN6 | c.1489A>G (p.Thr497Ala) c.1354A>G (p.Thr452Ala) c.1477A>G (p.Thr493Ala) c.1549A>G (p.Thr517Ala) c.1633A>G (p.Thr545Ala) c.1471A>G (p.Thr491Ala) c.1258A>G (p.Thr420Ala) c.1435A>G (p.Thr479Ala) c.*774A>G (n.*774A>G) c.1375A>G (p.Thr459Ala) c.*907A>G (n.*907A>G) c.1190A>G (n.1190A>G) c.*872A>G (n.*872A>G) c.1453A>G (p.Thr485Ala) c.*733A>G (n.*733A>G) c.1561A>G (p.Thr521Ala) c.883A>G (p.Thr295Ala) c.1468A>G (p.Thr490Ala) c.1337A>G (n.1337A>G) c.145A>G (p.Thr49Ala) c.718A>G (p.Thr240Ala) c.1396A>G (p.Thr466Ala) c.1519A>G (p.Thr507Ala) c.793A>G (p.Thr265Ala) c.1399A>G (p.Thr467Ala) n.2423+2695T>C n.1758A>G | |
10 | g.18539374A>T | CA376071567 | CACNB2,NSUN6 | c.1489A>T (p.Thr497Ser) c.1354A>T (p.Thr452Ser) c.1477A>T (p.Thr493Ser) c.1549A>T (p.Thr517Ser) c.1633A>T (p.Thr545Ser) c.1471A>T (p.Thr491Ser) c.1258A>T (p.Thr420Ser) c.1435A>T (p.Thr479Ser) c.*774A>T (n.*774A>T) c.1375A>T (p.Thr459Ser) c.*907A>T (n.*907A>T) c.1190A>T (n.1190A>T) c.*872A>T (n.*872A>T) c.1453A>T (p.Thr485Ser) c.*733A>T (n.*733A>T) c.1561A>T (p.Thr521Ser) c.883A>T (p.Thr295Ser) c.1468A>T (p.Thr490Ser) c.1337A>T (n.1337A>T) c.145A>T (p.Thr49Ser) c.718A>T (p.Thr240Ser) c.1396A>T (p.Thr466Ser) c.1519A>T (p.Thr507Ser) c.793A>T (p.Thr265Ser) c.1399A>T (p.Thr467Ser) n.2423+2695T>A n.1758A>T | |
10 | g.18539375C>A | CA376071570 | CACNB2,NSUN6 | c.1490C>A (p.Thr497Lys) c.1355C>A (p.Thr452Lys) c.1478C>A (p.Thr493Lys) c.1550C>A (p.Thr517Lys) c.1634C>A (p.Thr545Lys) c.1472C>A (p.Thr491Lys) c.1259C>A (p.Thr420Lys) c.1436C>A (p.Thr479Lys) c.*775C>A (n.*775C>A) c.1376C>A (p.Thr459Lys) c.*908C>A (n.*908C>A) c.1191C>A (n.1191C>A) c.*873C>A (n.*873C>A) c.1454C>A (p.Thr485Lys) c.*734C>A (n.*734C>A) c.1562C>A (p.Thr521Lys) c.884C>A (p.Thr295Lys) c.1469C>A (p.Thr490Lys) c.1338C>A (n.1338C>A) c.146C>A (p.Thr49Lys) c.719C>A (p.Thr240Lys) c.1397C>A (p.Thr466Lys) c.1520C>A (p.Thr507Lys) c.794C>A (p.Thr265Lys) c.1400C>A (p.Thr467Lys) n.2423+2694G>T n.1759C>A | |
10 | g.18539375C= | CA1894173238 | CACNB2,NSUN6 | c.1490C= (p.Thr497=) c.1355C= (p.Thr452=) c.1478C= (p.Thr493=) c.1550C= (p.Thr517=) c.1634C= (p.Thr545=) c.1472C= (p.Thr491=) c.1259C= (p.Thr420=) c.1436C= (p.Thr479=) c.*775C= (n.*775C=) c.1376C= (p.Thr459=) c.*908C= (n.*908C=) c.1191C= (n.1191C=) c.*873C= (n.*873C=) c.1454C= (p.Thr485=) c.*734C= (n.*734C=) c.1562C= (p.Thr521=) c.884C= (p.Thr295=) c.1469C= (p.Thr490=) c.1338C= (n.1338C=) c.146C= (p.Thr49=) c.719C= (p.Thr240=) c.1397C= (p.Thr466=) c.1520C= (p.Thr507=) c.794C= (p.Thr265=) c.1400C= (p.Thr467=) n.2423+2694G= n.1759C= | |
10 | g.18539375C>G | CA203167190 | CACNB2,NSUN6 | c.1490C>G (p.Thr497Arg) c.1355C>G (p.Thr452Arg) c.1478C>G (p.Thr493Arg) c.1550C>G (p.Thr517Arg) c.1634C>G (p.Thr545Arg) c.1472C>G (p.Thr491Arg) c.1259C>G (p.Thr420Arg) c.1436C>G (p.Thr479Arg) c.*775C>G (n.*775C>G) c.1376C>G (p.Thr459Arg) c.*908C>G (n.*908C>G) c.1191C>G (n.1191C>G) c.*873C>G (n.*873C>G) c.1454C>G (p.Thr485Arg) c.*734C>G (n.*734C>G) c.1562C>G (p.Thr521Arg) c.884C>G (p.Thr295Arg) c.1469C>G (p.Thr490Arg) c.1338C>G (n.1338C>G) c.146C>G (p.Thr49Arg) c.719C>G (p.Thr240Arg) c.1397C>G (p.Thr466Arg) c.1520C>G (p.Thr507Arg) c.794C>G (p.Thr265Arg) c.1400C>G (p.Thr467Arg) n.2423+2694G>C n.1759C>G | dbSNP |
10 | g.18539375C>T | CA5430114 | CACNB2,NSUN6 | c.1490C>T (p.Thr497Ile) c.1355C>T (p.Thr452Ile) c.1478C>T (p.Thr493Ile) c.1550C>T (p.Thr517Ile) c.1634C>T (p.Thr545Ile) c.1472C>T (p.Thr491Ile) c.1259C>T (p.Thr420Ile) c.1436C>T (p.Thr479Ile) c.*775C>T (n.*775C>T) c.1376C>T (p.Thr459Ile) c.*908C>T (n.*908C>T) c.1191C>T (n.1191C>T) c.*873C>T (n.*873C>T) c.1454C>T (p.Thr485Ile) c.*734C>T (n.*734C>T) c.1562C>T (p.Thr521Ile) c.884C>T (p.Thr295Ile) c.1469C>T (p.Thr490Ile) c.1338C>T (n.1338C>T) c.146C>T (p.Thr49Ile) c.719C>T (p.Thr240Ile) c.1397C>T (p.Thr466Ile) c.1520C>T (p.Thr507Ile) c.794C>T (p.Thr265Ile) c.1400C>T (p.Thr467Ile) n.2423+2694G>A n.1759C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.18539376_18539380dup | CA5430113 | CACNB2,NSUN6 | c.1491_1495dup (p.Arg499GlnfsTer24) c.1356_1360dup (p.Arg454GlnfsTer24) c.1479_1483dup (p.Arg495GlnfsTer24) c.1551_1555dup (p.Arg519GlnfsTer24) c.1635_1639dup (p.Arg547GlnfsTer24) c.1473_1477dup (p.Arg493GlnfsTer24) c.1260_1264dup (p.Arg422GlnfsTer24) c.1437_1441dup (p.Arg481GlnfsTer24) c.*776_*780dup (n.*776_*780dup) c.1377_1381dup (p.Arg461GlnfsTer24) c.*909_*913dup (n.*909_*913dup) c.1192_1196dup (n.1192_1196dup) c.*874_*878dup (n.*874_*878dup) c.1455_1459dup (p.Arg487GlnfsTer24) c.*735_*739dup (n.*735_*739dup) c.1563_1567dup (p.Arg523GlnfsTer24) c.885_889dup (p.Arg297GlnfsTer24) c.1470_1474dup (p.Arg492GlnfsTer24) c.1339_1343dup (n.1339_1343dup) c.147_151dup (p.Arg51GlnfsTer24) c.720_724dup (p.Arg242GlnfsTer24) c.1398_1402dup (p.Arg468GlnfsTer24) c.1521_1525dup (p.Arg509GlnfsTer24) c.795_799dup (p.Arg267GlnfsTer24) c.1401_1405dup (p.Arg469GlnfsTer24) n.2423+2690_2423+2694dup n.1760_1764dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.18539376A= | CA1894173242 | CACNB2,NSUN6 | c.1491A= (p.Thr497=) c.1356A= (p.Thr452=) c.1479A= (p.Thr493=) c.1551A= (p.Thr517=) c.1635A= (p.Thr545=) c.1473A= (p.Thr491=) c.1260A= (p.Thr420=) c.1437A= (p.Thr479=) c.*776A= (n.*776A=) c.1377A= (p.Thr459=) c.*909A= (n.*909A=) c.1192A= (n.1192A=) c.*874A= (n.*874A=) c.1455A= (p.Thr485=) c.*735A= (n.*735A=) c.1563A= (p.Thr521=) c.885A= (p.Thr295=) c.1470A= (p.Thr490=) c.1339A= (n.1339A=) c.147A= (p.Thr49=) c.720A= (p.Thr240=) c.1398A= (p.Thr466=) c.1521A= (p.Thr507=) c.795A= (p.Thr265=) c.1401A= (p.Thr467=) n.2423+2693T= n.1760A= | |
10 | g.18539376A>C | CA468627932 | CACNB2,NSUN6 | c.1491A>C (p.Thr497=) c.1356A>C (p.Thr452=) c.1479A>C (p.Thr493=) c.1551A>C (p.Thr517=) c.1635A>C (p.Thr545=) c.1473A>C (p.Thr491=) c.1260A>C (p.Thr420=) c.1437A>C (p.Thr479=) c.*776A>C (n.*776A>C) c.1377A>C (p.Thr459=) c.*909A>C (n.*909A>C) c.1192A>C (n.1192A>C) c.*874A>C (n.*874A>C) c.1455A>C (p.Thr485=) c.*735A>C (n.*735A>C) c.1563A>C (p.Thr521=) c.885A>C (p.Thr295=) c.1470A>C (p.Thr490=) c.1339A>C (n.1339A>C) c.147A>C (p.Thr49=) c.720A>C (p.Thr240=) c.1398A>C (p.Thr466=) c.1521A>C (p.Thr507=) c.795A>C (p.Thr265=) c.1401A>C (p.Thr467=) n.2423+2693T>G n.1760A>C | |
10 | g.18539376A>G | CA5430115 | CACNB2,NSUN6 | c.1491A>G (p.Thr497=) c.1356A>G (p.Thr452=) c.1479A>G (p.Thr493=) c.1551A>G (p.Thr517=) c.1635A>G (p.Thr545=) c.1473A>G (p.Thr491=) c.1260A>G (p.Thr420=) c.1437A>G (p.Thr479=) c.*776A>G (n.*776A>G) c.1377A>G (p.Thr459=) c.*909A>G (n.*909A>G) c.1192A>G (n.1192A>G) c.*874A>G (n.*874A>G) c.1455A>G (p.Thr485=) c.*735A>G (n.*735A>G) c.1563A>G (p.Thr521=) c.885A>G (p.Thr295=) c.1470A>G (p.Thr490=) c.1339A>G (n.1339A>G) c.147A>G (p.Thr49=) c.720A>G (p.Thr240=) c.1398A>G (p.Thr466=) c.1521A>G (p.Thr507=) c.795A>G (p.Thr265=) c.1401A>G (p.Thr467=) n.2423+2693T>C n.1760A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.18539376A>T | CA468627938 | CACNB2,NSUN6 | c.1491A>T (p.Thr497=) c.1356A>T (p.Thr452=) c.1479A>T (p.Thr493=) c.1551A>T (p.Thr517=) c.1635A>T (p.Thr545=) c.1473A>T (p.Thr491=) c.1260A>T (p.Thr420=) c.1437A>T (p.Thr479=) c.*776A>T (n.*776A>T) c.1377A>T (p.Thr459=) c.*909A>T (n.*909A>T) c.1192A>T (n.1192A>T) c.*874A>T (n.*874A>T) c.1455A>T (p.Thr485=) c.*735A>T (n.*735A>T) c.1563A>T (p.Thr521=) c.885A>T (p.Thr295=) c.1470A>T (p.Thr490=) c.1339A>T (n.1339A>T) c.147A>T (p.Thr49=) c.720A>T (p.Thr240=) c.1398A>T (p.Thr466=) c.1521A>T (p.Thr507=) c.795A>T (p.Thr265=) c.1401A>T (p.Thr467=) n.2423+2693T>A n.1760A>T | |
10 | g.18539377A>C | CA376071572 | CACNB2,NSUN6 | c.1492A>C (p.Ser498Arg) c.1357A>C (p.Ser453Arg) c.1480A>C (p.Ser494Arg) c.1552A>C (p.Ser518Arg) c.1636A>C (p.Ser546Arg) c.1474A>C (p.Ser492Arg) c.1261A>C (p.Ser421Arg) c.1438A>C (p.Ser480Arg) c.*777A>C (n.*777A>C) c.1378A>C (p.Ser460Arg) c.*910A>C (n.*910A>C) c.1193A>C (n.1193A>C) c.*875A>C (n.*875A>C) c.1456A>C (p.Ser486Arg) c.*736A>C (n.*736A>C) c.1564A>C (p.Ser522Arg) c.886A>C (p.Ser296Arg) c.1471A>C (p.Ser491Arg) c.1340A>C (n.1340A>C) c.148A>C (p.Ser50Arg) c.721A>C (p.Ser241Arg) c.1399A>C (p.Ser467Arg) c.1522A>C (p.Ser508Arg) c.796A>C (p.Ser266Arg) c.1402A>C (p.Ser468Arg) n.2423+2692T>G n.1761A>C | |
10 | g.18539377A>G | CA376071573 | CACNB2,NSUN6 | c.1492A>G (p.Ser498Gly) c.1357A>G (p.Ser453Gly) c.1480A>G (p.Ser494Gly) c.1552A>G (p.Ser518Gly) c.1636A>G (p.Ser546Gly) c.1474A>G (p.Ser492Gly) c.1261A>G (p.Ser421Gly) c.1438A>G (p.Ser480Gly) c.*777A>G (n.*777A>G) c.1378A>G (p.Ser460Gly) c.*910A>G (n.*910A>G) c.1193A>G (n.1193A>G) c.*875A>G (n.*875A>G) c.1456A>G (p.Ser486Gly) c.*736A>G (n.*736A>G) c.1564A>G (p.Ser522Gly) c.886A>G (p.Ser296Gly) c.1471A>G (p.Ser491Gly) c.1340A>G (n.1340A>G) c.148A>G (p.Ser50Gly) c.721A>G (p.Ser241Gly) c.1399A>G (p.Ser467Gly) c.1522A>G (p.Ser508Gly) c.796A>G (p.Ser266Gly) c.1402A>G (p.Ser468Gly) n.2423+2692T>C n.1761A>G | |
10 | g.18539377A>T | CA376071574 | CACNB2,NSUN6 | c.1492A>T (p.Ser498Cys) c.1357A>T (p.Ser453Cys) c.1480A>T (p.Ser494Cys) c.1552A>T (p.Ser518Cys) c.1636A>T (p.Ser546Cys) c.1474A>T (p.Ser492Cys) c.1261A>T (p.Ser421Cys) c.1438A>T (p.Ser480Cys) c.*777A>T (n.*777A>T) c.1378A>T (p.Ser460Cys) c.*910A>T (n.*910A>T) c.1193A>T (n.1193A>T) c.*875A>T (n.*875A>T) c.1456A>T (p.Ser486Cys) c.*736A>T (n.*736A>T) c.1564A>T (p.Ser522Cys) c.886A>T (p.Ser296Cys) c.1471A>T (p.Ser491Cys) c.1340A>T (n.1340A>T) c.148A>T (p.Ser50Cys) c.721A>T (p.Ser241Cys) c.1399A>T (p.Ser467Cys) c.1522A>T (p.Ser508Cys) c.796A>T (p.Ser266Cys) c.1402A>T (p.Ser468Cys) n.2423+2692T>A n.1761A>T | |
10 | g.18539378G>A | CA376071576 | CACNB2,NSUN6 | c.1493G>A (p.Ser498Asn) c.1358G>A (p.Ser453Asn) c.1481G>A (p.Ser494Asn) c.1553G>A (p.Ser518Asn) c.1637G>A (p.Ser546Asn) c.1475G>A (p.Ser492Asn) c.1262G>A (p.Ser421Asn) c.1439G>A (p.Ser480Asn) c.*778G>A (n.*778G>A) c.1379G>A (p.Ser460Asn) c.*911G>A (n.*911G>A) c.1194G>A (n.1194G>A) c.*876G>A (n.*876G>A) c.1457G>A (p.Ser486Asn) c.*737G>A (n.*737G>A) c.1565G>A (p.Ser522Asn) c.887G>A (p.Ser296Asn) c.1472G>A (p.Ser491Asn) c.1341G>A (n.1341G>A) c.149G>A (p.Ser50Asn) c.722G>A (p.Ser241Asn) c.1400G>A (p.Ser467Asn) c.1523G>A (p.Ser508Asn) c.797G>A (p.Ser266Asn) c.1403G>A (p.Ser468Asn) n.2423+2691C>T n.1762G>A | |
10 | g.18539378G>C | CA376071578 | CACNB2,NSUN6 | c.1493G>C (p.Ser498Thr) c.1358G>C (p.Ser453Thr) c.1481G>C (p.Ser494Thr) c.1553G>C (p.Ser518Thr) c.1637G>C (p.Ser546Thr) c.1475G>C (p.Ser492Thr) c.1262G>C (p.Ser421Thr) c.1439G>C (p.Ser480Thr) c.*778G>C (n.*778G>C) c.1379G>C (p.Ser460Thr) c.*911G>C (n.*911G>C) c.1194G>C (n.1194G>C) c.*876G>C (n.*876G>C) c.1457G>C (p.Ser486Thr) c.*737G>C (n.*737G>C) c.1565G>C (p.Ser522Thr) c.887G>C (p.Ser296Thr) c.1472G>C (p.Ser491Thr) c.1341G>C (n.1341G>C) c.149G>C (p.Ser50Thr) c.722G>C (p.Ser241Thr) c.1400G>C (p.Ser467Thr) c.1523G>C (p.Ser508Thr) c.797G>C (p.Ser266Thr) c.1403G>C (p.Ser468Thr) n.2423+2691C>G n.1762G>C | |
10 | g.18539378G>T | CA376071580 | CACNB2,NSUN6 | c.1493G>T (p.Ser498Ile) c.1358G>T (p.Ser453Ile) c.1481G>T (p.Ser494Ile) c.1553G>T (p.Ser518Ile) c.1637G>T (p.Ser546Ile) c.1475G>T (p.Ser492Ile) c.1262G>T (p.Ser421Ile) c.1439G>T (p.Ser480Ile) c.*778G>T (n.*778G>T) c.1379G>T (p.Ser460Ile) c.*911G>T (n.*911G>T) c.1194G>T (n.1194G>T) c.*876G>T (n.*876G>T) c.1457G>T (p.Ser486Ile) c.*737G>T (n.*737G>T) c.1565G>T (p.Ser522Ile) c.887G>T (p.Ser296Ile) c.1472G>T (p.Ser491Ile) c.1341G>T (n.1341G>T) c.149G>T (p.Ser50Ile) c.722G>T (p.Ser241Ile) c.1400G>T (p.Ser467Ile) c.1523G>T (p.Ser508Ile) c.797G>T (p.Ser266Ile) c.1403G>T (p.Ser468Ile) n.2423+2691C>A n.1762G>T | |
10 | g.18539379T>A | CA376071581 | CACNB2,NSUN6 | c.1494T>A (p.Ser498Arg) c.1359T>A (p.Ser453Arg) c.1482T>A (p.Ser494Arg) c.1554T>A (p.Ser518Arg) c.1638T>A (p.Ser546Arg) c.1476T>A (p.Ser492Arg) c.1263T>A (p.Ser421Arg) c.1440T>A (p.Ser480Arg) c.*779T>A (n.*779T>A) c.1380T>A (p.Ser460Arg) c.*912T>A (n.*912T>A) c.1195T>A (n.1195T>A) c.*877T>A (n.*877T>A) c.1458T>A (p.Ser486Arg) c.*738T>A (n.*738T>A) c.1566T>A (p.Ser522Arg) c.888T>A (p.Ser296Arg) c.1473T>A (p.Ser491Arg) c.1342T>A (n.1342T>A) c.150T>A (p.Ser50Arg) c.723T>A (p.Ser241Arg) c.1401T>A (p.Ser467Arg) c.1524T>A (p.Ser508Arg) c.798T>A (p.Ser266Arg) c.1404T>A (p.Ser468Arg) n.2423+2690A>T n.1763T>A | |
10 | g.18539379T>C | CA468627949 | CACNB2,NSUN6 | c.1494T>C (p.Ser498=) c.1359T>C (p.Ser453=) c.1482T>C (p.Ser494=) c.1554T>C (p.Ser518=) c.1638T>C (p.Ser546=) c.1476T>C (p.Ser492=) c.1263T>C (p.Ser421=) c.1440T>C (p.Ser480=) c.*779T>C (n.*779T>C) c.1380T>C (p.Ser460=) c.*912T>C (n.*912T>C) c.1195T>C (n.1195T>C) c.*877T>C (n.*877T>C) c.1458T>C (p.Ser486=) c.*738T>C (n.*738T>C) c.1566T>C (p.Ser522=) c.888T>C (p.Ser296=) c.1473T>C (p.Ser491=) c.1342T>C (n.1342T>C) c.150T>C (p.Ser50=) c.723T>C (p.Ser241=) c.1401T>C (p.Ser467=) c.1524T>C (p.Ser508=) c.798T>C (p.Ser266=) c.1404T>C (p.Ser468=) n.2423+2690A>G n.1763T>C | |
10 | g.18539379T>G | CA376071583 | CACNB2,NSUN6 | c.1494T>G (p.Ser498Arg) c.1359T>G (p.Ser453Arg) c.1482T>G (p.Ser494Arg) c.1554T>G (p.Ser518Arg) c.1638T>G (p.Ser546Arg) c.1476T>G (p.Ser492Arg) c.1263T>G (p.Ser421Arg) c.1440T>G (p.Ser480Arg) c.*779T>G (n.*779T>G) c.1380T>G (p.Ser460Arg) c.*912T>G (n.*912T>G) c.1195T>G (n.1195T>G) c.*877T>G (n.*877T>G) c.1458T>G (p.Ser486Arg) c.*738T>G (n.*738T>G) c.1566T>G (p.Ser522Arg) c.888T>G (p.Ser296Arg) c.1473T>G (p.Ser491Arg) c.1342T>G (n.1342T>G) c.150T>G (p.Ser50Arg) c.723T>G (p.Ser241Arg) c.1401T>G (p.Ser467Arg) c.1524T>G (p.Ser508Arg) c.798T>G (p.Ser266Arg) c.1404T>G (p.Ser468Arg) n.2423+2690A>C n.1763T>G | |
10 | g.18539380C>A | CA376071584 | CACNB2,NSUN6 | c.1495C>A (p.Arg499Ser) c.1360C>A (p.Arg454Ser) c.1483C>A (p.Arg495Ser) c.1555C>A (p.Arg519Ser) c.1639C>A (p.Arg547Ser) c.1477C>A (p.Arg493Ser) c.1264C>A (p.Arg422Ser) c.1441C>A (p.Arg481Ser) c.*780C>A (n.*780C>A) c.1381C>A (p.Arg461Ser) c.*913C>A (n.*913C>A) c.1196C>A (n.1196C>A) c.*878C>A (n.*878C>A) c.1459C>A (p.Arg487Ser) c.*739C>A (n.*739C>A) c.1567C>A (p.Arg523Ser) c.889C>A (p.Arg297Ser) c.1474C>A (p.Arg492Ser) c.1343C>A (n.1343C>A) c.151C>A (p.Arg51Ser) c.724C>A (p.Arg242Ser) c.1402C>A (p.Arg468Ser) c.1525C>A (p.Arg509Ser) c.799C>A (p.Arg267Ser) c.1405C>A (p.Arg469Ser) n.2423+2689G>T n.1764C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.18539380C= | CA1894173249 | CACNB2,NSUN6 | c.1495C= (p.Arg499=) c.1360C= (p.Arg454=) c.1483C= (p.Arg495=) c.1555C= (p.Arg519=) c.1639C= (p.Arg547=) c.1477C= (p.Arg493=) c.1264C= (p.Arg422=) c.1441C= (p.Arg481=) c.*780C= (n.*780C=) c.1381C= (p.Arg461=) c.*913C= (n.*913C=) c.1196C= (n.1196C=) c.*878C= (n.*878C=) c.1459C= (p.Arg487=) c.*739C= (n.*739C=) c.1567C= (p.Arg523=) c.889C= (p.Arg297=) c.1474C= (p.Arg492=) c.1343C= (n.1343C=) c.151C= (p.Arg51=) c.724C= (p.Arg242=) c.1402C= (p.Arg468=) c.1525C= (p.Arg509=) c.799C= (p.Arg267=) c.1405C= (p.Arg469=) n.2423+2689G= n.1764C= | |
10 | g.18539380C>G | CA376071585 | CACNB2,NSUN6 | c.1495C>G (p.Arg499Gly) c.1360C>G (p.Arg454Gly) c.1483C>G (p.Arg495Gly) c.1555C>G (p.Arg519Gly) c.1639C>G (p.Arg547Gly) c.1477C>G (p.Arg493Gly) c.1264C>G (p.Arg422Gly) c.1441C>G (p.Arg481Gly) c.*780C>G (n.*780C>G) c.1381C>G (p.Arg461Gly) c.*913C>G (n.*913C>G) c.1196C>G (n.1196C>G) c.*878C>G (n.*878C>G) c.1459C>G (p.Arg487Gly) c.*739C>G (n.*739C>G) c.1567C>G (p.Arg523Gly) c.889C>G (p.Arg297Gly) c.1474C>G (p.Arg492Gly) c.1343C>G (n.1343C>G) c.151C>G (p.Arg51Gly) c.724C>G (p.Arg242Gly) c.1402C>G (p.Arg468Gly) c.1525C>G (p.Arg509Gly) c.799C>G (p.Arg267Gly) c.1405C>G (p.Arg469Gly) n.2423+2689G>C n.1764C>G | |
10 | g.18539380C>T | CA5430116 | CACNB2,NSUN6 | c.1495C>T (p.Arg499Cys) c.1360C>T (p.Arg454Cys) c.1483C>T (p.Arg495Cys) c.1555C>T (p.Arg519Cys) c.1639C>T (p.Arg547Cys) c.1477C>T (p.Arg493Cys) c.1264C>T (p.Arg422Cys) c.1441C>T (p.Arg481Cys) c.*780C>T (n.*780C>T) c.1381C>T (p.Arg461Cys) c.*913C>T (n.*913C>T) c.1196C>T (n.1196C>T) c.*878C>T (n.*878C>T) c.1459C>T (p.Arg487Cys) c.*739C>T (n.*739C>T) c.1567C>T (p.Arg523Cys) c.889C>T (p.Arg297Cys) c.1474C>T (p.Arg492Cys) c.1343C>T (n.1343C>T) c.151C>T (p.Arg51Cys) c.724C>T (p.Arg242Cys) c.1402C>T (p.Arg468Cys) c.1525C>T (p.Arg509Cys) c.799C>T (p.Arg267Cys) c.1405C>T (p.Arg469Cys) n.2423+2689G>A n.1764C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539381G>A | CA5430117 | CACNB2,NSUN6 | c.1496G>A (p.Arg499His) c.1361G>A (p.Arg454His) c.1484G>A (p.Arg495His) c.1556G>A (p.Arg519His) c.1640G>A (p.Arg547His) c.1478G>A (p.Arg493His) c.1265G>A (p.Arg422His) c.1442G>A (p.Arg481His) c.*781G>A (n.*781G>A) c.1382G>A (p.Arg461His) c.*914G>A (n.*914G>A) c.1197G>A (n.1197G>A) c.*879G>A (n.*879G>A) c.1460G>A (p.Arg487His) c.*740G>A (n.*740G>A) c.1568G>A (p.Arg523His) c.890G>A (p.Arg297His) c.1475G>A (p.Arg492His) c.1344G>A (n.1344G>A) c.152G>A (p.Arg51His) c.725G>A (p.Arg242His) c.1403G>A (p.Arg468His) c.1526G>A (p.Arg509His) c.800G>A (p.Arg267His) c.1406G>A (p.Arg469His) n.2423+2688C>T n.1765G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539381G>C | CA376071588 | CACNB2,NSUN6 | c.1496G>C (p.Arg499Pro) c.1361G>C (p.Arg454Pro) c.1484G>C (p.Arg495Pro) c.1556G>C (p.Arg519Pro) c.1640G>C (p.Arg547Pro) c.1478G>C (p.Arg493Pro) c.1265G>C (p.Arg422Pro) c.1442G>C (p.Arg481Pro) c.*781G>C (n.*781G>C) c.1382G>C (p.Arg461Pro) c.*914G>C (n.*914G>C) c.1197G>C (n.1197G>C) c.*879G>C (n.*879G>C) c.1460G>C (p.Arg487Pro) c.*740G>C (n.*740G>C) c.1568G>C (p.Arg523Pro) c.890G>C (p.Arg297Pro) c.1475G>C (p.Arg492Pro) c.1344G>C (n.1344G>C) c.152G>C (p.Arg51Pro) c.725G>C (p.Arg242Pro) c.1403G>C (p.Arg468Pro) c.1526G>C (p.Arg509Pro) c.800G>C (p.Arg267Pro) c.1406G>C (p.Arg469Pro) n.2423+2688C>G n.1765G>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.18539381G= | CA1894173255 | CACNB2,NSUN6 | c.1496G= (p.Arg499=) c.1361G= (p.Arg454=) c.1484G= (p.Arg495=) c.1556G= (p.Arg519=) c.1640G= (p.Arg547=) c.1478G= (p.Arg493=) c.1265G= (p.Arg422=) c.1442G= (p.Arg481=) c.*781G= (n.*781G=) c.1382G= (p.Arg461=) c.*914G= (n.*914G=) c.1197G= (n.1197G=) c.*879G= (n.*879G=) c.1460G= (p.Arg487=) c.*740G= (n.*740G=) c.1568G= (p.Arg523=) c.890G= (p.Arg297=) c.1475G= (p.Arg492=) c.1344G= (n.1344G=) c.152G= (p.Arg51=) c.725G= (p.Arg242=) c.1403G= (p.Arg468=) c.1526G= (p.Arg509=) c.800G= (p.Arg267=) c.1406G= (p.Arg469=) n.2423+2688C= n.1765G= | |
10 | g.18539381G>T | CA376071586 | CACNB2,NSUN6 | c.1496G>T (p.Arg499Leu) c.1361G>T (p.Arg454Leu) c.1484G>T (p.Arg495Leu) c.1556G>T (p.Arg519Leu) c.1640G>T (p.Arg547Leu) c.1478G>T (p.Arg493Leu) c.1265G>T (p.Arg422Leu) c.1442G>T (p.Arg481Leu) c.*781G>T (n.*781G>T) c.1382G>T (p.Arg461Leu) c.*914G>T (n.*914G>T) c.1197G>T (n.1197G>T) c.*879G>T (n.*879G>T) c.1460G>T (p.Arg487Leu) c.*740G>T (n.*740G>T) c.1568G>T (p.Arg523Leu) c.890G>T (p.Arg297Leu) c.1475G>T (p.Arg492Leu) c.1344G>T (n.1344G>T) c.152G>T (p.Arg51Leu) c.725G>T (p.Arg242Leu) c.1403G>T (p.Arg468Leu) c.1526G>T (p.Arg509Leu) c.800G>T (p.Arg267Leu) c.1406G>T (p.Arg469Leu) n.2423+2688C>A n.1765G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539382C>A | CA468627965 | CACNB2,NSUN6 | c.1497C>A (p.Arg499=) c.1362C>A (p.Arg454=) c.1485C>A (p.Arg495=) c.1557C>A (p.Arg519=) c.1641C>A (p.Arg547=) c.1479C>A (p.Arg493=) c.1266C>A (p.Arg422=) c.1443C>A (p.Arg481=) c.*782C>A (n.*782C>A) c.1383C>A (p.Arg461=) c.*915C>A (n.*915C>A) c.1198C>A (n.1198C>A) c.*880C>A (n.*880C>A) c.1461C>A (p.Arg487=) c.*741C>A (n.*741C>A) c.1569C>A (p.Arg523=) c.891C>A (p.Arg297=) c.1476C>A (p.Arg492=) c.1345C>A (n.1345C>A) c.153C>A (p.Arg51=) c.726C>A (p.Arg242=) c.1404C>A (p.Arg468=) c.1527C>A (p.Arg509=) c.801C>A (p.Arg267=) c.1407C>A (p.Arg469=) n.2423+2687G>T n.1766C>A | |
10 | g.18539382C= | CA1894173260 | CACNB2,NSUN6 | c.1497C= (p.Arg499=) c.1362C= (p.Arg454=) c.1485C= (p.Arg495=) c.1557C= (p.Arg519=) c.1641C= (p.Arg547=) c.1479C= (p.Arg493=) c.1266C= (p.Arg422=) c.1443C= (p.Arg481=) c.*782C= (n.*782C=) c.1383C= (p.Arg461=) c.*915C= (n.*915C=) c.1198C= (n.1198C=) c.*880C= (n.*880C=) c.1461C= (p.Arg487=) c.*741C= (n.*741C=) c.1569C= (p.Arg523=) c.891C= (p.Arg297=) c.1476C= (p.Arg492=) c.1345C= (n.1345C=) c.153C= (p.Arg51=) c.726C= (p.Arg242=) c.1404C= (p.Arg468=) c.1527C= (p.Arg509=) c.801C= (p.Arg267=) c.1407C= (p.Arg469=) n.2423+2687G= n.1766C= | |
10 | g.18539382C>G | CA468627968 | CACNB2,NSUN6 | c.1497C>G (p.Arg499=) c.1362C>G (p.Arg454=) c.1485C>G (p.Arg495=) c.1557C>G (p.Arg519=) c.1641C>G (p.Arg547=) c.1479C>G (p.Arg493=) c.1266C>G (p.Arg422=) c.1443C>G (p.Arg481=) c.*782C>G (n.*782C>G) c.1383C>G (p.Arg461=) c.*915C>G (n.*915C>G) c.1198C>G (n.1198C>G) c.*880C>G (n.*880C>G) c.1461C>G (p.Arg487=) c.*741C>G (n.*741C>G) c.1569C>G (p.Arg523=) c.891C>G (p.Arg297=) c.1476C>G (p.Arg492=) c.1345C>G (n.1345C>G) c.153C>G (p.Arg51=) c.726C>G (p.Arg242=) c.1404C>G (p.Arg468=) c.1527C>G (p.Arg509=) c.801C>G (p.Arg267=) c.1407C>G (p.Arg469=) n.2423+2687G>C n.1766C>G | |
10 | g.18539382C>T | CA5430118 | CACNB2,NSUN6 | c.1497C>T (p.Arg499=) c.1362C>T (p.Arg454=) c.1485C>T (p.Arg495=) c.1557C>T (p.Arg519=) c.1641C>T (p.Arg547=) c.1479C>T (p.Arg493=) c.1266C>T (p.Arg422=) c.1443C>T (p.Arg481=) c.*782C>T (n.*782C>T) c.1383C>T (p.Arg461=) c.*915C>T (n.*915C>T) c.1198C>T (n.1198C>T) c.*880C>T (n.*880C>T) c.1461C>T (p.Arg487=) c.*741C>T (n.*741C>T) c.1569C>T (p.Arg523=) c.891C>T (p.Arg297=) c.1476C>T (p.Arg492=) c.1345C>T (n.1345C>T) c.153C>T (p.Arg51=) c.726C>T (p.Arg242=) c.1404C>T (p.Arg468=) c.1527C>T (p.Arg509=) c.801C>T (p.Arg267=) c.1407C>T (p.Arg469=) n.2423+2687G>A n.1766C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.18539383G>A | CA301862 | CACNB2,NSUN6 | c.1498G>A (p.Gly500Ser) c.1363G>A (p.Gly455Ser) c.1486G>A (p.Gly496Ser) c.1558G>A (p.Gly520Ser) c.1642G>A (p.Gly548Ser) c.1480G>A (p.Gly494Ser) c.1267G>A (p.Gly423Ser) c.1444G>A (p.Gly482Ser) c.*783G>A (n.*783G>A) c.1384G>A (p.Gly462Ser) c.*916G>A (n.*916G>A) c.1199G>A (n.1199G>A) c.*881G>A (n.*881G>A) c.1462G>A (p.Gly488Ser) c.*742G>A (n.*742G>A) c.1570G>A (p.Gly524Ser) c.892G>A (p.Gly298Ser) c.1477G>A (p.Gly493Ser) c.1346G>A (n.1346G>A) c.154G>A (p.Gly52Ser) c.727G>A (p.Gly243Ser) c.1405G>A (p.Gly469Ser) c.1528G>A (p.Gly510Ser) c.802G>A (p.Gly268Ser) c.1408G>A (p.Gly470Ser) n.2423+2686C>T n.1767G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
10 | g.18539383G>C | CA376071591 | CACNB2,NSUN6 | c.1498G>C (p.Gly500Arg) c.1363G>C (p.Gly455Arg) c.1486G>C (p.Gly496Arg) c.1558G>C (p.Gly520Arg) c.1642G>C (p.Gly548Arg) c.1480G>C (p.Gly494Arg) c.1267G>C (p.Gly423Arg) c.1444G>C (p.Gly482Arg) c.*783G>C (n.*783G>C) c.1384G>C (p.Gly462Arg) c.*916G>C (n.*916G>C) c.1199G>C (n.1199G>C) c.*881G>C (n.*881G>C) c.1462G>C (p.Gly488Arg) c.*742G>C (n.*742G>C) c.1570G>C (p.Gly524Arg) c.892G>C (p.Gly298Arg) c.1477G>C (p.Gly493Arg) c.1346G>C (n.1346G>C) c.154G>C (p.Gly52Arg) c.727G>C (p.Gly243Arg) c.1405G>C (p.Gly469Arg) c.1528G>C (p.Gly510Arg) c.802G>C (p.Gly268Arg) c.1408G>C (p.Gly470Arg) n.2423+2686C>G n.1767G>C | |
10 | g.18539383G= | CA1894173265 | CACNB2,NSUN6 | c.1498G= (p.Gly500=) c.1363G= (p.Gly455=) c.1486G= (p.Gly496=) c.1558G= (p.Gly520=) c.1642G= (p.Gly548=) c.1480G= (p.Gly494=) c.1267G= (p.Gly423=) c.1444G= (p.Gly482=) c.*783G= (n.*783G=) c.1384G= (p.Gly462=) c.*916G= (n.*916G=) c.1199G= (n.1199G=) c.*881G= (n.*881G=) c.1462G= (p.Gly488=) c.*742G= (n.*742G=) c.1570G= (p.Gly524=) c.892G= (p.Gly298=) c.1477G= (p.Gly493=) c.1346G= (n.1346G=) c.154G= (p.Gly52=) c.727G= (p.Gly243=) c.1405G= (p.Gly469=) c.1528G= (p.Gly510=) c.802G= (p.Gly268=) c.1408G= (p.Gly470=) n.2423+2686C= n.1767G= | |
