Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.18539252_18539269delCA2608435587CACNB2,NSUN6c.1367_1384del (p.Thr456_Pro461del)
c.1232_1249del (p.Thr411_Pro416del)
c.1355_1372del (p.Thr452_Pro457del)
c.1427_1444del (p.Thr476_Pro481del)
c.1511_1528del (p.Thr504_Pro509del)
c.1349_1366del (p.Thr450_Pro455del)
c.1136_1153del (p.Thr379_Pro384del)
c.1313_1330del (p.Thr438_Pro443del)
c.*652_*669del (n.*652_*669del)
c.1253_1270del (p.Thr418_Pro423del)
c.*785_*802del (n.*785_*802del)
c.1068_1085del (n.1068_1085del)
c.*750_*767del (n.*750_*767del)
c.1331_1348del (p.Thr444_Pro449del)
c.*611_*628del (n.*611_*628del)
c.1439_1456del (p.Thr480_Pro485del)
c.761_778del (p.Thr254_Pro259del)
c.1346_1363del (p.Thr449_Pro454del)
c.1215_1232del (n.1215_1232del)
c.35-12_40del
c.596_613del (p.Thr199_Pro204del)
c.1274_1291del (p.Thr425_Pro430del)
c.1397_1414del (p.Thr466_Pro471del)
c.671_688del (p.Thr224_Pro229del)
c.1277_1294del (p.Thr426_Pro431del)
n.2423+2801_2423+2818del
n.1636_1653del
 gnomAD v4
10g.18539253T>ACA5430081CACNB2,NSUN6c.1368T>A (p.Thr456=)
c.1233T>A (p.Thr411=)
c.1356T>A (p.Thr452=)
c.1428T>A (p.Thr476=)
c.1512T>A (p.Thr504=)
c.1350T>A (p.Thr450=)
c.1137T>A (p.Thr379=)
c.1314T>A (p.Thr438=)
c.*653T>A (n.*653T>A)
c.1254T>A (p.Thr418=)
c.*786T>A (n.*786T>A)
c.1069T>A (n.1069T>A)
c.*751T>A (n.*751T>A)
c.1332T>A (p.Thr444=)
c.*612T>A (n.*612T>A)
c.1440T>A (p.Thr480=)
c.762T>A (p.Thr254=)
c.1347T>A (p.Thr449=)
c.1216T>A (n.1216T>A)
c.35-11T>A (n.35-11T>A)
c.597T>A (p.Thr199=)
c.1275T>A (p.Thr425=)
c.1398T>A (p.Thr466=)
c.672T>A (p.Thr224=)
c.1278T>A (p.Thr426=)
n.13A>T
n.2423+2816A>T
n.1637T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539253T>CCA468440500CACNB2,NSUN6c.1368T>C (p.Thr456=)
c.1233T>C (p.Thr411=)
c.1356T>C (p.Thr452=)
c.1428T>C (p.Thr476=)
c.1512T>C (p.Thr504=)
c.1350T>C (p.Thr450=)
c.1137T>C (p.Thr379=)
c.1314T>C (p.Thr438=)
c.*653T>C (n.*653T>C)
c.1254T>C (p.Thr418=)
c.*786T>C (n.*786T>C)
c.1069T>C (n.1069T>C)
c.*751T>C (n.*751T>C)
c.1332T>C (p.Thr444=)
c.*612T>C (n.*612T>C)
c.1440T>C (p.Thr480=)
c.762T>C (p.Thr254=)
c.1347T>C (p.Thr449=)
c.1216T>C (n.1216T>C)
c.35-11T>C (n.35-11T>C)
c.597T>C (p.Thr199=)
c.1275T>C (p.Thr425=)
c.1398T>C (p.Thr466=)
c.672T>C (p.Thr224=)
c.1278T>C (p.Thr426=)
n.13A>G
n.2423+2816A>G
n.1637T>C
10g.18539253T>GCA468440501CACNB2,NSUN6c.1368T>G (p.Thr456=)
c.1233T>G (p.Thr411=)
c.1356T>G (p.Thr452=)
c.1428T>G (p.Thr476=)
c.1512T>G (p.Thr504=)
c.1350T>G (p.Thr450=)
c.1137T>G (p.Thr379=)
c.1314T>G (p.Thr438=)
c.*653T>G (n.*653T>G)
c.1254T>G (p.Thr418=)
c.*786T>G (n.*786T>G)
c.1069T>G (n.1069T>G)
c.*751T>G (n.*751T>G)
c.1332T>G (p.Thr444=)
c.*612T>G (n.*612T>G)
c.1440T>G (p.Thr480=)
c.762T>G (p.Thr254=)
c.1347T>G (p.Thr449=)
c.1216T>G (n.1216T>G)
c.35-11T>G (n.35-11T>G)
c.597T>G (p.Thr199=)
c.1275T>G (p.Thr425=)
c.1398T>G (p.Thr466=)
c.672T>G (p.Thr224=)
c.1278T>G (p.Thr426=)
n.13A>C
n.2423+2816A>C
n.1637T>G
 ClinVar dbSNP gnomAD v2
10g.18539253T=CA1894172730CACNB2,NSUN6c.1368T= (p.Thr456=)
c.1233T= (p.Thr411=)
c.1356T= (p.Thr452=)
c.1428T= (p.Thr476=)
c.1512T= (p.Thr504=)
c.1350T= (p.Thr450=)
c.1137T= (p.Thr379=)
c.1314T= (p.Thr438=)
c.*653T= (n.*653T=)
c.1254T= (p.Thr418=)
c.*786T= (n.*786T=)
c.1069T= (n.1069T=)
c.*751T= (n.*751T=)
c.1332T= (p.Thr444=)
c.*612T= (n.*612T=)
c.1440T= (p.Thr480=)
c.762T= (p.Thr254=)
c.1347T= (p.Thr449=)
c.1216T= (n.1216T=)
c.35-11T= (n.35-11T=)
c.597T= (p.Thr199=)
c.1275T= (p.Thr425=)
c.1398T= (p.Thr466=)
c.672T= (p.Thr224=)
c.1278T= (p.Thr426=)
n.13A=
n.2423+2816A=
n.1637T=
10g.18539254G>ACA376071144CACNB2,NSUN6c.1369G>A (p.Asp457Asn)
c.1234G>A (p.Asp412Asn)
c.1357G>A (p.Asp453Asn)
c.1429G>A (p.Asp477Asn)
c.1513G>A (p.Asp505Asn)
c.1351G>A (p.Asp451Asn)
c.1138G>A (p.Asp380Asn)
c.1315G>A (p.Asp439Asn)
c.*654G>A (n.*654G>A)
c.1255G>A (p.Asp419Asn)
c.*787G>A (n.*787G>A)
c.1070G>A (n.1070G>A)
c.*752G>A (n.*752G>A)
c.1333G>A (p.Asp445Asn)
c.*613G>A (n.*613G>A)
c.1441G>A (p.Asp481Asn)
c.763G>A (p.Asp255Asn)
c.1348G>A (p.Asp450Asn)
c.1217G>A (n.1217G>A)
c.35-10G>A (n.35-10G>A)
c.598G>A (p.Asp200Asn)
c.1276G>A (p.Asp426Asn)
c.1399G>A (p.Asp467Asn)
c.673G>A (p.Asp225Asn)
c.1279G>A (p.Asp427Asn)
n.12C>T
n.2423+2815C>T
n.1638G>A
 gnomAD v4
10g.18539254G>CCA376071146CACNB2,NSUN6c.1369G>C (p.Asp457His)
c.1234G>C (p.Asp412His)
c.1357G>C (p.Asp453His)
c.1429G>C (p.Asp477His)
c.1513G>C (p.Asp505His)
c.1351G>C (p.Asp451His)
c.1138G>C (p.Asp380His)
c.1315G>C (p.Asp439His)
c.*654G>C (n.*654G>C)
c.1255G>C (p.Asp419His)
c.*787G>C (n.*787G>C)
c.1070G>C (n.1070G>C)
c.*752G>C (n.*752G>C)
c.1333G>C (p.Asp445His)
c.*613G>C (n.*613G>C)
c.1441G>C (p.Asp481His)
c.763G>C (p.Asp255His)
c.1348G>C (p.Asp450His)
c.1217G>C (n.1217G>C)
c.35-10G>C (n.35-10G>C)
c.598G>C (p.Asp200His)
c.1276G>C (p.Asp426His)
c.1399G>C (p.Asp467His)
c.673G>C (p.Asp225His)
c.1279G>C (p.Asp427His)
n.12C>G
n.2423+2815C>G
n.1638G>C
 dbSNP gnomAD v2 gnomAD v4
10g.18539254G=CA1894172735CACNB2,NSUN6c.1369G= (p.Asp457=)
c.1234G= (p.Asp412=)
c.1357G= (p.Asp453=)
c.1429G= (p.Asp477=)
c.1513G= (p.Asp505=)
c.1351G= (p.Asp451=)
c.1138G= (p.Asp380=)
c.1315G= (p.Asp439=)
c.*654G= (n.*654G=)
c.1255G= (p.Asp419=)
c.*787G= (n.*787G=)
c.1070G= (n.1070G=)
c.*752G= (n.*752G=)
c.1333G= (p.Asp445=)
c.*613G= (n.*613G=)
c.1441G= (p.Asp481=)
c.763G= (p.Asp255=)
c.1348G= (p.Asp450=)
c.1217G= (n.1217G=)
c.35-10G= (n.35-10G=)
c.598G= (p.Asp200=)
c.1276G= (p.Asp426=)
c.1399G= (p.Asp467=)
c.673G= (p.Asp225=)
c.1279G= (p.Asp427=)
n.12C=
n.2423+2815C=
n.1638G=
10g.18539254G>TCA376071147CACNB2,NSUN6c.1369G>T (p.Asp457Tyr)
c.1234G>T (p.Asp412Tyr)
c.1357G>T (p.Asp453Tyr)
c.1429G>T (p.Asp477Tyr)
c.1513G>T (p.Asp505Tyr)
c.1351G>T (p.Asp451Tyr)
c.1138G>T (p.Asp380Tyr)
c.1315G>T (p.Asp439Tyr)
c.*654G>T (n.*654G>T)
c.1255G>T (p.Asp419Tyr)
c.*787G>T (n.*787G>T)
c.1070G>T (n.1070G>T)
c.*752G>T (n.*752G>T)
c.1333G>T (p.Asp445Tyr)
c.*613G>T (n.*613G>T)
c.1441G>T (p.Asp481Tyr)
c.763G>T (p.Asp255Tyr)
c.1348G>T (p.Asp450Tyr)
c.1217G>T (n.1217G>T)
c.35-10G>T (n.35-10G>T)
c.598G>T (p.Asp200Tyr)
c.1276G>T (p.Asp426Tyr)
c.1399G>T (p.Asp467Tyr)
c.673G>T (p.Asp225Tyr)
c.1279G>T (p.Asp427Tyr)
n.12C>A
n.2423+2815C>A
n.1638G>T
10g.18539255A>CCA376071148CACNB2,NSUN6c.1370A>C (p.Asp457Ala)
c.1235A>C (p.Asp412Ala)
c.1358A>C (p.Asp453Ala)
c.1430A>C (p.Asp477Ala)
c.1514A>C (p.Asp505Ala)
c.1352A>C (p.Asp451Ala)
c.1139A>C (p.Asp380Ala)
c.1316A>C (p.Asp439Ala)
c.*655A>C (n.*655A>C)
c.1256A>C (p.Asp419Ala)
c.*788A>C (n.*788A>C)
c.1071A>C (n.1071A>C)
c.*753A>C (n.*753A>C)
c.1334A>C (p.Asp445Ala)
c.*614A>C (n.*614A>C)
c.1442A>C (p.Asp481Ala)
c.764A>C (p.Asp255Ala)
c.1349A>C (p.Asp450Ala)
c.1218A>C (n.1218A>C)
c.35-9A>C (n.35-9A>C)
c.599A>C (p.Asp200Ala)
c.1277A>C (p.Asp426Ala)
c.1400A>C (p.Asp467Ala)
c.674A>C (p.Asp225Ala)
c.1280A>C (p.Asp427Ala)
n.11T>G
n.2423+2814T>G
n.1639A>C
10g.18539255A>GCA376071150CACNB2,NSUN6c.1370A>G (p.Asp457Gly)
c.1235A>G (p.Asp412Gly)
c.1358A>G (p.Asp453Gly)
c.1430A>G (p.Asp477Gly)
c.1514A>G (p.Asp505Gly)
c.1352A>G (p.Asp451Gly)
c.1139A>G (p.Asp380Gly)
c.1316A>G (p.Asp439Gly)
c.*655A>G (n.*655A>G)
c.1256A>G (p.Asp419Gly)
c.*788A>G (n.*788A>G)
c.1071A>G (n.1071A>G)
c.*753A>G (n.*753A>G)
c.1334A>G (p.Asp445Gly)
c.*614A>G (n.*614A>G)
c.1442A>G (p.Asp481Gly)
c.764A>G (p.Asp255Gly)
c.1349A>G (p.Asp450Gly)
c.1218A>G (n.1218A>G)
c.35-9A>G (n.35-9A>G)
c.599A>G (p.Asp200Gly)
c.1277A>G (p.Asp426Gly)
c.1400A>G (p.Asp467Gly)
c.674A>G (p.Asp225Gly)
c.1280A>G (p.Asp427Gly)
n.11T>C
n.2423+2814T>C
n.1639A>G
10g.18539255A>TCA376071151CACNB2,NSUN6c.1370A>T (p.Asp457Val)
c.1235A>T (p.Asp412Val)
c.1358A>T (p.Asp453Val)
c.1430A>T (p.Asp477Val)
c.1514A>T (p.Asp505Val)
c.1352A>T (p.Asp451Val)
c.1139A>T (p.Asp380Val)
c.1316A>T (p.Asp439Val)
c.*655A>T (n.*655A>T)
c.1256A>T (p.Asp419Val)
c.*788A>T (n.*788A>T)
c.1071A>T (n.1071A>T)
c.*753A>T (n.*753A>T)
c.1334A>T (p.Asp445Val)
c.*614A>T (n.*614A>T)
c.1442A>T (p.Asp481Val)
c.764A>T (p.Asp255Val)
c.1349A>T (p.Asp450Val)
c.1218A>T (n.1218A>T)
c.35-9A>T (n.35-9A>T)
c.599A>T (p.Asp200Val)
c.1277A>T (p.Asp426Val)
c.1400A>T (p.Asp467Val)
c.674A>T (p.Asp225Val)
c.1280A>T (p.Asp427Val)
n.11T>A
n.2423+2814T>A
n.1639A>T
 gnomAD v4
10g.18539256T>ACA376071153CACNB2,NSUN6c.1371T>A (p.Asp457Glu)
c.1236T>A (p.Asp412Glu)
c.1359T>A (p.Asp453Glu)
c.1431T>A (p.Asp477Glu)
c.1515T>A (p.Asp505Glu)
c.1353T>A (p.Asp451Glu)
c.1140T>A (p.Asp380Glu)
c.1317T>A (p.Asp439Glu)
c.*656T>A (n.*656T>A)
c.1257T>A (p.Asp419Glu)
c.*789T>A (n.*789T>A)
c.1072T>A (n.1072T>A)
c.*754T>A (n.*754T>A)
c.1335T>A (p.Asp445Glu)
c.*615T>A (n.*615T>A)
c.1443T>A (p.Asp481Glu)
c.765T>A (p.Asp255Glu)
c.1350T>A (p.Asp450Glu)
c.1219T>A (n.1219T>A)
c.35-8T>A (n.35-8T>A)
c.600T>A (p.Asp200Glu)
c.1278T>A (p.Asp426Glu)
c.1401T>A (p.Asp467Glu)
c.675T>A (p.Asp225Glu)
c.1281T>A (p.Asp427Glu)
n.10A>T
n.2423+2813A>T
n.1640T>A
10g.18539256T>CCA468440502CACNB2,NSUN6c.1371T>C (p.Asp457=)
c.1236T>C (p.Asp412=)
c.1359T>C (p.Asp453=)
c.1431T>C (p.Asp477=)
c.1515T>C (p.Asp505=)
c.1353T>C (p.Asp451=)
c.1140T>C (p.Asp380=)
c.1317T>C (p.Asp439=)
c.*656T>C (n.*656T>C)
c.1257T>C (p.Asp419=)
c.*789T>C (n.*789T>C)
c.1072T>C (n.1072T>C)
c.*754T>C (n.*754T>C)
c.1335T>C (p.Asp445=)
c.*615T>C (n.*615T>C)
c.1443T>C (p.Asp481=)
c.765T>C (p.Asp255=)
c.1350T>C (p.Asp450=)
c.1219T>C (n.1219T>C)
c.35-8T>C (n.35-8T>C)
c.600T>C (p.Asp200=)
c.1278T>C (p.Asp426=)
c.1401T>C (p.Asp467=)
c.675T>C (p.Asp225=)
c.1281T>C (p.Asp427=)
n.10A>G
n.2423+2813A>G
n.1640T>C
 gnomAD v4
10g.18539256T>GCA376071155CACNB2,NSUN6c.1371T>G (p.Asp457Glu)
c.1236T>G (p.Asp412Glu)
c.1359T>G (p.Asp453Glu)
c.1431T>G (p.Asp477Glu)
c.1515T>G (p.Asp505Glu)
c.1353T>G (p.Asp451Glu)
c.1140T>G (p.Asp380Glu)
c.1317T>G (p.Asp439Glu)
c.*656T>G (n.*656T>G)
c.1257T>G (p.Asp419Glu)
c.*789T>G (n.*789T>G)
c.1072T>G (n.1072T>G)
c.*754T>G (n.*754T>G)
c.1335T>G (p.Asp445Glu)
c.*615T>G (n.*615T>G)
c.1443T>G (p.Asp481Glu)
c.765T>G (p.Asp255Glu)
c.1350T>G (p.Asp450Glu)
c.1219T>G (n.1219T>G)
c.35-8T>G (n.35-8T>G)
c.600T>G (p.Asp200Glu)
c.1278T>G (p.Asp426Glu)
c.1401T>G (p.Asp467Glu)
c.675T>G (p.Asp225Glu)
c.1281T>G (p.Asp427Glu)
n.10A>C
n.2423+2813A>C
n.1640T>G
10g.18539257C>ACA376071157CACNB2,NSUN6c.1372C>A (p.Arg458Ser)
c.1237C>A (p.Arg413Ser)
c.1360C>A (p.Arg454Ser)
c.1432C>A (p.Arg478Ser)
c.1516C>A (p.Arg506Ser)
c.1354C>A (p.Arg452Ser)
c.1141C>A (p.Arg381Ser)
c.1318C>A (p.Arg440Ser)
c.*657C>A (n.*657C>A)
c.1258C>A (p.Arg420Ser)
c.*790C>A (n.*790C>A)
c.1073C>A (n.1073C>A)
c.*755C>A (n.*755C>A)
c.1336C>A (p.Arg446Ser)
c.*616C>A (n.*616C>A)
c.1444C>A (p.Arg482Ser)
c.766C>A (p.Arg256Ser)
c.1351C>A (p.Arg451Ser)
c.1220C>A (n.1220C>A)
c.35-7C>A (n.35-7C>A)
c.601C>A (p.Arg201Ser)
c.1279C>A (p.Arg427Ser)
c.1402C>A (p.Arg468Ser)
c.676C>A (p.Arg226Ser)
c.1282C>A (p.Arg428Ser)
n.9G>T
n.2423+2812G>T
n.1641C>A
10g.18539257C=CA1894172740CACNB2,NSUN6c.1372C= (p.Arg458=)
c.1237C= (p.Arg413=)
c.1360C= (p.Arg454=)
c.1432C= (p.Arg478=)
c.1516C= (p.Arg506=)
c.1354C= (p.Arg452=)
c.1141C= (p.Arg381=)
c.1318C= (p.Arg440=)
c.*657C= (n.*657C=)
c.1258C= (p.Arg420=)
c.*790C= (n.*790C=)
c.1073C= (n.1073C=)
c.*755C= (n.*755C=)
c.1336C= (p.Arg446=)
c.*616C= (n.*616C=)
c.1444C= (p.Arg482=)
c.766C= (p.Arg256=)
c.1351C= (p.Arg451=)
c.1220C= (n.1220C=)
c.35-7C= (n.35-7C=)
c.601C= (p.Arg201=)
c.1279C= (p.Arg427=)
c.1402C= (p.Arg468=)
c.676C= (p.Arg226=)
c.1282C= (p.Arg428=)
n.9G=
n.2423+2812G=
n.1641C=
10g.18539257C>GCA203167131CACNB2,NSUN6c.1372C>G (p.Arg458Gly)
c.1237C>G (p.Arg413Gly)
c.1360C>G (p.Arg454Gly)
c.1432C>G (p.Arg478Gly)
c.1516C>G (p.Arg506Gly)
c.1354C>G (p.Arg452Gly)
c.1141C>G (p.Arg381Gly)
c.1318C>G (p.Arg440Gly)
c.*657C>G (n.*657C>G)
c.1258C>G (p.Arg420Gly)
c.*790C>G (n.*790C>G)
c.1073C>G (n.1073C>G)
c.*755C>G (n.*755C>G)
c.1336C>G (p.Arg446Gly)
c.*616C>G (n.*616C>G)
c.1444C>G (p.Arg482Gly)
c.766C>G (p.Arg256Gly)
c.1351C>G (p.Arg451Gly)
c.1220C>G (n.1220C>G)
c.35-7C>G (n.35-7C>G)
c.601C>G (p.Arg201Gly)
c.1279C>G (p.Arg427Gly)
c.1402C>G (p.Arg468Gly)
c.676C>G (p.Arg226Gly)
c.1282C>G (p.Arg428Gly)
n.9G>C
n.2423+2812G>C
n.1641C>G
 dbSNP gnomAD v3 gnomAD v4
10g.18539257C>TCA5430082CACNB2,NSUN6c.1372C>T (p.Arg458Cys)
c.1237C>T (p.Arg413Cys)
c.1360C>T (p.Arg454Cys)
c.1432C>T (p.Arg478Cys)
c.1516C>T (p.Arg506Cys)
c.1354C>T (p.Arg452Cys)
c.1141C>T (p.Arg381Cys)
c.1318C>T (p.Arg440Cys)
c.*657C>T (n.*657C>T)
c.1258C>T (p.Arg420Cys)
c.*790C>T (n.*790C>T)
c.1073C>T (n.1073C>T)
c.*755C>T (n.*755C>T)
c.1336C>T (p.Arg446Cys)
c.*616C>T (n.*616C>T)
c.1444C>T (p.Arg482Cys)
c.766C>T (p.Arg256Cys)
c.1351C>T (p.Arg451Cys)
c.1220C>T (n.1220C>T)
c.35-7C>T (n.35-7C>T)
c.601C>T (p.Arg201Cys)
c.1279C>T (p.Arg427Cys)
c.1402C>T (p.Arg468Cys)
c.676C>T (p.Arg226Cys)
c.1282C>T (p.Arg428Cys)
n.9G>A
n.2423+2812G>A
n.1641C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539258G>ACA5430083CACNB2,NSUN6c.1373G>A (p.Arg458His)
c.1238G>A (p.Arg413His)
c.1361G>A (p.Arg454His)
c.1433G>A (p.Arg478His)
c.1517G>A (p.Arg506His)
c.1355G>A (p.Arg452His)
c.1142G>A (p.Arg381His)
c.1319G>A (p.Arg440His)
c.*658G>A (n.*658G>A)
c.1259G>A (p.Arg420His)
c.*791G>A (n.*791G>A)
c.1074G>A (n.1074G>A)
c.*756G>A (n.*756G>A)
c.1337G>A (p.Arg446His)
c.*617G>A (n.*617G>A)
c.1445G>A (p.Arg482His)
c.767G>A (p.Arg256His)
c.1352G>A (p.Arg451His)
c.1221G>A (n.1221G>A)
c.35-6G>A (n.35-6G>A)
c.602G>A (p.Arg201His)
c.1280G>A (p.Arg427His)
c.1403G>A (p.Arg468His)
c.677G>A (p.Arg226His)
c.1283G>A (p.Arg428His)
n.8C>T
n.2423+2811C>T
n.1642G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539258G>CCA376071160CACNB2,NSUN6c.1373G>C (p.Arg458Pro)
c.1238G>C (p.Arg413Pro)
c.1361G>C (p.Arg454Pro)
c.1433G>C (p.Arg478Pro)
c.1517G>C (p.Arg506Pro)
c.1355G>C (p.Arg452Pro)
c.1142G>C (p.Arg381Pro)
c.1319G>C (p.Arg440Pro)
c.*658G>C (n.*658G>C)
c.1259G>C (p.Arg420Pro)
c.*791G>C (n.*791G>C)
c.1074G>C (n.1074G>C)
c.*756G>C (n.*756G>C)
c.1337G>C (p.Arg446Pro)
c.*617G>C (n.*617G>C)
c.1445G>C (p.Arg482Pro)
c.767G>C (p.Arg256Pro)
c.1352G>C (p.Arg451Pro)
c.1221G>C (n.1221G>C)
c.35-6G>C (n.35-6G>C)
c.602G>C (p.Arg201Pro)
c.1280G>C (p.Arg427Pro)
c.1403G>C (p.Arg468Pro)
c.677G>C (p.Arg226Pro)
c.1283G>C (p.Arg428Pro)
n.8C>G
n.2423+2811C>G
n.1642G>C
10g.18539258G=CA1894172752CACNB2,NSUN6c.1373G= (p.Arg458=)
c.1238G= (p.Arg413=)
c.1361G= (p.Arg454=)
c.1433G= (p.Arg478=)
c.1517G= (p.Arg506=)
c.1355G= (p.Arg452=)
c.1142G= (p.Arg381=)
c.1319G= (p.Arg440=)
c.*658G= (n.*658G=)
c.1259G= (p.Arg420=)
c.*791G= (n.*791G=)
c.1074G= (n.1074G=)
c.*756G= (n.*756G=)
c.1337G= (p.Arg446=)
c.*617G= (n.*617G=)
c.1445G= (p.Arg482=)
c.767G= (p.Arg256=)
c.1352G= (p.Arg451=)
c.1221G= (n.1221G=)
c.35-6G= (n.35-6G=)
c.602G= (p.Arg201=)
c.1280G= (p.Arg427=)
c.1403G= (p.Arg468=)
c.677G= (p.Arg226=)
c.1283G= (p.Arg428=)
n.8C=
n.2423+2811C=
n.1642G=
10g.18539258G>TCA376071162CACNB2,NSUN6c.1373G>T (p.Arg458Leu)
c.1238G>T (p.Arg413Leu)
c.1361G>T (p.Arg454Leu)
c.1433G>T (p.Arg478Leu)
c.1517G>T (p.Arg506Leu)
c.1355G>T (p.Arg452Leu)
c.1142G>T (p.Arg381Leu)
c.1319G>T (p.Arg440Leu)
c.*658G>T (n.*658G>T)
c.1259G>T (p.Arg420Leu)
c.*791G>T (n.*791G>T)
c.1074G>T (n.1074G>T)
c.*756G>T (n.*756G>T)
c.1337G>T (p.Arg446Leu)
c.*617G>T (n.*617G>T)
c.1445G>T (p.Arg482Leu)
c.767G>T (p.Arg256Leu)
c.1352G>T (p.Arg451Leu)
c.1221G>T (n.1221G>T)
c.35-6G>T (n.35-6G>T)
c.602G>T (p.Arg201Leu)
c.1280G>T (p.Arg427Leu)
c.1403G>T (p.Arg468Leu)
c.677G>T (p.Arg226Leu)
c.1283G>T (p.Arg428Leu)
n.8C>A
n.2423+2811C>A
n.1642G>T
10g.18539258_18539259delinsATCA2573145009CACNB2,NSUN6c.1373_1374delinsAT (p.Arg458His)
c.1238_1239delinsAT (p.Arg413His)
c.1361_1362delinsAT (p.Arg454His)
c.1433_1434delinsAT (p.Arg478His)
c.1517_1518delinsAT (p.Arg506His)
c.1355_1356delinsAT (p.Arg452His)
c.1142_1143delinsAT (p.Arg381His)
c.1319_1320delinsAT (p.Arg440His)
c.*658_*659delinsAT (n.*658_*659delinsAT)
c.1259_1260delinsAT (p.Arg420His)
c.*791_*792delinsAT (n.*791_*792delinsAT)
c.1074_1075delinsAT (n.1074_1075delinsAT)
c.*756_*757delinsAT (n.*756_*757delinsAT)
c.1337_1338delinsAT (p.Arg446His)
c.*617_*618delinsAT (n.*617_*618delinsAT)
c.1445_1446delinsAT (p.Arg482His)
c.767_768delinsAT (p.Arg256His)
c.1352_1353delinsAT (p.Arg451His)
c.1221_1222delinsAT (n.1221_1222delinsAT)
c.35-6_35-5delinsAT (n.35-6_35-5delinsAT)
c.602_603delinsAT (p.Arg201His)
c.1280_1281delinsAT (p.Arg427His)
c.1403_1404delinsAT (p.Arg468His)
c.677_678delinsAT (p.Arg226His)
c.1283_1284delinsAT (p.Arg428His)
n.7_8delinsAT
n.2423+2810_2423+2811delinsAT
n.1642_1643delinsAT
 ClinVar dbSNP
10g.18539259C>ACA468440503CACNB2,NSUN6c.1374C>A (p.Arg458=)
c.1239C>A (p.Arg413=)
c.1362C>A (p.Arg454=)
c.1434C>A (p.Arg478=)
c.1518C>A (p.Arg506=)
c.1356C>A (p.Arg452=)
c.1143C>A (p.Arg381=)
c.1320C>A (p.Arg440=)
c.*659C>A (n.*659C>A)
c.1260C>A (p.Arg420=)
c.*792C>A (n.*792C>A)
c.1075C>A (n.1075C>A)
c.*757C>A (n.*757C>A)
c.1338C>A (p.Arg446=)
c.*618C>A (n.*618C>A)
c.1446C>A (p.Arg482=)
c.768C>A (p.Arg256=)
c.1353C>A (p.Arg451=)
c.1222C>A (n.1222C>A)
c.35-5C>A (n.35-5C>A)
c.603C>A (p.Arg201=)
c.1281C>A (p.Arg427=)
c.1404C>A (p.Arg468=)
c.678C>A (p.Arg226=)
c.1284C>A (p.Arg428=)
n.7G>T
n.2423+2810G>T
n.1643C>A
10g.18539259C=CA1894172761CACNB2,NSUN6c.1374C= (p.Arg458=)
c.1239C= (p.Arg413=)
c.1362C= (p.Arg454=)
c.1434C= (p.Arg478=)
c.1518C= (p.Arg506=)
c.1356C= (p.Arg452=)
c.1143C= (p.Arg381=)
c.1320C= (p.Arg440=)
c.*659C= (n.*659C=)
c.1260C= (p.Arg420=)
c.*792C= (n.*792C=)
c.1075C= (n.1075C=)
c.*757C= (n.*757C=)
c.1338C= (p.Arg446=)
c.*618C= (n.*618C=)
c.1446C= (p.Arg482=)
c.768C= (p.Arg256=)
c.1353C= (p.Arg451=)
c.1222C= (n.1222C=)
c.35-5C= (n.35-5C=)
c.603C= (p.Arg201=)
c.1281C= (p.Arg427=)
c.1404C= (p.Arg468=)
c.678C= (p.Arg226=)
c.1284C= (p.Arg428=)
n.7G=
n.2423+2810G=
n.1643C=
10g.18539259C>GCA468440504CACNB2,NSUN6c.1374C>G (p.Arg458=)
c.1239C>G (p.Arg413=)
c.1362C>G (p.Arg454=)
c.1434C>G (p.Arg478=)
c.1518C>G (p.Arg506=)
c.1356C>G (p.Arg452=)
c.1143C>G (p.Arg381=)
c.1320C>G (p.Arg440=)
c.*659C>G (n.*659C>G)
c.1260C>G (p.Arg420=)
c.*792C>G (n.*792C>G)
c.1075C>G (n.1075C>G)
c.*757C>G (n.*757C>G)
c.1338C>G (p.Arg446=)
c.*618C>G (n.*618C>G)
c.1446C>G (p.Arg482=)
c.768C>G (p.Arg256=)
c.1353C>G (p.Arg451=)
c.1222C>G (n.1222C>G)
c.35-5C>G (n.35-5C>G)
c.603C>G (p.Arg201=)
c.1281C>G (p.Arg427=)
c.1404C>G (p.Arg468=)
c.678C>G (p.Arg226=)
c.1284C>G (p.Arg428=)
n.7G>C
n.2423+2810G>C
n.1643C>G
10g.18539259C>TCA289938CACNB2,NSUN6c.1374C>T (p.Arg458=)
c.1239C>T (p.Arg413=)
c.1362C>T (p.Arg454=)
c.1434C>T (p.Arg478=)
c.1518C>T (p.Arg506=)
c.1356C>T (p.Arg452=)
c.1143C>T (p.Arg381=)
c.1320C>T (p.Arg440=)
c.*659C>T (n.*659C>T)
c.1260C>T (p.Arg420=)
c.*792C>T (n.*792C>T)
c.1075C>T (n.1075C>T)
c.*757C>T (n.*757C>T)
c.1338C>T (p.Arg446=)
c.*618C>T (n.*618C>T)
c.1446C>T (p.Arg482=)
c.768C>T (p.Arg256=)
c.1353C>T (p.Arg451=)
c.1222C>T (n.1222C>T)
c.35-5C>T (n.35-5C>T)
c.603C>T (p.Arg201=)
c.1281C>T (p.Arg427=)
c.1404C>T (p.Arg468=)
c.678C>T (p.Arg226=)
c.1284C>T (p.Arg428=)
n.7G>A
n.2423+2810G>A
n.1643C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539260T>ACA376071165CACNB2,NSUN6c.1375T>A (p.Ser459Thr)
c.1240T>A (p.Ser414Thr)
c.1363T>A (p.Ser455Thr)
c.1435T>A (p.Ser479Thr)
c.1519T>A (p.Ser507Thr)
c.1357T>A (p.Ser453Thr)
c.1144T>A (p.Ser382Thr)
c.1321T>A (p.Ser441Thr)
c.*660T>A (n.*660T>A)
c.1261T>A (p.Ser421Thr)
c.*793T>A (n.*793T>A)
c.1076T>A (n.1076T>A)
c.*758T>A (n.*758T>A)
c.1339T>A (p.Ser447Thr)
c.*619T>A (n.*619T>A)
c.1447T>A (p.Ser483Thr)
c.769T>A (p.Ser257Thr)
c.1354T>A (p.Ser452Thr)
c.1223T>A (n.1223T>A)
c.35-4T>A (n.35-4T>A)
c.604T>A (p.Ser202Thr)
c.1282T>A (p.Ser428Thr)
c.1405T>A (p.Ser469Thr)
c.679T>A (p.Ser227Thr)
c.1285T>A (p.Ser429Thr)
n.6A>T
n.2423+2809A>T
n.1644T>A
10g.18539260T>CCA376071166CACNB2,NSUN6c.1375T>C (p.Ser459Pro)
c.1240T>C (p.Ser414Pro)
c.1363T>C (p.Ser455Pro)
c.1435T>C (p.Ser479Pro)
c.1519T>C (p.Ser507Pro)
c.1357T>C (p.Ser453Pro)
c.1144T>C (p.Ser382Pro)
c.1321T>C (p.Ser441Pro)
c.*660T>C (n.*660T>C)
c.1261T>C (p.Ser421Pro)
c.*793T>C (n.*793T>C)
c.1076T>C (n.1076T>C)
c.*758T>C (n.*758T>C)
c.1339T>C (p.Ser447Pro)
c.*619T>C (n.*619T>C)
c.1447T>C (p.Ser483Pro)
c.769T>C (p.Ser257Pro)
c.1354T>C (p.Ser452Pro)
c.1223T>C (n.1223T>C)
c.35-4T>C (n.35-4T>C)
c.604T>C (p.Ser202Pro)
c.1282T>C (p.Ser428Pro)
c.1405T>C (p.Ser469Pro)
c.679T>C (p.Ser227Pro)
c.1285T>C (p.Ser429Pro)
n.6A>G
n.2423+2809A>G
n.1644T>C
 ClinVar
10g.18539260T>GCA376071168CACNB2,NSUN6c.1375T>G (p.Ser459Ala)
c.1240T>G (p.Ser414Ala)
c.1363T>G (p.Ser455Ala)
c.1435T>G (p.Ser479Ala)
c.1519T>G (p.Ser507Ala)
c.1357T>G (p.Ser453Ala)
c.1144T>G (p.Ser382Ala)
c.1321T>G (p.Ser441Ala)
c.*660T>G (n.*660T>G)
c.1261T>G (p.Ser421Ala)
c.*793T>G (n.*793T>G)
c.1076T>G (n.1076T>G)
c.*758T>G (n.*758T>G)
c.1339T>G (p.Ser447Ala)
c.*619T>G (n.*619T>G)
c.1447T>G (p.Ser483Ala)
c.769T>G (p.Ser257Ala)
c.1354T>G (p.Ser452Ala)
c.1223T>G (n.1223T>G)
c.35-4T>G (n.35-4T>G)
c.604T>G (p.Ser202Ala)
c.1282T>G (p.Ser428Ala)
c.1405T>G (p.Ser469Ala)
c.679T>G (p.Ser227Ala)
c.1285T>G (p.Ser429Ala)
n.6A>C
n.2423+2809A>C
n.1644T>G
10g.18539261C>ACA376071170CACNB2,NSUN6c.1376C>A (p.Ser459Tyr)
c.1241C>A (p.Ser414Tyr)
c.1364C>A (p.Ser455Tyr)
c.1436C>A (p.Ser479Tyr)
c.1520C>A (p.Ser507Tyr)
c.1358C>A (p.Ser453Tyr)
c.1145C>A (p.Ser382Tyr)
c.1322C>A (p.Ser441Tyr)
c.*661C>A (n.*661C>A)
c.1262C>A (p.Ser421Tyr)
c.*794C>A (n.*794C>A)
c.1077C>A (n.1077C>A)
c.*759C>A (n.*759C>A)
c.1340C>A (p.Ser447Tyr)
c.*620C>A (n.*620C>A)
c.1448C>A (p.Ser483Tyr)
c.770C>A (p.Ser257Tyr)
c.1355C>A (p.Ser452Tyr)
c.1224C>A (n.1224C>A)
c.35-3C>A (n.35-3C>A)
c.605C>A (p.Ser202Tyr)
c.1283C>A (p.Ser428Tyr)
c.1406C>A (p.Ser469Tyr)
c.680C>A (p.Ser227Tyr)
c.1286C>A (p.Ser429Tyr)
n.5G>T
n.2423+2808G>T
n.1645C>A
 dbSNP gnomAD v2 gnomAD v4
10g.18539261C=CA1894172768CACNB2,NSUN6c.1376C= (p.Ser459=)
c.1241C= (p.Ser414=)
c.1364C= (p.Ser455=)
c.1436C= (p.Ser479=)
c.1520C= (p.Ser507=)
c.1358C= (p.Ser453=)
c.1145C= (p.Ser382=)
c.1322C= (p.Ser441=)
c.*661C= (n.*661C=)
c.1262C= (p.Ser421=)
c.*794C= (n.*794C=)
c.1077C= (n.1077C=)
c.*759C= (n.*759C=)
c.1340C= (p.Ser447=)
c.*620C= (n.*620C=)
c.1448C= (p.Ser483=)
c.770C= (p.Ser257=)
c.1355C= (p.Ser452=)
c.1224C= (n.1224C=)
c.35-3C= (n.35-3C=)
c.605C= (p.Ser202=)
c.1283C= (p.Ser428=)
c.1406C= (p.Ser469=)
c.680C= (p.Ser227=)
c.1286C= (p.Ser429=)
n.5G=
n.2423+2808G=
n.1645C=
10g.18539261C>GCA376071171CACNB2,NSUN6c.1376C>G (p.Ser459Cys)
c.1241C>G (p.Ser414Cys)
c.1364C>G (p.Ser455Cys)
c.1436C>G (p.Ser479Cys)
c.1520C>G (p.Ser507Cys)
c.1358C>G (p.Ser453Cys)
c.1145C>G (p.Ser382Cys)
c.1322C>G (p.Ser441Cys)
c.*661C>G (n.*661C>G)
c.1262C>G (p.Ser421Cys)
c.*794C>G (n.*794C>G)
c.1077C>G (n.1077C>G)
c.*759C>G (n.*759C>G)
c.1340C>G (p.Ser447Cys)
c.*620C>G (n.*620C>G)
c.1448C>G (p.Ser483Cys)
c.770C>G (p.Ser257Cys)
c.1355C>G (p.Ser452Cys)
c.1224C>G (n.1224C>G)
c.35-3C>G (n.35-3C>G)
c.605C>G (p.Ser202Cys)
c.1283C>G (p.Ser428Cys)
c.1406C>G (p.Ser469Cys)
c.680C>G (p.Ser227Cys)
c.1286C>G (p.Ser429Cys)
n.5G>C
n.2423+2808G>C
n.1645C>G
 dbSNP gnomAD v2 gnomAD v4
10g.18539261C>TCA376071173CACNB2,NSUN6c.1376C>T (p.Ser459Phe)
c.1241C>T (p.Ser414Phe)
c.1364C>T (p.Ser455Phe)
c.1436C>T (p.Ser479Phe)
c.1520C>T (p.Ser507Phe)
c.1358C>T (p.Ser453Phe)
c.1145C>T (p.Ser382Phe)
c.1322C>T (p.Ser441Phe)
c.*661C>T (n.*661C>T)
c.1262C>T (p.Ser421Phe)
c.*794C>T (n.*794C>T)
c.1077C>T (n.1077C>T)
c.*759C>T (n.*759C>T)
c.1340C>T (p.Ser447Phe)
c.*620C>T (n.*620C>T)
c.1448C>T (p.Ser483Phe)
c.770C>T (p.Ser257Phe)
c.1355C>T (p.Ser452Phe)
c.1224C>T (n.1224C>T)
c.35-3C>T (n.35-3C>T)
c.605C>T (p.Ser202Phe)
c.1283C>T (p.Ser428Phe)
c.1406C>T (p.Ser469Phe)
c.680C>T (p.Ser227Phe)
c.1286C>T (p.Ser429Phe)
n.5G>A
n.2423+2808G>A
n.1645C>T
 gnomAD v4
10g.18539262C>ACA5430085CACNB2,NSUN6c.1377C>A (p.Ser459=)
c.1242C>A (p.Ser414=)
c.1365C>A (p.Ser455=)
c.1437C>A (p.Ser479=)
c.1521C>A (p.Ser507=)
c.1359C>A (p.Ser453=)
c.1146C>A (p.Ser382=)
c.1323C>A (p.Ser441=)
c.*662C>A (n.*662C>A)
c.1263C>A (p.Ser421=)
c.*795C>A (n.*795C>A)
c.1078C>A (n.1078C>A)
c.*760C>A (n.*760C>A)
c.1341C>A (p.Ser447=)
c.*621C>A (n.*621C>A)
c.1449C>A (p.Ser483=)
c.771C>A (p.Ser257=)
c.1356C>A (p.Ser452=)
c.1225C>A (n.1225C>A)
c.35-2C>A (n.35-2C>A)
c.606C>A (p.Ser202=)
c.1284C>A (p.Ser428=)
c.1407C>A (p.Ser469=)
c.681C>A (p.Ser227=)
c.1287C>A (p.Ser429=)
n.4G>T
n.2423+2807G>T
n.1646C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539262C=CA1894172773CACNB2,NSUN6c.1377C= (p.Ser459=)
c.1242C= (p.Ser414=)
c.1365C= (p.Ser455=)
c.1437C= (p.Ser479=)
c.1521C= (p.Ser507=)
c.1359C= (p.Ser453=)
c.1146C= (p.Ser382=)
c.1323C= (p.Ser441=)
c.*662C= (n.*662C=)
c.1263C= (p.Ser421=)
c.*795C= (n.*795C=)
c.1078C= (n.1078C=)
c.*760C= (n.*760C=)
c.1341C= (p.Ser447=)
c.*621C= (n.*621C=)
c.1449C= (p.Ser483=)
c.771C= (p.Ser257=)
c.1356C= (p.Ser452=)
c.1225C= (n.1225C=)
c.35-2C= (n.35-2C=)
c.606C= (p.Ser202=)
c.1284C= (p.Ser428=)
c.1407C= (p.Ser469=)
c.681C= (p.Ser227=)
c.1287C= (p.Ser429=)
n.4G=
n.2423+2807G=
n.1646C=
10g.18539262C>GCA376071175CACNB2,NSUN6c.1377C>G (p.Ser459=)
c.1242C>G (p.Ser414=)
c.1365C>G (p.Ser455=)
c.1437C>G (p.Ser479=)
c.1521C>G (p.Ser507=)
c.1359C>G (p.Ser453=)
c.1146C>G (p.Ser382=)
c.1323C>G (p.Ser441=)
c.*662C>G (n.*662C>G)
c.1263C>G (p.Ser421=)
c.*795C>G (n.*795C>G)
c.1078C>G (n.1078C>G)
c.*760C>G (n.*760C>G)
c.1341C>G (p.Ser447=)
c.*621C>G (n.*621C>G)
c.1449C>G (p.Ser483=)
c.771C>G (p.Ser257=)
c.1356C>G (p.Ser452=)
c.1225C>G (n.1225C>G)
c.35-2C>G (n.35-2C>G)
c.606C>G (p.Ser202=)
c.1284C>G (p.Ser428=)
c.1407C>G (p.Ser469=)
c.681C>G (p.Ser227=)
c.1287C>G (p.Ser429=)
n.4G>C
n.2423+2807G>C
n.1646C>G
10g.18539262C>TCA5430084CACNB2,NSUN6c.1377C>T (p.Ser459=)
c.1242C>T (p.Ser414=)
c.1365C>T (p.Ser455=)
c.1437C>T (p.Ser479=)
c.1521C>T (p.Ser507=)
c.1359C>T (p.Ser453=)
c.1146C>T (p.Ser382=)
c.1323C>T (p.Ser441=)
c.*662C>T (n.*662C>T)
c.1263C>T (p.Ser421=)
c.*795C>T (n.*795C>T)
c.1078C>T (n.1078C>T)
c.*760C>T (n.*760C>T)
c.1341C>T (p.Ser447=)
c.*621C>T (n.*621C>T)
c.1449C>T (p.Ser483=)
c.771C>T (p.Ser257=)
c.1356C>T (p.Ser452=)
c.1225C>T (n.1225C>T)
c.35-2C>T (n.35-2C>T)
c.606C>T (p.Ser202=)
c.1284C>T (p.Ser428=)
c.1407C>T (p.Ser469=)
c.681C>T (p.Ser227=)
c.1287C>T (p.Ser429=)
n.4G>A
n.2423+2807G>A
n.1646C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539263G>ACA301850CACNB2,NSUN6c.1378G>A (p.Ala460Thr)
c.1243G>A (p.Ala415Thr)
c.1366G>A (p.Ala456Thr)
c.1438G>A (p.Ala480Thr)
c.1522G>A (p.Ala508Thr)
c.1360G>A (p.Ala454Thr)
c.1147G>A (p.Ala383Thr)
c.1324G>A (p.Ala442Thr)
c.*663G>A (n.*663G>A)
c.1264G>A (p.Ala422Thr)
c.*796G>A (n.*796G>A)
c.1079G>A (n.1079G>A)
c.*761G>A (n.*761G>A)
c.1342G>A (p.Ala448Thr)
c.*622G>A (n.*622G>A)
c.1450G>A (p.Ala484Thr)
c.772G>A (p.Ala258Thr)
c.1357G>A (p.Ala453Thr)
c.1226G>A (n.1226G>A)
c.35-1G>A (n.35-1G>A)
c.607G>A (p.Ala203Thr)
c.1285G>A (p.Ala429Thr)
c.1408G>A (p.Ala470Thr)
c.682G>A (p.Ala228Thr)
c.1288G>A (p.Ala430Thr)
n.3C>T
n.2423+2806C>T
n.1647G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
10g.18539263G>CCA376071179CACNB2,NSUN6c.1378G>C (p.Ala460Pro)
c.1243G>C (p.Ala415Pro)
c.1366G>C (p.Ala456Pro)
c.1438G>C (p.Ala480Pro)
c.1522G>C (p.Ala508Pro)
c.1360G>C (p.Ala454Pro)
c.1147G>C (p.Ala383Pro)
c.1324G>C (p.Ala442Pro)
c.*663G>C (n.*663G>C)
c.1264G>C (p.Ala422Pro)
c.*796G>C (n.*796G>C)
c.1079G>C (n.1079G>C)
c.*761G>C (n.*761G>C)
c.1342G>C (p.Ala448Pro)
c.*622G>C (n.*622G>C)
c.1450G>C (p.Ala484Pro)
c.772G>C (p.Ala258Pro)
c.1357G>C (p.Ala453Pro)
c.1226G>C (n.1226G>C)
c.35-1G>C (n.35-1G>C)
c.607G>C (p.Ala203Pro)
c.1285G>C (p.Ala429Pro)
c.1408G>C (p.Ala470Pro)
c.682G>C (p.Ala228Pro)
c.1288G>C (p.Ala430Pro)
n.3C>G
n.2423+2806C>G
n.1647G>C
10g.18539263G=CA1894172783CACNB2,NSUN6c.1378G= (p.Ala460=)
c.1243G= (p.Ala415=)
c.1366G= (p.Ala456=)
c.1438G= (p.Ala480=)
c.1522G= (p.Ala508=)
c.1360G= (p.Ala454=)
c.1147G= (p.Ala383=)
c.1324G= (p.Ala442=)
c.*663G= (n.*663G=)
c.1264G= (p.Ala422=)
c.*796G= (n.*796G=)