10 | g.18539383G>T | CA376071593 | CACNB2,NSUN6 | c.1498G>T (p.Gly500Cys) c.1363G>T (p.Gly455Cys) c.1486G>T (p.Gly496Cys) c.1558G>T (p.Gly520Cys) c.1642G>T (p.Gly548Cys) c.1480G>T (p.Gly494Cys) c.1267G>T (p.Gly423Cys) c.1444G>T (p.Gly482Cys) c.*783G>T (n.*783G>T) c.1384G>T (p.Gly462Cys) c.*916G>T (n.*916G>T) c.1199G>T (n.1199G>T) c.*881G>T (n.*881G>T) c.1462G>T (p.Gly488Cys) c.*742G>T (n.*742G>T) c.1570G>T (p.Gly524Cys) c.892G>T (p.Gly298Cys) c.1477G>T (p.Gly493Cys) c.1346G>T (n.1346G>T) c.154G>T (p.Gly52Cys) c.727G>T (p.Gly243Cys) c.1405G>T (p.Gly469Cys) c.1528G>T (p.Gly510Cys) c.802G>T (p.Gly268Cys) c.1408G>T (p.Gly470Cys) n.2423+2686C>A n.1767G>T | |
10 | g.18539384G>A | CA376071595 | CACNB2,NSUN6 | c.1499G>A (p.Gly500Asp) c.1364G>A (p.Gly455Asp) c.1487G>A (p.Gly496Asp) c.1559G>A (p.Gly520Asp) c.1643G>A (p.Gly548Asp) c.1481G>A (p.Gly494Asp) c.1268G>A (p.Gly423Asp) c.1445G>A (p.Gly482Asp) c.*784G>A (n.*784G>A) c.1385G>A (p.Gly462Asp) c.*917G>A (n.*917G>A) c.1200G>A (n.1200G>A) c.*882G>A (n.*882G>A) c.1463G>A (p.Gly488Asp) c.*743G>A (n.*743G>A) c.1571G>A (p.Gly524Asp) c.893G>A (p.Gly298Asp) c.1478G>A (p.Gly493Asp) c.1347G>A (n.1347G>A) c.155G>A (p.Gly52Asp) c.728G>A (p.Gly243Asp) c.1406G>A (p.Gly469Asp) c.1529G>A (p.Gly510Asp) c.803G>A (p.Gly268Asp) c.1409G>A (p.Gly470Asp) n.2423+2685C>T n.1768G>A | |
10 | g.18539384G>C | CA376071597 | CACNB2,NSUN6 | c.1499G>C (p.Gly500Ala) c.1364G>C (p.Gly455Ala) c.1487G>C (p.Gly496Ala) c.1559G>C (p.Gly520Ala) c.1643G>C (p.Gly548Ala) c.1481G>C (p.Gly494Ala) c.1268G>C (p.Gly423Ala) c.1445G>C (p.Gly482Ala) c.*784G>C (n.*784G>C) c.1385G>C (p.Gly462Ala) c.*917G>C (n.*917G>C) c.1200G>C (n.1200G>C) c.*882G>C (n.*882G>C) c.1463G>C (p.Gly488Ala) c.*743G>C (n.*743G>C) c.1571G>C (p.Gly524Ala) c.893G>C (p.Gly298Ala) c.1478G>C (p.Gly493Ala) c.1347G>C (n.1347G>C) c.155G>C (p.Gly52Ala) c.728G>C (p.Gly243Ala) c.1406G>C (p.Gly469Ala) c.1529G>C (p.Gly510Ala) c.803G>C (p.Gly268Ala) c.1409G>C (p.Gly470Ala) n.2423+2685C>G n.1768G>C | |
10 | g.18539384G>T | CA376071598 | CACNB2,NSUN6 | c.1499G>T (p.Gly500Val) c.1364G>T (p.Gly455Val) c.1487G>T (p.Gly496Val) c.1559G>T (p.Gly520Val) c.1643G>T (p.Gly548Val) c.1481G>T (p.Gly494Val) c.1268G>T (p.Gly423Val) c.1445G>T (p.Gly482Val) c.*784G>T (n.*784G>T) c.1385G>T (p.Gly462Val) c.*917G>T (n.*917G>T) c.1200G>T (n.1200G>T) c.*882G>T (n.*882G>T) c.1463G>T (p.Gly488Val) c.*743G>T (n.*743G>T) c.1571G>T (p.Gly524Val) c.893G>T (p.Gly298Val) c.1478G>T (p.Gly493Val) c.1347G>T (n.1347G>T) c.155G>T (p.Gly52Val) c.728G>T (p.Gly243Val) c.1406G>T (p.Gly469Val) c.1529G>T (p.Gly510Val) c.803G>T (p.Gly268Val) c.1409G>T (p.Gly470Val) n.2423+2685C>A n.1768G>T | |
10 | g.18539385C>A | CA468627992 | CACNB2,NSUN6 | c.1500C>A (p.Gly500=) c.1365C>A (p.Gly455=) c.1488C>A (p.Gly496=) c.1560C>A (p.Gly520=) c.1644C>A (p.Gly548=) c.1482C>A (p.Gly494=) c.1269C>A (p.Gly423=) c.1446C>A (p.Gly482=) c.*785C>A (n.*785C>A) c.1386C>A (p.Gly462=) c.*918C>A (n.*918C>A) c.1201C>A (n.1201C>A) c.*883C>A (n.*883C>A) c.1464C>A (p.Gly488=) c.*744C>A (n.*744C>A) c.1572C>A (p.Gly524=) c.894C>A (p.Gly298=) c.1479C>A (p.Gly493=) c.1348C>A (n.1348C>A) c.156C>A (p.Gly52=) c.729C>A (p.Gly243=) c.1407C>A (p.Gly469=) c.1530C>A (p.Gly510=) c.804C>A (p.Gly268=) c.1410C>A (p.Gly470=) n.2423+2684G>T n.1769C>A | |
10 | g.18539385C>G | CA468627997 | CACNB2,NSUN6 | c.1500C>G (p.Gly500=) c.1365C>G (p.Gly455=) c.1488C>G (p.Gly496=) c.1560C>G (p.Gly520=) c.1644C>G (p.Gly548=) c.1482C>G (p.Gly494=) c.1269C>G (p.Gly423=) c.1446C>G (p.Gly482=) c.*785C>G (n.*785C>G) c.1386C>G (p.Gly462=) c.*918C>G (n.*918C>G) c.1201C>G (n.1201C>G) c.*883C>G (n.*883C>G) c.1464C>G (p.Gly488=) c.*744C>G (n.*744C>G) c.1572C>G (p.Gly524=) c.894C>G (p.Gly298=) c.1479C>G (p.Gly493=) c.1348C>G (n.1348C>G) c.156C>G (p.Gly52=) c.729C>G (p.Gly243=) c.1407C>G (p.Gly469=) c.1530C>G (p.Gly510=) c.804C>G (p.Gly268=) c.1410C>G (p.Gly470=) n.2423+2684G>C n.1769C>G | |
10 | g.18539385C>T | CA468628000 | CACNB2,NSUN6 | c.1500C>T (p.Gly500=) c.1365C>T (p.Gly455=) c.1488C>T (p.Gly496=) c.1560C>T (p.Gly520=) c.1644C>T (p.Gly548=) c.1482C>T (p.Gly494=) c.1269C>T (p.Gly423=) c.1446C>T (p.Gly482=) c.*785C>T (n.*785C>T) c.1386C>T (p.Gly462=) c.*918C>T (n.*918C>T) c.1201C>T (n.1201C>T) c.*883C>T (n.*883C>T) c.1464C>T (p.Gly488=) c.*744C>T (n.*744C>T) c.1572C>T (p.Gly524=) c.894C>T (p.Gly298=) c.1479C>T (p.Gly493=) c.1348C>T (n.1348C>T) c.156C>T (p.Gly52=) c.729C>T (p.Gly243=) c.1407C>T (p.Gly469=) c.1530C>T (p.Gly510=) c.804C>T (p.Gly268=) c.1410C>T (p.Gly470=) n.2423+2684G>A n.1769C>T | |
10 | g.18539386C>A | CA376071603 | CACNB2,NSUN6 | c.1501C>A (p.Leu501Ile) c.1366C>A (p.Leu456Ile) c.1489C>A (p.Leu497Ile) c.1561C>A (p.Leu521Ile) c.1645C>A (p.Leu549Ile) c.1483C>A (p.Leu495Ile) c.1270C>A (p.Leu424Ile) c.1447C>A (p.Leu483Ile) c.*786C>A (n.*786C>A) c.1387C>A (p.Leu463Ile) c.*919C>A (n.*919C>A) c.1202C>A (n.1202C>A) c.*884C>A (n.*884C>A) c.1465C>A (p.Leu489Ile) c.*745C>A (n.*745C>A) c.1573C>A (p.Leu525Ile) c.895C>A (p.Leu299Ile) c.1480C>A (p.Leu494Ile) c.1349C>A (n.1349C>A) c.157C>A (p.Leu53Ile) c.730C>A (p.Leu244Ile) c.1408C>A (p.Leu470Ile) c.1531C>A (p.Leu511Ile) c.805C>A (p.Leu269Ile) c.1411C>A (p.Leu471Ile) n.2423+2683G>T n.1770C>A | |
10 | g.18539386C>G | CA376071601 | CACNB2,NSUN6 | c.1501C>G (p.Leu501Val) c.1366C>G (p.Leu456Val) c.1489C>G (p.Leu497Val) c.1561C>G (p.Leu521Val) c.1645C>G (p.Leu549Val) c.1483C>G (p.Leu495Val) c.1270C>G (p.Leu424Val) c.1447C>G (p.Leu483Val) c.*786C>G (n.*786C>G) c.1387C>G (p.Leu463Val) c.*919C>G (n.*919C>G) c.1202C>G (n.1202C>G) c.*884C>G (n.*884C>G) c.1465C>G (p.Leu489Val) c.*745C>G (n.*745C>G) c.1573C>G (p.Leu525Val) c.895C>G (p.Leu299Val) c.1480C>G (p.Leu494Val) c.1349C>G (n.1349C>G) c.157C>G (p.Leu53Val) c.730C>G (p.Leu244Val) c.1408C>G (p.Leu470Val) c.1531C>G (p.Leu511Val) c.805C>G (p.Leu269Val) c.1411C>G (p.Leu471Val) n.2423+2683G>C n.1770C>G | |
10 | g.18539386C>T | CA376071600 | CACNB2,NSUN6 | c.1501C>T (p.Leu501Phe) c.1366C>T (p.Leu456Phe) c.1489C>T (p.Leu497Phe) c.1561C>T (p.Leu521Phe) c.1645C>T (p.Leu549Phe) c.1483C>T (p.Leu495Phe) c.1270C>T (p.Leu424Phe) c.1447C>T (p.Leu483Phe) c.*786C>T (n.*786C>T) c.1387C>T (p.Leu463Phe) c.*919C>T (n.*919C>T) c.1202C>T (n.1202C>T) c.*884C>T (n.*884C>T) c.1465C>T (p.Leu489Phe) c.*745C>T (n.*745C>T) c.1573C>T (p.Leu525Phe) c.895C>T (p.Leu299Phe) c.1480C>T (p.Leu494Phe) c.1349C>T (n.1349C>T) c.157C>T (p.Leu53Phe) c.730C>T (p.Leu244Phe) c.1408C>T (p.Leu470Phe) c.1531C>T (p.Leu511Phe) c.805C>T (p.Leu269Phe) c.1411C>T (p.Leu471Phe) n.2423+2683G>A n.1770C>T | ClinVar |
10 | g.18539387T>A | CA376071605 | CACNB2,NSUN6 | c.1502T>A (p.Leu501His) c.1367T>A (p.Leu456His) c.1490T>A (p.Leu497His) c.1562T>A (p.Leu521His) c.1646T>A (p.Leu549His) c.1484T>A (p.Leu495His) c.1271T>A (p.Leu424His) c.1448T>A (p.Leu483His) c.*787T>A (n.*787T>A) c.1388T>A (p.Leu463His) c.*920T>A (n.*920T>A) c.1203T>A (n.1203T>A) c.*885T>A (n.*885T>A) c.1466T>A (p.Leu489His) c.*746T>A (n.*746T>A) c.1574T>A (p.Leu525His) c.896T>A (p.Leu299His) c.1481T>A (p.Leu494His) c.1350T>A (n.1350T>A) c.158T>A (p.Leu53His) c.731T>A (p.Leu244His) c.1409T>A (p.Leu470His) c.1532T>A (p.Leu511His) c.806T>A (p.Leu269His) c.1412T>A (p.Leu471His) n.2423+2682A>T n.1771T>A | |
10 | g.18539387T>C | CA376071606 | CACNB2,NSUN6 | c.1502T>C (p.Leu501Pro) c.1367T>C (p.Leu456Pro) c.1490T>C (p.Leu497Pro) c.1562T>C (p.Leu521Pro) c.1646T>C (p.Leu549Pro) c.1484T>C (p.Leu495Pro) c.1271T>C (p.Leu424Pro) c.1448T>C (p.Leu483Pro) c.*787T>C (n.*787T>C) c.1388T>C (p.Leu463Pro) c.*920T>C (n.*920T>C) c.1203T>C (n.1203T>C) c.*885T>C (n.*885T>C) c.1466T>C (p.Leu489Pro) c.*746T>C (n.*746T>C) c.1574T>C (p.Leu525Pro) c.896T>C (p.Leu299Pro) c.1481T>C (p.Leu494Pro) c.1350T>C (n.1350T>C) c.158T>C (p.Leu53Pro) c.731T>C (p.Leu244Pro) c.1409T>C (p.Leu470Pro) c.1532T>C (p.Leu511Pro) c.806T>C (p.Leu269Pro) c.1412T>C (p.Leu471Pro) n.2423+2682A>G n.1771T>C | |
10 | g.18539387T>G | CA376071608 | CACNB2,NSUN6 | c.1502T>G (p.Leu501Arg) c.1367T>G (p.Leu456Arg) c.1490T>G (p.Leu497Arg) c.1562T>G (p.Leu521Arg) c.1646T>G (p.Leu549Arg) c.1484T>G (p.Leu495Arg) c.1271T>G (p.Leu424Arg) c.1448T>G (p.Leu483Arg) c.*787T>G (n.*787T>G) c.1388T>G (p.Leu463Arg) c.*920T>G (n.*920T>G) c.1203T>G (n.1203T>G) c.*885T>G (n.*885T>G) c.1466T>G (p.Leu489Arg) c.*746T>G (n.*746T>G) c.1574T>G (p.Leu525Arg) c.896T>G (p.Leu299Arg) c.1481T>G (p.Leu494Arg) c.1350T>G (n.1350T>G) c.158T>G (p.Leu53Arg) c.731T>G (p.Leu244Arg) c.1409T>G (p.Leu470Arg) c.1532T>G (p.Leu511Arg) c.806T>G (p.Leu269Arg) c.1412T>G (p.Leu471Arg) n.2423+2682A>C n.1771T>G | |
10 | g.18539388C>A | CA468628044 | CACNB2,NSUN6 | c.1503C>A (p.Leu501=) c.1368C>A (p.Leu456=) c.1491C>A (p.Leu497=) c.1563C>A (p.Leu521=) c.1647C>A (p.Leu549=) c.1485C>A (p.Leu495=) c.1272C>A (p.Leu424=) c.1449C>A (p.Leu483=) c.*788C>A (n.*788C>A) c.1389C>A (p.Leu463=) c.*921C>A (n.*921C>A) c.1204C>A (n.1204C>A) c.*886C>A (n.*886C>A) c.1467C>A (p.Leu489=) c.*747C>A (n.*747C>A) c.1575C>A (p.Leu525=) c.897C>A (p.Leu299=) c.1482C>A (p.Leu494=) c.1351C>A (n.1351C>A) c.159C>A (p.Leu53=) c.732C>A (p.Leu244=) c.1410C>A (p.Leu470=) c.1533C>A (p.Leu511=) c.807C>A (p.Leu269=) c.1413C>A (p.Leu471=) n.2423+2681G>T n.1772C>A | |
10 | g.18539388C>G | CA468628040 | CACNB2,NSUN6 | c.1503C>G (p.Leu501=) c.1368C>G (p.Leu456=) c.1491C>G (p.Leu497=) c.1563C>G (p.Leu521=) c.1647C>G (p.Leu549=) c.1485C>G (p.Leu495=) c.1272C>G (p.Leu424=) c.1449C>G (p.Leu483=) c.*788C>G (n.*788C>G) c.1389C>G (p.Leu463=) c.*921C>G (n.*921C>G) c.1204C>G (n.1204C>G) c.*886C>G (n.*886C>G) c.1467C>G (p.Leu489=) c.*747C>G (n.*747C>G) c.1575C>G (p.Leu525=) c.897C>G (p.Leu299=) c.1482C>G (p.Leu494=) c.1351C>G (n.1351C>G) c.159C>G (p.Leu53=) c.732C>G (p.Leu244=) c.1410C>G (p.Leu470=) c.1533C>G (p.Leu511=) c.807C>G (p.Leu269=) c.1413C>G (p.Leu471=) n.2423+2681G>C n.1772C>G | |
10 | g.18539388C>T | CA468628034 | CACNB2,NSUN6 | c.1503C>T (p.Leu501=) c.1368C>T (p.Leu456=) c.1491C>T (p.Leu497=) c.1563C>T (p.Leu521=) c.1647C>T (p.Leu549=) c.1485C>T (p.Leu495=) c.1272C>T (p.Leu424=) c.1449C>T (p.Leu483=) c.*788C>T (n.*788C>T) c.1389C>T (p.Leu463=) c.*921C>T (n.*921C>T) c.1204C>T (n.1204C>T) c.*886C>T (n.*886C>T) c.1467C>T (p.Leu489=) c.*747C>T (n.*747C>T) c.1575C>T (p.Leu525=) c.897C>T (p.Leu299=) c.1482C>T (p.Leu494=) c.1351C>T (n.1351C>T) c.159C>T (p.Leu53=) c.732C>T (p.Leu244=) c.1410C>T (p.Leu470=) c.1533C>T (p.Leu511=) c.807C>T (p.Leu269=) c.1413C>T (p.Leu471=) n.2423+2681G>A n.1772C>T | |
10 | g.18539389T>A | CA376071611 | CACNB2,NSUN6 | c.1504T>A (p.Ser502Thr) c.1369T>A (p.Ser457Thr) c.1492T>A (p.Ser498Thr) c.1564T>A (p.Ser522Thr) c.1648T>A (p.Ser550Thr) c.1486T>A (p.Ser496Thr) c.1273T>A (p.Ser425Thr) c.1450T>A (p.Ser484Thr) c.*789T>A (n.*789T>A) c.1390T>A (p.Ser464Thr) c.*922T>A (n.*922T>A) c.1205T>A (n.1205T>A) c.*887T>A (n.*887T>A) c.1468T>A (p.Ser490Thr) c.*748T>A (n.*748T>A) c.1576T>A (p.Ser526Thr) c.898T>A (p.Ser300Thr) c.1483T>A (p.Ser495Thr) c.1352T>A (n.1352T>A) c.160T>A (p.Ser54Thr) c.733T>A (p.Ser245Thr) c.1411T>A (p.Ser471Thr) c.1534T>A (p.Ser512Thr) c.808T>A (p.Ser270Thr) c.1414T>A (p.Ser472Thr) n.2423+2680A>T n.1773T>A | |
10 | g.18539389T>C | CA376071612 | CACNB2,NSUN6 | c.1504T>C (p.Ser502Pro) c.1369T>C (p.Ser457Pro) c.1492T>C (p.Ser498Pro) c.1564T>C (p.Ser522Pro) c.1648T>C (p.Ser550Pro) c.1486T>C (p.Ser496Pro) c.1273T>C (p.Ser425Pro) c.1450T>C (p.Ser484Pro) c.*789T>C (n.*789T>C) c.1390T>C (p.Ser464Pro) c.*922T>C (n.*922T>C) c.1205T>C (n.1205T>C) c.*887T>C (n.*887T>C) c.1468T>C (p.Ser490Pro) c.*748T>C (n.*748T>C) c.1576T>C (p.Ser526Pro) c.898T>C (p.Ser300Pro) c.1483T>C (p.Ser495Pro) c.1352T>C (n.1352T>C) c.160T>C (p.Ser54Pro) c.733T>C (p.Ser245Pro) c.1411T>C (p.Ser471Pro) c.1534T>C (p.Ser512Pro) c.808T>C (p.Ser270Pro) c.1414T>C (p.Ser472Pro) n.2423+2680A>G n.1773T>C | gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
10 | g.18539389T>G | CA376071613 | CACNB2,NSUN6 | c.1504T>G (p.Ser502Ala) c.1369T>G (p.Ser457Ala) c.1492T>G (p.Ser498Ala) c.1564T>G (p.Ser522Ala) c.1648T>G (p.Ser550Ala) c.1486T>G (p.Ser496Ala) c.1273T>G (p.Ser425Ala) c.1450T>G (p.Ser484Ala) c.*789T>G (n.*789T>G) c.1390T>G (p.Ser464Ala) c.*922T>G (n.*922T>G) c.1205T>G (n.1205T>G) c.*887T>G (n.*887T>G) c.1468T>G (p.Ser490Ala) c.*748T>G (n.*748T>G) c.1576T>G (p.Ser526Ala) c.898T>G (p.Ser300Ala) c.1483T>G (p.Ser495Ala) c.1352T>G (n.1352T>G) c.160T>G (p.Ser54Ala) c.733T>G (p.Ser245Ala) c.1411T>G (p.Ser471Ala) c.1534T>G (p.Ser512Ala) c.808T>G (p.Ser270Ala) c.1414T>G (p.Ser472Ala) n.2423+2680A>C n.1773T>G | |
10 | g.18539390C>A | CA376071616 | CACNB2,NSUN6 | c.1505C>A (p.Ser502Tyr) c.1370C>A (p.Ser457Tyr) c.1493C>A (p.Ser498Tyr) c.1565C>A (p.Ser522Tyr) c.1649C>A (p.Ser550Tyr) c.1487C>A (p.Ser496Tyr) c.1274C>A (p.Ser425Tyr) c.1451C>A (p.Ser484Tyr) c.*790C>A (n.*790C>A) c.1391C>A (p.Ser464Tyr) c.*923C>A (n.*923C>A) c.1206C>A (n.1206C>A) c.*888C>A (n.*888C>A) c.1469C>A (p.Ser490Tyr) c.*749C>A (n.*749C>A) c.1577C>A (p.Ser526Tyr) c.899C>A (p.Ser300Tyr) c.1484C>A (p.Ser495Tyr) c.1353C>A (n.1353C>A) c.161C>A (p.Ser54Tyr) c.734C>A (p.Ser245Tyr) c.1412C>A (p.Ser471Tyr) c.1535C>A (p.Ser512Tyr) c.809C>A (p.Ser270Tyr) c.1415C>A (p.Ser472Tyr) n.2423+2679G>T n.1774C>A | |
10 | g.18539390C= | CA1894173270 | CACNB2,NSUN6 | c.1505C= (p.Ser502=) c.1370C= (p.Ser457=) c.1493C= (p.Ser498=) c.1565C= (p.Ser522=) c.1649C= (p.Ser550=) c.1487C= (p.Ser496=) c.1274C= (p.Ser425=) c.1451C= (p.Ser484=) c.*790C= (n.*790C=) c.1391C= (p.Ser464=) c.*923C= (n.*923C=) c.1206C= (n.1206C=) c.*888C= (n.*888C=) c.1469C= (p.Ser490=) c.*749C= (n.*749C=) c.1577C= (p.Ser526=) c.899C= (p.Ser300=) c.1484C= (p.Ser495=) c.1353C= (n.1353C=) c.161C= (p.Ser54=) c.734C= (p.Ser245=) c.1412C= (p.Ser471=) c.1535C= (p.Ser512=) c.809C= (p.Ser270=) c.1415C= (p.Ser472=) n.2423+2679G= n.1774C= | |
10 | g.18539390C>G | CA376071618 | CACNB2,NSUN6 | c.1505C>G (p.Ser502Cys) c.1370C>G (p.Ser457Cys) c.1493C>G (p.Ser498Cys) c.1565C>G (p.Ser522Cys) c.1649C>G (p.Ser550Cys) c.1487C>G (p.Ser496Cys) c.1274C>G (p.Ser425Cys) c.1451C>G (p.Ser484Cys) c.*790C>G (n.*790C>G) c.1391C>G (p.Ser464Cys) c.*923C>G (n.*923C>G) c.1206C>G (n.1206C>G) c.*888C>G (n.*888C>G) c.1469C>G (p.Ser490Cys) c.*749C>G (n.*749C>G) c.1577C>G (p.Ser526Cys) c.899C>G (p.Ser300Cys) c.1484C>G (p.Ser495Cys) c.1353C>G (n.1353C>G) c.161C>G (p.Ser54Cys) c.734C>G (p.Ser245Cys) c.1412C>G (p.Ser471Cys) c.1535C>G (p.Ser512Cys) c.809C>G (p.Ser270Cys) c.1415C>G (p.Ser472Cys) n.2423+2679G>C n.1774C>G | gnomAD v4 |
10 | g.18539390C>T | CA376071617 | CACNB2,NSUN6 | c.1505C>T (p.Ser502Phe) c.1370C>T (p.Ser457Phe) c.1493C>T (p.Ser498Phe) c.1565C>T (p.Ser522Phe) c.1649C>T (p.Ser550Phe) c.1487C>T (p.Ser496Phe) c.1274C>T (p.Ser425Phe) c.1451C>T (p.Ser484Phe) c.*790C>T (n.*790C>T) c.1391C>T (p.Ser464Phe) c.*923C>T (n.*923C>T) c.1206C>T (n.1206C>T) c.*888C>T (n.*888C>T) c.1469C>T (p.Ser490Phe) c.*749C>T (n.*749C>T) c.1577C>T (p.Ser526Phe) c.899C>T (p.Ser300Phe) c.1484C>T (p.Ser495Phe) c.1353C>T (n.1353C>T) c.161C>T (p.Ser54Phe) c.734C>T (p.Ser245Phe) c.1412C>T (p.Ser471Phe) c.1535C>T (p.Ser512Phe) c.809C>T (p.Ser270Phe) c.1415C>T (p.Ser472Phe) n.2423+2679G>A n.1774C>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.18539391del | CA2557146910 | CACNB2,NSUN6 | c.1506del (p.Arg503GlyfsTer18) c.1371del (p.Arg458GlyfsTer18) c.1494del (p.Arg499GlyfsTer18) c.1566del (p.Arg523GlyfsTer18) c.1650del (p.Arg551GlyfsTer18) c.1488del (p.Arg497GlyfsTer18) c.1275del (p.Arg426GlyfsTer18) c.1452del (p.Arg485GlyfsTer18) c.*791del (n.*791del) c.1392del (p.Arg465GlyfsTer18) c.*924del (n.*924del) c.1207del (n.1207del) c.*889del (n.*889del) c.1470del (p.Arg491GlyfsTer18) c.*750del (n.*750del) c.1578del (p.Arg527GlyfsTer18) c.900del (p.Arg301GlyfsTer18) c.1485del (p.Arg496GlyfsTer18) c.1354del (n.1354del) c.162del (p.Arg55GlyfsTer18) c.735del (p.Arg246GlyfsTer18) c.1413del (p.Arg472GlyfsTer18) c.1536del (p.Arg513GlyfsTer18) c.810del (p.Arg271GlyfsTer18) c.1416del (p.Arg473GlyfsTer18) n.2423+2679del n.1775del | |
10 | g.18539391C>A | CA468628075 | CACNB2,NSUN6 | c.1506C>A (p.Ser502=) c.1371C>A (p.Ser457=) c.1494C>A (p.Ser498=) c.1566C>A (p.Ser522=) c.1650C>A (p.Ser550=) c.1488C>A (p.Ser496=) c.1275C>A (p.Ser425=) c.1452C>A (p.Ser484=) c.*791C>A (n.*791C>A) c.1392C>A (p.Ser464=) c.*924C>A (n.*924C>A) c.1207C>A (n.1207C>A) c.*889C>A (n.*889C>A) c.1470C>A (p.Ser490=) c.*750C>A (n.*750C>A) c.1578C>A (p.Ser526=) c.900C>A (p.Ser300=) c.1485C>A (p.Ser495=) c.1354C>A (n.1354C>A) c.162C>A (p.Ser54=) c.735C>A (p.Ser245=) c.1413C>A (p.Ser471=) c.1536C>A (p.Ser512=) c.810C>A (p.Ser270=) c.1416C>A (p.Ser472=) n.2423+2678G>T n.1775C>A | |
10 | g.18539391C= | CA1894173273 | CACNB2,NSUN6 | c.1506C= (p.Ser502=) c.1371C= (p.Ser457=) c.1494C= (p.Ser498=) c.1566C= (p.Ser522=) c.1650C= (p.Ser550=) c.1488C= (p.Ser496=) c.1275C= (p.Ser425=) c.1452C= (p.Ser484=) c.*791C= (n.*791C=) c.1392C= (p.Ser464=) c.*924C= (n.*924C=) c.1207C= (n.1207C=) c.*889C= (n.*889C=) c.1470C= (p.Ser490=) c.*750C= (n.*750C=) c.1578C= (p.Ser526=) c.900C= (p.Ser300=) c.1485C= (p.Ser495=) c.1354C= (n.1354C=) c.162C= (p.Ser54=) c.735C= (p.Ser245=) c.1413C= (p.Ser471=) c.1536C= (p.Ser512=) c.810C= (p.Ser270=) c.1416C= (p.Ser472=) n.2423+2678G= n.1775C= | |
10 | g.18539391C>G | CA468628073 | CACNB2,NSUN6 | c.1506C>G (p.Ser502=) c.1371C>G (p.Ser457=) c.1494C>G (p.Ser498=) c.1566C>G (p.Ser522=) c.1650C>G (p.Ser550=) c.1488C>G (p.Ser496=) c.1275C>G (p.Ser425=) c.1452C>G (p.Ser484=) c.*791C>G (n.*791C>G) c.1392C>G (p.Ser464=) c.*924C>G (n.*924C>G) c.1207C>G (n.1207C>G) c.*889C>G (n.*889C>G) c.1470C>G (p.Ser490=) c.*750C>G (n.*750C>G) c.1578C>G (p.Ser526=) c.900C>G (p.Ser300=) c.1485C>G (p.Ser495=) c.1354C>G (n.1354C>G) c.162C>G (p.Ser54=) c.735C>G (p.Ser245=) c.1413C>G (p.Ser471=) c.1536C>G (p.Ser512=) c.810C>G (p.Ser270=) c.1416C>G (p.Ser472=) n.2423+2678G>C n.1775C>G | |
10 | g.18539391C>T | CA5430119 | CACNB2,NSUN6 | c.1506C>T (p.Ser502=) c.1371C>T (p.Ser457=) c.1494C>T (p.Ser498=) c.1566C>T (p.Ser522=) c.1650C>T (p.Ser550=) c.1488C>T (p.Ser496=) c.1275C>T (p.Ser425=) c.1452C>T (p.Ser484=) c.*791C>T (n.*791C>T) c.1392C>T (p.Ser464=) c.*924C>T (n.*924C>T) c.1207C>T (n.1207C>T) c.*889C>T (n.*889C>T) c.1470C>T (p.Ser490=) c.*750C>T (n.*750C>T) c.1578C>T (p.Ser526=) c.900C>T (p.Ser300=) c.1485C>T (p.Ser495=) c.1354C>T (n.1354C>T) c.162C>T (p.Ser54=) c.735C>T (p.Ser245=) c.1413C>T (p.Ser471=) c.1536C>T (p.Ser512=) c.810C>T (p.Ser270=) c.1416C>T (p.Ser472=) n.2423+2678G>A n.1775C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539392A>C | CA468628080 | CACNB2,NSUN6 | c.1507A>C (p.Arg503=) c.1372A>C (p.Arg458=) c.1495A>C (p.Arg499=) c.1567A>C (p.Arg523=) c.1651A>C (p.Arg551=) c.1489A>C (p.Arg497=) c.1276A>C (p.Arg426=) c.1453A>C (p.Arg485=) c.*792A>C (n.*792A>C) c.1393A>C (p.Arg465=) c.*925A>C (n.*925A>C) c.1208A>C (n.1208A>C) c.*890A>C (n.*890A>C) c.1471A>C (p.Arg491=) c.*751A>C (n.*751A>C) c.1579A>C (p.Arg527=) c.901A>C (p.Arg301=) c.1486A>C (p.Arg496=) c.1355A>C (n.1355A>C) c.163A>C (p.Arg55=) c.736A>C (p.Arg246=) c.1414A>C (p.Arg472=) c.1537A>C (p.Arg513=) c.811A>C (p.Arg271=) c.1417A>C (p.Arg473=) n.2423+2677T>G n.1776A>C | |
10 | g.18539392A>G | CA376071620 | CACNB2,NSUN6 | c.1507A>G (p.Arg503Gly) c.1372A>G (p.Arg458Gly) c.1495A>G (p.Arg499Gly) c.1567A>G (p.Arg523Gly) c.1651A>G (p.Arg551Gly) c.1489A>G (p.Arg497Gly) c.1276A>G (p.Arg426Gly) c.1453A>G (p.Arg485Gly) c.*792A>G (n.*792A>G) c.1393A>G (p.Arg465Gly) c.*925A>G (n.*925A>G) c.1208A>G (n.1208A>G) c.*890A>G (n.*890A>G) c.1471A>G (p.Arg491Gly) c.*751A>G (n.*751A>G) c.1579A>G (p.Arg527Gly) c.901A>G (p.Arg301Gly) c.1486A>G (p.Arg496Gly) c.1355A>G (n.1355A>G) c.163A>G (p.Arg55Gly) c.736A>G (p.Arg246Gly) c.1414A>G (p.Arg472Gly) c.1537A>G (p.Arg513Gly) c.811A>G (p.Arg271Gly) c.1417A>G (p.Arg473Gly) n.2423+2677T>C n.1776A>G | gnomAD v4 |
10 | g.18539392A>T | CA376071622 | CACNB2,NSUN6 | c.1507A>T (p.Arg503Trp) c.1372A>T (p.Arg458Trp) c.1495A>T (p.Arg499Trp) c.1567A>T (p.Arg523Trp) c.1651A>T (p.Arg551Trp) c.1489A>T (p.Arg497Trp) c.1276A>T (p.Arg426Trp) c.1453A>T (p.Arg485Trp) c.*792A>T (n.*792A>T) c.1393A>T (p.Arg465Trp) c.*925A>T (n.*925A>T) c.1208A>T (n.1208A>T) c.*890A>T (n.*890A>T) c.1471A>T (p.Arg491Trp) c.*751A>T (n.*751A>T) c.1579A>T (p.Arg527Trp) c.901A>T (p.Arg301Trp) c.1486A>T (p.Arg496Trp) c.1355A>T (n.1355A>T) c.163A>T (p.Arg55Trp) c.736A>T (p.Arg246Trp) c.1414A>T (p.Arg472Trp) c.1537A>T (p.Arg513Trp) c.811A>T (p.Arg271Trp) c.1417A>T (p.Arg473Trp) n.2423+2677T>A n.1776A>T | |
10 | g.18539393G>A | CA376071625 | CACNB2,NSUN6 | c.1508G>A (p.Arg503Lys) c.1373G>A (p.Arg458Lys) c.1496G>A (p.Arg499Lys) c.1568G>A (p.Arg523Lys) c.1652G>A (p.Arg551Lys) c.1490G>A (p.Arg497Lys) c.1277G>A (p.Arg426Lys) c.1454G>A (p.Arg485Lys) c.*793G>A (n.*793G>A) c.1394G>A (p.Arg465Lys) c.*926G>A (n.*926G>A) c.1209G>A (n.1209G>A) c.*891G>A (n.*891G>A) c.1472G>A (p.Arg491Lys) c.*752G>A (n.*752G>A) c.1580G>A (p.Arg527Lys) c.902G>A (p.Arg301Lys) c.1487G>A (p.Arg496Lys) c.1356G>A (n.1356G>A) c.164G>A (p.Arg55Lys) c.737G>A (p.Arg246Lys) c.1415G>A (p.Arg472Lys) c.1538G>A (p.Arg513Lys) c.812G>A (p.Arg271Lys) c.1418G>A (p.Arg473Lys) n.2423+2676C>T n.1777G>A | gnomAD v4 |
10 | g.18539393G>C | CA376071626 | CACNB2,NSUN6 | c.1508G>C (p.Arg503Thr) c.1373G>C (p.Arg458Thr) c.1496G>C (p.Arg499Thr) c.1568G>C (p.Arg523Thr) c.1652G>C (p.Arg551Thr) c.1490G>C (p.Arg497Thr) c.1277G>C (p.Arg426Thr) c.1454G>C (p.Arg485Thr) c.*793G>C (n.*793G>C) c.1394G>C (p.Arg465Thr) c.*926G>C (n.*926G>C) c.1209G>C (n.1209G>C) c.*891G>C (n.*891G>C) c.1472G>C (p.Arg491Thr) c.*752G>C (n.*752G>C) c.1580G>C (p.Arg527Thr) c.902G>C (p.Arg301Thr) c.1487G>C (p.Arg496Thr) c.1356G>C (n.1356G>C) c.164G>C (p.Arg55Thr) c.737G>C (p.Arg246Thr) c.1415G>C (p.Arg472Thr) c.1538G>C (p.Arg513Thr) c.812G>C (p.Arg271Thr) c.1418G>C (p.Arg473Thr) n.2423+2676C>G n.1777G>C | |
10 | g.18539393G>T | CA376071627 | CACNB2,NSUN6 | c.1508G>T (p.Arg503Met) c.1373G>T (p.Arg458Met) c.1496G>T (p.Arg499Met) c.1568G>T (p.Arg523Met) c.1652G>T (p.Arg551Met) c.1490G>T (p.Arg497Met) c.1277G>T (p.Arg426Met) c.1454G>T (p.Arg485Met) c.*793G>T (n.*793G>T) c.1394G>T (p.Arg465Met) c.*926G>T (n.*926G>T) c.1209G>T (n.1209G>T) c.*891G>T (n.*891G>T) c.1472G>T (p.Arg491Met) c.*752G>T (n.*752G>T) c.1580G>T (p.Arg527Met) c.902G>T (p.Arg301Met) c.1487G>T (p.Arg496Met) c.1356G>T (n.1356G>T) c.164G>T (p.Arg55Met) c.737G>T (p.Arg246Met) c.1415G>T (p.Arg472Met) c.1538G>T (p.Arg513Met) c.812G>T (p.Arg271Met) c.1418G>T (p.Arg473Met) n.2423+2676C>A n.1777G>T | gnomAD v4 |
10 | g.18539394G>A | CA468628110 | CACNB2,NSUN6 | c.1509G>A (p.Arg503=) c.1374G>A (p.Arg458=) c.1497G>A (p.Arg499=) c.1569G>A (p.Arg523=) c.1653G>A (p.Arg551=) c.1491G>A (p.Arg497=) c.1278G>A (p.Arg426=) c.1455G>A (p.Arg485=) c.*794G>A (n.*794G>A) c.1395G>A (p.Arg465=) c.*927G>A (n.*927G>A) c.1210G>A (n.1210G>A) c.*892G>A (n.*892G>A) c.1473G>A (p.Arg491=) c.*753G>A (n.*753G>A) c.1581G>A (p.Arg527=) c.903G>A (p.Arg301=) c.1488G>A (p.Arg496=) c.1357G>A (n.1357G>A) c.165G>A (p.Arg55=) c.738G>A (p.Arg246=) c.1416G>A (p.Arg472=) c.1539G>A (p.Arg513=) c.813G>A (p.Arg271=) c.1419G>A (p.Arg473=) n.2423+2675C>T n.1778G>A | dbSNP |
10 | g.18539394G>C | CA203167201 | CACNB2,NSUN6 | c.1509G>C (p.Arg503Ser) c.1374G>C (p.Arg458Ser) c.1497G>C (p.Arg499Ser) c.1569G>C (p.Arg523Ser) c.1653G>C (p.Arg551Ser) c.1491G>C (p.Arg497Ser) c.1278G>C (p.Arg426Ser) c.1455G>C (p.Arg485Ser) c.*794G>C (n.*794G>C) c.1395G>C (p.Arg465Ser) c.*927G>C (n.*927G>C) c.1210G>C (n.1210G>C) c.*892G>C (n.*892G>C) c.1473G>C (p.Arg491Ser) c.*753G>C (n.*753G>C) c.1581G>C (p.Arg527Ser) c.903G>C (p.Arg301Ser) c.1488G>C (p.Arg496Ser) c.1357G>C (n.1357G>C) c.165G>C (p.Arg55Ser) c.738G>C (p.Arg246Ser) c.1416G>C (p.Arg472Ser) c.1539G>C (p.Arg513Ser) c.813G>C (p.Arg271Ser) c.1419G>C (p.Arg473Ser) n.2423+2675C>G n.1778G>C | dbSNP gnomAD v4 |
10 | g.18539394G= | CA1894173278 | CACNB2,NSUN6 | c.1509G= (p.Arg503=) c.1374G= (p.Arg458=) c.1497G= (p.Arg499=) c.1569G= (p.Arg523=) c.1653G= (p.Arg551=) c.1491G= (p.Arg497=) c.1278G= (p.Arg426=) c.1455G= (p.Arg485=) c.*794G= (n.*794G=) c.1395G= (p.Arg465=) c.*927G= (n.*927G=) c.1210G= (n.1210G=) c.*892G= (n.*892G=) c.1473G= (p.Arg491=) c.*753G= (n.*753G=) c.1581G= (p.Arg527=) c.903G= (p.Arg301=) c.1488G= (p.Arg496=) c.1357G= (n.1357G=) c.165G= (p.Arg55=) c.738G= (p.Arg246=) c.1416G= (p.Arg472=) c.1539G= (p.Arg513=) c.813G= (p.Arg271=) c.1419G= (p.Arg473=) n.2423+2675C= n.1778G= | |
10 | g.18539394G>T | CA376071628 | CACNB2,NSUN6 | c.1509G>T (p.Arg503Ser) c.1374G>T (p.Arg458Ser) c.1497G>T (p.Arg499Ser) c.1569G>T (p.Arg523Ser) c.1653G>T (p.Arg551Ser) c.1491G>T (p.Arg497Ser) c.1278G>T (p.Arg426Ser) c.1455G>T (p.Arg485Ser) c.*794G>T (n.*794G>T) c.1395G>T (p.Arg465Ser) c.*927G>T (n.*927G>T) c.1210G>T (n.1210G>T) c.*892G>T (n.*892G>T) c.1473G>T (p.Arg491Ser) c.*753G>T (n.*753G>T) c.1581G>T (p.Arg527Ser) c.903G>T (p.Arg301Ser) c.1488G>T (p.Arg496Ser) c.1357G>T (n.1357G>T) c.165G>T (p.Arg55Ser) c.738G>T (p.Arg246Ser) c.1416G>T (p.Arg472Ser) c.1539G>T (p.Arg513Ser) c.813G>T (p.Arg271Ser) c.1419G>T (p.Arg473Ser) n.2423+2675C>A n.1778G>T | |
10 | g.18539395C>A | CA376071630 | CACNB2,NSUN6 | c.1510C>A (p.Gln504Lys) c.1375C>A (p.Gln459Lys) c.1498C>A (p.Gln500Lys) c.1570C>A (p.Gln524Lys) c.1654C>A (p.Gln552Lys) c.1492C>A (p.Gln498Lys) c.1279C>A (p.Gln427Lys) c.1456C>A (p.Gln486Lys) c.*795C>A (n.*795C>A) c.1396C>A (p.Gln466Lys) c.*928C>A (n.*928C>A) c.1211C>A (n.1211C>A) c.*893C>A (n.*893C>A) c.1474C>A (p.Gln492Lys) c.*754C>A (n.*754C>A) c.1582C>A (p.Gln528Lys) c.904C>A (p.Gln302Lys) c.1489C>A (p.Gln497Lys) c.1358C>A (n.1358C>A) c.166C>A (p.Gln56Lys) c.739C>A (p.Gln247Lys) c.1417C>A (p.Gln473Lys) c.1540C>A (p.Gln514Lys) c.814C>A (p.Gln272Lys) c.1420C>A (p.Gln474Lys) n.2423+2674G>T n.1779C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539395C= | CA1894173282 | CACNB2,NSUN6 | c.1510C= (p.Gln504=) c.1375C= (p.Gln459=) c.1498C= (p.Gln500=) c.1570C= (p.Gln524=) c.1654C= (p.Gln552=) c.1492C= (p.Gln498=) c.1279C= (p.Gln427=) c.1456C= (p.Gln486=) c.*795C= (n.*795C=) c.1396C= (p.Gln466=) c.*928C= (n.*928C=) c.1211C= (n.1211C=) c.*893C= (n.*893C=) c.1474C= (p.Gln492=) c.*754C= (n.*754C=) c.1582C= (p.Gln528=) c.904C= (p.Gln302=) c.1489C= (p.Gln497=) c.1358C= (n.1358C=) c.166C= (p.Gln56=) c.739C= (p.Gln247=) c.1417C= (p.Gln473=) c.1540C= (p.Gln514=) c.814C= (p.Gln272=) c.1420C= (p.Gln474=) n.2423+2674G= n.1779C= | |
10 | g.18539395C>G | CA376071631 | CACNB2,NSUN6 | c.1510C>G (p.Gln504Glu) c.1375C>G (p.Gln459Glu) c.1498C>G (p.Gln500Glu) c.1570C>G (p.Gln524Glu) c.1654C>G (p.Gln552Glu) c.1492C>G (p.Gln498Glu) c.1279C>G (p.Gln427Glu) c.1456C>G (p.Gln486Glu) c.*795C>G (n.*795C>G) c.1396C>G (p.Gln466Glu) c.*928C>G (n.*928C>G) c.1211C>G (n.1211C>G) c.*893C>G (n.*893C>G) c.1474C>G (p.Gln492Glu) c.*754C>G (n.*754C>G) c.1582C>G (p.Gln528Glu) c.904C>G (p.Gln302Glu) c.1489C>G (p.Gln497Glu) c.1358C>G (n.1358C>G) c.166C>G (p.Gln56Glu) c.739C>G (p.Gln247Glu) c.1417C>G (p.Gln473Glu) c.1540C>G (p.Gln514Glu) c.814C>G (p.Gln272Glu) c.1420C>G (p.Gln474Glu) n.2423+2674G>C n.1779C>G | |
10 | g.18539395C>T | CA376071632 | CACNB2,NSUN6 | c.1510C>T (p.Gln504Ter) c.1375C>T (p.Gln459Ter) c.1498C>T (p.Gln500Ter) c.1570C>T (p.Gln524Ter) c.1654C>T (p.Gln552Ter) c.1492C>T (p.Gln498Ter) c.1279C>T (p.Gln427Ter) c.1456C>T (p.Gln486Ter) c.*795C>T (n.*795C>T) c.1396C>T (p.Gln466Ter) c.*928C>T (n.*928C>T) c.1211C>T (n.1211C>T) c.*893C>T (n.*893C>T) c.1474C>T (p.Gln492Ter) c.*754C>T (n.*754C>T) c.1582C>T (p.Gln528Ter) c.904C>T (p.Gln302Ter) c.1489C>T (p.Gln497Ter) c.1358C>T (n.1358C>T) c.166C>T (p.Gln56Ter) c.739C>T (p.Gln247Ter) c.1417C>T (p.Gln473Ter) c.1540C>T (p.Gln514Ter) c.814C>T (p.Gln272Ter) c.1420C>T (p.Gln474Ter) n.2423+2674G>A n.1779C>T | dbSNP |
10 | g.18539396A= | CA1894173287 | CACNB2,NSUN6 | c.1511A= (p.Gln504=) c.1376A= (p.Gln459=) c.1499A= (p.Gln500=) c.1571A= (p.Gln524=) c.1655A= (p.Gln552=) c.1493A= (p.Gln498=) c.1280A= (p.Gln427=) c.1457A= (p.Gln486=) c.*796A= (n.*796A=) c.1397A= (p.Gln466=) c.*929A= (n.*929A=) c.1212A= (n.1212A=) c.*894A= (n.*894A=) c.1475A= (p.Gln492=) c.*755A= (n.*755A=) c.1583A= (p.Gln528=) c.905A= (p.Gln302=) c.1490A= (p.Gln497=) c.1359A= (n.1359A=) c.167A= (p.Gln56=) c.740A= (p.Gln247=) c.1418A= (p.Gln473=) c.1541A= (p.Gln514=) c.815A= (p.Gln272=) c.1421A= (p.Gln474=) n.2423+2673T= n.1780A= | |
10 | g.18539396A>C | CA376071634 | CACNB2,NSUN6 | c.1511A>C (p.Gln504Pro) c.1376A>C (p.Gln459Pro) c.1499A>C (p.Gln500Pro) c.1571A>C (p.Gln524Pro) c.1655A>C (p.Gln552Pro) c.1493A>C (p.Gln498Pro) c.1280A>C (p.Gln427Pro) c.1457A>C (p.Gln486Pro) c.*796A>C (n.*796A>C) c.1397A>C (p.Gln466Pro) c.*929A>C (n.*929A>C) c.1212A>C (n.1212A>C) c.*894A>C (n.*894A>C) c.1475A>C (p.Gln492Pro) c.*755A>C (n.*755A>C) c.1583A>C (p.Gln528Pro) c.905A>C (p.Gln302Pro) c.1490A>C (p.Gln497Pro) c.1359A>C (n.1359A>C) c.167A>C (p.Gln56Pro) c.740A>C (p.Gln247Pro) c.1418A>C (p.Gln473Pro) c.1541A>C (p.Gln514Pro) c.815A>C (p.Gln272Pro) c.1421A>C (p.Gln474Pro) n.2423+2673T>G n.1780A>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.18539396A>G | CA376071637 | CACNB2,NSUN6 | c.1511A>G (p.Gln504Arg) c.1376A>G (p.Gln459Arg) c.1499A>G (p.Gln500Arg) c.1571A>G (p.Gln524Arg) c.1655A>G (p.Gln552Arg) c.1493A>G (p.Gln498Arg) c.1280A>G (p.Gln427Arg) c.1457A>G (p.Gln486Arg) c.*796A>G (n.*796A>G) c.1397A>G (p.Gln466Arg) c.*929A>G (n.*929A>G) c.1212A>G (n.1212A>G) c.*894A>G (n.*894A>G) c.1475A>G (p.Gln492Arg) c.*755A>G (n.*755A>G) c.1583A>G (p.Gln528Arg) c.905A>G (p.Gln302Arg) c.1490A>G (p.Gln497Arg) c.1359A>G (n.1359A>G) c.167A>G (p.Gln56Arg) c.740A>G (p.Gln247Arg) c.1418A>G (p.Gln473Arg) c.1541A>G (p.Gln514Arg) c.815A>G (p.Gln272Arg) c.1421A>G (p.Gln474Arg) n.2423+2673T>C n.1780A>G | |
10 | g.18539396A>T | CA376071635 | CACNB2,NSUN6 | c.1511A>T (p.Gln504Leu) c.1376A>T (p.Gln459Leu) c.1499A>T (p.Gln500Leu) c.1571A>T (p.Gln524Leu) c.1655A>T (p.Gln552Leu) c.1493A>T (p.Gln498Leu) c.1280A>T (p.Gln427Leu) c.1457A>T (p.Gln486Leu) c.*796A>T (n.*796A>T) c.1397A>T (p.Gln466Leu) c.*929A>T (n.*929A>T) c.1212A>T (n.1212A>T) c.*894A>T (n.*894A>T) c.1475A>T (p.Gln492Leu) c.*755A>T (n.*755A>T) c.1583A>T (p.Gln528Leu) c.905A>T (p.Gln302Leu) c.1490A>T (p.Gln497Leu) c.1359A>T (n.1359A>T) c.167A>T (p.Gln56Leu) c.740A>T (p.Gln247Leu) c.1418A>T (p.Gln473Leu) c.1541A>T (p.Gln514Leu) c.815A>T (p.Gln272Leu) c.1421A>T (p.Gln474Leu) n.2423+2673T>A n.1780A>T | |
10 | g.18539397A>C | CA376071638 | CACNB2,NSUN6 | c.1512A>C (p.Gln504His) c.1377A>C (p.Gln459His) c.1500A>C (p.Gln500His) c.1572A>C (p.Gln524His) c.1656A>C (p.Gln552His) c.1494A>C (p.Gln498His) c.1281A>C (p.Gln427His) c.1458A>C (p.Gln486His) c.*797A>C (n.*797A>C) c.1398A>C (p.Gln466His) c.*930A>C (n.*930A>C) c.1213A>C (n.1213A>C) c.*895A>C (n.*895A>C) c.1476A>C (p.Gln492His) c.*756A>C (n.*756A>C) c.1584A>C (p.Gln528His) c.906A>C (p.Gln302His) c.1491A>C (p.Gln497His) c.1360A>C (n.1360A>C) c.168A>C (p.Gln56His) c.741A>C (p.Gln247His) c.1419A>C (p.Gln473His) c.1542A>C (p.Gln514His) c.816A>C (p.Gln272His) c.1422A>C (p.Gln474His) n.2423+2672T>G n.1781A>C | |
10 | g.18539397A>G | CA468628134 | CACNB2,NSUN6 | c.1512A>G (p.Gln504=) c.1377A>G (p.Gln459=) c.1500A>G (p.Gln500=) c.1572A>G (p.Gln524=) c.1656A>G (p.Gln552=) c.1494A>G (p.Gln498=) c.1281A>G (p.Gln427=) c.1458A>G (p.Gln486=) c.*797A>G (n.*797A>G) c.1398A>G (p.Gln466=) c.*930A>G (n.*930A>G) c.1213A>G (n.1213A>G) c.*895A>G (n.*895A>G) c.1476A>G (p.Gln492=) c.*756A>G (n.*756A>G) c.1584A>G (p.Gln528=) c.906A>G (p.Gln302=) c.1491A>G (p.Gln497=) c.1360A>G (n.1360A>G) c.168A>G (p.Gln56=) c.741A>G (p.Gln247=) c.1419A>G (p.Gln473=) c.1542A>G (p.Gln514=) c.816A>G (p.Gln272=) c.1422A>G (p.Gln474=) n.2423+2672T>C n.1781A>G | gnomAD v4 |
10 | g.18539397A>T | CA376071639 | CACNB2,NSUN6 | c.1512A>T (p.Gln504His) c.1377A>T (p.Gln459His) c.1500A>T (p.Gln500His) c.1572A>T (p.Gln524His) c.1656A>T (p.Gln552His) c.1494A>T (p.Gln498His) c.1281A>T (p.Gln427His) c.1458A>T (p.Gln486His) c.*797A>T (n.*797A>T) c.1398A>T (p.Gln466His) c.*930A>T (n.*930A>T) c.1213A>T (n.1213A>T) c.*895A>T (n.*895A>T) c.1476A>T (p.Gln492His) c.*756A>T (n.*756A>T) c.1584A>T (p.Gln528His) c.906A>T (p.Gln302His) c.1491A>T (p.Gln497His) c.1360A>T (n.1360A>T) c.168A>T (p.Gln56His) c.741A>T (p.Gln247His) c.1419A>T (p.Gln473His) c.1542A>T (p.Gln514His) c.816A>T (p.Gln272His) c.1422A>T (p.Gln474His) n.2423+2672T>A n.1781A>T | |
10 | g.18539398_18539401dup | CA662520394 | CACNB2,NSUN6 | c.1513_1516dup (p.Thr506ArgfsTer4) c.1378_1381dup (p.Thr461ArgfsTer4) c.1501_1504dup (p.Thr502ArgfsTer4) c.1573_1576dup (p.Thr526ArgfsTer4) c.1657_1660dup (p.Thr554ArgfsTer4) c.1495_1498dup (p.Thr500ArgfsTer4) c.1282_1285dup (p.Thr429ArgfsTer4) c.1459_1462dup (p.Thr488ArgfsTer4) c.*798_*801dup (n.*798_*801dup) c.1399_1402dup (p.Thr468ArgfsTer4) c.*931_*934dup (n.*931_*934dup) c.1214_1217dup (n.1214_1217dup) c.*896_*899dup (n.*896_*899dup) c.1477_1480dup (p.Thr494ArgfsTer4) c.*757_*760dup (n.*757_*760dup) c.1585_1588dup (p.Thr530ArgfsTer4) c.907_910dup (p.Thr304ArgfsTer4) c.1492_1495dup (p.Thr499ArgfsTer4) c.1361_1364dup (n.1361_1364dup) c.169_172dup (p.Thr58ArgfsTer4) c.742_745dup (p.Thr249ArgfsTer4) c.1420_1423dup (p.Thr475ArgfsTer4) c.1543_1546dup (p.Thr516ArgfsTer4) c.817_820dup (p.Thr274ArgfsTer4) c.1423_1426dup (p.Thr476ArgfsTer4) n.2423+2669_2423+2672dup n.1782_1785dup | dbSNP |
10 | g.18539400_18539401del | CA2608435601 | CACNB2,NSUN6 | c.1515_1516del (p.Glu505AspfsTer3) c.1380_1381del (p.Glu460AspfsTer3) c.1503_1504del (p.Glu501AspfsTer3) c.1575_1576del (p.Glu525AspfsTer3) c.1659_1660del (p.Glu553AspfsTer3) c.1497_1498del (p.Glu499AspfsTer3) c.1284_1285del (p.Glu428AspfsTer3) c.1461_1462del (p.Glu487AspfsTer3) c.*800_*801del (n.*800_*801del) c.1401_1402del (p.Glu467AspfsTer3) c.*933_*934del (n.*933_*934del) c.1216_1217del (n.1216_1217del) c.*898_*899del (n.*898_*899del) c.1479_1480del (p.Glu493AspfsTer3) c.*759_*760del (n.*759_*760del) c.1587_1588del (p.Glu529AspfsTer3) c.909_910del (p.Glu303AspfsTer3) c.1494_1495del (p.Glu498AspfsTer3) c.1363_1364del (n.1363_1364del) c.171_172del (p.Glu57AspfsTer3) c.744_745del (p.Glu248AspfsTer3) c.1422_1423del (p.Glu474AspfsTer3) c.1545_1546del (p.Glu515AspfsTer3) c.819_820del (p.Glu273AspfsTer3) c.1425_1426del (p.Glu475AspfsTer3) n.2423+2671_2423+2672del n.1784_1785del | gnomAD v4 |
10 | g.18539398G>A | CA376071641 | CACNB2,NSUN6 | c.1513G>A (p.Glu505Lys) c.1378G>A (p.Glu460Lys) c.1501G>A (p.Glu501Lys) c.1573G>A (p.Glu525Lys) c.1657G>A (p.Glu553Lys) c.1495G>A (p.Glu499Lys) c.1282G>A (p.Glu428Lys) c.1459G>A (p.Glu487Lys) c.*798G>A (n.*798G>A) c.1399G>A (p.Glu467Lys) c.*931G>A (n.*931G>A) c.1214G>A (n.1214G>A) c.*896G>A (n.*896G>A) c.1477G>A (p.Glu493Lys) c.*757G>A (n.*757G>A) c.1585G>A (p.Glu529Lys) c.907G>A (p.Glu303Lys) c.1492G>A (p.Glu498Lys) c.1361G>A (n.1361G>A) c.169G>A (p.Glu57Lys) c.742G>A (p.Glu248Lys) c.1420G>A (p.Glu474Lys) c.1543G>A (p.Glu515Lys) c.817G>A (p.Glu273Lys) c.1423G>A (p.Glu475Lys) n.2423+2671C>T n.1782G>A | ClinVar COSMIC COSMIC COSMIC COSMIC COSMIC |
10 | g.18539398G>C | CA5430120 | CACNB2,NSUN6 | c.1513G>C (p.Glu505Gln) c.1378G>C (p.Glu460Gln) c.1501G>C (p.Glu501Gln) c.1573G>C (p.Glu525Gln) c.1657G>C (p.Glu553Gln) c.1495G>C (p.Glu499Gln) c.1282G>C (p.Glu428Gln) c.1459G>C (p.Glu487Gln) c.*798G>C (n.*798G>C) c.1399G>C (p.Glu467Gln) c.*931G>C (n.*931G>C) c.1214G>C (n.1214G>C) c.*896G>C (n.*896G>C) c.1477G>C (p.Glu493Gln) c.*757G>C (n.*757G>C) c.1585G>C (p.Glu529Gln) c.907G>C (p.Glu303Gln) c.1492G>C (p.Glu498Gln) c.1361G>C (n.1361G>C) c.169G>C (p.Glu57Gln) c.742G>C (p.Glu248Gln) c.1420G>C (p.Glu474Gln) c.1543G>C (p.Glu515Gln) c.817G>C (p.Glu273Gln) c.1423G>C (p.Glu475Gln) n.2423+2671C>G n.1782G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539398G= | CA1894173292 | CACNB2,NSUN6 | c.1513G= (p.Glu505=) c.1378G= (p.Glu460=) c.1501G= (p.Glu501=) c.1573G= (p.Glu525=) c.1657G= (p.Glu553=) c.1495G= (p.Glu499=) c.1282G= (p.Glu428=) c.1459G= (p.Glu487=) c.*798G= (n.*798G=) c.1399G= (p.Glu467=) c.*931G= (n.*931G=) c.1214G= (n.1214G=) c.*896G= (n.*896G=) c.1477G= (p.Glu493=) c.*757G= (n.*757G=) c.1585G= (p.Glu529=) c.907G= (p.Glu303=) c.1492G= (p.Glu498=) c.1361G= (n.1361G=) c.169G= (p.Glu57=) c.742G= (p.Glu248=) c.1420G= (p.Glu474=) c.1543G= (p.Glu515=) c.817G= (p.Glu273=) c.1423G= (p.Glu475=) n.2423+2671C= n.1782G= | |
10 | g.18539398G>T | CA376071643 | CACNB2,NSUN6 | c.1513G>T (p.Glu505Ter) c.1378G>T (p.Glu460Ter) c.1501G>T (p.Glu501Ter) c.1573G>T (p.Glu525Ter) c.1657G>T (p.Glu553Ter) c.1495G>T (p.Glu499Ter) c.1282G>T (p.Glu428Ter) c.1459G>T (p.Glu487Ter) c.*798G>T (n.*798G>T) c.1399G>T (p.Glu467Ter) c.*931G>T (n.*931G>T) c.1214G>T (n.1214G>T) c.*896G>T (n.*896G>T) c.1477G>T (p.Glu493Ter) c.*757G>T (n.*757G>T) c.1585G>T (p.Glu529Ter) c.907G>T (p.Glu303Ter) c.1492G>T (p.Glu498Ter) c.1361G>T (n.1361G>T) c.169G>T (p.Glu57Ter) c.742G>T (p.Glu248Ter) c.1420G>T (p.Glu474Ter) c.1543G>T (p.Glu515Ter) c.817G>T (p.Glu273Ter) c.1423G>T (p.Glu475Ter) n.2423+2671C>A n.1782G>T | dbSNP |
10 | g.18539399A>C | CA376071645 | CACNB2,NSUN6 | c.1514A>C (p.Glu505Ala) c.1379A>C (p.Glu460Ala) c.1502A>C (p.Glu501Ala) c.1574A>C (p.Glu525Ala) c.1658A>C (p.Glu553Ala) c.1496A>C (p.Glu499Ala) c.1283A>C (p.Glu428Ala) c.1460A>C (p.Glu487Ala) c.*799A>C (n.*799A>C) c.1400A>C (p.Glu467Ala) c.*932A>C (n.*932A>C) c.1215A>C (n.1215A>C) c.*897A>C (n.*897A>C) c.1478A>C (p.Glu493Ala) c.*758A>C (n.*758A>C) c.1586A>C (p.Glu529Ala) c.908A>C (p.Glu303Ala) c.1493A>C (p.Glu498Ala) c.1362A>C (n.1362A>C) c.170A>C (p.Glu57Ala) c.743A>C (p.Glu248Ala) c.1421A>C (p.Glu474Ala) c.1544A>C (p.Glu515Ala) c.818A>C (p.Glu273Ala) c.1424A>C (p.Glu475Ala) n.2423+2670T>G n.1783A>C | |
10 | g.18539399A>G | CA376071646 | CACNB2,NSUN6 | c.1514A>G (p.Glu505Gly) c.1379A>G (p.Glu460Gly) c.1502A>G (p.Glu501Gly) c.1574A>G (p.Glu525Gly) c.1658A>G (p.Glu553Gly) c.1496A>G (p.Glu499Gly) c.1283A>G (p.Glu428Gly) c.1460A>G (p.Glu487Gly) c.*799A>G (n.*799A>G) c.1400A>G (p.Glu467Gly) c.*932A>G (n.*932A>G) c.1215A>G (n.1215A>G) c.*897A>G (n.*897A>G) c.1478A>G (p.Glu493Gly) c.*758A>G (n.*758A>G) c.1586A>G (p.Glu529Gly) c.908A>G (p.Glu303Gly) c.1493A>G (p.Glu498Gly) c.1362A>G (n.1362A>G) c.170A>G (p.Glu57Gly) c.743A>G (p.Glu248Gly) c.1421A>G (p.Glu474Gly) c.1544A>G (p.Glu515Gly) c.818A>G (p.Glu273Gly) c.1424A>G (p.Glu475Gly) n.2423+2670T>C n.1783A>G | |
10 | g.18539399A>T | CA376071648 | CACNB2,NSUN6 | c.1514A>T (p.Glu505Val) c.1379A>T (p.Glu460Val) c.1502A>T (p.Glu501Val) c.1574A>T (p.Glu525Val) c.1658A>T (p.Glu553Val) c.1496A>T (p.Glu499Val) c.1283A>T (p.Glu428Val) c.1460A>T (p.Glu487Val) c.*799A>T (n.*799A>T) c.1400A>T (p.Glu467Val) c.*932A>T (n.*932A>T) c.1215A>T (n.1215A>T) c.*897A>T (n.*897A>T) c.1478A>T (p.Glu493Val) c.*758A>T (n.*758A>T) c.1586A>T (p.Glu529Val) c.908A>T (p.Glu303Val) c.1493A>T (p.Glu498Val) c.1362A>T (n.1362A>T) c.170A>T (p.Glu57Val) c.743A>T (p.Glu248Val) c.1421A>T (p.Glu474Val) c.1544A>T (p.Glu515Val) c.818A>T (p.Glu273Val) c.1424A>T (p.Glu475Val) n.2423+2670T>A n.1783A>T | |
10 | g.18539400_18539403dup | CA592060476 | CACNB2,NSUN6 | c.1515_1518dup (p.Phe507AspfsTer3) c.1380_1383dup (p.Phe462AspfsTer3) c.1503_1506dup (p.Phe503AspfsTer3) c.1575_1578dup (p.Phe527AspfsTer3) c.1659_1662dup (p.Phe555AspfsTer3) c.1497_1500dup (p.Phe501AspfsTer3) c.1284_1287dup (p.Phe430AspfsTer3) c.1461_1464dup (p.Phe489AspfsTer3) c.*800_*803dup (n.*800_*803dup) c.1401_1404dup (p.Phe469AspfsTer3) c.*933_*936dup (n.*933_*936dup) c.1216_1219dup (n.1216_1219dup) c.*898_*901dup (n.*898_*901dup) c.1479_1482dup (p.Phe495AspfsTer3) c.*759_*762dup (n.*759_*762dup) c.1587_1590dup (p.Phe531AspfsTer3) c.909_912dup (p.Phe305AspfsTer3) c.1494_1497dup (p.Phe500AspfsTer3) c.1363_1366dup (n.1363_1366dup) c.171_174dup (p.Phe59AspfsTer3) c.744_747dup (p.Phe250AspfsTer3) c.1422_1425dup (p.Phe476AspfsTer3) c.1545_1548dup (p.Phe517AspfsTer3) c.819_822dup (p.Phe275AspfsTer3) c.1425_1428dup (p.Phe477AspfsTer3) n.2423+2667_2423+2670dup n.1784_1787dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.18539400G>A | CA468628153 | CACNB2,NSUN6 | c.1515G>A (p.Glu505=) c.1380G>A (p.Glu460=) c.1503G>A (p.Glu501=) c.1575G>A (p.Glu525=) c.1659G>A (p.Glu553=) c.1497G>A (p.Glu499=) c.1284G>A (p.Glu428=) c.1461G>A (p.Glu487=) c.*800G>A (n.*800G>A) c.1401G>A (p.Glu467=) c.*933G>A (n.*933G>A) c.1216G>A (n.1216G>A) c.*898G>A (n.*898G>A) c.1479G>A (p.Glu493=) c.*759G>A (n.*759G>A) c.1587G>A (p.Glu529=) c.909G>A (p.Glu303=) c.1494G>A (p.Glu498=) c.1363G>A (n.1363G>A) c.171G>A (p.Glu57=) c.744G>A (p.Glu248=) c.1422G>A (p.Glu474=) c.1545G>A (p.Glu515=) c.819G>A (p.Glu273=) c.1425G>A (p.Glu475=) n.2423+2669C>T n.1784G>A | |
10 | g.18539400G>C | CA5430121 | CACNB2,NSUN6 | c.1515G>C (p.Glu505Asp) c.1380G>C (p.Glu460Asp) c.1503G>C (p.Glu501Asp) c.1575G>C (p.Glu525Asp) c.1659G>C (p.Glu553Asp) c.1497G>C (p.Glu499Asp) c.1284G>C (p.Glu428Asp) c.1461G>C (p.Glu487Asp) c.*800G>C (n.*800G>C) c.1401G>C (p.Glu467Asp) c.*933G>C (n.*933G>C) c.1216G>C (n.1216G>C) c.*898G>C (n.*898G>C) c.1479G>C (p.Glu493Asp) c.*759G>C (n.*759G>C) c.1587G>C (p.Glu529Asp) c.909G>C (p.Glu303Asp) c.1494G>C (p.Glu498Asp) c.1363G>C (n.1363G>C) c.171G>C (p.Glu57Asp) c.744G>C (p.Glu248Asp) c.1422G>C (p.Glu474Asp) c.1545G>C (p.Glu515Asp) c.819G>C (p.Glu273Asp) c.1425G>C (p.Glu475Asp) n.2423+2669C>G n.1784G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539400G= | CA1894173295 | CACNB2,NSUN6 | c.1515G= (p.Glu505=) c.1380G= (p.Glu460=) c.1503G= (p.Glu501=) c.1575G= (p.Glu525=) c.1659G= (p.Glu553=) c.1497G= (p.Glu499=) c.1284G= (p.Glu428=) c.1461G= (p.Glu487=) c.*800G= (n.*800G=) c.1401G= (p.Glu467=) c.*933G= (n.*933G=) c.1216G= (n.1216G=) c.*898G= (n.*898G=) c.1479G= (p.Glu493=) c.*759G= (n.*759G=) c.1587G= (p.Glu529=) c.909G= (p.Glu303=) c.1494G= (p.Glu498=) c.1363G= (n.1363G=) c.171G= (p.Glu57=) c.744G= (p.Glu248=) c.1422G= (p.Glu474=) c.1545G= (p.Glu515=) c.819G= (p.Glu273=) c.1425G= (p.Glu475=) n.2423+2669C= n.1784G= | |
10 | g.18539400G>T | CA376071650 | CACNB2,NSUN6 | c.1515G>T (p.Glu505Asp) c.1380G>T (p.Glu460Asp) c.1503G>T (p.Glu501Asp) c.1575G>T (p.Glu525Asp) c.1659G>T (p.Glu553Asp) c.1497G>T (p.Glu499Asp) c.1284G>T (p.Glu428Asp) c.1461G>T (p.Glu487Asp) c.*800G>T (n.*800G>T) c.1401G>T (p.Glu467Asp) c.*933G>T (n.*933G>T) c.1216G>T (n.1216G>T) c.*898G>T (n.*898G>T) c.1479G>T (p.Glu493Asp) c.*759G>T (n.*759G>T) c.1587G>T (p.Glu529Asp) c.909G>T (p.Glu303Asp) c.1494G>T (p.Glu498Asp) c.1363G>T (n.1363G>T) c.171G>T (p.Glu57Asp) c.744G>T (p.Glu248Asp) c.1422G>T (p.Glu474Asp) c.1545G>T (p.Glu515Asp) c.819G>T (p.Glu273Asp) c.1425G>T (p.Glu475Asp) n.2423+2669C>A n.1784G>T | |
10 | g.18539401A>C | CA376071652 | CACNB2,NSUN6 | c.1516A>C (p.Thr506Pro) c.1381A>C (p.Thr461Pro) c.1504A>C (p.Thr502Pro) c.1576A>C (p.Thr526Pro) c.1660A>C (p.Thr554Pro) c.1498A>C (p.Thr500Pro) c.1285A>C (p.Thr429Pro) c.1462A>C (p.Thr488Pro) c.*801A>C (n.*801A>C) c.1402A>C (p.Thr468Pro) c.*934A>C (n.*934A>C) c.1217A>C (n.1217A>C) c.*899A>C (n.*899A>C) c.1480A>C (p.Thr494Pro) c.*760A>C (n.*760A>C) c.1588A>C (p.Thr530Pro) c.910A>C (p.Thr304Pro) c.1495A>C (p.Thr499Pro) c.1364A>C (n.1364A>C) c.172A>C (p.Thr58Pro) c.745A>C (p.Thr249Pro) c.1423A>C (p.Thr475Pro) c.1546A>C (p.Thr516Pro) c.820A>C (p.Thr274Pro) c.1426A>C (p.Thr476Pro) n.2423+2668T>G n.1785A>C | |
10 | g.18539401A>G | CA376071654 | CACNB2,NSUN6 | c.1516A>G (p.Thr506Ala) c.1381A>G (p.Thr461Ala) c.1504A>G (p.Thr502Ala) c.1576A>G (p.Thr526Ala) c.1660A>G (p.Thr554Ala) c.1498A>G (p.Thr500Ala) c.1285A>G (p.Thr429Ala) c.1462A>G (p.Thr488Ala) c.*801A>G (n.*801A>G) c.1402A>G (p.Thr468Ala) c.*934A>G (n.*934A>G) c.1217A>G (n.1217A>G) c.*899A>G (n.*899A>G) c.1480A>G (p.Thr494Ala) c.*760A>G (n.*760A>G) c.1588A>G (p.Thr530Ala) c.910A>G (p.Thr304Ala) c.1495A>G (p.Thr499Ala) c.1364A>G (n.1364A>G) c.172A>G (p.Thr58Ala) c.745A>G (p.Thr249Ala) c.1423A>G (p.Thr475Ala) c.1546A>G (p.Thr516Ala) c.820A>G (p.Thr274Ala) c.1426A>G (p.Thr476Ala) n.2423+2668T>C n.1785A>G | gnomAD v4 |
10 | g.18539401A>T | CA376071655 | CACNB2,NSUN6 | c.1516A>T (p.Thr506Ser) c.1381A>T (p.Thr461Ser) c.1504A>T (p.Thr502Ser) c.1576A>T (p.Thr526Ser) c.1660A>T (p.Thr554Ser) c.1498A>T (p.Thr500Ser) c.1285A>T (p.Thr429Ser) c.1462A>T (p.Thr488Ser) c.*801A>T (n.*801A>T) c.1402A>T (p.Thr468Ser) c.*934A>T (n.*934A>T) c.1217A>T (n.1217A>T) c.*899A>T (n.*899A>T) c.1480A>T (p.Thr494Ser) c.*760A>T (n.*760A>T) c.1588A>T (p.Thr530Ser) c.910A>T (p.Thr304Ser) c.1495A>T (p.Thr499Ser) c.1364A>T (n.1364A>T) c.172A>T (p.Thr58Ser) c.745A>T (p.Thr249Ser) c.1423A>T (p.Thr475Ser) c.1546A>T (p.Thr516Ser) c.820A>T (p.Thr274Ser) c.1426A>T (p.Thr476Ser) n.2423+2668T>A n.1785A>T | |
10 | g.18539402C>A | CA376071657 | CACNB2,NSUN6 | c.1517C>A (p.Thr506Lys) c.1382C>A (p.Thr461Lys) c.1505C>A (p.Thr502Lys) c.1577C>A (p.Thr526Lys) c.1661C>A (p.Thr554Lys) c.1499C>A (p.Thr500Lys) c.1286C>A (p.Thr429Lys) c.1463C>A (p.Thr488Lys) c.*802C>A (n.*802C>A) c.1403C>A (p.Thr468Lys) c.*935C>A (n.*935C>A) c.1218C>A (n.1218C>A) c.*900C>A (n.*900C>A) c.1481C>A (p.Thr494Lys) c.*761C>A (n.*761C>A) c.1589C>A (p.Thr530Lys) c.911C>A (p.Thr304Lys) c.1496C>A (p.Thr499Lys) c.1365C>A (n.1365C>A) c.173C>A (p.Thr58Lys) c.746C>A (p.Thr249Lys) c.1424C>A (p.Thr475Lys) c.1547C>A (p.Thr516Lys) c.821C>A (p.Thr274Lys) c.1427C>A (p.Thr476Lys) n.2423+2667G>T n.1786C>A | |
10 | g.18539402C= | CA1894173297 | CACNB2,NSUN6 | c.1517C= (p.Thr506=) c.1382C= (p.Thr461=) c.1505C= (p.Thr502=) c.1577C= (p.Thr526=) c.1661C= (p.Thr554=) c.1499C= (p.Thr500=) c.1286C= (p.Thr429=) c.1463C= (p.Thr488=) c.*802C= (n.*802C=) c.1403C= (p.Thr468=) c.*935C= (n.*935C=) c.1218C= (n.1218C=) c.*900C= (n.*900C=) c.1481C= (p.Thr494=) c.*761C= (n.*761C=) c.1589C= (p.Thr530=) c.911C= (p.Thr304=) c.1496C= (p.Thr499=) c.1365C= (n.1365C=) c.173C= (p.Thr58=) c.746C= (p.Thr249=) c.1424C= (p.Thr475=) c.1547C= (p.Thr516=) c.821C= (p.Thr274=) c.1427C= (p.Thr476=) n.2423+2667G= n.1786C= | |
10 | g.18539402C>G | CA376071660 | CACNB2,NSUN6 | c.1517C>G (p.Thr506Arg) c.1382C>G (p.Thr461Arg) c.1505C>G (p.Thr502Arg) c.1577C>G (p.Thr526Arg) c.1661C>G (p.Thr554Arg) c.1499C>G (p.Thr500Arg) c.1286C>G (p.Thr429Arg) c.1463C>G (p.Thr488Arg) c.*802C>G (n.*802C>G) c.1403C>G (p.Thr468Arg) c.*935C>G (n.*935C>G) c.1218C>G (n.1218C>G) c.*900C>G (n.*900C>G) c.1481C>G (p.Thr494Arg) c.*761C>G (n.*761C>G) c.1589C>G (p.Thr530Arg) c.911C>G (p.Thr304Arg) c.1496C>G (p.Thr499Arg) c.1365C>G (n.1365C>G) c.173C>G (p.Thr58Arg) c.746C>G (p.Thr249Arg) c.1424C>G (p.Thr475Arg) c.1547C>G (p.Thr516Arg) c.821C>G (p.Thr274Arg) c.1427C>G (p.Thr476Arg) n.2423+2667G>C n.1786C>G | |