c.1079G= (n.1079G=)
c.*761G= (n.*761G=)
c.1342G= (p.Ala448=)
c.*622G= (n.*622G=)
c.1450G= (p.Ala484=)
c.772G= (p.Ala258=)
c.1357G= (p.Ala453=)
c.1226G= (n.1226G=)
c.35-1G= (n.35-1G=)
c.607G= (p.Ala203=)
c.1285G= (p.Ala429=)
c.1408G= (p.Ala470=)
c.682G= (p.Ala228=)
c.1288G= (p.Ala430=)
n.3C=
n.2423+2806C=
n.1647G=
10g.18539263G>TCA5430086CACNB2,NSUN6c.1378G>T (p.Ala460Ser)
c.1243G>T (p.Ala415Ser)
c.1366G>T (p.Ala456Ser)
c.1438G>T (p.Ala480Ser)
c.1522G>T (p.Ala508Ser)
c.1360G>T (p.Ala454Ser)
c.1147G>T (p.Ala383Ser)
c.1324G>T (p.Ala442Ser)
c.*663G>T (n.*663G>T)
c.1264G>T (p.Ala422Ser)
c.*796G>T (n.*796G>T)
c.1079G>T (n.1079G>T)
c.*761G>T (n.*761G>T)
c.1342G>T (p.Ala448Ser)
c.*622G>T (n.*622G>T)
c.1450G>T (p.Ala484Ser)
c.772G>T (p.Ala258Ser)
c.1357G>T (p.Ala453Ser)
c.1226G>T (n.1226G>T)
c.35-1G>T (n.35-1G>T)
c.607G>T (p.Ala203Ser)
c.1285G>T (p.Ala429Ser)
c.1408G>T (p.Ala470Ser)
c.682G>T (p.Ala228Ser)
c.1288G>T (p.Ala430Ser)
n.3C>A
n.2423+2806C>A
n.1647G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539264C>ACA376071181CACNB2,NSUN6c.1379C>A (p.Ala460Asp)
c.1244C>A (p.Ala415Asp)
c.1367C>A (p.Ala456Asp)
c.1439C>A (p.Ala480Asp)
c.1523C>A (p.Ala508Asp)
c.1361C>A (p.Ala454Asp)
c.1148C>A (p.Ala383Asp)
c.1325C>A (p.Ala442Asp)
c.*664C>A (n.*664C>A)
c.1265C>A (p.Ala422Asp)
c.*797C>A (n.*797C>A)
c.1080C>A (n.1080C>A)
c.*762C>A (n.*762C>A)
c.1343C>A (p.Ala448Asp)
c.*623C>A (n.*623C>A)
c.1451C>A (p.Ala484Asp)
c.773C>A (p.Ala258Asp)
c.1358C>A (p.Ala453Asp)
c.1227C>A (n.1227C>A)
c.35C>A (p.Ala12Asp)
c.608C>A (p.Ala203Asp)
c.1286C>A (p.Ala429Asp)
c.1409C>A (p.Ala470Asp)
c.683C>A (p.Ala228Asp)
c.1289C>A (p.Ala430Asp)
n.2G>T
n.2423+2805G>T
n.1648C>A
10g.18539264C=CA1894172796CACNB2,NSUN6c.1379C= (p.Ala460=)
c.1244C= (p.Ala415=)
c.1367C= (p.Ala456=)
c.1439C= (p.Ala480=)
c.1523C= (p.Ala508=)
c.1361C= (p.Ala454=)
c.1148C= (p.Ala383=)
c.1325C= (p.Ala442=)
c.*664C= (n.*664C=)
c.1265C= (p.Ala422=)
c.*797C= (n.*797C=)
c.1080C= (n.1080C=)
c.*762C= (n.*762C=)
c.1343C= (p.Ala448=)
c.*623C= (n.*623C=)
c.1451C= (p.Ala484=)
c.773C= (p.Ala258=)
c.1358C= (p.Ala453=)
c.1227C= (n.1227C=)
c.35C= (p.Ala12=)
c.608C= (p.Ala203=)
c.1286C= (p.Ala429=)
c.1409C= (p.Ala470=)
c.683C= (p.Ala228=)
c.1289C= (p.Ala430=)
n.2G=
n.2423+2805G=
n.1648C=
10g.18539264C>GCA376071183CACNB2,NSUN6c.1379C>G (p.Ala460Gly)
c.1244C>G (p.Ala415Gly)
c.1367C>G (p.Ala456Gly)
c.1439C>G (p.Ala480Gly)
c.1523C>G (p.Ala508Gly)
c.1361C>G (p.Ala454Gly)
c.1148C>G (p.Ala383Gly)
c.1325C>G (p.Ala442Gly)
c.*664C>G (n.*664C>G)
c.1265C>G (p.Ala422Gly)
c.*797C>G (n.*797C>G)
c.1080C>G (n.1080C>G)
c.*762C>G (n.*762C>G)
c.1343C>G (p.Ala448Gly)
c.*623C>G (n.*623C>G)
c.1451C>G (p.Ala484Gly)
c.773C>G (p.Ala258Gly)
c.1358C>G (p.Ala453Gly)
c.1227C>G (n.1227C>G)
c.35C>G (p.Ala12Gly)
c.608C>G (p.Ala203Gly)
c.1286C>G (p.Ala429Gly)
c.1409C>G (p.Ala470Gly)
c.683C>G (p.Ala228Gly)
c.1289C>G (p.Ala430Gly)
n.2G>C
n.2423+2805G>C
n.1648C>G
 dbSNP gnomAD v3 gnomAD v4
10g.18539264C>TCA376071185CACNB2,NSUN6c.1379C>T (p.Ala460Val)
c.1244C>T (p.Ala415Val)
c.1367C>T (p.Ala456Val)
c.1439C>T (p.Ala480Val)
c.1523C>T (p.Ala508Val)
c.1361C>T (p.Ala454Val)
c.1148C>T (p.Ala383Val)
c.1325C>T (p.Ala442Val)
c.*664C>T (n.*664C>T)
c.1265C>T (p.Ala422Val)
c.*797C>T (n.*797C>T)
c.1080C>T (n.1080C>T)
c.*762C>T (n.*762C>T)
c.1343C>T (p.Ala448Val)
c.*623C>T (n.*623C>T)
c.1451C>T (p.Ala484Val)
c.773C>T (p.Ala258Val)
c.1358C>T (p.Ala453Val)
c.1227C>T (n.1227C>T)
c.35C>T (p.Ala12Val)
c.608C>T (p.Ala203Val)
c.1286C>T (p.Ala429Val)
c.1409C>T (p.Ala470Val)
c.683C>T (p.Ala228Val)
c.1289C>T (p.Ala430Val)
n.2G>A
n.2423+2805G>A
n.1648C>T
10g.18539265T>ACA5430087CACNB2,NSUN6c.1380T>A (p.Ala460=)
c.1245T>A (p.Ala415=)
c.1368T>A (p.Ala456=)
c.1440T>A (p.Ala480=)
c.1524T>A (p.Ala508=)
c.1362T>A (p.Ala454=)
c.1149T>A (p.Ala383=)
c.1326T>A (p.Ala442=)
c.*665T>A (n.*665T>A)
c.1266T>A (p.Ala422=)
c.*798T>A (n.*798T>A)
c.1081T>A (n.1081T>A)
c.*763T>A (n.*763T>A)
c.1344T>A (p.Ala448=)
c.*624T>A (n.*624T>A)
c.1452T>A (p.Ala484=)
c.774T>A (p.Ala258=)
c.1359T>A (p.Ala453=)
c.1228T>A (n.1228T>A)
c.36T>A (p.Ala12=)
c.609T>A (p.Ala203=)
c.1287T>A (p.Ala429=)
c.1410T>A (p.Ala470=)
c.684T>A (p.Ala228=)
c.1290T>A (p.Ala430=)
n.1A>T
n.2423+2804A>T
n.1649T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539265T>CCA468440505CACNB2,NSUN6c.1380T>C (p.Ala460=)
c.1245T>C (p.Ala415=)
c.1368T>C (p.Ala456=)
c.1440T>C (p.Ala480=)
c.1524T>C (p.Ala508=)
c.1362T>C (p.Ala454=)
c.1149T>C (p.Ala383=)
c.1326T>C (p.Ala442=)
c.*665T>C (n.*665T>C)
c.1266T>C (p.Ala422=)
c.*798T>C (n.*798T>C)
c.1081T>C (n.1081T>C)
c.*763T>C (n.*763T>C)
c.1344T>C (p.Ala448=)
c.*624T>C (n.*624T>C)
c.1452T>C (p.Ala484=)
c.774T>C (p.Ala258=)
c.1359T>C (p.Ala453=)
c.1228T>C (n.1228T>C)
c.36T>C (p.Ala12=)
c.609T>C (p.Ala203=)
c.1287T>C (p.Ala429=)
c.1410T>C (p.Ala470=)
c.684T>C (p.Ala228=)
c.1290T>C (p.Ala430=)
n.1A>G
n.2423+2804A>G
n.1649T>C
 dbSNP gnomAD v3 gnomAD v4
10g.18539265T>GCA468440506CACNB2,NSUN6c.1380T>G (p.Ala460=)
c.1245T>G (p.Ala415=)
c.1368T>G (p.Ala456=)
c.1440T>G (p.Ala480=)
c.1524T>G (p.Ala508=)
c.1362T>G (p.Ala454=)
c.1149T>G (p.Ala383=)
c.1326T>G (p.Ala442=)
c.*665T>G (n.*665T>G)
c.1266T>G (p.Ala422=)
c.*798T>G (n.*798T>G)
c.1081T>G (n.1081T>G)
c.*763T>G (n.*763T>G)
c.1344T>G (p.Ala448=)
c.*624T>G (n.*624T>G)
c.1452T>G (p.Ala484=)
c.774T>G (p.Ala258=)
c.1359T>G (p.Ala453=)
c.1228T>G (n.1228T>G)
c.36T>G (p.Ala12=)
c.609T>G (p.Ala203=)
c.1287T>G (p.Ala429=)
c.1410T>G (p.Ala470=)
c.684T>G (p.Ala228=)
c.1290T>G (p.Ala430=)
n.1A>C
n.2423+2804A>C
n.1649T>G
10g.18539265T=CA1894172801CACNB2,NSUN6c.1380T= (p.Ala460=)
c.1245T= (p.Ala415=)
c.1368T= (p.Ala456=)
c.1440T= (p.Ala480=)
c.1524T= (p.Ala508=)
c.1362T= (p.Ala454=)
c.1149T= (p.Ala383=)
c.1326T= (p.Ala442=)
c.*665T= (n.*665T=)
c.1266T= (p.Ala422=)
c.*798T= (n.*798T=)
c.1081T= (n.1081T=)
c.*763T= (n.*763T=)
c.1344T= (p.Ala448=)
c.*624T= (n.*624T=)
c.1452T= (p.Ala484=)
c.774T= (p.Ala258=)
c.1359T= (p.Ala453=)
c.1228T= (n.1228T=)
c.36T= (p.Ala12=)
c.609T= (p.Ala203=)
c.1287T= (p.Ala429=)
c.1410T= (p.Ala470=)
c.684T= (p.Ala228=)
c.1290T= (p.Ala430=)
n.1A=
n.2423+2804A=
n.1649T=
10g.18539266C>ACA376071187CACNB2,NSUN6c.1381C>A (p.Pro461Thr)
c.1246C>A (p.Pro416Thr)
c.1369C>A (p.Pro457Thr)
c.1441C>A (p.Pro481Thr)
c.1525C>A (p.Pro509Thr)
c.1363C>A (p.Pro455Thr)
c.1150C>A (p.Pro384Thr)
c.1327C>A (p.Pro443Thr)
c.*666C>A (n.*666C>A)
c.1267C>A (p.Pro423Thr)
c.*799C>A (n.*799C>A)
c.1082C>A (n.1082C>A)
c.*764C>A (n.*764C>A)
c.1345C>A (p.Pro449Thr)
c.*625C>A (n.*625C>A)
c.1453C>A (p.Pro485Thr)
c.775C>A (p.Pro259Thr)
c.1360C>A (p.Pro454Thr)
c.1229C>A (n.1229C>A)
c.37C>A (p.Pro13Thr)
c.610C>A (p.Pro204Thr)
c.1288C>A (p.Pro430Thr)
c.1411C>A (p.Pro471Thr)
c.685C>A (p.Pro229Thr)
c.1291C>A (p.Pro431Thr)
n.2423+2803G>T
n.1650C>A
 ClinVar
10g.18539266C=CA1894172804CACNB2,NSUN6c.1381C= (p.Pro461=)
c.1246C= (p.Pro416=)
c.1369C= (p.Pro457=)
c.1441C= (p.Pro481=)
c.1525C= (p.Pro509=)
c.1363C= (p.Pro455=)
c.1150C= (p.Pro384=)
c.1327C= (p.Pro443=)
c.*666C= (n.*666C=)
c.1267C= (p.Pro423=)
c.*799C= (n.*799C=)
c.1082C= (n.1082C=)
c.*764C= (n.*764C=)
c.1345C= (p.Pro449=)
c.*625C= (n.*625C=)
c.1453C= (p.Pro485=)
c.775C= (p.Pro259=)
c.1360C= (p.Pro454=)
c.1229C= (n.1229C=)
c.37C= (p.Pro13=)
c.610C= (p.Pro204=)
c.1288C= (p.Pro430=)
c.1411C= (p.Pro471=)
c.685C= (p.Pro229=)
c.1291C= (p.Pro431=)
n.2423+2803G=
n.1650C=
10g.18539266C>GCA376071189CACNB2,NSUN6c.1381C>G (p.Pro461Ala)
c.1246C>G (p.Pro416Ala)
c.1369C>G (p.Pro457Ala)
c.1441C>G (p.Pro481Ala)
c.1525C>G (p.Pro509Ala)
c.1363C>G (p.Pro455Ala)
c.1150C>G (p.Pro384Ala)
c.1327C>G (p.Pro443Ala)
c.*666C>G (n.*666C>G)
c.1267C>G (p.Pro423Ala)
c.*799C>G (n.*799C>G)
c.1082C>G (n.1082C>G)
c.*764C>G (n.*764C>G)
c.1345C>G (p.Pro449Ala)
c.*625C>G (n.*625C>G)
c.1453C>G (p.Pro485Ala)
c.775C>G (p.Pro259Ala)
c.1360C>G (p.Pro454Ala)
c.1229C>G (n.1229C>G)
c.37C>G (p.Pro13Ala)
c.610C>G (p.Pro204Ala)
c.1288C>G (p.Pro430Ala)
c.1411C>G (p.Pro471Ala)
c.685C>G (p.Pro229Ala)
c.1291C>G (p.Pro431Ala)
n.2423+2803G>C
n.1650C>G
 gnomAD v4
10g.18539266C>TCA376071190CACNB2,NSUN6c.1381C>T (p.Pro461Ser)
c.1246C>T (p.Pro416Ser)
c.1369C>T (p.Pro457Ser)
c.1441C>T (p.Pro481Ser)
c.1525C>T (p.Pro509Ser)
c.1363C>T (p.Pro455Ser)
c.1150C>T (p.Pro384Ser)
c.1327C>T (p.Pro443Ser)
c.*666C>T (n.*666C>T)
c.1267C>T (p.Pro423Ser)
c.*799C>T (n.*799C>T)
c.1082C>T (n.1082C>T)
c.*764C>T (n.*764C>T)
c.1345C>T (p.Pro449Ser)
c.*625C>T (n.*625C>T)
c.1453C>T (p.Pro485Ser)
c.775C>T (p.Pro259Ser)
c.1360C>T (p.Pro454Ser)
c.1229C>T (n.1229C>T)
c.37C>T (p.Pro13Ser)
c.610C>T (p.Pro204Ser)
c.1288C>T (p.Pro430Ser)
c.1411C>T (p.Pro471Ser)
c.685C>T (p.Pro229Ser)
c.1291C>T (p.Pro431Ser)
n.2423+2803G>A
n.1650C>T
 dbSNP
10g.18539267C>ACA376071192CACNB2,NSUN6c.1382C>A (p.Pro461His)
c.1247C>A (p.Pro416His)
c.1370C>A (p.Pro457His)
c.1442C>A (p.Pro481His)
c.1526C>A (p.Pro509His)
c.1364C>A (p.Pro455His)
c.1151C>A (p.Pro384His)
c.1328C>A (p.Pro443His)
c.*667C>A (n.*667C>A)
c.1268C>A (p.Pro423His)
c.*800C>A (n.*800C>A)
c.1083C>A (n.1083C>A)
c.*765C>A (n.*765C>A)
c.1346C>A (p.Pro449His)
c.*626C>A (n.*626C>A)
c.1454C>A (p.Pro485His)
c.776C>A (p.Pro259His)
c.1361C>A (p.Pro454His)
c.1230C>A (n.1230C>A)
c.38C>A (p.Pro13His)
c.611C>A (p.Pro204His)
c.1289C>A (p.Pro430His)
c.1412C>A (p.Pro471His)
c.686C>A (p.Pro229His)
c.1292C>A (p.Pro431His)
n.2423+2802G>T
n.1651C>A
10g.18539267C>GCA376071194CACNB2,NSUN6c.1382C>G (p.Pro461Arg)
c.1247C>G (p.Pro416Arg)
c.1370C>G (p.Pro457Arg)
c.1442C>G (p.Pro481Arg)
c.1526C>G (p.Pro509Arg)
c.1364C>G (p.Pro455Arg)
c.1151C>G (p.Pro384Arg)
c.1328C>G (p.Pro443Arg)
c.*667C>G (n.*667C>G)
c.1268C>G (p.Pro423Arg)
c.*800C>G (n.*800C>G)
c.1083C>G (n.1083C>G)
c.*765C>G (n.*765C>G)
c.1346C>G (p.Pro449Arg)
c.*626C>G (n.*626C>G)
c.1454C>G (p.Pro485Arg)
c.776C>G (p.Pro259Arg)
c.1361C>G (p.Pro454Arg)
c.1230C>G (n.1230C>G)
c.38C>G (p.Pro13Arg)
c.611C>G (p.Pro204Arg)
c.1289C>G (p.Pro430Arg)
c.1412C>G (p.Pro471Arg)
c.686C>G (p.Pro229Arg)
c.1292C>G (p.Pro431Arg)
n.2423+2802G>C
n.1651C>G
 gnomAD v4
10g.18539267C>TCA376071195CACNB2,NSUN6c.1382C>T (p.Pro461Leu)
c.1247C>T (p.Pro416Leu)
c.1370C>T (p.Pro457Leu)
c.1442C>T (p.Pro481Leu)
c.1526C>T (p.Pro509Leu)
c.1364C>T (p.Pro455Leu)
c.1151C>T (p.Pro384Leu)
c.1328C>T (p.Pro443Leu)
c.*667C>T (n.*667C>T)
c.1268C>T (p.Pro423Leu)
c.*800C>T (n.*800C>T)
c.1083C>T (n.1083C>T)
c.*765C>T (n.*765C>T)
c.1346C>T (p.Pro449Leu)
c.*626C>T (n.*626C>T)
c.1454C>T (p.Pro485Leu)
c.776C>T (p.Pro259Leu)
c.1361C>T (p.Pro454Leu)
c.1230C>T (n.1230C>T)
c.38C>T (p.Pro13Leu)
c.611C>T (p.Pro204Leu)
c.1289C>T (p.Pro430Leu)
c.1412C>T (p.Pro471Leu)
c.686C>T (p.Pro229Leu)
c.1292C>T (p.Pro431Leu)
n.2423+2802G>A
n.1651C>T
 ClinVar
10g.18539268T>ACA468440510CACNB2,NSUN6c.1383T>A (p.Pro461=)
c.1248T>A (p.Pro416=)
c.1371T>A (p.Pro457=)
c.1443T>A (p.Pro481=)
c.1527T>A (p.Pro509=)
c.1365T>A (p.Pro455=)
c.1152T>A (p.Pro384=)
c.1329T>A (p.Pro443=)
c.*668T>A (n.*668T>A)
c.1269T>A (p.Pro423=)
c.*801T>A (n.*801T>A)
c.1084T>A (n.1084T>A)
c.*766T>A (n.*766T>A)
c.1347T>A (p.Pro449=)
c.*627T>A (n.*627T>A)
c.1455T>A (p.Pro485=)
c.777T>A (p.Pro259=)
c.1362T>A (p.Pro454=)
c.1231T>A (n.1231T>A)
c.39T>A (p.Pro13=)
c.612T>A (p.Pro204=)
c.1290T>A (p.Pro430=)
c.1413T>A (p.Pro471=)
c.687T>A (p.Pro229=)
c.1293T>A (p.Pro431=)
n.2423+2801A>T
n.1652T>A
10g.18539268T>CCA468440511CACNB2,NSUN6c.1383T>C (p.Pro461=)
c.1248T>C (p.Pro416=)
c.1371T>C (p.Pro457=)
c.1443T>C (p.Pro481=)
c.1527T>C (p.Pro509=)
c.1365T>C (p.Pro455=)
c.1152T>C (p.Pro384=)
c.1329T>C (p.Pro443=)
c.*668T>C (n.*668T>C)
c.1269T>C (p.Pro423=)
c.*801T>C (n.*801T>C)
c.1084T>C (n.1084T>C)
c.*766T>C (n.*766T>C)
c.1347T>C (p.Pro449=)
c.*627T>C (n.*627T>C)
c.1455T>C (p.Pro485=)
c.777T>C (p.Pro259=)
c.1362T>C (p.Pro454=)
c.1231T>C (n.1231T>C)
c.39T>C (p.Pro13=)
c.612T>C (p.Pro204=)
c.1290T>C (p.Pro430=)
c.1413T>C (p.Pro471=)
c.687T>C (p.Pro229=)
c.1293T>C (p.Pro431=)
n.2423+2801A>G
n.1652T>C
10g.18539268T>GCA468440512CACNB2,NSUN6c.1383T>G (p.Pro461=)
c.1248T>G (p.Pro416=)
c.1371T>G (p.Pro457=)
c.1443T>G (p.Pro481=)
c.1527T>G (p.Pro509=)
c.1365T>G (p.Pro455=)
c.1152T>G (p.Pro384=)
c.1329T>G (p.Pro443=)
c.*668T>G (n.*668T>G)
c.1269T>G (p.Pro423=)
c.*801T>G (n.*801T>G)
c.1084T>G (n.1084T>G)
c.*766T>G (n.*766T>G)
c.1347T>G (p.Pro449=)
c.*627T>G (n.*627T>G)
c.1455T>G (p.Pro485=)
c.777T>G (p.Pro259=)
c.1362T>G (p.Pro454=)
c.1231T>G (n.1231T>G)
c.39T>G (p.Pro13=)
c.612T>G (p.Pro204=)
c.1290T>G (p.Pro430=)
c.1413T>G (p.Pro471=)
c.687T>G (p.Pro229=)
c.1293T>G (p.Pro431=)
n.2423+2801A>C
n.1652T>G
10g.18539269A=CA1894172808CACNB2,NSUN6c.1384A= (p.Ile462=)
c.1249A= (p.Ile417=)
c.1372A= (p.Ile458=)
c.1444A= (p.Ile482=)
c.1528A= (p.Ile510=)
c.1366A= (p.Ile456=)
c.1153A= (p.Ile385=)
c.1330A= (p.Ile444=)
c.*669A= (n.*669A=)
c.1270A= (p.Ile424=)
c.*802A= (n.*802A=)
c.1085A= (n.1085A=)
c.*767A= (n.*767A=)
c.1348A= (p.Ile450=)
c.*628A= (n.*628A=)
c.1456A= (p.Ile486=)
c.778A= (p.Ile260=)
c.1363A= (p.Ile455=)
c.1232A= (n.1232A=)
c.40A= (p.Ile14=)
c.613A= (p.Ile205=)
c.1291A= (p.Ile431=)
c.1414A= (p.Ile472=)
c.688A= (p.Ile230=)
c.1294A= (p.Ile432=)
n.2423+2800T=
n.1653A=
10g.18539269A>CCA376071197CACNB2,NSUN6c.1384A>C (p.Ile462Leu)
c.1249A>C (p.Ile417Leu)
c.1372A>C (p.Ile458Leu)
c.1444A>C (p.Ile482Leu)
c.1528A>C (p.Ile510Leu)
c.1366A>C (p.Ile456Leu)
c.1153A>C (p.Ile385Leu)
c.1330A>C (p.Ile444Leu)
c.*669A>C (n.*669A>C)
c.1270A>C (p.Ile424Leu)
c.*802A>C (n.*802A>C)
c.1085A>C (n.1085A>C)
c.*767A>C (n.*767A>C)
c.1348A>C (p.Ile450Leu)
c.*628A>C (n.*628A>C)
c.1456A>C (p.Ile486Leu)
c.778A>C (p.Ile260Leu)
c.1363A>C (p.Ile455Leu)
c.1232A>C (n.1232A>C)
c.40A>C (p.Ile14Leu)
c.613A>C (p.Ile205Leu)
c.1291A>C (p.Ile431Leu)
c.1414A>C (p.Ile472Leu)
c.688A>C (p.Ile230Leu)
c.1294A>C (p.Ile432Leu)
n.2423+2800T>G
n.1653A>C
10g.18539269A>GCA5430088CACNB2,NSUN6c.1384A>G (p.Ile462Val)
c.1249A>G (p.Ile417Val)
c.1372A>G (p.Ile458Val)
c.1444A>G (p.Ile482Val)
c.1528A>G (p.Ile510Val)
c.1366A>G (p.Ile456Val)
c.1153A>G (p.Ile385Val)
c.1330A>G (p.Ile444Val)
c.*669A>G (n.*669A>G)
c.1270A>G (p.Ile424Val)
c.*802A>G (n.*802A>G)
c.1085A>G (n.1085A>G)
c.*767A>G (n.*767A>G)
c.1348A>G (p.Ile450Val)
c.*628A>G (n.*628A>G)
c.1456A>G (p.Ile486Val)
c.778A>G (p.Ile260Val)
c.1363A>G (p.Ile455Val)
c.1232A>G (n.1232A>G)
c.40A>G (p.Ile14Val)
c.613A>G (p.Ile205Val)
c.1291A>G (p.Ile431Val)
c.1414A>G (p.Ile472Val)
c.688A>G (p.Ile230Val)
c.1294A>G (p.Ile432Val)
n.2423+2800T>C
n.1653A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539269A>TCA376071199CACNB2,NSUN6c.1384A>T (p.Ile462Phe)
c.1249A>T (p.Ile417Phe)
c.1372A>T (p.Ile458Phe)
c.1444A>T (p.Ile482Phe)
c.1528A>T (p.Ile510Phe)
c.1366A>T (p.Ile456Phe)
c.1153A>T (p.Ile385Phe)
c.1330A>T (p.Ile444Phe)
c.*669A>T (n.*669A>T)
c.1270A>T (p.Ile424Phe)
c.*802A>T (n.*802A>T)
c.1085A>T (n.1085A>T)
c.*767A>T (n.*767A>T)
c.1348A>T (p.Ile450Phe)
c.*628A>T (n.*628A>T)
c.1456A>T (p.Ile486Phe)
c.778A>T (p.Ile260Phe)
c.1363A>T (p.Ile455Phe)
c.1232A>T (n.1232A>T)
c.40A>T (p.Ile14Phe)
c.613A>T (p.Ile205Phe)
c.1291A>T (p.Ile431Phe)
c.1414A>T (p.Ile472Phe)
c.688A>T (p.Ile230Phe)
c.1294A>T (p.Ile432Phe)
n.2423+2800T>A
n.1653A>T
10g.18539270T>ACA376071204CACNB2,NSUN6c.1385T>A (p.Ile462Asn)
c.1250T>A (p.Ile417Asn)
c.1373T>A (p.Ile458Asn)
c.1445T>A (p.Ile482Asn)
c.1529T>A (p.Ile510Asn)
c.1367T>A (p.Ile456Asn)
c.1154T>A (p.Ile385Asn)
c.1331T>A (p.Ile444Asn)
c.*670T>A (n.*670T>A)
c.1271T>A (p.Ile424Asn)
c.*803T>A (n.*803T>A)
c.1086T>A (n.1086T>A)
c.*768T>A (n.*768T>A)
c.1349T>A (p.Ile450Asn)
c.*629T>A (n.*629T>A)
c.1457T>A (p.Ile486Asn)
c.779T>A (p.Ile260Asn)
c.1364T>A (p.Ile455Asn)
c.1233T>A (n.1233T>A)
c.41T>A (p.Ile14Asn)
c.614T>A (p.Ile205Asn)
c.1292T>A (p.Ile431Asn)
c.1415T>A (p.Ile472Asn)
c.689T>A (p.Ile230Asn)
c.1295T>A (p.Ile432Asn)
n.2423+2799A>T
n.1654T>A
 gnomAD v4
10g.18539270T>CCA376071201CACNB2,NSUN6c.1385T>C (p.Ile462Thr)
c.1250T>C (p.Ile417Thr)
c.1373T>C (p.Ile458Thr)
c.1445T>C (p.Ile482Thr)
c.1529T>C (p.Ile510Thr)
c.1367T>C (p.Ile456Thr)
c.1154T>C (p.Ile385Thr)
c.1331T>C (p.Ile444Thr)
c.*670T>C (n.*670T>C)
c.1271T>C (p.Ile424Thr)
c.*803T>C (n.*803T>C)
c.1086T>C (n.1086T>C)
c.*768T>C (n.*768T>C)
c.1349T>C (p.Ile450Thr)
c.*629T>C (n.*629T>C)
c.1457T>C (p.Ile486Thr)
c.779T>C (p.Ile260Thr)
c.1364T>C (p.Ile455Thr)
c.1233T>C (n.1233T>C)
c.41T>C (p.Ile14Thr)
c.614T>C (p.Ile205Thr)
c.1292T>C (p.Ile431Thr)
c.1415T>C (p.Ile472Thr)
c.689T>C (p.Ile230Thr)
c.1295T>C (p.Ile432Thr)
n.2423+2799A>G
n.1654T>C
10g.18539270T>GCA376071202CACNB2,NSUN6c.1385T>G (p.Ile462Ser)
c.1250T>G (p.Ile417Ser)
c.1373T>G (p.Ile458Ser)
c.1445T>G (p.Ile482Ser)
c.1529T>G (p.Ile510Ser)
c.1367T>G (p.Ile456Ser)
c.1154T>G (p.Ile385Ser)
c.1331T>G (p.Ile444Ser)
c.*670T>G (n.*670T>G)
c.1271T>G (p.Ile424Ser)
c.*803T>G (n.*803T>G)
c.1086T>G (n.1086T>G)
c.*768T>G (n.*768T>G)
c.1349T>G (p.Ile450Ser)
c.*629T>G (n.*629T>G)
c.1457T>G (p.Ile486Ser)
c.779T>G (p.Ile260Ser)
c.1364T>G (p.Ile455Ser)
c.1233T>G (n.1233T>G)
c.41T>G (p.Ile14Ser)
c.614T>G (p.Ile205Ser)
c.1292T>G (p.Ile431Ser)
c.1415T>G (p.Ile472Ser)
c.689T>G (p.Ile230Ser)
c.1295T>G (p.Ile432Ser)
n.2423+2799A>C
n.1654T>G
10g.18539271C>ACA468440514CACNB2,NSUN6c.1386C>A (p.Ile462=)
c.1251C>A (p.Ile417=)
c.1374C>A (p.Ile458=)
c.1446C>A (p.Ile482=)
c.1530C>A (p.Ile510=)
c.1368C>A (p.Ile456=)
c.1155C>A (p.Ile385=)
c.1332C>A (p.Ile444=)
c.*671C>A (n.*671C>A)
c.1272C>A (p.Ile424=)
c.*804C>A (n.*804C>A)
c.1087C>A (n.1087C>A)
c.*769C>A (n.*769C>A)
c.1350C>A (p.Ile450=)
c.*630C>A (n.*630C>A)
c.1458C>A (p.Ile486=)
c.780C>A (p.Ile260=)
c.1365C>A (p.Ile455=)
c.1234C>A (n.1234C>A)
c.42C>A (p.Ile14=)
c.615C>A (p.Ile205=)
c.1293C>A (p.Ile431=)
c.1416C>A (p.Ile472=)
c.690C>A (p.Ile230=)
c.1296C>A (p.Ile432=)
n.2423+2798G>T
n.1655C>A
 gnomAD v4
10g.18539271C=CA1894172816CACNB2,NSUN6c.1386C= (p.Ile462=)
c.1251C= (p.Ile417=)
c.1374C= (p.Ile458=)
c.1446C= (p.Ile482=)
c.1530C= (p.Ile510=)
c.1368C= (p.Ile456=)
c.1155C= (p.Ile385=)
c.1332C= (p.Ile444=)
c.*671C= (n.*671C=)
c.1272C= (p.Ile424=)
c.*804C= (n.*804C=)
c.1087C= (n.1087C=)
c.*769C= (n.*769C=)
c.1350C= (p.Ile450=)
c.*630C= (n.*630C=)
c.1458C= (p.Ile486=)
c.780C= (p.Ile260=)
c.1365C= (p.Ile455=)
c.1234C= (n.1234C=)
c.42C= (p.Ile14=)
c.615C= (p.Ile205=)
c.1293C= (p.Ile431=)
c.1416C= (p.Ile472=)
c.690C= (p.Ile230=)
c.1296C= (p.Ile432=)
n.2423+2798G=
n.1655C=
10g.18539271C>GCA376071206CACNB2,NSUN6c.1386C>G (p.Ile462Met)
c.1251C>G (p.Ile417Met)
c.1374C>G (p.Ile458Met)
c.1446C>G (p.Ile482Met)
c.1530C>G (p.Ile510Met)
c.1368C>G (p.Ile456Met)
c.1155C>G (p.Ile385Met)
c.1332C>G (p.Ile444Met)
c.*671C>G (n.*671C>G)
c.1272C>G (p.Ile424Met)
c.*804C>G (n.*804C>G)
c.1087C>G (n.1087C>G)
c.*769C>G (n.*769C>G)
c.1350C>G (p.Ile450Met)
c.*630C>G (n.*630C>G)
c.1458C>G (p.Ile486Met)
c.780C>G (p.Ile260Met)
c.1365C>G (p.Ile455Met)
c.1234C>G (n.1234C>G)
c.42C>G (p.Ile14Met)
c.615C>G (p.Ile205Met)
c.1293C>G (p.Ile431Met)
c.1416C>G (p.Ile472Met)
c.690C>G (p.Ile230Met)
c.1296C>G (p.Ile432Met)
n.2423+2798G>C
n.1655C>G
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
10g.18539271C>TCA203167143CACNB2,NSUN6c.1386C>T (p.Ile462=)
c.1251C>T (p.Ile417=)
c.1374C>T (p.Ile458=)
c.1446C>T (p.Ile482=)
c.1530C>T (p.Ile510=)
c.1368C>T (p.Ile456=)
c.1155C>T (p.Ile385=)
c.1332C>T (p.Ile444=)
c.*671C>T (n.*671C>T)
c.1272C>T (p.Ile424=)
c.*804C>T (n.*804C>T)
c.1087C>T (n.1087C>T)
c.*769C>T (n.*769C>T)
c.1350C>T (p.Ile450=)
c.*630C>T (n.*630C>T)
c.1458C>T (p.Ile486=)
c.780C>T (p.Ile260=)
c.1365C>T (p.Ile455=)
c.1234C>T (n.1234C>T)
c.42C>T (p.Ile14=)
c.615C>T (p.Ile205=)
c.1293C>T (p.Ile431=)
c.1416C>T (p.Ile472=)
c.690C>T (p.Ile230=)
c.1296C>T (p.Ile432=)
n.2423+2798G>A
n.1655C>T
 ClinVar dbSNP gnomAD v4
10g.18539272C>ACA376071207CACNB2,NSUN6c.1387C>A (p.Arg463Ser)
c.1252C>A (p.Arg418Ser)
c.1375C>A (p.Arg459Ser)
c.1447C>A (p.Arg483Ser)
c.1531C>A (p.Arg511Ser)
c.1369C>A (p.Arg457Ser)
c.1156C>A (p.Arg386Ser)
c.1333C>A (p.Arg445Ser)
c.*672C>A (n.*672C>A)
c.1273C>A (p.Arg425Ser)
c.*805C>A (n.*805C>A)
c.1088C>A (n.1088C>A)
c.*770C>A (n.*770C>A)
c.1351C>A (p.Arg451Ser)
c.*631C>A (n.*631C>A)
c.1459C>A (p.Arg487Ser)
c.781C>A (p.Arg261Ser)
c.1366C>A (p.Arg456Ser)
c.1235C>A (n.1235C>A)
c.43C>A (p.Arg15Ser)
c.616C>A (p.Arg206Ser)
c.1294C>A (p.Arg432Ser)
c.1417C>A (p.Arg473Ser)
c.691C>A (p.Arg231Ser)
c.1297C>A (p.Arg433Ser)
n.2423+2797G>T
n.1656C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.18539272C=CA1894172820CACNB2,NSUN6c.1387C= (p.Arg463=)
c.1252C= (p.Arg418=)
c.1375C= (p.Arg459=)
c.1447C= (p.Arg483=)
c.1531C= (p.Arg511=)
c.1369C= (p.Arg457=)
c.1156C= (p.Arg386=)
c.1333C= (p.Arg445=)
c.*672C= (n.*672C=)
c.1273C= (p.Arg425=)
c.*805C= (n.*805C=)
c.1088C= (n.1088C=)
c.*770C= (n.*770C=)
c.1351C= (p.Arg451=)
c.*631C= (n.*631C=)
c.1459C= (p.Arg487=)
c.781C= (p.Arg261=)
c.1366C= (p.Arg456=)
c.1235C= (n.1235C=)
c.43C= (p.Arg15=)
c.616C= (p.Arg206=)
c.1294C= (p.Arg432=)
c.1417C= (p.Arg473=)
c.691C= (p.Arg231=)
c.1297C= (p.Arg433=)
n.2423+2797G=
n.1656C=
10g.18539272C>GCA376071208CACNB2,NSUN6c.1387C>G (p.Arg463Gly)
c.1252C>G (p.Arg418Gly)
c.1375C>G (p.Arg459Gly)
c.1447C>G (p.Arg483Gly)
c.1531C>G (p.Arg511Gly)
c.1369C>G (p.Arg457Gly)
c.1156C>G (p.Arg386Gly)
c.1333C>G (p.Arg445Gly)
c.*672C>G (n.*672C>G)
c.1273C>G (p.Arg425Gly)
c.*805C>G (n.*805C>G)
c.1088C>G (n.1088C>G)
c.*770C>G (n.*770C>G)
c.1351C>G (p.Arg451Gly)
c.*631C>G (n.*631C>G)
c.1459C>G (p.Arg487Gly)
c.781C>G (p.Arg261Gly)
c.1366C>G (p.Arg456Gly)
c.1235C>G (n.1235C>G)
c.43C>G (p.Arg15Gly)
c.616C>G (p.Arg206Gly)
c.1294C>G (p.Arg432Gly)
c.1417C>G (p.Arg473Gly)
c.691C>G (p.Arg231Gly)
c.1297C>G (p.Arg433Gly)
n.2423+2797G>C
n.1656C>G
10g.18539272C>TCA5430089CACNB2,NSUN6c.1387C>T (p.Arg463Cys)
c.1252C>T (p.Arg418Cys)
c.1375C>T (p.Arg459Cys)
c.1447C>T (p.Arg483Cys)
c.1531C>T (p.Arg511Cys)
c.1369C>T (p.Arg457Cys)
c.1156C>T (p.Arg386Cys)
c.1333C>T (p.Arg445Cys)
c.*672C>T (n.*672C>T)
c.1273C>T (p.Arg425Cys)
c.*805C>T (n.*805C>T)
c.1088C>T (n.1088C>T)
c.*770C>T (n.*770C>T)
c.1351C>T (p.Arg451Cys)
c.*631C>T (n.*631C>T)
c.1459C>T (p.Arg487Cys)
c.781C>T (p.Arg261Cys)
c.1366C>T (p.Arg456Cys)
c.1235C>T (n.1235C>T)
c.43C>T (p.Arg15Cys)
c.616C>T (p.Arg206Cys)
c.1294C>T (p.Arg432Cys)
c.1417C>T (p.Arg473Cys)
c.691C>T (p.Arg231Cys)
c.1297C>T (p.Arg433Cys)
n.2423+2797G>A
n.1656C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
10g.18539273G>ACA5430090CACNB2,NSUN6c.1388G>A (p.Arg463His)
c.1253G>A (p.Arg418His)
c.1376G>A (p.Arg459His)
c.1448G>A (p.Arg483His)
c.1532G>A (p.Arg511His)
c.1370G>A (p.Arg457His)
c.1157G>A (p.Arg386His)
c.1334G>A (p.Arg445His)
c.*673G>A (n.*673G>A)
c.1274G>A (p.Arg425His)
c.*806G>A (n.*806G>A)
c.1089G>A (n.1089G>A)
c.*771G>A (n.*771G>A)
c.1352G>A (p.Arg451His)
c.*632G>A (n.*632G>A)
c.1460G>A (p.Arg487His)
c.782G>A (p.Arg261His)
c.1367G>A (p.Arg456His)
c.1236G>A (n.1236G>A)
c.44G>A (p.Arg15His)
c.617G>A (p.Arg206His)
c.1295G>A (p.Arg432His)
c.1418G>A (p.Arg473His)
c.692G>A (p.Arg231His)
c.1298G>A (p.Arg433His)
n.2423+2796C>T
n.1657G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539273G>CCA376071211CACNB2,NSUN6c.1388G>C (p.Arg463Pro)
c.1253G>C (p.Arg418Pro)
c.1376G>C (p.Arg459Pro)
c.1448G>C (p.Arg483Pro)
c.1532G>C (p.Arg511Pro)
c.1370G>C (p.Arg457Pro)
c.1157G>C (p.Arg386Pro)
c.1334G>C (p.Arg445Pro)
c.*673G>C (n.*673G>C)
c.1274G>C (p.Arg425Pro)
c.*806G>C (n.*806G>C)
c.1089G>C (n.1089G>C)
c.*771G>C (n.*771G>C)
c.1352G>C (p.Arg451Pro)
c.*632G>C (n.*632G>C)
c.1460G>C (p.Arg487Pro)
c.782G>C (p.Arg261Pro)
c.1367G>C (p.Arg456Pro)
c.1236G>C (n.1236G>C)
c.44G>C (p.Arg15Pro)
c.617G>C (p.Arg206Pro)
c.1295G>C (p.Arg432Pro)
c.1418G>C (p.Arg473Pro)
c.692G>C (p.Arg231Pro)
c.1298G>C (p.Arg433Pro)
n.2423+2796C>G
n.1657G>C
 gnomAD v4
10g.18539273G=CA1894172829CACNB2,NSUN6c.1388G= (p.Arg463=)
c.1253G= (p.Arg418=)
c.1376G= (p.Arg459=)
c.1448G= (p.Arg483=)
c.1532G= (p.Arg511=)
c.1370G= (p.Arg457=)
c.1157G= (p.Arg386=)
c.1334G= (p.Arg445=)
c.*673G= (n.*673G=)
c.1274G= (p.Arg425=)
c.*806G= (n.*806G=)
c.1089G= (n.1089G=)
c.*771G= (n.*771G=)
c.1352G= (p.Arg451=)
c.*632G= (n.*632G=)
c.1460G= (p.Arg487=)
c.782G= (p.Arg261=)
c.1367G= (p.Arg456=)
c.1236G= (n.1236G=)
c.44G= (p.Arg15=)
c.617G= (p.Arg206=)
c.1295G= (p.Arg432=)
c.1418G= (p.Arg473=)
c.692G= (p.Arg231=)
c.1298G= (p.Arg433=)
n.2423+2796C=
n.1657G=
10g.18539273G>TCA376071212CACNB2,NSUN6c.1388G>T (p.Arg463Leu)
c.1253G>T (p.Arg418Leu)
c.1376G>T (p.Arg459Leu)
c.1448G>T (p.Arg483Leu)
c.1532G>T (p.Arg511Leu)
c.1370G>T (p.Arg457Leu)
c.1157G>T (p.Arg386Leu)
c.1334G>T (p.Arg445Leu)
c.*673G>T (n.*673G>T)
c.1274G>T (p.Arg425Leu)
c.*806G>T (n.*806G>T)
c.1089G>T (n.1089G>T)
c.*771G>T (n.*771G>T)
c.1352G>T (p.Arg451Leu)
c.*632G>T (n.*632G>T)
c.1460G>T (p.Arg487Leu)
c.782G>T (p.Arg261Leu)
c.1367G>T (p.Arg456Leu)
c.1236G>T (n.1236G>T)
c.44G>T (p.Arg15Leu)
c.617G>T (p.Arg206Leu)
c.1295G>T (p.Arg432Leu)
c.1418G>T (p.Arg473Leu)
c.692G>T (p.Arg231Leu)
c.1298G>T (p.Arg433Leu)
n.2423+2796C>A
n.1657G>T
10g.18539273_18539274delinsGTCA1894172828CACNB2,NSUN6c.1388_1389delinsGT (p.Arg463=)
c.1253_1254delinsGT (p.Arg418=)
c.1376_1377delinsGT (p.Arg459=)
c.1448_1449delinsGT (p.Arg483=)
c.1532_1533delinsGT (p.Arg511=)
c.1370_1371delinsGT (p.Arg457=)
c.1157_1158delinsGT (p.Arg386=)
c.1334_1335delinsGT (p.Arg445=)
c.*673_*674delinsGT (n.*673_*674delinsGT)
c.1274_1275delinsGT (p.Arg425=)
c.*806_*807delinsGT (n.*806_*807delinsGT)
c.1089_1090delinsGT (n.1089_1090delinsGT)
c.*771_*772delinsGT (n.*771_*772delinsGT)
c.1352_1353delinsGT (p.Arg451=)
c.*632_*633delinsGT (n.*632_*633delinsGT)
c.1460_1461delinsGT (p.Arg487=)
c.782_783delinsGT (p.Arg261=)
c.1367_1368delinsGT (p.Arg456=)
c.1236_1237delinsGT (n.1236_1237delinsGT)
c.44_45delinsGT (p.Arg15=)
c.617_618delinsGT (p.Arg206=)
c.1295_1296delinsGT (p.Arg432=)
c.1418_1419delinsGT (p.Arg473=)
c.692_693delinsGT (p.Arg231=)
c.1298_1299delinsGT (p.Arg433=)
n.2423+2795_2423+2796delinsAC
n.1657_1658delinsGT
10g.18539274T>ACA468440521CACNB2,NSUN6c.1389T>A (p.Arg463=)
c.1254T>A (p.Arg418=)
c.1377T>A (p.Arg459=)
c.1449T>A (p.Arg483=)
c.1533T>A (p.Arg511=)
c.1371T>A (p.Arg457=)
c.1158T>A (p.Arg386=)
c.1335T>A (p.Arg445=)
c.*674T>A (n.*674T>A)
c.1275T>A (p.Arg425=)
c.*807T>A (n.*807T>A)
c.1090T>A (n.1090T>A)
c.*772T>A (n.*772T>A)
c.1353T>A (p.Arg451=)
c.*633T>A (n.*633T>A)
c.1461T>A (p.Arg487=)
c.783T>A (p.Arg261=)
c.1368T>A (p.Arg456=)
c.1237T>A (n.1237T>A)
c.45T>A (p.Arg15=)
c.618T>A (p.Arg206=)
c.1296T>A (p.Arg432=)
c.1419T>A (p.Arg473=)
c.693T>A (p.Arg231=)
c.1299T>A (p.Arg433=)
n.2423+2795A>T
n.1658T>A
10g.18539274T>CCA468440519CACNB2,NSUN6c.1389T>C (p.Arg463=)
c.1254T>C (p.Arg418=)
c.1377T>C (p.Arg459=)
c.1449T>C (p.Arg483=)
c.1533T>C (p.Arg511=)
c.1371T>C (p.Arg457=)
c.1158T>C (p.Arg386=)
c.1335T>C (p.Arg445=)
c.*674T>C (n.*674T>C)
c.1275T>C (p.Arg425=)
c.*807T>C (n.*807T>C)
c.1090T>C (n.1090T>C)
c.*772T>C (n.*772T>C)
c.1353T>C (p.Arg451=)
c.*633T>C (n.*633T>C)
c.1461T>C (p.Arg487=)
c.783T>C (p.Arg261=)
c.1368T>C (p.Arg456=)
c.1237T>C (n.1237T>C)
c.45T>C (p.Arg15=)
c.618T>C (p.Arg206=)
c.1296T>C (p.Arg432=)
c.1419T>C (p.Arg473=)
c.693T>C (p.Arg231=)
c.1299T>C (p.Arg433=)
n.2423+2795A>G
n.1658T>C
10g.18539274T>GCA468440517CACNB2,NSUN6c.1389T>G (p.Arg463=)
c.1254T>G (p.Arg418=)
c.1377T>G (p.Arg459=)
c.1449T>G (p.Arg483=)
c.1533T>G (p.Arg511=)
c.1371T>G (p.Arg457=)
c.1158T>G (p.Arg386=)
c.1335T>G (p.Arg445=)
c.*674T>G (n.*674T>G)
c.1275T>G (p.Arg425=)
c.*807T>G (n.*807T>G)
c.1090T>G (n.1090T>G)
c.*772T>G (n.*772T>G)
c.1353T>G (p.Arg451=)
c.*633T>G (n.*633T>G)
c.1461T>G (p.Arg487=)
c.783T>G (p.Arg261=)
c.1368T>G (p.Arg456=)
c.1237T>G (n.1237T>G)
c.45T>G (p.Arg15=)
c.618T>G (p.Arg206=)
c.1296T>G (p.Arg432=)
c.1419T>G (p.Arg473=)
c.693T>G (p.Arg231=)
c.1299T>G (p.Arg433=)
n.2423+2795A>C
n.1658T>G
10g.18539275delCA5430091CACNB2,NSUN6c.1390del (p.Ser464LeufsTer?)
c.1255del (p.Ser419LeufsTer?)