10 | g.18539402C>T | CA5430122 | CACNB2,NSUN6 | c.1517C>T (p.Thr506Ile) c.1382C>T (p.Thr461Ile) c.1505C>T (p.Thr502Ile) c.1577C>T (p.Thr526Ile) c.1661C>T (p.Thr554Ile) c.1499C>T (p.Thr500Ile) c.1286C>T (p.Thr429Ile) c.1463C>T (p.Thr488Ile) c.*802C>T (n.*802C>T) c.1403C>T (p.Thr468Ile) c.*935C>T (n.*935C>T) c.1218C>T (n.1218C>T) c.*900C>T (n.*900C>T) c.1481C>T (p.Thr494Ile) c.*761C>T (n.*761C>T) c.1589C>T (p.Thr530Ile) c.911C>T (p.Thr304Ile) c.1496C>T (p.Thr499Ile) c.1365C>T (n.1365C>T) c.173C>T (p.Thr58Ile) c.746C>T (p.Thr249Ile) c.1424C>T (p.Thr475Ile) c.1547C>T (p.Thr516Ile) c.821C>T (p.Thr274Ile) c.1427C>T (p.Thr476Ile) n.2423+2667G>A n.1786C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539403_18539411dup | CA2574454565 | CACNB2,NSUN6 | c.1518_1526dup (p.Ser509_Glu510insPheAspSer) c.1383_1391dup (p.Ser464_Glu465insPheAspSer) c.1506_1514dup (p.Ser505_Glu506insPheAspSer) c.1578_1586dup (p.Ser529_Glu530insPheAspSer) c.1662_1670dup (p.Ser557_Glu558insPheAspSer) c.1500_1508dup (p.Ser503_Glu504insPheAspSer) c.1287_1295dup (p.Ser432_Glu433insPheAspSer) c.1464_1472dup (p.Ser491_Glu492insPheAspSer) c.*803_*811dup (n.*803_*811dup) c.1404_1412dup (p.Ser471_Glu472insPheAspSer) c.*936_*944dup (n.*936_*944dup) c.1219_1227dup (n.1219_1227dup) c.*901_*909dup (n.*901_*909dup) c.1482_1490dup (p.Ser497_Glu498insPheAspSer) c.*762_*770dup (n.*762_*770dup) c.1590_1598dup (p.Ser533_Glu534insPheAspSer) c.912_920dup (p.Ser307_Glu308insPheAspSer) c.1497_1505dup (p.Ser502_Glu503insPheAspSer) c.1366_1374dup (n.1366_1374dup) c.174_182dup (p.Ser61_Glu62insPheAspSer) c.747_755dup (p.Ser252_Glu253insPheAspSer) c.1425_1433dup (p.Ser478_Glu479insPheAspSer) c.1548_1556dup (p.Ser519_Glu520insPheAspSer) c.822_830dup (p.Ser277_Glu278insPheAspSer) c.1428_1436dup (p.Ser479_Glu480insPheAspSer) n.2423+2659_2423+2667dup n.1787_1795dup | |
10 | g.18539403A= | CA1894173301 | CACNB2,NSUN6 | c.1518A= (p.Thr506=) c.1383A= (p.Thr461=) c.1506A= (p.Thr502=) c.1578A= (p.Thr526=) c.1662A= (p.Thr554=) c.1500A= (p.Thr500=) c.1287A= (p.Thr429=) c.1464A= (p.Thr488=) c.*803A= (n.*803A=) c.1404A= (p.Thr468=) c.*936A= (n.*936A=) c.1219A= (n.1219A=) c.*901A= (n.*901A=) c.1482A= (p.Thr494=) c.*762A= (n.*762A=) c.1590A= (p.Thr530=) c.912A= (p.Thr304=) c.1497A= (p.Thr499=) c.1366A= (n.1366A=) c.174A= (p.Thr58=) c.747A= (p.Thr249=) c.1425A= (p.Thr475=) c.1548A= (p.Thr516=) c.822A= (p.Thr274=) c.1428A= (p.Thr476=) n.2423+2666T= n.1787A= | |
10 | g.18539403A>C | CA468628171 | CACNB2,NSUN6 | c.1518A>C (p.Thr506=) c.1383A>C (p.Thr461=) c.1506A>C (p.Thr502=) c.1578A>C (p.Thr526=) c.1662A>C (p.Thr554=) c.1500A>C (p.Thr500=) c.1287A>C (p.Thr429=) c.1464A>C (p.Thr488=) c.*803A>C (n.*803A>C) c.1404A>C (p.Thr468=) c.*936A>C (n.*936A>C) c.1219A>C (n.1219A>C) c.*901A>C (n.*901A>C) c.1482A>C (p.Thr494=) c.*762A>C (n.*762A>C) c.1590A>C (p.Thr530=) c.912A>C (p.Thr304=) c.1497A>C (p.Thr499=) c.1366A>C (n.1366A>C) c.174A>C (p.Thr58=) c.747A>C (p.Thr249=) c.1425A>C (p.Thr475=) c.1548A>C (p.Thr516=) c.822A>C (p.Thr274=) c.1428A>C (p.Thr476=) n.2423+2666T>G n.1787A>C | |
10 | g.18539403A>G | CA468628174 | CACNB2,NSUN6 | c.1518A>G (p.Thr506=) c.1383A>G (p.Thr461=) c.1506A>G (p.Thr502=) c.1578A>G (p.Thr526=) c.1662A>G (p.Thr554=) c.1500A>G (p.Thr500=) c.1287A>G (p.Thr429=) c.1464A>G (p.Thr488=) c.*803A>G (n.*803A>G) c.1404A>G (p.Thr468=) c.*936A>G (n.*936A>G) c.1219A>G (n.1219A>G) c.*901A>G (n.*901A>G) c.1482A>G (p.Thr494=) c.*762A>G (n.*762A>G) c.1590A>G (p.Thr530=) c.912A>G (p.Thr304=) c.1497A>G (p.Thr499=) c.1366A>G (n.1366A>G) c.174A>G (p.Thr58=) c.747A>G (p.Thr249=) c.1425A>G (p.Thr475=) c.1548A>G (p.Thr516=) c.822A>G (p.Thr274=) c.1428A>G (p.Thr476=) n.2423+2666T>C n.1787A>G | |
10 | g.18539403A>T | CA468628176 | CACNB2,NSUN6 | c.1518A>T (p.Thr506=) c.1383A>T (p.Thr461=) c.1506A>T (p.Thr502=) c.1578A>T (p.Thr526=) c.1662A>T (p.Thr554=) c.1500A>T (p.Thr500=) c.1287A>T (p.Thr429=) c.1464A>T (p.Thr488=) c.*803A>T (n.*803A>T) c.1404A>T (p.Thr468=) c.*936A>T (n.*936A>T) c.1219A>T (n.1219A>T) c.*901A>T (n.*901A>T) c.1482A>T (p.Thr494=) c.*762A>T (n.*762A>T) c.1590A>T (p.Thr530=) c.912A>T (p.Thr304=) c.1497A>T (p.Thr499=) c.1366A>T (n.1366A>T) c.174A>T (p.Thr58=) c.747A>T (p.Thr249=) c.1425A>T (p.Thr475=) c.1548A>T (p.Thr516=) c.822A>T (p.Thr274=) c.1428A>T (p.Thr476=) n.2423+2666T>A n.1787A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539404T>A | CA376071661 | CACNB2,NSUN6 | c.1519T>A (p.Phe507Ile) c.1384T>A (p.Phe462Ile) c.1507T>A (p.Phe503Ile) c.1579T>A (p.Phe527Ile) c.1663T>A (p.Phe555Ile) c.1501T>A (p.Phe501Ile) c.1288T>A (p.Phe430Ile) c.1465T>A (p.Phe489Ile) c.*804T>A (n.*804T>A) c.1405T>A (p.Phe469Ile) c.*937T>A (n.*937T>A) c.1220T>A (n.1220T>A) c.*902T>A (n.*902T>A) c.1483T>A (p.Phe495Ile) c.*763T>A (n.*763T>A) c.1591T>A (p.Phe531Ile) c.913T>A (p.Phe305Ile) c.1498T>A (p.Phe500Ile) c.1367T>A (n.1367T>A) c.175T>A (p.Phe59Ile) c.748T>A (p.Phe250Ile) c.1426T>A (p.Phe476Ile) c.1549T>A (p.Phe517Ile) c.823T>A (p.Phe275Ile) c.1429T>A (p.Phe477Ile) n.2423+2665A>T n.1788T>A | gnomAD v4 |
10 | g.18539404T>C | CA376071662 | CACNB2,NSUN6 | c.1519T>C (p.Phe507Leu) c.1384T>C (p.Phe462Leu) c.1507T>C (p.Phe503Leu) c.1579T>C (p.Phe527Leu) c.1663T>C (p.Phe555Leu) c.1501T>C (p.Phe501Leu) c.1288T>C (p.Phe430Leu) c.1465T>C (p.Phe489Leu) c.*804T>C (n.*804T>C) c.1405T>C (p.Phe469Leu) c.*937T>C (n.*937T>C) c.1220T>C (n.1220T>C) c.*902T>C (n.*902T>C) c.1483T>C (p.Phe495Leu) c.*763T>C (n.*763T>C) c.1591T>C (p.Phe531Leu) c.913T>C (p.Phe305Leu) c.1498T>C (p.Phe500Leu) c.1367T>C (n.1367T>C) c.175T>C (p.Phe59Leu) c.748T>C (p.Phe250Leu) c.1426T>C (p.Phe476Leu) c.1549T>C (p.Phe517Leu) c.823T>C (p.Phe275Leu) c.1429T>C (p.Phe477Leu) n.2423+2665A>G n.1788T>C | ClinVar dbSNP gnomAD v4 |
10 | g.18539404T>G | CA376071663 | CACNB2,NSUN6 | c.1519T>G (p.Phe507Val) c.1384T>G (p.Phe462Val) c.1507T>G (p.Phe503Val) c.1579T>G (p.Phe527Val) c.1663T>G (p.Phe555Val) c.1501T>G (p.Phe501Val) c.1288T>G (p.Phe430Val) c.1465T>G (p.Phe489Val) c.*804T>G (n.*804T>G) c.1405T>G (p.Phe469Val) c.*937T>G (n.*937T>G) c.1220T>G (n.1220T>G) c.*902T>G (n.*902T>G) c.1483T>G (p.Phe495Val) c.*763T>G (n.*763T>G) c.1591T>G (p.Phe531Val) c.913T>G (p.Phe305Val) c.1498T>G (p.Phe500Val) c.1367T>G (n.1367T>G) c.175T>G (p.Phe59Val) c.748T>G (p.Phe250Val) c.1426T>G (p.Phe476Val) c.1549T>G (p.Phe517Val) c.823T>G (p.Phe275Val) c.1429T>G (p.Phe477Val) n.2423+2665A>C n.1788T>G | |
10 | g.18539404T= | CA1894173303 | CACNB2,NSUN6 | c.1519T= (p.Phe507=) c.1384T= (p.Phe462=) c.1507T= (p.Phe503=) c.1579T= (p.Phe527=) c.1663T= (p.Phe555=) c.1501T= (p.Phe501=) c.1288T= (p.Phe430=) c.1465T= (p.Phe489=) c.*804T= (n.*804T=) c.1405T= (p.Phe469=) c.*937T= (n.*937T=) c.1220T= (n.1220T=) c.*902T= (n.*902T=) c.1483T= (p.Phe495=) c.*763T= (n.*763T=) c.1591T= (p.Phe531=) c.913T= (p.Phe305=) c.1498T= (p.Phe500=) c.1367T= (n.1367T=) c.175T= (p.Phe59=) c.748T= (p.Phe250=) c.1426T= (p.Phe476=) c.1549T= (p.Phe517=) c.823T= (p.Phe275=) c.1429T= (p.Phe477=) n.2423+2665A= n.1788T= | |
10 | g.18539405T>A | CA376071664 | CACNB2,NSUN6 | c.1520T>A (p.Phe507Tyr) c.1385T>A (p.Phe462Tyr) c.1508T>A (p.Phe503Tyr) c.1580T>A (p.Phe527Tyr) c.1664T>A (p.Phe555Tyr) c.1502T>A (p.Phe501Tyr) c.1289T>A (p.Phe430Tyr) c.1466T>A (p.Phe489Tyr) c.*805T>A (n.*805T>A) c.1406T>A (p.Phe469Tyr) c.*938T>A (n.*938T>A) c.1221T>A (n.1221T>A) c.*903T>A (n.*903T>A) c.1484T>A (p.Phe495Tyr) c.*764T>A (n.*764T>A) c.1592T>A (p.Phe531Tyr) c.914T>A (p.Phe305Tyr) c.1499T>A (p.Phe500Tyr) c.1368T>A (n.1368T>A) c.176T>A (p.Phe59Tyr) c.749T>A (p.Phe250Tyr) c.1427T>A (p.Phe476Tyr) c.1550T>A (p.Phe517Tyr) c.824T>A (p.Phe275Tyr) c.1430T>A (p.Phe477Tyr) n.2423+2664A>T n.1789T>A | |
10 | g.18539405T>C | CA376071666 | CACNB2,NSUN6 | c.1520T>C (p.Phe507Ser) c.1385T>C (p.Phe462Ser) c.1508T>C (p.Phe503Ser) c.1580T>C (p.Phe527Ser) c.1664T>C (p.Phe555Ser) c.1502T>C (p.Phe501Ser) c.1289T>C (p.Phe430Ser) c.1466T>C (p.Phe489Ser) c.*805T>C (n.*805T>C) c.1406T>C (p.Phe469Ser) c.*938T>C (n.*938T>C) c.1221T>C (n.1221T>C) c.*903T>C (n.*903T>C) c.1484T>C (p.Phe495Ser) c.*764T>C (n.*764T>C) c.1592T>C (p.Phe531Ser) c.914T>C (p.Phe305Ser) c.1499T>C (p.Phe500Ser) c.1368T>C (n.1368T>C) c.176T>C (p.Phe59Ser) c.749T>C (p.Phe250Ser) c.1427T>C (p.Phe476Ser) c.1550T>C (p.Phe517Ser) c.824T>C (p.Phe275Ser) c.1430T>C (p.Phe477Ser) n.2423+2664A>G n.1789T>C | |
10 | g.18539405T>G | CA376071668 | CACNB2,NSUN6 | c.1520T>G (p.Phe507Cys) c.1385T>G (p.Phe462Cys) c.1508T>G (p.Phe503Cys) c.1580T>G (p.Phe527Cys) c.1664T>G (p.Phe555Cys) c.1502T>G (p.Phe501Cys) c.1289T>G (p.Phe430Cys) c.1466T>G (p.Phe489Cys) c.*805T>G (n.*805T>G) c.1406T>G (p.Phe469Cys) c.*938T>G (n.*938T>G) c.1221T>G (n.1221T>G) c.*903T>G (n.*903T>G) c.1484T>G (p.Phe495Cys) c.*764T>G (n.*764T>G) c.1592T>G (p.Phe531Cys) c.914T>G (p.Phe305Cys) c.1499T>G (p.Phe500Cys) c.1368T>G (n.1368T>G) c.176T>G (p.Phe59Cys) c.749T>G (p.Phe250Cys) c.1427T>G (p.Phe476Cys) c.1550T>G (p.Phe517Cys) c.824T>G (p.Phe275Cys) c.1430T>G (p.Phe477Cys) n.2423+2664A>C n.1789T>G | |
10 | g.18539406T>A | CA376071670 | CACNB2,NSUN6 | c.1521T>A (p.Phe507Leu) c.1386T>A (p.Phe462Leu) c.1509T>A (p.Phe503Leu) c.1581T>A (p.Phe527Leu) c.1665T>A (p.Phe555Leu) c.1503T>A (p.Phe501Leu) c.1290T>A (p.Phe430Leu) c.1467T>A (p.Phe489Leu) c.*806T>A (n.*806T>A) c.1407T>A (p.Phe469Leu) c.*939T>A (n.*939T>A) c.1222T>A (n.1222T>A) c.*904T>A (n.*904T>A) c.1485T>A (p.Phe495Leu) c.*765T>A (n.*765T>A) c.1593T>A (p.Phe531Leu) c.915T>A (p.Phe305Leu) c.1500T>A (p.Phe500Leu) c.1369T>A (n.1369T>A) c.177T>A (p.Phe59Leu) c.750T>A (p.Phe250Leu) c.1428T>A (p.Phe476Leu) c.1551T>A (p.Phe517Leu) c.825T>A (p.Phe275Leu) c.1431T>A (p.Phe477Leu) n.2423+2663A>T n.1790T>A | |
10 | g.18539406T>C | CA468628190 | CACNB2,NSUN6 | c.1521T>C (p.Phe507=) c.1386T>C (p.Phe462=) c.1509T>C (p.Phe503=) c.1581T>C (p.Phe527=) c.1665T>C (p.Phe555=) c.1503T>C (p.Phe501=) c.1290T>C (p.Phe430=) c.1467T>C (p.Phe489=) c.*806T>C (n.*806T>C) c.1407T>C (p.Phe469=) c.*939T>C (n.*939T>C) c.1222T>C (n.1222T>C) c.*904T>C (n.*904T>C) c.1485T>C (p.Phe495=) c.*765T>C (n.*765T>C) c.1593T>C (p.Phe531=) c.915T>C (p.Phe305=) c.1500T>C (p.Phe500=) c.1369T>C (n.1369T>C) c.177T>C (p.Phe59=) c.750T>C (p.Phe250=) c.1428T>C (p.Phe476=) c.1551T>C (p.Phe517=) c.825T>C (p.Phe275=) c.1431T>C (p.Phe477=) n.2423+2663A>G n.1790T>C | dbSNP |
10 | g.18539406T>G | CA10582712 | CACNB2,NSUN6 | c.1521T>G (p.Phe507Leu) c.1386T>G (p.Phe462Leu) c.1509T>G (p.Phe503Leu) c.1581T>G (p.Phe527Leu) c.1665T>G (p.Phe555Leu) c.1503T>G (p.Phe501Leu) c.1290T>G (p.Phe430Leu) c.1467T>G (p.Phe489Leu) c.*806T>G (n.*806T>G) c.1407T>G (p.Phe469Leu) c.*939T>G (n.*939T>G) c.1222T>G (n.1222T>G) c.*904T>G (n.*904T>G) c.1485T>G (p.Phe495Leu) c.*765T>G (n.*765T>G) c.1593T>G (p.Phe531Leu) c.915T>G (p.Phe305Leu) c.1500T>G (p.Phe500Leu) c.1369T>G (n.1369T>G) c.177T>G (p.Phe59Leu) c.750T>G (p.Phe250Leu) c.1428T>G (p.Phe476Leu) c.1551T>G (p.Phe517Leu) c.825T>G (p.Phe275Leu) c.1431T>G (p.Phe477Leu) n.2423+2663A>C n.1790T>G | ClinVar dbSNP |
10 | g.18539406T= | CA1894173306 | CACNB2,NSUN6 | c.1521T= (p.Phe507=) c.1386T= (p.Phe462=) c.1509T= (p.Phe503=) c.1581T= (p.Phe527=) c.1665T= (p.Phe555=) c.1503T= (p.Phe501=) c.1290T= (p.Phe430=) c.1467T= (p.Phe489=) c.*806T= (n.*806T=) c.1407T= (p.Phe469=) c.*939T= (n.*939T=) c.1222T= (n.1222T=) c.*904T= (n.*904T=) c.1485T= (p.Phe495=) c.*765T= (n.*765T=) c.1593T= (p.Phe531=) c.915T= (p.Phe305=) c.1500T= (p.Phe500=) c.1369T= (n.1369T=) c.177T= (p.Phe59=) c.750T= (p.Phe250=) c.1428T= (p.Phe476=) c.1551T= (p.Phe517=) c.825T= (p.Phe275=) c.1431T= (p.Phe477=) n.2423+2663A= n.1790T= | |
10 | g.18539407G>A | CA376071672 | CACNB2,NSUN6 | c.1522G>A (p.Asp508Asn) c.1387G>A (p.Asp463Asn) c.1510G>A (p.Asp504Asn) c.1582G>A (p.Asp528Asn) c.1666G>A (p.Asp556Asn) c.1504G>A (p.Asp502Asn) c.1291G>A (p.Asp431Asn) c.1468G>A (p.Asp490Asn) c.*807G>A (n.*807G>A) c.1408G>A (p.Asp470Asn) c.*940G>A (n.*940G>A) c.1223G>A (n.1223G>A) c.*905G>A (n.*905G>A) c.1486G>A (p.Asp496Asn) c.*766G>A (n.*766G>A) c.1594G>A (p.Asp532Asn) c.916G>A (p.Asp306Asn) c.1501G>A (p.Asp501Asn) c.1370G>A (n.1370G>A) c.178G>A (p.Asp60Asn) c.751G>A (p.Asp251Asn) c.1429G>A (p.Asp477Asn) c.1552G>A (p.Asp518Asn) c.826G>A (p.Asp276Asn) c.1432G>A (p.Asp478Asn) n.2423+2662C>T n.1791G>A | |
10 | g.18539407G>C | CA376071673 | CACNB2,NSUN6 | c.1522G>C (p.Asp508His) c.1387G>C (p.Asp463His) c.1510G>C (p.Asp504His) c.1582G>C (p.Asp528His) c.1666G>C (p.Asp556His) c.1504G>C (p.Asp502His) c.1291G>C (p.Asp431His) c.1468G>C (p.Asp490His) c.*807G>C (n.*807G>C) c.1408G>C (p.Asp470His) c.*940G>C (n.*940G>C) c.1223G>C (n.1223G>C) c.*905G>C (n.*905G>C) c.1486G>C (p.Asp496His) c.*766G>C (n.*766G>C) c.1594G>C (p.Asp532His) c.916G>C (p.Asp306His) c.1501G>C (p.Asp501His) c.1370G>C (n.1370G>C) c.178G>C (p.Asp60His) c.751G>C (p.Asp251His) c.1429G>C (p.Asp477His) c.1552G>C (p.Asp518His) c.826G>C (p.Asp276His) c.1432G>C (p.Asp478His) n.2423+2662C>G n.1791G>C | |
10 | g.18539407G>T | CA376071675 | CACNB2,NSUN6 | c.1522G>T (p.Asp508Tyr) c.1387G>T (p.Asp463Tyr) c.1510G>T (p.Asp504Tyr) c.1582G>T (p.Asp528Tyr) c.1666G>T (p.Asp556Tyr) c.1504G>T (p.Asp502Tyr) c.1291G>T (p.Asp431Tyr) c.1468G>T (p.Asp490Tyr) c.*807G>T (n.*807G>T) c.1408G>T (p.Asp470Tyr) c.*940G>T (n.*940G>T) c.1223G>T (n.1223G>T) c.*905G>T (n.*905G>T) c.1486G>T (p.Asp496Tyr) c.*766G>T (n.*766G>T) c.1594G>T (p.Asp532Tyr) c.916G>T (p.Asp306Tyr) c.1501G>T (p.Asp501Tyr) c.1370G>T (n.1370G>T) c.178G>T (p.Asp60Tyr) c.751G>T (p.Asp251Tyr) c.1429G>T (p.Asp477Tyr) c.1552G>T (p.Asp518Tyr) c.826G>T (p.Asp276Tyr) c.1432G>T (p.Asp478Tyr) n.2423+2662C>A n.1791G>T | gnomAD v4 |
10 | g.18539408A>C | CA376071679 | CACNB2,NSUN6 | c.1523A>C (p.Asp508Ala) c.1388A>C (p.Asp463Ala) c.1511A>C (p.Asp504Ala) c.1583A>C (p.Asp528Ala) c.1667A>C (p.Asp556Ala) c.1505A>C (p.Asp502Ala) c.1292A>C (p.Asp431Ala) c.1469A>C (p.Asp490Ala) c.*808A>C (n.*808A>C) c.1409A>C (p.Asp470Ala) c.*941A>C (n.*941A>C) c.1224A>C (n.1224A>C) c.*906A>C (n.*906A>C) c.1487A>C (p.Asp496Ala) c.*767A>C (n.*767A>C) c.1595A>C (p.Asp532Ala) c.917A>C (p.Asp306Ala) c.1502A>C (p.Asp501Ala) c.1371A>C (n.1371A>C) c.179A>C (p.Asp60Ala) c.752A>C (p.Asp251Ala) c.1430A>C (p.Asp477Ala) c.1553A>C (p.Asp518Ala) c.827A>C (p.Asp276Ala) c.1433A>C (p.Asp478Ala) n.2423+2661T>G n.1792A>C | |
10 | g.18539408A>G | CA376071681 | CACNB2,NSUN6 | c.1523A>G (p.Asp508Gly) c.1388A>G (p.Asp463Gly) c.1511A>G (p.Asp504Gly) c.1583A>G (p.Asp528Gly) c.1667A>G (p.Asp556Gly) c.1505A>G (p.Asp502Gly) c.1292A>G (p.Asp431Gly) c.1469A>G (p.Asp490Gly) c.*808A>G (n.*808A>G) c.1409A>G (p.Asp470Gly) c.*941A>G (n.*941A>G) c.1224A>G (n.1224A>G) c.*906A>G (n.*906A>G) c.1487A>G (p.Asp496Gly) c.*767A>G (n.*767A>G) c.1595A>G (p.Asp532Gly) c.917A>G (p.Asp306Gly) c.1502A>G (p.Asp501Gly) c.1371A>G (n.1371A>G) c.179A>G (p.Asp60Gly) c.752A>G (p.Asp251Gly) c.1430A>G (p.Asp477Gly) c.1553A>G (p.Asp518Gly) c.827A>G (p.Asp276Gly) c.1433A>G (p.Asp478Gly) n.2423+2661T>C n.1792A>G | |
10 | g.18539408A>T | CA376071678 | CACNB2,NSUN6 | c.1523A>T (p.Asp508Val) c.1388A>T (p.Asp463Val) c.1511A>T (p.Asp504Val) c.1583A>T (p.Asp528Val) c.1667A>T (p.Asp556Val) c.1505A>T (p.Asp502Val) c.1292A>T (p.Asp431Val) c.1469A>T (p.Asp490Val) c.*808A>T (n.*808A>T) c.1409A>T (p.Asp470Val) c.*941A>T (n.*941A>T) c.1224A>T (n.1224A>T) c.*906A>T (n.*906A>T) c.1487A>T (p.Asp496Val) c.*767A>T (n.*767A>T) c.1595A>T (p.Asp532Val) c.917A>T (p.Asp306Val) c.1502A>T (p.Asp501Val) c.1371A>T (n.1371A>T) c.179A>T (p.Asp60Val) c.752A>T (p.Asp251Val) c.1430A>T (p.Asp477Val) c.1553A>T (p.Asp518Val) c.827A>T (p.Asp276Val) c.1433A>T (p.Asp478Val) n.2423+2661T>A n.1792A>T | |
10 | g.18539410_18539417del | CA2608435614 | CACNB2,NSUN6 | c.1525_1532del (p.Ser509ProfsTer18) c.1390_1397del (p.Ser464ProfsTer18) c.1513_1520del (p.Ser505ProfsTer18) c.1585_1592del (p.Ser529ProfsTer18) c.1669_1676del (p.Ser557ProfsTer18) c.1507_1514del (p.Ser503ProfsTer18) c.1294_1301del (p.Ser432ProfsTer18) c.1471_1478del (p.Ser491ProfsTer18) c.*810_*817del (n.*810_*817del) c.1411_1418del (p.Ser471ProfsTer18) c.*943_*950del (n.*943_*950del) c.1226_1233del (n.1226_1233del) c.*908_*915del (n.*908_*915del) c.1489_1496del (p.Ser497ProfsTer18) c.*769_*776del (n.*769_*776del) c.1597_1604del (p.Ser533ProfsTer18) c.919_926del (p.Ser307ProfsTer18) c.1504_1511del (p.Ser502ProfsTer18) c.1373_1380del (n.1373_1380del) c.181_188del (p.Ser61ProfsTer18) c.754_761del (p.Ser252ProfsTer18) c.1432_1439del (p.Ser478ProfsTer18) c.1555_1562del (p.Ser519ProfsTer18) c.829_836del (p.Ser277ProfsTer18) c.1435_1442del (p.Ser479ProfsTer18) n.2423+2654_2423+2661del n.1794_1801del | gnomAD v4 |
10 | g.18539409C>A | CA376071685 | CACNB2,NSUN6 | c.1524C>A (p.Asp508Glu) c.1389C>A (p.Asp463Glu) c.1512C>A (p.Asp504Glu) c.1584C>A (p.Asp528Glu) c.1668C>A (p.Asp556Glu) c.1506C>A (p.Asp502Glu) c.1293C>A (p.Asp431Glu) c.1470C>A (p.Asp490Glu) c.*809C>A (n.*809C>A) c.1410C>A (p.Asp470Glu) c.*942C>A (n.*942C>A) c.1225C>A (n.1225C>A) c.*907C>A (n.*907C>A) c.1488C>A (p.Asp496Glu) c.*768C>A (n.*768C>A) c.1596C>A (p.Asp532Glu) c.918C>A (p.Asp306Glu) c.1503C>A (p.Asp501Glu) c.1372C>A (n.1372C>A) c.180C>A (p.Asp60Glu) c.753C>A (p.Asp251Glu) c.1431C>A (p.Asp477Glu) c.1554C>A (p.Asp518Glu) c.828C>A (p.Asp276Glu) c.1434C>A (p.Asp478Glu) n.2423+2660G>T n.1793C>A | |
10 | g.18539409C>G | CA376071683 | CACNB2,NSUN6 | c.1524C>G (p.Asp508Glu) c.1389C>G (p.Asp463Glu) c.1512C>G (p.Asp504Glu) c.1584C>G (p.Asp528Glu) c.1668C>G (p.Asp556Glu) c.1506C>G (p.Asp502Glu) c.1293C>G (p.Asp431Glu) c.1470C>G (p.Asp490Glu) c.*809C>G (n.*809C>G) c.1410C>G (p.Asp470Glu) c.*942C>G (n.*942C>G) c.1225C>G (n.1225C>G) c.*907C>G (n.*907C>G) c.1488C>G (p.Asp496Glu) c.*768C>G (n.*768C>G) c.1596C>G (p.Asp532Glu) c.918C>G (p.Asp306Glu) c.1503C>G (p.Asp501Glu) c.1372C>G (n.1372C>G) c.180C>G (p.Asp60Glu) c.753C>G (p.Asp251Glu) c.1431C>G (p.Asp477Glu) c.1554C>G (p.Asp518Glu) c.828C>G (p.Asp276Glu) c.1434C>G (p.Asp478Glu) n.2423+2660G>C n.1793C>G | |
10 | g.18539409C>T | CA468628219 | CACNB2,NSUN6 | c.1524C>T (p.Asp508=) c.1389C>T (p.Asp463=) c.1512C>T (p.Asp504=) c.1584C>T (p.Asp528=) c.1668C>T (p.Asp556=) c.1506C>T (p.Asp502=) c.1293C>T (p.Asp431=) c.1470C>T (p.Asp490=) c.*809C>T (n.*809C>T) c.1410C>T (p.Asp470=) c.*942C>T (n.*942C>T) c.1225C>T (n.1225C>T) c.*907C>T (n.*907C>T) c.1488C>T (p.Asp496=) c.*768C>T (n.*768C>T) c.1596C>T (p.Asp532=) c.918C>T (p.Asp306=) c.1503C>T (p.Asp501=) c.1372C>T (n.1372C>T) c.180C>T (p.Asp60=) c.753C>T (p.Asp251=) c.1431C>T (p.Asp477=) c.1554C>T (p.Asp518=) c.828C>T (p.Asp276=) c.1434C>T (p.Asp478=) n.2423+2660G>A n.1793C>T | gnomAD v4 |
10 | g.18539410T>A | CA376071686 | CACNB2,NSUN6 | c.1525T>A (p.Ser509Thr) c.1390T>A (p.Ser464Thr) c.1513T>A (p.Ser505Thr) c.1585T>A (p.Ser529Thr) c.1669T>A (p.Ser557Thr) c.1507T>A (p.Ser503Thr) c.1294T>A (p.Ser432Thr) c.1471T>A (p.Ser491Thr) c.*810T>A (n.*810T>A) c.1411T>A (p.Ser471Thr) c.*943T>A (n.*943T>A) c.1226T>A (n.1226T>A) c.*908T>A (n.*908T>A) c.1489T>A (p.Ser497Thr) c.*769T>A (n.*769T>A) c.1597T>A (p.Ser533Thr) c.919T>A (p.Ser307Thr) c.1504T>A (p.Ser502Thr) c.1373T>A (n.1373T>A) c.181T>A (p.Ser61Thr) c.754T>A (p.Ser252Thr) c.1432T>A (p.Ser478Thr) c.1555T>A (p.Ser519Thr) c.829T>A (p.Ser277Thr) c.1435T>A (p.Ser479Thr) n.2423+2659A>T n.1794T>A | |
10 | g.18539410T>C | CA376071688 | CACNB2,NSUN6 | c.1525T>C (p.Ser509Pro) c.1390T>C (p.Ser464Pro) c.1513T>C (p.Ser505Pro) c.1585T>C (p.Ser529Pro) c.1669T>C (p.Ser557Pro) c.1507T>C (p.Ser503Pro) c.1294T>C (p.Ser432Pro) c.1471T>C (p.Ser491Pro) c.*810T>C (n.*810T>C) c.1411T>C (p.Ser471Pro) c.*943T>C (n.*943T>C) c.1226T>C (n.1226T>C) c.*908T>C (n.*908T>C) c.1489T>C (p.Ser497Pro) c.*769T>C (n.*769T>C) c.1597T>C (p.Ser533Pro) c.919T>C (p.Ser307Pro) c.1504T>C (p.Ser502Pro) c.1373T>C (n.1373T>C) c.181T>C (p.Ser61Pro) c.754T>C (p.Ser252Pro) c.1432T>C (p.Ser478Pro) c.1555T>C (p.Ser519Pro) c.829T>C (p.Ser277Pro) c.1435T>C (p.Ser479Pro) n.2423+2659A>G n.1794T>C | gnomAD v4 |
10 | g.18539410T>G | CA376071689 | CACNB2,NSUN6 | c.1525T>G (p.Ser509Ala) c.1390T>G (p.Ser464Ala) c.1513T>G (p.Ser505Ala) c.1585T>G (p.Ser529Ala) c.1669T>G (p.Ser557Ala) c.1507T>G (p.Ser503Ala) c.1294T>G (p.Ser432Ala) c.1471T>G (p.Ser491Ala) c.*810T>G (n.*810T>G) c.1411T>G (p.Ser471Ala) c.*943T>G (n.*943T>G) c.1226T>G (n.1226T>G) c.*908T>G (n.*908T>G) c.1489T>G (p.Ser497Ala) c.*769T>G (n.*769T>G) c.1597T>G (p.Ser533Ala) c.919T>G (p.Ser307Ala) c.1504T>G (p.Ser502Ala) c.1373T>G (n.1373T>G) c.181T>G (p.Ser61Ala) c.754T>G (p.Ser252Ala) c.1432T>G (p.Ser478Ala) c.1555T>G (p.Ser519Ala) c.829T>G (p.Ser277Ala) c.1435T>G (p.Ser479Ala) n.2423+2659A>C n.1794T>G | gnomAD v4 |
10 | g.18539411C>A | CA376071691 | CACNB2,NSUN6 | c.1526C>A (p.Ser509Ter) c.1391C>A (p.Ser464Ter) c.1514C>A (p.Ser505Ter) c.1586C>A (p.Ser529Ter) c.1670C>A (p.Ser557Ter) c.1508C>A (p.Ser503Ter) c.1295C>A (p.Ser432Ter) c.1472C>A (p.Ser491Ter) c.*811C>A (n.*811C>A) c.1412C>A (p.Ser471Ter) c.*944C>A (n.*944C>A) c.1227C>A (n.1227C>A) c.*909C>A (n.*909C>A) c.1490C>A (p.Ser497Ter) c.*770C>A (n.*770C>A) c.1598C>A (p.Ser533Ter) c.920C>A (p.Ser307Ter) c.1505C>A (p.Ser502Ter) c.1374C>A (n.1374C>A) c.182C>A (p.Ser61Ter) c.755C>A (p.Ser252Ter) c.1433C>A (p.Ser478Ter) c.1556C>A (p.Ser519Ter) c.830C>A (p.Ser277Ter) c.1436C>A (p.Ser479Ter) n.2423+2658G>T n.1795C>A | dbSNP |
10 | g.18539411C= | CA1894173308 | CACNB2,NSUN6 | c.1526C= (p.Ser509=) c.1391C= (p.Ser464=) c.1514C= (p.Ser505=) c.1586C= (p.Ser529=) c.1670C= (p.Ser557=) c.1508C= (p.Ser503=) c.1295C= (p.Ser432=) c.1472C= (p.Ser491=) c.*811C= (n.*811C=) c.1412C= (p.Ser471=) c.*944C= (n.*944C=) c.1227C= (n.1227C=) c.*909C= (n.*909C=) c.1490C= (p.Ser497=) c.*770C= (n.*770C=) c.1598C= (p.Ser533=) c.920C= (p.Ser307=) c.1505C= (p.Ser502=) c.1374C= (n.1374C=) c.182C= (p.Ser61=) c.755C= (p.Ser252=) c.1433C= (p.Ser478=) c.1556C= (p.Ser519=) c.830C= (p.Ser277=) c.1436C= (p.Ser479=) n.2423+2658G= n.1795C= | |
10 | g.18539411C>G | CA5430123 | CACNB2,NSUN6 | c.1526C>G (p.Ser509Trp) c.1391C>G (p.Ser464Trp) c.1514C>G (p.Ser505Trp) c.1586C>G (p.Ser529Trp) c.1670C>G (p.Ser557Trp) c.1508C>G (p.Ser503Trp) c.1295C>G (p.Ser432Trp) c.1472C>G (p.Ser491Trp) c.*811C>G (n.*811C>G) c.1412C>G (p.Ser471Trp) c.*944C>G (n.*944C>G) c.1227C>G (n.1227C>G) c.*909C>G (n.*909C>G) c.1490C>G (p.Ser497Trp) c.*770C>G (n.*770C>G) c.1598C>G (p.Ser533Trp) c.920C>G (p.Ser307Trp) c.1505C>G (p.Ser502Trp) c.1374C>G (n.1374C>G) c.182C>G (p.Ser61Trp) c.755C>G (p.Ser252Trp) c.1433C>G (p.Ser478Trp) c.1556C>G (p.Ser519Trp) c.830C>G (p.Ser277Trp) c.1436C>G (p.Ser479Trp) n.2423+2658G>C n.1795C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539411C>T | CA301867 | CACNB2,NSUN6 | c.1526C>T (p.Ser509Leu) c.1391C>T (p.Ser464Leu) c.1514C>T (p.Ser505Leu) c.1586C>T (p.Ser529Leu) c.1670C>T (p.Ser557Leu) c.1508C>T (p.Ser503Leu) c.1295C>T (p.Ser432Leu) c.1472C>T (p.Ser491Leu) c.*811C>T (n.*811C>T) c.1412C>T (p.Ser471Leu) c.*944C>T (n.*944C>T) c.1227C>T (n.1227C>T) c.*909C>T (n.*909C>T) c.1490C>T (p.Ser497Leu) c.*770C>T (n.*770C>T) c.1598C>T (p.Ser533Leu) c.920C>T (p.Ser307Leu) c.1505C>T (p.Ser502Leu) c.1374C>T (n.1374C>T) c.182C>T (p.Ser61Leu) c.755C>T (p.Ser252Leu) c.1433C>T (p.Ser478Leu) c.1556C>T (p.Ser519Leu) c.830C>T (p.Ser277Leu) c.1436C>T (p.Ser479Leu) n.2423+2658G>A n.1795C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539412G>A | CA5430124 | CACNB2,NSUN6 | c.1527G>A (p.Ser509=) c.1392G>A (p.Ser464=) c.1515G>A (p.Ser505=) c.1587G>A (p.Ser529=) c.1671G>A (p.Ser557=) c.1509G>A (p.Ser503=) c.1296G>A (p.Ser432=) c.1473G>A (p.Ser491=) c.*812G>A (n.*812G>A) c.1413G>A (p.Ser471=) c.*945G>A (n.*945G>A) c.1228G>A (n.1228G>A) c.*910G>A (n.*910G>A) c.1491G>A (p.Ser497=) c.*771G>A (n.*771G>A) c.1599G>A (p.Ser533=) c.921G>A (p.Ser307=) c.1506G>A (p.Ser502=) c.1375G>A (n.1375G>A) c.183G>A (p.Ser61=) c.756G>A (p.Ser252=) c.1434G>A (p.Ser478=) c.1557G>A (p.Ser519=) c.831G>A (p.Ser277=) c.1437G>A (p.Ser479=) n.2423+2657C>T n.1796G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539412G>C | CA468628245 | CACNB2,NSUN6 | c.1527G>C (p.Ser509=) c.1392G>C (p.Ser464=) c.1515G>C (p.Ser505=) c.1587G>C (p.Ser529=) c.1671G>C (p.Ser557=) c.1509G>C (p.Ser503=) c.1296G>C (p.Ser432=) c.1473G>C (p.Ser491=) c.*812G>C (n.*812G>C) c.1413G>C (p.Ser471=) c.*945G>C (n.*945G>C) c.1228G>C (n.1228G>C) c.*910G>C (n.*910G>C) c.1491G>C (p.Ser497=) c.*771G>C (n.*771G>C) c.1599G>C (p.Ser533=) c.921G>C (p.Ser307=) c.1506G>C (p.Ser502=) c.1375G>C (n.1375G>C) c.183G>C (p.Ser61=) c.756G>C (p.Ser252=) c.1434G>C (p.Ser478=) c.1557G>C (p.Ser519=) c.831G>C (p.Ser277=) c.1437G>C (p.Ser479=) n.2423+2657C>G n.1796G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539412G= | CA1894173309 | CACNB2,NSUN6 | c.1527G= (p.Ser509=) c.1392G= (p.Ser464=) c.1515G= (p.Ser505=) c.1587G= (p.Ser529=) c.1671G= (p.Ser557=) c.1509G= (p.Ser503=) c.1296G= (p.Ser432=) c.1473G= (p.Ser491=) c.*812G= (n.*812G=) c.1413G= (p.Ser471=) c.*945G= (n.*945G=) c.1228G= (n.1228G=) c.*910G= (n.*910G=) c.1491G= (p.Ser497=) c.*771G= (n.*771G=) c.1599G= (p.Ser533=) c.921G= (p.Ser307=) c.1506G= (p.Ser502=) c.1375G= (n.1375G=) c.183G= (p.Ser61=) c.756G= (p.Ser252=) c.1434G= (p.Ser478=) c.1557G= (p.Ser519=) c.831G= (p.Ser277=) c.1437G= (p.Ser479=) n.2423+2657C= n.1796G= | |