c.1378del (p.Ser460LeufsTer?)
c.1450del (p.Ser484LeufsTer?)
c.1534del (p.Ser512LeufsTer?)
c.1372del (p.Ser458LeufsTer?)
c.1159del (p.Ser387LeufsTer?)
c.1336del (p.Ser446LeufsTer?)
c.*675del (n.*675del)
c.1276del (p.Ser426LeufsTer?)
c.*808del (n.*808del)
c.1091del (n.1091del)
c.*773del (n.*773del)
c.1354del (p.Ser452LeufsTer?)
c.*634del (n.*634del)
c.1462del (p.Ser488LeufsTer?)
c.784del (p.Ser262LeufsTer?)
c.1369del (p.Ser457LeufsTer?)
c.1238del (n.1238del)
c.46del (p.Ser16LeufsTer?)
c.619del (p.Ser207LeufsTer?)
c.1297del (p.Ser433LeufsTer?)
c.1420del (p.Ser474LeufsTer?)
c.694del (p.Ser232LeufsTer?)
c.1300del (p.Ser434LeufsTer?)
n.2423+2795del
n.1659del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539275T>ACA376071214CACNB2,NSUN6c.1390T>A (p.Ser464Thr)
c.1255T>A (p.Ser419Thr)
c.1378T>A (p.Ser460Thr)
c.1450T>A (p.Ser484Thr)
c.1534T>A (p.Ser512Thr)
c.1372T>A (p.Ser458Thr)
c.1159T>A (p.Ser387Thr)
c.1336T>A (p.Ser446Thr)
c.*675T>A (n.*675T>A)
c.1276T>A (p.Ser426Thr)
c.*808T>A (n.*808T>A)
c.1091T>A (n.1091T>A)
c.*773T>A (n.*773T>A)
c.1354T>A (p.Ser452Thr)
c.*634T>A (n.*634T>A)
c.1462T>A (p.Ser488Thr)
c.784T>A (p.Ser262Thr)
c.1369T>A (p.Ser457Thr)
c.1238T>A (n.1238T>A)
c.46T>A (p.Ser16Thr)
c.619T>A (p.Ser207Thr)
c.1297T>A (p.Ser433Thr)
c.1420T>A (p.Ser474Thr)
c.694T>A (p.Ser232Thr)
c.1300T>A (p.Ser434Thr)
n.2423+2794A>T
n.1659T>A
10g.18539275T>CCA376071216CACNB2,NSUN6c.1390T>C (p.Ser464Pro)
c.1255T>C (p.Ser419Pro)
c.1378T>C (p.Ser460Pro)
c.1450T>C (p.Ser484Pro)
c.1534T>C (p.Ser512Pro)
c.1372T>C (p.Ser458Pro)
c.1159T>C (p.Ser387Pro)
c.1336T>C (p.Ser446Pro)
c.*675T>C (n.*675T>C)
c.1276T>C (p.Ser426Pro)
c.*808T>C (n.*808T>C)
c.1091T>C (n.1091T>C)
c.*773T>C (n.*773T>C)
c.1354T>C (p.Ser452Pro)
c.*634T>C (n.*634T>C)
c.1462T>C (p.Ser488Pro)
c.784T>C (p.Ser262Pro)
c.1369T>C (p.Ser457Pro)
c.1238T>C (n.1238T>C)
c.46T>C (p.Ser16Pro)
c.619T>C (p.Ser207Pro)
c.1297T>C (p.Ser433Pro)
c.1420T>C (p.Ser474Pro)
c.694T>C (p.Ser232Pro)
c.1300T>C (p.Ser434Pro)
n.2423+2794A>G
n.1659T>C
 gnomAD v4
10g.18539275T>GCA376071218CACNB2,NSUN6c.1390T>G (p.Ser464Ala)
c.1255T>G (p.Ser419Ala)
c.1378T>G (p.Ser460Ala)
c.1450T>G (p.Ser484Ala)
c.1534T>G (p.Ser512Ala)
c.1372T>G (p.Ser458Ala)
c.1159T>G (p.Ser387Ala)
c.1336T>G (p.Ser446Ala)
c.*675T>G (n.*675T>G)
c.1276T>G (p.Ser426Ala)
c.*808T>G (n.*808T>G)
c.1091T>G (n.1091T>G)
c.*773T>G (n.*773T>G)
c.1354T>G (p.Ser452Ala)
c.*634T>G (n.*634T>G)
c.1462T>G (p.Ser488Ala)
c.784T>G (p.Ser262Ala)
c.1369T>G (p.Ser457Ala)
c.1238T>G (n.1238T>G)
c.46T>G (p.Ser16Ala)
c.619T>G (p.Ser207Ala)
c.1297T>G (p.Ser433Ala)
c.1420T>G (p.Ser474Ala)
c.694T>G (p.Ser232Ala)
c.1300T>G (p.Ser434Ala)
n.2423+2794A>C
n.1659T>G
10g.18539276C>ACA376071222CACNB2,NSUN6c.1391C>A (p.Ser464Tyr)
c.1256C>A (p.Ser419Tyr)
c.1379C>A (p.Ser460Tyr)
c.1451C>A (p.Ser484Tyr)
c.1535C>A (p.Ser512Tyr)
c.1373C>A (p.Ser458Tyr)
c.1160C>A (p.Ser387Tyr)
c.1337C>A (p.Ser446Tyr)
c.*676C>A (n.*676C>A)
c.1277C>A (p.Ser426Tyr)
c.*809C>A (n.*809C>A)
c.1092C>A (n.1092C>A)
c.*774C>A (n.*774C>A)
c.1355C>A (p.Ser452Tyr)
c.*635C>A (n.*635C>A)
c.1463C>A (p.Ser488Tyr)
c.785C>A (p.Ser262Tyr)
c.1370C>A (p.Ser457Tyr)
c.1239C>A (n.1239C>A)
c.47C>A (p.Ser16Tyr)
c.620C>A (p.Ser207Tyr)
c.1298C>A (p.Ser433Tyr)
c.1421C>A (p.Ser474Tyr)
c.695C>A (p.Ser232Tyr)
c.1301C>A (p.Ser434Tyr)
n.2423+2793G>T
n.1660C>A
 gnomAD v4
10g.18539276C>GCA376071221CACNB2,NSUN6c.1391C>G (p.Ser464Cys)
c.1256C>G (p.Ser419Cys)
c.1379C>G (p.Ser460Cys)
c.1451C>G (p.Ser484Cys)
c.1535C>G (p.Ser512Cys)
c.1373C>G (p.Ser458Cys)
c.1160C>G (p.Ser387Cys)
c.1337C>G (p.Ser446Cys)
c.*676C>G (n.*676C>G)
c.1277C>G (p.Ser426Cys)
c.*809C>G (n.*809C>G)
c.1092C>G (n.1092C>G)
c.*774C>G (n.*774C>G)
c.1355C>G (p.Ser452Cys)
c.*635C>G (n.*635C>G)
c.1463C>G (p.Ser488Cys)
c.785C>G (p.Ser262Cys)
c.1370C>G (p.Ser457Cys)
c.1239C>G (n.1239C>G)
c.47C>G (p.Ser16Cys)
c.620C>G (p.Ser207Cys)
c.1298C>G (p.Ser433Cys)
c.1421C>G (p.Ser474Cys)
c.695C>G (p.Ser232Cys)
c.1301C>G (p.Ser434Cys)
n.2423+2793G>C
n.1660C>G
 gnomAD v4
10g.18539276C>TCA376071219CACNB2,NSUN6c.1391C>T (p.Ser464Phe)
c.1256C>T (p.Ser419Phe)
c.1379C>T (p.Ser460Phe)
c.1451C>T (p.Ser484Phe)
c.1535C>T (p.Ser512Phe)
c.1373C>T (p.Ser458Phe)
c.1160C>T (p.Ser387Phe)
c.1337C>T (p.Ser446Phe)
c.*676C>T (n.*676C>T)
c.1277C>T (p.Ser426Phe)
c.*809C>T (n.*809C>T)
c.1092C>T (n.1092C>T)
c.*774C>T (n.*774C>T)
c.1355C>T (p.Ser452Phe)
c.*635C>T (n.*635C>T)
c.1463C>T (p.Ser488Phe)
c.785C>T (p.Ser262Phe)
c.1370C>T (p.Ser457Phe)
c.1239C>T (n.1239C>T)
c.47C>T (p.Ser16Phe)
c.620C>T (p.Ser207Phe)
c.1298C>T (p.Ser433Phe)
c.1421C>T (p.Ser474Phe)
c.695C>T (p.Ser232Phe)
c.1301C>T (p.Ser434Phe)
n.2423+2793G>A
n.1660C>T
10g.18539277T>ACA468440524CACNB2,NSUN6c.1392T>A (p.Ser464=)
c.1257T>A (p.Ser419=)
c.1380T>A (p.Ser460=)
c.1452T>A (p.Ser484=)
c.1536T>A (p.Ser512=)
c.1374T>A (p.Ser458=)
c.1161T>A (p.Ser387=)
c.1338T>A (p.Ser446=)
c.*677T>A (n.*677T>A)
c.1278T>A (p.Ser426=)
c.*810T>A (n.*810T>A)
c.1093T>A (n.1093T>A)
c.*775T>A (n.*775T>A)
c.1356T>A (p.Ser452=)
c.*636T>A (n.*636T>A)
c.1464T>A (p.Ser488=)
c.786T>A (p.Ser262=)
c.1371T>A (p.Ser457=)
c.1240T>A (n.1240T>A)
c.48T>A (p.Ser16=)
c.621T>A (p.Ser207=)
c.1299T>A (p.Ser433=)
c.1422T>A (p.Ser474=)
c.696T>A (p.Ser232=)
c.1302T>A (p.Ser434=)
n.2423+2792A>T
n.1661T>A
10g.18539277T>CCA468440528CACNB2,NSUN6c.1392T>C (p.Ser464=)
c.1257T>C (p.Ser419=)
c.1380T>C (p.Ser460=)
c.1452T>C (p.Ser484=)
c.1536T>C (p.Ser512=)
c.1374T>C (p.Ser458=)
c.1161T>C (p.Ser387=)
c.1338T>C (p.Ser446=)
c.*677T>C (n.*677T>C)
c.1278T>C (p.Ser426=)
c.*810T>C (n.*810T>C)
c.1093T>C (n.1093T>C)
c.*775T>C (n.*775T>C)
c.1356T>C (p.Ser452=)
c.*636T>C (n.*636T>C)
c.1464T>C (p.Ser488=)
c.786T>C (p.Ser262=)
c.1371T>C (p.Ser457=)
c.1240T>C (n.1240T>C)
c.48T>C (p.Ser16=)
c.621T>C (p.Ser207=)
c.1299T>C (p.Ser433=)
c.1422T>C (p.Ser474=)
c.696T>C (p.Ser232=)
c.1302T>C (p.Ser434=)
n.2423+2792A>G
n.1661T>C
10g.18539277T>GCA468440527CACNB2,NSUN6c.1392T>G (p.Ser464=)
c.1257T>G (p.Ser419=)
c.1380T>G (p.Ser460=)
c.1452T>G (p.Ser484=)
c.1536T>G (p.Ser512=)
c.1374T>G (p.Ser458=)
c.1161T>G (p.Ser387=)
c.1338T>G (p.Ser446=)
c.*677T>G (n.*677T>G)
c.1278T>G (p.Ser426=)
c.*810T>G (n.*810T>G)
c.1093T>G (n.1093T>G)
c.*775T>G (n.*775T>G)
c.1356T>G (p.Ser452=)
c.*636T>G (n.*636T>G)
c.1464T>G (p.Ser488=)
c.786T>G (p.Ser262=)
c.1371T>G (p.Ser457=)
c.1240T>G (n.1240T>G)
c.48T>G (p.Ser16=)
c.621T>G (p.Ser207=)
c.1299T>G (p.Ser433=)
c.1422T>G (p.Ser474=)
c.696T>G (p.Ser232=)
c.1302T>G (p.Ser434=)
n.2423+2792A>C
n.1661T>G
10g.18539278G>ACA376071224CACNB2,NSUN6c.1393G>A (p.Ala465Thr)
c.1258G>A (p.Ala420Thr)
c.1381G>A (p.Ala461Thr)
c.1453G>A (p.Ala485Thr)
c.1537G>A (p.Ala513Thr)
c.1375G>A (p.Ala459Thr)
c.1162G>A (p.Ala388Thr)
c.1339G>A (p.Ala447Thr)
c.*678G>A (n.*678G>A)
c.1279G>A (p.Ala427Thr)
c.*811G>A (n.*811G>A)
c.1094G>A (n.1094G>A)
c.*776G>A (n.*776G>A)
c.1357G>A (p.Ala453Thr)
c.*637G>A (n.*637G>A)
c.1465G>A (p.Ala489Thr)
c.787G>A (p.Ala263Thr)
c.1372G>A (p.Ala458Thr)
c.1241G>A (n.1241G>A)
c.49G>A (p.Ala17Thr)
c.622G>A (p.Ala208Thr)
c.1300G>A (p.Ala434Thr)
c.1423G>A (p.Ala475Thr)
c.697G>A (p.Ala233Thr)
c.1303G>A (p.Ala435Thr)
n.2423+2791C>T
n.1662G>A
10g.18539278G>CCA376071226CACNB2,NSUN6c.1393G>C (p.Ala465Pro)
c.1258G>C (p.Ala420Pro)
c.1381G>C (p.Ala461Pro)
c.1453G>C (p.Ala485Pro)
c.1537G>C (p.Ala513Pro)
c.1375G>C (p.Ala459Pro)
c.1162G>C (p.Ala388Pro)
c.1339G>C (p.Ala447Pro)
c.*678G>C (n.*678G>C)
c.1279G>C (p.Ala427Pro)
c.*811G>C (n.*811G>C)
c.1094G>C (n.1094G>C)
c.*776G>C (n.*776G>C)
c.1357G>C (p.Ala453Pro)
c.*637G>C (n.*637G>C)
c.1465G>C (p.Ala489Pro)
c.787G>C (p.Ala263Pro)
c.1372G>C (p.Ala458Pro)
c.1241G>C (n.1241G>C)
c.49G>C (p.Ala17Pro)
c.622G>C (p.Ala208Pro)
c.1300G>C (p.Ala434Pro)
c.1423G>C (p.Ala475Pro)
c.697G>C (p.Ala233Pro)
c.1303G>C (p.Ala435Pro)
n.2423+2791C>G
n.1662G>C
10g.18539278G>TCA376071225CACNB2,NSUN6c.1393G>T (p.Ala465Ser)
c.1258G>T (p.Ala420Ser)
c.1381G>T (p.Ala461Ser)
c.1453G>T (p.Ala485Ser)
c.1537G>T (p.Ala513Ser)
c.1375G>T (p.Ala459Ser)
c.1162G>T (p.Ala388Ser)
c.1339G>T (p.Ala447Ser)
c.*678G>T (n.*678G>T)
c.1279G>T (p.Ala427Ser)
c.*811G>T (n.*811G>T)
c.1094G>T (n.1094G>T)
c.*776G>T (n.*776G>T)
c.1357G>T (p.Ala453Ser)
c.*637G>T (n.*637G>T)
c.1465G>T (p.Ala489Ser)
c.787G>T (p.Ala263Ser)
c.1372G>T (p.Ala458Ser)
c.1241G>T (n.1241G>T)
c.49G>T (p.Ala17Ser)
c.622G>T (p.Ala208Ser)
c.1300G>T (p.Ala434Ser)
c.1423G>T (p.Ala475Ser)
c.697G>T (p.Ala233Ser)
c.1303G>T (p.Ala435Ser)
n.2423+2791C>A
n.1662G>T
10g.18539279C>ACA376071229CACNB2,NSUN6c.1394C>A (p.Ala465Asp)
c.1259C>A (p.Ala420Asp)
c.1382C>A (p.Ala461Asp)
c.1454C>A (p.Ala485Asp)
c.1538C>A (p.Ala513Asp)
c.1376C>A (p.Ala459Asp)
c.1163C>A (p.Ala388Asp)
c.1340C>A (p.Ala447Asp)
c.*679C>A (n.*679C>A)
c.1280C>A (p.Ala427Asp)
c.*812C>A (n.*812C>A)
c.1095C>A (n.1095C>A)
c.*777C>A (n.*777C>A)
c.1358C>A (p.Ala453Asp)
c.*638C>A (n.*638C>A)
c.1466C>A (p.Ala489Asp)
c.788C>A (p.Ala263Asp)
c.1373C>A (p.Ala458Asp)
c.1242C>A (n.1242C>A)
c.50C>A (p.Ala17Asp)
c.623C>A (p.Ala208Asp)
c.1301C>A (p.Ala434Asp)
c.1424C>A (p.Ala475Asp)
c.698C>A (p.Ala233Asp)
c.1304C>A (p.Ala435Asp)
n.2423+2790G>T
n.1663C>A
10g.18539279C>GCA376071230CACNB2,NSUN6c.1394C>G (p.Ala465Gly)
c.1259C>G (p.Ala420Gly)
c.1382C>G (p.Ala461Gly)
c.1454C>G (p.Ala485Gly)
c.1538C>G (p.Ala513Gly)
c.1376C>G (p.Ala459Gly)
c.1163C>G (p.Ala388Gly)
c.1340C>G (p.Ala447Gly)
c.*679C>G (n.*679C>G)
c.1280C>G (p.Ala427Gly)
c.*812C>G (n.*812C>G)
c.1095C>G (n.1095C>G)
c.*777C>G (n.*777C>G)
c.1358C>G (p.Ala453Gly)
c.*638C>G (n.*638C>G)
c.1466C>G (p.Ala489Gly)
c.788C>G (p.Ala263Gly)
c.1373C>G (p.Ala458Gly)
c.1242C>G (n.1242C>G)
c.50C>G (p.Ala17Gly)
c.623C>G (p.Ala208Gly)
c.1301C>G (p.Ala434Gly)
c.1424C>G (p.Ala475Gly)
c.698C>G (p.Ala233Gly)
c.1304C>G (p.Ala435Gly)
n.2423+2790G>C
n.1663C>G
10g.18539279C>TCA376071232CACNB2,NSUN6c.1394C>T (p.Ala465Val)
c.1259C>T (p.Ala420Val)
c.1382C>T (p.Ala461Val)
c.1454C>T (p.Ala485Val)
c.1538C>T (p.Ala513Val)
c.1376C>T (p.Ala459Val)
c.1163C>T (p.Ala388Val)
c.1340C>T (p.Ala447Val)
c.*679C>T (n.*679C>T)
c.1280C>T (p.Ala427Val)
c.*812C>T (n.*812C>T)
c.1095C>T (n.1095C>T)
c.*777C>T (n.*777C>T)
c.1358C>T (p.Ala453Val)
c.*638C>T (n.*638C>T)
c.1466C>T (p.Ala489Val)
c.788C>T (p.Ala263Val)
c.1373C>T (p.Ala458Val)
c.1242C>T (n.1242C>T)
c.50C>T (p.Ala17Val)
c.623C>T (p.Ala208Val)
c.1301C>T (p.Ala434Val)
c.1424C>T (p.Ala475Val)
c.698C>T (p.Ala233Val)
c.1304C>T (p.Ala435Val)
n.2423+2790G>A
n.1663C>T
 gnomAD v4
10g.18539280T>ACA468440530CACNB2,NSUN6c.1395T>A (p.Ala465=)
c.1260T>A (p.Ala420=)
c.1383T>A (p.Ala461=)
c.1455T>A (p.Ala485=)
c.1539T>A (p.Ala513=)
c.1377T>A (p.Ala459=)
c.1164T>A (p.Ala388=)
c.1341T>A (p.Ala447=)
c.*680T>A (n.*680T>A)
c.1281T>A (p.Ala427=)
c.*813T>A (n.*813T>A)
c.1096T>A (n.1096T>A)
c.*778T>A (n.*778T>A)
c.1359T>A (p.Ala453=)
c.*639T>A (n.*639T>A)
c.1467T>A (p.Ala489=)
c.789T>A (p.Ala263=)
c.1374T>A (p.Ala458=)
c.1243T>A (n.1243T>A)
c.51T>A (p.Ala17=)
c.624T>A (p.Ala208=)
c.1302T>A (p.Ala434=)
c.1425T>A (p.Ala475=)
c.699T>A (p.Ala233=)
c.1305T>A (p.Ala435=)
n.2423+2789A>T
n.1664T>A
 gnomAD v4
10g.18539280T>CCA5430092CACNB2,NSUN6c.1395T>C (p.Ala465=)
c.1260T>C (p.Ala420=)
c.1383T>C (p.Ala461=)
c.1455T>C (p.Ala485=)
c.1539T>C (p.Ala513=)
c.1377T>C (p.Ala459=)
c.1164T>C (p.Ala388=)
c.1341T>C (p.Ala447=)
c.*680T>C (n.*680T>C)
c.1281T>C (p.Ala427=)
c.*813T>C (n.*813T>C)
c.1096T>C (n.1096T>C)
c.*778T>C (n.*778T>C)
c.1359T>C (p.Ala453=)
c.*639T>C (n.*639T>C)
c.1467T>C (p.Ala489=)
c.789T>C (p.Ala263=)
c.1374T>C (p.Ala458=)
c.1243T>C (n.1243T>C)
c.51T>C (p.Ala17=)
c.624T>C (p.Ala208=)
c.1302T>C (p.Ala434=)
c.1425T>C (p.Ala475=)
c.699T>C (p.Ala233=)
c.1305T>C (p.Ala435=)
n.2423+2789A>G
n.1664T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539280T>GCA468440531CACNB2,NSUN6c.1395T>G (p.Ala465=)
c.1260T>G (p.Ala420=)
c.1383T>G (p.Ala461=)
c.1455T>G (p.Ala485=)
c.1539T>G (p.Ala513=)
c.1377T>G (p.Ala459=)
c.1164T>G (p.Ala388=)
c.1341T>G (p.Ala447=)
c.*680T>G (n.*680T>G)
c.1281T>G (p.Ala427=)
c.*813T>G (n.*813T>G)
c.1096T>G (n.1096T>G)
c.*778T>G (n.*778T>G)
c.1359T>G (p.Ala453=)
c.*639T>G (n.*639T>G)
c.1467T>G (p.Ala489=)
c.789T>G (p.Ala263=)
c.1374T>G (p.Ala458=)
c.1243T>G (n.1243T>G)
c.51T>G (p.Ala17=)
c.624T>G (p.Ala208=)
c.1302T>G (p.Ala434=)
c.1425T>G (p.Ala475=)
c.699T>G (p.Ala233=)
c.1305T>G (p.Ala435=)
n.2423+2789A>C
n.1664T>G
10g.18539280T=CA1894172847CACNB2,NSUN6c.1395T= (p.Ala465=)
c.1260T= (p.Ala420=)
c.1383T= (p.Ala461=)
c.1455T= (p.Ala485=)
c.1539T= (p.Ala513=)
c.1377T= (p.Ala459=)
c.1164T= (p.Ala388=)
c.1341T= (p.Ala447=)
c.*680T= (n.*680T=)
c.1281T= (p.Ala427=)
c.*813T= (n.*813T=)
c.1096T= (n.1096T=)
c.*778T= (n.*778T=)
c.1359T= (p.Ala453=)
c.*639T= (n.*639T=)
c.1467T= (p.Ala489=)
c.789T= (p.Ala263=)
c.1374T= (p.Ala458=)
c.1243T= (n.1243T=)
c.51T= (p.Ala17=)
c.624T= (p.Ala208=)
c.1302T= (p.Ala434=)
c.1425T= (p.Ala475=)
c.699T= (p.Ala233=)
c.1305T= (p.Ala435=)
n.2423+2789A=
n.1664T=
10g.18539281T>ACA376071234CACNB2,NSUN6c.1396T>A (p.Ser466Thr)
c.1261T>A (p.Ser421Thr)
c.1384T>A (p.Ser462Thr)
c.1456T>A (p.Ser486Thr)
c.1540T>A (p.Ser514Thr)
c.1378T>A (p.Ser460Thr)
c.1165T>A (p.Ser389Thr)
c.1342T>A (p.Ser448Thr)
c.*681T>A (n.*681T>A)
c.1282T>A (p.Ser428Thr)
c.*814T>A (n.*814T>A)
c.1097T>A (n.1097T>A)
c.*779T>A (n.*779T>A)
c.1360T>A (p.Ser454Thr)
c.*640T>A (n.*640T>A)
c.1468T>A (p.Ser490Thr)
c.790T>A (p.Ser264Thr)
c.1375T>A (p.Ser459Thr)
c.1244T>A (n.1244T>A)
c.52T>A (p.Ser18Thr)
c.625T>A (p.Ser209Thr)
c.1303T>A (p.Ser435Thr)
c.1426T>A (p.Ser476Thr)
c.700T>A (p.Ser234Thr)
c.1306T>A (p.Ser436Thr)
n.2423+2788A>T
n.1665T>A
10g.18539281T>CCA376071236CACNB2,NSUN6c.1396T>C (p.Ser466Pro)
c.1261T>C (p.Ser421Pro)
c.1384T>C (p.Ser462Pro)
c.1456T>C (p.Ser486Pro)
c.1540T>C (p.Ser514Pro)
c.1378T>C (p.Ser460Pro)
c.1165T>C (p.Ser389Pro)
c.1342T>C (p.Ser448Pro)
c.*681T>C (n.*681T>C)
c.1282T>C (p.Ser428Pro)
c.*814T>C (n.*814T>C)
c.1097T>C (n.1097T>C)
c.*779T>C (n.*779T>C)
c.1360T>C (p.Ser454Pro)
c.*640T>C (n.*640T>C)
c.1468T>C (p.Ser490Pro)
c.790T>C (p.Ser264Pro)
c.1375T>C (p.Ser459Pro)
c.1244T>C (n.1244T>C)
c.52T>C (p.Ser18Pro)
c.625T>C (p.Ser209Pro)
c.1303T>C (p.Ser435Pro)
c.1426T>C (p.Ser476Pro)
c.700T>C (p.Ser234Pro)
c.1306T>C (p.Ser436Pro)
n.2423+2788A>G
n.1665T>C
10g.18539281T>GCA376071238CACNB2,NSUN6c.1396T>G (p.Ser466Ala)
c.1261T>G (p.Ser421Ala)
c.1384T>G (p.Ser462Ala)
c.1456T>G (p.Ser486Ala)
c.1540T>G (p.Ser514Ala)
c.1378T>G (p.Ser460Ala)
c.1165T>G (p.Ser389Ala)
c.1342T>G (p.Ser448Ala)
c.*681T>G (n.*681T>G)
c.1282T>G (p.Ser428Ala)
c.*814T>G (n.*814T>G)
c.1097T>G (n.1097T>G)
c.*779T>G (n.*779T>G)
c.1360T>G (p.Ser454Ala)
c.*640T>G (n.*640T>G)
c.1468T>G (p.Ser490Ala)
c.790T>G (p.Ser264Ala)
c.1375T>G (p.Ser459Ala)
c.1244T>G (n.1244T>G)
c.52T>G (p.Ser18Ala)
c.625T>G (p.Ser209Ala)
c.1303T>G (p.Ser435Ala)
c.1426T>G (p.Ser476Ala)
c.700T>G (p.Ser234Ala)
c.1306T>G (p.Ser436Ala)
n.2423+2788A>C
n.1665T>G
10g.18539282C>ACA376071239CACNB2,NSUN6c.1397C>A (p.Ser466Tyr)
c.1262C>A (p.Ser421Tyr)
c.1385C>A (p.Ser462Tyr)
c.1457C>A (p.Ser486Tyr)
c.1541C>A (p.Ser514Tyr)
c.1379C>A (p.Ser460Tyr)
c.1166C>A (p.Ser389Tyr)
c.1343C>A (p.Ser448Tyr)
c.*682C>A (n.*682C>A)
c.1283C>A (p.Ser428Tyr)
c.*815C>A (n.*815C>A)
c.1098C>A (n.1098C>A)
c.*780C>A (n.*780C>A)
c.1361C>A (p.Ser454Tyr)
c.*641C>A (n.*641C>A)
c.1469C>A (p.Ser490Tyr)
c.791C>A (p.Ser264Tyr)
c.1376C>A (p.Ser459Tyr)
c.1245C>A (n.1245C>A)
c.53C>A (p.Ser18Tyr)
c.626C>A (p.Ser209Tyr)
c.1304C>A (p.Ser435Tyr)
c.1427C>A (p.Ser476Tyr)
c.701C>A (p.Ser234Tyr)
c.1307C>A (p.Ser436Tyr)
n.2423+2787G>T
n.1666C>A
10g.18539282C=CA1894172851CACNB2,NSUN6c.1397C= (p.Ser466=)
c.1262C= (p.Ser421=)
c.1385C= (p.Ser462=)
c.1457C= (p.Ser486=)
c.1541C= (p.Ser514=)
c.1379C= (p.Ser460=)
c.1166C= (p.Ser389=)
c.1343C= (p.Ser448=)
c.*682C= (n.*682C=)
c.1283C= (p.Ser428=)
c.*815C= (n.*815C=)
c.1098C= (n.1098C=)
c.*780C= (n.*780C=)
c.1361C= (p.Ser454=)
c.*641C= (n.*641C=)
c.1469C= (p.Ser490=)
c.791C= (p.Ser264=)
c.1376C= (p.Ser459=)
c.1245C= (n.1245C=)
c.53C= (p.Ser18=)
c.626C= (p.Ser209=)
c.1304C= (p.Ser435=)
c.1427C= (p.Ser476=)
c.701C= (p.Ser234=)
c.1307C= (p.Ser436=)
n.2423+2787G=
n.1666C=
10g.18539282C>GCA376071241CACNB2,NSUN6c.1397C>G (p.Ser466Cys)
c.1262C>G (p.Ser421Cys)
c.1385C>G (p.Ser462Cys)
c.1457C>G (p.Ser486Cys)
c.1541C>G (p.Ser514Cys)
c.1379C>G (p.Ser460Cys)
c.1166C>G (p.Ser389Cys)
c.1343C>G (p.Ser448Cys)
c.*682C>G (n.*682C>G)
c.1283C>G (p.Ser428Cys)
c.*815C>G (n.*815C>G)
c.1098C>G (n.1098C>G)
c.*780C>G (n.*780C>G)
c.1361C>G (p.Ser454Cys)
c.*641C>G (n.*641C>G)
c.1469C>G (p.Ser490Cys)
c.791C>G (p.Ser264Cys)
c.1376C>G (p.Ser459Cys)
c.1245C>G (n.1245C>G)
c.53C>G (p.Ser18Cys)
c.626C>G (p.Ser209Cys)
c.1304C>G (p.Ser435Cys)
c.1427C>G (p.Ser476Cys)
c.701C>G (p.Ser234Cys)
c.1307C>G (p.Ser436Cys)
n.2423+2787G>C
n.1666C>G
10g.18539282C>TCA376071242CACNB2,NSUN6c.1397C>T (p.Ser466Phe)
c.1262C>T (p.Ser421Phe)
c.1385C>T (p.Ser462Phe)
c.1457C>T (p.Ser486Phe)
c.1541C>T (p.Ser514Phe)
c.1379C>T (p.Ser460Phe)
c.1166C>T (p.Ser389Phe)
c.1343C>T (p.Ser448Phe)
c.*682C>T (n.*682C>T)
c.1283C>T (p.Ser428Phe)
c.*815C>T (n.*815C>T)
c.1098C>T (n.1098C>T)
c.*780C>T (n.*780C>T)
c.1361C>T (p.Ser454Phe)
c.*641C>T (n.*641C>T)
c.1469C>T (p.Ser490Phe)
c.791C>T (p.Ser264Phe)
c.1376C>T (p.Ser459Phe)
c.1245C>T (n.1245C>T)
c.53C>T (p.Ser18Phe)
c.626C>T (p.Ser209Phe)
c.1304C>T (p.Ser435Phe)
c.1427C>T (p.Ser476Phe)
c.701C>T (p.Ser234Phe)
c.1307C>T (p.Ser436Phe)
n.2423+2787G>A
n.1666C>T
 dbSNP
10g.18539283C>ACA468440534CACNB2,NSUN6c.1398C>A (p.Ser466=)
c.1263C>A (p.Ser421=)
c.1386C>A (p.Ser462=)
c.1458C>A (p.Ser486=)
c.1542C>A (p.Ser514=)
c.1380C>A (p.Ser460=)
c.1167C>A (p.Ser389=)
c.1344C>A (p.Ser448=)
c.*683C>A (n.*683C>A)
c.1284C>A (p.Ser428=)
c.*816C>A (n.*816C>A)
c.1099C>A (n.1099C>A)
c.*781C>A (n.*781C>A)
c.1362C>A (p.Ser454=)
c.*642C>A (n.*642C>A)
c.1470C>A (p.Ser490=)
c.792C>A (p.Ser264=)
c.1377C>A (p.Ser459=)
c.1246C>A (n.1246C>A)
c.54C>A (p.Ser18=)
c.627C>A (p.Ser209=)
c.1305C>A (p.Ser435=)
c.1428C>A (p.Ser476=)
c.702C>A (p.Ser234=)
c.1308C>A (p.Ser436=)
n.2423+2786G>T
n.1667C>A
10g.18539283C>GCA468440536CACNB2,NSUN6c.1398C>G (p.Ser466=)
c.1263C>G (p.Ser421=)
c.1386C>G (p.Ser462=)
c.1458C>G (p.Ser486=)
c.1542C>G (p.Ser514=)
c.1380C>G (p.Ser460=)
c.1167C>G (p.Ser389=)
c.1344C>G (p.Ser448=)
c.*683C>G (n.*683C>G)
c.1284C>G (p.Ser428=)
c.*816C>G (n.*816C>G)
c.1099C>G (n.1099C>G)
c.*781C>G (n.*781C>G)
c.1362C>G (p.Ser454=)
c.*642C>G (n.*642C>G)
c.1470C>G (p.Ser490=)
c.792C>G (p.Ser264=)
c.1377C>G (p.Ser459=)
c.1246C>G (n.1246C>G)
c.54C>G (p.Ser18=)
c.627C>G (p.Ser209=)
c.1305C>G (p.Ser435=)
c.1428C>G (p.Ser476=)
c.702C>G (p.Ser234=)
c.1308C>G (p.Ser436=)
n.2423+2786G>C
n.1667C>G
10g.18539283C>TCA468440535CACNB2,NSUN6c.1398C>T (p.Ser466=)
c.1263C>T (p.Ser421=)
c.1386C>T (p.Ser462=)
c.1458C>T (p.Ser486=)
c.1542C>T (p.Ser514=)
c.1380C>T (p.Ser460=)
c.1167C>T (p.Ser389=)
c.1344C>T (p.Ser448=)
c.*683C>T (n.*683C>T)
c.1284C>T (p.Ser428=)
c.*816C>T (n.*816C>T)
c.1099C>T (n.1099C>T)
c.*781C>T (n.*781C>T)
c.1362C>T (p.Ser454=)
c.*642C>T (n.*642C>T)
c.1470C>T (p.Ser490=)
c.792C>T (p.Ser264=)
c.1377C>T (p.Ser459=)
c.1246C>T (n.1246C>T)
c.54C>T (p.Ser18=)
c.627C>T (p.Ser209=)
c.1305C>T (p.Ser435=)
c.1428C>T (p.Ser476=)
c.702C>T (p.Ser234=)
c.1308C>T (p.Ser436=)
n.2423+2786G>A
n.1667C>T
10g.18539284C>ACA376071244CACNB2,NSUN6c.1399C>A (p.Gln467Lys)
c.1264C>A (p.Gln422Lys)
c.1387C>A (p.Gln463Lys)
c.1459C>A (p.Gln487Lys)
c.1543C>A (p.Gln515Lys)
c.1381C>A (p.Gln461Lys)
c.1168C>A (p.Gln390Lys)
c.1345C>A (p.Gln449Lys)
c.*684C>A (n.*684C>A)
c.1285C>A (p.Gln429Lys)
c.*817C>A (n.*817C>A)
c.1100C>A (n.1100C>A)
c.*782C>A (n.*782C>A)
c.1363C>A (p.Gln455Lys)
c.*643C>A (n.*643C>A)
c.1471C>A (p.Gln491Lys)
c.793C>A (p.Gln265Lys)
c.1378C>A (p.Gln460Lys)
c.1247C>A (n.1247C>A)
c.55C>A (p.Gln19Lys)
c.628C>A (p.Gln210Lys)
c.1306C>A (p.Gln436Lys)
c.1429C>A (p.Gln477Lys)
c.703C>A (p.Gln235Lys)
c.1309C>A (p.Gln437Lys)
n.2423+2785G>T
n.1668C>A
10g.18539284C=CA1894172860CACNB2,NSUN6c.1399C= (p.Gln467=)
c.1264C= (p.Gln422=)
c.1387C= (p.Gln463=)
c.1459C= (p.Gln487=)
c.1543C= (p.Gln515=)
c.1381C= (p.Gln461=)
c.1168C= (p.Gln390=)
c.1345C= (p.Gln449=)
c.*684C= (n.*684C=)
c.1285C= (p.Gln429=)
c.*817C= (n.*817C=)
c.1100C= (n.1100C=)
c.*782C= (n.*782C=)
c.1363C= (p.Gln455=)
c.*643C= (n.*643C=)
c.1471C= (p.Gln491=)
c.793C= (p.Gln265=)
c.1378C= (p.Gln460=)
c.1247C= (n.1247C=)
c.55C= (p.Gln19=)
c.628C= (p.Gln210=)
c.1306C= (p.Gln436=)
c.1429C= (p.Gln477=)
c.703C= (p.Gln235=)
c.1309C= (p.Gln437=)
n.2423+2785G=
n.1668C=
10g.18539284C>GCA376071245CACNB2,NSUN6c.1399C>G (p.Gln467Glu)
c.1264C>G (p.Gln422Glu)
c.1387C>G (p.Gln463Glu)
c.1459C>G (p.Gln487Glu)
c.1543C>G (p.Gln515Glu)
c.1381C>G (p.Gln461Glu)
c.1168C>G (p.Gln390Glu)
c.1345C>G (p.Gln449Glu)
c.*684C>G (n.*684C>G)
c.1285C>G (p.Gln429Glu)
c.*817C>G (n.*817C>G)
c.1100C>G (n.1100C>G)
c.*782C>G (n.*782C>G)
c.1363C>G (p.Gln455Glu)
c.*643C>G (n.*643C>G)
c.1471C>G (p.Gln491Glu)
c.793C>G (p.Gln265Glu)
c.1378C>G (p.Gln460Glu)
c.1247C>G (n.1247C>G)
c.55C>G (p.Gln19Glu)
c.628C>G (p.Gln210Glu)
c.1306C>G (p.Gln436Glu)
c.1429C>G (p.Gln477Glu)
c.703C>G (p.Gln235Glu)
c.1309C>G (p.Gln437Glu)
n.2423+2785G>C
n.1668C>G
10g.18539284C>TCA376071247CACNB2,NSUN6c.1399C>T (p.Gln467Ter)
c.1264C>T (p.Gln422Ter)
c.1387C>T (p.Gln463Ter)
c.1459C>T (p.Gln487Ter)
c.1543C>T (p.Gln515Ter)
c.1381C>T (p.Gln461Ter)
c.1168C>T (p.Gln390Ter)
c.1345C>T (p.Gln449Ter)
c.*684C>T (n.*684C>T)
c.1285C>T (p.Gln429Ter)
c.*817C>T (n.*817C>T)
c.1100C>T (n.1100C>T)
c.*782C>T (n.*782C>T)
c.1363C>T (p.Gln455Ter)
c.*643C>T (n.*643C>T)
c.1471C>T (p.Gln491Ter)
c.793C>T (p.Gln265Ter)
c.1378C>T (p.Gln460Ter)
c.1247C>T (n.1247C>T)
c.55C>T (p.Gln19Ter)
c.628C>T (p.Gln210Ter)
c.1306C>T (p.Gln436Ter)
c.1429C>T (p.Gln477Ter)
c.703C>T (p.Gln235Ter)
c.1309C>T (p.Gln437Ter)
n.2423+2785G>A
n.1668C>T
10g.18539285A>CCA376071252CACNB2,NSUN6c.1400A>C (p.Gln467Pro)
c.1265A>C (p.Gln422Pro)
c.1388A>C (p.Gln463Pro)
c.1460A>C (p.Gln487Pro)
c.1544A>C (p.Gln515Pro)
c.1382A>C (p.Gln461Pro)
c.1169A>C (p.Gln390Pro)
c.1346A>C (p.Gln449Pro)
c.*685A>C (n.*685A>C)
c.1286A>C (p.Gln429Pro)
c.*818A>C (n.*818A>C)
c.1101A>C (n.1101A>C)
c.*783A>C (n.*783A>C)
c.1364A>C (p.Gln455Pro)
c.*644A>C (n.*644A>C)
c.1472A>C (p.Gln491Pro)
c.794A>C (p.Gln265Pro)
c.1379A>C (p.Gln460Pro)
c.1248A>C (n.1248A>C)
c.56A>C (p.Gln19Pro)
c.629A>C (p.Gln210Pro)
c.1307A>C (p.Gln436Pro)
c.1430A>C (p.Gln477Pro)
c.704A>C (p.Gln235Pro)
c.1310A>C (p.Gln437Pro)
n.2423+2784T>G
n.1669A>C
 gnomAD v4
10g.18539285A>GCA376071249CACNB2,NSUN6c.1400A>G (p.Gln467Arg)
c.1265A>G (p.Gln422Arg)
c.1388A>G (p.Gln463Arg)
c.1460A>G (p.Gln487Arg)
c.1544A>G (p.Gln515Arg)
c.1382A>G (p.Gln461Arg)
c.1169A>G (p.Gln390Arg)
c.1346A>G (p.Gln449Arg)
c.*685A>G (n.*685A>G)
c.1286A>G (p.Gln429Arg)
c.*818A>G (n.*818A>G)
c.1101A>G (n.1101A>G)
c.*783A>G (n.*783A>G)
c.1364A>G (p.Gln455Arg)
c.*644A>G (n.*644A>G)
c.1472A>G (p.Gln491Arg)
c.794A>G (p.Gln265Arg)
c.1379A>G (p.Gln460Arg)
c.1248A>G (n.1248A>G)
c.56A>G (p.Gln19Arg)
c.629A>G (p.Gln210Arg)
c.1307A>G (p.Gln436Arg)
c.1430A>G (p.Gln477Arg)
c.704A>G (p.Gln235Arg)
c.1310A>G (p.Gln437Arg)
n.2423+2784T>C
n.1669A>G
10g.18539285A>TCA376071251CACNB2,NSUN6c.1400A>T (p.Gln467Leu)
c.1265A>T (p.Gln422Leu)
c.1388A>T (p.Gln463Leu)
c.1460A>T (p.Gln487Leu)
c.1544A>T (p.Gln515Leu)
c.1382A>T (p.Gln461Leu)
c.1169A>T (p.Gln390Leu)
c.1346A>T (p.Gln449Leu)
c.*685A>T (n.*685A>T)
c.1286A>T (p.Gln429Leu)
c.*818A>T (n.*818A>T)
c.1101A>T (n.1101A>T)
c.*783A>T (n.*783A>T)
c.1364A>T (p.Gln455Leu)
c.*644A>T (n.*644A>T)
c.1472A>T (p.Gln491Leu)
c.794A>T (p.Gln265Leu)
c.1379A>T (p.Gln460Leu)
c.1248A>T (n.1248A>T)
c.56A>T (p.Gln19Leu)
c.629A>T (p.Gln210Leu)
c.1307A>T (p.Gln436Leu)
c.1430A>T (p.Gln477Leu)
c.704A>T (p.Gln235Leu)
c.1310A>T (p.Gln437Leu)
n.2423+2784T>A
n.1669A>T
10g.18539288_18539293dupCA5430093CACNB2,NSUN6c.1403_1408dup (p.Glu469_Glu470insAlaGlu)
c.1268_1273dup (p.Glu424_Glu425insAlaGlu)
c.1391_1396dup (p.Glu465_Glu466insAlaGlu)
c.1463_1468dup (p.Glu489_Glu490insAlaGlu)
c.1547_1552dup (p.Glu517_Glu518insAlaGlu)
c.1385_1390dup (p.Glu463_Glu464insAlaGlu)
c.1172_1177dup (p.Glu392_Glu393insAlaGlu)
c.1349_1354dup (p.Glu451_Glu452insAlaGlu)
c.*688_*693dup (n.*688_*693dup)
c.1289_1294dup (p.Glu431_Glu432insAlaGlu)
c.*821_*826dup (n.*821_*826dup)
c.1104_1109dup (n.1104_1109dup)
c.*786_*791dup (n.*786_*791dup)
c.1367_1372dup (p.Glu457_Glu458insAlaGlu)
c.*647_*652dup (n.*647_*652dup)
c.1475_1480dup (p.Glu493_Glu494insAlaGlu)
c.797_802dup (p.Glu267_Glu268insAlaGlu)
c.1382_1387dup (p.Glu462_Glu463insAlaGlu)
c.1251_1256dup (n.1251_1256dup)
c.59_64dup (p.Glu21_Glu22insAlaGlu)
c.632_637dup (p.Glu212_Glu213insAlaGlu)
c.1310_1315dup (p.Glu438_Glu439insAlaGlu)
c.1433_1438dup (p.Glu479_Glu480insAlaGlu)
c.707_712dup (p.Glu237_Glu238insAlaGlu)
c.1313_1318dup (p.Glu439_Glu440insAlaGlu)
n.2423+2779_2423+2784dup
n.1672_1677dup
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539286A=CA1894172874CACNB2,NSUN6c.1401A= (p.Gln467=)
c.1266A= (p.Gln422=)
c.1389A= (p.Gln463=)
c.1461A= (p.Gln487=)
c.1545A= (p.Gln515=)
c.1383A= (p.Gln461=)
c.1170A= (p.Gln390=)
c.1347A= (p.Gln449=)
c.*686A= (n.*686A=)
c.1287A= (p.Gln429=)
c.*819A= (n.*819A=)
c.1102A= (n.1102A=)
c.*784A= (n.*784A=)
c.1365A= (p.Gln455=)
c.*645A= (n.*645A=)
c.1473A= (p.Gln491=)
c.795A= (p.Gln265=)
c.1380A= (p.Gln460=)
c.1249A= (n.1249A=)
c.57A= (p.Gln19=)
c.630A= (p.Gln210=)
c.1308A= (p.Gln436=)
c.1431A= (p.Gln477=)
c.705A= (p.Gln235=)
c.1311A= (p.Gln437=)
n.2423+2783T=
n.1670A=
10g.18539286A>CCA376071255CACNB2,NSUN6c.1401A>C (p.Gln467His)
c.1266A>C (p.Gln422His)
c.1389A>C (p.Gln463His)
c.1461A>C (p.Gln487His)
c.1545A>C (p.Gln515His)
c.1383A>C (p.Gln461His)
c.1170A>C (p.Gln390His)
c.1347A>C (p.Gln449His)
c.*686A>C (n.*686A>C)
c.1287A>C (p.Gln429His)
c.*819A>C (n.*819A>C)
c.1102A>C (n.1102A>C)
c.*784A>C (n.*784A>C)
c.1365A>C (p.Gln455His)
c.*645A>C (n.*645A>C)
c.1473A>C (p.Gln491His)
c.795A>C (p.Gln265His)
c.1380A>C (p.Gln460His)
c.1249A>C (n.1249A>C)
c.57A>C (p.Gln19His)
c.630A>C (p.Gln210His)
c.1308A>C (p.Gln436His)
c.1431A>C (p.Gln477His)
c.705A>C (p.Gln235His)
c.1311A>C (p.Gln437His)
n.2423+2783T>G
n.1670A>C
10g.18539286A>GCA5430094CACNB2,NSUN6c.1401A>G (p.Gln467=)
c.1266A>G (p.Gln422=)
c.1389A>G (p.Gln463=)
c.1461A>G (p.Gln487=)
c.1545A>G (p.Gln515=)
c.1383A>G (p.Gln461=)
c.1170A>G (p.Gln390=)
c.1347A>G (p.Gln449=)
c.*686A>G (n.*686A>G)
c.1287A>G (p.Gln429=)
c.*819A>G (n.*819A>G)
c.1102A>G (n.1102A>G)
c.*784A>G (n.*784A>G)
c.1365A>G (p.Gln455=)
c.*645A>G (n.*645A>G)
c.1473A>G (p.Gln491=)
c.795A>G (p.Gln265=)
c.1380A>G (p.Gln460=)
c.1249A>G (n.1249A>G)
c.57A>G (p.Gln19=)
c.630A>G (p.Gln210=)
c.1308A>G (p.Gln436=)
c.1431A>G (p.Gln477=)
c.705A>G (p.Gln235=)
c.1311A>G (p.Gln437=)
n.2423+2783T>C
n.1670A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539286A>TCA376071257CACNB2,NSUN6c.1401A>T (p.Gln467His)
c.1266A>T (p.Gln422His)
c.1389A>T (p.Gln463His)
c.1461A>T (p.Gln487His)
c.1545A>T (p.Gln515His)
c.1383A>T (p.Gln461His)
c.1170A>T (p.Gln390His)
c.1347A>T (p.Gln449His)
c.*686A>T (n.*686A>T)
c.1287A>T (p.Gln429His)
c.*819A>T (n.*819A>T)
c.1102A>T (n.1102A>T)
c.*784A>T (n.*784A>T)
c.1365A>T (p.Gln455His)
c.*645A>T (n.*645A>T)
c.1473A>T (p.Gln491His)
c.795A>T (p.Gln265His)
c.1380A>T (p.Gln460His)
c.1249A>T (n.1249A>T)
c.57A>T (p.Gln19His)
c.630A>T (p.Gln210His)
c.1308A>T (p.Gln436His)
c.1431A>T (p.Gln477His)
c.705A>T (p.Gln235His)
c.1311A>T (p.Gln437His)
n.2423+2783T>A
n.1670A>T
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
10g.18539287G>ACA203167154CACNB2,NSUN6c.1402G>A (p.Ala468Thr)
c.1267G>A (p.Ala423Thr)
c.1390G>A (p.Ala464Thr)
c.1462G>A (p.Ala488Thr)
c.1546G>A (p.Ala516Thr)
c.1384G>A (p.Ala462Thr)
c.1171G>A (p.Ala391Thr)
c.1348G>A (p.Ala450Thr)
c.*687G>A (n.*687G>A)
c.1288G>A (p.Ala430Thr)
c.*820G>A (n.*820G>A)
c.1103G>A (n.1103G>A)
c.*785G>A (n.*785G>A)
c.1366G>A (p.Ala456Thr)
c.*646G>A (n.*646G>A)
c.1474G>A (p.Ala492Thr)
c.796G>A (p.Ala266Thr)
c.1381G>A (p.Ala461Thr)
c.1250G>A (n.1250G>A)
c.58G>A (p.Ala20Thr)
c.631G>A (p.Ala211Thr)
c.1309G>A (p.Ala437Thr)
c.1432G>A (p.Ala478Thr)
c.706G>A (p.Ala236Thr)
c.1312G>A (p.Ala438Thr)
n.2423+2782C>T
n.1671G>A
 dbSNP gnomAD v4
10g.18539287G>CCA376071260CACNB2,NSUN6c.1402G>C (p.Ala468Pro)
c.1267G>C (p.Ala423Pro)
c.1390G>C (p.Ala464Pro)
c.1462G>C (p.Ala488Pro)
c.1546G>C (p.Ala516Pro)
c.1384G>C (p.Ala462Pro)
c.1171G>C (p.Ala391Pro)
c.1348G>C (p.Ala450Pro)
c.*687G>C (n.*687G>C)
c.1288G>C (p.Ala430Pro)
c.*820G>C (n.*820G>C)
c.1103G>C (n.1103G>C)
c.*785G>C (n.*785G>C)
c.1366G>C (p.Ala456Pro)
c.*646G>C (n.*646G>C)
c.1474G>C (p.Ala492Pro)
c.796G>C (p.Ala266Pro)
c.1381G>C (p.Ala461Pro)
c.1250G>C (n.1250G>C)
c.58G>C (p.Ala20Pro)
c.631G>C (p.Ala211Pro)
c.1309G>C (p.Ala437Pro)
c.1432G>C (p.Ala478Pro)
c.706G>C (p.Ala236Pro)
c.1312G>C (p.Ala438Pro)
n.2423+2782C>G
n.1671G>C
10g.18539287G=CA1894172877CACNB2,NSUN6c.1402G= (p.Ala468=)
c.1267G= (p.Ala423=)
c.1390G= (p.Ala464=)
c.1462G= (p.Ala488=)
c.1546G= (p.Ala516=)
c.1384G= (p.Ala462=)
c.1171G= (p.Ala391=)
c.1348G= (p.Ala450=)
c.*687G= (n.*687G=)
c.1288G= (p.Ala430=)
c.*820G= (n.*820G=)
c.1103G= (n.1103G=)
c.*785G= (n.*785G=)
c.1366G= (p.Ala456=)
c.*646G= (n.*646G=)
c.1474G= (p.Ala492=)
c.796G= (p.Ala266=)
c.1381G= (p.Ala461=)
c.1250G= (n.1250G=)
c.58G= (p.Ala20=)
c.631G= (p.Ala211=)
c.1309G= (p.Ala437=)
c.1432G= (p.Ala478=)
c.706G= (p.Ala236=)
c.1312G= (p.Ala438=)
n.2423+2782C=
n.1671G=
10g.18539287G>TCA376071261CACNB2,NSUN6c.1402G>T (p.Ala468Ser)
c.1267G>T (p.Ala423Ser)
c.1390G>T (p.Ala464Ser)
c.1462G>T (p.Ala488Ser)
c.1546G>T (p.Ala516Ser)
c.1384G>T (p.Ala462Ser)
c.1171G>T (p.Ala391Ser)
c.1348G>T (p.Ala450Ser)
c.*687G>T (n.*687G>T)
c.1288G>T (p.Ala430Ser)
c.*820G>T (n.*820G>T)
c.1103G>T (n.1103G>T)
c.*785G>T (n.*785G>T)
c.1366G>T (p.Ala456Ser)
c.*646G>T (n.*646G>T)
c.1474G>T (p.Ala492Ser)
c.796G>T (p.Ala266Ser)
c.1381G>T (p.Ala461Ser)
c.1250G>T (n.1250G>T)
c.58G>T (p.Ala20Ser)
c.631G>T (p.Ala211Ser)
c.1309G>T (p.Ala437Ser)
c.1432G>T (p.Ala478Ser)
c.706G>T (p.Ala236Ser)
c.1312G>T (p.Ala438Ser)
n.2423+2782C>A
n.1671G>T
10g.18539288C>ACA376071263CACNB2,NSUN6c.1403C>A (p.Ala468Asp)
c.1268C>A (p.Ala423Asp)
c.1391C>A (p.Ala464Asp)
c.1463C>A (p.Ala488Asp)
c.1547C>A (p.Ala516Asp)
c.1385C>A (p.Ala462Asp)
c.1172C>A (p.Ala391Asp)
c.1349C>A (p.Ala450Asp)
c.*688C>A (n.*688C>A)
c.1289C>A (p.Ala430Asp)
c.*821C>A (n.*821C>A)
c.1104C>A (n.1104C>A)
c.*786C>A (n.*786C>A)
c.1367C>A (p.Ala456Asp)
c.*647C>A (n.*647C>A)
c.1475C>A (p.Ala492Asp)
c.797C>A (p.Ala266Asp)
c.1382C>A (p.Ala461Asp)
c.1251C>A (n.1251C>A)
c.59C>A (p.Ala20Asp)
c.632C>A (p.Ala211Asp)
c.1310C>A (p.Ala437Asp)
c.1433C>A (p.Ala478Asp)
c.707C>A (p.Ala236Asp)
c.1313C>A (p.Ala438Asp)
n.2423+2781G>T
n.1672C>A
10g.18539288C>GCA376071264CACNB2,NSUN6c.1403C>G (p.Ala468Gly)
c.1268C>G (p.Ala423Gly)
c.1391C>G (p.Ala464Gly)
c.1463C>G (p.Ala488Gly)
c.1547C>G (p.Ala516Gly)
c.1385C>G (p.Ala462Gly)
c.1172C>G (p.Ala391Gly)
c.1349C>G (p.Ala450Gly)
c.*688C>G (n.*688C>G)
c.1289C>G (p.Ala430Gly)
c.*821C>G (n.*821C>G)
c.1104C>G (n.1104C>G)
c.*786C>G (n.*786C>G)
c.1367C>G (p.Ala456Gly)
c.*647C>G (n.*647C>G)
c.1475C>G (p.Ala492Gly)
c.797C>G (p.Ala266Gly)
c.1382C>G (p.Ala461Gly)
c.1251C>G (n.1251C>G)
c.59C>G (p.Ala20Gly)
c.632C>G (p.Ala211Gly)
c.1310C>G (p.Ala437Gly)
c.1433C>G (p.Ala478Gly)
c.707C>G (p.Ala236Gly)
c.1313C>G (p.Ala438Gly)
n.2423+2781G>C
n.1672C>G
 gnomAD v4
10g.18539288C>TCA376071266CACNB2,NSUN6c.1403C>T (p.Ala468Val)
c.1268C>T (p.Ala423Val)
c.1391C>T (p.Ala464Val)
c.1463C>T (p.Ala488Val)
c.1547C>T (p.Ala516Val)
c.1385C>T (p.Ala462Val)
c.1172C>T (p.Ala391Val)
c.1349C>T (p.Ala450Val)
c.*688C>T (n.*688C>T)
c.1289C>T (p.Ala430Val)
c.*821C>T (n.*821C>T)
c.1104C>T (n.1104C>T)
c.*786C>T (n.*786C>T)
c.1367C>T (p.Ala456Val)
c.*647C>T (n.*647C>T)
c.1475C>T (p.Ala492Val)
c.797C>T (p.Ala266Val)
c.1382C>T (p.Ala461Val)
c.1251C>T (n.1251C>T)
c.59C>T (p.Ala20Val)
c.632C>T (p.Ala211Val)
c.1310C>T (p.Ala437Val)
c.1433C>T (p.Ala478Val)
c.707C>T (p.Ala236Val)
c.1313C>T (p.Ala438Val)
n.2423+2781G>A
n.1672C>T
10g.18539288_18539312dupCA2608435588CACNB2,NSUN6c.1403_1427dup (p.Val477Ter)
c.1268_1292dup (p.Val432Ter)
c.1391_1415dup (p.Val473Ter)
c.1463_1487dup (p.Val497Ter)
c.1547_1571dup (p.Val525Ter)
c.1385_1409dup (p.Val471Ter)
c.1172_1196dup (p.Val400Ter)
c.1349_1373dup (p.Val459Ter)
c.*688_*712dup (n.*688_*712dup)
c.1289_1313dup (p.Val439Ter)
c.*821_*845dup (n.*821_*845dup)
c.1104_1128dup (n.1104_1128dup)
c.*786_*810dup (n.*786_*810dup)
c.1367_1391dup (p.Val465Ter)
c.*647_*671dup (n.*647_*671dup)
c.1475_1499dup (p.Val501Ter)
c.797_821dup (p.Val275Ter)
c.1382_1406dup (p.Val470Ter)
c.1251_1275dup (n.1251_1275dup)
c.59_83dup (p.Val29Ter)
c.632_656dup (p.Val220Ter)
c.1310_1334dup (p.Val446Ter)
c.1433_1457dup (p.Val487Ter)
c.707_731dup (p.Val245Ter)
c.1313_1337dup (p.Val447Ter)
n.2423+2757_2423+2781dup
n.1672_1696dup
 gnomAD v4
10g.18539289T>ACA468627145CACNB2,NSUN6c.1404T>A (p.Ala468=)
c.1269T>A (p.Ala423=)
c.1392T>A (p.Ala464=)
c.1464T>A (p.Ala488=)
c.1548T>A (p.Ala516=)
c.1386T>A (p.Ala462=)
c.1173T>A (p.Ala391=)
c.1350T>A (p.Ala450=)
c.*689T>A (n.*689T>A)
c.1290T>A (p.Ala430=)
c.*822T>A (n.*822T>A)
c.1105T>A (n.1105T>A)
c.*787T>A (n.*787T>A)
c.1368T>A (p.Ala456=)
c.*648T>A (n.*648T>A)
c.1476T>A (p.Ala492=)
c.798T>A (p.Ala266=)
c.1383T>A (p.Ala461=)
c.1252T>A (n.1252T>A)
c.60T>A (p.Ala20=)
c.633T>A (p.Ala211=)
c.1311T>A (p.Ala437=)
c.1434T>A (p.Ala478=)
c.708T>A (p.Ala236=)
c.1314T>A (p.Ala438=)
n.2423+2780A>T
n.1673T>A
10g.18539289T>CCA468627154CACNB2,NSUN6c.1404T>C (p.Ala468=)
c.1269T>C (p.Ala423=)
c.1392T>C (p.Ala464=)
c.1464T>C (p.Ala488=)
c.1548T>C (p.Ala516=)
c.1386T>C (p.Ala462=)
c.1173T>C (p.Ala391=)
c.1350T>C (p.Ala450=)
c.*689T>C (n.*689T>C)
c.1290T>C (p.Ala430=)
c.*822T>C (n.*822T>C)
c.1105T>C (n.1105T>C)
c.*787T>C (n.*787T>C)
c.1368T>C (p.Ala456=)
c.*648T>C (n.*648T>C)
c.1476T>C (p.Ala492=)
c.798T>C (p.Ala266=)
c.1383T>C (p.Ala461=)
c.1252T>C (n.1252T>C)
c.60T>C (p.Ala20=)
c.633T>C (p.Ala211=)
c.1311T>C (p.Ala437=)
c.1434T>C (p.Ala478=)
c.708T>C (p.Ala236=)
c.1314T>C (p.Ala438=)
n.2423+2780A>G
n.1673T>C
10g.18539289T>GCA468627152CACNB2,NSUN6c.1404T>G (p.Ala468=)
c.1269T>G (p.Ala423=)
c.1392T>G (p.Ala464=)
c.1464T>G (p.Ala488=)
c.1548T>G (p.Ala516=)
c.1386T>G (p.Ala462=)
c.1173T>G (p.Ala391=)
c.1350T>G (p.Ala450=)
c.*689T>G (n.*689T>G)
c.1290T>G (p.Ala430=)
c.*822T>G (n.*822T>G)
c.1105T>G (n.1105T>G)
c.*787T>G (n.*787T>G)
c.1368T>G (p.Ala456=)
c.*648T>G (n.*648T>G)
c.1476T>G (p.Ala492=)
c.798T>G (p.Ala266=)
c.1383T>G (p.Ala461=)
c.1252T>G (n.1252T>G)
c.60T>G (p.Ala20=)
c.633T>G (p.Ala211=)
c.1311T>G (p.Ala437=)
c.1434T>G (p.Ala478=)
c.708T>G (p.Ala236=)
c.1314T>G (p.Ala438=)
n.2423+2780A>C
n.1673T>G
10g.18539289_18539292delinsTGAACA1894172879CACNB2,NSUN6c.1404_1407delinsTGAA (p.Ala468=)
c.1269_1272delinsTGAA (p.Ala423=)
c.1392_1395delinsTGAA (p.Ala464=)
c.1464_1467delinsTGAA (p.Ala488=)
c.1548_1551delinsTGAA (p.Ala516=)
c.1386_1389delinsTGAA (p.Ala462=)
c.1173_1176delinsTGAA (p.Ala391=)
c.1350_1353delinsTGAA (p.Ala450=)
c.*689_*692delinsTGAA (n.*689_*692delinsTGAA)
c.1290_1293delinsTGAA (p.Ala430=)
c.*822_*825delinsTGAA (n.*822_*825delinsTGAA)
c.1105_1108delinsTGAA (n.1105_1108delinsTGAA)
c.*787_*790delinsTGAA (n.*787_*790delinsTGAA)
c.1368_1371delinsTGAA (p.Ala456=)
c.*648_*651delinsTGAA (n.*648_*651delinsTGAA)
c.1476_1479delinsTGAA (p.Ala492=)
c.798_801delinsTGAA (p.Ala266=)
c.1383_1386delinsTGAA (p.Ala461=)
c.1252_1255delinsTGAA (n.1252_1255delinsTGAA)
c.60_63delinsTGAA (p.Ala20=)
c.633_636delinsTGAA (p.Ala211=)
c.1311_1314delinsTGAA (p.Ala437=)
c.1434_1437delinsTGAA (p.Ala478=)
c.708_711delinsTGAA (p.Ala236=)
c.1314_1317delinsTGAA (p.Ala438=)
n.2423+2777_2423+2780delinsTTCA
n.1673_1676delinsTGAA
10g.18539290G>ACA376071267CACNB2,NSUN6c.1405G>A (p.Glu469Lys)
c.1270G>A (p.Glu424Lys)
c.1393G>A (p.Glu465Lys)
c.1465G>A (p.Glu489Lys)
c.1549G>A (p.Glu517Lys)
c.1387G>A (p.Glu463Lys)
c.1174G>A (p.Glu392Lys)
c.1351G>A (p.Glu451Lys)
c.*690G>A (n.*690G>A)
c.1291G>A (p.Glu431Lys)
c.*823G>A (n.*823G>A)
c.1106G>A (n.1106G>A)
c.*788G>A (n.*788G>A)
c.1369G>A (p.Glu457Lys)
c.*649G>A (n.*649G>A)
c.1477G>A (p.Glu493Lys)
c.799G>A (p.Glu267Lys)
c.1384G>A (p.Glu462Lys)
c.1253G>A (n.1253G>A)
c.61G>A (p.Glu21Lys)
c.634G>A (p.Glu212Lys)
c.1312G>A (p.Glu438Lys)
c.1435G>A (p.Glu479Lys)
c.709G>A (p.Glu237Lys)
c.1315G>A (p.Glu439Lys)
n.2423+2779C>T
n.1674G>A
 gnomAD v4
10g.18539290G>CCA376071269CACNB2,NSUN6c.1405G>C (p.Glu469Gln)
c.1270G>C (p.Glu424Gln)
c.1393G>C (p.Glu465Gln)
c.1465G>C (p.Glu489Gln)
c.1549G>C (p.Glu517Gln)
c.1387G>C (p.Glu463Gln)
c.1174G>C (p.Glu392Gln)
c.1351G>C (p.Glu451Gln)
c.*690G>C (n.*690G>C)
c.1291G>C (p.Glu431Gln)
c.*823G>C (n.*823G>C)
c.1106G>C (n.1106G>C)
c.*788G>C (n.*788G>C)
c.1369G>C (p.Glu457Gln)
c.*649G>C (n.*649G>C)
c.1477G>C (p.Glu493Gln)
c.799G>C (p.Glu267Gln)
c.1384G>C (p.Glu462Gln)
c.1253G>C (n.1253G>C)
c.61G>C (p.Glu21Gln)
c.634G>C (p.Glu212Gln)
c.1312G>C (p.Glu438Gln)
c.1435G>C (p.Glu479Gln)
c.709G>C (p.Glu237Gln)
c.1315G>C (p.Glu439Gln)
n.2423+2779C>G
n.1674G>C
10g.18539290G=CA1894172885CACNB2,NSUN6c.1405G= (p.Glu469=)
c.1270G= (p.Glu424=)
c.1393G= (p.Glu465=)
c.1465G= (p.Glu489=)
c.1549G= (p.Glu517=)
c.1387G= (p.Glu463=)
c.1174G= (p.Glu392=)
c.1351G= (p.Glu451=)
c.*690G= (n.*690G=)
c.1291G= (p.Glu431=)
c.*823G= (n.*823G=)
c.1106G= (n.1106G=)
c.*788G= (n.*788G=)
c.1369G= (p.Glu457=)
c.*649G= (n.*649G=)
c.1477G= (p.Glu493=)
c.799G= (p.Glu267=)
c.1384G= (p.Glu462=)
c.1253G= (n.1253G=)
c.61G= (p.Glu21=)
c.634G= (p.Glu212=)
c.1312G= (p.Glu438=)
c.1435G= (p.Glu479=)
c.709G= (p.Glu237=)
c.1315G= (p.Glu439=)
n.2423+2779C=
n.1674G=
10g.18539290G>TCA376071270CACNB2,NSUN6c.1405G>T (p.Glu469Ter)
c.1270G>T (p.Glu424Ter)
c.1393G>T (p.Glu465Ter)
c.1465G>T (p.Glu489Ter)
c.1549G>T (p.Glu517Ter)
c.1387G>T (p.Glu463Ter)
c.1174G>T (p.Glu392Ter)
c.1351G>T (p.Glu451Ter)
c.*690G>T (n.*690G>T)
c.1291G>T (p.Glu431Ter)
c.*823G>T (n.*823G>T)
c.1106G>T (n.1106G>T)
c.*788G>T (n.*788G>T)
c.1369G>T (p.Glu457Ter)
c.*649G>T (n.*649G>T)
c.1477G>T (p.Glu493Ter)
c.799G>T (p.Glu267Ter)
c.1384G>T (p.Glu462Ter)
c.1253G>T (n.1253G>T)
c.61G>T (p.Glu21Ter)
c.634G>T (p.Glu212Ter)
c.1312G>T (p.Glu438Ter)
c.1435G>T (p.Glu479Ter)
c.709G>T (p.Glu237Ter)
c.1315G>T (p.Glu439Ter)
n.2423+2779C>A
n.1674G>T
 dbSNP gnomAD v4
10g.18539296_18539298delCA203167156CACNB2,NSUN6c.1411_1413del (p.Glu471del)
c.1276_1278del (p.Glu426del)
c.1399_1401del (p.Glu467del)
c.1471_1473del (p.Glu491del)
c.1555_1557del (p.Glu519del)
c.1393_1395del (p.Glu465del)
c.1180_1182del (p.Glu394del)
c.1357_1359del (p.Glu453del)
c.*696_*698del (n.*696_*698del)
c.1297_1299del (p.Glu433del)
c.*829_*831del (n.*829_*831del)
c.1112_1114del (n.1112_1114del)
c.*794_*796del (n.*794_*796del)
c.1375_1377del (p.Glu459del)
c.*655_*657del (n.*655_*657del)
c.1483_1485del (p.Glu495del)
c.805_807del (p.Glu269del)
c.1390_1392del (p.Glu464del)
c.1259_1261del (n.1259_1261del)
c.67_69del (p.Glu23del)
c.640_642del (p.Glu214del)
c.1318_1320del (p.Glu440del)
c.1441_1443del (p.Glu481del)
c.715_717del (p.Glu239del)
c.1321_1323del (p.Glu441del)
n.2423+2777_2423+2779del
n.1680_1682del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.18539291A=CA1894172892CACNB2,NSUN6c.1406A= (p.Glu469=)
c.1271A= (p.Glu424=)
c.1394A= (p.Glu465=)
c.1466A= (p.Glu489=)
c.1550A= (p.Glu517=)
c.1388A= (p.Glu463=)
c.1175A= (p.Glu392=)
c.1352A= (p.Glu451=)
c.*691A= (n.*691A=)
c.1292A= (p.Glu431=)
c.*824A= (n.*824A=)
c.1107A= (n.1107A=)
c.*789A= (n.*789A=)
c.1370A= (p.Glu457=)
c.*650A= (n.*650A=)
c.1478A= (p.Glu493=)
c.800A= (p.Glu267=)
c.1385A= (p.Glu462=)
c.1254A= (n.1254A=)
c.62A= (p.Glu21=)
c.635A= (p.Glu212=)
c.1313A= (p.Glu438=)
c.1436A= (p.Glu479=)
c.710A= (p.Glu237=)
c.1316A= (p.Glu439=)
n.2423+2778T=
n.1675A=
10g.18539291A>CCA5430095CACNB2,NSUN6c.1406A>C (p.Glu469Ala)
c.1271A>C (p.Glu424Ala)
c.1394A>C (p.Glu465Ala)
c.1466A>C (p.Glu489Ala)
c.1550A>C (p.Glu517Ala)
c.1388A>C (p.Glu463Ala)
c.1175A>C (p.Glu392Ala)
c.1352A>C (p.Glu451Ala)
c.*691A>C (n.*691A>C)
c.1292A>C (p.Glu431Ala)
c.*824A>C (n.*824A>C)
c.1107A>C (n.1107A>C)
c.*789A>C (n.*789A>C)
c.1370A>C (p.Glu457Ala)
c.*650A>C (n.*650A>C)
c.1478A>C (p.Glu493Ala)
c.800A>C (p.Glu267Ala)
c.1385A>C (p.Glu462Ala)
c.1254A>C (n.1254A>C)
c.62A>C (p.Glu21Ala)
c.635A>C (p.Glu212Ala)
c.1313A>C (p.Glu438Ala)
c.1436A>C (p.Glu479Ala)
c.710A>C (p.Glu237Ala)
c.1316A>C (p.Glu439Ala)
n.2423+2778T>G
n.1675A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539291A>GCA376071275CACNB2,NSUN6c.1406A>G (p.Glu469Gly)
c.1271A>G (p.Glu424Gly)
c.1394A>G (p.Glu465Gly)
c.1466A>G (p.Glu489Gly)
c.1550A>G (p.Glu517Gly)
c.1388A>G (p.Glu463Gly)
c.1175A>G (p.Glu392Gly)
c.1352A>G (p.Glu451Gly)
c.*691A>G (n.*691A>G)
c.1292A>G (p.Glu431Gly)
c.*824A>G (n.*824A>G)
c.1107A>G (n.1107A>G)
c.*789A>G (n.*789A>G)
c.1370A>G (p.Glu457Gly)
c.*650A>G (n.*650A>G)
c.1478A>G (p.Glu493Gly)
c.800A>G (p.Glu267Gly)
c.1385A>G (p.Glu462Gly)
c.1254A>G (n.1254A>G)
c.62A>G (p.Glu21Gly)
c.635A>G (p.Glu212Gly)
c.1313A>G (p.Glu438Gly)
c.1436A>G (p.Glu479Gly)
c.710A>G (p.Glu237Gly)
c.1316A>G (p.Glu439Gly)
n.2423+2778T>C
n.1675A>G
10g.18539291A>TCA376071273CACNB2,NSUN6c.1406A>T (p.Glu469Val)
c.1271A>T (p.Glu424Val)
c.1394A>T (p.Glu465Val)
c.1466A>T (p.Glu489Val)
c.1550A>T (p.Glu517Val)
c.1388A>T (p.Glu463Val)
c.1175A>T (p.Glu392Val)
c.1352A>T (p.Glu451Val)
c.*691A>T (n.*691A>T)
c.1292A>T (p.Glu431Val)
c.*824A>T (n.*824A>T)
c.1107A>T (n.1107A>T)
c.*789A>T (n.*789A>T)
c.1370A>T (p.Glu457Val)
c.*650A>T (n.*650A>T)
c.1478A>T (p.Glu493Val)
c.800A>T (p.Glu267Val)
c.1385A>T (p.Glu462Val)
c.1254A>T (n.1254A>T)
c.62A>T (p.Glu21Val)
c.635A>T (p.Glu212Val)
c.1313A>T (p.Glu438Val)
c.1436A>T (p.Glu479Val)
c.710A>T (p.Glu237Val)
c.1316A>T (p.Glu439Val)
n.2423+2778T>A
n.1675A>T
10g.18539292A=CA1894172897CACNB2,NSUN6c.1407A= (p.Glu469=)
c.1272A= (p.Glu424=)
c.1395A= (p.Glu465=)
c.1467A= (p.Glu489=)
c.1551A= (p.Glu517=)
c.1389A= (p.Glu463=)
c.1176A= (p.Glu392=)
c.1353A= (p.Glu451=)
c.*692A= (n.*692A=)
c.1293A= (p.Glu431=)
c.*825A= (n.*825A=)
c.1108A= (n.1108A=)
c.*790A= (n.*790A=)
c.1371A= (p.Glu457=)
c.*651A= (n.*651A=)
c.1479A= (p.Glu493=)
c.801A= (p.Glu267=)
c.1386A= (p.Glu462=)
c.1255A= (n.1255A=)
c.63A= (p.Glu21=)
c.636A= (p.Glu212=)
c.1314A= (p.Glu438=)
c.1437A= (p.Glu479=)
c.711A= (p.Glu237=)
c.1317A= (p.Glu439=)
n.2423+2777T=
n.1676A=
10g.18539292A>CCA376071276CACNB2,NSUN6c.1407A>C (p.Glu469Asp)
c.1272A>C (p.Glu424Asp)
c.1395A>C (p.Glu465Asp)
c.1467A>C (p.Glu489Asp)
c.1551A>C (p.Glu517Asp)
c.1389A>C (p.Glu463Asp)
c.1176A>C (p.Glu392Asp)
c.1353A>C (p.Glu451Asp)
c.*692A>C (n.*692A>C)
c.1293A>C (p.Glu431Asp)
c.*825A>C (n.*825A>C)
c.1108A>C (n.1108A>C)
c.*790A>C (n.*790A>C)
c.1371A>C (p.Glu457Asp)
c.*651A>C (n.*651A>C)
c.1479A>C (p.Glu493Asp)
c.801A>C (p.Glu267Asp)
c.1386A>C (p.Glu462Asp)
c.1255A>C (n.1255A>C)
c.63A>C (p.Glu21Asp)
c.636A>C (p.Glu212Asp)
c.1314A>C (p.Glu438Asp)
c.1437A>C (p.Glu479Asp)
c.711A>C (p.Glu237Asp)
c.1317A>C (p.Glu439Asp)
n.2423+2777T>G
n.1676A>C
 gnomAD v4
10g.18539292A>GCA203167158CACNB2,NSUN6c.1407A>G (p.Glu469=)
c.1272A>G (p.Glu424=)
c.1395A>G (p.Glu465=)
c.1467A>G (p.Glu489=)
c.1551A>G (p.Glu517=)
c.1389A>G (p.Glu463=)
c.1176A>G (p.Glu392=)
c.1353A>G (p.Glu451=)
c.*692A>G (n.*692A>G)
c.1293A>G (p.Glu431=)
c.*825A>G (n.*825A>G)
c.1108A>G (n.1108A>G)
c.*790A>G (n.*790A>G)
c.1371A>G (p.Glu457=)
c.*651A>G (n.*651A>G)
c.1479A>G (p.Glu493=)
c.801A>G (p.Glu267=)
c.1386A>G (p.Glu462=)
c.1255A>G (n.1255A>G)
c.63A>G (p.Glu21=)
c.636A>G (p.Glu212=)
c.1314A>G (p.Glu438=)
c.1437A>G (p.Glu479=)
c.711A>G (p.Glu237=)
c.1317A>G (p.Glu439=)
n.2423+2777T>C
n.1676A>G
 ClinVar dbSNP gnomAD v4
10g.18539292A>TCA376071278CACNB2,NSUN6c.1407A>T (p.Glu469Asp)
c.1272A>T (p.Glu424Asp)
c.1395A>T (p.Glu465Asp)
c.1467A>T (p.Glu489Asp)
c.1551A>T (p.Glu517Asp)
c.1389A>T (p.Glu463Asp)
c.1176A>T (p.Glu392Asp)
c.1353A>T (p.Glu451Asp)
c.*692A>T (n.*692A>T)
c.1293A>T (p.Glu431Asp)
c.*825A>T (n.*825A>T)
c.1108A>T (n.1108A>T)
c.*790A>T (n.*790A>T)
c.1371A>T (p.Glu457Asp)
c.*651A>T (n.*651A>T)
c.1479A>T (p.Glu493Asp)
c.801A>T (p.Glu267Asp)
c.1386A>T (p.Glu462Asp)
c.1255A>T (n.1255A>T)
c.63A>T (p.Glu21Asp)
c.636A>T (p.Glu212Asp)
c.1314A>T (p.Glu438Asp)
c.1437A>T (p.Glu479Asp)
c.711A>T (p.Glu237Asp)
c.1317A>T (p.Glu439Asp)
n.2423+2777T>A
n.1676A>T
10g.18539293_18539297delCA2608435589CACNB2,NSUN6c.1408_1412del (p.Glu470ThrfsTer2)
c.1273_1277del (p.Glu425ThrfsTer2)
c.1396_1400del (p.Glu466ThrfsTer2)
c.1468_1472del (p.Glu490ThrfsTer2)
c.1552_1556del (p.Glu518ThrfsTer2)
c.1390_1394del (p.Glu464ThrfsTer2)
c.1177_1181del (p.Glu393ThrfsTer2)
c.1354_1358del (p.Glu452ThrfsTer2)
c.*693_*697del (n.*693_*697del)
c.1294_1298del (p.Glu432ThrfsTer2)
c.*826_*830del (n.*826_*830del)
c.1109_1113del (n.1109_1113del)
c.*791_*795del (n.*791_*795del)
c.1372_1376del (p.Glu458ThrfsTer2)
c.*652_*656del (n.*652_*656del)
c.1480_1484del (p.Glu494ThrfsTer2)
c.802_806del (p.Glu268ThrfsTer2)
c.1387_1391del (p.Glu463ThrfsTer2)
c.1256_1260del (n.1256_1260del)
c.64_68del (p.Glu22ThrfsTer2)
c.637_641del (p.Glu213ThrfsTer2)
c.1315_1319del (p.Glu439ThrfsTer2)
c.1438_1442del (p.Glu480ThrfsTer2)
c.712_716del (p.Glu238ThrfsTer2)
c.1318_1322del (p.Glu440ThrfsTer2)
n.2423+2773_2423+2777del
n.1677_1681del
 gnomAD v4
10g.18539292_18539336dupCA592060470CACNB2,NSUN6c.1407_1451dup (p.Ser484_Ser485insGluGluProSerValGluProValLysLysSerGlnHisArgSer)
c.1272_1316dup (p.Ser439_Ser440insGluGluProSerValGluProValLysLysSerGlnHisArgSer)
c.1395_1439dup (p.Ser480_Ser481insGluGluProSerValGluProValLysLysSerGlnHisArgSer)
c.1467_1511dup (p.Ser504_Ser505insGluGluProSerValGluProValLysLysSerGlnHisArgSer)
c.1551_1595dup (p.Ser532_Ser533insGluGluProSerValGluProValLysLysSerGlnHisArgSer)
c.1389_1433dup (p.Ser478_Ser479insGluGluProSerValGluProValLysLysSerGlnHisArgSer)
c.1176_1220dup (p.Ser407_Ser408insGluGluProSerValGluProValLysLysSerGlnHisArgSer)
c.1353_1397dup (p.Ser466_Ser467insGluGluProSerValGluProValLysLysSerGlnHisArgSer)
c.*692_*736dup (n.*692_*736dup)
c.1293_1337dup (p.Ser446_Ser447insGluGluProSerValGluProValLysLysSerGlnHisArgSer)
c.*825_*869dup (n.*825_*869dup)
c.1108_1152dup (n.1108_1152dup)
c.*790_*834dup (n.*790_*834dup)
c.1371_1415dup (p.Ser472_Ser473insGluGluProSerValGluProValLysLysSerGlnHisArgSer)
c.*651_*695dup (n.*651_*695dup)
c.1479_1523dup (p.Ser508_Ser509insGluGluProSerValGluProValLysLysSerGlnHisArgSer)
c.801_845dup (p.Ser282_Ser283insGluGluProSerValGluProValLysLysSerGlnHisArgSer)
c.1386_1430dup (p.Ser477_Ser478insGluGluProSerValGluProValLysLysSerGlnHisArgSer)
c.1255_1299dup (n.1255_1299dup)
c.63_107dup (p.Ser36_Ser37insGluGluProSerValGluProValLysLysSerGlnHisArgSer)
c.636_680dup (p.Ser227_Ser228insGluGluProSerValGluProValLysLysSerGlnHisArgSer)
c.1314_1358dup (p.Ser453_Ser454insGluGluProSerValGluProValLysLysSerGlnHisArgSer)
c.1437_1481dup (p.Ser494_Ser495insGluGluProSerValGluProValLysLysSerGlnHisArgSer)
c.711_755dup (p.Ser252_Ser253insGluGluProSerValGluProValLysLysSerGlnHisArgSer)
c.1317_1361dup (p.Ser454_Ser455insGluGluProSerValGluProValLysLysSerGlnHisArgSer)
n.2423+2733_2423+2777dup
n.1676_1720dup
 dbSNP gnomAD v2 gnomAD v4
10g.18539293G>ACA376071280CACNB2,NSUN6c.1408G>A (p.Glu470Lys)
c.1273G>A (p.Glu425Lys)
c.1396G>A (p.Glu466Lys)
c.1468G>A (p.Glu490Lys)
c.1552G>A (p.Glu518Lys)
c.1390G>A (p.Glu464Lys)
c.1177G>A (p.Glu393Lys)
c.1354G>A (p.Glu452Lys)
c.*693G>A (n.*693G>A)
c.1294G>A (p.Glu432Lys)
c.*826G>A (n.*826G>A)
c.1109G>A (n.1109G>A)
c.*791G>A (n.*791G>A)
c.1372G>A (p.Glu458Lys)
c.*652G>A (n.*652G>A)
c.1480G>A (p.Glu494Lys)
c.802G>A (p.Glu268Lys)
c.1387G>A (p.Glu463Lys)
c.1256G>A (n.1256G>A)
c.64G>A (p.Glu22Lys)
c.637G>A (p.Glu213Lys)
c.1315G>A (p.Glu439Lys)
c.1438G>A (p.Glu480Lys)
c.712G>A (p.Glu238Lys)
c.1318G>A (p.Glu440Lys)
n.2423+2776C>T
n.1677G>A
 dbSNP gnomAD v2 gnomAD v4
10g.18539293G>CCA376071282CACNB2,NSUN6c.1408G>C (p.Glu470Gln)
c.1273G>C (p.Glu425Gln)
c.1396G>C (p.Glu466Gln)
c.1468G>C (p.Glu490Gln)
c.1552G>C (p.Glu518Gln)
c.1390G>C (p.Glu464Gln)
c.1177G>C (p.Glu393Gln)
c.1354G>C (p.Glu452Gln)
c.*693G>C (n.*693G>C)
c.1294G>C (p.Glu432Gln)
c.*826G>C (n.*826G>C)
c.1109G>C (n.1109G>C)
c.*791G>C (n.*791G>C)
c.1372G>C (p.Glu458Gln)
c.*652G>C (n.*652G>C)
c.1480G>C (p.Glu494Gln)
c.802G>C (p.Glu268Gln)
c.1387G>C (p.Glu463Gln)
c.1256G>C (n.1256G>C)
c.64G>C (p.Glu22Gln)
c.637G>C (p.Glu213Gln)
c.1315G>C (p.Glu439Gln)
c.1438G>C (p.Glu480Gln)
c.712G>C (p.Glu238Gln)
c.1318G>C (p.Glu440Gln)
n.2423+2776C>G
n.1677G>C
 gnomAD v4
10g.18539293G=CA1894172906CACNB2,NSUN6c.1408G= (p.Glu470=)
c.1273G= (p.Glu425=)
c.1396G= (p.Glu466=)
c.1468G= (p.Glu490=)
c.1552G= (p.Glu518=)
c.1390G= (p.Glu464=)
c.1177G= (p.Glu393=)
c.1354G= (p.Glu452=)
c.*693G= (n.*693G=)
c.1294G= (p.Glu432=)
c.*826G= (n.*826G=)
c.1109G= (n.1109G=)
c.*791G= (n.*791G=)
c.1372G= (p.Glu458=)
c.*652G= (n.*652G=)
c.1480G= (p.Glu494=)
c.802G= (p.Glu268=)
c.1387G= (p.Glu463=)
c.1256G= (n.1256G=)
c.64G= (p.Glu22=)
c.637G= (p.Glu213=)
c.1315G= (p.Glu439=)
c.1438G= (p.Glu480=)
c.712G= (p.Glu238=)
c.1318G= (p.Glu440=)
n.2423+2776C=
n.1677G=
10g.18539293G>TCA376071283CACNB2,NSUN6c.1408G>T (p.Glu470Ter)
c.1273G>T (p.Glu425Ter)
c.1396G>T (p.Glu466Ter)
c.1468G>T (p.Glu490Ter)
c.1552G>T (p.Glu518Ter)
c.1390G>T (p.Glu464Ter)
c.1177G>T (p.Glu393Ter)
c.1354G>T (p.Glu452Ter)
c.*693G>T (n.*693G>T)
c.1294G>T (p.Glu432Ter)
c.*826G>T (n.*826G>T)
c.1109G>T (n.1109G>T)
c.*791G>T (n.*791G>T)
c.1372G>T (p.Glu458Ter)
c.*652G>T (n.*652G>T)
c.1480G>T (p.Glu494Ter)
c.802G>T (p.Glu268Ter)
c.1387G>T (p.Glu463Ter)
c.1256G>T (n.1256G>T)
c.64G>T (p.Glu22Ter)
c.637G>T (p.Glu213Ter)
c.1315G>T (p.Glu439Ter)
c.1438G>T (p.Glu480Ter)
c.712G>T (p.Glu238Ter)
c.1318G>T (p.Glu440Ter)
n.2423+2776C>A
n.1677G>T
 dbSNP gnomAD v4
10g.18539293dupCA2608435590CACNB2,NSUN6c.1408dup (p.Glu470GlyfsTer4)
c.1273dup (p.Glu425GlyfsTer4)
c.1396dup (p.Glu466GlyfsTer4)
c.1468dup (p.Glu490GlyfsTer4)
c.1552dup (p.Glu518GlyfsTer4)
c.1390dup (p.Glu464GlyfsTer4)
c.1177dup (p.Glu393GlyfsTer4)
c.1354dup (p.Glu452GlyfsTer4)
c.*693dup (n.*693dup)
c.1294dup (p.Glu432GlyfsTer4)
c.*826dup (n.*826dup)
c.1109dup (n.1109dup)
c.*791dup (n.*791dup)
c.1372dup (p.Glu458GlyfsTer4)
c.*652dup (n.*652dup)
c.1480dup (p.Glu494GlyfsTer4)
c.802dup (p.Glu268GlyfsTer4)
c.1387dup (p.Glu463GlyfsTer4)
c.1256dup (n.1256dup)
c.64dup (p.Glu22GlyfsTer4)
c.637dup (p.Glu213GlyfsTer4)
c.1315dup (p.Glu439GlyfsTer4)
c.1438dup (p.Glu480GlyfsTer4)
c.712dup (p.Glu238GlyfsTer4)
c.1318dup (p.Glu440GlyfsTer4)
n.2423+2776dup
n.1677dup
 gnomAD v4
10g.18539294A=CA1894172912CACNB2,NSUN6c.1409A= (p.Glu470=)
c.1274A= (p.Glu425=)
c.1397A= (p.Glu466=)
c.1469A= (p.Glu490=)
c.1553A= (p.Glu518=)
c.1391A= (p.Glu464=)
c.1178A= (p.Glu393=)
c.1355A= (p.Glu452=)
c.*694A= (n.*694A=)
c.1295A= (p.Glu432=)
c.*827A= (n.*827A=)
c.1110A= (n.1110A=)
c.*792A= (n.*792A=)
c.1373A= (p.Glu458=)
c.*653A= (n.*653A=)
c.1481A= (p.Glu494=)
c.803A= (p.Glu268=)
c.1388A= (p.Glu463=)
c.1257A= (n.1257A=)
c.65A= (p.Glu22=)
c.638A= (p.Glu213=)
c.1316A= (p.Glu439=)
c.1439A= (p.Glu480=)
c.713A= (p.Glu238=)
c.1319A= (p.Glu440=)
n.2423+2775T=
n.1678A=
10g.18539294A>CCA301854CACNB2,NSUN6c.1409A>C (p.Glu470Ala)
c.1274A>C (p.Glu425Ala)
c.1397A>C (p.Glu466Ala)
c.1469A>C (p.Glu490Ala)
c.1553A>C (p.Glu518Ala)
c.1391A>C (p.Glu464Ala)
c.1178A>C (p.Glu393Ala)
c.1355A>C (p.Glu452Ala)
c.*694A>C (n.*694A>C)
c.1295A>C (p.Glu432Ala)
c.*827A>C (n.*827A>C)
c.1110A>C (n.1110A>C)
c.*792A>C (n.*792A>C)
c.1373A>C (p.Glu458Ala)
c.*653A>C (n.*653A>C)
c.1481A>C (p.Glu494Ala)
c.803A>C (p.Glu268Ala)
c.1388A>C (p.Glu463Ala)
c.1257A>C (n.1257A>C)
c.65A>C (p.Glu22Ala)
c.638A>C (p.Glu213Ala)
c.1316A>C (p.Glu439Ala)
c.1439A>C (p.Glu480Ala)
c.713A>C (p.Glu238Ala)
c.1319A>C (p.Glu440Ala)
n.2423+2775T>G
n.1678A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539294A>GCA376071286CACNB2,NSUN6c.1409A>G (p.Glu470Gly)
c.1274A>G (p.Glu425Gly)
c.1397A>G (p.Glu466Gly)
c.1469A>G (p.Glu490Gly)
c.1553A>G (p.Glu518Gly)
c.1391A>G (p.Glu464Gly)
c.1178A>G (p.Glu393Gly)
c.1355A>G (p.Glu452Gly)
c.*694A>G (n.*694A>G)
c.1295A>G (p.Glu432Gly)
c.*827A>G (n.*827A>G)
c.1110A>G (n.1110A>G)
c.*792A>G (n.*792A>G)
c.1373A>G (p.Glu458Gly)
c.*653A>G (n.*653A>G)
c.1481A>G (p.Glu494Gly)
c.803A>G (p.Glu268Gly)
c.1388A>G (p.Glu463Gly)
c.1257A>G (n.1257A>G)
c.65A>G (p.Glu22Gly)
c.638A>G (p.Glu213Gly)
c.1316A>G (p.Glu439Gly)
c.1439A>G (p.Glu480Gly)
c.713A>G (p.Glu238Gly)
c.1319A>G (p.Glu440Gly)
n.2423+2775T>C
n.1678A>G
10g.18539294A>TCA376071288CACNB2,NSUN6c.1409A>T (p.Glu470Val)
c.1274A>T (p.Glu425Val)
c.1397A>T (p.Glu466Val)
c.1469A>T (p.Glu490Val)
c.1553A>T (p.Glu518Val)
c.1391A>T (p.Glu464Val)
c.1178A>T (p.Glu393Val)
c.1355A>T (p.Glu452Val)