10 | g.18539412G>T | CA468628246 | CACNB2,NSUN6 | c.1527G>T (p.Ser509=) c.1392G>T (p.Ser464=) c.1515G>T (p.Ser505=) c.1587G>T (p.Ser529=) c.1671G>T (p.Ser557=) c.1509G>T (p.Ser503=) c.1296G>T (p.Ser432=) c.1473G>T (p.Ser491=) c.*812G>T (n.*812G>T) c.1413G>T (p.Ser471=) c.*945G>T (n.*945G>T) c.1228G>T (n.1228G>T) c.*910G>T (n.*910G>T) c.1491G>T (p.Ser497=) c.*771G>T (n.*771G>T) c.1599G>T (p.Ser533=) c.921G>T (p.Ser307=) c.1506G>T (p.Ser502=) c.1375G>T (n.1375G>T) c.183G>T (p.Ser61=) c.756G>T (p.Ser252=) c.1434G>T (p.Ser478=) c.1557G>T (p.Ser519=) c.831G>T (p.Ser277=) c.1437G>T (p.Ser479=) n.2423+2657C>A n.1796G>T | |
10 | g.18539413G>A | CA376071695 | CACNB2,NSUN6 | c.1528G>A (p.Glu510Lys) c.1393G>A (p.Glu465Lys) c.1516G>A (p.Glu506Lys) c.1588G>A (p.Glu530Lys) c.1672G>A (p.Glu558Lys) c.1510G>A (p.Glu504Lys) c.1297G>A (p.Glu433Lys) c.1474G>A (p.Glu492Lys) c.*813G>A (n.*813G>A) c.1414G>A (p.Glu472Lys) c.*946G>A (n.*946G>A) c.1229G>A (n.1229G>A) c.*911G>A (n.*911G>A) c.1492G>A (p.Glu498Lys) c.*772G>A (n.*772G>A) c.1600G>A (p.Glu534Lys) c.922G>A (p.Glu308Lys) c.1507G>A (p.Glu503Lys) c.1376G>A (n.1376G>A) c.184G>A (p.Glu62Lys) c.757G>A (p.Glu253Lys) c.1435G>A (p.Glu479Lys) c.1558G>A (p.Glu520Lys) c.832G>A (p.Glu278Lys) c.1438G>A (p.Glu480Lys) n.2423+2656C>T n.1797G>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.18539413G>C | CA376071696 | CACNB2,NSUN6 | c.1528G>C (p.Glu510Gln) c.1393G>C (p.Glu465Gln) c.1516G>C (p.Glu506Gln) c.1588G>C (p.Glu530Gln) c.1672G>C (p.Glu558Gln) c.1510G>C (p.Glu504Gln) c.1297G>C (p.Glu433Gln) c.1474G>C (p.Glu492Gln) c.*813G>C (n.*813G>C) c.1414G>C (p.Glu472Gln) c.*946G>C (n.*946G>C) c.1229G>C (n.1229G>C) c.*911G>C (n.*911G>C) c.1492G>C (p.Glu498Gln) c.*772G>C (n.*772G>C) c.1600G>C (p.Glu534Gln) c.922G>C (p.Glu308Gln) c.1507G>C (p.Glu503Gln) c.1376G>C (n.1376G>C) c.184G>C (p.Glu62Gln) c.757G>C (p.Glu253Gln) c.1435G>C (p.Glu479Gln) c.1558G>C (p.Glu520Gln) c.832G>C (p.Glu278Gln) c.1438G>C (p.Glu480Gln) n.2423+2656C>G n.1797G>C | gnomAD v4 |
10 | g.18539413G= | CA1894173310 | CACNB2,NSUN6 | c.1528G= (p.Glu510=) c.1393G= (p.Glu465=) c.1516G= (p.Glu506=) c.1588G= (p.Glu530=) c.1672G= (p.Glu558=) c.1510G= (p.Glu504=) c.1297G= (p.Glu433=) c.1474G= (p.Glu492=) c.*813G= (n.*813G=) c.1414G= (p.Glu472=) c.*946G= (n.*946G=) c.1229G= (n.1229G=) c.*911G= (n.*911G=) c.1492G= (p.Glu498=) c.*772G= (n.*772G=) c.1600G= (p.Glu534=) c.922G= (p.Glu308=) c.1507G= (p.Glu503=) c.1376G= (n.1376G=) c.184G= (p.Glu62=) c.757G= (p.Glu253=) c.1435G= (p.Glu479=) c.1558G= (p.Glu520=) c.832G= (p.Glu278=) c.1438G= (p.Glu480=) n.2423+2656C= n.1797G= | |
10 | g.18539413G>T | CA376071698 | CACNB2,NSUN6 | c.1528G>T (p.Glu510Ter) c.1393G>T (p.Glu465Ter) c.1516G>T (p.Glu506Ter) c.1588G>T (p.Glu530Ter) c.1672G>T (p.Glu558Ter) c.1510G>T (p.Glu504Ter) c.1297G>T (p.Glu433Ter) c.1474G>T (p.Glu492Ter) c.*813G>T (n.*813G>T) c.1414G>T (p.Glu472Ter) c.*946G>T (n.*946G>T) c.1229G>T (n.1229G>T) c.*911G>T (n.*911G>T) c.1492G>T (p.Glu498Ter) c.*772G>T (n.*772G>T) c.1600G>T (p.Glu534Ter) c.922G>T (p.Glu308Ter) c.1507G>T (p.Glu503Ter) c.1376G>T (n.1376G>T) c.184G>T (p.Glu62Ter) c.757G>T (p.Glu253Ter) c.1435G>T (p.Glu479Ter) c.1558G>T (p.Glu520Ter) c.832G>T (p.Glu278Ter) c.1438G>T (p.Glu480Ter) n.2423+2656C>A n.1797G>T | dbSNP |
10 | g.18539414A>C | CA376071700 | CACNB2,NSUN6 | c.1529A>C (p.Glu510Ala) c.1394A>C (p.Glu465Ala) c.1517A>C (p.Glu506Ala) c.1589A>C (p.Glu530Ala) c.1673A>C (p.Glu558Ala) c.1511A>C (p.Glu504Ala) c.1298A>C (p.Glu433Ala) c.1475A>C (p.Glu492Ala) c.*814A>C (n.*814A>C) c.1415A>C (p.Glu472Ala) c.*947A>C (n.*947A>C) c.1230A>C (n.1230A>C) c.*912A>C (n.*912A>C) c.1493A>C (p.Glu498Ala) c.*773A>C (n.*773A>C) c.1601A>C (p.Glu534Ala) c.923A>C (p.Glu308Ala) c.1508A>C (p.Glu503Ala) c.1377A>C (n.1377A>C) c.185A>C (p.Glu62Ala) c.758A>C (p.Glu253Ala) c.1436A>C (p.Glu479Ala) c.1559A>C (p.Glu520Ala) c.833A>C (p.Glu278Ala) c.1439A>C (p.Glu480Ala) n.2423+2655T>G n.1798A>C | gnomAD v4 |
10 | g.18539414A>G | CA376071701 | CACNB2,NSUN6 | c.1529A>G (p.Glu510Gly) c.1394A>G (p.Glu465Gly) c.1517A>G (p.Glu506Gly) c.1589A>G (p.Glu530Gly) c.1673A>G (p.Glu558Gly) c.1511A>G (p.Glu504Gly) c.1298A>G (p.Glu433Gly) c.1475A>G (p.Glu492Gly) c.*814A>G (n.*814A>G) c.1415A>G (p.Glu472Gly) c.*947A>G (n.*947A>G) c.1230A>G (n.1230A>G) c.*912A>G (n.*912A>G) c.1493A>G (p.Glu498Gly) c.*773A>G (n.*773A>G) c.1601A>G (p.Glu534Gly) c.923A>G (p.Glu308Gly) c.1508A>G (p.Glu503Gly) c.1377A>G (n.1377A>G) c.185A>G (p.Glu62Gly) c.758A>G (p.Glu253Gly) c.1436A>G (p.Glu479Gly) c.1559A>G (p.Glu520Gly) c.833A>G (p.Glu278Gly) c.1439A>G (p.Glu480Gly) n.2423+2655T>C n.1798A>G | |
10 | g.18539414A>T | CA376071703 | CACNB2,NSUN6 | c.1529A>T (p.Glu510Val) c.1394A>T (p.Glu465Val) c.1517A>T (p.Glu506Val) c.1589A>T (p.Glu530Val) c.1673A>T (p.Glu558Val) c.1511A>T (p.Glu504Val) c.1298A>T (p.Glu433Val) c.1475A>T (p.Glu492Val) c.*814A>T (n.*814A>T) c.1415A>T (p.Glu472Val) c.*947A>T (n.*947A>T) c.1230A>T (n.1230A>T) c.*912A>T (n.*912A>T) c.1493A>T (p.Glu498Val) c.*773A>T (n.*773A>T) c.1601A>T (p.Glu534Val) c.923A>T (p.Glu308Val) c.1508A>T (p.Glu503Val) c.1377A>T (n.1377A>T) c.185A>T (p.Glu62Val) c.758A>T (p.Glu253Val) c.1436A>T (p.Glu479Val) c.1559A>T (p.Glu520Val) c.833A>T (p.Glu278Val) c.1439A>T (p.Glu480Val) n.2423+2655T>A n.1798A>T | |
10 | g.18539415A>C | CA376071704 | CACNB2,NSUN6 | c.1530A>C (p.Glu510Asp) c.1395A>C (p.Glu465Asp) c.1518A>C (p.Glu506Asp) c.1590A>C (p.Glu530Asp) c.1674A>C (p.Glu558Asp) c.1512A>C (p.Glu504Asp) c.1299A>C (p.Glu433Asp) c.1476A>C (p.Glu492Asp) c.*815A>C (n.*815A>C) c.1416A>C (p.Glu472Asp) c.*948A>C (n.*948A>C) c.1231A>C (n.1231A>C) c.*913A>C (n.*913A>C) c.1494A>C (p.Glu498Asp) c.*774A>C (n.*774A>C) c.1602A>C (p.Glu534Asp) c.924A>C (p.Glu308Asp) c.1509A>C (p.Glu503Asp) c.1378A>C (n.1378A>C) c.186A>C (p.Glu62Asp) c.759A>C (p.Glu253Asp) c.1437A>C (p.Glu479Asp) c.1560A>C (p.Glu520Asp) c.834A>C (p.Glu278Asp) c.1440A>C (p.Glu480Asp) n.2423+2654T>G n.1799A>C | |
10 | g.18539415A>G | CA468628264 | CACNB2,NSUN6 | c.1530A>G (p.Glu510=) c.1395A>G (p.Glu465=) c.1518A>G (p.Glu506=) c.1590A>G (p.Glu530=) c.1674A>G (p.Glu558=) c.1512A>G (p.Glu504=) c.1299A>G (p.Glu433=) c.1476A>G (p.Glu492=) c.*815A>G (n.*815A>G) c.1416A>G (p.Glu472=) c.*948A>G (n.*948A>G) c.1231A>G (n.1231A>G) c.*913A>G (n.*913A>G) c.1494A>G (p.Glu498=) c.*774A>G (n.*774A>G) c.1602A>G (p.Glu534=) c.924A>G (p.Glu308=) c.1509A>G (p.Glu503=) c.1378A>G (n.1378A>G) c.186A>G (p.Glu62=) c.759A>G (p.Glu253=) c.1437A>G (p.Glu479=) c.1560A>G (p.Glu520=) c.834A>G (p.Glu278=) c.1440A>G (p.Glu480=) n.2423+2654T>C n.1799A>G | |
10 | g.18539415A>T | CA376071706 | CACNB2,NSUN6 | c.1530A>T (p.Glu510Asp) c.1395A>T (p.Glu465Asp) c.1518A>T (p.Glu506Asp) c.1590A>T (p.Glu530Asp) c.1674A>T (p.Glu558Asp) c.1512A>T (p.Glu504Asp) c.1299A>T (p.Glu433Asp) c.1476A>T (p.Glu492Asp) c.*815A>T (n.*815A>T) c.1416A>T (p.Glu472Asp) c.*948A>T (n.*948A>T) c.1231A>T (n.1231A>T) c.*913A>T (n.*913A>T) c.1494A>T (p.Glu498Asp) c.*774A>T (n.*774A>T) c.1602A>T (p.Glu534Asp) c.924A>T (p.Glu308Asp) c.1509A>T (p.Glu503Asp) c.1378A>T (n.1378A>T) c.186A>T (p.Glu62Asp) c.759A>T (p.Glu253Asp) c.1437A>T (p.Glu479Asp) c.1560A>T (p.Glu520Asp) c.834A>T (p.Glu278Asp) c.1440A>T (p.Glu480Asp) n.2423+2654T>A n.1799A>T | |
10 | g.18539416A>C | CA376071708 | CACNB2,NSUN6 | c.1531A>C (p.Thr511Pro) c.1396A>C (p.Thr466Pro) c.1519A>C (p.Thr507Pro) c.1591A>C (p.Thr531Pro) c.1675A>C (p.Thr559Pro) c.1513A>C (p.Thr505Pro) c.1300A>C (p.Thr434Pro) c.1477A>C (p.Thr493Pro) c.*816A>C (n.*816A>C) c.1417A>C (p.Thr473Pro) c.*949A>C (n.*949A>C) c.1232A>C (n.1232A>C) c.*914A>C (n.*914A>C) c.1495A>C (p.Thr499Pro) c.*775A>C (n.*775A>C) c.1603A>C (p.Thr535Pro) c.925A>C (p.Thr309Pro) c.1510A>C (p.Thr504Pro) c.1379A>C (n.1379A>C) c.187A>C (p.Thr63Pro) c.760A>C (p.Thr254Pro) c.1438A>C (p.Thr480Pro) c.1561A>C (p.Thr521Pro) c.835A>C (p.Thr279Pro) c.1441A>C (p.Thr481Pro) n.2423+2653T>G n.1800A>C | |
10 | g.18539416A>G | CA376071709 | CACNB2,NSUN6 | c.1531A>G (p.Thr511Ala) c.1396A>G (p.Thr466Ala) c.1519A>G (p.Thr507Ala) c.1591A>G (p.Thr531Ala) c.1675A>G (p.Thr559Ala) c.1513A>G (p.Thr505Ala) c.1300A>G (p.Thr434Ala) c.1477A>G (p.Thr493Ala) c.*816A>G (n.*816A>G) c.1417A>G (p.Thr473Ala) c.*949A>G (n.*949A>G) c.1232A>G (n.1232A>G) c.*914A>G (n.*914A>G) c.1495A>G (p.Thr499Ala) c.*775A>G (n.*775A>G) c.1603A>G (p.Thr535Ala) c.925A>G (p.Thr309Ala) c.1510A>G (p.Thr504Ala) c.1379A>G (n.1379A>G) c.187A>G (p.Thr63Ala) c.760A>G (p.Thr254Ala) c.1438A>G (p.Thr480Ala) c.1561A>G (p.Thr521Ala) c.835A>G (p.Thr279Ala) c.1441A>G (p.Thr481Ala) n.2423+2653T>C n.1800A>G | |
10 | g.18539416A>T | CA376071711 | CACNB2,NSUN6 | c.1531A>T (p.Thr511Ser) c.1396A>T (p.Thr466Ser) c.1519A>T (p.Thr507Ser) c.1591A>T (p.Thr531Ser) c.1675A>T (p.Thr559Ser) c.1513A>T (p.Thr505Ser) c.1300A>T (p.Thr434Ser) c.1477A>T (p.Thr493Ser) c.*816A>T (n.*816A>T) c.1417A>T (p.Thr473Ser) c.*949A>T (n.*949A>T) c.1232A>T (n.1232A>T) c.*914A>T (n.*914A>T) c.1495A>T (p.Thr499Ser) c.*775A>T (n.*775A>T) c.1603A>T (p.Thr535Ser) c.925A>T (p.Thr309Ser) c.1510A>T (p.Thr504Ser) c.1379A>T (n.1379A>T) c.187A>T (p.Thr63Ser) c.760A>T (p.Thr254Ser) c.1438A>T (p.Thr480Ser) c.1561A>T (p.Thr521Ser) c.835A>T (p.Thr279Ser) c.1441A>T (p.Thr481Ser) n.2423+2653T>A n.1800A>T | |
10 | g.18539417C>A | CA376071713 | CACNB2,NSUN6 | c.1532C>A (p.Thr511Asn) c.1397C>A (p.Thr466Asn) c.1520C>A (p.Thr507Asn) c.1592C>A (p.Thr531Asn) c.1676C>A (p.Thr559Asn) c.1514C>A (p.Thr505Asn) c.1301C>A (p.Thr434Asn) c.1478C>A (p.Thr493Asn) c.*817C>A (n.*817C>A) c.1418C>A (p.Thr473Asn) c.*950C>A (n.*950C>A) c.1233C>A (n.1233C>A) c.*915C>A (n.*915C>A) c.1496C>A (p.Thr499Asn) c.*776C>A (n.*776C>A) c.1604C>A (p.Thr535Asn) c.926C>A (p.Thr309Asn) c.1511C>A (p.Thr504Asn) c.1380C>A (n.1380C>A) c.188C>A (p.Thr63Asn) c.761C>A (p.Thr254Asn) c.1439C>A (p.Thr480Asn) c.1562C>A (p.Thr521Asn) c.836C>A (p.Thr279Asn) c.1442C>A (p.Thr481Asn) n.2423+2652G>T n.1801C>A | |
10 | g.18539417C>G | CA376071715 | CACNB2,NSUN6 | c.1532C>G (p.Thr511Ser) c.1397C>G (p.Thr466Ser) c.1520C>G (p.Thr507Ser) c.1592C>G (p.Thr531Ser) c.1676C>G (p.Thr559Ser) c.1514C>G (p.Thr505Ser) c.1301C>G (p.Thr434Ser) c.1478C>G (p.Thr493Ser) c.*817C>G (n.*817C>G) c.1418C>G (p.Thr473Ser) c.*950C>G (n.*950C>G) c.1233C>G (n.1233C>G) c.*915C>G (n.*915C>G) c.1496C>G (p.Thr499Ser) c.*776C>G (n.*776C>G) c.1604C>G (p.Thr535Ser) c.926C>G (p.Thr309Ser) c.1511C>G (p.Thr504Ser) c.1380C>G (n.1380C>G) c.188C>G (p.Thr63Ser) c.761C>G (p.Thr254Ser) c.1439C>G (p.Thr480Ser) c.1562C>G (p.Thr521Ser) c.836C>G (p.Thr279Ser) c.1442C>G (p.Thr481Ser) n.2423+2652G>C n.1801C>G | |
10 | g.18539417C>T | CA376071716 | CACNB2,NSUN6 | c.1532C>T (p.Thr511Ile) c.1397C>T (p.Thr466Ile) c.1520C>T (p.Thr507Ile) c.1592C>T (p.Thr531Ile) c.1676C>T (p.Thr559Ile) c.1514C>T (p.Thr505Ile) c.1301C>T (p.Thr434Ile) c.1478C>T (p.Thr493Ile) c.*817C>T (n.*817C>T) c.1418C>T (p.Thr473Ile) c.*950C>T (n.*950C>T) c.1233C>T (n.1233C>T) c.*915C>T (n.*915C>T) c.1496C>T (p.Thr499Ile) c.*776C>T (n.*776C>T) c.1604C>T (p.Thr535Ile) c.926C>T (p.Thr309Ile) c.1511C>T (p.Thr504Ile) c.1380C>T (n.1380C>T) c.188C>T (p.Thr63Ile) c.761C>T (p.Thr254Ile) c.1439C>T (p.Thr480Ile) c.1562C>T (p.Thr521Ile) c.836C>T (p.Thr279Ile) c.1442C>T (p.Thr481Ile) n.2423+2652G>A n.1801C>T | |
10 | g.18539418C>A | CA468628993 | CACNB2,NSUN6 | c.1533C>A (p.Thr511=) c.1398C>A (p.Thr466=) c.1521C>A (p.Thr507=) c.1593C>A (p.Thr531=) c.1677C>A (p.Thr559=) c.1515C>A (p.Thr505=) c.1302C>A (p.Thr434=) c.1479C>A (p.Thr493=) c.*818C>A (n.*818C>A) c.1419C>A (p.Thr473=) c.*951C>A (n.*951C>A) c.1234C>A (n.1234C>A) c.*916C>A (n.*916C>A) c.1497C>A (p.Thr499=) c.*777C>A (n.*777C>A) c.1605C>A (p.Thr535=) c.927C>A (p.Thr309=) c.1512C>A (p.Thr504=) c.1381C>A (n.1381C>A) c.189C>A (p.Thr63=) c.762C>A (p.Thr254=) c.1440C>A (p.Thr480=) c.1563C>A (p.Thr521=) c.837C>A (p.Thr279=) c.1443C>A (p.Thr481=) n.2423+2651G>T n.1802C>A | |
10 | g.18539418C>G | CA468629002 | CACNB2,NSUN6 | c.1533C>G (p.Thr511=) c.1398C>G (p.Thr466=) c.1521C>G (p.Thr507=) c.1593C>G (p.Thr531=) c.1677C>G (p.Thr559=) c.1515C>G (p.Thr505=) c.1302C>G (p.Thr434=) c.1479C>G (p.Thr493=) c.*818C>G (n.*818C>G) c.1419C>G (p.Thr473=) c.*951C>G (n.*951C>G) c.1234C>G (n.1234C>G) c.*916C>G (n.*916C>G) c.1497C>G (p.Thr499=) c.*777C>G (n.*777C>G) c.1605C>G (p.Thr535=) c.927C>G (p.Thr309=) c.1512C>G (p.Thr504=) c.1381C>G (n.1381C>G) c.189C>G (p.Thr63=) c.762C>G (p.Thr254=) c.1440C>G (p.Thr480=) c.1563C>G (p.Thr521=) c.837C>G (p.Thr279=) c.1443C>G (p.Thr481=) n.2423+2651G>C n.1802C>G | |
10 | g.18539418C>T | CA468629005 | CACNB2,NSUN6 | c.1533C>T (p.Thr511=) c.1398C>T (p.Thr466=) c.1521C>T (p.Thr507=) c.1593C>T (p.Thr531=) c.1677C>T (p.Thr559=) c.1515C>T (p.Thr505=) c.1302C>T (p.Thr434=) c.1479C>T (p.Thr493=) c.*818C>T (n.*818C>T) c.1419C>T (p.Thr473=) c.*951C>T (n.*951C>T) c.1234C>T (n.1234C>T) c.*916C>T (n.*916C>T) c.1497C>T (p.Thr499=) c.*777C>T (n.*777C>T) c.1605C>T (p.Thr535=) c.927C>T (p.Thr309=) c.1512C>T (p.Thr504=) c.1381C>T (n.1381C>T) c.189C>T (p.Thr63=) c.762C>T (p.Thr254=) c.1440C>T (p.Thr480=) c.1563C>T (p.Thr521=) c.837C>T (p.Thr279=) c.1443C>T (p.Thr481=) n.2423+2651G>A n.1802C>T | |
10 | g.18539419C>A | CA376071719 | CACNB2,NSUN6 | c.1534C>A (p.Gln512Lys) c.1399C>A (p.Gln467Lys) c.1522C>A (p.Gln508Lys) c.1594C>A (p.Gln532Lys) c.1678C>A (p.Gln560Lys) c.1516C>A (p.Gln506Lys) c.1303C>A (p.Gln435Lys) c.1480C>A (p.Gln494Lys) c.*819C>A (n.*819C>A) c.1420C>A (p.Gln474Lys) c.*952C>A (n.*952C>A) c.1235C>A (n.1235C>A) c.*917C>A (n.*917C>A) c.1498C>A (p.Gln500Lys) c.*778C>A (n.*778C>A) c.1606C>A (p.Gln536Lys) c.928C>A (p.Gln310Lys) c.1513C>A (p.Gln505Lys) c.1382C>A (n.1382C>A) c.190C>A (p.Gln64Lys) c.763C>A (p.Gln255Lys) c.1441C>A (p.Gln481Lys) c.1564C>A (p.Gln522Lys) c.838C>A (p.Gln280Lys) c.1444C>A (p.Gln482Lys) n.2423+2650G>T n.1803C>A | |
10 | g.18539419C>G | CA376071720 | CACNB2,NSUN6 | c.1534C>G (p.Gln512Glu) c.1399C>G (p.Gln467Glu) c.1522C>G (p.Gln508Glu) c.1594C>G (p.Gln532Glu) c.1678C>G (p.Gln560Glu) c.1516C>G (p.Gln506Glu) c.1303C>G (p.Gln435Glu) c.1480C>G (p.Gln494Glu) c.*819C>G (n.*819C>G) c.1420C>G (p.Gln474Glu) c.*952C>G (n.*952C>G) c.1235C>G (n.1235C>G) c.*917C>G (n.*917C>G) c.1498C>G (p.Gln500Glu) c.*778C>G (n.*778C>G) c.1606C>G (p.Gln536Glu) c.928C>G (p.Gln310Glu) c.1513C>G (p.Gln505Glu) c.1382C>G (n.1382C>G) c.190C>G (p.Gln64Glu) c.763C>G (p.Gln255Glu) c.1441C>G (p.Gln481Glu) c.1564C>G (p.Gln522Glu) c.838C>G (p.Gln280Glu) c.1444C>G (p.Gln482Glu) n.2423+2650G>C n.1803C>G | |
10 | g.18539419C>T | CA376071722 | CACNB2,NSUN6 | c.1534C>T (p.Gln512Ter) c.1399C>T (p.Gln467Ter) c.1522C>T (p.Gln508Ter) c.1594C>T (p.Gln532Ter) c.1678C>T (p.Gln560Ter) c.1516C>T (p.Gln506Ter) c.1303C>T (p.Gln435Ter) c.1480C>T (p.Gln494Ter) c.*819C>T (n.*819C>T) c.1420C>T (p.Gln474Ter) c.*952C>T (n.*952C>T) c.1235C>T (n.1235C>T) c.*917C>T (n.*917C>T) c.1498C>T (p.Gln500Ter) c.*778C>T (n.*778C>T) c.1606C>T (p.Gln536Ter) c.928C>T (p.Gln310Ter) c.1513C>T (p.Gln505Ter) c.1382C>T (n.1382C>T) c.190C>T (p.Gln64Ter) c.763C>T (p.Gln255Ter) c.1441C>T (p.Gln481Ter) c.1564C>T (p.Gln522Ter) c.838C>T (p.Gln280Ter) c.1444C>T (p.Gln482Ter) n.2423+2650G>A n.1803C>T | |
10 | g.18539419_18539422delinsCAGG | CA1894173312 | CACNB2,NSUN6 | c.1534_1537delinsCAGG (p.Gln512=) c.1399_1402delinsCAGG (p.Gln467=) c.1522_1525delinsCAGG (p.Gln508=) c.1594_1597delinsCAGG (p.Gln532=) c.1678_1681delinsCAGG (p.Gln560=) c.1516_1519delinsCAGG (p.Gln506=) c.1303_1306delinsCAGG (p.Gln435=) c.1480_1483delinsCAGG (p.Gln494=) c.*819_*822delinsCAGG (n.*819_*822delinsCAGG) c.1420_1423delinsCAGG (p.Gln474=) c.*952_*955delinsCAGG (n.*952_*955delinsCAGG) c.1235_1238delinsCAGG (n.1235_1238delinsCAGG) c.*917_*920delinsCAGG (n.*917_*920delinsCAGG) c.1498_1501delinsCAGG (p.Gln500=) c.*778_*781delinsCAGG (n.*778_*781delinsCAGG) c.1606_1609delinsCAGG (p.Gln536=) c.928_931delinsCAGG (p.Gln310=) c.1513_1516delinsCAGG (p.Gln505=) c.1382_1385delinsCAGG (n.1382_1385delinsCAGG) c.190_193delinsCAGG (p.Gln64=) c.763_766delinsCAGG (p.Gln255=) c.1441_1444delinsCAGG (p.Gln481=) c.1564_1567delinsCAGG (p.Gln522=) c.838_841delinsCAGG (p.Gln280=) c.1444_1447delinsCAGG (p.Gln482=) n.2423+2647_2423+2650delinsCCTG n.1803_1806delinsCAGG | |
10 | g.18539420A= | CA1894173320 | CACNB2,NSUN6 | c.1535A= (p.Gln512=) c.1400A= (p.Gln467=) c.1523A= (p.Gln508=) c.1595A= (p.Gln532=) c.1679A= (p.Gln560=) c.1517A= (p.Gln506=) c.1304A= (p.Gln435=) c.1481A= (p.Gln494=) c.*820A= (n.*820A=) c.1421A= (p.Gln474=) c.*953A= (n.*953A=) c.1236A= (n.1236A=) c.*918A= (n.*918A=) c.1499A= (p.Gln500=) c.*779A= (n.*779A=) c.1607A= (p.Gln536=) c.929A= (p.Gln310=) c.1514A= (p.Gln505=) c.1383A= (n.1383A=) c.191A= (p.Gln64=) c.764A= (p.Gln255=) c.1442A= (p.Gln481=) c.1565A= (p.Gln522=) c.839A= (p.Gln280=) c.1445A= (p.Gln482=) n.2423+2649T= n.1804A= | |
10 | g.18539420A>C | CA376071723 | CACNB2,NSUN6 | c.1535A>C (p.Gln512Pro) c.1400A>C (p.Gln467Pro) c.1523A>C (p.Gln508Pro) c.1595A>C (p.Gln532Pro) c.1679A>C (p.Gln560Pro) c.1517A>C (p.Gln506Pro) c.1304A>C (p.Gln435Pro) c.1481A>C (p.Gln494Pro) c.*820A>C (n.*820A>C) c.1421A>C (p.Gln474Pro) c.*953A>C (n.*953A>C) c.1236A>C (n.1236A>C) c.*918A>C (n.*918A>C) c.1499A>C (p.Gln500Pro) c.*779A>C (n.*779A>C) c.1607A>C (p.Gln536Pro) c.929A>C (p.Gln310Pro) c.1514A>C (p.Gln505Pro) c.1383A>C (n.1383A>C) c.191A>C (p.Gln64Pro) c.764A>C (p.Gln255Pro) c.1442A>C (p.Gln481Pro) c.1565A>C (p.Gln522Pro) c.839A>C (p.Gln280Pro) c.1445A>C (p.Gln482Pro) n.2423+2649T>G n.1804A>C | |
10 | g.18539420A>G | CA5430125 | CACNB2,NSUN6 | c.1535A>G (p.Gln512Arg) c.1400A>G (p.Gln467Arg) c.1523A>G (p.Gln508Arg) c.1595A>G (p.Gln532Arg) c.1679A>G (p.Gln560Arg) c.1517A>G (p.Gln506Arg) c.1304A>G (p.Gln435Arg) c.1481A>G (p.Gln494Arg) c.*820A>G (n.*820A>G) c.1421A>G (p.Gln474Arg) c.*953A>G (n.*953A>G) c.1236A>G (n.1236A>G) c.*918A>G (n.*918A>G) c.1499A>G (p.Gln500Arg) c.*779A>G (n.*779A>G) c.1607A>G (p.Gln536Arg) c.929A>G (p.Gln310Arg) c.1514A>G (p.Gln505Arg) c.1383A>G (n.1383A>G) c.191A>G (p.Gln64Arg) c.764A>G (p.Gln255Arg) c.1442A>G (p.Gln481Arg) c.1565A>G (p.Gln522Arg) c.839A>G (p.Gln280Arg) c.1445A>G (p.Gln482Arg) n.2423+2649T>C n.1804A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.18539420A>T | CA376071724 | CACNB2,NSUN6 | c.1535A>T (p.Gln512Leu) c.1400A>T (p.Gln467Leu) c.1523A>T (p.Gln508Leu) c.1595A>T (p.Gln532Leu) c.1679A>T (p.Gln560Leu) c.1517A>T (p.Gln506Leu) c.1304A>T (p.Gln435Leu) c.1481A>T (p.Gln494Leu) c.*820A>T (n.*820A>T) c.1421A>T (p.Gln474Leu) c.*953A>T (n.*953A>T) c.1236A>T (n.1236A>T) c.*918A>T (n.*918A>T) c.1499A>T (p.Gln500Leu) c.*779A>T (n.*779A>T) c.1607A>T (p.Gln536Leu) c.929A>T (p.Gln310Leu) c.1514A>T (p.Gln505Leu) c.1383A>T (n.1383A>T) c.191A>T (p.Gln64Leu) c.764A>T (p.Gln255Leu) c.1442A>T (p.Gln481Leu) c.1565A>T (p.Gln522Leu) c.839A>T (p.Gln280Leu) c.1445A>T (p.Gln482Leu) n.2423+2649T>A n.1804A>T | |
10 | g.18539422_18539424del | CA1894173319 | CACNB2,NSUN6 | c.1537_1539del (p.Glu513del) c.1402_1404del (p.Glu468del) c.1525_1527del (p.Glu509del) c.1597_1599del (p.Glu533del) c.1681_1683del (p.Glu561del) c.1519_1521del (p.Glu507del) c.1306_1308del (p.Glu436del) c.1483_1485del (p.Glu495del) c.*822_*824del (n.*822_*824del) c.1423_1425del (p.Glu475del) c.*955_*957del (n.*955_*957del) c.1238_1240del (n.1238_1240del) c.*920_*922del (n.*920_*922del) c.1501_1503del (p.Glu501del) c.*781_*783del (n.*781_*783del) c.1609_1611del (p.Glu537del) c.931_933del (p.Glu311del) c.1516_1518del (p.Glu506del) c.1385_1387del (n.1385_1387del) c.193_195del (p.Glu65del) c.766_768del (p.Glu256del) c.1444_1446del (p.Glu482del) c.1567_1569del (p.Glu523del) c.841_843del (p.Glu281del) c.1447_1449del (p.Glu483del) n.2423+2647_2423+2649del n.1806_1808del | dbSNP |
10 | g.18539421G>A | CA468629012 | CACNB2,NSUN6 | c.1536G>A (p.Gln512=) c.1401G>A (p.Gln467=) c.1524G>A (p.Gln508=) c.1596G>A (p.Gln532=) c.1680G>A (p.Gln560=) c.1518G>A (p.Gln506=) c.1305G>A (p.Gln435=) c.1482G>A (p.Gln494=) c.*821G>A (n.*821G>A) c.1422G>A (p.Gln474=) c.*954G>A (n.*954G>A) c.1237G>A (n.1237G>A) c.*919G>A (n.*919G>A) c.1500G>A (p.Gln500=) c.*780G>A (n.*780G>A) c.1608G>A (p.Gln536=) c.930G>A (p.Gln310=) c.1515G>A (p.Gln505=) c.1384G>A (n.1384G>A) c.192G>A (p.Gln64=) c.765G>A (p.Gln255=) c.1443G>A (p.Gln481=) c.1566G>A (p.Gln522=) c.840G>A (p.Gln280=) c.1446G>A (p.Gln482=) n.2423+2648C>T n.1805G>A | |
10 | g.18539421G>C | CA376071728 | CACNB2,NSUN6 | c.1536G>C (p.Gln512His) c.1401G>C (p.Gln467His) c.1524G>C (p.Gln508His) c.1596G>C (p.Gln532His) c.1680G>C (p.Gln560His) c.1518G>C (p.Gln506His) c.1305G>C (p.Gln435His) c.1482G>C (p.Gln494His) c.*821G>C (n.*821G>C) c.1422G>C (p.Gln474His) c.*954G>C (n.*954G>C) c.1237G>C (n.1237G>C) c.*919G>C (n.*919G>C) c.1500G>C (p.Gln500His) c.*780G>C (n.*780G>C) c.1608G>C (p.Gln536His) c.930G>C (p.Gln310His) c.1515G>C (p.Gln505His) c.1384G>C (n.1384G>C) c.192G>C (p.Gln64His) c.765G>C (p.Gln255His) c.1443G>C (p.Gln481His) c.1566G>C (p.Gln522His) c.840G>C (p.Gln280His) c.1446G>C (p.Gln482His) n.2423+2648C>G n.1805G>C | |
10 | g.18539421G= | CA1894173322 | CACNB2,NSUN6 | c.1536G= (p.Gln512=) c.1401G= (p.Gln467=) c.1524G= (p.Gln508=) c.1596G= (p.Gln532=) c.1680G= (p.Gln560=) c.1518G= (p.Gln506=) c.1305G= (p.Gln435=) c.1482G= (p.Gln494=) c.*821G= (n.*821G=) c.1422G= (p.Gln474=) c.*954G= (n.*954G=) c.1237G= (n.1237G=) c.*919G= (n.*919G=) c.1500G= (p.Gln500=) c.*780G= (n.*780G=) c.1608G= (p.Gln536=) c.930G= (p.Gln310=) c.1515G= (p.Gln505=) c.1384G= (n.1384G=) c.192G= (p.Gln64=) c.765G= (p.Gln255=) c.1443G= (p.Gln481=) c.1566G= (p.Gln522=) c.840G= (p.Gln280=) c.1446G= (p.Gln482=) n.2423+2648C= n.1805G= | |
10 | g.18539421G>T | CA376071726 | CACNB2,NSUN6 | c.1536G>T (p.Gln512His) c.1401G>T (p.Gln467His) c.1524G>T (p.Gln508His) c.1596G>T (p.Gln532His) c.1680G>T (p.Gln560His) c.1518G>T (p.Gln506His) c.1305G>T (p.Gln435His) c.1482G>T (p.Gln494His) c.*821G>T (n.*821G>T) c.1422G>T (p.Gln474His) c.*954G>T (n.*954G>T) c.1237G>T (n.1237G>T) c.*919G>T (n.*919G>T) c.1500G>T (p.Gln500His) c.*780G>T (n.*780G>T) c.1608G>T (p.Gln536His) c.930G>T (p.Gln310His) c.1515G>T (p.Gln505His) c.1384G>T (n.1384G>T) c.192G>T (p.Gln64His) c.765G>T (p.Gln255His) c.1443G>T (p.Gln481His) c.1566G>T (p.Gln522His) c.840G>T (p.Gln280His) c.1446G>T (p.Gln482His) n.2423+2648C>A n.1805G>T | |