c.*694A>T (n.*694A>T)
c.1295A>T (p.Glu432Val)
c.*827A>T (n.*827A>T)
c.1110A>T (n.1110A>T)
c.*792A>T (n.*792A>T)
c.1373A>T (p.Glu458Val)
c.*653A>T (n.*653A>T)
c.1481A>T (p.Glu494Val)
c.803A>T (p.Glu268Val)
c.1388A>T (p.Glu463Val)
c.1257A>T (n.1257A>T)
c.65A>T (p.Glu22Val)
c.638A>T (p.Glu213Val)
c.1316A>T (p.Glu439Val)
c.1439A>T (p.Glu480Val)
c.713A>T (p.Glu238Val)
c.1319A>T (p.Glu440Val)
n.2423+2775T>A
n.1678A>T
10g.18539295A>CCA376071290CACNB2,NSUN6c.1410A>C (p.Glu470Asp)
c.1275A>C (p.Glu425Asp)
c.1398A>C (p.Glu466Asp)
c.1470A>C (p.Glu490Asp)
c.1554A>C (p.Glu518Asp)
c.1392A>C (p.Glu464Asp)
c.1179A>C (p.Glu393Asp)
c.1356A>C (p.Glu452Asp)
c.*695A>C (n.*695A>C)
c.1296A>C (p.Glu432Asp)
c.*828A>C (n.*828A>C)
c.1111A>C (n.1111A>C)
c.*793A>C (n.*793A>C)
c.1374A>C (p.Glu458Asp)
c.*654A>C (n.*654A>C)
c.1482A>C (p.Glu494Asp)
c.804A>C (p.Glu268Asp)
c.1389A>C (p.Glu463Asp)
c.1258A>C (n.1258A>C)
c.66A>C (p.Glu22Asp)
c.639A>C (p.Glu213Asp)
c.1317A>C (p.Glu439Asp)
c.1440A>C (p.Glu480Asp)
c.714A>C (p.Glu238Asp)
c.1320A>C (p.Glu440Asp)
n.2423+2774T>G
n.1679A>C
10g.18539295A>GCA468627232CACNB2,NSUN6c.1410A>G (p.Glu470=)
c.1275A>G (p.Glu425=)
c.1398A>G (p.Glu466=)
c.1470A>G (p.Glu490=)
c.1554A>G (p.Glu518=)
c.1392A>G (p.Glu464=)
c.1179A>G (p.Glu393=)
c.1356A>G (p.Glu452=)
c.*695A>G (n.*695A>G)
c.1296A>G (p.Glu432=)
c.*828A>G (n.*828A>G)
c.1111A>G (n.1111A>G)
c.*793A>G (n.*793A>G)
c.1374A>G (p.Glu458=)
c.*654A>G (n.*654A>G)
c.1482A>G (p.Glu494=)
c.804A>G (p.Glu268=)
c.1389A>G (p.Glu463=)
c.1258A>G (n.1258A>G)
c.66A>G (p.Glu22=)
c.639A>G (p.Glu213=)
c.1317A>G (p.Glu439=)
c.1440A>G (p.Glu480=)
c.714A>G (p.Glu238=)
c.1320A>G (p.Glu440=)
n.2423+2774T>C
n.1679A>G
10g.18539295A>TCA376071291CACNB2,NSUN6c.1410A>T (p.Glu470Asp)
c.1275A>T (p.Glu425Asp)
c.1398A>T (p.Glu466Asp)
c.1470A>T (p.Glu490Asp)
c.1554A>T (p.Glu518Asp)
c.1392A>T (p.Glu464Asp)
c.1179A>T (p.Glu393Asp)
c.1356A>T (p.Glu452Asp)
c.*695A>T (n.*695A>T)
c.1296A>T (p.Glu432Asp)
c.*828A>T (n.*828A>T)
c.1111A>T (n.1111A>T)
c.*793A>T (n.*793A>T)
c.1374A>T (p.Glu458Asp)
c.*654A>T (n.*654A>T)
c.1482A>T (p.Glu494Asp)
c.804A>T (p.Glu268Asp)
c.1389A>T (p.Glu463Asp)
c.1258A>T (n.1258A>T)
c.66A>T (p.Glu22Asp)
c.639A>T (p.Glu213Asp)
c.1317A>T (p.Glu439Asp)
c.1440A>T (p.Glu480Asp)
c.714A>T (p.Glu238Asp)
c.1320A>T (p.Glu440Asp)
n.2423+2774T>A
n.1679A>T
10g.18539296G>ACA376071296CACNB2,NSUN6c.1411G>A (p.Glu471Lys)
c.1276G>A (p.Glu426Lys)
c.1399G>A (p.Glu467Lys)
c.1471G>A (p.Glu491Lys)
c.1555G>A (p.Glu519Lys)
c.1393G>A (p.Glu465Lys)
c.1180G>A (p.Glu394Lys)
c.1357G>A (p.Glu453Lys)
c.*696G>A (n.*696G>A)
c.1297G>A (p.Glu433Lys)
c.*829G>A (n.*829G>A)
c.1112G>A (n.1112G>A)
c.*794G>A (n.*794G>A)
c.1375G>A (p.Glu459Lys)
c.*655G>A (n.*655G>A)
c.1483G>A (p.Glu495Lys)
c.805G>A (p.Glu269Lys)
c.1390G>A (p.Glu464Lys)
c.1259G>A (n.1259G>A)
c.67G>A (p.Glu23Lys)
c.640G>A (p.Glu214Lys)
c.1318G>A (p.Glu440Lys)
c.1441G>A (p.Glu481Lys)
c.715G>A (p.Glu239Lys)
c.1321G>A (p.Glu441Lys)
n.2423+2773C>T
n.1680G>A
 gnomAD v4
10g.18539296G>CCA376071294CACNB2,NSUN6c.1411G>C (p.Glu471Gln)
c.1276G>C (p.Glu426Gln)
c.1399G>C (p.Glu467Gln)
c.1471G>C (p.Glu491Gln)
c.1555G>C (p.Glu519Gln)
c.1393G>C (p.Glu465Gln)
c.1180G>C (p.Glu394Gln)
c.1357G>C (p.Glu453Gln)
c.*696G>C (n.*696G>C)
c.1297G>C (p.Glu433Gln)
c.*829G>C (n.*829G>C)
c.1112G>C (n.1112G>C)
c.*794G>C (n.*794G>C)
c.1375G>C (p.Glu459Gln)
c.*655G>C (n.*655G>C)
c.1483G>C (p.Glu495Gln)
c.805G>C (p.Glu269Gln)
c.1390G>C (p.Glu464Gln)
c.1259G>C (n.1259G>C)
c.67G>C (p.Glu23Gln)
c.640G>C (p.Glu214Gln)
c.1318G>C (p.Glu440Gln)
c.1441G>C (p.Glu481Gln)
c.715G>C (p.Glu239Gln)
c.1321G>C (p.Glu441Gln)
n.2423+2773C>G
n.1680G>C
 gnomAD v4
10g.18539296G=CA1894172917CACNB2,NSUN6c.1411G= (p.Glu471=)
c.1276G= (p.Glu426=)
c.1399G= (p.Glu467=)
c.1471G= (p.Glu491=)
c.1555G= (p.Glu519=)
c.1393G= (p.Glu465=)
c.1180G= (p.Glu394=)
c.1357G= (p.Glu453=)
c.*696G= (n.*696G=)
c.1297G= (p.Glu433=)
c.*829G= (n.*829G=)
c.1112G= (n.1112G=)
c.*794G= (n.*794G=)
c.1375G= (p.Glu459=)
c.*655G= (n.*655G=)
c.1483G= (p.Glu495=)
c.805G= (p.Glu269=)
c.1390G= (p.Glu464=)
c.1259G= (n.1259G=)
c.67G= (p.Glu23=)
c.640G= (p.Glu214=)
c.1318G= (p.Glu440=)
c.1441G= (p.Glu481=)
c.715G= (p.Glu239=)
c.1321G= (p.Glu441=)
n.2423+2773C=
n.1680G=
10g.18539296G>TCA376071293CACNB2,NSUN6c.1411G>T (p.Glu471Ter)
c.1276G>T (p.Glu426Ter)
c.1399G>T (p.Glu467Ter)
c.1471G>T (p.Glu491Ter)
c.1555G>T (p.Glu519Ter)
c.1393G>T (p.Glu465Ter)
c.1180G>T (p.Glu394Ter)
c.1357G>T (p.Glu453Ter)
c.*696G>T (n.*696G>T)
c.1297G>T (p.Glu433Ter)
c.*829G>T (n.*829G>T)
c.1112G>T (n.1112G>T)
c.*794G>T (n.*794G>T)
c.1375G>T (p.Glu459Ter)
c.*655G>T (n.*655G>T)
c.1483G>T (p.Glu495Ter)
c.805G>T (p.Glu269Ter)
c.1390G>T (p.Glu464Ter)
c.1259G>T (n.1259G>T)
c.67G>T (p.Glu23Ter)
c.640G>T (p.Glu214Ter)
c.1318G>T (p.Glu440Ter)
c.1441G>T (p.Glu481Ter)
c.715G>T (p.Glu239Ter)
c.1321G>T (p.Glu441Ter)
n.2423+2773C>A
n.1680G>T
 dbSNP gnomAD v2 gnomAD v4
10g.18539297A>CCA376071298CACNB2,NSUN6c.1412A>C (p.Glu471Ala)
c.1277A>C (p.Glu426Ala)
c.1400A>C (p.Glu467Ala)
c.1472A>C (p.Glu491Ala)
c.1556A>C (p.Glu519Ala)
c.1394A>C (p.Glu465Ala)
c.1181A>C (p.Glu394Ala)
c.1358A>C (p.Glu453Ala)
c.*697A>C (n.*697A>C)
c.1298A>C (p.Glu433Ala)
c.*830A>C (n.*830A>C)
c.1113A>C (n.1113A>C)
c.*795A>C (n.*795A>C)
c.1376A>C (p.Glu459Ala)
c.*656A>C (n.*656A>C)
c.1484A>C (p.Glu495Ala)
c.806A>C (p.Glu269Ala)
c.1391A>C (p.Glu464Ala)
c.1260A>C (n.1260A>C)
c.68A>C (p.Glu23Ala)
c.641A>C (p.Glu214Ala)
c.1319A>C (p.Glu440Ala)
c.1442A>C (p.Glu481Ala)
c.716A>C (p.Glu239Ala)
c.1322A>C (p.Glu441Ala)
n.2423+2772T>G
n.1681A>C
 gnomAD v4
10g.18539297A>GCA376071300CACNB2,NSUN6c.1412A>G (p.Glu471Gly)
c.1277A>G (p.Glu426Gly)
c.1400A>G (p.Glu467Gly)
c.1472A>G (p.Glu491Gly)
c.1556A>G (p.Glu519Gly)
c.1394A>G (p.Glu465Gly)
c.1181A>G (p.Glu394Gly)
c.1358A>G (p.Glu453Gly)
c.*697A>G (n.*697A>G)
c.1298A>G (p.Glu433Gly)
c.*830A>G (n.*830A>G)
c.1113A>G (n.1113A>G)
c.*795A>G (n.*795A>G)
c.1376A>G (p.Glu459Gly)
c.*656A>G (n.*656A>G)
c.1484A>G (p.Glu495Gly)
c.806A>G (p.Glu269Gly)
c.1391A>G (p.Glu464Gly)
c.1260A>G (n.1260A>G)
c.68A>G (p.Glu23Gly)
c.641A>G (p.Glu214Gly)
c.1319A>G (p.Glu440Gly)
c.1442A>G (p.Glu481Gly)
c.716A>G (p.Glu239Gly)
c.1322A>G (p.Glu441Gly)
n.2423+2772T>C
n.1681A>G
10g.18539297A>TCA376071301CACNB2,NSUN6c.1412A>T (p.Glu471Val)
c.1277A>T (p.Glu426Val)
c.1400A>T (p.Glu467Val)
c.1472A>T (p.Glu491Val)
c.1556A>T (p.Glu519Val)
c.1394A>T (p.Glu465Val)
c.1181A>T (p.Glu394Val)
c.1358A>T (p.Glu453Val)
c.*697A>T (n.*697A>T)
c.1298A>T (p.Glu433Val)
c.*830A>T (n.*830A>T)
c.1113A>T (n.1113A>T)
c.*795A>T (n.*795A>T)
c.1376A>T (p.Glu459Val)
c.*656A>T (n.*656A>T)
c.1484A>T (p.Glu495Val)
c.806A>T (p.Glu269Val)
c.1391A>T (p.Glu464Val)
c.1260A>T (n.1260A>T)
c.68A>T (p.Glu23Val)
c.641A>T (p.Glu214Val)
c.1319A>T (p.Glu440Val)
c.1442A>T (p.Glu481Val)
c.716A>T (p.Glu239Val)
c.1322A>T (p.Glu441Val)
n.2423+2772T>A
n.1681A>T
10g.18539298A>CCA376071303CACNB2,NSUN6c.1413A>C (p.Glu471Asp)
c.1278A>C (p.Glu426Asp)
c.1401A>C (p.Glu467Asp)
c.1473A>C (p.Glu491Asp)
c.1557A>C (p.Glu519Asp)
c.1395A>C (p.Glu465Asp)
c.1182A>C (p.Glu394Asp)
c.1359A>C (p.Glu453Asp)
c.*698A>C (n.*698A>C)
c.1299A>C (p.Glu433Asp)
c.*831A>C (n.*831A>C)
c.1114A>C (n.1114A>C)
c.*796A>C (n.*796A>C)
c.1377A>C (p.Glu459Asp)
c.*657A>C (n.*657A>C)
c.1485A>C (p.Glu495Asp)
c.807A>C (p.Glu269Asp)
c.1392A>C (p.Glu464Asp)
c.1261A>C (n.1261A>C)
c.69A>C (p.Glu23Asp)
c.642A>C (p.Glu214Asp)
c.1320A>C (p.Glu440Asp)
c.1443A>C (p.Glu481Asp)
c.717A>C (p.Glu239Asp)
c.1323A>C (p.Glu441Asp)
n.2423+2771T>G
n.1682A>C
10g.18539298A>GCA468627258CACNB2,NSUN6c.1413A>G (p.Glu471=)
c.1278A>G (p.Glu426=)
c.1401A>G (p.Glu467=)
c.1473A>G (p.Glu491=)
c.1557A>G (p.Glu519=)
c.1395A>G (p.Glu465=)
c.1182A>G (p.Glu394=)
c.1359A>G (p.Glu453=)
c.*698A>G (n.*698A>G)
c.1299A>G (p.Glu433=)
c.*831A>G (n.*831A>G)
c.1114A>G (n.1114A>G)
c.*796A>G (n.*796A>G)
c.1377A>G (p.Glu459=)
c.*657A>G (n.*657A>G)
c.1485A>G (p.Glu495=)
c.807A>G (p.Glu269=)
c.1392A>G (p.Glu464=)
c.1261A>G (n.1261A>G)
c.69A>G (p.Glu23=)
c.642A>G (p.Glu214=)
c.1320A>G (p.Glu440=)
c.1443A>G (p.Glu481=)
c.717A>G (p.Glu239=)
c.1323A>G (p.Glu441=)
n.2423+2771T>C
n.1682A>G
 ClinVar
10g.18539298A>TCA376071305CACNB2,NSUN6c.1413A>T (p.Glu471Asp)
c.1278A>T (p.Glu426Asp)
c.1401A>T (p.Glu467Asp)
c.1473A>T (p.Glu491Asp)
c.1557A>T (p.Glu519Asp)
c.1395A>T (p.Glu465Asp)
c.1182A>T (p.Glu394Asp)
c.1359A>T (p.Glu453Asp)
c.*698A>T (n.*698A>T)
c.1299A>T (p.Glu433Asp)
c.*831A>T (n.*831A>T)
c.1114A>T (n.1114A>T)
c.*796A>T (n.*796A>T)
c.1377A>T (p.Glu459Asp)
c.*657A>T (n.*657A>T)
c.1485A>T (p.Glu495Asp)
c.807A>T (p.Glu269Asp)
c.1392A>T (p.Glu464Asp)
c.1261A>T (n.1261A>T)
c.69A>T (p.Glu23Asp)
c.642A>T (p.Glu214Asp)
c.1320A>T (p.Glu440Asp)
c.1443A>T (p.Glu481Asp)
c.717A>T (p.Glu239Asp)
c.1323A>T (p.Glu441Asp)
n.2423+2771T>A
n.1682A>T
10g.18539299C>ACA5430096CACNB2,NSUN6c.1414C>A (p.Pro472Thr)
c.1279C>A (p.Pro427Thr)
c.1402C>A (p.Pro468Thr)
c.1474C>A (p.Pro492Thr)
c.1558C>A (p.Pro520Thr)
c.1396C>A (p.Pro466Thr)
c.1183C>A (p.Pro395Thr)
c.1360C>A (p.Pro454Thr)
c.*699C>A (n.*699C>A)
c.1300C>A (p.Pro434Thr)
c.*832C>A (n.*832C>A)
c.1115C>A (n.1115C>A)
c.*797C>A (n.*797C>A)
c.1378C>A (p.Pro460Thr)
c.*658C>A (n.*658C>A)
c.1486C>A (p.Pro496Thr)
c.808C>A (p.Pro270Thr)
c.1393C>A (p.Pro465Thr)
c.1262C>A (n.1262C>A)
c.70C>A (p.Pro24Thr)
c.643C>A (p.Pro215Thr)
c.1321C>A (p.Pro441Thr)
c.1444C>A (p.Pro482Thr)
c.718C>A (p.Pro240Thr)
c.1324C>A (p.Pro442Thr)
n.2423+2770G>T
n.1683C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539299C=CA1894172923CACNB2,NSUN6c.1414C= (p.Pro472=)
c.1279C= (p.Pro427=)
c.1402C= (p.Pro468=)
c.1474C= (p.Pro492=)
c.1558C= (p.Pro520=)
c.1396C= (p.Pro466=)
c.1183C= (p.Pro395=)
c.1360C= (p.Pro454=)
c.*699C= (n.*699C=)
c.1300C= (p.Pro434=)
c.*832C= (n.*832C=)
c.1115C= (n.1115C=)
c.*797C= (n.*797C=)
c.1378C= (p.Pro460=)
c.*658C= (n.*658C=)
c.1486C= (p.Pro496=)
c.808C= (p.Pro270=)
c.1393C= (p.Pro465=)
c.1262C= (n.1262C=)
c.70C= (p.Pro24=)
c.643C= (p.Pro215=)
c.1321C= (p.Pro441=)
c.1444C= (p.Pro482=)
c.718C= (p.Pro240=)
c.1324C= (p.Pro442=)
n.2423+2770G=
n.1683C=
10g.18539299C>GCA236659CACNB2,NSUN6c.1414C>G (p.Pro472Ala)
c.1279C>G (p.Pro427Ala)
c.1402C>G (p.Pro468Ala)
c.1474C>G (p.Pro492Ala)
c.1558C>G (p.Pro520Ala)
c.1396C>G (p.Pro466Ala)
c.1183C>G (p.Pro395Ala)
c.1360C>G (p.Pro454Ala)
c.*699C>G (n.*699C>G)
c.1300C>G (p.Pro434Ala)
c.*832C>G (n.*832C>G)
c.1115C>G (n.1115C>G)
c.*797C>G (n.*797C>G)
c.1378C>G (p.Pro460Ala)
c.*658C>G (n.*658C>G)
c.1486C>G (p.Pro496Ala)
c.808C>G (p.Pro270Ala)
c.1393C>G (p.Pro465Ala)
c.1262C>G (n.1262C>G)
c.70C>G (p.Pro24Ala)
c.643C>G (p.Pro215Ala)
c.1321C>G (p.Pro441Ala)
c.1444C>G (p.Pro482Ala)
c.718C>G (p.Pro240Ala)
c.1324C>G (p.Pro442Ala)
n.2423+2770G>C
n.1683C>G
 ClinVar dbSNP
10g.18539299C>TCA376071307CACNB2,NSUN6c.1414C>T (p.Pro472Ser)
c.1279C>T (p.Pro427Ser)
c.1402C>T (p.Pro468Ser)
c.1474C>T (p.Pro492Ser)
c.1558C>T (p.Pro520Ser)
c.1396C>T (p.Pro466Ser)
c.1183C>T (p.Pro395Ser)
c.1360C>T (p.Pro454Ser)
c.*699C>T (n.*699C>T)
c.1300C>T (p.Pro434Ser)
c.*832C>T (n.*832C>T)
c.1115C>T (n.1115C>T)
c.*797C>T (n.*797C>T)
c.1378C>T (p.Pro460Ser)
c.*658C>T (n.*658C>T)
c.1486C>T (p.Pro496Ser)
c.808C>T (p.Pro270Ser)
c.1393C>T (p.Pro465Ser)
c.1262C>T (n.1262C>T)
c.70C>T (p.Pro24Ser)
c.643C>T (p.Pro215Ser)
c.1321C>T (p.Pro441Ser)
c.1444C>T (p.Pro482Ser)
c.718C>T (p.Pro240Ser)
c.1324C>T (p.Pro442Ser)
n.2423+2770G>A
n.1683C>T
 gnomAD v4
10g.18539300C>ACA376071309CACNB2,NSUN6c.1415C>A (p.Pro472His)
c.1280C>A (p.Pro427His)
c.1403C>A (p.Pro468His)
c.1475C>A (p.Pro492His)
c.1559C>A (p.Pro520His)
c.1397C>A (p.Pro466His)
c.1184C>A (p.Pro395His)
c.1361C>A (p.Pro454His)
c.*700C>A (n.*700C>A)
c.1301C>A (p.Pro434His)
c.*833C>A (n.*833C>A)
c.1116C>A (n.1116C>A)
c.*798C>A (n.*798C>A)
c.1379C>A (p.Pro460His)
c.*659C>A (n.*659C>A)
c.1487C>A (p.Pro496His)
c.809C>A (p.Pro270His)
c.1394C>A (p.Pro465His)
c.1263C>A (n.1263C>A)
c.71C>A (p.Pro24His)
c.644C>A (p.Pro215His)
c.1322C>A (p.Pro441His)
c.1445C>A (p.Pro482His)
c.719C>A (p.Pro240His)
c.1325C>A (p.Pro442His)
n.2423+2769G>T
n.1684C>A
10g.18539300C=CA1894172930CACNB2,NSUN6c.1415C= (p.Pro472=)
c.1280C= (p.Pro427=)
c.1403C= (p.Pro468=)
c.1475C= (p.Pro492=)
c.1559C= (p.Pro520=)
c.1397C= (p.Pro466=)
c.1184C= (p.Pro395=)
c.1361C= (p.Pro454=)
c.*700C= (n.*700C=)
c.1301C= (p.Pro434=)
c.*833C= (n.*833C=)
c.1116C= (n.1116C=)
c.*798C= (n.*798C=)
c.1379C= (p.Pro460=)
c.*659C= (n.*659C=)
c.1487C= (p.Pro496=)
c.809C= (p.Pro270=)
c.1394C= (p.Pro465=)
c.1263C= (n.1263C=)
c.71C= (p.Pro24=)
c.644C= (p.Pro215=)
c.1322C= (p.Pro441=)
c.1445C= (p.Pro482=)
c.719C= (p.Pro240=)
c.1325C= (p.Pro442=)
n.2423+2769G=
n.1684C=
10g.18539300C>GCA376071310CACNB2,NSUN6c.1415C>G (p.Pro472Arg)
c.1280C>G (p.Pro427Arg)
c.1403C>G (p.Pro468Arg)
c.1475C>G (p.Pro492Arg)
c.1559C>G (p.Pro520Arg)
c.1397C>G (p.Pro466Arg)
c.1184C>G (p.Pro395Arg)
c.1361C>G (p.Pro454Arg)
c.*700C>G (n.*700C>G)
c.1301C>G (p.Pro434Arg)
c.*833C>G (n.*833C>G)
c.1116C>G (n.1116C>G)
c.*798C>G (n.*798C>G)
c.1379C>G (p.Pro460Arg)
c.*659C>G (n.*659C>G)
c.1487C>G (p.Pro496Arg)
c.809C>G (p.Pro270Arg)
c.1394C>G (p.Pro465Arg)
c.1263C>G (n.1263C>G)
c.71C>G (p.Pro24Arg)
c.644C>G (p.Pro215Arg)
c.1322C>G (p.Pro441Arg)
c.1445C>G (p.Pro482Arg)
c.719C>G (p.Pro240Arg)
c.1325C>G (p.Pro442Arg)
n.2423+2769G>C
n.1684C>G
10g.18539300C>TCA5430097CACNB2,NSUN6c.1415C>T (p.Pro472Leu)
c.1280C>T (p.Pro427Leu)
c.1403C>T (p.Pro468Leu)
c.1475C>T (p.Pro492Leu)
c.1559C>T (p.Pro520Leu)
c.1397C>T (p.Pro466Leu)
c.1184C>T (p.Pro395Leu)
c.1361C>T (p.Pro454Leu)
c.*700C>T (n.*700C>T)
c.1301C>T (p.Pro434Leu)
c.*833C>T (n.*833C>T)
c.1116C>T (n.1116C>T)
c.*798C>T (n.*798C>T)
c.1379C>T (p.Pro460Leu)
c.*659C>T (n.*659C>T)
c.1487C>T (p.Pro496Leu)
c.809C>T (p.Pro270Leu)
c.1394C>T (p.Pro465Leu)
c.1263C>T (n.1263C>T)
c.71C>T (p.Pro24Leu)
c.644C>T (p.Pro215Leu)
c.1322C>T (p.Pro441Leu)
c.1445C>T (p.Pro482Leu)
c.719C>T (p.Pro240Leu)
c.1325C>T (p.Pro442Leu)
n.2423+2769G>A
n.1684C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539301T>ACA468627288CACNB2,NSUN6c.1416T>A (p.Pro472=)
c.1281T>A (p.Pro427=)
c.1404T>A (p.Pro468=)
c.1476T>A (p.Pro492=)
c.1560T>A (p.Pro520=)
c.1398T>A (p.Pro466=)
c.1185T>A (p.Pro395=)
c.1362T>A (p.Pro454=)
c.*701T>A (n.*701T>A)
c.1302T>A (p.Pro434=)
c.*834T>A (n.*834T>A)
c.1117T>A (n.1117T>A)
c.*799T>A (n.*799T>A)
c.1380T>A (p.Pro460=)
c.*660T>A (n.*660T>A)
c.1488T>A (p.Pro496=)
c.810T>A (p.Pro270=)
c.1395T>A (p.Pro465=)
c.1264T>A (n.1264T>A)
c.72T>A (p.Pro24=)
c.645T>A (p.Pro215=)
c.1323T>A (p.Pro441=)
c.1446T>A (p.Pro482=)
c.720T>A (p.Pro240=)
c.1326T>A (p.Pro442=)
n.2423+2768A>T
n.1685T>A
10g.18539301T>CCA289942CACNB2,NSUN6c.1416T>C (p.Pro472=)
c.1281T>C (p.Pro427=)
c.1404T>C (p.Pro468=)
c.1476T>C (p.Pro492=)
c.1560T>C (p.Pro520=)
c.1398T>C (p.Pro466=)
c.1185T>C (p.Pro395=)
c.1362T>C (p.Pro454=)
c.*701T>C (n.*701T>C)
c.1302T>C (p.Pro434=)
c.*834T>C (n.*834T>C)
c.1117T>C (n.1117T>C)
c.*799T>C (n.*799T>C)
c.1380T>C (p.Pro460=)
c.*660T>C (n.*660T>C)
c.1488T>C (p.Pro496=)
c.810T>C (p.Pro270=)
c.1395T>C (p.Pro465=)
c.1264T>C (n.1264T>C)
c.72T>C (p.Pro24=)
c.645T>C (p.Pro215=)
c.1323T>C (p.Pro441=)
c.1446T>C (p.Pro482=)
c.720T>C (p.Pro240=)
c.1326T>C (p.Pro442=)
n.2423+2768A>G
n.1685T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539301T>GCA468627293CACNB2,NSUN6c.1416T>G (p.Pro472=)
c.1281T>G (p.Pro427=)
c.1404T>G (p.Pro468=)
c.1476T>G (p.Pro492=)
c.1560T>G (p.Pro520=)
c.1398T>G (p.Pro466=)
c.1185T>G (p.Pro395=)
c.1362T>G (p.Pro454=)
c.*701T>G (n.*701T>G)
c.1302T>G (p.Pro434=)
c.*834T>G (n.*834T>G)
c.1117T>G (n.1117T>G)
c.*799T>G (n.*799T>G)
c.1380T>G (p.Pro460=)
c.*660T>G (n.*660T>G)
c.1488T>G (p.Pro496=)
c.810T>G (p.Pro270=)
c.1395T>G (p.Pro465=)
c.1264T>G (n.1264T>G)
c.72T>G (p.Pro24=)
c.645T>G (p.Pro215=)
c.1323T>G (p.Pro441=)
c.1446T>G (p.Pro482=)
c.720T>G (p.Pro240=)
c.1326T>G (p.Pro442=)
n.2423+2768A>C
n.1685T>G
 gnomAD v4
10g.18539301T=CA1894172933CACNB2,NSUN6c.1416T= (p.Pro472=)
c.1281T= (p.Pro427=)
c.1404T= (p.Pro468=)
c.1476T= (p.Pro492=)
c.1560T= (p.Pro520=)
c.1398T= (p.Pro466=)
c.1185T= (p.Pro395=)
c.1362T= (p.Pro454=)
c.*701T= (n.*701T=)
c.1302T= (p.Pro434=)
c.*834T= (n.*834T=)
c.1117T= (n.1117T=)
c.*799T= (n.*799T=)
c.1380T= (p.Pro460=)
c.*660T= (n.*660T=)
c.1488T= (p.Pro496=)
c.810T= (p.Pro270=)
c.1395T= (p.Pro465=)
c.1264T= (n.1264T=)
c.72T= (p.Pro24=)
c.645T= (p.Pro215=)
c.1323T= (p.Pro441=)
c.1446T= (p.Pro482=)
c.720T= (p.Pro240=)
c.1326T= (p.Pro442=)
n.2423+2768A=
n.1685T=
10g.18539302A>CCA376071316CACNB2,NSUN6c.1417A>C (p.Ser473Arg)
c.1282A>C (p.Ser428Arg)
c.1405A>C (p.Ser469Arg)
c.1477A>C (p.Ser493Arg)
c.1561A>C (p.Ser521Arg)
c.1399A>C (p.Ser467Arg)
c.1186A>C (p.Ser396Arg)
c.1363A>C (p.Ser455Arg)
c.*702A>C (n.*702A>C)
c.1303A>C (p.Ser435Arg)
c.*835A>C (n.*835A>C)
c.1118A>C (n.1118A>C)
c.*800A>C (n.*800A>C)
c.1381A>C (p.Ser461Arg)
c.*661A>C (n.*661A>C)
c.1489A>C (p.Ser497Arg)
c.811A>C (p.Ser271Arg)
c.1396A>C (p.Ser466Arg)
c.1265A>C (n.1265A>C)
c.73A>C (p.Ser25Arg)
c.646A>C (p.Ser216Arg)
c.1324A>C (p.Ser442Arg)
c.1447A>C (p.Ser483Arg)
c.721A>C (p.Ser241Arg)
c.1327A>C (p.Ser443Arg)
n.2423+2767T>G
n.1686A>C
10g.18539302A>GCA376071315CACNB2,NSUN6c.1417A>G (p.Ser473Gly)
c.1282A>G (p.Ser428Gly)
c.1405A>G (p.Ser469Gly)
c.1477A>G (p.Ser493Gly)
c.1561A>G (p.Ser521Gly)
c.1399A>G (p.Ser467Gly)
c.1186A>G (p.Ser396Gly)
c.1363A>G (p.Ser455Gly)
c.*702A>G (n.*702A>G)
c.1303A>G (p.Ser435Gly)
c.*835A>G (n.*835A>G)
c.1118A>G (n.1118A>G)
c.*800A>G (n.*800A>G)
c.1381A>G (p.Ser461Gly)
c.*661A>G (n.*661A>G)
c.1489A>G (p.Ser497Gly)
c.811A>G (p.Ser271Gly)
c.1396A>G (p.Ser466Gly)
c.1265A>G (n.1265A>G)
c.73A>G (p.Ser25Gly)
c.646A>G (p.Ser216Gly)
c.1324A>G (p.Ser442Gly)
c.1447A>G (p.Ser483Gly)
c.721A>G (p.Ser241Gly)
c.1327A>G (p.Ser443Gly)
n.2423+2767T>C
n.1686A>G
10g.18539302A>TCA376071313CACNB2,NSUN6c.1417A>T (p.Ser473Cys)
c.1282A>T (p.Ser428Cys)
c.1405A>T (p.Ser469Cys)
c.1477A>T (p.Ser493Cys)
c.1561A>T (p.Ser521Cys)
c.1399A>T (p.Ser467Cys)
c.1186A>T (p.Ser396Cys)
c.1363A>T (p.Ser455Cys)
c.*702A>T (n.*702A>T)
c.1303A>T (p.Ser435Cys)
c.*835A>T (n.*835A>T)
c.1118A>T (n.1118A>T)
c.*800A>T (n.*800A>T)
c.1381A>T (p.Ser461Cys)
c.*661A>T (n.*661A>T)
c.1489A>T (p.Ser497Cys)
c.811A>T (p.Ser271Cys)
c.1396A>T (p.Ser466Cys)
c.1265A>T (n.1265A>T)
c.73A>T (p.Ser25Cys)
c.646A>T (p.Ser216Cys)
c.1324A>T (p.Ser442Cys)
c.1447A>T (p.Ser483Cys)
c.721A>T (p.Ser241Cys)
c.1327A>T (p.Ser443Cys)
n.2423+2767T>A
n.1686A>T
10g.18539303G>ACA376071318CACNB2,NSUN6c.1418G>A (p.Ser473Asn)
c.1283G>A (p.Ser428Asn)
c.1406G>A (p.Ser469Asn)
c.1478G>A (p.Ser493Asn)
c.1562G>A (p.Ser521Asn)
c.1400G>A (p.Ser467Asn)
c.1187G>A (p.Ser396Asn)
c.1364G>A (p.Ser455Asn)
c.*703G>A (n.*703G>A)
c.1304G>A (p.Ser435Asn)
c.*836G>A (n.*836G>A)
c.1119G>A (n.1119G>A)
c.*801G>A (n.*801G>A)
c.1382G>A (p.Ser461Asn)
c.*662G>A (n.*662G>A)
c.1490G>A (p.Ser497Asn)
c.812G>A (p.Ser271Asn)
c.1397G>A (p.Ser466Asn)
c.1266G>A (n.1266G>A)
c.74G>A (p.Ser25Asn)
c.647G>A (p.Ser216Asn)
c.1325G>A (p.Ser442Asn)
c.1448G>A (p.Ser483Asn)
c.722G>A (p.Ser241Asn)
c.1328G>A (p.Ser443Asn)
n.2423+2766C>T
n.1687G>A
 ClinVar dbSNP
10g.18539303G>CCA376071321CACNB2,NSUN6c.1418G>C (p.Ser473Thr)
c.1283G>C (p.Ser428Thr)
c.1406G>C (p.Ser469Thr)
c.1478G>C (p.Ser493Thr)
c.1562G>C (p.Ser521Thr)
c.1400G>C (p.Ser467Thr)
c.1187G>C (p.Ser396Thr)
c.1364G>C (p.Ser455Thr)
c.*703G>C (n.*703G>C)
c.1304G>C (p.Ser435Thr)
c.*836G>C (n.*836G>C)
c.1119G>C (n.1119G>C)
c.*801G>C (n.*801G>C)
c.1382G>C (p.Ser461Thr)
c.*662G>C (n.*662G>C)
c.1490G>C (p.Ser497Thr)
c.812G>C (p.Ser271Thr)
c.1397G>C (p.Ser466Thr)
c.1266G>C (n.1266G>C)
c.74G>C (p.Ser25Thr)
c.647G>C (p.Ser216Thr)
c.1325G>C (p.Ser442Thr)
c.1448G>C (p.Ser483Thr)
c.722G>C (p.Ser241Thr)
c.1328G>C (p.Ser443Thr)
n.2423+2766C>G
n.1687G>C
 dbSNP
10g.18539303G=CA1894172942CACNB2,NSUN6c.1418G= (p.Ser473=)
c.1283G= (p.Ser428=)
c.1406G= (p.Ser469=)
c.1478G= (p.Ser493=)
c.1562G= (p.Ser521=)
c.1400G= (p.Ser467=)
c.1187G= (p.Ser396=)
c.1364G= (p.Ser455=)
c.*703G= (n.*703G=)
c.1304G= (p.Ser435=)
c.*836G= (n.*836G=)
c.1119G= (n.1119G=)
c.*801G= (n.*801G=)
c.1382G= (p.Ser461=)
c.*662G= (n.*662G=)
c.1490G= (p.Ser497=)
c.812G= (p.Ser271=)
c.1397G= (p.Ser466=)
c.1266G= (n.1266G=)
c.74G= (p.Ser25=)
c.647G= (p.Ser216=)
c.1325G= (p.Ser442=)
c.1448G= (p.Ser483=)
c.722G= (p.Ser241=)
c.1328G= (p.Ser443=)
n.2423+2766C=
n.1687G=
10g.18539303G>TCA376071319CACNB2,NSUN6c.1418G>T (p.Ser473Ile)
c.1283G>T (p.Ser428Ile)
c.1406G>T (p.Ser469Ile)
c.1478G>T (p.Ser493Ile)
c.1562G>T (p.Ser521Ile)
c.1400G>T (p.Ser467Ile)
c.1187G>T (p.Ser396Ile)
c.1364G>T (p.Ser455Ile)
c.*703G>T (n.*703G>T)
c.1304G>T (p.Ser435Ile)
c.*836G>T (n.*836G>T)
c.1119G>T (n.1119G>T)
c.*801G>T (n.*801G>T)
c.1382G>T (p.Ser461Ile)
c.*662G>T (n.*662G>T)
c.1490G>T (p.Ser497Ile)
c.812G>T (p.Ser271Ile)
c.1397G>T (p.Ser466Ile)
c.1266G>T (n.1266G>T)
c.74G>T (p.Ser25Ile)
c.647G>T (p.Ser216Ile)
c.1325G>T (p.Ser442Ile)
c.1448G>T (p.Ser483Ile)
c.722G>T (p.Ser241Ile)
c.1328G>T (p.Ser443Ile)
n.2423+2766C>A
n.1687G>T
10g.18539304T>ACA376071322CACNB2,NSUN6c.1419T>A (p.Ser473Arg)
c.1284T>A (p.Ser428Arg)
c.1407T>A (p.Ser469Arg)
c.1479T>A (p.Ser493Arg)
c.1563T>A (p.Ser521Arg)
c.1401T>A (p.Ser467Arg)
c.1188T>A (p.Ser396Arg)
c.1365T>A (p.Ser455Arg)
c.*704T>A (n.*704T>A)
c.1305T>A (p.Ser435Arg)
c.*837T>A (n.*837T>A)
c.1120T>A (n.1120T>A)
c.*802T>A (n.*802T>A)
c.1383T>A (p.Ser461Arg)
c.*663T>A (n.*663T>A)
c.1491T>A (p.Ser497Arg)
c.813T>A (p.Ser271Arg)
c.1398T>A (p.Ser466Arg)
c.1267T>A (n.1267T>A)
c.75T>A (p.Ser25Arg)
c.648T>A (p.Ser216Arg)
c.1326T>A (p.Ser442Arg)
c.1449T>A (p.Ser483Arg)
c.723T>A (p.Ser241Arg)
c.1329T>A (p.Ser443Arg)
n.2423+2765A>T
n.1688T>A
10g.18539304T>CCA203167165CACNB2,NSUN6c.1419T>C (p.Ser473=)
c.1284T>C (p.Ser428=)
c.1407T>C (p.Ser469=)
c.1479T>C (p.Ser493=)
c.1563T>C (p.Ser521=)
c.1401T>C (p.Ser467=)
c.1188T>C (p.Ser396=)
c.1365T>C (p.Ser455=)
c.*704T>C (n.*704T>C)
c.1305T>C (p.Ser435=)
c.*837T>C (n.*837T>C)
c.1120T>C (n.1120T>C)
c.*802T>C (n.*802T>C)
c.1383T>C (p.Ser461=)
c.*663T>C (n.*663T>C)
c.1491T>C (p.Ser497=)
c.813T>C (p.Ser271=)
c.1398T>C (p.Ser466=)
c.1267T>C (n.1267T>C)
c.75T>C (p.Ser25=)
c.648T>C (p.Ser216=)
c.1326T>C (p.Ser442=)
c.1449T>C (p.Ser483=)
c.723T>C (p.Ser241=)
c.1329T>C (p.Ser443=)
n.2423+2765A>G
n.1688T>C
 dbSNP gnomAD v4
10g.18539304T>GCA376071323CACNB2,NSUN6c.1419T>G (p.Ser473Arg)
c.1284T>G (p.Ser428Arg)
c.1407T>G (p.Ser469Arg)
c.1479T>G (p.Ser493Arg)
c.1563T>G (p.Ser521Arg)
c.1401T>G (p.Ser467Arg)
c.1188T>G (p.Ser396Arg)
c.1365T>G (p.Ser455Arg)
c.*704T>G (n.*704T>G)
c.1305T>G (p.Ser435Arg)
c.*837T>G (n.*837T>G)
c.1120T>G (n.1120T>G)
c.*802T>G (n.*802T>G)
c.1383T>G (p.Ser461Arg)
c.*663T>G (n.*663T>G)
c.1491T>G (p.Ser497Arg)
c.813T>G (p.Ser271Arg)
c.1398T>G (p.Ser466Arg)
c.1267T>G (n.1267T>G)
c.75T>G (p.Ser25Arg)
c.648T>G (p.Ser216Arg)
c.1326T>G (p.Ser442Arg)
c.1449T>G (p.Ser483Arg)
c.723T>G (p.Ser241Arg)
c.1329T>G (p.Ser443Arg)
n.2423+2765A>C
n.1688T>G
10g.18539304T=CA1894172956CACNB2,NSUN6c.1419T= (p.Ser473=)
c.1284T= (p.Ser428=)
c.1407T= (p.Ser469=)
c.1479T= (p.Ser493=)
c.1563T= (p.Ser521=)
c.1401T= (p.Ser467=)
c.1188T= (p.Ser396=)
c.1365T= (p.Ser455=)
c.*704T= (n.*704T=)
c.1305T= (p.Ser435=)
c.*837T= (n.*837T=)
c.1120T= (n.1120T=)
c.*802T= (n.*802T=)
c.1383T= (p.Ser461=)
c.*663T= (n.*663T=)
c.1491T= (p.Ser497=)
c.813T= (p.Ser271=)
c.1398T= (p.Ser466=)
c.1267T= (n.1267T=)
c.75T= (p.Ser25=)
c.648T= (p.Ser216=)
c.1326T= (p.Ser442=)
c.1449T= (p.Ser483=)
c.723T= (p.Ser241=)
c.1329T= (p.Ser443=)
n.2423+2765A=
n.1688T=
10g.18539305G>ACA376071324CACNB2,NSUN6c.1420G>A (p.Val474Met)
c.1285G>A (p.Val429Met)
c.1408G>A (p.Val470Met)
c.1480G>A (p.Val494Met)
c.1564G>A (p.Val522Met)
c.1402G>A (p.Val468Met)
c.1189G>A (p.Val397Met)
c.1366G>A (p.Val456Met)
c.*705G>A (n.*705G>A)
c.1306G>A (p.Val436Met)
c.*838G>A (n.*838G>A)
c.1121G>A (n.1121G>A)
c.*803G>A (n.*803G>A)
c.1384G>A (p.Val462Met)
c.*664G>A (n.*664G>A)
c.1492G>A (p.Val498Met)
c.814G>A (p.Val272Met)
c.1399G>A (p.Val467Met)
c.1268G>A (n.1268G>A)
c.76G>A (p.Val26Met)
c.649G>A (p.Val217Met)
c.1327G>A (p.Val443Met)
c.1450G>A (p.Val484Met)
c.724G>A (p.Val242Met)
c.1330G>A (p.Val444Met)
n.2423+2764C>T
n.1689G>A
 dbSNP gnomAD v4
10g.18539305G>CCA376071326CACNB2,NSUN6c.1420G>C (p.Val474Leu)
c.1285G>C (p.Val429Leu)
c.1408G>C (p.Val470Leu)
c.1480G>C (p.Val494Leu)
c.1564G>C (p.Val522Leu)
c.1402G>C (p.Val468Leu)
c.1189G>C (p.Val397Leu)
c.1366G>C (p.Val456Leu)
c.*705G>C (n.*705G>C)
c.1306G>C (p.Val436Leu)
c.*838G>C (n.*838G>C)
c.1121G>C (n.1121G>C)
c.*803G>C (n.*803G>C)
c.1384G>C (p.Val462Leu)
c.*664G>C (n.*664G>C)
c.1492G>C (p.Val498Leu)
c.814G>C (p.Val272Leu)
c.1399G>C (p.Val467Leu)
c.1268G>C (n.1268G>C)
c.76G>C (p.Val26Leu)
c.649G>C (p.Val217Leu)
c.1327G>C (p.Val443Leu)
c.1450G>C (p.Val484Leu)
c.724G>C (p.Val242Leu)
c.1330G>C (p.Val444Leu)
n.2423+2764C>G
n.1689G>C
10g.18539305G=CA1894172961CACNB2,NSUN6c.1420G= (p.Val474=)
c.1285G= (p.Val429=)
c.1408G= (p.Val470=)
c.1480G= (p.Val494=)
c.1564G= (p.Val522=)
c.1402G= (p.Val468=)
c.1189G= (p.Val397=)
c.1366G= (p.Val456=)
c.*705G= (n.*705G=)
c.1306G= (p.Val436=)
c.*838G= (n.*838G=)
c.1121G= (n.1121G=)
c.*803G= (n.*803G=)
c.1384G= (p.Val462=)
c.*664G= (n.*664G=)
c.1492G= (p.Val498=)
c.814G= (p.Val272=)
c.1399G= (p.Val467=)
c.1268G= (n.1268G=)
c.76G= (p.Val26=)
c.649G= (p.Val217=)
c.1327G= (p.Val443=)
c.1450G= (p.Val484=)
c.724G= (p.Val242=)
c.1330G= (p.Val444=)
n.2423+2764C=
n.1689G=
10g.18539305G>TCA376071328CACNB2,NSUN6c.1420G>T (p.Val474Leu)
c.1285G>T (p.Val429Leu)
c.1408G>T (p.Val470Leu)
c.1480G>T (p.Val494Leu)
c.1564G>T (p.Val522Leu)
c.1402G>T (p.Val468Leu)
c.1189G>T (p.Val397Leu)
c.1366G>T (p.Val456Leu)
c.*705G>T (n.*705G>T)
c.1306G>T (p.Val436Leu)
c.*838G>T (n.*838G>T)
c.1121G>T (n.1121G>T)
c.*803G>T (n.*803G>T)
c.1384G>T (p.Val462Leu)
c.*664G>T (n.*664G>T)
c.1492G>T (p.Val498Leu)
c.814G>T (p.Val272Leu)
c.1399G>T (p.Val467Leu)
c.1268G>T (n.1268G>T)
c.76G>T (p.Val26Leu)
c.649G>T (p.Val217Leu)
c.1327G>T (p.Val443Leu)
c.1450G>T (p.Val484Leu)
c.724G>T (p.Val242Leu)
c.1330G>T (p.Val444Leu)
n.2423+2764C>A
n.1689G>T
10g.18539306T>ACA376071329CACNB2,NSUN6c.1421T>A (p.Val474Glu)
c.1286T>A (p.Val429Glu)
c.1409T>A (p.Val470Glu)
c.1481T>A (p.Val494Glu)
c.1565T>A (p.Val522Glu)
c.1403T>A (p.Val468Glu)
c.1190T>A (p.Val397Glu)
c.1367T>A (p.Val456Glu)