10 | g.18539422del | CA2574454585 | CACNB2,NSUN6 | c.1537del (p.Glu513ArgfsTer8) c.1402del (p.Glu468ArgfsTer8) c.1525del (p.Glu509ArgfsTer8) c.1597del (p.Glu533ArgfsTer8) c.1681del (p.Glu561ArgfsTer8) c.1519del (p.Glu507ArgfsTer8) c.1306del (p.Glu436ArgfsTer8) c.1483del (p.Glu495ArgfsTer8) c.*822del (n.*822del) c.1423del (p.Glu475ArgfsTer8) c.*955del (n.*955del) c.1238del (n.1238del) c.*920del (n.*920del) c.1501del (p.Glu501ArgfsTer8) c.*781del (n.*781del) c.1609del (p.Glu537ArgfsTer8) c.931del (p.Glu311ArgfsTer8) c.1516del (p.Glu506ArgfsTer8) c.1385del (n.1385del) c.193del (p.Glu65ArgfsTer8) c.766del (p.Glu256ArgfsTer8) c.1444del (p.Glu482ArgfsTer8) c.1567del (p.Glu523ArgfsTer8) c.841del (p.Glu281ArgfsTer8) c.1447del (p.Glu483ArgfsTer8) n.2423+2648del n.1806del | |
10 | g.18539422G>A | CA5430126 | CACNB2,NSUN6 | c.1537G>A (p.Glu513Lys) c.1402G>A (p.Glu468Lys) c.1525G>A (p.Glu509Lys) c.1597G>A (p.Glu533Lys) c.1681G>A (p.Glu561Lys) c.1519G>A (p.Glu507Lys) c.1306G>A (p.Glu436Lys) c.1483G>A (p.Glu495Lys) c.*822G>A (n.*822G>A) c.1423G>A (p.Glu475Lys) c.*955G>A (n.*955G>A) c.1238G>A (n.1238G>A) c.*920G>A (n.*920G>A) c.1501G>A (p.Glu501Lys) c.*781G>A (n.*781G>A) c.1609G>A (p.Glu537Lys) c.931G>A (p.Glu311Lys) c.1516G>A (p.Glu506Lys) c.1385G>A (n.1385G>A) c.193G>A (p.Glu65Lys) c.766G>A (p.Glu256Lys) c.1444G>A (p.Glu482Lys) c.1567G>A (p.Glu523Lys) c.841G>A (p.Glu281Lys) c.1447G>A (p.Glu483Lys) n.2423+2647C>T n.1806G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539422G>C | CA376071732 | CACNB2,NSUN6 | c.1537G>C (p.Glu513Gln) c.1402G>C (p.Glu468Gln) c.1525G>C (p.Glu509Gln) c.1597G>C (p.Glu533Gln) c.1681G>C (p.Glu561Gln) c.1519G>C (p.Glu507Gln) c.1306G>C (p.Glu436Gln) c.1483G>C (p.Glu495Gln) c.*822G>C (n.*822G>C) c.1423G>C (p.Glu475Gln) c.*955G>C (n.*955G>C) c.1238G>C (n.1238G>C) c.*920G>C (n.*920G>C) c.1501G>C (p.Glu501Gln) c.*781G>C (n.*781G>C) c.1609G>C (p.Glu537Gln) c.931G>C (p.Glu311Gln) c.1516G>C (p.Glu506Gln) c.1385G>C (n.1385G>C) c.193G>C (p.Glu65Gln) c.766G>C (p.Glu256Gln) c.1444G>C (p.Glu482Gln) c.1567G>C (p.Glu523Gln) c.841G>C (p.Glu281Gln) c.1447G>C (p.Glu483Gln) n.2423+2647C>G n.1806G>C | |
10 | g.18539422G= | CA1894173323 | CACNB2,NSUN6 | c.1537G= (p.Glu513=) c.1402G= (p.Glu468=) c.1525G= (p.Glu509=) c.1597G= (p.Glu533=) c.1681G= (p.Glu561=) c.1519G= (p.Glu507=) c.1306G= (p.Glu436=) c.1483G= (p.Glu495=) c.*822G= (n.*822G=) c.1423G= (p.Glu475=) c.*955G= (n.*955G=) c.1238G= (n.1238G=) c.*920G= (n.*920G=) c.1501G= (p.Glu501=) c.*781G= (n.*781G=) c.1609G= (p.Glu537=) c.931G= (p.Glu311=) c.1516G= (p.Glu506=) c.1385G= (n.1385G=) c.193G= (p.Glu65=) c.766G= (p.Glu256=) c.1444G= (p.Glu482=) c.1567G= (p.Glu523=) c.841G= (p.Glu281=) c.1447G= (p.Glu483=) n.2423+2647C= n.1806G= | |
10 | g.18539422G>T | CA376071730 | CACNB2,NSUN6 | c.1537G>T (p.Glu513Ter) c.1402G>T (p.Glu468Ter) c.1525G>T (p.Glu509Ter) c.1597G>T (p.Glu533Ter) c.1681G>T (p.Glu561Ter) c.1519G>T (p.Glu507Ter) c.1306G>T (p.Glu436Ter) c.1483G>T (p.Glu495Ter) c.*822G>T (n.*822G>T) c.1423G>T (p.Glu475Ter) c.*955G>T (n.*955G>T) c.1238G>T (n.1238G>T) c.*920G>T (n.*920G>T) c.1501G>T (p.Glu501Ter) c.*781G>T (n.*781G>T) c.1609G>T (p.Glu537Ter) c.931G>T (p.Glu311Ter) c.1516G>T (p.Glu506Ter) c.1385G>T (n.1385G>T) c.193G>T (p.Glu65Ter) c.766G>T (p.Glu256Ter) c.1444G>T (p.Glu482Ter) c.1567G>T (p.Glu523Ter) c.841G>T (p.Glu281Ter) c.1447G>T (p.Glu483Ter) n.2423+2647C>A n.1806G>T | dbSNP |
10 | g.18539425_18539448dup | CA592060481 | CACNB2,NSUN6 | c.1540_1563dup (p.Glu521_Pro522insSerArgAspSerAlaTyrValGlu) c.1405_1428dup (p.Glu476_Pro477insSerArgAspSerAlaTyrValGlu) c.1528_1551dup (p.Glu517_Pro518insSerArgAspSerAlaTyrValGlu) c.1600_1623dup (p.Glu541_Pro542insSerArgAspSerAlaTyrValGlu) c.1684_1707dup (p.Glu569_Pro570insSerArgAspSerAlaTyrValGlu) c.1522_1545dup (p.Glu515_Pro516insSerArgAspSerAlaTyrValGlu) c.1309_1332dup (p.Glu444_Pro445insSerArgAspSerAlaTyrValGlu) c.1486_1509dup (p.Glu503_Pro504insSerArgAspSerAlaTyrValGlu) c.*825_*848dup (n.*825_*848dup) c.1426_1449dup (p.Glu483_Pro484insSerArgAspSerAlaTyrValGlu) c.*958_*981dup (n.*958_*981dup) c.1241_1264dup (n.1241_1264dup) c.*923_*946dup (n.*923_*946dup) c.1504_1527dup (p.Glu509_Pro510insSerArgAspSerAlaTyrValGlu) c.*784_*807dup (n.*784_*807dup) c.1612_1635dup (p.Glu545_Pro546insSerArgAspSerAlaTyrValGlu) c.934_957dup (p.Glu319_Pro320insSerArgAspSerAlaTyrValGlu) c.1519_1542dup (p.Glu514_Pro515insSerArgAspSerAlaTyrValGlu) c.1388_1411dup (n.1388_1411dup) c.196_219dup (p.Glu73_Pro74insSerArgAspSerAlaTyrValGlu) c.769_792dup (p.Glu264_Pro265insSerArgAspSerAlaTyrValGlu) c.1447_1470dup (p.Glu490_Pro491insSerArgAspSerAlaTyrValGlu) c.1570_1593dup (p.Glu531_Pro532insSerArgAspSerAlaTyrValGlu) c.844_867dup (p.Glu289_Pro290insSerArgAspSerAlaTyrValGlu) c.1450_1473dup (p.Glu491_Pro492insSerArgAspSerAlaTyrValGlu) n.2423+2624_2423+2647dup n.1809_1832dup | dbSNP gnomAD v2 gnomAD v4 |
10 | g.18539423A>C | CA376071734 | CACNB2,NSUN6 | c.1538A>C (p.Glu513Ala) c.1403A>C (p.Glu468Ala) c.1526A>C (p.Glu509Ala) c.1598A>C (p.Glu533Ala) c.1682A>C (p.Glu561Ala) c.1520A>C (p.Glu507Ala) c.1307A>C (p.Glu436Ala) c.1484A>C (p.Glu495Ala) c.*823A>C (n.*823A>C) c.1424A>C (p.Glu475Ala) c.*956A>C (n.*956A>C) c.1239A>C (n.1239A>C) c.*921A>C (n.*921A>C) c.1502A>C (p.Glu501Ala) c.*782A>C (n.*782A>C) c.1610A>C (p.Glu537Ala) c.932A>C (p.Glu311Ala) c.1517A>C (p.Glu506Ala) c.1386A>C (n.1386A>C) c.194A>C (p.Glu65Ala) c.767A>C (p.Glu256Ala) c.1445A>C (p.Glu482Ala) c.1568A>C (p.Glu523Ala) c.842A>C (p.Glu281Ala) c.1448A>C (p.Glu483Ala) n.2423+2646T>G n.1807A>C | |
10 | g.18539423A>G | CA376071735 | CACNB2,NSUN6 | c.1538A>G (p.Glu513Gly) c.1403A>G (p.Glu468Gly) c.1526A>G (p.Glu509Gly) c.1598A>G (p.Glu533Gly) c.1682A>G (p.Glu561Gly) c.1520A>G (p.Glu507Gly) c.1307A>G (p.Glu436Gly) c.1484A>G (p.Glu495Gly) c.*823A>G (n.*823A>G) c.1424A>G (p.Glu475Gly) c.*956A>G (n.*956A>G) c.1239A>G (n.1239A>G) c.*921A>G (n.*921A>G) c.1502A>G (p.Glu501Gly) c.*782A>G (n.*782A>G) c.1610A>G (p.Glu537Gly) c.932A>G (p.Glu311Gly) c.1517A>G (p.Glu506Gly) c.1386A>G (n.1386A>G) c.194A>G (p.Glu65Gly) c.767A>G (p.Glu256Gly) c.1445A>G (p.Glu482Gly) c.1568A>G (p.Glu523Gly) c.842A>G (p.Glu281Gly) c.1448A>G (p.Glu483Gly) n.2423+2646T>C n.1807A>G | ClinVar dbSNP gnomAD v4 |
10 | g.18539423A>T | CA376071737 | CACNB2,NSUN6 | c.1538A>T (p.Glu513Val) c.1403A>T (p.Glu468Val) c.1526A>T (p.Glu509Val) c.1598A>T (p.Glu533Val) c.1682A>T (p.Glu561Val) c.1520A>T (p.Glu507Val) c.1307A>T (p.Glu436Val) c.1484A>T (p.Glu495Val) c.*823A>T (n.*823A>T) c.1424A>T (p.Glu475Val) c.*956A>T (n.*956A>T) c.1239A>T (n.1239A>T) c.*921A>T (n.*921A>T) c.1502A>T (p.Glu501Val) c.*782A>T (n.*782A>T) c.1610A>T (p.Glu537Val) c.932A>T (p.Glu311Val) c.1517A>T (p.Glu506Val) c.1386A>T (n.1386A>T) c.194A>T (p.Glu65Val) c.767A>T (p.Glu256Val) c.1445A>T (p.Glu482Val) c.1568A>T (p.Glu523Val) c.842A>T (p.Glu281Val) c.1448A>T (p.Glu483Val) n.2423+2646T>A n.1807A>T | |
10 | g.18539424G>A | CA5430127 | CACNB2,NSUN6 | c.1539G>A (p.Glu513=) c.1404G>A (p.Glu468=) c.1527G>A (p.Glu509=) c.1599G>A (p.Glu533=) c.1683G>A (p.Glu561=) c.1521G>A (p.Glu507=) c.1308G>A (p.Glu436=) c.1485G>A (p.Glu495=) c.*824G>A (n.*824G>A) c.1425G>A (p.Glu475=) c.*957G>A (n.*957G>A) c.1240G>A (n.1240G>A) c.*922G>A (n.*922G>A) c.1503G>A (p.Glu501=) c.*783G>A (n.*783G>A) c.1611G>A (p.Glu537=) c.933G>A (p.Glu311=) c.1518G>A (p.Glu506=) c.1387G>A (n.1387G>A) c.195G>A (p.Glu65=) c.768G>A (p.Glu256=) c.1446G>A (p.Glu482=) c.1569G>A (p.Glu523=) c.843G>A (p.Glu281=) c.1449G>A (p.Glu483=) n.2423+2645C>T n.1808G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539424G>C | CA376071740 | CACNB2,NSUN6 | c.1539G>C (p.Glu513Asp) c.1404G>C (p.Glu468Asp) c.1527G>C (p.Glu509Asp) c.1599G>C (p.Glu533Asp) c.1683G>C (p.Glu561Asp) c.1521G>C (p.Glu507Asp) c.1308G>C (p.Glu436Asp) c.1485G>C (p.Glu495Asp) c.*824G>C (n.*824G>C) c.1425G>C (p.Glu475Asp) c.*957G>C (n.*957G>C) c.1240G>C (n.1240G>C) c.*922G>C (n.*922G>C) c.1503G>C (p.Glu501Asp) c.*783G>C (n.*783G>C) c.1611G>C (p.Glu537Asp) c.933G>C (p.Glu311Asp) c.1518G>C (p.Glu506Asp) c.1387G>C (n.1387G>C) c.195G>C (p.Glu65Asp) c.768G>C (p.Glu256Asp) c.1446G>C (p.Glu482Asp) c.1569G>C (p.Glu523Asp) c.843G>C (p.Glu281Asp) c.1449G>C (p.Glu483Asp) n.2423+2645C>G n.1808G>C | gnomAD v4 |
10 | g.18539424G= | CA1894173331 | CACNB2,NSUN6 | c.1539G= (p.Glu513=) c.1404G= (p.Glu468=) c.1527G= (p.Glu509=) c.1599G= (p.Glu533=) c.1683G= (p.Glu561=) c.1521G= (p.Glu507=) c.1308G= (p.Glu436=) c.1485G= (p.Glu495=) c.*824G= (n.*824G=) c.1425G= (p.Glu475=) c.*957G= (n.*957G=) c.1240G= (n.1240G=) c.*922G= (n.*922G=) c.1503G= (p.Glu501=) c.*783G= (n.*783G=) c.1611G= (p.Glu537=) c.933G= (p.Glu311=) c.1518G= (p.Glu506=) c.1387G= (n.1387G=) c.195G= (p.Glu65=) c.768G= (p.Glu256=) c.1446G= (p.Glu482=) c.1569G= (p.Glu523=) c.843G= (p.Glu281=) c.1449G= (p.Glu483=) n.2423+2645C= n.1808G= | |
10 | g.18539424G>T | CA376071741 | CACNB2,NSUN6 | c.1539G>T (p.Glu513Asp) c.1404G>T (p.Glu468Asp) c.1527G>T (p.Glu509Asp) c.1599G>T (p.Glu533Asp) c.1683G>T (p.Glu561Asp) c.1521G>T (p.Glu507Asp) c.1308G>T (p.Glu436Asp) c.1485G>T (p.Glu495Asp) c.*824G>T (n.*824G>T) c.1425G>T (p.Glu475Asp) c.*957G>T (n.*957G>T) c.1240G>T (n.1240G>T) c.*922G>T (n.*922G>T) c.1503G>T (p.Glu501Asp) c.*783G>T (n.*783G>T) c.1611G>T (p.Glu537Asp) c.933G>T (p.Glu311Asp) c.1518G>T (p.Glu506Asp) c.1387G>T (n.1387G>T) c.195G>T (p.Glu65Asp) c.768G>T (p.Glu256Asp) c.1446G>T (p.Glu482Asp) c.1569G>T (p.Glu523Asp) c.843G>T (p.Glu281Asp) c.1449G>T (p.Glu483Asp) n.2423+2645C>A n.1808G>T | ClinVar gnomAD v4 |
10 | g.18539424_18539426dup | CA2608435624 | CACNB2,NSUN6 | c.1539_1541dup (p.Glu513_Ser514insArg) c.1404_1406dup (p.Glu468_Ser469insArg) c.1527_1529dup (p.Glu509_Ser510insArg) c.1599_1601dup (p.Glu533_Ser534insArg) c.1683_1685dup (p.Glu561_Ser562insArg) c.1521_1523dup (p.Glu507_Ser508insArg) c.1308_1310dup (p.Glu436_Ser437insArg) c.1485_1487dup (p.Glu495_Ser496insArg) c.*824_*826dup (n.*824_*826dup) c.1425_1427dup (p.Glu475_Ser476insArg) c.*957_*959dup (n.*957_*959dup) c.1240_1242dup (n.1240_1242dup) c.*922_*924dup (n.*922_*924dup) c.1503_1505dup (p.Glu501_Ser502insArg) c.*783_*785dup (n.*783_*785dup) c.1611_1613dup (p.Glu537_Ser538insArg) c.933_935dup (p.Glu311_Ser312insArg) c.1518_1520dup (p.Glu506_Ser507insArg) c.1387_1389dup (n.1387_1389dup) c.195_197dup (p.Glu65_Ser66insArg) c.768_770dup (p.Glu256_Ser257insArg) c.1446_1448dup (p.Glu482_Ser483insArg) c.1569_1571dup (p.Glu523_Ser524insArg) c.843_845dup (p.Glu281_Ser282insArg) c.1449_1451dup (p.Glu483_Ser484insArg) n.2423+2643_2423+2645dup n.1808_1810dup | gnomAD v4 |
10 | g.18539425A>C | CA376071742 | CACNB2,NSUN6 | c.1540A>C (p.Ser514Arg) c.1405A>C (p.Ser469Arg) c.1528A>C (p.Ser510Arg) c.1600A>C (p.Ser534Arg) c.1684A>C (p.Ser562Arg) c.1522A>C (p.Ser508Arg) c.1309A>C (p.Ser437Arg) c.1486A>C (p.Ser496Arg) c.*825A>C (n.*825A>C) c.1426A>C (p.Ser476Arg) c.*958A>C (n.*958A>C) c.1241A>C (n.1241A>C) c.*923A>C (n.*923A>C) c.1504A>C (p.Ser502Arg) c.*784A>C (n.*784A>C) c.1612A>C (p.Ser538Arg) c.934A>C (p.Ser312Arg) c.1519A>C (p.Ser507Arg) c.1388A>C (n.1388A>C) c.196A>C (p.Ser66Arg) c.769A>C (p.Ser257Arg) c.1447A>C (p.Ser483Arg) c.1570A>C (p.Ser524Arg) c.844A>C (p.Ser282Arg) c.1450A>C (p.Ser484Arg) n.2423+2644T>G n.1809A>C | |
10 | g.18539425A>G | CA376071743 | CACNB2,NSUN6 | c.1540A>G (p.Ser514Gly) c.1405A>G (p.Ser469Gly) c.1528A>G (p.Ser510Gly) c.1600A>G (p.Ser534Gly) c.1684A>G (p.Ser562Gly) c.1522A>G (p.Ser508Gly) c.1309A>G (p.Ser437Gly) c.1486A>G (p.Ser496Gly) c.*825A>G (n.*825A>G) c.1426A>G (p.Ser476Gly) c.*958A>G (n.*958A>G) c.1241A>G (n.1241A>G) c.*923A>G (n.*923A>G) c.1504A>G (p.Ser502Gly) c.*784A>G (n.*784A>G) c.1612A>G (p.Ser538Gly) c.934A>G (p.Ser312Gly) c.1519A>G (p.Ser507Gly) c.1388A>G (n.1388A>G) c.196A>G (p.Ser66Gly) c.769A>G (p.Ser257Gly) c.1447A>G (p.Ser483Gly) c.1570A>G (p.Ser524Gly) c.844A>G (p.Ser282Gly) c.1450A>G (p.Ser484Gly) n.2423+2644T>C n.1809A>G | |
10 | g.18539425A>T | CA376071744 | CACNB2,NSUN6 | c.1540A>T (p.Ser514Cys) c.1405A>T (p.Ser469Cys) c.1528A>T (p.Ser510Cys) c.1600A>T (p.Ser534Cys) c.1684A>T (p.Ser562Cys) c.1522A>T (p.Ser508Cys) c.1309A>T (p.Ser437Cys) c.1486A>T (p.Ser496Cys) c.*825A>T (n.*825A>T) c.1426A>T (p.Ser476Cys) c.*958A>T (n.*958A>T) c.1241A>T (n.1241A>T) c.*923A>T (n.*923A>T) c.1504A>T (p.Ser502Cys) c.*784A>T (n.*784A>T) c.1612A>T (p.Ser538Cys) c.934A>T (p.Ser312Cys) c.1519A>T (p.Ser507Cys) c.1388A>T (n.1388A>T) c.196A>T (p.Ser66Cys) c.769A>T (p.Ser257Cys) c.1447A>T (p.Ser483Cys) c.1570A>T (p.Ser524Cys) c.844A>T (p.Ser282Cys) c.1450A>T (p.Ser484Cys) n.2423+2644T>A n.1809A>T | |
10 | g.18539427_18539446dup | CA592060482 | CACNB2,NSUN6 | c.1542_1561dup (p.Glu521ValfsTer7) c.1407_1426dup (p.Glu476ValfsTer7) c.1530_1549dup (p.Glu517ValfsTer7) c.1602_1621dup (p.Glu541ValfsTer7) c.1686_1705dup (p.Glu569ValfsTer7) c.1524_1543dup (p.Glu515ValfsTer7) c.1311_1330dup (p.Glu444ValfsTer7) c.1488_1507dup (p.Glu503ValfsTer7) c.*827_*846dup (n.*827_*846dup) c.1428_1447dup (p.Glu483ValfsTer7) c.*960_*979dup (n.*960_*979dup) c.1243_1262dup (n.1243_1262dup) c.*925_*944dup (n.*925_*944dup) c.1506_1525dup (p.Glu509ValfsTer7) c.*786_*805dup (n.*786_*805dup) c.1614_1633dup (p.Glu545ValfsTer7) c.936_955dup (p.Glu319ValfsTer7) c.1521_1540dup (p.Glu514ValfsTer7) c.1390_1409dup (n.1390_1409dup) c.198_217dup (p.Glu73ValfsTer7) c.771_790dup (p.Glu264ValfsTer7) c.1449_1468dup (p.Glu490ValfsTer7) c.1572_1591dup (p.Glu531ValfsTer7) c.846_865dup (p.Glu289ValfsTer7) c.1452_1471dup (p.Glu491ValfsTer7) n.2423+2625_2423+2644dup n.1811_1830dup | dbSNP gnomAD v2 gnomAD v4 |
10 | g.18539426G>A | CA376071746 | CACNB2,NSUN6 | c.1541G>A (p.Ser514Asn) c.1406G>A (p.Ser469Asn) c.1529G>A (p.Ser510Asn) c.1601G>A (p.Ser534Asn) c.1685G>A (p.Ser562Asn) c.1523G>A (p.Ser508Asn) c.1310G>A (p.Ser437Asn) c.1487G>A (p.Ser496Asn) c.*826G>A (n.*826G>A) c.1427G>A (p.Ser476Asn) c.*959G>A (n.*959G>A) c.1242G>A (n.1242G>A) c.*924G>A (n.*924G>A) c.1505G>A (p.Ser502Asn) c.*785G>A (n.*785G>A) c.1613G>A (p.Ser538Asn) c.935G>A (p.Ser312Asn) c.1520G>A (p.Ser507Asn) c.1389G>A (n.1389G>A) c.197G>A (p.Ser66Asn) c.770G>A (p.Ser257Asn) c.1448G>A (p.Ser483Asn) c.1571G>A (p.Ser524Asn) c.845G>A (p.Ser282Asn) c.1451G>A (p.Ser484Asn) n.2423+2643C>T n.1810G>A | ClinVar |
10 | g.18539426G>C | CA376071747 | CACNB2,NSUN6 | c.1541G>C (p.Ser514Thr) c.1406G>C (p.Ser469Thr) c.1529G>C (p.Ser510Thr) c.1601G>C (p.Ser534Thr) c.1685G>C (p.Ser562Thr) c.1523G>C (p.Ser508Thr) c.1310G>C (p.Ser437Thr) c.1487G>C (p.Ser496Thr) c.*826G>C (n.*826G>C) c.1427G>C (p.Ser476Thr) c.*959G>C (n.*959G>C) c.1242G>C (n.1242G>C) c.*924G>C (n.*924G>C) c.1505G>C (p.Ser502Thr) c.*785G>C (n.*785G>C) c.1613G>C (p.Ser538Thr) c.935G>C (p.Ser312Thr) c.1520G>C (p.Ser507Thr) c.1389G>C (n.1389G>C) c.197G>C (p.Ser66Thr) c.770G>C (p.Ser257Thr) c.1448G>C (p.Ser483Thr) c.1571G>C (p.Ser524Thr) c.845G>C (p.Ser282Thr) c.1451G>C (p.Ser484Thr) n.2423+2643C>G n.1810G>C | |
10 | g.18539426G>T | CA376071749 | CACNB2,NSUN6 | c.1541G>T (p.Ser514Ile) c.1406G>T (p.Ser469Ile) c.1529G>T (p.Ser510Ile) c.1601G>T (p.Ser534Ile) c.1685G>T (p.Ser562Ile) c.1523G>T (p.Ser508Ile) c.1310G>T (p.Ser437Ile) c.1487G>T (p.Ser496Ile) c.*826G>T (n.*826G>T) c.1427G>T (p.Ser476Ile) c.*959G>T (n.*959G>T) c.1242G>T (n.1242G>T) c.*924G>T (n.*924G>T) c.1505G>T (p.Ser502Ile) c.*785G>T (n.*785G>T) c.1613G>T (p.Ser538Ile) c.935G>T (p.Ser312Ile) c.1520G>T (p.Ser507Ile) c.1389G>T (n.1389G>T) c.197G>T (p.Ser66Ile) c.770G>T (p.Ser257Ile) c.1448G>T (p.Ser483Ile) c.1571G>T (p.Ser524Ile) c.845G>T (p.Ser282Ile) c.1451G>T (p.Ser484Ile) n.2423+2643C>A n.1810G>T | gnomAD v4 |
10 | g.18539427T>A | CA376071750 | CACNB2,NSUN6 | c.1542T>A (p.Ser514Arg) c.1407T>A (p.Ser469Arg) c.1530T>A (p.Ser510Arg) c.1602T>A (p.Ser534Arg) c.1686T>A (p.Ser562Arg) c.1524T>A (p.Ser508Arg) c.1311T>A (p.Ser437Arg) c.1488T>A (p.Ser496Arg) c.*827T>A (n.*827T>A) c.1428T>A (p.Ser476Arg) c.*960T>A (n.*960T>A) c.1243T>A (n.1243T>A) c.*925T>A (n.*925T>A) c.1506T>A (p.Ser502Arg) c.*786T>A (n.*786T>A) c.1614T>A (p.Ser538Arg) c.936T>A (p.Ser312Arg) c.1521T>A (p.Ser507Arg) c.1390T>A (n.1390T>A) c.198T>A (p.Ser66Arg) c.771T>A (p.Ser257Arg) c.1449T>A (p.Ser483Arg) c.1572T>A (p.Ser524Arg) c.846T>A (p.Ser282Arg) c.1452T>A (p.Ser484Arg) n.2423+2642A>T n.1811T>A | |
10 | g.18539427T>C | CA468629056 | CACNB2,NSUN6 | c.1542T>C (p.Ser514=) c.1407T>C (p.Ser469=) c.1530T>C (p.Ser510=) c.1602T>C (p.Ser534=) c.1686T>C (p.Ser562=) c.1524T>C (p.Ser508=) c.1311T>C (p.Ser437=) c.1488T>C (p.Ser496=) c.*827T>C (n.*827T>C) c.1428T>C (p.Ser476=) c.*960T>C (n.*960T>C) c.1243T>C (n.1243T>C) c.*925T>C (n.*925T>C) c.1506T>C (p.Ser502=) c.*786T>C (n.*786T>C) c.1614T>C (p.Ser538=) c.936T>C (p.Ser312=) c.1521T>C (p.Ser507=) c.1390T>C (n.1390T>C) c.198T>C (p.Ser66=) c.771T>C (p.Ser257=) c.1449T>C (p.Ser483=) c.1572T>C (p.Ser524=) c.846T>C (p.Ser282=) c.1452T>C (p.Ser484=) n.2423+2642A>G n.1811T>C | |
10 | g.18539427T>G | CA376071752 | CACNB2,NSUN6 | c.1542T>G (p.Ser514Arg) c.1407T>G (p.Ser469Arg) c.1530T>G (p.Ser510Arg) c.1602T>G (p.Ser534Arg) c.1686T>G (p.Ser562Arg) c.1524T>G (p.Ser508Arg) c.1311T>G (p.Ser437Arg) c.1488T>G (p.Ser496Arg) c.*827T>G (n.*827T>G) c.1428T>G (p.Ser476Arg) c.*960T>G (n.*960T>G) c.1243T>G (n.1243T>G) c.*925T>G (n.*925T>G) c.1506T>G (p.Ser502Arg) c.*786T>G (n.*786T>G) c.1614T>G (p.Ser538Arg) c.936T>G (p.Ser312Arg) c.1521T>G (p.Ser507Arg) c.1390T>G (n.1390T>G) c.198T>G (p.Ser66Arg) c.771T>G (p.Ser257Arg) c.1449T>G (p.Ser483Arg) c.1572T>G (p.Ser524Arg) c.846T>G (p.Ser282Arg) c.1452T>G (p.Ser484Arg) n.2423+2642A>C n.1811T>G | |
10 | g.18539428C>A | CA468629066 | CACNB2,NSUN6 | c.1543C>A (p.Arg515=) c.1408C>A (p.Arg470=) c.1531C>A (p.Arg511=) c.1603C>A (p.Arg535=) c.1687C>A (p.Arg563=) c.1525C>A (p.Arg509=) c.1312C>A (p.Arg438=) c.1489C>A (p.Arg497=) c.*828C>A (n.*828C>A) c.1429C>A (p.Arg477=) c.*961C>A (n.*961C>A) c.1244C>A (n.1244C>A) c.*926C>A (n.*926C>A) c.1507C>A (p.Arg503=) c.*787C>A (n.*787C>A) c.1615C>A (p.Arg539=) c.937C>A (p.Arg313=) c.1522C>A (p.Arg508=) c.1391C>A (n.1391C>A) c.199C>A (p.Arg67=) c.772C>A (p.Arg258=) c.1450C>A (p.Arg484=) c.1573C>A (p.Arg525=) c.847C>A (p.Arg283=) c.1453C>A (p.Arg485=) n.2423+2641G>T n.1812C>A | ClinVar dbSNP |
10 | g.18539428C= | CA1894173334 | CACNB2,NSUN6 | c.1543C= (p.Arg515=) c.1408C= (p.Arg470=) c.1531C= (p.Arg511=) c.1603C= (p.Arg535=) c.1687C= (p.Arg563=) c.1525C= (p.Arg509=) c.1312C= (p.Arg438=) c.1489C= (p.Arg497=) c.*828C= (n.*828C=) c.1429C= (p.Arg477=) c.*961C= (n.*961C=) c.1244C= (n.1244C=) c.*926C= (n.*926C=) c.1507C= (p.Arg503=) c.*787C= (n.*787C=) c.1615C= (p.Arg539=) c.937C= (p.Arg313=) c.1522C= (p.Arg508=) c.1391C= (n.1391C=) c.199C= (p.Arg67=) c.772C= (p.Arg258=) c.1450C= (p.Arg484=) c.1573C= (p.Arg525=) c.847C= (p.Arg283=) c.1453C= (p.Arg485=) n.2423+2641G= n.1812C= | |
10 | g.18539428C>G | CA5430128 | CACNB2,NSUN6 | c.1543C>G (p.Arg515Gly) c.1408C>G (p.Arg470Gly) c.1531C>G (p.Arg511Gly) c.1603C>G (p.Arg535Gly) c.1687C>G (p.Arg563Gly) c.1525C>G (p.Arg509Gly) c.1312C>G (p.Arg438Gly) c.1489C>G (p.Arg497Gly) c.*828C>G (n.*828C>G) c.1429C>G (p.Arg477Gly) c.*961C>G (n.*961C>G) c.1244C>G (n.1244C>G) c.*926C>G (n.*926C>G) c.1507C>G (p.Arg503Gly) c.*787C>G (n.*787C>G) c.1615C>G (p.Arg539Gly) c.937C>G (p.Arg313Gly) c.1522C>G (p.Arg508Gly) c.1391C>G (n.1391C>G) c.199C>G (p.Arg67Gly) c.772C>G (p.Arg258Gly) c.1450C>G (p.Arg484Gly) c.1573C>G (p.Arg525Gly) c.847C>G (p.Arg283Gly) c.1453C>G (p.Arg485Gly) n.2423+2641G>C n.1812C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539428C>T | CA376071754 | CACNB2,NSUN6 | c.1543C>T (p.Arg515Ter) c.1408C>T (p.Arg470Ter) c.1531C>T (p.Arg511Ter) c.1603C>T (p.Arg535Ter) c.1687C>T (p.Arg563Ter) c.1525C>T (p.Arg509Ter) c.1312C>T (p.Arg438Ter) c.1489C>T (p.Arg497Ter) c.*828C>T (n.*828C>T) c.1429C>T (p.Arg477Ter) c.*961C>T (n.*961C>T) c.1244C>T (n.1244C>T) c.*926C>T (n.*926C>T) c.1507C>T (p.Arg503Ter) c.*787C>T (n.*787C>T) c.1615C>T (p.Arg539Ter) c.937C>T (p.Arg313Ter) c.1522C>T (p.Arg508Ter) c.1391C>T (n.1391C>T) c.199C>T (p.Arg67Ter) c.772C>T (p.Arg258Ter) c.1450C>T (p.Arg484Ter) c.1573C>T (p.Arg525Ter) c.847C>T (p.Arg283Ter) c.1453C>T (p.Arg485Ter) n.2423+2641G>A n.1812C>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.18539428_18539445delinsCGAGACTCTGCCTACGTA | CA1894173336 | CACNB2,NSUN6 | c.1543_1560delinsCGAGACTCTGCCTACGTA (p.Arg515=) c.1408_1425delinsCGAGACTCTGCCTACGTA (p.Arg470=) c.1531_1548delinsCGAGACTCTGCCTACGTA (p.Arg511=) c.1603_1620delinsCGAGACTCTGCCTACGTA (p.Arg535=) c.1687_1704delinsCGAGACTCTGCCTACGTA (p.Arg563=) c.1525_1542delinsCGAGACTCTGCCTACGTA (p.Arg509=) c.1312_1329delinsCGAGACTCTGCCTACGTA (p.Arg438=) c.1489_1506delinsCGAGACTCTGCCTACGTA (p.Arg497=) c.*828_*845delinsCGAGACTCTGCCTACGTA (n.*828_*845delinsCGAGACTCTGCCTACGTA) c.1429_1446delinsCGAGACTCTGCCTACGTA (p.Arg477=) c.*961_*978delinsCGAGACTCTGCCTACGTA (n.*961_*978delinsCGAGACTCTGCCTACGTA) c.1244_1261delinsCGAGACTCTGCCTACGTA (n.1244_1261delinsCGAGACTCTGCCTACGTA) c.*926_*943delinsCGAGACTCTGCCTACGTA (n.*926_*943delinsCGAGACTCTGCCTACGTA) c.1507_1524delinsCGAGACTCTGCCTACGTA (p.Arg503=) c.*787_*804delinsCGAGACTCTGCCTACGTA (n.*787_*804delinsCGAGACTCTGCCTACGTA) c.1615_1632delinsCGAGACTCTGCCTACGTA (p.Arg539=) c.937_954delinsCGAGACTCTGCCTACGTA (p.Arg313=) c.1522_1539delinsCGAGACTCTGCCTACGTA (p.Arg508=) c.1391_1408delinsCGAGACTCTGCCTACGTA (n.1391_1408delinsCGAGACTCTGCCTACGTA) c.199_216delinsCGAGACTCTGCCTACGTA (p.Arg67=) c.772_789delinsCGAGACTCTGCCTACGTA (p.Arg258=) c.1450_1467delinsCGAGACTCTGCCTACGTA (p.Arg484=) c.1573_1590delinsCGAGACTCTGCCTACGTA (p.Arg525=) c.847_864delinsCGAGACTCTGCCTACGTA (p.Arg283=) c.1453_1470delinsCGAGACTCTGCCTACGTA (p.Arg485=) n.2423+2624_2423+2641delinsTACGTAGGCAGAGTCTCG n.1812_1829delinsCGAGACTCTGCCTACGTA | |
10 | g.18539429G>A | CA5430129 | CACNB2,NSUN6 | c.1544G>A (p.Arg515Gln) c.1409G>A (p.Arg470Gln) c.1532G>A (p.Arg511Gln) c.1604G>A (p.Arg535Gln) c.1688G>A (p.Arg563Gln) c.1526G>A (p.Arg509Gln) c.1313G>A (p.Arg438Gln) c.1490G>A (p.Arg497Gln) c.*829G>A (n.*829G>A) c.1430G>A (p.Arg477Gln) c.*962G>A (n.*962G>A) c.1245G>A (n.1245G>A) c.*927G>A (n.*927G>A) c.1508G>A (p.Arg503Gln) c.*788G>A (n.*788G>A) c.1616G>A (p.Arg539Gln) c.938G>A (p.Arg313Gln) c.1523G>A (p.Arg508Gln) c.1392G>A (n.1392G>A) c.200G>A (p.Arg67Gln) c.773G>A (p.Arg258Gln) c.1451G>A (p.Arg484Gln) c.1574G>A (p.Arg525Gln) c.848G>A (p.Arg283Gln) c.1454G>A (p.Arg485Gln) n.2423+2640C>T n.1813G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539429G>C | CA5430130 | CACNB2,NSUN6 | c.1544G>C (p.Arg515Pro) c.1409G>C (p.Arg470Pro) c.1532G>C (p.Arg511Pro) c.1604G>C (p.Arg535Pro) c.1688G>C (p.Arg563Pro) c.1526G>C (p.Arg509Pro) c.1313G>C (p.Arg438Pro) c.1490G>C (p.Arg497Pro) c.*829G>C (n.*829G>C) c.1430G>C (p.Arg477Pro) c.*962G>C (n.*962G>C) c.1245G>C (n.1245G>C) c.*927G>C (n.*927G>C) c.1508G>C (p.Arg503Pro) c.*788G>C (n.*788G>C) c.1616G>C (p.Arg539Pro) c.938G>C (p.Arg313Pro) c.1523G>C (p.Arg508Pro) c.1392G>C (n.1392G>C) c.200G>C (p.Arg67Pro) c.773G>C (p.Arg258Pro) c.1451G>C (p.Arg484Pro) c.1574G>C (p.Arg525Pro) c.848G>C (p.Arg283Pro) c.1454G>C (p.Arg485Pro) n.2423+2640C>G n.1813G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539429G= | CA1894173342 | CACNB2,NSUN6 | c.1544G= (p.Arg515=) c.1409G= (p.Arg470=) c.1532G= (p.Arg511=) c.1604G= (p.Arg535=) c.1688G= (p.Arg563=) c.1526G= (p.Arg509=) c.1313G= (p.Arg438=) c.1490G= (p.Arg497=) c.*829G= (n.*829G=) c.1430G= (p.Arg477=) c.*962G= (n.*962G=) c.1245G= (n.1245G=) c.*927G= (n.*927G=) c.1508G= (p.Arg503=) c.*788G= (n.*788G=) c.1616G= (p.Arg539=) c.938G= (p.Arg313=) c.1523G= (p.Arg508=) c.1392G= (n.1392G=) c.200G= (p.Arg67=) c.773G= (p.Arg258=) c.1451G= (p.Arg484=) c.1574G= (p.Arg525=) c.848G= (p.Arg283=) c.1454G= (p.Arg485=) n.2423+2640C= n.1813G= | |