c.*706T>A (n.*706T>A)
c.1307T>A (p.Val436Glu)
c.*839T>A (n.*839T>A)
c.1122T>A (n.1122T>A)
c.*804T>A (n.*804T>A)
c.1385T>A (p.Val462Glu)
c.*665T>A (n.*665T>A)
c.1493T>A (p.Val498Glu)
c.815T>A (p.Val272Glu)
c.1400T>A (p.Val467Glu)
c.1269T>A (n.1269T>A)
c.77T>A (p.Val26Glu)
c.650T>A (p.Val217Glu)
c.1328T>A (p.Val443Glu)
c.1451T>A (p.Val484Glu)
c.725T>A (p.Val242Glu)
c.1331T>A (p.Val444Glu)
n.2423+2763A>T
n.1690T>A
10g.18539306T>CCA376071330CACNB2,NSUN6c.1421T>C (p.Val474Ala)
c.1286T>C (p.Val429Ala)
c.1409T>C (p.Val470Ala)
c.1481T>C (p.Val494Ala)
c.1565T>C (p.Val522Ala)
c.1403T>C (p.Val468Ala)
c.1190T>C (p.Val397Ala)
c.1367T>C (p.Val456Ala)
c.*706T>C (n.*706T>C)
c.1307T>C (p.Val436Ala)
c.*839T>C (n.*839T>C)
c.1122T>C (n.1122T>C)
c.*804T>C (n.*804T>C)
c.1385T>C (p.Val462Ala)
c.*665T>C (n.*665T>C)
c.1493T>C (p.Val498Ala)
c.815T>C (p.Val272Ala)
c.1400T>C (p.Val467Ala)
c.1269T>C (n.1269T>C)
c.77T>C (p.Val26Ala)
c.650T>C (p.Val217Ala)
c.1328T>C (p.Val443Ala)
c.1451T>C (p.Val484Ala)
c.725T>C (p.Val242Ala)
c.1331T>C (p.Val444Ala)
n.2423+2763A>G
n.1690T>C
 dbSNP gnomAD v2 gnomAD v4
10g.18539306T>GCA376071331CACNB2,NSUN6c.1421T>G (p.Val474Gly)
c.1286T>G (p.Val429Gly)
c.1409T>G (p.Val470Gly)
c.1481T>G (p.Val494Gly)
c.1565T>G (p.Val522Gly)
c.1403T>G (p.Val468Gly)
c.1190T>G (p.Val397Gly)
c.1367T>G (p.Val456Gly)
c.*706T>G (n.*706T>G)
c.1307T>G (p.Val436Gly)
c.*839T>G (n.*839T>G)
c.1122T>G (n.1122T>G)
c.*804T>G (n.*804T>G)
c.1385T>G (p.Val462Gly)
c.*665T>G (n.*665T>G)
c.1493T>G (p.Val498Gly)
c.815T>G (p.Val272Gly)
c.1400T>G (p.Val467Gly)
c.1269T>G (n.1269T>G)
c.77T>G (p.Val26Gly)
c.650T>G (p.Val217Gly)
c.1328T>G (p.Val443Gly)
c.1451T>G (p.Val484Gly)
c.725T>G (p.Val242Gly)
c.1331T>G (p.Val444Gly)
n.2423+2763A>C
n.1690T>G
10g.18539306T=CA1894172965CACNB2,NSUN6c.1421T= (p.Val474=)
c.1286T= (p.Val429=)
c.1409T= (p.Val470=)
c.1481T= (p.Val494=)
c.1565T= (p.Val522=)
c.1403T= (p.Val468=)
c.1190T= (p.Val397=)
c.1367T= (p.Val456=)
c.*706T= (n.*706T=)
c.1307T= (p.Val436=)
c.*839T= (n.*839T=)
c.1122T= (n.1122T=)
c.*804T= (n.*804T=)
c.1385T= (p.Val462=)
c.*665T= (n.*665T=)
c.1493T= (p.Val498=)
c.815T= (p.Val272=)
c.1400T= (p.Val467=)
c.1269T= (n.1269T=)
c.77T= (p.Val26=)
c.650T= (p.Val217=)
c.1328T= (p.Val443=)
c.1451T= (p.Val484=)
c.725T= (p.Val242=)
c.1331T= (p.Val444=)
n.2423+2763A=
n.1690T=
10g.18539307G>ACA468627367CACNB2,NSUN6c.1422G>A (p.Val474=)
c.1287G>A (p.Val429=)
c.1410G>A (p.Val470=)
c.1482G>A (p.Val494=)
c.1566G>A (p.Val522=)
c.1404G>A (p.Val468=)
c.1191G>A (p.Val397=)
c.1368G>A (p.Val456=)
c.*707G>A (n.*707G>A)
c.1308G>A (p.Val436=)
c.*840G>A (n.*840G>A)
c.1123G>A (n.1123G>A)
c.*805G>A (n.*805G>A)
c.1386G>A (p.Val462=)
c.*666G>A (n.*666G>A)
c.1494G>A (p.Val498=)
c.816G>A (p.Val272=)
c.1401G>A (p.Val467=)
c.1270G>A (n.1270G>A)
c.78G>A (p.Val26=)
c.651G>A (p.Val217=)
c.1329G>A (p.Val443=)
c.1452G>A (p.Val484=)
c.726G>A (p.Val242=)
c.1332G>A (p.Val444=)
n.2423+2762C>T
n.1691G>A
 gnomAD v4
10g.18539307G>CCA468627370CACNB2,NSUN6c.1422G>C (p.Val474=)
c.1287G>C (p.Val429=)
c.1410G>C (p.Val470=)
c.1482G>C (p.Val494=)
c.1566G>C (p.Val522=)
c.1404G>C (p.Val468=)
c.1191G>C (p.Val397=)
c.1368G>C (p.Val456=)
c.*707G>C (n.*707G>C)
c.1308G>C (p.Val436=)
c.*840G>C (n.*840G>C)
c.1123G>C (n.1123G>C)
c.*805G>C (n.*805G>C)
c.1386G>C (p.Val462=)
c.*666G>C (n.*666G>C)
c.1494G>C (p.Val498=)
c.816G>C (p.Val272=)
c.1401G>C (p.Val467=)
c.1270G>C (n.1270G>C)
c.78G>C (p.Val26=)
c.651G>C (p.Val217=)
c.1329G>C (p.Val443=)
c.1452G>C (p.Val484=)
c.726G>C (p.Val242=)
c.1332G>C (p.Val444=)
n.2423+2762C>G
n.1691G>C
10g.18539307G>TCA468627373CACNB2,NSUN6c.1422G>T (p.Val474=)
c.1287G>T (p.Val429=)
c.1410G>T (p.Val470=)
c.1482G>T (p.Val494=)
c.1566G>T (p.Val522=)
c.1404G>T (p.Val468=)
c.1191G>T (p.Val397=)
c.1368G>T (p.Val456=)
c.*707G>T (n.*707G>T)
c.1308G>T (p.Val436=)
c.*840G>T (n.*840G>T)
c.1123G>T (n.1123G>T)
c.*805G>T (n.*805G>T)
c.1386G>T (p.Val462=)
c.*666G>T (n.*666G>T)
c.1494G>T (p.Val498=)
c.816G>T (p.Val272=)
c.1401G>T (p.Val467=)
c.1270G>T (n.1270G>T)
c.78G>T (p.Val26=)
c.651G>T (p.Val217=)
c.1329G>T (p.Val443=)
c.1452G>T (p.Val484=)
c.726G>T (p.Val242=)
c.1332G>T (p.Val444=)
n.2423+2762C>A
n.1691G>T
10g.18539308G>ACA376071333CACNB2,NSUN6c.1423G>A (p.Glu475Lys)
c.1288G>A (p.Glu430Lys)
c.1411G>A (p.Glu471Lys)
c.1483G>A (p.Glu495Lys)
c.1567G>A (p.Glu523Lys)
c.1405G>A (p.Glu469Lys)
c.1192G>A (p.Glu398Lys)
c.1369G>A (p.Glu457Lys)
c.*708G>A (n.*708G>A)
c.1309G>A (p.Glu437Lys)
c.*841G>A (n.*841G>A)
c.1124G>A (n.1124G>A)
c.*806G>A (n.*806G>A)
c.1387G>A (p.Glu463Lys)
c.*667G>A (n.*667G>A)
c.1495G>A (p.Glu499Lys)
c.817G>A (p.Glu273Lys)
c.1402G>A (p.Glu468Lys)
c.1271G>A (n.1271G>A)
c.79G>A (p.Glu27Lys)
c.652G>A (p.Glu218Lys)
c.1330G>A (p.Glu444Lys)
c.1453G>A (p.Glu485Lys)
c.727G>A (p.Glu243Lys)
c.1333G>A (p.Glu445Lys)
n.2423+2761C>T
n.1692G>A
10g.18539308G>CCA5430098CACNB2,NSUN6c.1423G>C (p.Glu475Gln)
c.1288G>C (p.Glu430Gln)
c.1411G>C (p.Glu471Gln)
c.1483G>C (p.Glu495Gln)
c.1567G>C (p.Glu523Gln)
c.1405G>C (p.Glu469Gln)
c.1192G>C (p.Glu398Gln)
c.1369G>C (p.Glu457Gln)
c.*708G>C (n.*708G>C)
c.1309G>C (p.Glu437Gln)
c.*841G>C (n.*841G>C)
c.1124G>C (n.1124G>C)
c.*806G>C (n.*806G>C)
c.1387G>C (p.Glu463Gln)
c.*667G>C (n.*667G>C)
c.1495G>C (p.Glu499Gln)
c.817G>C (p.Glu273Gln)
c.1402G>C (p.Glu468Gln)
c.1271G>C (n.1271G>C)
c.79G>C (p.Glu27Gln)
c.652G>C (p.Glu218Gln)
c.1330G>C (p.Glu444Gln)
c.1453G>C (p.Glu485Gln)
c.727G>C (p.Glu243Gln)
c.1333G>C (p.Glu445Gln)
n.2423+2761C>G
n.1692G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539308G=CA1894172971CACNB2,NSUN6c.1423G= (p.Glu475=)
c.1288G= (p.Glu430=)
c.1411G= (p.Glu471=)
c.1483G= (p.Glu495=)
c.1567G= (p.Glu523=)
c.1405G= (p.Glu469=)
c.1192G= (p.Glu398=)
c.1369G= (p.Glu457=)
c.*708G= (n.*708G=)
c.1309G= (p.Glu437=)
c.*841G= (n.*841G=)
c.1124G= (n.1124G=)
c.*806G= (n.*806G=)
c.1387G= (p.Glu463=)
c.*667G= (n.*667G=)
c.1495G= (p.Glu499=)
c.817G= (p.Glu273=)
c.1402G= (p.Glu468=)
c.1271G= (n.1271G=)
c.79G= (p.Glu27=)
c.652G= (p.Glu218=)
c.1330G= (p.Glu444=)
c.1453G= (p.Glu485=)
c.727G= (p.Glu243=)
c.1333G= (p.Glu445=)
n.2423+2761C=
n.1692G=
10g.18539308G>TCA376071334CACNB2,NSUN6c.1423G>T (p.Glu475Ter)
c.1288G>T (p.Glu430Ter)
c.1411G>T (p.Glu471Ter)
c.1483G>T (p.Glu495Ter)
c.1567G>T (p.Glu523Ter)
c.1405G>T (p.Glu469Ter)
c.1192G>T (p.Glu398Ter)
c.1369G>T (p.Glu457Ter)
c.*708G>T (n.*708G>T)
c.1309G>T (p.Glu437Ter)
c.*841G>T (n.*841G>T)
c.1124G>T (n.1124G>T)
c.*806G>T (n.*806G>T)
c.1387G>T (p.Glu463Ter)
c.*667G>T (n.*667G>T)
c.1495G>T (p.Glu499Ter)
c.817G>T (p.Glu273Ter)
c.1402G>T (p.Glu468Ter)
c.1271G>T (n.1271G>T)
c.79G>T (p.Glu27Ter)
c.652G>T (p.Glu218Ter)
c.1330G>T (p.Glu444Ter)
c.1453G>T (p.Glu485Ter)
c.727G>T (p.Glu243Ter)
c.1333G>T (p.Glu445Ter)
n.2423+2761C>A
n.1692G>T
 dbSNP
10g.18539309A>CCA376071339CACNB2,NSUN6c.1424A>C (p.Glu475Ala)
c.1289A>C (p.Glu430Ala)
c.1412A>C (p.Glu471Ala)
c.1484A>C (p.Glu495Ala)
c.1568A>C (p.Glu523Ala)
c.1406A>C (p.Glu469Ala)
c.1193A>C (p.Glu398Ala)
c.1370A>C (p.Glu457Ala)
c.*709A>C (n.*709A>C)
c.1310A>C (p.Glu437Ala)
c.*842A>C (n.*842A>C)
c.1125A>C (n.1125A>C)
c.*807A>C (n.*807A>C)
c.1388A>C (p.Glu463Ala)
c.*668A>C (n.*668A>C)
c.1496A>C (p.Glu499Ala)
c.818A>C (p.Glu273Ala)
c.1403A>C (p.Glu468Ala)
c.1272A>C (n.1272A>C)
c.80A>C (p.Glu27Ala)
c.653A>C (p.Glu218Ala)
c.1331A>C (p.Glu444Ala)
c.1454A>C (p.Glu485Ala)
c.728A>C (p.Glu243Ala)
c.1334A>C (p.Glu445Ala)
n.2423+2760T>G
n.1693A>C
10g.18539309A>GCA376071335CACNB2,NSUN6c.1424A>G (p.Glu475Gly)
c.1289A>G (p.Glu430Gly)
c.1412A>G (p.Glu471Gly)
c.1484A>G (p.Glu495Gly)
c.1568A>G (p.Glu523Gly)
c.1406A>G (p.Glu469Gly)
c.1193A>G (p.Glu398Gly)
c.1370A>G (p.Glu457Gly)
c.*709A>G (n.*709A>G)
c.1310A>G (p.Glu437Gly)
c.*842A>G (n.*842A>G)
c.1125A>G (n.1125A>G)
c.*807A>G (n.*807A>G)
c.1388A>G (p.Glu463Gly)
c.*668A>G (n.*668A>G)
c.1496A>G (p.Glu499Gly)
c.818A>G (p.Glu273Gly)
c.1403A>G (p.Glu468Gly)
c.1272A>G (n.1272A>G)
c.80A>G (p.Glu27Gly)
c.653A>G (p.Glu218Gly)
c.1331A>G (p.Glu444Gly)
c.1454A>G (p.Glu485Gly)
c.728A>G (p.Glu243Gly)
c.1334A>G (p.Glu445Gly)
n.2423+2760T>C
n.1693A>G
10g.18539309A>TCA376071337CACNB2,NSUN6c.1424A>T (p.Glu475Val)
c.1289A>T (p.Glu430Val)
c.1412A>T (p.Glu471Val)
c.1484A>T (p.Glu495Val)
c.1568A>T (p.Glu523Val)
c.1406A>T (p.Glu469Val)
c.1193A>T (p.Glu398Val)
c.1370A>T (p.Glu457Val)
c.*709A>T (n.*709A>T)
c.1310A>T (p.Glu437Val)
c.*842A>T (n.*842A>T)
c.1125A>T (n.1125A>T)
c.*807A>T (n.*807A>T)
c.1388A>T (p.Glu463Val)
c.*668A>T (n.*668A>T)
c.1496A>T (p.Glu499Val)
c.818A>T (p.Glu273Val)
c.1403A>T (p.Glu468Val)
c.1272A>T (n.1272A>T)
c.80A>T (p.Glu27Val)
c.653A>T (p.Glu218Val)
c.1331A>T (p.Glu444Val)
c.1454A>T (p.Glu485Val)
c.728A>T (p.Glu243Val)
c.1334A>T (p.Glu445Val)
n.2423+2760T>A
n.1693A>T
10g.18539310A>CCA376071340CACNB2,NSUN6c.1425A>C (p.Glu475Asp)
c.1290A>C (p.Glu430Asp)
c.1413A>C (p.Glu471Asp)
c.1485A>C (p.Glu495Asp)
c.1569A>C (p.Glu523Asp)
c.1407A>C (p.Glu469Asp)
c.1194A>C (p.Glu398Asp)
c.1371A>C (p.Glu457Asp)
c.*710A>C (n.*710A>C)
c.1311A>C (p.Glu437Asp)
c.*843A>C (n.*843A>C)
c.1126A>C (n.1126A>C)
c.*808A>C (n.*808A>C)
c.1389A>C (p.Glu463Asp)
c.*669A>C (n.*669A>C)
c.1497A>C (p.Glu499Asp)
c.819A>C (p.Glu273Asp)
c.1404A>C (p.Glu468Asp)
c.1273A>C (n.1273A>C)
c.81A>C (p.Glu27Asp)
c.654A>C (p.Glu218Asp)
c.1332A>C (p.Glu444Asp)
c.1455A>C (p.Glu485Asp)
c.729A>C (p.Glu243Asp)
c.1335A>C (p.Glu445Asp)
n.2423+2759T>G
n.1694A>C
10g.18539310A>GCA468627387CACNB2,NSUN6c.1425A>G (p.Glu475=)
c.1290A>G (p.Glu430=)
c.1413A>G (p.Glu471=)
c.1485A>G (p.Glu495=)
c.1569A>G (p.Glu523=)
c.1407A>G (p.Glu469=)
c.1194A>G (p.Glu398=)
c.1371A>G (p.Glu457=)
c.*710A>G (n.*710A>G)
c.1311A>G (p.Glu437=)
c.*843A>G (n.*843A>G)
c.1126A>G (n.1126A>G)
c.*808A>G (n.*808A>G)
c.1389A>G (p.Glu463=)
c.*669A>G (n.*669A>G)
c.1497A>G (p.Glu499=)
c.819A>G (p.Glu273=)
c.1404A>G (p.Glu468=)
c.1273A>G (n.1273A>G)
c.81A>G (p.Glu27=)
c.654A>G (p.Glu218=)
c.1332A>G (p.Glu444=)
c.1455A>G (p.Glu485=)
c.729A>G (p.Glu243=)
c.1335A>G (p.Glu445=)
n.2423+2759T>C
n.1694A>G
10g.18539310A>TCA376071342CACNB2,NSUN6c.1425A>T (p.Glu475Asp)
c.1290A>T (p.Glu430Asp)
c.1413A>T (p.Glu471Asp)
c.1485A>T (p.Glu495Asp)
c.1569A>T (p.Glu523Asp)
c.1407A>T (p.Glu469Asp)
c.1194A>T (p.Glu398Asp)
c.1371A>T (p.Glu457Asp)
c.*710A>T (n.*710A>T)
c.1311A>T (p.Glu437Asp)
c.*843A>T (n.*843A>T)
c.1126A>T (n.1126A>T)
c.*808A>T (n.*808A>T)
c.1389A>T (p.Glu463Asp)
c.*669A>T (n.*669A>T)
c.1497A>T (p.Glu499Asp)
c.819A>T (p.Glu273Asp)
c.1404A>T (p.Glu468Asp)
c.1273A>T (n.1273A>T)
c.81A>T (p.Glu27Asp)
c.654A>T (p.Glu218Asp)
c.1332A>T (p.Glu444Asp)
c.1455A>T (p.Glu485Asp)
c.729A>T (p.Glu243Asp)
c.1335A>T (p.Glu445Asp)
n.2423+2759T>A
n.1694A>T
10g.18539311C>ACA376071343CACNB2,NSUN6c.1426C>A (p.Pro476Thr)
c.1291C>A (p.Pro431Thr)
c.1414C>A (p.Pro472Thr)
c.1486C>A (p.Pro496Thr)
c.1570C>A (p.Pro524Thr)
c.1408C>A (p.Pro470Thr)
c.1195C>A (p.Pro399Thr)
c.1372C>A (p.Pro458Thr)
c.*711C>A (n.*711C>A)
c.1312C>A (p.Pro438Thr)
c.*844C>A (n.*844C>A)
c.1127C>A (n.1127C>A)
c.*809C>A (n.*809C>A)
c.1390C>A (p.Pro464Thr)
c.*670C>A (n.*670C>A)
c.1498C>A (p.Pro500Thr)
c.820C>A (p.Pro274Thr)
c.1405C>A (p.Pro469Thr)
c.1274C>A (n.1274C>A)
c.82C>A (p.Pro28Thr)
c.655C>A (p.Pro219Thr)
c.1333C>A (p.Pro445Thr)
c.1456C>A (p.Pro486Thr)
c.730C>A (p.Pro244Thr)
c.1336C>A (p.Pro446Thr)
n.2423+2758G>T
n.1695C>A
 dbSNP gnomAD v2 gnomAD v4
10g.18539311C=CA1894172977CACNB2,NSUN6c.1426C= (p.Pro476=)
c.1291C= (p.Pro431=)
c.1414C= (p.Pro472=)
c.1486C= (p.Pro496=)
c.1570C= (p.Pro524=)
c.1408C= (p.Pro470=)
c.1195C= (p.Pro399=)
c.1372C= (p.Pro458=)
c.*711C= (n.*711C=)
c.1312C= (p.Pro438=)
c.*844C= (n.*844C=)
c.1127C= (n.1127C=)
c.*809C= (n.*809C=)
c.1390C= (p.Pro464=)
c.*670C= (n.*670C=)
c.1498C= (p.Pro500=)
c.820C= (p.Pro274=)
c.1405C= (p.Pro469=)
c.1274C= (n.1274C=)
c.82C= (p.Pro28=)
c.655C= (p.Pro219=)
c.1333C= (p.Pro445=)
c.1456C= (p.Pro486=)
c.730C= (p.Pro244=)
c.1336C= (p.Pro446=)
n.2423+2758G=
n.1695C=
10g.18539311C>GCA376071344CACNB2,NSUN6c.1426C>G (p.Pro476Ala)
c.1291C>G (p.Pro431Ala)
c.1414C>G (p.Pro472Ala)
c.1486C>G (p.Pro496Ala)
c.1570C>G (p.Pro524Ala)
c.1408C>G (p.Pro470Ala)
c.1195C>G (p.Pro399Ala)
c.1372C>G (p.Pro458Ala)
c.*711C>G (n.*711C>G)
c.1312C>G (p.Pro438Ala)
c.*844C>G (n.*844C>G)
c.1127C>G (n.1127C>G)
c.*809C>G (n.*809C>G)
c.1390C>G (p.Pro464Ala)
c.*670C>G (n.*670C>G)
c.1498C>G (p.Pro500Ala)
c.820C>G (p.Pro274Ala)
c.1405C>G (p.Pro469Ala)
c.1274C>G (n.1274C>G)
c.82C>G (p.Pro28Ala)
c.655C>G (p.Pro219Ala)
c.1333C>G (p.Pro445Ala)
c.1456C>G (p.Pro486Ala)
c.730C>G (p.Pro244Ala)
c.1336C>G (p.Pro446Ala)
n.2423+2758G>C
n.1695C>G
 dbSNP gnomAD v2 gnomAD v4
10g.18539311C>TCA376071345CACNB2,NSUN6c.1426C>T (p.Pro476Ser)
c.1291C>T (p.Pro431Ser)
c.1414C>T (p.Pro472Ser)
c.1486C>T (p.Pro496Ser)
c.1570C>T (p.Pro524Ser)
c.1408C>T (p.Pro470Ser)
c.1195C>T (p.Pro399Ser)
c.1372C>T (p.Pro458Ser)
c.*711C>T (n.*711C>T)
c.1312C>T (p.Pro438Ser)
c.*844C>T (n.*844C>T)
c.1127C>T (n.1127C>T)
c.*809C>T (n.*809C>T)
c.1390C>T (p.Pro464Ser)
c.*670C>T (n.*670C>T)
c.1498C>T (p.Pro500Ser)
c.820C>T (p.Pro274Ser)
c.1405C>T (p.Pro469Ser)
c.1274C>T (n.1274C>T)
c.82C>T (p.Pro28Ser)
c.655C>T (p.Pro219Ser)
c.1333C>T (p.Pro445Ser)
c.1456C>T (p.Pro486Ser)
c.730C>T (p.Pro244Ser)
c.1336C>T (p.Pro446Ser)
n.2423+2758G>A
n.1695C>T
 ClinVar dbSNP gnomAD v4
10g.18539312C>ACA376071347CACNB2,NSUN6c.1427C>A (p.Pro476Gln)
c.1292C>A (p.Pro431Gln)
c.1415C>A (p.Pro472Gln)
c.1487C>A (p.Pro496Gln)
c.1571C>A (p.Pro524Gln)
c.1409C>A (p.Pro470Gln)
c.1196C>A (p.Pro399Gln)
c.1373C>A (p.Pro458Gln)
c.*712C>A (n.*712C>A)
c.1313C>A (p.Pro438Gln)
c.*845C>A (n.*845C>A)
c.1128C>A (n.1128C>A)
c.*810C>A (n.*810C>A)
c.1391C>A (p.Pro464Gln)
c.*671C>A (n.*671C>A)
c.1499C>A (p.Pro500Gln)
c.821C>A (p.Pro274Gln)
c.1406C>A (p.Pro469Gln)
c.1275C>A (n.1275C>A)
c.83C>A (p.Pro28Gln)
c.656C>A (p.Pro219Gln)
c.1334C>A (p.Pro445Gln)
c.1457C>A (p.Pro486Gln)
c.731C>A (p.Pro244Gln)
c.1337C>A (p.Pro446Gln)
n.2423+2757G>T
n.1696C>A
10g.18539312C=CA1894172980CACNB2,NSUN6c.1427C= (p.Pro476=)
c.1292C= (p.Pro431=)
c.1415C= (p.Pro472=)
c.1487C= (p.Pro496=)
c.1571C= (p.Pro524=)
c.1409C= (p.Pro470=)
c.1196C= (p.Pro399=)
c.1373C= (p.Pro458=)
c.*712C= (n.*712C=)
c.1313C= (p.Pro438=)
c.*845C= (n.*845C=)
c.1128C= (n.1128C=)
c.*810C= (n.*810C=)
c.1391C= (p.Pro464=)
c.*671C= (n.*671C=)
c.1499C= (p.Pro500=)
c.821C= (p.Pro274=)
c.1406C= (p.Pro469=)
c.1275C= (n.1275C=)
c.83C= (p.Pro28=)
c.656C= (p.Pro219=)
c.1334C= (p.Pro445=)
c.1457C= (p.Pro486=)
c.731C= (p.Pro244=)
c.1337C= (p.Pro446=)
n.2423+2757G=
n.1696C=
10g.18539312C>GCA376071349CACNB2,NSUN6c.1427C>G (p.Pro476Arg)
c.1292C>G (p.Pro431Arg)
c.1415C>G (p.Pro472Arg)
c.1487C>G (p.Pro496Arg)
c.1571C>G (p.Pro524Arg)
c.1409C>G (p.Pro470Arg)
c.1196C>G (p.Pro399Arg)
c.1373C>G (p.Pro458Arg)
c.*712C>G (n.*712C>G)
c.1313C>G (p.Pro438Arg)
c.*845C>G (n.*845C>G)
c.1128C>G (n.1128C>G)
c.*810C>G (n.*810C>G)
c.1391C>G (p.Pro464Arg)
c.*671C>G (n.*671C>G)
c.1499C>G (p.Pro500Arg)
c.821C>G (p.Pro274Arg)
c.1406C>G (p.Pro469Arg)
c.1275C>G (n.1275C>G)
c.83C>G (p.Pro28Arg)
c.656C>G (p.Pro219Arg)
c.1334C>G (p.Pro445Arg)
c.1457C>G (p.Pro486Arg)
c.731C>G (p.Pro244Arg)
c.1337C>G (p.Pro446Arg)
n.2423+2757G>C
n.1696C>G
 ClinVar dbSNP gnomAD v4
10g.18539312C>TCA376071350CACNB2,NSUN6c.1427C>T (p.Pro476Leu)
c.1292C>T (p.Pro431Leu)
c.1415C>T (p.Pro472Leu)
c.1487C>T (p.Pro496Leu)
c.1571C>T (p.Pro524Leu)
c.1409C>T (p.Pro470Leu)
c.1196C>T (p.Pro399Leu)
c.1373C>T (p.Pro458Leu)
c.*712C>T (n.*712C>T)
c.1313C>T (p.Pro438Leu)
c.*845C>T (n.*845C>T)
c.1128C>T (n.1128C>T)
c.*810C>T (n.*810C>T)
c.1391C>T (p.Pro464Leu)
c.*671C>T (n.*671C>T)
c.1499C>T (p.Pro500Leu)
c.821C>T (p.Pro274Leu)
c.1406C>T (p.Pro469Leu)
c.1275C>T (n.1275C>T)
c.83C>T (p.Pro28Leu)
c.656C>T (p.Pro219Leu)
c.1334C>T (p.Pro445Leu)
c.1457C>T (p.Pro486Leu)
c.731C>T (p.Pro244Leu)
c.1337C>T (p.Pro446Leu)
n.2423+2757G>A
n.1696C>T
 dbSNP
10g.18539313A>CCA468627402CACNB2,NSUN6c.1428A>C (p.Pro476=)
c.1293A>C (p.Pro431=)
c.1416A>C (p.Pro472=)
c.1488A>C (p.Pro496=)
c.1572A>C (p.Pro524=)
c.1410A>C (p.Pro470=)
c.1197A>C (p.Pro399=)
c.1374A>C (p.Pro458=)
c.*713A>C (n.*713A>C)
c.1314A>C (p.Pro438=)
c.*846A>C (n.*846A>C)
c.1129A>C (n.1129A>C)
c.*811A>C (n.*811A>C)
c.1392A>C (p.Pro464=)
c.*672A>C (n.*672A>C)
c.1500A>C (p.Pro500=)
c.822A>C (p.Pro274=)
c.1407A>C (p.Pro469=)
c.1276A>C (n.1276A>C)
c.84A>C (p.Pro28=)
c.657A>C (p.Pro219=)
c.1335A>C (p.Pro445=)
c.1458A>C (p.Pro486=)
c.732A>C (p.Pro244=)
c.1338A>C (p.Pro446=)
n.2423+2756T>G
n.1697A>C
10g.18539313A>GCA468627409CACNB2,NSUN6c.1428A>G (p.Pro476=)
c.1293A>G (p.Pro431=)
c.1416A>G (p.Pro472=)
c.1488A>G (p.Pro496=)
c.1572A>G (p.Pro524=)
c.1410A>G (p.Pro470=)
c.1197A>G (p.Pro399=)
c.1374A>G (p.Pro458=)
c.*713A>G (n.*713A>G)
c.1314A>G (p.Pro438=)
c.*846A>G (n.*846A>G)
c.1129A>G (n.1129A>G)
c.*811A>G (n.*811A>G)
c.1392A>G (p.Pro464=)
c.*672A>G (n.*672A>G)
c.1500A>G (p.Pro500=)
c.822A>G (p.Pro274=)
c.1407A>G (p.Pro469=)
c.1276A>G (n.1276A>G)
c.84A>G (p.Pro28=)
c.657A>G (p.Pro219=)
c.1335A>G (p.Pro445=)
c.1458A>G (p.Pro486=)
c.732A>G (p.Pro244=)
c.1338A>G (p.Pro446=)
n.2423+2756T>C
n.1697A>G
10g.18539313A>TCA468627411CACNB2,NSUN6c.1428A>T (p.Pro476=)
c.1293A>T (p.Pro431=)
c.1416A>T (p.Pro472=)
c.1488A>T (p.Pro496=)
c.1572A>T (p.Pro524=)
c.1410A>T (p.Pro470=)
c.1197A>T (p.Pro399=)
c.1374A>T (p.Pro458=)
c.*713A>T (n.*713A>T)
c.1314A>T (p.Pro438=)
c.*846A>T (n.*846A>T)
c.1129A>T (n.1129A>T)
c.*811A>T (n.*811A>T)
c.1392A>T (p.Pro464=)
c.*672A>T (n.*672A>T)
c.1500A>T (p.Pro500=)
c.822A>T (p.Pro274=)
c.1407A>T (p.Pro469=)
c.1276A>T (n.1276A>T)
c.84A>T (p.Pro28=)
c.657A>T (p.Pro219=)
c.1335A>T (p.Pro445=)
c.1458A>T (p.Pro486=)
c.732A>T (p.Pro244=)
c.1338A>T (p.Pro446=)
n.2423+2756T>A
n.1697A>T
10g.18539314G>ACA5430099CACNB2,NSUN6c.1429G>A (p.Val477Ile)
c.1294G>A (p.Val432Ile)
c.1417G>A (p.Val473Ile)
c.1489G>A (p.Val497Ile)
c.1573G>A (p.Val525Ile)
c.1411G>A (p.Val471Ile)
c.1198G>A (p.Val400Ile)
c.1375G>A (p.Val459Ile)
c.*714G>A (n.*714G>A)
c.1315G>A (p.Val439Ile)
c.*847G>A (n.*847G>A)
c.1130G>A (n.1130G>A)
c.*812G>A (n.*812G>A)
c.1393G>A (p.Val465Ile)
c.*673G>A (n.*673G>A)
c.1501G>A (p.Val501Ile)
c.823G>A (p.Val275Ile)
c.1408G>A (p.Val470Ile)
c.1277G>A (n.1277G>A)
c.85G>A (p.Val29Ile)
c.658G>A (p.Val220Ile)
c.1336G>A (p.Val446Ile)
c.1459G>A (p.Val487Ile)
c.733G>A (p.Val245Ile)
c.1339G>A (p.Val447Ile)
n.2423+2755C>T
n.1698G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539314G>CCA376071351CACNB2,NSUN6c.1429G>C (p.Val477Leu)
c.1294G>C (p.Val432Leu)
c.1417G>C (p.Val473Leu)
c.1489G>C (p.Val497Leu)
c.1573G>C (p.Val525Leu)
c.1411G>C (p.Val471Leu)
c.1198G>C (p.Val400Leu)
c.1375G>C (p.Val459Leu)
c.*714G>C (n.*714G>C)
c.1315G>C (p.Val439Leu)
c.*847G>C (n.*847G>C)
c.1130G>C (n.1130G>C)
c.*812G>C (n.*812G>C)
c.1393G>C (p.Val465Leu)
c.*673G>C (n.*673G>C)
c.1501G>C (p.Val501Leu)
c.823G>C (p.Val275Leu)
c.1408G>C (p.Val470Leu)
c.1277G>C (n.1277G>C)
c.85G>C (p.Val29Leu)
c.658G>C (p.Val220Leu)
c.1336G>C (p.Val446Leu)
c.1459G>C (p.Val487Leu)
c.733G>C (p.Val245Leu)
c.1339G>C (p.Val447Leu)
n.2423+2755C>G
n.1698G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.18539314G=CA1894172986CACNB2,NSUN6c.1429G= (p.Val477=)
c.1294G= (p.Val432=)
c.1417G= (p.Val473=)
c.1489G= (p.Val497=)
c.1573G= (p.Val525=)
c.1411G= (p.Val471=)
c.1198G= (p.Val400=)
c.1375G= (p.Val459=)
c.*714G= (n.*714G=)
c.1315G= (p.Val439=)
c.*847G= (n.*847G=)
c.1130G= (n.1130G=)
c.*812G= (n.*812G=)
c.1393G= (p.Val465=)
c.*673G= (n.*673G=)
c.1501G= (p.Val501=)
c.823G= (p.Val275=)
c.1408G= (p.Val470=)
c.1277G= (n.1277G=)
c.85G= (p.Val29=)
c.658G= (p.Val220=)
c.1336G= (p.Val446=)
c.1459G= (p.Val487=)
c.733G= (p.Val245=)
c.1339G= (p.Val447=)
n.2423+2755C=
n.1698G=
10g.18539314G>TCA376071354CACNB2,NSUN6c.1429G>T (p.Val477Phe)
c.1294G>T (p.Val432Phe)
c.1417G>T (p.Val473Phe)
c.1489G>T (p.Val497Phe)
c.1573G>T (p.Val525Phe)
c.1411G>T (p.Val471Phe)
c.1198G>T (p.Val400Phe)
c.1375G>T (p.Val459Phe)
c.*714G>T (n.*714G>T)
c.1315G>T (p.Val439Phe)
c.*847G>T (n.*847G>T)
c.1130G>T (n.1130G>T)
c.*812G>T (n.*812G>T)
c.1393G>T (p.Val465Phe)
c.*673G>T (n.*673G>T)
c.1501G>T (p.Val501Phe)
c.823G>T (p.Val275Phe)
c.1408G>T (p.Val470Phe)
c.1277G>T (n.1277G>T)
c.85G>T (p.Val29Phe)
c.658G>T (p.Val220Phe)
c.1336G>T (p.Val446Phe)
c.1459G>T (p.Val487Phe)
c.733G>T (p.Val245Phe)
c.1339G>T (p.Val447Phe)
n.2423+2755C>A
n.1698G>T
 gnomAD v4
10g.18539315T>ACA376071358CACNB2,NSUN6c.1430T>A (p.Val477Asp)
c.1295T>A (p.Val432Asp)
c.1418T>A (p.Val473Asp)
c.1490T>A (p.Val497Asp)
c.1574T>A (p.Val525Asp)
c.1412T>A (p.Val471Asp)
c.1199T>A (p.Val400Asp)
c.1376T>A (p.Val459Asp)
c.*715T>A (n.*715T>A)
c.1316T>A (p.Val439Asp)
c.*848T>A (n.*848T>A)
c.1131T>A (n.1131T>A)
c.*813T>A (n.*813T>A)
c.1394T>A (p.Val465Asp)
c.*674T>A (n.*674T>A)
c.1502T>A (p.Val501Asp)
c.824T>A (p.Val275Asp)
c.1409T>A (p.Val470Asp)
c.1278T>A (n.1278T>A)
c.86T>A (p.Val29Asp)
c.659T>A (p.Val220Asp)
c.1337T>A (p.Val446Asp)
c.1460T>A (p.Val487Asp)
c.734T>A (p.Val245Asp)
c.1340T>A (p.Val447Asp)
n.2423+2754A>T
n.1699T>A
 ClinVar
10g.18539315T>CCA376071357CACNB2,NSUN6c.1430T>C (p.Val477Ala)
c.1295T>C (p.Val432Ala)
c.1418T>C (p.Val473Ala)
c.1490T>C (p.Val497Ala)
c.1574T>C (p.Val525Ala)
c.1412T>C (p.Val471Ala)
c.1199T>C (p.Val400Ala)
c.1376T>C (p.Val459Ala)
c.*715T>C (n.*715T>C)
c.1316T>C (p.Val439Ala)
c.*848T>C (n.*848T>C)
c.1131T>C (n.1131T>C)
c.*813T>C (n.*813T>C)
c.1394T>C (p.Val465Ala)
c.*674T>C (n.*674T>C)
c.1502T>C (p.Val501Ala)
c.824T>C (p.Val275Ala)
c.1409T>C (p.Val470Ala)
c.1278T>C (n.1278T>C)
c.86T>C (p.Val29Ala)
c.659T>C (p.Val220Ala)
c.1337T>C (p.Val446Ala)
c.1460T>C (p.Val487Ala)
c.734T>C (p.Val245Ala)
c.1340T>C (p.Val447Ala)
n.2423+2754A>G
n.1699T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.18539315T>GCA376071355CACNB2,NSUN6c.1430T>G (p.Val477Gly)
c.1295T>G (p.Val432Gly)
c.1418T>G (p.Val473Gly)
c.1490T>G (p.Val497Gly)
c.1574T>G (p.Val525Gly)
c.1412T>G (p.Val471Gly)
c.1199T>G (p.Val400Gly)
c.1376T>G (p.Val459Gly)
c.*715T>G (n.*715T>G)
c.1316T>G (p.Val439Gly)
c.*848T>G (n.*848T>G)
c.1131T>G (n.1131T>G)
c.*813T>G (n.*813T>G)
c.1394T>G (p.Val465Gly)
c.*674T>G (n.*674T>G)
c.1502T>G (p.Val501Gly)
c.824T>G (p.Val275Gly)
c.1409T>G (p.Val470Gly)
c.1278T>G (n.1278T>G)
c.86T>G (p.Val29Gly)
c.659T>G (p.Val220Gly)
c.1337T>G (p.Val446Gly)
c.1460T>G (p.Val487Gly)
c.734T>G (p.Val245Gly)
c.1340T>G (p.Val447Gly)
n.2423+2754A>C
n.1699T>G
10g.18539315T=CA1894172991CACNB2,NSUN6c.1430T= (p.Val477=)
c.1295T= (p.Val432=)
c.1418T= (p.Val473=)
c.1490T= (p.Val497=)
c.1574T= (p.Val525=)
c.1412T= (p.Val471=)
c.1199T= (p.Val400=)
c.1376T= (p.Val459=)
c.*715T= (n.*715T=)
c.1316T= (p.Val439=)
c.*848T= (n.*848T=)
c.1131T= (n.1131T=)
c.*813T= (n.*813T=)
c.1394T= (p.Val465=)
c.*674T= (n.*674T=)
c.1502T= (p.Val501=)
c.824T= (p.Val275=)
c.1409T= (p.Val470=)
c.1278T= (n.1278T=)
c.86T= (p.Val29=)
c.659T= (p.Val220=)
c.1337T= (p.Val446=)
c.1460T= (p.Val487=)
c.734T= (p.Val245=)
c.1340T= (p.Val447=)
n.2423+2754A=
n.1699T=
10g.18539316C>ACA5430100CACNB2,NSUN6c.1431C>A (p.Val477=)
c.1296C>A (p.Val432=)
c.1419C>A (p.Val473=)
c.1491C>A (p.Val497=)
c.1575C>A (p.Val525=)
c.1413C>A (p.Val471=)
c.1200C>A (p.Val400=)
c.1377C>A (p.Val459=)
c.*716C>A (n.*716C>A)
c.1317C>A (p.Val439=)
c.*849C>A (n.*849C>A)
c.1132C>A (n.1132C>A)
c.*814C>A (n.*814C>A)
c.1395C>A (p.Val465=)
c.*675C>A (n.*675C>A)
c.1503C>A (p.Val501=)
c.825C>A (p.Val275=)
c.1410C>A (p.Val470=)
c.1279C>A (n.1279C>A)
c.87C>A (p.Val29=)
c.660C>A (p.Val220=)
c.1338C>A (p.Val446=)
c.1461C>A (p.Val487=)
c.735C>A (p.Val245=)
c.1341C>A (p.Val447=)
n.2423+2753G>T
n.1700C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539316C=CA1894172997CACNB2,NSUN6c.1431C= (p.Val477=)
c.1296C= (p.Val432=)
c.1419C= (p.Val473=)
c.1491C= (p.Val497=)
c.1575C= (p.Val525=)
c.1413C= (p.Val471=)
c.1200C= (p.Val400=)
c.1377C= (p.Val459=)
c.*716C= (n.*716C=)
c.1317C= (p.Val439=)
c.*849C= (n.*849C=)
c.1132C= (n.1132C=)
c.*814C= (n.*814C=)
c.1395C= (p.Val465=)
c.*675C= (n.*675C=)
c.1503C= (p.Val501=)
c.825C= (p.Val275=)
c.1410C= (p.Val470=)
c.1279C= (n.1279C=)
c.87C= (p.Val29=)
c.660C= (p.Val220=)
c.1338C= (p.Val446=)
c.1461C= (p.Val487=)
c.735C= (p.Val245=)
c.1341C= (p.Val447=)
n.2423+2753G=
n.1700C=
10g.18539316C>GCA468627441CACNB2,NSUN6c.1431C>G (p.Val477=)
c.1296C>G (p.Val432=)
c.1419C>G (p.Val473=)
c.1491C>G (p.Val497=)
c.1575C>G (p.Val525=)
c.1413C>G (p.Val471=)
c.1200C>G (p.Val400=)
c.1377C>G (p.Val459=)
c.*716C>G (n.*716C>G)
c.1317C>G (p.Val439=)
c.*849C>G (n.*849C>G)
c.1132C>G (n.1132C>G)
c.*814C>G (n.*814C>G)
c.1395C>G (p.Val465=)
c.*675C>G (n.*675C>G)
c.1503C>G (p.Val501=)
c.825C>G (p.Val275=)
c.1410C>G (p.Val470=)
c.1279C>G (n.1279C>G)
c.87C>G (p.Val29=)
c.660C>G (p.Val220=)
c.1338C>G (p.Val446=)
c.1461C>G (p.Val487=)
c.735C>G (p.Val245=)
c.1341C>G (p.Val447=)
n.2423+2753G>C
n.1700C>G
 ClinVar dbSNP gnomAD v4
10g.18539316C>TCA468627443CACNB2,NSUN6c.1431C>T (p.Val477=)
c.1296C>T (p.Val432=)
c.1419C>T (p.Val473=)
c.1491C>T (p.Val497=)
c.1575C>T (p.Val525=)
c.1413C>T (p.Val471=)
c.1200C>T (p.Val400=)
c.1377C>T (p.Val459=)
c.*716C>T (n.*716C>T)
c.1317C>T (p.Val439=)
c.*849C>T (n.*849C>T)
c.1132C>T (n.1132C>T)
c.*814C>T (n.*814C>T)
c.1395C>T (p.Val465=)
c.*675C>T (n.*675C>T)
c.1503C>T (p.Val501=)
c.825C>T (p.Val275=)
c.1410C>T (p.Val470=)
c.1279C>T (n.1279C>T)
c.87C>T (p.Val29=)
c.660C>T (p.Val220=)
c.1338C>T (p.Val446=)
c.1461C>T (p.Val487=)
c.735C>T (p.Val245=)
c.1341C>T (p.Val447=)
n.2423+2753G>A
n.1700C>T
10g.18539316_18539326dupCA2608435591CACNB2,NSUN6c.1431_1441dup (p.Gln481ProfsTer?)
c.1296_1306dup (p.Gln436ProfsTer?)
c.1419_1429dup (p.Gln477ProfsTer?)
c.1491_1501dup (p.Gln501ProfsTer?)
c.1575_1585dup (p.Gln529ProfsTer?)
c.1413_1423dup (p.Gln475ProfsTer?)
c.1200_1210dup (p.Gln404ProfsTer?)
c.1377_1387dup (p.Gln463ProfsTer?)
c.*716_*726dup (n.*716_*726dup)
c.1317_1327dup (p.Gln443ProfsTer?)
c.*849_*859dup (n.*849_*859dup)
c.1132_1142dup (n.1132_1142dup)
c.*814_*824dup (n.*814_*824dup)
c.1395_1405dup (p.Gln469ProfsTer?)
c.*675_*685dup (n.*675_*685dup)
c.1503_1513dup (p.Gln505ProfsTer?)
c.825_835dup (p.Gln279ProfsTer?)
c.1410_1420dup (p.Gln474ProfsTer?)
c.1279_1289dup (n.1279_1289dup)
c.87_97dup (p.Gln33ProfsTer?)
c.660_670dup (p.Gln224ProfsTer?)
c.1338_1348dup (p.Gln450ProfsTer?)
c.1461_1471dup (p.Gln491ProfsTer?)
c.735_745dup (p.Gln249ProfsTer?)
c.1341_1351dup (p.Gln451ProfsTer?)
n.2423+2743_2423+2753dup
n.1700_1710dup
 gnomAD v4
10g.18539317A>CCA376071361CACNB2,NSUN6c.1432A>C (p.Lys478Gln)
c.1297A>C (p.Lys433Gln)
c.1420A>C (p.Lys474Gln)
c.1492A>C (p.Lys498Gln)
c.1576A>C (p.Lys526Gln)
c.1414A>C (p.Lys472Gln)
c.1201A>C (p.Lys401Gln)
c.1378A>C (p.Lys460Gln)
c.*717A>C (n.*717A>C)
c.1318A>C (p.Lys440Gln)
c.*850A>C (n.*850A>C)
c.1133A>C (n.1133A>C)
c.*815A>C (n.*815A>C)
c.1396A>C (p.Lys466Gln)
c.*676A>C (n.*676A>C)
c.1504A>C (p.Lys502Gln)
c.826A>C (p.Lys276Gln)
c.1411A>C (p.Lys471Gln)
c.1280A>C (n.1280A>C)
c.88A>C (p.Lys30Gln)
c.661A>C (p.Lys221Gln)
c.1339A>C (p.Lys447Gln)
c.1462A>C (p.Lys488Gln)
c.736A>C (p.Lys246Gln)
c.1342A>C (p.Lys448Gln)
n.2423+2752T>G
n.1701A>C
10g.18539317A>GCA376071363CACNB2,NSUN6c.1432A>G (p.Lys478Glu)
c.1297A>G (p.Lys433Glu)
c.1420A>G (p.Lys474Glu)
c.1492A>G (p.Lys498Glu)
c.1576A>G (p.Lys526Glu)
c.1414A>G (p.Lys472Glu)
c.1201A>G (p.Lys401Glu)
c.1378A>G (p.Lys460Glu)
c.*717A>G (n.*717A>G)
c.1318A>G (p.Lys440Glu)
c.*850A>G (n.*850A>G)
c.1133A>G (n.1133A>G)
c.*815A>G (n.*815A>G)
c.1396A>G (p.Lys466Glu)
c.*676A>G (n.*676A>G)
c.1504A>G (p.Lys502Glu)
c.826A>G (p.Lys276Glu)
c.1411A>G (p.Lys471Glu)
c.1280A>G (n.1280A>G)
c.88A>G (p.Lys30Glu)
c.661A>G (p.Lys221Glu)
c.1339A>G (p.Lys447Glu)
c.1462A>G (p.Lys488Glu)
c.736A>G (p.Lys246Glu)
c.1342A>G (p.Lys448Glu)
n.2423+2752T>C
n.1701A>G
10g.18539317A>TCA376071364CACNB2,NSUN6c.1432A>T (p.Lys478Ter)
c.1297A>T (p.Lys433Ter)
c.1420A>T (p.Lys474Ter)
c.1492A>T (p.Lys498Ter)
c.1576A>T (p.Lys526Ter)
c.1414A>T (p.Lys472Ter)
c.1201A>T (p.Lys401Ter)
c.1378A>T (p.Lys460Ter)
c.*717A>T (n.*717A>T)
c.1318A>T (p.Lys440Ter)
c.*850A>T (n.*850A>T)
c.1133A>T (n.1133A>T)
c.*815A>T (n.*815A>T)
c.1396A>T (p.Lys466Ter)
c.*676A>T (n.*676A>T)
c.1504A>T (p.Lys502Ter)
c.826A>T (p.Lys276Ter)
c.1411A>T (p.Lys471Ter)
c.1280A>T (n.1280A>T)
c.88A>T (p.Lys30Ter)
c.661A>T (p.Lys221Ter)
c.1339A>T (p.Lys447Ter)
c.1462A>T (p.Lys488Ter)
c.736A>T (p.Lys246Ter)
c.1342A>T (p.Lys448Ter)
n.2423+2752T>A
n.1701A>T
10g.18539318A>CCA376071365CACNB2,NSUN6c.1433A>C (p.Lys478Thr)
c.1298A>C (p.Lys433Thr)
c.1421A>C (p.Lys474Thr)
c.1493A>C (p.Lys498Thr)
c.1577A>C (p.Lys526Thr)
c.1415A>C (p.Lys472Thr)
c.1202A>C (p.Lys401Thr)
c.1379A>C (p.Lys460Thr)
c.*718A>C (n.*718A>C)
c.1319A>C (p.Lys440Thr)
c.*851A>C (n.*851A>C)
c.1134A>C (n.1134A>C)
c.*816A>C (n.*816A>C)
c.1397A>C (p.Lys466Thr)
c.*677A>C (n.*677A>C)
c.1505A>C (p.Lys502Thr)
c.827A>C (p.Lys276Thr)
c.1412A>C (p.Lys471Thr)
c.1281A>C (n.1281A>C)
c.89A>C (p.Lys30Thr)
c.662A>C (p.Lys221Thr)
c.1340A>C (p.Lys447Thr)
c.1463A>C (p.Lys488Thr)
c.737A>C (p.Lys246Thr)
c.1343A>C (p.Lys448Thr)
n.2423+2751T>G
n.1702A>C
 gnomAD v4
10g.18539318A>GCA376071367CACNB2,NSUN6c.1433A>G (p.Lys478Arg)
c.1298A>G (p.Lys433Arg)
c.1421A>G (p.Lys474Arg)
c.1493A>G (p.Lys498Arg)
c.1577A>G (p.Lys526Arg)
c.1415A>G (p.Lys472Arg)
c.1202A>G (p.Lys401Arg)
c.1379A>G (p.Lys460Arg)
c.*718A>G (n.*718A>G)
c.1319A>G (p.Lys440Arg)
c.*851A>G (n.*851A>G)
c.1134A>G (n.1134A>G)
c.*816A>G (n.*816A>G)
c.1397A>G (p.Lys466Arg)
c.*677A>G (n.*677A>G)
c.1505A>G (p.Lys502Arg)
c.827A>G (p.Lys276Arg)
c.1412A>G (p.Lys471Arg)
c.1281A>G (n.1281A>G)
c.89A>G (p.Lys30Arg)
c.662A>G (p.Lys221Arg)
c.1340A>G (p.Lys447Arg)
c.1463A>G (p.Lys488Arg)
c.737A>G (p.Lys246Arg)
c.1343A>G (p.Lys448Arg)
n.2423+2751T>C
n.1702A>G
10g.18539318A>TCA376071368CACNB2,NSUN6c.1433A>T (p.Lys478Met)
c.1298A>T (p.Lys433Met)
c.1421A>T (p.Lys474Met)
c.1493A>T (p.Lys498Met)
c.1577A>T (p.Lys526Met)
c.1415A>T (p.Lys472Met)
c.1202A>T (p.Lys401Met)
c.1379A>T (p.Lys460Met)
c.*718A>T (n.*718A>T)
c.1319A>T (p.Lys440Met)
c.*851A>T (n.*851A>T)
c.1134A>T (n.1134A>T)
c.*816A>T (n.*816A>T)
c.1397A>T (p.Lys466Met)
c.*677A>T (n.*677A>T)
c.1505A>T (p.Lys502Met)
c.827A>T (p.Lys276Met)
c.1412A>T (p.Lys471Met)
c.1281A>T (n.1281A>T)
c.89A>T (p.Lys30Met)
c.662A>T (p.Lys221Met)
c.1340A>T (p.Lys447Met)
c.1463A>T (p.Lys488Met)
c.737A>T (p.Lys246Met)
c.1343A>T (p.Lys448Met)
n.2423+2751T>A
n.1702A>T
10g.18539319G>ACA468627458CACNB2,NSUN6c.1434G>A (p.Lys478=)
c.1299G>A (p.Lys433=)
c.1422G>A (p.Lys474=)
c.1494G>A (p.Lys498=)
c.1578G>A (p.Lys526=)
c.1416G>A (p.Lys472=)
c.1203G>A (p.Lys401=)
c.1380G>A (p.Lys460=)
c.*719G>A (n.*719G>A)
c.1320G>A (p.Lys440=)
c.*852G>A (n.*852G>A)
c.1135G>A (n.1135G>A)
c.*817G>A (n.*817G>A)
c.1398G>A (p.Lys466=)
c.*678G>A (n.*678G>A)
c.1506G>A (p.Lys502=)
c.828G>A (p.Lys276=)
c.1413G>A (p.Lys471=)
c.1282G>A (n.1282G>A)
c.90G>A (p.Lys30=)
c.663G>A (p.Lys221=)
c.1341G>A (p.Lys447=)
c.1464G>A (p.Lys488=)
c.738G>A (p.Lys246=)
c.1344G>A (p.Lys448=)
n.2423+2750C>T
n.1703G>A
10g.18539319G>CCA376071370CACNB2,NSUN6c.1434G>C (p.Lys478Asn)
c.1299G>C (p.Lys433Asn)
c.1422G>C (p.Lys474Asn)
c.1494G>C (p.Lys498Asn)
c.1578G>C (p.Lys526Asn)
c.1416G>C (p.Lys472Asn)
c.1203G>C (p.Lys401Asn)
c.1380G>C (p.Lys460Asn)
c.*719G>C (n.*719G>C)
c.1320G>C (p.Lys440Asn)
c.*852G>C (n.*852G>C)
c.1135G>C (n.1135G>C)
c.*817G>C (n.*817G>C)
c.1398G>C (p.Lys466Asn)
c.*678G>C (n.*678G>C)
c.1506G>C (p.Lys502Asn)
c.828G>C (p.Lys276Asn)
c.1413G>C (p.Lys471Asn)
c.1282G>C (n.1282G>C)
c.90G>C (p.Lys30Asn)
c.663G>C (p.Lys221Asn)
c.1341G>C (p.Lys447Asn)
c.1464G>C (p.Lys488Asn)
c.738G>C (p.Lys246Asn)
c.1344G>C (p.Lys448Asn)
n.2423+2750C>G
n.1703G>C
 dbSNP gnomAD v4
10g.18539319G=CA1894173003CACNB2,NSUN6c.1434G= (p.Lys478=)
c.1299G= (p.Lys433=)
c.1422G= (p.Lys474=)
c.1494G= (p.Lys498=)
c.1578G= (p.Lys526=)
c.1416G= (p.Lys472=)
c.1203G= (p.Lys401=)
c.1380G= (p.Lys460=)
c.*719G= (n.*719G=)
c.1320G= (p.Lys440=)
c.*852G= (n.*852G=)
c.1135G= (n.1135G=)
c.*817G= (n.*817G=)
c.1398G= (p.Lys466=)
c.*678G= (n.*678G=)
c.1506G= (p.Lys502=)
c.828G= (p.Lys276=)
c.1413G= (p.Lys471=)
c.1282G= (n.1282G=)
c.90G= (p.Lys30=)
c.663G= (p.Lys221=)
c.1341G= (p.Lys447=)
c.1464G= (p.Lys488=)
c.738G= (p.Lys246=)
c.1344G= (p.Lys448=)
n.2423+2750C=
n.1703G=
10g.18539319G>TCA376071371CACNB2,NSUN6c.1434G>T (p.Lys478Asn)
c.1299G>T (p.Lys433Asn)
c.1422G>T (p.Lys474Asn)
c.1494G>T (p.Lys498Asn)
c.1578G>T (p.Lys526Asn)
c.1416G>T (p.Lys472Asn)
c.1203G>T (p.Lys401Asn)
c.1380G>T (p.Lys460Asn)
c.*719G>T (n.*719G>T)
c.1320G>T (p.Lys440Asn)
c.*852G>T (n.*852G>T)
c.1135G>T (n.1135G>T)
c.*817G>T (n.*817G>T)
c.1398G>T (p.Lys466Asn)
c.*678G>T (n.*678G>T)
c.1506G>T (p.Lys502Asn)
c.828G>T (p.Lys276Asn)
c.1413G>T (p.Lys471Asn)
c.1282G>T (n.1282G>T)
c.90G>T (p.Lys30Asn)
c.663G>T (p.Lys221Asn)
c.1341G>T (p.Lys447Asn)
c.1464G>T (p.Lys488Asn)
c.738G>T (p.Lys246Asn)
c.1344G>T (p.Lys448Asn)
n.2423+2750C>A
n.1703G>T
10g.18539320A=CA1894173006CACNB2,NSUN6c.1435A= (p.Lys479=)
c.1300A= (p.Lys434=)
c.1423A= (p.Lys475=)
c.1495A= (p.Lys499=)
c.1579A= (p.Lys527=)
c.1417A= (p.Lys473=)
c.1204A= (p.Lys402=)
c.1381A= (p.Lys461=)
c.*720A= (n.*720A=)
c.1321A= (p.Lys441=)
c.*853A= (n.*853A=)
c.1136A= (n.1136A=)
c.*818A= (n.*818A=)
c.1399A= (p.Lys467=)
c.*679A= (n.*679A=)
c.1507A= (p.Lys503=)
c.829A= (p.Lys277=)
c.1414A= (p.Lys472=)
c.1283A= (n.1283A=)
c.91A= (p.Lys31=)
c.664A= (p.Lys222=)
c.1342A= (p.Lys448=)
c.1465A= (p.Lys489=)
c.739A= (p.Lys247=)
c.1345A= (p.Lys449=)
n.2423+2749T=
n.1704A=
10g.18539320A>CCA376071373CACNB2,NSUN6c.1435A>C (p.Lys479Gln)
c.1300A>C (p.Lys434Gln)
c.1423A>C (p.Lys475Gln)
c.1495A>C (p.Lys499Gln)
c.1579A>C (p.Lys527Gln)
c.1417A>C (p.Lys473Gln)
c.1204A>C (p.Lys402Gln)
c.1381A>C (p.Lys461Gln)
c.*720A>C (n.*720A>C)
c.1321A>C (p.Lys441Gln)
c.*853A>C (n.*853A>C)
c.1136A>C (n.1136A>C)
c.*818A>C (n.*818A>C)
c.1399A>C (p.Lys467Gln)
c.*679A>C (n.*679A>C)
c.1507A>C (p.Lys503Gln)
c.829A>C (p.Lys277Gln)
c.1414A>C (p.Lys472Gln)
c.1283A>C (n.1283A>C)
c.91A>C (p.Lys31Gln)
c.664A>C (p.Lys222Gln)
c.1342A>C (p.Lys448Gln)
c.1465A>C (p.Lys489Gln)
c.739A>C (p.Lys247Gln)
c.1345A>C (p.Lys449Gln)
n.2423+2749T>G
n.1704A>C
10g.18539320A>GCA376071374CACNB2,NSUN6c.1435A>G (p.Lys479Glu)
c.1300A>G (p.Lys434Glu)
c.1423A>G (p.Lys475Glu)
c.1495A>G (p.Lys499Glu)
c.1579A>G (p.Lys527Glu)
c.1417A>G (p.Lys473Glu)
c.1204A>G (p.Lys402Glu)
c.1381A>G (p.Lys461Glu)
c.*720A>G (n.*720A>G)
c.1321A>G (p.Lys441Glu)
c.*853A>G (n.*853A>G)
c.1136A>G (n.1136A>G)
c.*818A>G (n.*818A>G)
c.1399A>G (p.Lys467Glu)
c.*679A>G (n.*679A>G)
c.1507A>G (p.Lys503Glu)
c.829A>G (p.Lys277Glu)
c.1414A>G (p.Lys472Glu)
c.1283A>G (n.1283A>G)
c.91A>G (p.Lys31Glu)
c.664A>G (p.Lys222Glu)
c.1342A>G (p.Lys448Glu)
c.1465A>G (p.Lys489Glu)
c.739A>G (p.Lys247Glu)
c.1345A>G (p.Lys449Glu)
n.2423+2749T>C
n.1704A>G
10g.18539320A>TCA376071375CACNB2,NSUN6c.1435A>T (p.Lys479Ter)
c.1300A>T (p.Lys434Ter)
c.1423A>T (p.Lys475Ter)
c.1495A>T (p.Lys499Ter)
c.1579A>T (p.Lys527Ter)
c.1417A>T (p.Lys473Ter)
c.1204A>T (p.Lys402Ter)
c.1381A>T (p.Lys461Ter)
c.*720A>T (n.*720A>T)
c.1321A>T (p.Lys441Ter)
c.*853A>T (n.*853A>T)
c.1136A>T (n.1136A>T)
c.*818A>T (n.*818A>T)
c.1399A>T (p.Lys467Ter)
c.*679A>T (n.*679A>T)
c.1507A>T (p.Lys503Ter)
c.829A>T (p.Lys277Ter)
c.1414A>T (p.Lys472Ter)
c.1283A>T (n.1283A>T)
c.91A>T (p.Lys31Ter)
c.664A>T (p.Lys222Ter)
c.1342A>T (p.Lys448Ter)
c.1465A>T (p.Lys489Ter)
c.739A>T (p.Lys247Ter)
c.1345A>T (p.Lys449Ter)
n.2423+2749T>A
n.1704A>T
 dbSNP
10g.18539320_18539327delCA2574454514CACNB2,NSUN6c.1435_1442del (p.Lys479AlafsTer27)
c.1300_1307del (p.Lys434AlafsTer27)
c.1423_1430del (p.Lys475AlafsTer27)
c.1495_1502del (p.Lys499AlafsTer27)
c.1579_1586del (p.Lys527AlafsTer27)
c.1417_1424del (p.Lys473AlafsTer27)
c.1204_1211del (p.Lys402AlafsTer27)
c.1381_1388del (p.Lys461AlafsTer27)
c.*720_*727del (n.*720_*727del)
c.1321_1328del (p.Lys441AlafsTer27)
c.*853_*860del (n.*853_*860del)
c.1136_1143del (n.1136_1143del)
c.*818_*825del (n.*818_*825del)
c.1399_1406del (p.Lys467AlafsTer27)
c.*679_*686del (n.*679_*686del)
c.1507_1514del (p.Lys503AlafsTer27)
c.829_836del (p.Lys277AlafsTer27)
c.1414_1421del (p.Lys472AlafsTer27)
c.1283_1290del (n.1283_1290del)
c.91_98del (p.Lys31AlafsTer27)
c.664_671del (p.Lys222AlafsTer27)
c.1342_1349del (p.Lys448AlafsTer27)
c.1465_1472del (p.Lys489AlafsTer27)
c.739_746del (p.Lys247AlafsTer27)
c.1345_1352del (p.Lys449AlafsTer27)
n.2423+2742_2423+2749del
n.1704_1711del
 gnomAD v4
10g.18539321A=CA1894173018CACNB2,NSUN6c.1436A= (p.Lys479=)
c.1301A= (p.Lys434=)
c.1424A= (p.Lys475=)
c.1496A= (p.Lys499=)
c.1580A= (p.Lys527=)
c.1418A= (p.Lys473=)
c.1205A= (p.Lys402=)
c.1382A= (p.Lys461=)
c.*721A= (n.*721A=)
c.1322A= (p.Lys441=)
c.*854A= (n.*854A=)
c.1137A= (n.1137A=)
c.*819A= (n.*819A=)
c.1400A= (p.Lys467=)
c.*680A= (n.*680A=)
c.1508A= (p.Lys503=)
c.830A= (p.Lys277=)
c.1415A= (p.Lys472=)
c.1284A= (n.1284A=)
c.92A= (p.Lys31=)
c.665A= (p.Lys222=)
c.1343A= (p.Lys448=)
c.1466A= (p.Lys489=)
c.740A= (p.Lys247=)
c.1346A= (p.Lys449=)
n.2423+2748T=
n.1705A=
10g.18539321A>CCA5430101CACNB2,NSUN6c.1436A>C (p.Lys479Thr)
c.1301A>C (p.Lys434Thr)
c.1424A>C (p.Lys475Thr)
c.1496A>C (p.Lys499Thr)
c.1580A>C (p.Lys527Thr)
c.1418A>C (p.Lys473Thr)
c.1205A>C (p.Lys402Thr)
c.1382A>C (p.Lys461Thr)
c.*721A>C (n.*721A>C)
c.1322A>C (p.Lys441Thr)
c.*854A>C (n.*854A>C)
c.1137A>C (n.1137A>C)
c.*819A>C (n.*819A>C)
c.1400A>C (p.Lys467Thr)
c.*680A>C (n.*680A>C)
c.1508A>C (p.Lys503Thr)
c.830A>C (p.Lys277Thr)
c.1415A>C (p.Lys472Thr)
c.1284A>C (n.1284A>C)
c.92A>C (p.Lys31Thr)
c.665A>C (p.Lys222Thr)
c.1343A>C (p.Lys448Thr)
c.1466A>C (p.Lys489Thr)
c.740A>C (p.Lys247Thr)
c.1346A>C (p.Lys449Thr)
n.2423+2748T>G
n.1705A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
10g.18539321A>GCA376071379CACNB2,NSUN6c.1436A>G (p.Lys479Arg)
c.1301A>G (p.Lys434Arg)
c.1424A>G (p.Lys475Arg)
c.1496A>G (p.Lys499Arg)
c.1580A>G (p.Lys527Arg)
c.1418A>G (p.Lys473Arg)
c.1205A>G (p.Lys402Arg)
c.1382A>G (p.Lys461Arg)
c.*721A>G (n.*721A>G)
c.1322A>G (p.Lys441Arg)
c.*854A>G (n.*854A>G)
c.1137A>G (n.1137A>G)
c.*819A>G (n.*819A>G)
c.1400A>G (p.Lys467Arg)
c.*680A>G (n.*680A>G)
c.1508A>G (p.Lys503Arg)
c.830A>G (p.Lys277Arg)
c.1415A>G (p.Lys472Arg)
c.1284A>G (n.1284A>G)
c.92A>G (p.Lys31Arg)
c.665A>G (p.Lys222Arg)
c.1343A>G (p.Lys448Arg)
c.1466A>G (p.Lys489Arg)
c.740A>G (p.Lys247Arg)
c.1346A>G (p.Lys449Arg)
n.2423+2748T>C
n.1705A>G
10g.18539321A>TCA376071377CACNB2,NSUN6c.1436A>T (p.Lys479Ile)
c.1301A>T (p.Lys434Ile)
c.1424A>T (p.Lys475Ile)
c.1496A>T (p.Lys499Ile)
c.1580A>T (p.Lys527Ile)
c.1418A>T (p.Lys473Ile)
c.1205A>T (p.Lys402Ile)
c.1382A>T (p.Lys461Ile)
c.*721A>T (n.*721A>T)
c.1322A>T (p.Lys441Ile)
c.*854A>T (n.*854A>T)
c.1137A>T (n.1137A>T)
c.*819A>T (n.*819A>T)
c.1400A>T (p.Lys467Ile)
c.*680A>T (n.*680A>T)
c.1508A>T (p.Lys503Ile)
c.830A>T (p.Lys277Ile)
c.1415A>T (p.Lys472Ile)
c.1284A>T (n.1284A>T)
c.92A>T (p.Lys31Ile)
c.665A>T (p.Lys222Ile)
c.1343A>T (p.Lys448Ile)
c.1466A>T (p.Lys489Ile)
c.740A>T (p.Lys247Ile)
c.1346A>T (p.Lys449Ile)
n.2423+2748T>A
n.1705A>T
10g.18539322A>CCA376071381CACNB2,NSUN6c.1437A>C (p.Lys479Asn)
c.1302A>C (p.Lys434Asn)
c.1425A>C (p.Lys475Asn)
c.1497A>C (p.Lys499Asn)
c.1581A>C (p.Lys527Asn)
c.1419A>C (p.Lys473Asn)
c.1206A>C (p.Lys402Asn)
c.1383A>C (p.Lys461Asn)
c.*722A>C (n.*722A>C)
c.1323A>C (p.Lys441Asn)
c.*855A>C (n.*855A>C)
c.1138A>C (n.1138A>C)
c.*820A>C (n.*820A>C)
c.1401A>C (p.Lys467Asn)
c.*681A>C (n.*681A>C)
c.1509A>C (p.Lys503Asn)
c.831A>C (p.Lys277Asn)
c.1416A>C (p.Lys472Asn)
c.1285A>C (n.1285A>C)
c.93A>C (p.Lys31Asn)
c.666A>C (p.Lys222Asn)
c.1344A>C (p.Lys448Asn)
c.1467A>C (p.Lys489Asn)
c.741A>C (p.Lys247Asn)
c.1347A>C (p.Lys449Asn)
n.2423+2747T>G
n.1706A>C
10g.18539322A>GCA468627476CACNB2,NSUN6c.1437A>G (p.Lys479=)
c.1302A>G (p.Lys434=)
c.1425A>G (p.Lys475=)
c.1497A>G (p.Lys499=)
c.1581A>G (p.Lys527=)
c.1419A>G (p.Lys473=)
c.1206A>G (p.Lys402=)
c.1383A>G (p.Lys461=)
c.*722A>G (n.*722A>G)
c.1323A>G (p.Lys441=)
c.*855A>G (n.*855A>G)
c.1138A>G (n.1138A>G)
c.*820A>G (n.*820A>G)
c.1401A>G (p.Lys467=)
c.*681A>G (n.*681A>G)
c.1509A>G (p.Lys503=)
c.831A>G (p.Lys277=)
c.1416A>G (p.Lys472=)
c.1285A>G (n.1285A>G)
c.93A>G (p.Lys31=)
c.666A>G (p.Lys222=)
c.1344A>G (p.Lys448=)
c.1467A>G (p.Lys489=)
c.741A>G (p.Lys247=)
c.1347A>G (p.Lys449=)
n.2423+2747T>C
n.1706A>G
10g.18539322A>TCA376071383CACNB2,NSUN6c.1437A>T (p.Lys479Asn)
c.1302A>T (p.Lys434Asn)
c.1425A>T (p.Lys475Asn)
c.1497A>T (p.Lys499Asn)
c.1581A>T (p.Lys527Asn)
c.1419A>T (p.Lys473Asn)
c.1206A>T (p.Lys402Asn)
c.1383A>T (p.Lys461Asn)
c.*722A>T (n.*722A>T)
c.1323A>T (p.Lys441Asn)
c.*855A>T (n.*855A>T)
c.1138A>T (n.1138A>T)
c.*820A>T (n.*820A>T)
c.1401A>T (p.Lys467Asn)
c.*681A>T (n.*681A>T)
c.1509A>T (p.Lys503Asn)
c.831A>T (p.Lys277Asn)
c.1416A>T (p.Lys472Asn)
c.1285A>T (n.1285A>T)
c.93A>T (p.Lys31Asn)
c.666A>T (p.Lys222Asn)
c.1344A>T (p.Lys448Asn)
c.1467A>T (p.Lys489Asn)
c.741A>T (p.Lys247Asn)
c.1347A>T (p.Lys449Asn)
n.2423+2747T>A
n.1706A>T
10g.18539323T>ACA376071385CACNB2,NSUN6c.1438T>A (p.Ser480Thr)
c.1303T>A (p.Ser435Thr)
c.1426T>A (p.Ser476Thr)
c.1498T>A (p.Ser500Thr)
c.1582T>A (p.Ser528Thr)
c.1420T>A (p.Ser474Thr)
c.1207T>A (p.Ser403Thr)
c.1384T>A (p.Ser462Thr)
c.*723T>A (n.*723T>A)
c.1324T>A (p.Ser442Thr)
c.*856T>A (n.*856T>A)
c.1139T>A (n.1139T>A)
c.*821T>A (n.*821T>A)
c.1402T>A (p.Ser468Thr)
c.*682T>A (n.*682T>A)
c.1510T>A (p.Ser504Thr)
c.832T>A (p.Ser278Thr)
c.1417T>A (p.Ser473Thr)
c.1286T>A (n.1286T>A)
c.94T>A (p.Ser32Thr)
c.667T>A (p.Ser223Thr)
c.1345T>A (p.Ser449Thr)
c.1468T>A (p.Ser490Thr)
c.742T>A (p.Ser248Thr)
c.1348T>A (p.Ser450Thr)
n.2423+2746A>T
n.1707T>A
10g.18539323T>CCA376071386CACNB2,NSUN6c.1438T>C (p.Ser480Pro)
c.1303T>C (p.Ser435Pro)
c.1426T>C (p.Ser476Pro)
c.1498T>C (p.Ser500Pro)
c.1582T>C (p.Ser528Pro)
c.1420T>C (p.Ser474Pro)
c.1207T>C (p.Ser403Pro)
c.1384T>C (p.Ser462Pro)
c.*723T>C (n.*723T>C)
c.1324T>C (p.Ser442Pro)
c.*856T>C (n.*856T>C)
c.1139T>C (n.1139T>C)
c.*821T>C (n.*821T>C)
c.1402T>C (p.Ser468Pro)
c.*682T>C (n.*682T>C)
c.1510T>C (p.Ser504Pro)
c.832T>C (p.Ser278Pro)
c.1417T>C (p.Ser473Pro)
c.1286T>C (n.1286T>C)
c.94T>C (p.Ser32Pro)
c.667T>C (p.Ser223Pro)
c.1345T>C (p.Ser449Pro)
c.1468T>C (p.Ser490Pro)
c.742T>C (p.Ser248Pro)
c.1348T>C (p.Ser450Pro)
n.2423+2746A>G
n.1707T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.18539323T>GCA5430102CACNB2,NSUN6c.1438T>G (p.Ser480Ala)
c.1303T>G (p.Ser435Ala)
c.1426T>G (p.Ser476Ala)
c.1498T>G (p.Ser500Ala)
c.1582T>G (p.Ser528Ala)
c.1420T>G (p.Ser474Ala)
c.1207T>G (p.Ser403Ala)
c.1384T>G (p.Ser462Ala)
c.*723T>G (n.*723T>G)
c.1324T>G (p.Ser442Ala)
c.*856T>G (n.*856T>G)
c.1139T>G (n.1139T>G)
c.*821T>G (n.*821T>G)
c.1402T>G (p.Ser468Ala)
c.*682T>G (n.*682T>G)
c.1510T>G (p.Ser504Ala)
c.832T>G (p.Ser278Ala)
c.1417T>G (p.Ser473Ala)
c.1286T>G (n.1286T>G)
c.94T>G (p.Ser32Ala)
c.667T>G (p.Ser223Ala)
c.1345T>G (p.Ser449Ala)
c.1468T>G (p.Ser490Ala)
c.742T>G (p.Ser248Ala)
c.1348T>G (p.Ser450Ala)
n.2423+2746A>C
n.1707T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539323T=CA1894173029CACNB2,NSUN6c.1438T= (p.Ser480=)
c.1303T= (p.Ser435=)
c.1426T= (p.Ser476=)
c.1498T= (p.Ser500=)
c.1582T= (p.Ser528=)
c.1420T= (p.Ser474=)
c.1207T= (p.Ser403=)
c.1384T= (p.Ser462=)
c.*723T= (n.*723T=)
c.1324T= (p.Ser442=)
c.*856T= (n.*856T=)
c.1139T= (n.1139T=)
c.*821T= (n.*821T=)
c.1402T= (p.Ser468=)
c.*682T= (n.*682T=)
c.1510T= (p.Ser504=)
c.832T= (p.Ser278=)
c.1417T= (p.Ser473=)
c.1286T= (n.1286T=)
c.94T= (p.Ser32=)
c.667T= (p.Ser223=)
c.1345T= (p.Ser449=)
c.1468T= (p.Ser490=)
c.742T= (p.Ser248=)
c.1348T= (p.Ser450=)
n.2423+2746A=
n.1707T=
10g.18539324C>ACA376071389CACNB2,NSUN6c.1439C>A (p.Ser480Tyr)
c.1304C>A (p.Ser435Tyr)
c.1427C>A (p.Ser476Tyr)
c.1499C>A (p.Ser500Tyr)
c.1583C>A (p.Ser528Tyr)
c.1421C>A (p.Ser474Tyr)
c.1208C>A (p.Ser403Tyr)
c.1385C>A (p.Ser462Tyr)
c.*724C>A (n.*724C>A)
c.1325C>A (p.Ser442Tyr)
c.*857C>A (n.*857C>A)
c.1140C>A (n.1140C>A)
c.*822C>A (n.*822C>A)
c.1403C>A (p.Ser468Tyr)
c.*683C>A (n.*683C>A)
c.1511C>A (p.Ser504Tyr)
c.833C>A (p.Ser278Tyr)
c.1418C>A (p.Ser473Tyr)
c.1287C>A (n.1287C>A)
c.95C>A (p.Ser32Tyr)
c.668C>A (p.Ser223Tyr)
c.1346C>A (p.Ser449Tyr)
c.1469C>A (p.Ser490Tyr)
c.743C>A (p.Ser248Tyr)
c.1349C>A (p.Ser450Tyr)
n.2423+2745G>T
n.1708C>A
10g.18539324C>GCA376071390CACNB2,NSUN6c.1439C>G (p.Ser480Cys)
c.1304C>G (p.Ser435Cys)
c.1427C>G (p.Ser476Cys)
c.1499C>G (p.Ser500Cys)
c.1583C>G (p.Ser528Cys)
c.1421C>G (p.Ser474Cys)
c.1208C>G (p.Ser403Cys)
c.1385C>G (p.Ser462Cys)
c.*724C>G (n.*724C>G)
c.1325C>G (p.Ser442Cys)
c.*857C>G (n.*857C>G)
c.1140C>G (n.1140C>G)
c.*822C>G (n.*822C>G)
c.1403C>G (p.Ser468Cys)
c.*683C>G (n.*683C>G)
c.1511C>G (p.Ser504Cys)
c.833C>G (p.Ser278Cys)
c.1418C>G (p.Ser473Cys)
c.1287C>G (n.1287C>G)
c.95C>G (p.Ser32Cys)
c.668C>G (p.Ser223Cys)
c.1346C>G (p.Ser449Cys)
c.1469C>G (p.Ser490Cys)
c.743C>G (p.Ser248Cys)
c.1349C>G (p.Ser450Cys)
n.2423+2745G>C
n.1708C>G
10g.18539324C>TCA376071392CACNB2,NSUN6c.1439C>T (p.Ser480Phe)
c.1304C>T (p.Ser435Phe)
c.1427C>T (p.Ser476Phe)
c.1499C>T (p.Ser500Phe)
c.1583C>T (p.Ser528Phe)
c.1421C>T (p.Ser474Phe)
c.1208C>T (p.Ser403Phe)
c.1385C>T (p.Ser462Phe)
c.*724C>T (n.*724C>T)
c.1325C>T (p.Ser442Phe)
c.*857C>T (n.*857C>T)
c.1140C>T (n.1140C>T)
c.*822C>T (n.*822C>T)
c.1403C>T (p.Ser468Phe)
c.*683C>T (n.*683C>T)
c.1511C>T (p.Ser504Phe)
c.833C>T (p.Ser278Phe)
c.1418C>T (p.Ser473Phe)
c.1287C>T (n.1287C>T)
c.95C>T (p.Ser32Phe)
c.668C>T (p.Ser223Phe)
c.1346C>T (p.Ser449Phe)
c.1469C>T (p.Ser490Phe)
c.743C>T (p.Ser248Phe)
c.1349C>T (p.Ser450Phe)
n.2423+2745G>A
n.1708C>T
10g.18539325C>ACA468627497CACNB2,NSUN6c.1440C>A (p.Ser480=)
c.1305C>A (p.Ser435=)
c.1428C>A (p.Ser476=)
c.1500C>A (p.Ser500=)
c.1584C>A (p.Ser528=)
c.1422C>A (p.Ser474=)
c.1209C>A (p.Ser403=)
c.1386C>A (p.Ser462=)
c.*725C>A (n.*725C>A)
c.1326C>A (p.Ser442=)
c.*858C>A (n.*858C>A)
c.1141C>A (n.1141C>A)
c.*823C>A (n.*823C>A)
c.1404C>A (p.Ser468=)
c.*684C>A (n.*684C>A)
c.1512C>A (p.Ser504=)
c.834C>A (p.Ser278=)
c.1419C>A (p.Ser473=)
c.1288C>A (n.1288C>A)
c.96C>A (p.Ser32=)
c.669C>A (p.Ser223=)
c.1347C>A (p.Ser449=)
c.1470C>A (p.Ser490=)
c.744C>A (p.Ser248=)
c.1350C>A (p.Ser450=)
n.2423+2744G>T
n.1709C>A
 dbSNP
10g.18539325C=CA1894173035CACNB2,NSUN6c.1440C= (p.Ser480=)
c.1305C= (p.Ser435=)
c.1428C= (p.Ser476=)
c.1500C= (p.Ser500=)
c.1584C= (p.Ser528=)
c.1422C= (p.Ser474=)
c.1209C= (p.Ser403=)
c.1386C= (p.Ser462=)
c.*725C= (n.*725C=)
c.1326C= (p.Ser442=)
c.*858C= (n.*858C=)
c.1141C= (n.1141C=)
c.*823C= (n.*823C=)
c.1404C= (p.Ser468=)
c.*684C= (n.*684C=)
c.1512C= (p.Ser504=)
c.834C= (p.Ser278=)
c.1419C= (p.Ser473=)
c.1288C= (n.1288C=)
c.96C= (p.Ser32=)
c.669C= (p.Ser223=)
c.1347C= (p.Ser449=)
c.1470C= (p.Ser490=)
c.744C= (p.Ser248=)
c.1350C= (p.Ser450=)
n.2423+2744G=
n.1709C=
10g.18539325C>GCA5430103CACNB2,NSUN6c.1440C>G (p.Ser480=)
c.1305C>G (p.Ser435=)
c.1428C>G (p.Ser476=)
c.1500C>G (p.Ser500=)
c.1584C>G (p.Ser528=)
c.1422C>G (p.Ser474=)
c.1209C>G (p.Ser403=)
c.1386C>G (p.Ser462=)
c.*725C>G (n.*725C>G)
c.1326C>G (p.Ser442=)
c.*858C>G (n.*858C>G)
c.1141C>G (n.1141C>G)
c.*823C>G (n.*823C>G)
c.1404C>G (p.Ser468=)
c.*684C>G (n.*684C>G)
c.1512C>G (p.Ser504=)
c.834C>G (p.Ser278=)
c.1419C>G (p.Ser473=)
c.1288C>G (n.1288C>G)
c.96C>G (p.Ser32=)
c.669C>G (p.Ser223=)
c.1347C>G (p.Ser449=)
c.1470C>G (p.Ser490=)
c.744C>G (p.Ser248=)
c.1350C>G (p.Ser450=)
n.2423+2744G>C
n.1709C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539325C>TCA468627504CACNB2,NSUN6c.1440C>T (p.Ser480=)
c.1305C>T (p.Ser435=)
c.1428C>T (p.Ser476=)
c.1500C>T (p.Ser500=)
c.1584C>T (p.Ser528=)
c.1422C>T (p.Ser474=)
c.1209C>T (p.Ser403=)
c.1386C>T (p.Ser462=)
c.*725C>T (n.*725C>T)
c.1326C>T (p.Ser442=)
c.*858C>T (n.*858C>T)
c.1141C>T (n.1141C>T)
c.*823C>T (n.*823C>T)
c.1404C>T (p.Ser468=)
c.*684C>T (n.*684C>T)
c.1512C>T (p.Ser504=)
c.834C>T (p.Ser278=)
c.1419C>T (p.Ser473=)
c.1288C>T (n.1288C>T)
c.96C>T (p.Ser32=)
c.669C>T (p.Ser223=)
c.1347C>T (p.Ser449=)
c.1470C>T (p.Ser490=)
c.744C>T (p.Ser248=)
c.1350C>T (p.Ser450=)
n.2423+2744G>A
n.1709C>T
10g.18539326C>ACA376071395CACNB2,NSUN6c.1441C>A (p.Gln481Lys)
c.1306C>A (p.Gln436Lys)
c.1429C>A (p.Gln477Lys)
c.1501C>A (p.Gln501Lys)
c.1585C>A (p.Gln529Lys)
c.1423C>A (p.Gln475Lys)
c.1210C>A (p.Gln404Lys)
c.1387C>A (p.Gln463Lys)
c.*726C>A (n.*726C>A)
c.1327C>A (p.Gln443Lys)
c.*859C>A (n.*859C>A)
c.1142C>A (n.1142C>A)
c.*824C>A (n.*824C>A)
c.1405C>A (p.Gln469Lys)
c.*685C>A (n.*685C>A)
c.1513C>A (p.Gln505Lys)
c.835C>A (p.Gln279Lys)
c.1420C>A (p.Gln474Lys)
c.1289C>A (n.1289C>A)
c.97C>A (p.Gln33Lys)
c.670C>A (p.Gln224Lys)
c.1348C>A (p.Gln450Lys)
c.1471C>A (p.Gln491Lys)
c.745C>A (p.Gln249Lys)
c.1351C>A (p.Gln451Lys)
n.2423+2743G>T
n.1710C>A
 gnomAD v4
10g.18539326C>GCA376071396CACNB2,NSUN6c.1441C>G (p.Gln481Glu)
c.1306C>G (p.Gln436Glu)
c.1429C>G (p.Gln477Glu)
c.1501C>G (p.Gln501Glu)
c.1585C>G (p.Gln529Glu)
c.1423C>G (p.Gln475Glu)
c.1210C>G (p.Gln404Glu)
c.1387C>G (p.Gln463Glu)
c.*726C>G (n.*726C>G)
c.1327C>G (p.Gln443Glu)
c.*859C>G (n.*859C>G)
c.1142C>G (n.1142C>G)
c.*824C>G (n.*824C>G)
c.1405C>G (p.Gln469Glu)
c.*685C>G (n.*685C>G)
c.1513C>G (p.Gln505Glu)
c.835C>G (p.Gln279Glu)
c.1420C>G (p.Gln474Glu)
c.1289C>G (n.1289C>G)
c.97C>G (p.Gln33Glu)
c.670C>G (p.Gln224Glu)
c.1348C>G (p.Gln450Glu)
c.1471C>G (p.Gln491Glu)
c.745C>G (p.Gln249Glu)
c.1351C>G (p.Gln451Glu)
n.2423+2743G>C
n.1710C>G
 ClinVar
10g.18539326C>TCA376071398CACNB2,NSUN6c.1441C>T (p.Gln481Ter)
c.1306C>T (p.Gln436Ter)
c.1429C>T (p.Gln477Ter)
c.1501C>T (p.Gln501Ter)
c.1585C>T (p.Gln529Ter)
c.1423C>T (p.Gln475Ter)
c.1210C>T (p.Gln404Ter)
c.1387C>T (p.Gln463Ter)
c.*726C>T (n.*726C>T)
c.1327C>T (p.Gln443Ter)
c.*859C>T (n.*859C>T)
c.1142C>T (n.1142C>T)
c.*824C>T (n.*824C>T)
c.1405C>T (p.Gln469Ter)
c.*685C>T (n.*685C>T)
c.1513C>T (p.Gln505Ter)
c.835C>T (p.Gln279Ter)
c.1420C>T (p.Gln474Ter)
c.1289C>T (n.1289C>T)
c.97C>T (p.Gln33Ter)
c.670C>T (p.Gln224Ter)
c.1348C>T (p.Gln450Ter)
c.1471C>T (p.Gln491Ter)
c.745C>T (p.Gln249Ter)
c.1351C>T (p.Gln451Ter)
n.2423+2743G>A
n.1710C>T
10g.18539327A>CCA376071403CACNB2,NSUN6c.1442A>C (p.Gln481Pro)
c.1307A>C (p.Gln436Pro)
c.1430A>C (p.Gln477Pro)
c.1502A>C (p.Gln501Pro)
c.1586A>C (p.Gln529Pro)
c.1424A>C (p.Gln475Pro)
c.1211A>C (p.Gln404Pro)
c.1388A>C (p.Gln463Pro)
c.*727A>C (n.*727A>C)
c.1328A>C (p.Gln443Pro)
c.*860A>C (n.*860A>C)
c.1143A>C (n.1143A>C)
c.*825A>C (n.*825A>C)
c.1406A>C (p.Gln469Pro)
c.*686A>C (n.*686A>C)
c.1514A>C (p.Gln505Pro)
c.836A>C (p.Gln279Pro)
c.1421A>C (p.Gln474Pro)
c.1290A>C (n.1290A>C)
c.98A>C (p.Gln33Pro)
c.671A>C (p.Gln224Pro)
c.1349A>C (p.Gln450Pro)
c.1472A>C (p.Gln491Pro)
c.746A>C (p.Gln249Pro)
c.1352A>C (p.Gln451Pro)
n.2423+2742T>G
n.1711A>C
 gnomAD v4
10g.18539327A>GCA376071401CACNB2,NSUN6c.1442A>G (p.Gln481Arg)
c.1307A>G (p.Gln436Arg)
c.1430A>G (p.Gln477Arg)
c.1502A>G (p.Gln501Arg)
c.1586A>G (p.Gln529Arg)
c.1424A>G (p.Gln475Arg)
c.1211A>G (p.Gln404Arg)
c.1388A>G (p.Gln463Arg)
c.*727A>G (n.*727A>G)
c.1328A>G (p.Gln443Arg)
c.*860A>G (n.*860A>G)
c.1143A>G (n.1143A>G)
c.*825A>G (n.*825A>G)
c.1406A>G (p.Gln469Arg)
c.*686A>G (n.*686A>G)
c.1514A>G (p.Gln505Arg)
c.836A>G (p.Gln279Arg)
c.1421A>G (p.Gln474Arg)
c.1290A>G (n.1290A>G)
c.98A>G (p.Gln33Arg)
c.671A>G (p.Gln224Arg)
c.1349A>G (p.Gln450Arg)
c.1472A>G (p.Gln491Arg)
c.746A>G (p.Gln249Arg)
c.1352A>G (p.Gln451Arg)
n.2423+2742T>C
n.1711A>G
10g.18539327A>TCA376071400CACNB2,NSUN6c.1442A>T (p.Gln481Leu)
c.1307A>T (p.Gln436Leu)
c.1430A>T (p.Gln477Leu)
c.1502A>T (p.Gln501Leu)
c.1586A>T (p.Gln529Leu)
c.1424A>T (p.Gln475Leu)
c.1211A>T (p.Gln404Leu)
c.1388A>T (p.Gln463Leu)
c.*727A>T (n.*727A>T)
c.1328A>T (p.Gln443Leu)
c.*860A>T (n.*860A>T)
c.1143A>T (n.1143A>T)
c.*825A>T (n.*825A>T)
c.1406A>T (p.Gln469Leu)
c.*686A>T (n.*686A>T)
c.1514A>T (p.Gln505Leu)
c.836A>T (p.Gln279Leu)
c.1421A>T (p.Gln474Leu)
c.1290A>T (n.1290A>T)
c.98A>T (p.Gln33Leu)
c.671A>T (p.Gln224Leu)
c.1349A>T (p.Gln450Leu)
c.1472A>T (p.Gln491Leu)
c.746A>T (p.Gln249Leu)
c.1352A>T (p.Gln451Leu)
n.2423+2742T>A
n.1711A>T
10g.18539328G>ACA468627532CACNB2,NSUN6c.1443G>A (p.Gln481=)
c.1308G>A (p.Gln436=)
c.1431G>A (p.Gln477=)
c.1503G>A (p.Gln501=)
c.1587G>A (p.Gln529=)
c.1425G>A (p.Gln475=)
c.1212G>A (p.Gln404=)
c.1389G>A (p.Gln463=)
c.*728G>A (n.*728G>A)
c.1329G>A (p.Gln443=)
c.*861G>A (n.*861G>A)
c.1144G>A (n.1144G>A)
c.*826G>A (n.*826G>A)
c.1407G>A (p.Gln469=)
c.*687G>A (n.*687G>A)
c.1515G>A (p.Gln505=)
c.837G>A (p.Gln279=)
c.1422G>A (p.Gln474=)
c.1291G>A (n.1291G>A)
c.99G>A (p.Gln33=)
c.672G>A (p.Gln224=)
c.1350G>A (p.Gln450=)
c.1473G>A (p.Gln491=)
c.747G>A (p.Gln249=)
c.1353G>A (p.Gln451=)
n.2423+2741C>T
n.1712G>A
10g.18539328G>CCA376071404CACNB2,NSUN6c.1443G>C (p.Gln481His)
c.1308G>C (p.Gln436His)
c.1431G>C (p.Gln477His)
c.1503G>C (p.Gln501His)
c.1587G>C (p.Gln529His)
c.1425G>C (p.Gln475His)
c.1212G>C (p.Gln404His)
c.1389G>C (p.Gln463His)
c.*728G>C (n.*728G>C)
c.1329G>C (p.Gln443His)
c.*861G>C (n.*861G>C)
c.1144G>C (n.1144G>C)
c.*826G>C (n.*826G>C)
c.1407G>C (p.Gln469His)
c.*687G>C (n.*687G>C)
c.1515G>C (p.Gln505His)
c.837G>C (p.Gln279His)
c.1422G>C (p.Gln474His)
c.1291G>C (n.1291G>C)
c.99G>C (p.Gln33His)
c.672G>C (p.Gln224His)
c.1350G>C (p.Gln450His)
c.1473G>C (p.Gln491His)
c.747G>C (p.Gln249His)
c.1353G>C (p.Gln451His)
n.2423+2741C>G
n.1712G>C
 gnomAD v4
10g.18539328G=CA1894173039CACNB2,NSUN6c.1443G= (p.Gln481=)
c.1308G= (p.Gln436=)
c.1431G= (p.Gln477=)
c.1503G= (p.Gln501=)
c.1587G= (p.Gln529=)
c.1425G= (p.Gln475=)
c.1212G= (p.Gln404=)
c.1389G= (p.Gln463=)
c.*728G= (n.*728G=)
c.1329G= (p.Gln443=)
c.*861G= (n.*861G=)
c.1144G= (n.1144G=)
c.*826G= (n.*826G=)
c.1407G= (p.Gln469=)
c.*687G= (n.*687G=)
c.1515G= (p.Gln505=)
c.837G= (p.Gln279=)
c.1422G= (p.Gln474=)
c.1291G= (n.1291G=)
c.99G= (p.Gln33=)
c.672G= (p.Gln224=)
c.1350G= (p.Gln450=)
c.1473G= (p.Gln491=)
c.747G= (p.Gln249=)
c.1353G= (p.Gln451=)
n.2423+2741C=
n.1712G=
10g.18539328G>TCA376071406CACNB2,NSUN6c.1443G>T (p.Gln481His)
c.1308G>T (p.Gln436His)
c.1431G>T (p.Gln477His)
c.1503G>T (p.Gln501His)
c.1587G>T (p.Gln529His)
c.1425G>T (p.Gln475His)
c.1212G>T (p.Gln404His)
c.1389G>T (p.Gln463His)
c.*728G>T (n.*728G>T)
c.1329G>T (p.Gln443His)
c.*861G>T (n.*861G>T)
c.1144G>T (n.1144G>T)
c.*826G>T (n.*826G>T)
c.1407G>T (p.Gln469His)
c.*687G>T (n.*687G>T)
c.1515G>T (p.Gln505His)
c.837G>T (p.Gln279His)
c.1422G>T (p.Gln474His)
c.1291G>T (n.1291G>T)
c.99G>T (p.Gln33His)
c.672G>T (p.Gln224His)
c.1350G>T (p.Gln450His)
c.1473G>T (p.Gln491His)
c.747G>T (p.Gln249His)
c.1353G>T (p.Gln451His)
n.2423+2741C>A
n.1712G>T
 dbSNP
10g.18539329C>ACA376071408CACNB2,NSUN6c.1444C>A (p.His482Asn)
c.1309C>A (p.His437Asn)
c.1432C>A (p.His478Asn)
c.1504C>A (p.His502Asn)
c.1588C>A (p.His530Asn)
c.1426C>A (p.His476Asn)
c.1213C>A (p.His405Asn)
c.1390C>A (p.His464Asn)
c.*729C>A (n.*729C>A)
c.1330C>A (p.His444Asn)
c.*862C>A (n.*862C>A)
c.1145C>A (n.1145C>A)
c.*827C>A (n.*827C>A)
c.1408C>A (p.His470Asn)
c.*688C>A (n.*688C>A)
c.1516C>A (p.His506Asn)
c.838C>A (p.His280Asn)
c.1423C>A (p.His475Asn)
c.1292C>A (n.1292C>A)
c.100C>A (p.His34Asn)
c.673C>A (p.His225Asn)
c.1351C>A (p.His451Asn)
c.1474C>A (p.His492Asn)
c.748C>A (p.His250Asn)
c.1354C>A (p.His452Asn)
n.2423+2740G>T
n.1713C>A
 gnomAD v4
10g.18539329C>GCA376071411CACNB2,NSUN6c.1444C>G (p.His482Asp)
c.1309C>G (p.His437Asp)
c.1432C>G (p.His478Asp)
c.1504C>G (p.His502Asp)
c.1588C>G (p.His530Asp)
c.1426C>G (p.His476Asp)
c.1213C>G (p.His405Asp)
c.1390C>G (p.His464Asp)
c.*729C>G (n.*729C>G)
c.1330C>G (p.His444Asp)
c.*862C>G (n.*862C>G)
c.1145C>G (n.1145C>G)
c.*827C>G (n.*827C>G)
c.1408C>G (p.His470Asp)
c.*688C>G (n.*688C>G)
c.1516C>G (p.His506Asp)
c.838C>G (p.His280Asp)
c.1423C>G (p.His475Asp)
c.1292C>G (n.1292C>G)
c.100C>G (p.His34Asp)
c.673C>G (p.His225Asp)
c.1351C>G (p.His451Asp)
c.1474C>G (p.His492Asp)
c.748C>G (p.His250Asp)
c.1354C>G (p.His452Asp)
n.2423+2740G>C
n.1713C>G
10g.18539329C>TCA376071410CACNB2,NSUN6c.1444C>T (p.His482Tyr)
c.1309C>T (p.His437Tyr)
c.1432C>T (p.His478Tyr)
c.1504C>T (p.His502Tyr)
c.1588C>T (p.His530Tyr)
c.1426C>T (p.His476Tyr)
c.1213C>T (p.His405Tyr)
c.1390C>T (p.His464Tyr)
c.*729C>T (n.*729C>T)
c.1330C>T (p.His444Tyr)
c.*862C>T (n.*862C>T)
c.1145C>T (n.1145C>T)
c.*827C>T (n.*827C>T)
c.1408C>T (p.His470Tyr)
c.*688C>T (n.*688C>T)
c.1516C>T (p.His506Tyr)
c.838C>T (p.His280Tyr)
c.1423C>T (p.His475Tyr)
c.1292C>T (n.1292C>T)
c.100C>T (p.His34Tyr)
c.673C>T (p.His225Tyr)
c.1351C>T (p.His451Tyr)
c.1474C>T (p.His492Tyr)
c.748C>T (p.His250Tyr)
c.1354C>T (p.His452Tyr)
n.2423+2740G>A
n.1713C>T
10g.18539330A=CA1894173044CACNB2,NSUN6c.1445A= (p.His482=)
c.1310A= (p.His437=)
c.1433A= (p.His478=)
c.1505A= (p.His502=)
c.1589A= (p.His530=)
c.1427A= (p.His476=)
c.1214A= (p.His405=)
c.1391A= (p.His464=)
c.*730A= (n.*730A=)
c.1331A= (p.His444=)
c.*863A= (n.*863A=)
c.1146A= (n.1146A=)
c.*828A= (n.*828A=)
c.1409A= (p.His470=)
c.*689A= (n.*689A=)
c.1517A= (p.His506=)
c.839A= (p.His280=)
c.1424A= (p.His475=)