10 | g.18539429G>T | CA376071755 | CACNB2,NSUN6 | c.1544G>T (p.Arg515Leu) c.1409G>T (p.Arg470Leu) c.1532G>T (p.Arg511Leu) c.1604G>T (p.Arg535Leu) c.1688G>T (p.Arg563Leu) c.1526G>T (p.Arg509Leu) c.1313G>T (p.Arg438Leu) c.1490G>T (p.Arg497Leu) c.*829G>T (n.*829G>T) c.1430G>T (p.Arg477Leu) c.*962G>T (n.*962G>T) c.1245G>T (n.1245G>T) c.*927G>T (n.*927G>T) c.1508G>T (p.Arg503Leu) c.*788G>T (n.*788G>T) c.1616G>T (p.Arg539Leu) c.938G>T (p.Arg313Leu) c.1523G>T (p.Arg508Leu) c.1392G>T (n.1392G>T) c.200G>T (p.Arg67Leu) c.773G>T (p.Arg258Leu) c.1451G>T (p.Arg484Leu) c.1574G>T (p.Arg525Leu) c.848G>T (p.Arg283Leu) c.1454G>T (p.Arg485Leu) n.2423+2640C>A n.1813G>T | |
10 | g.18539432_18539448del | CA592060483 | CACNB2,NSUN6 | c.1547_1563del (p.Asp516AlafsTer8) c.1412_1428del (p.Asp471AlafsTer8) c.1535_1551del (p.Asp512AlafsTer8) c.1607_1623del (p.Asp536AlafsTer8) c.1691_1707del (p.Asp564AlafsTer8) c.1529_1545del (p.Asp510AlafsTer8) c.1316_1332del (p.Asp439AlafsTer8) c.1493_1509del (p.Asp498AlafsTer8) c.*832_*848del (n.*832_*848del) c.1433_1449del (p.Asp478AlafsTer8) c.*965_*981del (n.*965_*981del) c.1248_1264del (n.1248_1264del) c.*930_*946del (n.*930_*946del) c.1511_1527del (p.Asp504AlafsTer8) c.*791_*807del (n.*791_*807del) c.1619_1635del (p.Asp540AlafsTer8) c.941_957del (p.Asp314AlafsTer8) c.1526_1542del (p.Asp509AlafsTer8) c.1395_1411del (n.1395_1411del) c.203_219del (p.Asp68AlafsTer8) c.776_792del (p.Asp259AlafsTer8) c.1454_1470del (p.Asp485AlafsTer8) c.1577_1593del (p.Asp526AlafsTer8) c.851_867del (p.Asp284AlafsTer8) c.1457_1473del (p.Asp486AlafsTer8) n.2423+2624_2423+2640del n.1816_1832del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539430A= | CA1894173348 | CACNB2,NSUN6 | c.1545A= (p.Arg515=) c.1410A= (p.Arg470=) c.1533A= (p.Arg511=) c.1605A= (p.Arg535=) c.1689A= (p.Arg563=) c.1527A= (p.Arg509=) c.1314A= (p.Arg438=) c.1491A= (p.Arg497=) c.*830A= (n.*830A=) c.1431A= (p.Arg477=) c.*963A= (n.*963A=) c.1246A= (n.1246A=) c.*928A= (n.*928A=) c.1509A= (p.Arg503=) c.*789A= (n.*789A=) c.1617A= (p.Arg539=) c.939A= (p.Arg313=) c.1524A= (p.Arg508=) c.1393A= (n.1393A=) c.201A= (p.Arg67=) c.774A= (p.Arg258=) c.1452A= (p.Arg484=) c.1575A= (p.Arg525=) c.849A= (p.Arg283=) c.1455A= (p.Arg485=) n.2423+2639T= n.1814A= | |
10 | g.18539430A>C | CA468629079 | CACNB2,NSUN6 | c.1545A>C (p.Arg515=) c.1410A>C (p.Arg470=) c.1533A>C (p.Arg511=) c.1605A>C (p.Arg535=) c.1689A>C (p.Arg563=) c.1527A>C (p.Arg509=) c.1314A>C (p.Arg438=) c.1491A>C (p.Arg497=) c.*830A>C (n.*830A>C) c.1431A>C (p.Arg477=) c.*963A>C (n.*963A>C) c.1246A>C (n.1246A>C) c.*928A>C (n.*928A>C) c.1509A>C (p.Arg503=) c.*789A>C (n.*789A>C) c.1617A>C (p.Arg539=) c.939A>C (p.Arg313=) c.1524A>C (p.Arg508=) c.1393A>C (n.1393A>C) c.201A>C (p.Arg67=) c.774A>C (p.Arg258=) c.1452A>C (p.Arg484=) c.1575A>C (p.Arg525=) c.849A>C (p.Arg283=) c.1455A>C (p.Arg485=) n.2423+2639T>G n.1814A>C | gnomAD v4 |
10 | g.18539430A>G | CA468629082 | CACNB2,NSUN6 | c.1545A>G (p.Arg515=) c.1410A>G (p.Arg470=) c.1533A>G (p.Arg511=) c.1605A>G (p.Arg535=) c.1689A>G (p.Arg563=) c.1527A>G (p.Arg509=) c.1314A>G (p.Arg438=) c.1491A>G (p.Arg497=) c.*830A>G (n.*830A>G) c.1431A>G (p.Arg477=) c.*963A>G (n.*963A>G) c.1246A>G (n.1246A>G) c.*928A>G (n.*928A>G) c.1509A>G (p.Arg503=) c.*789A>G (n.*789A>G) c.1617A>G (p.Arg539=) c.939A>G (p.Arg313=) c.1524A>G (p.Arg508=) c.1393A>G (n.1393A>G) c.201A>G (p.Arg67=) c.774A>G (p.Arg258=) c.1452A>G (p.Arg484=) c.1575A>G (p.Arg525=) c.849A>G (p.Arg283=) c.1455A>G (p.Arg485=) n.2423+2639T>C n.1814A>G | dbSNP |
10 | g.18539430A>T | CA468629085 | CACNB2,NSUN6 | c.1545A>T (p.Arg515=) c.1410A>T (p.Arg470=) c.1533A>T (p.Arg511=) c.1605A>T (p.Arg535=) c.1689A>T (p.Arg563=) c.1527A>T (p.Arg509=) c.1314A>T (p.Arg438=) c.1491A>T (p.Arg497=) c.*830A>T (n.*830A>T) c.1431A>T (p.Arg477=) c.*963A>T (n.*963A>T) c.1246A>T (n.1246A>T) c.*928A>T (n.*928A>T) c.1509A>T (p.Arg503=) c.*789A>T (n.*789A>T) c.1617A>T (p.Arg539=) c.939A>T (p.Arg313=) c.1524A>T (p.Arg508=) c.1393A>T (n.1393A>T) c.201A>T (p.Arg67=) c.774A>T (p.Arg258=) c.1452A>T (p.Arg484=) c.1575A>T (p.Arg525=) c.849A>T (p.Arg283=) c.1455A>T (p.Arg485=) n.2423+2639T>A n.1814A>T | |
10 | g.18539431G>A | CA376071756 | CACNB2,NSUN6 | c.1546G>A (p.Asp516Asn) c.1411G>A (p.Asp471Asn) c.1534G>A (p.Asp512Asn) c.1606G>A (p.Asp536Asn) c.1690G>A (p.Asp564Asn) c.1528G>A (p.Asp510Asn) c.1315G>A (p.Asp439Asn) c.1492G>A (p.Asp498Asn) c.*831G>A (n.*831G>A) c.1432G>A (p.Asp478Asn) c.*964G>A (n.*964G>A) c.1247G>A (n.1247G>A) c.*929G>A (n.*929G>A) c.1510G>A (p.Asp504Asn) c.*790G>A (n.*790G>A) c.1618G>A (p.Asp540Asn) c.940G>A (p.Asp314Asn) c.1525G>A (p.Asp509Asn) c.1394G>A (n.1394G>A) c.202G>A (p.Asp68Asn) c.775G>A (p.Asp259Asn) c.1453G>A (p.Asp485Asn) c.1576G>A (p.Asp526Asn) c.850G>A (p.Asp284Asn) c.1456G>A (p.Asp486Asn) n.2423+2638C>T n.1815G>A | |
10 | g.18539431G>C | CA376071757 | CACNB2,NSUN6 | c.1546G>C (p.Asp516His) c.1411G>C (p.Asp471His) c.1534G>C (p.Asp512His) c.1606G>C (p.Asp536His) c.1690G>C (p.Asp564His) c.1528G>C (p.Asp510His) c.1315G>C (p.Asp439His) c.1492G>C (p.Asp498His) c.*831G>C (n.*831G>C) c.1432G>C (p.Asp478His) c.*964G>C (n.*964G>C) c.1247G>C (n.1247G>C) c.*929G>C (n.*929G>C) c.1510G>C (p.Asp504His) c.*790G>C (n.*790G>C) c.1618G>C (p.Asp540His) c.940G>C (p.Asp314His) c.1525G>C (p.Asp509His) c.1394G>C (n.1394G>C) c.202G>C (p.Asp68His) c.775G>C (p.Asp259His) c.1453G>C (p.Asp485His) c.1576G>C (p.Asp526His) c.850G>C (p.Asp284His) c.1456G>C (p.Asp486His) n.2423+2638C>G n.1815G>C | ClinVar |
10 | g.18539431G>T | CA376071758 | CACNB2,NSUN6 | c.1546G>T (p.Asp516Tyr) c.1411G>T (p.Asp471Tyr) c.1534G>T (p.Asp512Tyr) c.1606G>T (p.Asp536Tyr) c.1690G>T (p.Asp564Tyr) c.1528G>T (p.Asp510Tyr) c.1315G>T (p.Asp439Tyr) c.1492G>T (p.Asp498Tyr) c.*831G>T (n.*831G>T) c.1432G>T (p.Asp478Tyr) c.*964G>T (n.*964G>T) c.1247G>T (n.1247G>T) c.*929G>T (n.*929G>T) c.1510G>T (p.Asp504Tyr) c.*790G>T (n.*790G>T) c.1618G>T (p.Asp540Tyr) c.940G>T (p.Asp314Tyr) c.1525G>T (p.Asp509Tyr) c.1394G>T (n.1394G>T) c.202G>T (p.Asp68Tyr) c.775G>T (p.Asp259Tyr) c.1453G>T (p.Asp485Tyr) c.1576G>T (p.Asp526Tyr) c.850G>T (p.Asp284Tyr) c.1456G>T (p.Asp486Tyr) n.2423+2638C>A n.1815G>T | |
10 | g.18539432A>C | CA376071759 | CACNB2,NSUN6 | c.1547A>C (p.Asp516Ala) c.1412A>C (p.Asp471Ala) c.1535A>C (p.Asp512Ala) c.1607A>C (p.Asp536Ala) c.1691A>C (p.Asp564Ala) c.1529A>C (p.Asp510Ala) c.1316A>C (p.Asp439Ala) c.1493A>C (p.Asp498Ala) c.*832A>C (n.*832A>C) c.1433A>C (p.Asp478Ala) c.*965A>C (n.*965A>C) c.1248A>C (n.1248A>C) c.*930A>C (n.*930A>C) c.1511A>C (p.Asp504Ala) c.*791A>C (n.*791A>C) c.1619A>C (p.Asp540Ala) c.941A>C (p.Asp314Ala) c.1526A>C (p.Asp509Ala) c.1395A>C (n.1395A>C) c.203A>C (p.Asp68Ala) c.776A>C (p.Asp259Ala) c.1454A>C (p.Asp485Ala) c.1577A>C (p.Asp526Ala) c.851A>C (p.Asp284Ala) c.1457A>C (p.Asp486Ala) n.2423+2637T>G n.1816A>C | gnomAD v3 gnomAD v4 |
10 | g.18539432A>G | CA376071761 | CACNB2,NSUN6 | c.1547A>G (p.Asp516Gly) c.1412A>G (p.Asp471Gly) c.1535A>G (p.Asp512Gly) c.1607A>G (p.Asp536Gly) c.1691A>G (p.Asp564Gly) c.1529A>G (p.Asp510Gly) c.1316A>G (p.Asp439Gly) c.1493A>G (p.Asp498Gly) c.*832A>G (n.*832A>G) c.1433A>G (p.Asp478Gly) c.*965A>G (n.*965A>G) c.1248A>G (n.1248A>G) c.*930A>G (n.*930A>G) c.1511A>G (p.Asp504Gly) c.*791A>G (n.*791A>G) c.1619A>G (p.Asp540Gly) c.941A>G (p.Asp314Gly) c.1526A>G (p.Asp509Gly) c.1395A>G (n.1395A>G) c.203A>G (p.Asp68Gly) c.776A>G (p.Asp259Gly) c.1454A>G (p.Asp485Gly) c.1577A>G (p.Asp526Gly) c.851A>G (p.Asp284Gly) c.1457A>G (p.Asp486Gly) n.2423+2637T>C n.1816A>G | |
10 | g.18539432A>T | CA376071762 | CACNB2,NSUN6 | c.1547A>T (p.Asp516Val) c.1412A>T (p.Asp471Val) c.1535A>T (p.Asp512Val) c.1607A>T (p.Asp536Val) c.1691A>T (p.Asp564Val) c.1529A>T (p.Asp510Val) c.1316A>T (p.Asp439Val) c.1493A>T (p.Asp498Val) c.*832A>T (n.*832A>T) c.1433A>T (p.Asp478Val) c.*965A>T (n.*965A>T) c.1248A>T (n.1248A>T) c.*930A>T (n.*930A>T) c.1511A>T (p.Asp504Val) c.*791A>T (n.*791A>T) c.1619A>T (p.Asp540Val) c.941A>T (p.Asp314Val) c.1526A>T (p.Asp509Val) c.1395A>T (n.1395A>T) c.203A>T (p.Asp68Val) c.776A>T (p.Asp259Val) c.1454A>T (p.Asp485Val) c.1577A>T (p.Asp526Val) c.851A>T (p.Asp284Val) c.1457A>T (p.Asp486Val) n.2423+2637T>A n.1816A>T | |
10 | g.18539433C>A | CA376071764 | CACNB2,NSUN6 | c.1548C>A (p.Asp516Glu) c.1413C>A (p.Asp471Glu) c.1536C>A (p.Asp512Glu) c.1608C>A (p.Asp536Glu) c.1692C>A (p.Asp564Glu) c.1530C>A (p.Asp510Glu) c.1317C>A (p.Asp439Glu) c.1494C>A (p.Asp498Glu) c.*833C>A (n.*833C>A) c.1434C>A (p.Asp478Glu) c.*966C>A (n.*966C>A) c.1249C>A (n.1249C>A) c.*931C>A (n.*931C>A) c.1512C>A (p.Asp504Glu) c.*792C>A (n.*792C>A) c.1620C>A (p.Asp540Glu) c.942C>A (p.Asp314Glu) c.1527C>A (p.Asp509Glu) c.1396C>A (n.1396C>A) c.204C>A (p.Asp68Glu) c.777C>A (p.Asp259Glu) c.1455C>A (p.Asp485Glu) c.1578C>A (p.Asp526Glu) c.852C>A (p.Asp284Glu) c.1458C>A (p.Asp486Glu) n.2423+2636G>T n.1817C>A | |
10 | g.18539433C= | CA1894173352 | CACNB2,NSUN6 | c.1548C= (p.Asp516=) c.1413C= (p.Asp471=) c.1536C= (p.Asp512=) c.1608C= (p.Asp536=) c.1692C= (p.Asp564=) c.1530C= (p.Asp510=) c.1317C= (p.Asp439=) c.1494C= (p.Asp498=) c.*833C= (n.*833C=) c.1434C= (p.Asp478=) c.*966C= (n.*966C=) c.1249C= (n.1249C=) c.*931C= (n.*931C=) c.1512C= (p.Asp504=) c.*792C= (n.*792C=) c.1620C= (p.Asp540=) c.942C= (p.Asp314=) c.1527C= (p.Asp509=) c.1396C= (n.1396C=) c.204C= (p.Asp68=) c.777C= (p.Asp259=) c.1455C= (p.Asp485=) c.1578C= (p.Asp526=) c.852C= (p.Asp284=) c.1458C= (p.Asp486=) n.2423+2636G= n.1817C= | |
10 | g.18539433C>G | CA376071765 | CACNB2,NSUN6 | c.1548C>G (p.Asp516Glu) c.1413C>G (p.Asp471Glu) c.1536C>G (p.Asp512Glu) c.1608C>G (p.Asp536Glu) c.1692C>G (p.Asp564Glu) c.1530C>G (p.Asp510Glu) c.1317C>G (p.Asp439Glu) c.1494C>G (p.Asp498Glu) c.*833C>G (n.*833C>G) c.1434C>G (p.Asp478Glu) c.*966C>G (n.*966C>G) c.1249C>G (n.1249C>G) c.*931C>G (n.*931C>G) c.1512C>G (p.Asp504Glu) c.*792C>G (n.*792C>G) c.1620C>G (p.Asp540Glu) c.942C>G (p.Asp314Glu) c.1527C>G (p.Asp509Glu) c.1396C>G (n.1396C>G) c.204C>G (p.Asp68Glu) c.777C>G (p.Asp259Glu) c.1455C>G (p.Asp485Glu) c.1578C>G (p.Asp526Glu) c.852C>G (p.Asp284Glu) c.1458C>G (p.Asp486Glu) n.2423+2636G>C n.1817C>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.18539433C>T | CA203167215 | CACNB2,NSUN6 | c.1548C>T (p.Asp516=) c.1413C>T (p.Asp471=) c.1536C>T (p.Asp512=) c.1608C>T (p.Asp536=) c.1692C>T (p.Asp564=) c.1530C>T (p.Asp510=) c.1317C>T (p.Asp439=) c.1494C>T (p.Asp498=) c.*833C>T (n.*833C>T) c.1434C>T (p.Asp478=) c.*966C>T (n.*966C>T) c.1249C>T (n.1249C>T) c.*931C>T (n.*931C>T) c.1512C>T (p.Asp504=) c.*792C>T (n.*792C>T) c.1620C>T (p.Asp540=) c.942C>T (p.Asp314=) c.1527C>T (p.Asp509=) c.1396C>T (n.1396C>T) c.204C>T (p.Asp68=) c.777C>T (p.Asp259=) c.1455C>T (p.Asp485=) c.1578C>T (p.Asp526=) c.852C>T (p.Asp284=) c.1458C>T (p.Asp486=) n.2423+2636G>A n.1817C>T | ClinVar dbSNP gnomAD v4 |
10 | g.18539435_18539436del | CA2608435625 | CACNB2,NSUN6 | c.1550_1551del (p.Ser517CysfsTer12) c.1415_1416del (p.Ser472CysfsTer12) c.1538_1539del (p.Ser513CysfsTer12) c.1610_1611del (p.Ser537CysfsTer12) c.1694_1695del (p.Ser565CysfsTer12) c.1532_1533del (p.Ser511CysfsTer12) c.1319_1320del (p.Ser440CysfsTer12) c.1496_1497del (p.Ser499CysfsTer12) c.*835_*836del (n.*835_*836del) c.1436_1437del (p.Ser479CysfsTer12) c.*968_*969del (n.*968_*969del) c.1251_1252del (n.1251_1252del) c.*933_*934del (n.*933_*934del) c.1514_1515del (p.Ser505CysfsTer12) c.*794_*795del (n.*794_*795del) c.1622_1623del (p.Ser541CysfsTer12) c.944_945del (p.Ser315CysfsTer12) c.1529_1530del (p.Ser510CysfsTer12) c.1398_1399del (n.1398_1399del) c.206_207del (p.Ser69CysfsTer12) c.779_780del (p.Ser260CysfsTer12) c.1457_1458del (p.Ser486CysfsTer12) c.1580_1581del (p.Ser527CysfsTer12) c.854_855del (p.Ser285CysfsTer12) c.1460_1461del (p.Ser487CysfsTer12) n.2423+2635_2423+2636del n.1819_1820del | gnomAD v4 |
10 | g.18539434T>A | CA376071770 | CACNB2,NSUN6 | c.1549T>A (p.Ser517Thr) c.1414T>A (p.Ser472Thr) c.1537T>A (p.Ser513Thr) c.1609T>A (p.Ser537Thr) c.1693T>A (p.Ser565Thr) c.1531T>A (p.Ser511Thr) c.1318T>A (p.Ser440Thr) c.1495T>A (p.Ser499Thr) c.*834T>A (n.*834T>A) c.1435T>A (p.Ser479Thr) c.*967T>A (n.*967T>A) c.1250T>A (n.1250T>A) c.*932T>A (n.*932T>A) c.1513T>A (p.Ser505Thr) c.*793T>A (n.*793T>A) c.1621T>A (p.Ser541Thr) c.943T>A (p.Ser315Thr) c.1528T>A (p.Ser510Thr) c.1397T>A (n.1397T>A) c.205T>A (p.Ser69Thr) c.778T>A (p.Ser260Thr) c.1456T>A (p.Ser486Thr) c.1579T>A (p.Ser527Thr) c.853T>A (p.Ser285Thr) c.1459T>A (p.Ser487Thr) n.2423+2635A>T n.1818T>A | |
10 | g.18539434T>C | CA376071768 | CACNB2,NSUN6 | c.1549T>C (p.Ser517Pro) c.1414T>C (p.Ser472Pro) c.1537T>C (p.Ser513Pro) c.1609T>C (p.Ser537Pro) c.1693T>C (p.Ser565Pro) c.1531T>C (p.Ser511Pro) c.1318T>C (p.Ser440Pro) c.1495T>C (p.Ser499Pro) c.*834T>C (n.*834T>C) c.1435T>C (p.Ser479Pro) c.*967T>C (n.*967T>C) c.1250T>C (n.1250T>C) c.*932T>C (n.*932T>C) c.1513T>C (p.Ser505Pro) c.*793T>C (n.*793T>C) c.1621T>C (p.Ser541Pro) c.943T>C (p.Ser315Pro) c.1528T>C (p.Ser510Pro) c.1397T>C (n.1397T>C) c.205T>C (p.Ser69Pro) c.778T>C (p.Ser260Pro) c.1456T>C (p.Ser486Pro) c.1579T>C (p.Ser527Pro) c.853T>C (p.Ser285Pro) c.1459T>C (p.Ser487Pro) n.2423+2635A>G n.1818T>C | ClinVar |
10 | g.18539434T>G | CA376071766 | CACNB2,NSUN6 | c.1549T>G (p.Ser517Ala) c.1414T>G (p.Ser472Ala) c.1537T>G (p.Ser513Ala) c.1609T>G (p.Ser537Ala) c.1693T>G (p.Ser565Ala) c.1531T>G (p.Ser511Ala) c.1318T>G (p.Ser440Ala) c.1495T>G (p.Ser499Ala) c.*834T>G (n.*834T>G) c.1435T>G (p.Ser479Ala) c.*967T>G (n.*967T>G) c.1250T>G (n.1250T>G) c.*932T>G (n.*932T>G) c.1513T>G (p.Ser505Ala) c.*793T>G (n.*793T>G) c.1621T>G (p.Ser541Ala) c.943T>G (p.Ser315Ala) c.1528T>G (p.Ser510Ala) c.1397T>G (n.1397T>G) c.205T>G (p.Ser69Ala) c.778T>G (p.Ser260Ala) c.1456T>G (p.Ser486Ala) c.1579T>G (p.Ser527Ala) c.853T>G (p.Ser285Ala) c.1459T>G (p.Ser487Ala) n.2423+2635A>C n.1818T>G | |
10 | g.18539435C>A | CA376071772 | CACNB2,NSUN6 | c.1550C>A (p.Ser517Tyr) c.1415C>A (p.Ser472Tyr) c.1538C>A (p.Ser513Tyr) c.1610C>A (p.Ser537Tyr) c.1694C>A (p.Ser565Tyr) c.1532C>A (p.Ser511Tyr) c.1319C>A (p.Ser440Tyr) c.1496C>A (p.Ser499Tyr) c.*835C>A (n.*835C>A) c.1436C>A (p.Ser479Tyr) c.*968C>A (n.*968C>A) c.1251C>A (n.1251C>A) c.*933C>A (n.*933C>A) c.1514C>A (p.Ser505Tyr) c.*794C>A (n.*794C>A) c.1622C>A (p.Ser541Tyr) c.944C>A (p.Ser315Tyr) c.1529C>A (p.Ser510Tyr) c.1398C>A (n.1398C>A) c.206C>A (p.Ser69Tyr) c.779C>A (p.Ser260Tyr) c.1457C>A (p.Ser486Tyr) c.1580C>A (p.Ser527Tyr) c.854C>A (p.Ser285Tyr) c.1460C>A (p.Ser487Tyr) n.2423+2634G>T n.1819C>A | |
10 | g.18539435C= | CA1894173355 | CACNB2,NSUN6 | c.1550C= (p.Ser517=) c.1415C= (p.Ser472=) c.1538C= (p.Ser513=) c.1610C= (p.Ser537=) c.1694C= (p.Ser565=) c.1532C= (p.Ser511=) c.1319C= (p.Ser440=) c.1496C= (p.Ser499=) c.*835C= (n.*835C=) c.1436C= (p.Ser479=) c.*968C= (n.*968C=) c.1251C= (n.1251C=) c.*933C= (n.*933C=) c.1514C= (p.Ser505=) c.*794C= (n.*794C=) c.1622C= (p.Ser541=) c.944C= (p.Ser315=) c.1529C= (p.Ser510=) c.1398C= (n.1398C=) c.206C= (p.Ser69=) c.779C= (p.Ser260=) c.1457C= (p.Ser486=) c.1580C= (p.Ser527=) c.854C= (p.Ser285=) c.1460C= (p.Ser487=) n.2423+2634G= n.1819C= | |
10 | g.18539435C>G | CA376071775 | CACNB2,NSUN6 | c.1550C>G (p.Ser517Cys) c.1415C>G (p.Ser472Cys) c.1538C>G (p.Ser513Cys) c.1610C>G (p.Ser537Cys) c.1694C>G (p.Ser565Cys) c.1532C>G (p.Ser511Cys) c.1319C>G (p.Ser440Cys) c.1496C>G (p.Ser499Cys) c.*835C>G (n.*835C>G) c.1436C>G (p.Ser479Cys) c.*968C>G (n.*968C>G) c.1251C>G (n.1251C>G) c.*933C>G (n.*933C>G) c.1514C>G (p.Ser505Cys) c.*794C>G (n.*794C>G) c.1622C>G (p.Ser541Cys) c.944C>G (p.Ser315Cys) c.1529C>G (p.Ser510Cys) c.1398C>G (n.1398C>G) c.206C>G (p.Ser69Cys) c.779C>G (p.Ser260Cys) c.1457C>G (p.Ser486Cys) c.1580C>G (p.Ser527Cys) c.854C>G (p.Ser285Cys) c.1460C>G (p.Ser487Cys) n.2423+2634G>C n.1819C>G | gnomAD v4 |
10 | g.18539435C>T | CA376071773 | CACNB2,NSUN6 | c.1550C>T (p.Ser517Phe) c.1415C>T (p.Ser472Phe) c.1538C>T (p.Ser513Phe) c.1610C>T (p.Ser537Phe) c.1694C>T (p.Ser565Phe) c.1532C>T (p.Ser511Phe) c.1319C>T (p.Ser440Phe) c.1496C>T (p.Ser499Phe) c.*835C>T (n.*835C>T) c.1436C>T (p.Ser479Phe) c.*968C>T (n.*968C>T) c.1251C>T (n.1251C>T) c.*933C>T (n.*933C>T) c.1514C>T (p.Ser505Phe) c.*794C>T (n.*794C>T) c.1622C>T (p.Ser541Phe) c.944C>T (p.Ser315Phe) c.1529C>T (p.Ser510Phe) c.1398C>T (n.1398C>T) c.206C>T (p.Ser69Phe) c.779C>T (p.Ser260Phe) c.1457C>T (p.Ser486Phe) c.1580C>T (p.Ser527Phe) c.854C>T (p.Ser285Phe) c.1460C>T (p.Ser487Phe) n.2423+2634G>A n.1819C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.18539436T>A | CA468629127 | CACNB2,NSUN6 | c.1551T>A (p.Ser517=) c.1416T>A (p.Ser472=) c.1539T>A (p.Ser513=) c.1611T>A (p.Ser537=) c.1695T>A (p.Ser565=) c.1533T>A (p.Ser511=) c.1320T>A (p.Ser440=) c.1497T>A (p.Ser499=) c.*836T>A (n.*836T>A) c.1437T>A (p.Ser479=) c.*969T>A (n.*969T>A) c.1252T>A (n.1252T>A) c.*934T>A (n.*934T>A) c.1515T>A (p.Ser505=) c.*795T>A (n.*795T>A) c.1623T>A (p.Ser541=) c.945T>A (p.Ser315=) c.1530T>A (p.Ser510=) c.1399T>A (n.1399T>A) c.207T>A (p.Ser69=) c.780T>A (p.Ser260=) c.1458T>A (p.Ser486=) c.1581T>A (p.Ser527=) c.855T>A (p.Ser285=) c.1461T>A (p.Ser487=) n.2423+2633A>T n.1820T>A | |
10 | g.18539436T>C | CA5430131 | CACNB2,NSUN6 | c.1551T>C (p.Ser517=) c.1416T>C (p.Ser472=) c.1539T>C (p.Ser513=) c.1611T>C (p.Ser537=) c.1695T>C (p.Ser565=) c.1533T>C (p.Ser511=) c.1320T>C (p.Ser440=) c.1497T>C (p.Ser499=) c.*836T>C (n.*836T>C) c.1437T>C (p.Ser479=) c.*969T>C (n.*969T>C) c.1252T>C (n.1252T>C) c.*934T>C (n.*934T>C) c.1515T>C (p.Ser505=) c.*795T>C (n.*795T>C) c.1623T>C (p.Ser541=) c.945T>C (p.Ser315=) c.1530T>C (p.Ser510=) c.1399T>C (n.1399T>C) c.207T>C (p.Ser69=) c.780T>C (p.Ser260=) c.1458T>C (p.Ser486=) c.1581T>C (p.Ser527=) c.855T>C (p.Ser285=) c.1461T>C (p.Ser487=) n.2423+2633A>G n.1820T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539436T>G | CA468629134 | CACNB2,NSUN6 | c.1551T>G (p.Ser517=) c.1416T>G (p.Ser472=) c.1539T>G (p.Ser513=) c.1611T>G (p.Ser537=) c.1695T>G (p.Ser565=) c.1533T>G (p.Ser511=) c.1320T>G (p.Ser440=) c.1497T>G (p.Ser499=) c.*836T>G (n.*836T>G) c.1437T>G (p.Ser479=) c.*969T>G (n.*969T>G) c.1252T>G (n.1252T>G) c.*934T>G (n.*934T>G) c.1515T>G (p.Ser505=) c.*795T>G (n.*795T>G) c.1623T>G (p.Ser541=) c.945T>G (p.Ser315=) c.1530T>G (p.Ser510=) c.1399T>G (n.1399T>G) c.207T>G (p.Ser69=) c.780T>G (p.Ser260=) c.1458T>G (p.Ser486=) c.1581T>G (p.Ser527=) c.855T>G (p.Ser285=) c.1461T>G (p.Ser487=) n.2423+2633A>C n.1820T>G | |
10 | g.18539436T= | CA1894173359 | CACNB2,NSUN6 | c.1551T= (p.Ser517=) c.1416T= (p.Ser472=) c.1539T= (p.Ser513=) c.1611T= (p.Ser537=) c.1695T= (p.Ser565=) c.1533T= (p.Ser511=) c.1320T= (p.Ser440=) c.1497T= (p.Ser499=) c.*836T= (n.*836T=) c.1437T= (p.Ser479=) c.*969T= (n.*969T=) c.1252T= (n.1252T=) c.*934T= (n.*934T=) c.1515T= (p.Ser505=) c.*795T= (n.*795T=) c.1623T= (p.Ser541=) c.945T= (p.Ser315=) c.1530T= (p.Ser510=) c.1399T= (n.1399T=) c.207T= (p.Ser69=) c.780T= (p.Ser260=) c.1458T= (p.Ser486=) c.1581T= (p.Ser527=) c.855T= (p.Ser285=) c.1461T= (p.Ser487=) n.2423+2633A= n.1820T= | |
10 | g.18539437G>A | CA235681 | CACNB2,NSUN6 | c.1552G>A (p.Ala518Thr) c.1417G>A (p.Ala473Thr) c.1540G>A (p.Ala514Thr) c.1612G>A (p.Ala538Thr) c.1696G>A (p.Ala566Thr) c.1534G>A (p.Ala512Thr) c.1321G>A (p.Ala441Thr) c.1498G>A (p.Ala500Thr) c.*837G>A (n.*837G>A) c.1438G>A (p.Ala480Thr) c.*970G>A (n.*970G>A) c.1253G>A (n.1253G>A) c.*935G>A (n.*935G>A) c.1516G>A (p.Ala506Thr) c.*796G>A (n.*796G>A) c.1624G>A (p.Ala542Thr) c.946G>A (p.Ala316Thr) c.1531G>A (p.Ala511Thr) c.1400G>A (n.1400G>A) c.208G>A (p.Ala70Thr) c.781G>A (p.Ala261Thr) c.1459G>A (p.Ala487Thr) c.1582G>A (p.Ala528Thr) c.856G>A (p.Ala286Thr) c.1462G>A (p.Ala488Thr) n.2423+2632C>T n.1821G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539437G>C | CA376071779 | CACNB2,NSUN6 | c.1552G>C (p.Ala518Pro) c.1417G>C (p.Ala473Pro) c.1540G>C (p.Ala514Pro) c.1612G>C (p.Ala538Pro) c.1696G>C (p.Ala566Pro) c.1534G>C (p.Ala512Pro) c.1321G>C (p.Ala441Pro) c.1498G>C (p.Ala500Pro) c.*837G>C (n.*837G>C) c.1438G>C (p.Ala480Pro) c.*970G>C (n.*970G>C) c.1253G>C (n.1253G>C) c.*935G>C (n.*935G>C) c.1516G>C (p.Ala506Pro) c.*796G>C (n.*796G>C) c.1624G>C (p.Ala542Pro) c.946G>C (p.Ala316Pro) c.1531G>C (p.Ala511Pro) c.1400G>C (n.1400G>C) c.208G>C (p.Ala70Pro) c.781G>C (p.Ala261Pro) c.1459G>C (p.Ala487Pro) c.1582G>C (p.Ala528Pro) c.856G>C (p.Ala286Pro) c.1462G>C (p.Ala488Pro) n.2423+2632C>G n.1821G>C | dbSNP |
10 | g.18539437G= | CA1894173362 | CACNB2,NSUN6 | c.1552G= (p.Ala518=) c.1417G= (p.Ala473=) c.1540G= (p.Ala514=) c.1612G= (p.Ala538=) c.1696G= (p.Ala566=) c.1534G= (p.Ala512=) c.1321G= (p.Ala441=) c.1498G= (p.Ala500=) c.*837G= (n.*837G=) c.1438G= (p.Ala480=) c.*970G= (n.*970G=) c.1253G= (n.1253G=) c.*935G= (n.*935G=) c.1516G= (p.Ala506=) c.*796G= (n.*796G=) c.1624G= (p.Ala542=) c.946G= (p.Ala316=) c.1531G= (p.Ala511=) c.1400G= (n.1400G=) c.208G= (p.Ala70=) c.781G= (p.Ala261=) c.1459G= (p.Ala487=) c.1582G= (p.Ala528=) c.856G= (p.Ala286=) c.1462G= (p.Ala488=) n.2423+2632C= n.1821G= | |
10 | g.18539437G>T | CA376071782 | CACNB2,NSUN6 | c.1552G>T (p.Ala518Ser) c.1417G>T (p.Ala473Ser) c.1540G>T (p.Ala514Ser) c.1612G>T (p.Ala538Ser) c.1696G>T (p.Ala566Ser) c.1534G>T (p.Ala512Ser) c.1321G>T (p.Ala441Ser) c.1498G>T (p.Ala500Ser) c.*837G>T (n.*837G>T) c.1438G>T (p.Ala480Ser) c.*970G>T (n.*970G>T) c.1253G>T (n.1253G>T) c.*935G>T (n.*935G>T) c.1516G>T (p.Ala506Ser) c.*796G>T (n.*796G>T) c.1624G>T (p.Ala542Ser) c.946G>T (p.Ala316Ser) c.1531G>T (p.Ala511Ser) c.1400G>T (n.1400G>T) c.208G>T (p.Ala70Ser) c.781G>T (p.Ala261Ser) c.1459G>T (p.Ala487Ser) c.1582G>T (p.Ala528Ser) c.856G>T (p.Ala286Ser) c.1462G>T (p.Ala488Ser) n.2423+2632C>A n.1821G>T | |
10 | g.18539438C>A | CA376071785 | CACNB2,NSUN6 | c.1553C>A (p.Ala518Asp) c.1418C>A (p.Ala473Asp) c.1541C>A (p.Ala514Asp) c.1613C>A (p.Ala538Asp) c.1697C>A (p.Ala566Asp) c.1535C>A (p.Ala512Asp) c.1322C>A (p.Ala441Asp) c.1499C>A (p.Ala500Asp) c.*838C>A (n.*838C>A) c.1439C>A (p.Ala480Asp) c.*971C>A (n.*971C>A) c.1254C>A (n.1254C>A) c.*936C>A (n.*936C>A) c.1517C>A (p.Ala506Asp) c.*797C>A (n.*797C>A) c.1625C>A (p.Ala542Asp) c.947C>A (p.Ala316Asp) c.1532C>A (p.Ala511Asp) c.1401C>A (n.1401C>A) c.209C>A (p.Ala70Asp) c.782C>A (p.Ala261Asp) c.1460C>A (p.Ala487Asp) c.1583C>A (p.Ala528Asp) c.857C>A (p.Ala286Asp) c.1463C>A (p.Ala488Asp) n.2423+2631G>T n.1822C>A | |
10 | g.18539438C= | CA1894173369 | CACNB2,NSUN6 | c.1553C= (p.Ala518=) c.1418C= (p.Ala473=) c.1541C= (p.Ala514=) c.1613C= (p.Ala538=) c.1697C= (p.Ala566=) c.1535C= (p.Ala512=) c.1322C= (p.Ala441=) c.1499C= (p.Ala500=) c.*838C= (n.*838C=) c.1439C= (p.Ala480=) c.*971C= (n.*971C=) c.1254C= (n.1254C=) c.*936C= (n.*936C=) c.1517C= (p.Ala506=) c.*797C= (n.*797C=) c.1625C= (p.Ala542=) c.947C= (p.Ala316=) c.1532C= (p.Ala511=) c.1401C= (n.1401C=) c.209C= (p.Ala70=) c.782C= (p.Ala261=) c.1460C= (p.Ala487=) c.1583C= (p.Ala528=) c.857C= (p.Ala286=) c.1463C= (p.Ala488=) n.2423+2631G= n.1822C= | |
10 | g.18539438C>G | CA376071787 | CACNB2,NSUN6 | c.1553C>G (p.Ala518Gly) c.1418C>G (p.Ala473Gly) c.1541C>G (p.Ala514Gly) c.1613C>G (p.Ala538Gly) c.1697C>G (p.Ala566Gly) c.1535C>G (p.Ala512Gly) c.1322C>G (p.Ala441Gly) c.1499C>G (p.Ala500Gly) c.*838C>G (n.*838C>G) c.1439C>G (p.Ala480Gly) c.*971C>G (n.*971C>G) c.1254C>G (n.1254C>G) c.*936C>G (n.*936C>G) c.1517C>G (p.Ala506Gly) c.*797C>G (n.*797C>G) c.1625C>G (p.Ala542Gly) c.947C>G (p.Ala316Gly) c.1532C>G (p.Ala511Gly) c.1401C>G (n.1401C>G) c.209C>G (p.Ala70Gly) c.782C>G (p.Ala261Gly) c.1460C>G (p.Ala487Gly) c.1583C>G (p.Ala528Gly) c.857C>G (p.Ala286Gly) c.1463C>G (p.Ala488Gly) n.2423+2631G>C n.1822C>G | |
10 | g.18539438C>T | CA203167223 | CACNB2,NSUN6 | c.1553C>T (p.Ala518Val) c.1418C>T (p.Ala473Val) c.1541C>T (p.Ala514Val) c.1613C>T (p.Ala538Val) c.1697C>T (p.Ala566Val) c.1535C>T (p.Ala512Val) c.1322C>T (p.Ala441Val) c.1499C>T (p.Ala500Val) c.*838C>T (n.*838C>T) c.1439C>T (p.Ala480Val) c.*971C>T (n.*971C>T) c.1254C>T (n.1254C>T) c.*936C>T (n.*936C>T) c.1517C>T (p.Ala506Val) c.*797C>T (n.*797C>T) c.1625C>T (p.Ala542Val) c.947C>T (p.Ala316Val) c.1532C>T (p.Ala511Val) c.1401C>T (n.1401C>T) c.209C>T (p.Ala70Val) c.782C>T (p.Ala261Val) c.1460C>T (p.Ala487Val) c.1583C>T (p.Ala528Val) c.857C>T (p.Ala286Val) c.1463C>T (p.Ala488Val) n.2423+2631G>A n.1822C>T | dbSNP gnomAD v4 |
10 | g.18539439C>A | CA468629157 | CACNB2,NSUN6 | c.1554C>A (p.Ala518=) c.1419C>A (p.Ala473=) c.1542C>A (p.Ala514=) c.1614C>A (p.Ala538=) c.1698C>A (p.Ala566=) c.1536C>A (p.Ala512=) c.1323C>A (p.Ala441=) c.1500C>A (p.Ala500=) c.*839C>A (n.*839C>A) c.1440C>A (p.Ala480=) c.*972C>A (n.*972C>A) c.1255C>A (n.1255C>A) c.*937C>A (n.*937C>A) c.1518C>A (p.Ala506=) c.*798C>A (n.*798C>A) c.1626C>A (p.Ala542=) c.948C>A (p.Ala316=) c.1533C>A (p.Ala511=) c.1402C>A (n.1402C>A) c.210C>A (p.Ala70=) c.783C>A (p.Ala261=) c.1461C>A (p.Ala487=) c.1584C>A (p.Ala528=) c.858C>A (p.Ala286=) c.1464C>A (p.Ala488=) n.2423+2630G>T n.1823C>A | |
10 | g.18539439C= | CA1894173376 | CACNB2,NSUN6 | c.1554C= (p.Ala518=) c.1419C= (p.Ala473=) c.1542C= (p.Ala514=) c.1614C= (p.Ala538=) c.1698C= (p.Ala566=) c.1536C= (p.Ala512=) c.1323C= (p.Ala441=) c.1500C= (p.Ala500=) c.*839C= (n.*839C=) c.1440C= (p.Ala480=) c.*972C= (n.*972C=) c.1255C= (n.1255C=) c.*937C= (n.*937C=) c.1518C= (p.Ala506=) c.*798C= (n.*798C=) c.1626C= (p.Ala542=) c.948C= (p.Ala316=) c.1533C= (p.Ala511=) c.1402C= (n.1402C=) c.210C= (p.Ala70=) c.783C= (p.Ala261=) c.1461C= (p.Ala487=) c.1584C= (p.Ala528=) c.858C= (p.Ala286=) c.1464C= (p.Ala488=) n.2423+2630G= n.1823C= | |
10 | g.18539439C>G | CA10628354 | CACNB2,NSUN6 | c.1554C>G (p.Ala518=) c.1419C>G (p.Ala473=) c.1542C>G (p.Ala514=) c.1614C>G (p.Ala538=) c.1698C>G (p.Ala566=) c.1536C>G (p.Ala512=) c.1323C>G (p.Ala441=) c.1500C>G (p.Ala500=) c.*839C>G (n.*839C>G) c.1440C>G (p.Ala480=) c.*972C>G (n.*972C>G) c.1255C>G (n.1255C>G) c.*937C>G (n.*937C>G) c.1518C>G (p.Ala506=) c.*798C>G (n.*798C>G) c.1626C>G (p.Ala542=) c.948C>G (p.Ala316=) c.1533C>G (p.Ala511=) c.1402C>G (n.1402C>G) c.210C>G (p.Ala70=) c.783C>G (p.Ala261=) c.1461C>G (p.Ala487=) c.1584C>G (p.Ala528=) c.858C>G (p.Ala286=) c.1464C>G (p.Ala488=) n.2423+2630G>C n.1823C>G | dbSNP |
10 | g.18539439C>T | CA468629161 | CACNB2,NSUN6 | c.1554C>T (p.Ala518=) c.1419C>T (p.Ala473=) c.1542C>T (p.Ala514=) c.1614C>T (p.Ala538=) c.1698C>T (p.Ala566=) c.1536C>T (p.Ala512=) c.1323C>T (p.Ala441=) c.1500C>T (p.Ala500=) c.*839C>T (n.*839C>T) c.1440C>T (p.Ala480=) c.*972C>T (n.*972C>T) c.1255C>T (n.1255C>T) c.*937C>T (n.*937C>T) c.1518C>T (p.Ala506=) c.*798C>T (n.*798C>T) c.1626C>T (p.Ala542=) c.948C>T (p.Ala316=) c.1533C>T (p.Ala511=) c.1402C>T (n.1402C>T) c.210C>T (p.Ala70=) c.783C>T (p.Ala261=) c.1461C>T (p.Ala487=) c.1584C>T (p.Ala528=) c.858C>T (p.Ala286=) c.1464C>T (p.Ala488=) n.2423+2630G>A n.1823C>T | |
10 | g.18539440T>A | CA376071791 | CACNB2,NSUN6 | c.1555T>A (p.Tyr519Asn) c.1420T>A (p.Tyr474Asn) c.1543T>A (p.Tyr515Asn) c.1615T>A (p.Tyr539Asn) c.1699T>A (p.Tyr567Asn) c.1537T>A (p.Tyr513Asn) c.1324T>A (p.Tyr442Asn) c.1501T>A (p.Tyr501Asn) c.*840T>A (n.*840T>A) c.1441T>A (p.Tyr481Asn) c.*973T>A (n.*973T>A) c.1256T>A (n.1256T>A) c.*938T>A (n.*938T>A) c.1519T>A (p.Tyr507Asn) c.*799T>A (n.*799T>A) c.1627T>A (p.Tyr543Asn) c.949T>A (p.Tyr317Asn) c.1534T>A (p.Tyr512Asn) c.1403T>A (n.1403T>A) c.211T>A (p.Tyr71Asn) c.784T>A (p.Tyr262Asn) c.1462T>A (p.Tyr488Asn) c.1585T>A (p.Tyr529Asn) c.859T>A (p.Tyr287Asn) c.1465T>A (p.Tyr489Asn) n.2423+2629A>T n.1824T>A | |
10 | g.18539440T>C | CA376071794 | CACNB2,NSUN6 | c.1555T>C (p.Tyr519His) c.1420T>C (p.Tyr474His) c.1543T>C (p.Tyr515His) c.1615T>C (p.Tyr539His) c.1699T>C (p.Tyr567His) c.1537T>C (p.Tyr513His) c.1324T>C (p.Tyr442His) c.1501T>C (p.Tyr501His) c.*840T>C (n.*840T>C) c.1441T>C (p.Tyr481His) c.*973T>C (n.*973T>C) c.1256T>C (n.1256T>C) c.*938T>C (n.*938T>C) c.1519T>C (p.Tyr507His) c.*799T>C (n.*799T>C) c.1627T>C (p.Tyr543His) c.949T>C (p.Tyr317His) c.1534T>C (p.Tyr512His) c.1403T>C (n.1403T>C) c.211T>C (p.Tyr71His) c.784T>C (p.Tyr262His) c.1462T>C (p.Tyr488His) c.1585T>C (p.Tyr529His) c.859T>C (p.Tyr287His) c.1465T>C (p.Tyr489His) n.2423+2629A>G n.1824T>C | COSMIC COSMIC |
10 | g.18539440T>G | CA376071797 | CACNB2,NSUN6 | c.1555T>G (p.Tyr519Asp) c.1420T>G (p.Tyr474Asp) c.1543T>G (p.Tyr515Asp) c.1615T>G (p.Tyr539Asp) c.1699T>G (p.Tyr567Asp) c.1537T>G (p.Tyr513Asp) c.1324T>G (p.Tyr442Asp) c.1501T>G (p.Tyr501Asp) c.*840T>G (n.*840T>G) c.1441T>G (p.Tyr481Asp) c.*973T>G (n.*973T>G) c.1256T>G (n.1256T>G) c.*938T>G (n.*938T>G) c.1519T>G (p.Tyr507Asp) c.*799T>G (n.*799T>G) c.1627T>G (p.Tyr543Asp) c.949T>G (p.Tyr317Asp) c.1534T>G (p.Tyr512Asp) c.1403T>G (n.1403T>G) c.211T>G (p.Tyr71Asp) c.784T>G (p.Tyr262Asp) c.1462T>G (p.Tyr488Asp) c.1585T>G (p.Tyr529Asp) c.859T>G (p.Tyr287Asp) c.1465T>G (p.Tyr489Asp) n.2423+2629A>C n.1824T>G | |
10 | g.18539441A= | CA1894173383 | CACNB2,NSUN6 | c.1556A= (p.Tyr519=) c.1421A= (p.Tyr474=) c.1544A= (p.Tyr515=) c.1616A= (p.Tyr539=) c.1700A= (p.Tyr567=) c.1538A= (p.Tyr513=) c.1325A= (p.Tyr442=) c.1502A= (p.Tyr501=) c.*841A= (n.*841A=) c.1442A= (p.Tyr481=) c.*974A= (n.*974A=) c.1257A= (n.1257A=) c.*939A= (n.*939A=) c.1520A= (p.Tyr507=) c.*800A= (n.*800A=) c.1628A= (p.Tyr543=) c.950A= (p.Tyr317=) c.1535A= (p.Tyr512=) c.1404A= (n.1404A=) c.212A= (p.Tyr71=) c.785A= (p.Tyr262=) c.1463A= (p.Tyr488=) c.1586A= (p.Tyr529=) c.860A= (p.Tyr287=) c.1466A= (p.Tyr489=) n.2423+2628T= n.1825A= | |
10 | g.18539441A>C | CA376071799 | CACNB2,NSUN6 | c.1556A>C (p.Tyr519Ser) c.1421A>C (p.Tyr474Ser) c.1544A>C (p.Tyr515Ser) c.1616A>C (p.Tyr539Ser) c.1700A>C (p.Tyr567Ser) c.1538A>C (p.Tyr513Ser) c.1325A>C (p.Tyr442Ser) c.1502A>C (p.Tyr501Ser) c.*841A>C (n.*841A>C) c.1442A>C (p.Tyr481Ser) c.*974A>C (n.*974A>C) c.1257A>C (n.1257A>C) c.*939A>C (n.*939A>C) c.1520A>C (p.Tyr507Ser) c.*800A>C (n.*800A>C) c.1628A>C (p.Tyr543Ser) c.950A>C (p.Tyr317Ser) c.1535A>C (p.Tyr512Ser) c.1404A>C (n.1404A>C) c.212A>C (p.Tyr71Ser) c.785A>C (p.Tyr262Ser) c.1463A>C (p.Tyr488Ser) c.1586A>C (p.Tyr529Ser) c.860A>C (p.Tyr287Ser) c.1466A>C (p.Tyr489Ser) n.2423+2628T>G n.1825A>C | |
10 | g.18539441A>G | CA5430132 | CACNB2,NSUN6 | c.1556A>G (p.Tyr519Cys) c.1421A>G (p.Tyr474Cys) c.1544A>G (p.Tyr515Cys) c.1616A>G (p.Tyr539Cys) c.1700A>G (p.Tyr567Cys) c.1538A>G (p.Tyr513Cys) c.1325A>G (p.Tyr442Cys) c.1502A>G (p.Tyr501Cys) c.*841A>G (n.*841A>G) c.1442A>G (p.Tyr481Cys) c.*974A>G (n.*974A>G) c.1257A>G (n.1257A>G) c.*939A>G (n.*939A>G) c.1520A>G (p.Tyr507Cys) c.*800A>G (n.*800A>G) c.1628A>G (p.Tyr543Cys) c.950A>G (p.Tyr317Cys) c.1535A>G (p.Tyr512Cys) c.1404A>G (n.1404A>G) c.212A>G (p.Tyr71Cys) c.785A>G (p.Tyr262Cys) c.1463A>G (p.Tyr488Cys) c.1586A>G (p.Tyr529Cys) c.860A>G (p.Tyr287Cys) c.1466A>G (p.Tyr489Cys) n.2423+2628T>C n.1825A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.18539441A>T | CA376071802 | CACNB2,NSUN6 | c.1556A>T (p.Tyr519Phe) c.1421A>T (p.Tyr474Phe) c.1544A>T (p.Tyr515Phe) c.1616A>T (p.Tyr539Phe) c.1700A>T (p.Tyr567Phe) c.1538A>T (p.Tyr513Phe) c.1325A>T (p.Tyr442Phe) c.1502A>T (p.Tyr501Phe) c.*841A>T (n.*841A>T) c.1442A>T (p.Tyr481Phe) c.*974A>T (n.*974A>T) c.1257A>T (n.1257A>T) c.*939A>T (n.*939A>T) c.1520A>T (p.Tyr507Phe) c.*800A>T (n.*800A>T) c.1628A>T (p.Tyr543Phe) c.950A>T (p.Tyr317Phe) c.1535A>T (p.Tyr512Phe) c.1404A>T (n.1404A>T) c.212A>T (p.Tyr71Phe) c.785A>T (p.Tyr262Phe) c.1463A>T (p.Tyr488Phe) c.1586A>T (p.Tyr529Phe) c.860A>T (p.Tyr287Phe) c.1466A>T (p.Tyr489Phe) n.2423+2628T>A n.1825A>T | |
10 | g.18539442C>A | CA5430134 | CACNB2,NSUN6 | c.1557C>A (p.Tyr519Ter) c.1422C>A (p.Tyr474Ter) c.1545C>A (p.Tyr515Ter) c.1617C>A (p.Tyr539Ter) c.1701C>A (p.Tyr567Ter) c.1539C>A (p.Tyr513Ter) c.1326C>A (p.Tyr442Ter) c.1503C>A (p.Tyr501Ter) c.*842C>A (n.*842C>A) c.1443C>A (p.Tyr481Ter) c.*975C>A (n.*975C>A) c.1258C>A (n.1258C>A) c.*940C>A (n.*940C>A) c.1521C>A (p.Tyr507Ter) c.*801C>A (n.*801C>A) c.1629C>A (p.Tyr543Ter) c.951C>A (p.Tyr317Ter) c.1536C>A (p.Tyr512Ter) c.1405C>A (n.1405C>A) c.213C>A (p.Tyr71Ter) c.786C>A (p.Tyr262Ter) c.1464C>A (p.Tyr488Ter) c.1587C>A (p.Tyr529Ter) c.861C>A (p.Tyr287Ter) c.1467C>A (p.Tyr489Ter) n.2423+2627G>T n.1826C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539442C= | CA1894173394 | CACNB2,NSUN6 | c.1557C= (p.Tyr519=) c.1422C= (p.Tyr474=) c.1545C= (p.Tyr515=) c.1617C= (p.Tyr539=) c.1701C= (p.Tyr567=) c.1539C= (p.Tyr513=) c.1326C= (p.Tyr442=) c.1503C= (p.Tyr501=) c.*842C= (n.*842C=) c.1443C= (p.Tyr481=) c.*975C= (n.*975C=) c.1258C= (n.1258C=) c.*940C= (n.*940C=) c.1521C= (p.Tyr507=) c.*801C= (n.*801C=) c.1629C= (p.Tyr543=) c.951C= (p.Tyr317=) c.1536C= (p.Tyr512=) c.1405C= (n.1405C=) c.213C= (p.Tyr71=) c.786C= (p.Tyr262=) c.1464C= (p.Tyr488=) c.1587C= (p.Tyr529=) c.861C= (p.Tyr287=) c.1467C= (p.Tyr489=) n.2423+2627G= n.1826C= | |
10 | g.18539442C>G | CA376071807 | CACNB2,NSUN6 | c.1557C>G (p.Tyr519Ter) c.1422C>G (p.Tyr474Ter) c.1545C>G (p.Tyr515Ter) c.1617C>G (p.Tyr539Ter) c.1701C>G (p.Tyr567Ter) c.1539C>G (p.Tyr513Ter) c.1326C>G (p.Tyr442Ter) c.1503C>G (p.Tyr501Ter) c.*842C>G (n.*842C>G) c.1443C>G (p.Tyr481Ter) c.*975C>G (n.*975C>G) c.1258C>G (n.1258C>G) c.*940C>G (n.*940C>G) c.1521C>G (p.Tyr507Ter) c.*801C>G (n.*801C>G) c.1629C>G (p.Tyr543Ter) c.951C>G (p.Tyr317Ter) c.1536C>G (p.Tyr512Ter) c.1405C>G (n.1405C>G) c.213C>G (p.Tyr71Ter) c.786C>G (p.Tyr262Ter) c.1464C>G (p.Tyr488Ter) c.1587C>G (p.Tyr529Ter) c.861C>G (p.Tyr287Ter) c.1467C>G (p.Tyr489Ter) n.2423+2627G>C n.1826C>G | ClinVar dbSNP gnomAD v4 |
10 | g.18539442C>T | CA5430133 | CACNB2,NSUN6 | c.1557C>T (p.Tyr519=) c.1422C>T (p.Tyr474=) c.1545C>T (p.Tyr515=) c.1617C>T (p.Tyr539=) c.1701C>T (p.Tyr567=) c.1539C>T (p.Tyr513=) c.1326C>T (p.Tyr442=) c.1503C>T (p.Tyr501=) c.*842C>T (n.*842C>T) c.1443C>T (p.Tyr481=) c.*975C>T (n.*975C>T) c.1258C>T (n.1258C>T) c.*940C>T (n.*940C>T) c.1521C>T (p.Tyr507=) c.*801C>T (n.*801C>T) c.1629C>T (p.Tyr543=) c.951C>T (p.Tyr317=) c.1536C>T (p.Tyr512=) c.1405C>T (n.1405C>T) c.213C>T (p.Tyr71=) c.786C>T (p.Tyr262=) c.1464C>T (p.Tyr488=) c.1587C>T (p.Tyr529=) c.861C>T (p.Tyr287=) c.1467C>T (p.Tyr489=) n.2423+2627G>A n.1826C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539443G>A | CA301823 | CACNB2,NSUN6 | c.1558G>A (p.Val520Ile) c.1423G>A (p.Val475Ile) c.1546G>A (p.Val516Ile) c.1618G>A (p.Val540Ile) c.1702G>A (p.Val568Ile) c.1540G>A (p.Val514Ile) c.1327G>A (p.Val443Ile) c.1504G>A (p.Val502Ile) c.*843G>A (n.*843G>A) c.1444G>A (p.Val482Ile) c.*976G>A (n.*976G>A) c.1259G>A (n.1259G>A) c.*941G>A (n.*941G>A) c.1522G>A (p.Val508Ile) c.*802G>A (n.*802G>A) c.1630G>A (p.Val544Ile) c.952G>A (p.Val318Ile) c.1537G>A (p.Val513Ile) c.1406G>A (n.1406G>A) c.214G>A (p.Val72Ile) c.787G>A (p.Val263Ile) c.1465G>A (p.Val489Ile) c.1588G>A (p.Val530Ile) c.862G>A (p.Val288Ile) c.1468G>A (p.Val490Ile) n.2423+2626C>T n.1827G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539443G>C | CA5430135 | CACNB2,NSUN6 | c.1558G>C (p.Val520Leu) c.1423G>C (p.Val475Leu) c.1546G>C (p.Val516Leu) c.1618G>C (p.Val540Leu) c.1702G>C (p.Val568Leu) c.1540G>C (p.Val514Leu) c.1327G>C (p.Val443Leu) c.1504G>C (p.Val502Leu) c.*843G>C (n.*843G>C) c.1444G>C (p.Val482Leu) c.*976G>C (n.*976G>C) c.1259G>C (n.1259G>C) c.*941G>C (n.*941G>C) c.1522G>C (p.Val508Leu) c.*802G>C (n.*802G>C) c.1630G>C (p.Val544Leu) c.952G>C (p.Val318Leu) c.1537G>C (p.Val513Leu) c.1406G>C (n.1406G>C) c.214G>C (p.Val72Leu) c.787G>C (p.Val263Leu) c.1465G>C (p.Val489Leu) c.1588G>C (p.Val530Leu) c.862G>C (p.Val288Leu) c.1468G>C (p.Val490Leu) n.2423+2626C>G n.1827G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539443G= | CA1894173408 | CACNB2,NSUN6 | c.1558G= (p.Val520=) c.1423G= (p.Val475=) c.1546G= (p.Val516=) c.1618G= (p.Val540=) c.1702G= (p.Val568=) c.1540G= (p.Val514=) c.1327G= (p.Val443=) c.1504G= (p.Val502=) c.*843G= (n.*843G=) c.1444G= (p.Val482=) c.*976G= (n.*976G=) c.1259G= (n.1259G=) c.*941G= (n.*941G=) c.1522G= (p.Val508=) c.*802G= (n.*802G=) c.1630G= (p.Val544=) c.952G= (p.Val318=) c.1537G= (p.Val513=) c.1406G= (n.1406G=) c.214G= (p.Val72=) c.787G= (p.Val263=) c.1465G= (p.Val489=) c.1588G= (p.Val530=) c.862G= (p.Val288=) c.1468G= (p.Val490=) n.2423+2626C= n.1827G= | |
10 | g.18539443G>T | CA5430136 | CACNB2,NSUN6 | c.1558G>T (p.Val520Leu) c.1423G>T (p.Val475Leu) c.1546G>T (p.Val516Leu) c.1618G>T (p.Val540Leu) c.1702G>T (p.Val568Leu) c.1540G>T (p.Val514Leu) c.1327G>T (p.Val443Leu) c.1504G>T (p.Val502Leu) c.*843G>T (n.*843G>T) c.1444G>T (p.Val482Leu) c.*976G>T (n.*976G>T) c.1259G>T (n.1259G>T) c.*941G>T (n.*941G>T) c.1522G>T (p.Val508Leu) c.*802G>T (n.*802G>T) c.1630G>T (p.Val544Leu) c.952G>T (p.Val318Leu) c.1537G>T (p.Val513Leu) c.1406G>T (n.1406G>T) c.214G>T (p.Val72Leu) c.787G>T (p.Val263Leu) c.1465G>T (p.Val489Leu) c.1588G>T (p.Val530Leu) c.862G>T (p.Val288Leu) c.1468G>T (p.Val490Leu) n.2423+2626C>A n.1827G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.18539444T>A | CA376071817 | CACNB2,NSUN6 | c.1559T>A (p.Val520Glu) c.1424T>A (p.Val475Glu) c.1547T>A (p.Val516Glu) c.1619T>A (p.Val540Glu) c.1703T>A (p.Val568Glu) c.1541T>A (p.Val514Glu) c.1328T>A (p.Val443Glu) c.1505T>A (p.Val502Glu) c.*844T>A (n.*844T>A) c.1445T>A (p.Val482Glu) c.*977T>A (n.*977T>A) c.1260T>A (n.1260T>A) c.*942T>A (n.*942T>A) c.1523T>A (p.Val508Glu) c.*803T>A (n.*803T>A) c.1631T>A (p.Val544Glu) c.953T>A (p.Val318Glu) c.1538T>A (p.Val513Glu) c.1407T>A (n.1407T>A) c.215T>A (p.Val72Glu) c.788T>A (p.Val263Glu) c.1466T>A (p.Val489Glu) c.1589T>A (p.Val530Glu) c.863T>A (p.Val288Glu) c.1469T>A (p.Val490Glu) n.2423+2625A>T n.1828T>A | |
10 | g.18539444T>C | CA376071823 | CACNB2,NSUN6 | c.1559T>C (p.Val520Ala) c.1424T>C (p.Val475Ala) c.1547T>C (p.Val516Ala) c.1619T>C (p.Val540Ala) c.1703T>C (p.Val568Ala) c.1541T>C (p.Val514Ala) c.1328T>C (p.Val443Ala) c.1505T>C (p.Val502Ala) c.*844T>C (n.*844T>C) c.1445T>C (p.Val482Ala) c.*977T>C (n.*977T>C) c.1260T>C (n.1260T>C) c.*942T>C (n.*942T>C) c.1523T>C (p.Val508Ala) c.*803T>C (n.*803T>C) c.1631T>C (p.Val544Ala) c.953T>C (p.Val318Ala) c.1538T>C (p.Val513Ala) c.1407T>C (n.1407T>C) c.215T>C (p.Val72Ala) c.788T>C (p.Val263Ala) c.1466T>C (p.Val489Ala) c.1589T>C (p.Val530Ala) c.863T>C (p.Val288Ala) c.1469T>C (p.Val490Ala) n.2423+2625A>G n.1828T>C | |
10 | g.18539444T>G | CA376071826 | CACNB2,NSUN6 | c.1559T>G (p.Val520Gly) c.1424T>G (p.Val475Gly) c.1547T>G (p.Val516Gly) c.1619T>G (p.Val540Gly) c.1703T>G (p.Val568Gly) c.1541T>G (p.Val514Gly) c.1328T>G (p.Val443Gly) c.1505T>G (p.Val502Gly) c.*844T>G (n.*844T>G) c.1445T>G (p.Val482Gly) c.*977T>G (n.*977T>G) c.1260T>G (n.1260T>G) c.*942T>G (n.*942T>G) c.1523T>G (p.Val508Gly) c.*803T>G (n.*803T>G) c.1631T>G (p.Val544Gly) c.953T>G (p.Val318Gly) c.1538T>G (p.Val513Gly) c.1407T>G (n.1407T>G) c.215T>G (p.Val72Gly) c.788T>G (p.Val263Gly) c.1466T>G (p.Val489Gly) c.1589T>G (p.Val530Gly) c.863T>G (p.Val288Gly) c.1469T>G (p.Val490Gly) n.2423+2625A>C n.1828T>G | |
10 | g.18539445A>C | CA468629205 | CACNB2,NSUN6 | c.1560A>C (p.Val520=) c.1425A>C (p.Val475=) c.1548A>C (p.Val516=) c.1620A>C (p.Val540=) c.1704A>C (p.Val568=) c.1542A>C (p.Val514=) c.1329A>C (p.Val443=) c.1506A>C (p.Val502=) c.*845A>C (n.*845A>C) c.1446A>C (p.Val482=) c.*978A>C (n.*978A>C) c.1261A>C (n.1261A>C) c.*943A>C (n.*943A>C) c.1524A>C (p.Val508=) c.*804A>C (n.*804A>C) c.1632A>C (p.Val544=) c.954A>C (p.Val318=) c.1539A>C (p.Val513=) c.1408A>C (n.1408A>C) c.216A>C (p.Val72=) c.789A>C (p.Val263=) c.1467A>C (p.Val489=) c.1590A>C (p.Val530=) c.864A>C (p.Val288=) c.1470A>C (p.Val490=) n.2423+2624T>G n.1829A>C | |
10 | g.18539445A>G | CA468629208 | CACNB2,NSUN6 | c.1560A>G (p.Val520=) c.1425A>G (p.Val475=) c.1548A>G (p.Val516=) c.1620A>G (p.Val540=) c.1704A>G (p.Val568=) c.1542A>G (p.Val514=) c.1329A>G (p.Val443=) c.1506A>G (p.Val502=) c.*845A>G (n.*845A>G) c.1446A>G (p.Val482=) c.*978A>G (n.*978A>G) c.1261A>G (n.1261A>G) c.*943A>G (n.*943A>G) c.1524A>G (p.Val508=) c.*804A>G (n.*804A>G) c.1632A>G (p.Val544=) c.954A>G (p.Val318=) c.1539A>G (p.Val513=) c.1408A>G (n.1408A>G) c.216A>G (p.Val72=) c.789A>G (p.Val263=) c.1467A>G (p.Val489=) c.1590A>G (p.Val530=) c.864A>G (p.Val288=) c.1470A>G (p.Val490=) n.2423+2624T>C n.1829A>G | |
10 | g.18539445A>T | CA468629212 | CACNB2,NSUN6 | c.1560A>T (p.Val520=) c.1425A>T (p.Val475=) c.1548A>T (p.Val516=) c.1620A>T (p.Val540=) c.1704A>T (p.Val568=) c.1542A>T (p.Val514=) c.1329A>T (p.Val443=) c.1506A>T (p.Val502=) c.*845A>T (n.*845A>T) c.1446A>T (p.Val482=) c.*978A>T (n.*978A>T) c.1261A>T (n.1261A>T) c.*943A>T (n.*943A>T) c.1524A>T (p.Val508=) c.*804A>T (n.*804A>T) c.1632A>T (p.Val544=) c.954A>T (p.Val318=) c.1539A>T (p.Val513=) c.1408A>T (n.1408A>T) c.216A>T (p.Val72=) c.789A>T (p.Val263=) c.1467A>T (p.Val489=) c.1590A>T (p.Val530=) c.864A>T (p.Val288=) c.1470A>T (p.Val490=) n.2423+2624T>A n.1829A>T | |
10 | g.18539446G>A | CA376071829 | CACNB2,NSUN6 | c.1561G>A (p.Glu521Lys) c.1426G>A (p.Glu476Lys) c.1549G>A (p.Glu517Lys) c.1621G>A (p.Glu541Lys) c.1705G>A (p.Glu569Lys) c.1543G>A (p.Glu515Lys) c.1330G>A (p.Glu444Lys) c.1507G>A (p.Glu503Lys) c.*846G>A (n.*846G>A) c.1447G>A (p.Glu483Lys) c.*979G>A (n.*979G>A) c.1262G>A (n.1262G>A) c.*944G>A (n.*944G>A) c.1525G>A (p.Glu509Lys) c.*805G>A (n.*805G>A) c.1633G>A (p.Glu545Lys) c.955G>A (p.Glu319Lys) c.1540G>A (p.Glu514Lys) c.1409G>A (n.1409G>A) c.217G>A (p.Glu73Lys) c.790G>A (p.Glu264Lys) c.1468G>A (p.Glu490Lys) c.1591G>A (p.Glu531Lys) c.865G>A (p.Glu289Lys) c.1471G>A (p.Glu491Lys) n.2423+2623C>T n.1830G>A | |
10 | g.18539446G>C | CA376071831 | CACNB2,NSUN6 | c.1561G>C (p.Glu521Gln) c.1426G>C (p.Glu476Gln) c.1549G>C (p.Glu517Gln) c.1621G>C (p.Glu541Gln) c.1705G>C (p.Glu569Gln) c.1543G>C (p.Glu515Gln) c.1330G>C (p.Glu444Gln) c.1507G>C (p.Glu503Gln) c.*846G>C (n.*846G>C) c.1447G>C (p.Glu483Gln) c.*979G>C (n.*979G>C) c.1262G>C (n.1262G>C) c.*944G>C (n.*944G>C) c.1525G>C (p.Glu509Gln) c.*805G>C (n.*805G>C) c.1633G>C (p.Glu545Gln) c.955G>C (p.Glu319Gln) c.1540G>C (p.Glu514Gln) c.1409G>C (n.1409G>C) c.217G>C (p.Glu73Gln) c.790G>C (p.Glu264Gln) c.1468G>C (p.Glu490Gln) c.1591G>C (p.Glu531Gln) c.865G>C (p.Glu289Gln) c.1471G>C (p.Glu491Gln) n.2423+2623C>G n.1830G>C | |
10 | g.18539446G= | CA1894173415 | CACNB2,NSUN6 | c.1561G= (p.Glu521=) c.1426G= (p.Glu476=) c.1549G= (p.Glu517=) c.1621G= (p.Glu541=) c.1705G= (p.Glu569=) c.1543G= (p.Glu515=) c.1330G= (p.Glu444=) c.1507G= (p.Glu503=) c.*846G= (n.*846G=) c.1447G= (p.Glu483=) c.*979G= (n.*979G=) c.1262G= (n.1262G=) c.*944G= (n.*944G=) c.1525G= (p.Glu509=) c.*805G= (n.*805G=) c.1633G= (p.Glu545=) c.955G= (p.Glu319=) c.1540G= (p.Glu514=) c.1409G= (n.1409G=) c.217G= (p.Glu73=) c.790G= (p.Glu264=) c.1468G= (p.Glu490=) c.1591G= (p.Glu531=) c.865G= (p.Glu289=) c.1471G= (p.Glu491=) n.2423+2623C= n.1830G= | |
10 | g.18539446G>T | CA376071835 | CACNB2,NSUN6 | c.1561G>T (p.Glu521Ter) c.1426G>T (p.Glu476Ter) c.1549G>T (p.Glu517Ter) c.1621G>T (p.Glu541Ter) c.1705G>T (p.Glu569Ter) c.1543G>T (p.Glu515Ter) c.1330G>T (p.Glu444Ter) c.1507G>T (p.Glu503Ter) c.*846G>T (n.*846G>T) c.1447G>T (p.Glu483Ter) c.*979G>T (n.*979G>T) c.1262G>T (n.1262G>T) c.*944G>T (n.*944G>T) c.1525G>T (p.Glu509Ter) c.*805G>T (n.*805G>T) c.1633G>T (p.Glu545Ter) c.955G>T (p.Glu319Ter) c.1540G>T (p.Glu514Ter) c.1409G>T (n.1409G>T) c.217G>T (p.Glu73Ter) c.790G>T (p.Glu264Ter) c.1468G>T (p.Glu490Ter) c.1591G>T (p.Glu531Ter) c.865G>T (p.Glu289Ter) c.1471G>T (p.Glu491Ter) n.2423+2623C>A n.1830G>T | dbSNP |
10 | g.18539447A>C | CA376071836 | CACNB2,NSUN6 | c.1562A>C (p.Glu521Ala) c.1427A>C (p.Glu476Ala) c.1550A>C (p.Glu517Ala) c.1622A>C (p.Glu541Ala) c.1706A>C (p.Glu569Ala) c.1544A>C (p.Glu515Ala) c.1331A>C (p.Glu444Ala) c.1508A>C (p.Glu503Ala) c.*847A>C (n.*847A>C) c.1448A>C (p.Glu483Ala) c.*980A>C (n.*980A>C) c.1263A>C (n.1263A>C) c.*945A>C (n.*945A>C) c.1526A>C (p.Glu509Ala) c.*806A>C (n.*806A>C) c.1634A>C (p.Glu545Ala) c.956A>C (p.Glu319Ala) c.1541A>C (p.Glu514Ala) c.1410A>C (n.1410A>C) c.218A>C (p.Glu73Ala) c.791A>C (p.Glu264Ala) c.1469A>C (p.Glu490Ala) c.1592A>C (p.Glu531Ala) c.866A>C (p.Glu289Ala) c.1472A>C (p.Glu491Ala) n.2423+2622T>G n.1831A>C | |
10 | g.18539447A>G | CA376071838 | CACNB2,NSUN6 | c.1562A>G (p.Glu521Gly) c.1427A>G (p.Glu476Gly) c.1550A>G (p.Glu517Gly) c.1622A>G (p.Glu541Gly) c.1706A>G (p.Glu569Gly) c.1544A>G (p.Glu515Gly) c.1331A>G (p.Glu444Gly) c.1508A>G (p.Glu503Gly) c.*847A>G (n.*847A>G) c.1448A>G (p.Glu483Gly) c.*980A>G (n.*980A>G) c.1263A>G (n.1263A>G) c.*945A>G (n.*945A>G) c.1526A>G (p.Glu509Gly) c.*806A>G (n.*806A>G) c.1634A>G (p.Glu545Gly) c.956A>G (p.Glu319Gly) c.1541A>G (p.Glu514Gly) c.1410A>G (n.1410A>G) c.218A>G (p.Glu73Gly) c.791A>G (p.Glu264Gly) c.1469A>G (p.Glu490Gly) c.1592A>G (p.Glu531Gly) c.866A>G (p.Glu289Gly) c.1472A>G (p.Glu491Gly) n.2423+2622T>C n.1831A>G | |
10 | g.18539447A>T | CA376071839 | CACNB2,NSUN6 | c.1562A>T (p.Glu521Val) c.1427A>T (p.Glu476Val) c.1550A>T (p.Glu517Val) c.1622A>T (p.Glu541Val) c.1706A>T (p.Glu569Val) c.1544A>T (p.Glu515Val) c.1331A>T (p.Glu444Val) c.1508A>T (p.Glu503Val) c.*847A>T (n.*847A>T) c.1448A>T (p.Glu483Val) c.*980A>T (n.*980A>T) c.1263A>T (n.1263A>T) c.*945A>T (n.*945A>T) c.1526A>T (p.Glu509Val) c.*806A>T (n.*806A>T) c.1634A>T (p.Glu545Val) c.956A>T (p.Glu319Val) c.1541A>T (p.Glu514Val) c.1410A>T (n.1410A>T) c.218A>T (p.Glu73Val) c.791A>T (p.Glu264Val) c.1469A>T (p.Glu490Val) c.1592A>T (p.Glu531Val) c.866A>T (p.Glu289Val) c.1472A>T (p.Glu491Val) n.2423+2622T>A n.1831A>T | |
10 | g.18539448G>A | CA468629228 | CACNB2,NSUN6 | c.1563G>A (p.Glu521=) c.1428G>A (p.Glu476=) c.1551G>A (p.Glu517=) c.1623G>A (p.Glu541=) c.1707G>A (p.Glu569=) c.1545G>A (p.Glu515=) c.1332G>A (p.Glu444=) c.1509G>A (p.Glu503=) c.*848G>A (n.*848G>A) c.1449G>A (p.Glu483=) c.*981G>A (n.*981G>A) c.1264G>A (n.1264G>A) c.*946G>A (n.*946G>A) c.1527G>A (p.Glu509=) c.*807G>A (n.*807G>A) c.1635G>A (p.Glu545=) c.957G>A (p.Glu319=) c.1542G>A (p.Glu514=) c.1411G>A (n.1411G>A) c.219G>A (p.Glu73=) c.792G>A (p.Glu264=) c.1470G>A (p.Glu490=) c.1593G>A (p.Glu531=) c.867G>A (p.Glu289=) c.1473G>A (p.Glu491=) n.2423+2621C>T n.1832G>A | |
10 | g.18539448G>C | CA376071844 | CACNB2,NSUN6 | c.1563G>C (p.Glu521Asp) c.1428G>C (p.Glu476Asp) c.1551G>C (p.Glu517Asp) c.1623G>C (p.Glu541Asp) c.1707G>C (p.Glu569Asp) c.1545G>C (p.Glu515Asp) c.1332G>C (p.Glu444Asp) c.1509G>C (p.Glu503Asp) c.*848G>C (n.*848G>C) c.1449G>C (p.Glu483Asp) c.*981G>C (n.*981G>C) c.1264G>C (n.1264G>C) c.*946G>C (n.*946G>C) c.1527G>C (p.Glu509Asp) c.*807G>C (n.*807G>C) c.1635G>C (p.Glu545Asp) c.957G>C (p.Glu319Asp) c.1542G>C (p.Glu514Asp) c.1411G>C (n.1411G>C) c.219G>C (p.Glu73Asp) c.792G>C (p.Glu264Asp) c.1470G>C (p.Glu490Asp) c.1593G>C (p.Glu531Asp) c.867G>C (p.Glu289Asp) c.1473G>C (p.Glu491Asp) n.2423+2621C>G n.1832G>C | |
10 | g.18539448G>T | CA376071841 | CACNB2,NSUN6 | c.1563G>T (p.Glu521Asp) c.1428G>T (p.Glu476Asp) c.1551G>T (p.Glu517Asp) c.1623G>T (p.Glu541Asp) c.1707G>T (p.Glu569Asp) c.1545G>T (p.Glu515Asp) c.1332G>T (p.Glu444Asp) c.1509G>T (p.Glu503Asp) c.*848G>T (n.*848G>T) c.1449G>T (p.Glu483Asp) c.*981G>T (n.*981G>T) c.1264G>T (n.1264G>T) c.*946G>T (n.*946G>T) c.1527G>T (p.Glu509Asp) c.*807G>T (n.*807G>T) c.1635G>T (p.Glu545Asp) c.957G>T (p.Glu319Asp) c.1542G>T (p.Glu514Asp) c.1411G>T (n.1411G>T) c.219G>T (p.Glu73Asp) c.792G>T (p.Glu264Asp) c.1470G>T (p.Glu490Asp) c.1593G>T (p.Glu531Asp) c.867G>T (p.Glu289Asp) c.1473G>T (p.Glu491Asp) n.2423+2621C>A n.1832G>T |