c.1293A= (n.1293A=)
c.101A= (p.His34=)
c.674A= (p.His225=)
c.1352A= (p.His451=)
c.1475A= (p.His492=)
c.749A= (p.His250=)
c.1355A= (p.His452=)
n.2423+2739T=
n.1714A=
10g.18539330A>CCA376071413CACNB2,NSUN6c.1445A>C (p.His482Pro)
c.1310A>C (p.His437Pro)
c.1433A>C (p.His478Pro)
c.1505A>C (p.His502Pro)
c.1589A>C (p.His530Pro)
c.1427A>C (p.His476Pro)
c.1214A>C (p.His405Pro)
c.1391A>C (p.His464Pro)
c.*730A>C (n.*730A>C)
c.1331A>C (p.His444Pro)
c.*863A>C (n.*863A>C)
c.1146A>C (n.1146A>C)
c.*828A>C (n.*828A>C)
c.1409A>C (p.His470Pro)
c.*689A>C (n.*689A>C)
c.1517A>C (p.His506Pro)
c.839A>C (p.His280Pro)
c.1424A>C (p.His475Pro)
c.1293A>C (n.1293A>C)
c.101A>C (p.His34Pro)
c.674A>C (p.His225Pro)
c.1352A>C (p.His451Pro)
c.1475A>C (p.His492Pro)
c.749A>C (p.His250Pro)
c.1355A>C (p.His452Pro)
n.2423+2739T>G
n.1714A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.18539330A>GCA376071415CACNB2,NSUN6c.1445A>G (p.His482Arg)
c.1310A>G (p.His437Arg)
c.1433A>G (p.His478Arg)
c.1505A>G (p.His502Arg)
c.1589A>G (p.His530Arg)
c.1427A>G (p.His476Arg)
c.1214A>G (p.His405Arg)
c.1391A>G (p.His464Arg)
c.*730A>G (n.*730A>G)
c.1331A>G (p.His444Arg)
c.*863A>G (n.*863A>G)
c.1146A>G (n.1146A>G)
c.*828A>G (n.*828A>G)
c.1409A>G (p.His470Arg)
c.*689A>G (n.*689A>G)
c.1517A>G (p.His506Arg)
c.839A>G (p.His280Arg)
c.1424A>G (p.His475Arg)
c.1293A>G (n.1293A>G)
c.101A>G (p.His34Arg)
c.674A>G (p.His225Arg)
c.1352A>G (p.His451Arg)
c.1475A>G (p.His492Arg)
c.749A>G (p.His250Arg)
c.1355A>G (p.His452Arg)
n.2423+2739T>C
n.1714A>G
 gnomAD v4
10g.18539330A>TCA376071416CACNB2,NSUN6c.1445A>T (p.His482Leu)
c.1310A>T (p.His437Leu)
c.1433A>T (p.His478Leu)
c.1505A>T (p.His502Leu)
c.1589A>T (p.His530Leu)
c.1427A>T (p.His476Leu)
c.1214A>T (p.His405Leu)
c.1391A>T (p.His464Leu)
c.*730A>T (n.*730A>T)
c.1331A>T (p.His444Leu)
c.*863A>T (n.*863A>T)
c.1146A>T (n.1146A>T)
c.*828A>T (n.*828A>T)
c.1409A>T (p.His470Leu)
c.*689A>T (n.*689A>T)
c.1517A>T (p.His506Leu)
c.839A>T (p.His280Leu)
c.1424A>T (p.His475Leu)
c.1293A>T (n.1293A>T)
c.101A>T (p.His34Leu)
c.674A>T (p.His225Leu)
c.1352A>T (p.His451Leu)
c.1475A>T (p.His492Leu)
c.749A>T (p.His250Leu)
c.1355A>T (p.His452Leu)
n.2423+2739T>A
n.1714A>T
10g.18539331C>ACA376071418CACNB2,NSUN6c.1446C>A (p.His482Gln)
c.1311C>A (p.His437Gln)
c.1434C>A (p.His478Gln)
c.1506C>A (p.His502Gln)
c.1590C>A (p.His530Gln)
c.1428C>A (p.His476Gln)
c.1215C>A (p.His405Gln)
c.1392C>A (p.His464Gln)
c.*731C>A (n.*731C>A)
c.1332C>A (p.His444Gln)
c.*864C>A (n.*864C>A)
c.1147C>A (n.1147C>A)
c.*829C>A (n.*829C>A)
c.1410C>A (p.His470Gln)
c.*690C>A (n.*690C>A)
c.1518C>A (p.His506Gln)
c.840C>A (p.His280Gln)
c.1425C>A (p.His475Gln)
c.1294C>A (n.1294C>A)
c.102C>A (p.His34Gln)
c.675C>A (p.His225Gln)
c.1353C>A (p.His451Gln)
c.1476C>A (p.His492Gln)
c.750C>A (p.His250Gln)
c.1356C>A (p.His452Gln)
n.2423+2738G>T
n.1715C>A
10g.18539331C=CA1894173054CACNB2,NSUN6c.1446C= (p.His482=)
c.1311C= (p.His437=)
c.1434C= (p.His478=)
c.1506C= (p.His502=)
c.1590C= (p.His530=)
c.1428C= (p.His476=)
c.1215C= (p.His405=)
c.1392C= (p.His464=)
c.*731C= (n.*731C=)
c.1332C= (p.His444=)
c.*864C= (n.*864C=)
c.1147C= (n.1147C=)
c.*829C= (n.*829C=)
c.1410C= (p.His470=)
c.*690C= (n.*690C=)
c.1518C= (p.His506=)
c.840C= (p.His280=)
c.1425C= (p.His475=)
c.1294C= (n.1294C=)
c.102C= (p.His34=)
c.675C= (p.His225=)
c.1353C= (p.His451=)
c.1476C= (p.His492=)
c.750C= (p.His250=)
c.1356C= (p.His452=)
n.2423+2738G=
n.1715C=
10g.18539331C>GCA376071420CACNB2,NSUN6c.1446C>G (p.His482Gln)
c.1311C>G (p.His437Gln)
c.1434C>G (p.His478Gln)
c.1506C>G (p.His502Gln)
c.1590C>G (p.His530Gln)
c.1428C>G (p.His476Gln)
c.1215C>G (p.His405Gln)
c.1392C>G (p.His464Gln)
c.*731C>G (n.*731C>G)
c.1332C>G (p.His444Gln)
c.*864C>G (n.*864C>G)
c.1147C>G (n.1147C>G)
c.*829C>G (n.*829C>G)
c.1410C>G (p.His470Gln)
c.*690C>G (n.*690C>G)
c.1518C>G (p.His506Gln)
c.840C>G (p.His280Gln)
c.1425C>G (p.His475Gln)
c.1294C>G (n.1294C>G)
c.102C>G (p.His34Gln)
c.675C>G (p.His225Gln)
c.1353C>G (p.His451Gln)
c.1476C>G (p.His492Gln)
c.750C>G (p.His250Gln)
c.1356C>G (p.His452Gln)
n.2423+2738G>C
n.1715C>G
 gnomAD v4
10g.18539331C>TCA468627561CACNB2,NSUN6c.1446C>T (p.His482=)
c.1311C>T (p.His437=)
c.1434C>T (p.His478=)
c.1506C>T (p.His502=)
c.1590C>T (p.His530=)
c.1428C>T (p.His476=)
c.1215C>T (p.His405=)
c.1392C>T (p.His464=)
c.*731C>T (n.*731C>T)
c.1332C>T (p.His444=)
c.*864C>T (n.*864C>T)
c.1147C>T (n.1147C>T)
c.*829C>T (n.*829C>T)
c.1410C>T (p.His470=)
c.*690C>T (n.*690C>T)
c.1518C>T (p.His506=)
c.840C>T (p.His280=)
c.1425C>T (p.His475=)
c.1294C>T (n.1294C>T)
c.102C>T (p.His34=)
c.675C>T (p.His225=)
c.1353C>T (p.His451=)
c.1476C>T (p.His492=)
c.750C>T (p.His250=)
c.1356C>T (p.His452=)
n.2423+2738G>A
n.1715C>T
 dbSNP gnomAD v3 gnomAD v4
10g.18539332C>ACA376071422CACNB2,NSUN6c.1447C>A (p.Arg483Ser)
c.1312C>A (p.Arg438Ser)
c.1435C>A (p.Arg479Ser)
c.1507C>A (p.Arg503Ser)
c.1591C>A (p.Arg531Ser)
c.1429C>A (p.Arg477Ser)
c.1216C>A (p.Arg406Ser)
c.1393C>A (p.Arg465Ser)
c.*732C>A (n.*732C>A)
c.1333C>A (p.Arg445Ser)
c.*865C>A (n.*865C>A)
c.1148C>A (n.1148C>A)
c.*830C>A (n.*830C>A)
c.1411C>A (p.Arg471Ser)
c.*691C>A (n.*691C>A)
c.1519C>A (p.Arg507Ser)
c.841C>A (p.Arg281Ser)
c.1426C>A (p.Arg476Ser)
c.1295C>A (n.1295C>A)
c.103C>A (p.Arg35Ser)
c.676C>A (p.Arg226Ser)
c.1354C>A (p.Arg452Ser)
c.1477C>A (p.Arg493Ser)
c.751C>A (p.Arg251Ser)
c.1357C>A (p.Arg453Ser)
n.2423+2737G>T
n.1716C>A
10g.18539332C=CA1894173061CACNB2,NSUN6c.1447C= (p.Arg483=)
c.1312C= (p.Arg438=)
c.1435C= (p.Arg479=)
c.1507C= (p.Arg503=)
c.1591C= (p.Arg531=)
c.1429C= (p.Arg477=)
c.1216C= (p.Arg406=)
c.1393C= (p.Arg465=)
c.*732C= (n.*732C=)
c.1333C= (p.Arg445=)
c.*865C= (n.*865C=)
c.1148C= (n.1148C=)
c.*830C= (n.*830C=)
c.1411C= (p.Arg471=)
c.*691C= (n.*691C=)
c.1519C= (p.Arg507=)
c.841C= (p.Arg281=)
c.1426C= (p.Arg476=)
c.1295C= (n.1295C=)
c.103C= (p.Arg35=)
c.676C= (p.Arg226=)
c.1354C= (p.Arg452=)
c.1477C= (p.Arg493=)
c.751C= (p.Arg251=)
c.1357C= (p.Arg453=)
n.2423+2737G=
n.1716C=
10g.18539332C>GCA376071421CACNB2,NSUN6c.1447C>G (p.Arg483Gly)
c.1312C>G (p.Arg438Gly)
c.1435C>G (p.Arg479Gly)
c.1507C>G (p.Arg503Gly)
c.1591C>G (p.Arg531Gly)
c.1429C>G (p.Arg477Gly)
c.1216C>G (p.Arg406Gly)
c.1393C>G (p.Arg465Gly)
c.*732C>G (n.*732C>G)
c.1333C>G (p.Arg445Gly)
c.*865C>G (n.*865C>G)
c.1148C>G (n.1148C>G)
c.*830C>G (n.*830C>G)
c.1411C>G (p.Arg471Gly)
c.*691C>G (n.*691C>G)
c.1519C>G (p.Arg507Gly)
c.841C>G (p.Arg281Gly)
c.1426C>G (p.Arg476Gly)
c.1295C>G (n.1295C>G)
c.103C>G (p.Arg35Gly)
c.676C>G (p.Arg226Gly)
c.1354C>G (p.Arg452Gly)
c.1477C>G (p.Arg493Gly)
c.751C>G (p.Arg251Gly)
c.1357C>G (p.Arg453Gly)
n.2423+2737G>C
n.1716C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.18539332C>TCA5430104CACNB2,NSUN6c.1447C>T (p.Arg483Cys)
c.1312C>T (p.Arg438Cys)
c.1435C>T (p.Arg479Cys)
c.1507C>T (p.Arg503Cys)
c.1591C>T (p.Arg531Cys)
c.1429C>T (p.Arg477Cys)
c.1216C>T (p.Arg406Cys)
c.1393C>T (p.Arg465Cys)
c.*732C>T (n.*732C>T)
c.1333C>T (p.Arg445Cys)
c.*865C>T (n.*865C>T)
c.1148C>T (n.1148C>T)
c.*830C>T (n.*830C>T)
c.1411C>T (p.Arg471Cys)
c.*691C>T (n.*691C>T)
c.1519C>T (p.Arg507Cys)
c.841C>T (p.Arg281Cys)
c.1426C>T (p.Arg476Cys)
c.1295C>T (n.1295C>T)
c.103C>T (p.Arg35Cys)
c.676C>T (p.Arg226Cys)
c.1354C>T (p.Arg452Cys)
c.1477C>T (p.Arg493Cys)
c.751C>T (p.Arg251Cys)
c.1357C>T (p.Arg453Cys)
n.2423+2737G>A
n.1716C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
10g.18539333G>ACA301858CACNB2,NSUN6c.1448G>A (p.Arg483His)
c.1313G>A (p.Arg438His)
c.1436G>A (p.Arg479His)
c.1508G>A (p.Arg503His)
c.1592G>A (p.Arg531His)
c.1430G>A (p.Arg477His)
c.1217G>A (p.Arg406His)
c.1394G>A (p.Arg465His)
c.*733G>A (n.*733G>A)
c.1334G>A (p.Arg445His)
c.*866G>A (n.*866G>A)
c.1149G>A (n.1149G>A)
c.*831G>A (n.*831G>A)
c.1412G>A (p.Arg471His)
c.*692G>A (n.*692G>A)
c.1520G>A (p.Arg507His)
c.842G>A (p.Arg281His)
c.1427G>A (p.Arg476His)
c.1296G>A (n.1296G>A)
c.104G>A (p.Arg35His)
c.677G>A (p.Arg226His)
c.1355G>A (p.Arg452His)
c.1478G>A (p.Arg493His)
c.752G>A (p.Arg251His)
c.1358G>A (p.Arg453His)
n.2423+2736C>T
n.1717G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.18539333G>CCA203167178CACNB2,NSUN6c.1448G>C (p.Arg483Pro)
c.1313G>C (p.Arg438Pro)
c.1436G>C (p.Arg479Pro)
c.1508G>C (p.Arg503Pro)
c.1592G>C (p.Arg531Pro)
c.1430G>C (p.Arg477Pro)
c.1217G>C (p.Arg406Pro)
c.1394G>C (p.Arg465Pro)
c.*733G>C (n.*733G>C)
c.1334G>C (p.Arg445Pro)
c.*866G>C (n.*866G>C)
c.1149G>C (n.1149G>C)
c.*831G>C (n.*831G>C)
c.1412G>C (p.Arg471Pro)
c.*692G>C (n.*692G>C)
c.1520G>C (p.Arg507Pro)
c.842G>C (p.Arg281Pro)
c.1427G>C (p.Arg476Pro)
c.1296G>C (n.1296G>C)
c.104G>C (p.Arg35Pro)
c.677G>C (p.Arg226Pro)
c.1355G>C (p.Arg452Pro)
c.1478G>C (p.Arg493Pro)
c.752G>C (p.Arg251Pro)
c.1358G>C (p.Arg453Pro)
n.2423+2736C>G
n.1717G>C
 dbSNP
10g.18539333G=CA1894173076CACNB2,NSUN6c.1448G= (p.Arg483=)
c.1313G= (p.Arg438=)
c.1436G= (p.Arg479=)
c.1508G= (p.Arg503=)
c.1592G= (p.Arg531=)
c.1430G= (p.Arg477=)
c.1217G= (p.Arg406=)
c.1394G= (p.Arg465=)
c.*733G= (n.*733G=)
c.1334G= (p.Arg445=)
c.*866G= (n.*866G=)
c.1149G= (n.1149G=)
c.*831G= (n.*831G=)
c.1412G= (p.Arg471=)
c.*692G= (n.*692G=)
c.1520G= (p.Arg507=)
c.842G= (p.Arg281=)
c.1427G= (p.Arg476=)
c.1296G= (n.1296G=)
c.104G= (p.Arg35=)
c.677G= (p.Arg226=)
c.1355G= (p.Arg452=)
c.1478G= (p.Arg493=)
c.752G= (p.Arg251=)
c.1358G= (p.Arg453=)
n.2423+2736C=
n.1717G=
10g.18539333G>TCA376071425CACNB2,NSUN6c.1448G>T (p.Arg483Leu)
c.1313G>T (p.Arg438Leu)
c.1436G>T (p.Arg479Leu)
c.1508G>T (p.Arg503Leu)
c.1592G>T (p.Arg531Leu)
c.1430G>T (p.Arg477Leu)
c.1217G>T (p.Arg406Leu)
c.1394G>T (p.Arg465Leu)
c.*733G>T (n.*733G>T)
c.1334G>T (p.Arg445Leu)
c.*866G>T (n.*866G>T)
c.1149G>T (n.1149G>T)
c.*831G>T (n.*831G>T)
c.1412G>T (p.Arg471Leu)
c.*692G>T (n.*692G>T)
c.1520G>T (p.Arg507Leu)
c.842G>T (p.Arg281Leu)
c.1427G>T (p.Arg476Leu)
c.1296G>T (n.1296G>T)
c.104G>T (p.Arg35Leu)
c.677G>T (p.Arg226Leu)
c.1355G>T (p.Arg452Leu)
c.1478G>T (p.Arg493Leu)
c.752G>T (p.Arg251Leu)
c.1358G>T (p.Arg453Leu)
n.2423+2736C>A
n.1717G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.18539334C>ACA468627577CACNB2,NSUN6c.1449C>A (p.Arg483=)
c.1314C>A (p.Arg438=)
c.1437C>A (p.Arg479=)
c.1509C>A (p.Arg503=)
c.1593C>A (p.Arg531=)
c.1431C>A (p.Arg477=)
c.1218C>A (p.Arg406=)
c.1395C>A (p.Arg465=)
c.*734C>A (n.*734C>A)
c.1335C>A (p.Arg445=)
c.*867C>A (n.*867C>A)
c.1150C>A (n.1150C>A)
c.*832C>A (n.*832C>A)
c.1413C>A (p.Arg471=)
c.*693C>A (n.*693C>A)
c.1521C>A (p.Arg507=)
c.843C>A (p.Arg281=)
c.1428C>A (p.Arg476=)
c.1297C>A (n.1297C>A)
c.105C>A (p.Arg35=)
c.678C>A (p.Arg226=)
c.1356C>A (p.Arg452=)
c.1479C>A (p.Arg493=)
c.753C>A (p.Arg251=)
c.1359C>A (p.Arg453=)
n.2423+2735G>T
n.1718C>A
10g.18539334C=CA1894173084CACNB2,NSUN6c.1449C= (p.Arg483=)
c.1314C= (p.Arg438=)
c.1437C= (p.Arg479=)
c.1509C= (p.Arg503=)
c.1593C= (p.Arg531=)
c.1431C= (p.Arg477=)
c.1218C= (p.Arg406=)
c.1395C= (p.Arg465=)
c.*734C= (n.*734C=)
c.1335C= (p.Arg445=)
c.*867C= (n.*867C=)
c.1150C= (n.1150C=)
c.*832C= (n.*832C=)
c.1413C= (p.Arg471=)
c.*693C= (n.*693C=)
c.1521C= (p.Arg507=)
c.843C= (p.Arg281=)
c.1428C= (p.Arg476=)
c.1297C= (n.1297C=)
c.105C= (p.Arg35=)
c.678C= (p.Arg226=)
c.1356C= (p.Arg452=)
c.1479C= (p.Arg493=)
c.753C= (p.Arg251=)
c.1359C= (p.Arg453=)
n.2423+2735G=
n.1718C=
10g.18539334C>GCA468627579CACNB2,NSUN6c.1449C>G (p.Arg483=)
c.1314C>G (p.Arg438=)
c.1437C>G (p.Arg479=)
c.1509C>G (p.Arg503=)
c.1593C>G (p.Arg531=)
c.1431C>G (p.Arg477=)
c.1218C>G (p.Arg406=)
c.1395C>G (p.Arg465=)
c.*734C>G (n.*734C>G)
c.1335C>G (p.Arg445=)
c.*867C>G (n.*867C>G)
c.1150C>G (n.1150C>G)
c.*832C>G (n.*832C>G)
c.1413C>G (p.Arg471=)
c.*693C>G (n.*693C>G)
c.1521C>G (p.Arg507=)
c.843C>G (p.Arg281=)
c.1428C>G (p.Arg476=)
c.1297C>G (n.1297C>G)
c.105C>G (p.Arg35=)
c.678C>G (p.Arg226=)
c.1356C>G (p.Arg452=)
c.1479C>G (p.Arg493=)
c.753C>G (p.Arg251=)
c.1359C>G (p.Arg453=)
n.2423+2735G>C
n.1718C>G
 gnomAD v4
10g.18539334C>TCA468627582CACNB2,NSUN6c.1449C>T (p.Arg483=)
c.1314C>T (p.Arg438=)
c.1437C>T (p.Arg479=)
c.1509C>T (p.Arg503=)
c.1593C>T (p.Arg531=)
c.1431C>T (p.Arg477=)
c.1218C>T (p.Arg406=)
c.1395C>T (p.Arg465=)
c.*734C>T (n.*734C>T)
c.1335C>T (p.Arg445=)
c.*867C>T (n.*867C>T)
c.1150C>T (n.1150C>T)
c.*832C>T (n.*832C>T)
c.1413C>T (p.Arg471=)
c.*693C>T (n.*693C>T)
c.1521C>T (p.Arg507=)
c.843C>T (p.Arg281=)
c.1428C>T (p.Arg476=)
c.1297C>T (n.1297C>T)
c.105C>T (p.Arg35=)
c.678C>T (p.Arg226=)
c.1356C>T (p.Arg452=)
c.1479C>T (p.Arg493=)
c.753C>T (p.Arg251=)
c.1359C>T (p.Arg453=)
n.2423+2735G>A
n.1718C>T
 dbSNP gnomAD v2 gnomAD v4
10g.18539335T>ACA376071427CACNB2,NSUN6c.1450T>A (p.Ser484Thr)
c.1315T>A (p.Ser439Thr)
c.1438T>A (p.Ser480Thr)
c.1510T>A (p.Ser504Thr)
c.1594T>A (p.Ser532Thr)
c.1432T>A (p.Ser478Thr)
c.1219T>A (p.Ser407Thr)
c.1396T>A (p.Ser466Thr)
c.*735T>A (n.*735T>A)
c.1336T>A (p.Ser446Thr)
c.*868T>A (n.*868T>A)
c.1151T>A (n.1151T>A)
c.*833T>A (n.*833T>A)
c.1414T>A (p.Ser472Thr)
c.*694T>A (n.*694T>A)
c.1522T>A (p.Ser508Thr)
c.844T>A (p.Ser282Thr)
c.1429T>A (p.Ser477Thr)
c.1298T>A (n.1298T>A)
c.106T>A (p.Ser36Thr)
c.679T>A (p.Ser227Thr)
c.1357T>A (p.Ser453Thr)
c.1480T>A (p.Ser494Thr)
c.754T>A (p.Ser252Thr)
c.1360T>A (p.Ser454Thr)
n.2423+2734A>T
n.1719T>A
10g.18539335T>CCA376071429CACNB2,NSUN6c.1450T>C (p.Ser484Pro)
c.1315T>C (p.Ser439Pro)
c.1438T>C (p.Ser480Pro)
c.1510T>C (p.Ser504Pro)
c.1594T>C (p.Ser532Pro)
c.1432T>C (p.Ser478Pro)
c.1219T>C (p.Ser407Pro)
c.1396T>C (p.Ser466Pro)
c.*735T>C (n.*735T>C)
c.1336T>C (p.Ser446Pro)
c.*868T>C (n.*868T>C)
c.1151T>C (n.1151T>C)
c.*833T>C (n.*833T>C)
c.1414T>C (p.Ser472Pro)
c.*694T>C (n.*694T>C)
c.1522T>C (p.Ser508Pro)
c.844T>C (p.Ser282Pro)
c.1429T>C (p.Ser477Pro)
c.1298T>C (n.1298T>C)
c.106T>C (p.Ser36Pro)
c.679T>C (p.Ser227Pro)
c.1357T>C (p.Ser453Pro)
c.1480T>C (p.Ser494Pro)
c.754T>C (p.Ser252Pro)
c.1360T>C (p.Ser454Pro)
n.2423+2734A>G
n.1719T>C
10g.18539335T>GCA351728CACNB2,NSUN6c.1450T>G (p.Ser484Ala)
c.1315T>G (p.Ser439Ala)
c.1438T>G (p.Ser480Ala)
c.1510T>G (p.Ser504Ala)
c.1594T>G (p.Ser532Ala)
c.1432T>G (p.Ser478Ala)
c.1219T>G (p.Ser407Ala)
c.1396T>G (p.Ser466Ala)
c.*735T>G (n.*735T>G)
c.1336T>G (p.Ser446Ala)
c.*868T>G (n.*868T>G)
c.1151T>G (n.1151T>G)
c.*833T>G (n.*833T>G)
c.1414T>G (p.Ser472Ala)
c.*694T>G (n.*694T>G)
c.1522T>G (p.Ser508Ala)
c.844T>G (p.Ser282Ala)
c.1429T>G (p.Ser477Ala)
c.1298T>G (n.1298T>G)
c.106T>G (p.Ser36Ala)
c.679T>G (p.Ser227Ala)
c.1357T>G (p.Ser453Ala)
c.1480T>G (p.Ser494Ala)
c.754T>G (p.Ser252Ala)
c.1360T>G (p.Ser454Ala)
n.2423+2734A>C
n.1719T>G
 ClinVar dbSNP
10g.18539335T=CA1894173094CACNB2,NSUN6c.1450T= (p.Ser484=)
c.1315T= (p.Ser439=)
c.1438T= (p.Ser480=)
c.1510T= (p.Ser504=)
c.1594T= (p.Ser532=)
c.1432T= (p.Ser478=)
c.1219T= (p.Ser407=)
c.1396T= (p.Ser466=)
c.*735T= (n.*735T=)
c.1336T= (p.Ser446=)
c.*868T= (n.*868T=)
c.1151T= (n.1151T=)
c.*833T= (n.*833T=)
c.1414T= (p.Ser472=)
c.*694T= (n.*694T=)
c.1522T= (p.Ser508=)
c.844T= (p.Ser282=)
c.1429T= (p.Ser477=)
c.1298T= (n.1298T=)
c.106T= (p.Ser36=)
c.679T= (p.Ser227=)
c.1357T= (p.Ser453=)
c.1480T= (p.Ser494=)
c.754T= (p.Ser252=)
c.1360T= (p.Ser454=)
n.2423+2734A=
n.1719T=
10g.18539336C>ACA376071435CACNB2,NSUN6c.1451C>A (p.Ser484Tyr)
c.1316C>A (p.Ser439Tyr)
c.1439C>A (p.Ser480Tyr)
c.1511C>A (p.Ser504Tyr)
c.1595C>A (p.Ser532Tyr)
c.1433C>A (p.Ser478Tyr)
c.1220C>A (p.Ser407Tyr)
c.1397C>A (p.Ser466Tyr)
c.*736C>A (n.*736C>A)
c.1337C>A (p.Ser446Tyr)
c.*869C>A (n.*869C>A)
c.1152C>A (n.1152C>A)
c.*834C>A (n.*834C>A)
c.1415C>A (p.Ser472Tyr)
c.*695C>A (n.*695C>A)
c.1523C>A (p.Ser508Tyr)
c.845C>A (p.Ser282Tyr)
c.1430C>A (p.Ser477Tyr)
c.1299C>A (n.1299C>A)
c.107C>A (p.Ser36Tyr)
c.680C>A (p.Ser227Tyr)
c.1358C>A (p.Ser453Tyr)
c.1481C>A (p.Ser494Tyr)
c.755C>A (p.Ser252Tyr)
c.1361C>A (p.Ser454Tyr)
n.2423+2733G>T
n.1720C>A
10g.18539336C=CA1894173112CACNB2,NSUN6c.1451C= (p.Ser484=)
c.1316C= (p.Ser439=)
c.1439C= (p.Ser480=)
c.1511C= (p.Ser504=)
c.1595C= (p.Ser532=)
c.1433C= (p.Ser478=)
c.1220C= (p.Ser407=)
c.1397C= (p.Ser466=)
c.*736C= (n.*736C=)
c.1337C= (p.Ser446=)
c.*869C= (n.*869C=)
c.1152C= (n.1152C=)
c.*834C= (n.*834C=)
c.1415C= (p.Ser472=)
c.*695C= (n.*695C=)
c.1523C= (p.Ser508=)
c.845C= (p.Ser282=)
c.1430C= (p.Ser477=)
c.1299C= (n.1299C=)
c.107C= (p.Ser36=)
c.680C= (p.Ser227=)
c.1358C= (p.Ser453=)
c.1481C= (p.Ser494=)
c.755C= (p.Ser252=)
c.1361C= (p.Ser454=)
n.2423+2733G=
n.1720C=
10g.18539336C>GCA376071432CACNB2,NSUN6c.1451C>G (p.Ser484Cys)
c.1316C>G (p.Ser439Cys)
c.1439C>G (p.Ser480Cys)
c.1511C>G (p.Ser504Cys)
c.1595C>G (p.Ser532Cys)
c.1433C>G (p.Ser478Cys)
c.1220C>G (p.Ser407Cys)
c.1397C>G (p.Ser466Cys)
c.*736C>G (n.*736C>G)
c.1337C>G (p.Ser446Cys)
c.*869C>G (n.*869C>G)
c.1152C>G (n.1152C>G)
c.*834C>G (n.*834C>G)
c.1415C>G (p.Ser472Cys)
c.*695C>G (n.*695C>G)
c.1523C>G (p.Ser508Cys)
c.845C>G (p.Ser282Cys)
c.1430C>G (p.Ser477Cys)
c.1299C>G (n.1299C>G)
c.107C>G (p.Ser36Cys)
c.680C>G (p.Ser227Cys)
c.1358C>G (p.Ser453Cys)
c.1481C>G (p.Ser494Cys)
c.755C>G (p.Ser252Cys)
c.1361C>G (p.Ser454Cys)
n.2423+2733G>C
n.1720C>G
 dbSNP gnomAD v2
10g.18539336C>TCA376071434CACNB2,NSUN6c.1451C>T (p.Ser484Phe)
c.1316C>T (p.Ser439Phe)
c.1439C>T (p.Ser480Phe)
c.1511C>T (p.Ser504Phe)
c.1595C>T (p.Ser532Phe)
c.1433C>T (p.Ser478Phe)
c.1220C>T (p.Ser407Phe)
c.1397C>T (p.Ser466Phe)
c.*736C>T (n.*736C>T)
c.1337C>T (p.Ser446Phe)
c.*869C>T (n.*869C>T)
c.1152C>T (n.1152C>T)
c.*834C>T (n.*834C>T)
c.1415C>T (p.Ser472Phe)
c.*695C>T (n.*695C>T)
c.1523C>T (p.Ser508Phe)
c.845C>T (p.Ser282Phe)
c.1430C>T (p.Ser477Phe)
c.1299C>T (n.1299C>T)
c.107C>T (p.Ser36Phe)
c.680C>T (p.Ser227Phe)
c.1358C>T (p.Ser453Phe)
c.1481C>T (p.Ser494Phe)
c.755C>T (p.Ser252Phe)
c.1361C>T (p.Ser454Phe)
n.2423+2733G>A
n.1720C>T
10g.18539337T>ACA468627598CACNB2,NSUN6c.1452T>A (p.Ser484=)
c.1317T>A (p.Ser439=)
c.1440T>A (p.Ser480=)
c.1512T>A (p.Ser504=)
c.1596T>A (p.Ser532=)
c.1434T>A (p.Ser478=)
c.1221T>A (p.Ser407=)
c.1398T>A (p.Ser466=)
c.*737T>A (n.*737T>A)
c.1338T>A (p.Ser446=)
c.*870T>A (n.*870T>A)
c.1153T>A (n.1153T>A)
c.*835T>A (n.*835T>A)
c.1416T>A (p.Ser472=)
c.*696T>A (n.*696T>A)
c.1524T>A (p.Ser508=)
c.846T>A (p.Ser282=)
c.1431T>A (p.Ser477=)
c.1300T>A (n.1300T>A)
c.108T>A (p.Ser36=)
c.681T>A (p.Ser227=)
c.1359T>A (p.Ser453=)
c.1482T>A (p.Ser494=)
c.756T>A (p.Ser252=)
c.1362T>A (p.Ser454=)
n.2423+2732A>T
n.1721T>A
10g.18539337T>CCA468627599CACNB2,NSUN6c.1452T>C (p.Ser484=)
c.1317T>C (p.Ser439=)
c.1440T>C (p.Ser480=)
c.1512T>C (p.Ser504=)
c.1596T>C (p.Ser532=)
c.1434T>C (p.Ser478=)
c.1221T>C (p.Ser407=)
c.1398T>C (p.Ser466=)
c.*737T>C (n.*737T>C)
c.1338T>C (p.Ser446=)
c.*870T>C (n.*870T>C)
c.1153T>C (n.1153T>C)
c.*835T>C (n.*835T>C)
c.1416T>C (p.Ser472=)
c.*696T>C (n.*696T>C)
c.1524T>C (p.Ser508=)
c.846T>C (p.Ser282=)
c.1431T>C (p.Ser477=)
c.1300T>C (n.1300T>C)
c.108T>C (p.Ser36=)
c.681T>C (p.Ser227=)
c.1359T>C (p.Ser453=)
c.1482T>C (p.Ser494=)
c.756T>C (p.Ser252=)
c.1362T>C (p.Ser454=)
n.2423+2732A>G
n.1721T>C
10g.18539337T>GCA468627601CACNB2,NSUN6c.1452T>G (p.Ser484=)
c.1317T>G (p.Ser439=)
c.1440T>G (p.Ser480=)
c.1512T>G (p.Ser504=)
c.1596T>G (p.Ser532=)
c.1434T>G (p.Ser478=)
c.1221T>G (p.Ser407=)
c.1398T>G (p.Ser466=)
c.*737T>G (n.*737T>G)
c.1338T>G (p.Ser446=)
c.*870T>G (n.*870T>G)
c.1153T>G (n.1153T>G)
c.*835T>G (n.*835T>G)
c.1416T>G (p.Ser472=)
c.*696T>G (n.*696T>G)
c.1524T>G (p.Ser508=)
c.846T>G (p.Ser282=)
c.1431T>G (p.Ser477=)
c.1300T>G (n.1300T>G)
c.108T>G (p.Ser36=)
c.681T>G (p.Ser227=)
c.1359T>G (p.Ser453=)
c.1482T>G (p.Ser494=)
c.756T>G (p.Ser252=)
c.1362T>G (p.Ser454=)
n.2423+2732A>C
n.1721T>G
10g.18539338dupCA2608435592CACNB2,NSUN6c.1453dup (p.Ser485PhefsTer24)
c.1318dup (p.Ser440PhefsTer24)
c.1441dup (p.Ser481PhefsTer24)
c.1513dup (p.Ser505PhefsTer24)
c.1597dup (p.Ser533PhefsTer24)
c.1435dup (p.Ser479PhefsTer24)
c.1222dup (p.Ser408PhefsTer24)
c.1399dup (p.Ser467PhefsTer24)
c.*738dup (n.*738dup)
c.1339dup (p.Ser447PhefsTer24)
c.*871dup (n.*871dup)
c.1154dup (n.1154dup)
c.*836dup (n.*836dup)
c.1417dup (p.Ser473PhefsTer24)
c.*697dup (n.*697dup)
c.1525dup (p.Ser509PhefsTer24)
c.847dup (p.Ser283PhefsTer24)
c.1432dup (p.Ser478PhefsTer24)
c.1301dup (n.1301dup)
c.109dup (p.Ser37PhefsTer24)
c.682dup (p.Ser228PhefsTer24)
c.1360dup (p.Ser454PhefsTer24)
c.1483dup (p.Ser495PhefsTer24)
c.757dup (p.Ser253PhefsTer24)
c.1363dup (p.Ser455PhefsTer24)
n.2423+2732dup
n.1722dup
 gnomAD v4
10g.18539338T>ACA376071437CACNB2,NSUN6c.1453T>A (p.Ser485Thr)
c.1318T>A (p.Ser440Thr)
c.1441T>A (p.Ser481Thr)
c.1513T>A (p.Ser505Thr)
c.1597T>A (p.Ser533Thr)
c.1435T>A (p.Ser479Thr)
c.1222T>A (p.Ser408Thr)
c.1399T>A (p.Ser467Thr)
c.*738T>A (n.*738T>A)
c.1339T>A (p.Ser447Thr)
c.*871T>A (n.*871T>A)
c.1154T>A (n.1154T>A)
c.*836T>A (n.*836T>A)
c.1417T>A (p.Ser473Thr)
c.*697T>A (n.*697T>A)
c.1525T>A (p.Ser509Thr)
c.847T>A (p.Ser283Thr)
c.1432T>A (p.Ser478Thr)
c.1301T>A (n.1301T>A)
c.109T>A (p.Ser37Thr)
c.682T>A (p.Ser228Thr)
c.1360T>A (p.Ser454Thr)
c.1483T>A (p.Ser495Thr)
c.757T>A (p.Ser253Thr)
c.1363T>A (p.Ser455Thr)
n.2423+2731A>T
n.1722T>A
10g.18539338T>CCA376071438CACNB2,NSUN6c.1453T>C (p.Ser485Pro)
c.1318T>C (p.Ser440Pro)
c.1441T>C (p.Ser481Pro)
c.1513T>C (p.Ser505Pro)
c.1597T>C (p.Ser533Pro)
c.1435T>C (p.Ser479Pro)
c.1222T>C (p.Ser408Pro)
c.1399T>C (p.Ser467Pro)
c.*738T>C (n.*738T>C)
c.1339T>C (p.Ser447Pro)
c.*871T>C (n.*871T>C)
c.1154T>C (n.1154T>C)
c.*836T>C (n.*836T>C)
c.1417T>C (p.Ser473Pro)
c.*697T>C (n.*697T>C)
c.1525T>C (p.Ser509Pro)
c.847T>C (p.Ser283Pro)
c.1432T>C (p.Ser478Pro)
c.1301T>C (n.1301T>C)
c.109T>C (p.Ser37Pro)
c.682T>C (p.Ser228Pro)
c.1360T>C (p.Ser454Pro)
c.1483T>C (p.Ser495Pro)
c.757T>C (p.Ser253Pro)
c.1363T>C (p.Ser455Pro)
n.2423+2731A>G
n.1722T>C
10g.18539338T>GCA376071440CACNB2,NSUN6c.1453T>G (p.Ser485Ala)
c.1318T>G (p.Ser440Ala)
c.1441T>G (p.Ser481Ala)
c.1513T>G (p.Ser505Ala)
c.1597T>G (p.Ser533Ala)
c.1435T>G (p.Ser479Ala)
c.1222T>G (p.Ser408Ala)
c.1399T>G (p.Ser467Ala)
c.*738T>G (n.*738T>G)
c.1339T>G (p.Ser447Ala)
c.*871T>G (n.*871T>G)
c.1154T>G (n.1154T>G)
c.*836T>G (n.*836T>G)
c.1417T>G (p.Ser473Ala)
c.*697T>G (n.*697T>G)
c.1525T>G (p.Ser509Ala)
c.847T>G (p.Ser283Ala)
c.1432T>G (p.Ser478Ala)
c.1301T>G (n.1301T>G)
c.109T>G (p.Ser37Ala)
c.682T>G (p.Ser228Ala)
c.1360T>G (p.Ser454Ala)
c.1483T>G (p.Ser495Ala)
c.757T>G (p.Ser253Ala)
c.1363T>G (p.Ser455Ala)
n.2423+2731A>C
n.1722T>G
10g.18539339C>ACA376071442CACNB2,NSUN6c.1454C>A (p.Ser485Tyr)
c.1319C>A (p.Ser440Tyr)
c.1442C>A (p.Ser481Tyr)
c.1514C>A (p.Ser505Tyr)
c.1598C>A (p.Ser533Tyr)
c.1436C>A (p.Ser479Tyr)
c.1223C>A (p.Ser408Tyr)
c.1400C>A (p.Ser467Tyr)
c.*739C>A (n.*739C>A)
c.1340C>A (p.Ser447Tyr)
c.*872C>A (n.*872C>A)
c.1155C>A (n.1155C>A)
c.*837C>A (n.*837C>A)
c.1418C>A (p.Ser473Tyr)
c.*698C>A (n.*698C>A)
c.1526C>A (p.Ser509Tyr)
c.848C>A (p.Ser283Tyr)
c.1433C>A (p.Ser478Tyr)
c.1302C>A (n.1302C>A)
c.110C>A (p.Ser37Tyr)
c.683C>A (p.Ser228Tyr)
c.1361C>A (p.Ser454Tyr)
c.1484C>A (p.Ser495Tyr)
c.758C>A (p.Ser253Tyr)
c.1364C>A (p.Ser455Tyr)
n.2423+2730G>T
n.1723C>A
10g.18539339C>GCA376071444CACNB2,NSUN6c.1454C>G (p.Ser485Cys)
c.1319C>G (p.Ser440Cys)
c.1442C>G (p.Ser481Cys)
c.1514C>G (p.Ser505Cys)
c.1598C>G (p.Ser533Cys)
c.1436C>G (p.Ser479Cys)
c.1223C>G (p.Ser408Cys)
c.1400C>G (p.Ser467Cys)
c.*739C>G (n.*739C>G)
c.1340C>G (p.Ser447Cys)
c.*872C>G (n.*872C>G)
c.1155C>G (n.1155C>G)
c.*837C>G (n.*837C>G)
c.1418C>G (p.Ser473Cys)
c.*698C>G (n.*698C>G)
c.1526C>G (p.Ser509Cys)
c.848C>G (p.Ser283Cys)
c.1433C>G (p.Ser478Cys)
c.1302C>G (n.1302C>G)
c.110C>G (p.Ser37Cys)
c.683C>G (p.Ser228Cys)
c.1361C>G (p.Ser454Cys)
c.1484C>G (p.Ser495Cys)
c.758C>G (p.Ser253Cys)
c.1364C>G (p.Ser455Cys)
n.2423+2730G>C
n.1723C>G
10g.18539339C>TCA376071445CACNB2,NSUN6c.1454C>T (p.Ser485Phe)
c.1319C>T (p.Ser440Phe)
c.1442C>T (p.Ser481Phe)
c.1514C>T (p.Ser505Phe)
c.1598C>T (p.Ser533Phe)
c.1436C>T (p.Ser479Phe)
c.1223C>T (p.Ser408Phe)
c.1400C>T (p.Ser467Phe)
c.*739C>T (n.*739C>T)
c.1340C>T (p.Ser447Phe)
c.*872C>T (n.*872C>T)
c.1155C>T (n.1155C>T)
c.*837C>T (n.*837C>T)
c.1418C>T (p.Ser473Phe)
c.*698C>T (n.*698C>T)
c.1526C>T (p.Ser509Phe)
c.848C>T (p.Ser283Phe)
c.1433C>T (p.Ser478Phe)
c.1302C>T (n.1302C>T)
c.110C>T (p.Ser37Phe)
c.683C>T (p.Ser228Phe)
c.1361C>T (p.Ser454Phe)
c.1484C>T (p.Ser495Phe)
c.758C>T (p.Ser253Phe)
c.1364C>T (p.Ser455Phe)
n.2423+2730G>A
n.1723C>T
 gnomAD v4
10g.18539340C>ACA468627618CACNB2,NSUN6c.1455C>A (p.Ser485=)
c.1320C>A (p.Ser440=)
c.1443C>A (p.Ser481=)
c.1515C>A (p.Ser505=)
c.1599C>A (p.Ser533=)
c.1437C>A (p.Ser479=)
c.1224C>A (p.Ser408=)
c.1401C>A (p.Ser467=)
c.*740C>A (n.*740C>A)
c.1341C>A (p.Ser447=)
c.*873C>A (n.*873C>A)
c.1156C>A (n.1156C>A)
c.*838C>A (n.*838C>A)
c.1419C>A (p.Ser473=)
c.*699C>A (n.*699C>A)
c.1527C>A (p.Ser509=)
c.849C>A (p.Ser283=)
c.1434C>A (p.Ser478=)
c.1303C>A (n.1303C>A)
c.111C>A (p.Ser37=)
c.684C>A (p.Ser228=)
c.1362C>A (p.Ser454=)
c.1485C>A (p.Ser495=)
c.759C>A (p.Ser253=)
c.1365C>A (p.Ser455=)
n.2423+2729G>T
n.1724C>A
10g.18539340C>GCA468627620CACNB2,NSUN6c.1455C>G (p.Ser485=)
c.1320C>G (p.Ser440=)
c.1443C>G (p.Ser481=)
c.1515C>G (p.Ser505=)
c.1599C>G (p.Ser533=)
c.1437C>G (p.Ser479=)
c.1224C>G (p.Ser408=)
c.1401C>G (p.Ser467=)
c.*740C>G (n.*740C>G)
c.1341C>G (p.Ser447=)
c.*873C>G (n.*873C>G)
c.1156C>G (n.1156C>G)
c.*838C>G (n.*838C>G)
c.1419C>G (p.Ser473=)
c.*699C>G (n.*699C>G)
c.1527C>G (p.Ser509=)
c.849C>G (p.Ser283=)
c.1434C>G (p.Ser478=)
c.1303C>G (n.1303C>G)
c.111C>G (p.Ser37=)
c.684C>G (p.Ser228=)
c.1362C>G (p.Ser454=)
c.1485C>G (p.Ser495=)
c.759C>G (p.Ser253=)
c.1365C>G (p.Ser455=)
n.2423+2729G>C
n.1724C>G
10g.18539340C>TCA468627623CACNB2,NSUN6c.1455C>T (p.Ser485=)
c.1320C>T (p.Ser440=)
c.1443C>T (p.Ser481=)
c.1515C>T (p.Ser505=)
c.1599C>T (p.Ser533=)
c.1437C>T (p.Ser479=)
c.1224C>T (p.Ser408=)
c.1401C>T (p.Ser467=)
c.*740C>T (n.*740C>T)
c.1341C>T (p.Ser447=)
c.*873C>T (n.*873C>T)
c.1156C>T (n.1156C>T)
c.*838C>T (n.*838C>T)
c.1419C>T (p.Ser473=)
c.*699C>T (n.*699C>T)
c.1527C>T (p.Ser509=)
c.849C>T (p.Ser283=)
c.1434C>T (p.Ser478=)
c.1303C>T (n.1303C>T)
c.111C>T (p.Ser37=)
c.684C>T (p.Ser228=)
c.1362C>T (p.Ser454=)
c.1485C>T (p.Ser495=)
c.759C>T (p.Ser253=)
c.1365C>T (p.Ser455=)
n.2423+2729G>A
n.1724C>T
10g.18539341T>ACA376071447CACNB2,NSUN6c.1456T>A (p.Ser486Thr)
c.1321T>A (p.Ser441Thr)
c.1444T>A (p.Ser482Thr)
c.1516T>A (p.Ser506Thr)
c.1600T>A (p.Ser534Thr)
c.1438T>A (p.Ser480Thr)
c.1225T>A (p.Ser409Thr)
c.1402T>A (p.Ser468Thr)
c.*741T>A (n.*741T>A)
c.1342T>A (p.Ser448Thr)
c.*874T>A (n.*874T>A)
c.1157T>A (n.1157T>A)
c.*839T>A (n.*839T>A)
c.1420T>A (p.Ser474Thr)
c.*700T>A (n.*700T>A)
c.1528T>A (p.Ser510Thr)
c.850T>A (p.Ser284Thr)
c.1435T>A (p.Ser479Thr)
c.1304T>A (n.1304T>A)
c.112T>A (p.Ser38Thr)
c.685T>A (p.Ser229Thr)
c.1363T>A (p.Ser455Thr)
c.1486T>A (p.Ser496Thr)
c.760T>A (p.Ser254Thr)
c.1366T>A (p.Ser456Thr)
n.2423+2728A>T
n.1725T>A
 dbSNP gnomAD v4
10g.18539341T>CCA376071449CACNB2,NSUN6c.1456T>C (p.Ser486Pro)
c.1321T>C (p.Ser441Pro)
c.1444T>C (p.Ser482Pro)
c.1516T>C (p.Ser506Pro)
c.1600T>C (p.Ser534Pro)
c.1438T>C (p.Ser480Pro)
c.1225T>C (p.Ser409Pro)
c.1402T>C (p.Ser468Pro)
c.*741T>C (n.*741T>C)
c.1342T>C (p.Ser448Pro)
c.*874T>C (n.*874T>C)
c.1157T>C (n.1157T>C)
c.*839T>C (n.*839T>C)
c.1420T>C (p.Ser474Pro)
c.*700T>C (n.*700T>C)
c.1528T>C (p.Ser510Pro)
c.850T>C (p.Ser284Pro)
c.1435T>C (p.Ser479Pro)
c.1304T>C (n.1304T>C)
c.112T>C (p.Ser38Pro)
c.685T>C (p.Ser229Pro)
c.1363T>C (p.Ser455Pro)
c.1486T>C (p.Ser496Pro)
c.760T>C (p.Ser254Pro)
c.1366T>C (p.Ser456Pro)
n.2423+2728A>G
n.1725T>C
10g.18539341T>GCA376071450CACNB2,NSUN6c.1456T>G (p.Ser486Ala)
c.1321T>G (p.Ser441Ala)
c.1444T>G (p.Ser482Ala)
c.1516T>G (p.Ser506Ala)
c.1600T>G (p.Ser534Ala)
c.1438T>G (p.Ser480Ala)
c.1225T>G (p.Ser409Ala)
c.1402T>G (p.Ser468Ala)
c.*741T>G (n.*741T>G)
c.1342T>G (p.Ser448Ala)
c.*874T>G (n.*874T>G)
c.1157T>G (n.1157T>G)
c.*839T>G (n.*839T>G)
c.1420T>G (p.Ser474Ala)
c.*700T>G (n.*700T>G)
c.1528T>G (p.Ser510Ala)
c.850T>G (p.Ser284Ala)
c.1435T>G (p.Ser479Ala)
c.1304T>G (n.1304T>G)
c.112T>G (p.Ser38Ala)
c.685T>G (p.Ser229Ala)
c.1363T>G (p.Ser455Ala)
c.1486T>G (p.Ser496Ala)
c.760T>G (p.Ser254Ala)
c.1366T>G (p.Ser456Ala)
n.2423+2728A>C
n.1725T>G
 dbSNP
10g.18539341T=CA1894173120CACNB2,NSUN6c.1456T= (p.Ser486=)
c.1321T= (p.Ser441=)
c.1444T= (p.Ser482=)
c.1516T= (p.Ser506=)
c.1600T= (p.Ser534=)
c.1438T= (p.Ser480=)
c.1225T= (p.Ser409=)
c.1402T= (p.Ser468=)
c.*741T= (n.*741T=)
c.1342T= (p.Ser448=)
c.*874T= (n.*874T=)
c.1157T= (n.1157T=)
c.*839T= (n.*839T=)
c.1420T= (p.Ser474=)
c.*700T= (n.*700T=)
c.1528T= (p.Ser510=)
c.850T= (p.Ser284=)
c.1435T= (p.Ser479=)
c.1304T= (n.1304T=)
c.112T= (p.Ser38=)
c.685T= (p.Ser229=)
c.1363T= (p.Ser455=)
c.1486T= (p.Ser496=)
c.760T= (p.Ser254=)
c.1366T= (p.Ser456=)
n.2423+2728A=
n.1725T=
10g.18539342C>ACA376071452CACNB2,NSUN6c.1457C>A (p.Ser486Tyr)
c.1322C>A (p.Ser441Tyr)
c.1445C>A (p.Ser482Tyr)
c.1517C>A (p.Ser506Tyr)
c.1601C>A (p.Ser534Tyr)
c.1439C>A (p.Ser480Tyr)
c.1226C>A (p.Ser409Tyr)
c.1403C>A (p.Ser468Tyr)
c.*742C>A (n.*742C>A)
c.1343C>A (p.Ser448Tyr)
c.*875C>A (n.*875C>A)
c.1158C>A (n.1158C>A)
c.*840C>A (n.*840C>A)
c.1421C>A (p.Ser474Tyr)
c.*701C>A (n.*701C>A)
c.1529C>A (p.Ser510Tyr)
c.851C>A (p.Ser284Tyr)
c.1436C>A (p.Ser479Tyr)
c.1305C>A (n.1305C>A)
c.113C>A (p.Ser38Tyr)
c.686C>A (p.Ser229Tyr)
c.1364C>A (p.Ser455Tyr)
c.1487C>A (p.Ser496Tyr)
c.761C>A (p.Ser254Tyr)
c.1367C>A (p.Ser456Tyr)
n.2423+2727G>T
n.1726C>A
10g.18539342C>GCA376071453CACNB2,NSUN6c.1457C>G (p.Ser486Cys)
c.1322C>G (p.Ser441Cys)
c.1445C>G (p.Ser482Cys)
c.1517C>G (p.Ser506Cys)
c.1601C>G (p.Ser534Cys)
c.1439C>G (p.Ser480Cys)
c.1226C>G (p.Ser409Cys)
c.1403C>G (p.Ser468Cys)
c.*742C>G (n.*742C>G)
c.1343C>G (p.Ser448Cys)
c.*875C>G (n.*875C>G)
c.1158C>G (n.1158C>G)
c.*840C>G (n.*840C>G)
c.1421C>G (p.Ser474Cys)
c.*701C>G (n.*701C>G)
c.1529C>G (p.Ser510Cys)
c.851C>G (p.Ser284Cys)
c.1436C>G (p.Ser479Cys)
c.1305C>G (n.1305C>G)
c.113C>G (p.Ser38Cys)
c.686C>G (p.Ser229Cys)
c.1364C>G (p.Ser455Cys)
c.1487C>G (p.Ser496Cys)
c.761C>G (p.Ser254Cys)
c.1367C>G (p.Ser456Cys)
n.2423+2727G>C
n.1726C>G
10g.18539342C>TCA376071455CACNB2,NSUN6c.1457C>T (p.Ser486Phe)
c.1322C>T (p.Ser441Phe)
c.1445C>T (p.Ser482Phe)
c.1517C>T (p.Ser506Phe)
c.1601C>T (p.Ser534Phe)
c.1439C>T (p.Ser480Phe)
c.1226C>T (p.Ser409Phe)
c.1403C>T (p.Ser468Phe)
c.*742C>T (n.*742C>T)
c.1343C>T (p.Ser448Phe)
c.*875C>T (n.*875C>T)
c.1158C>T (n.1158C>T)
c.*840C>T (n.*840C>T)
c.1421C>T (p.Ser474Phe)
c.*701C>T (n.*701C>T)
c.1529C>T (p.Ser510Phe)
c.851C>T (p.Ser284Phe)
c.1436C>T (p.Ser479Phe)
c.1305C>T (n.1305C>T)
c.113C>T (p.Ser38Phe)
c.686C>T (p.Ser229Phe)
c.1364C>T (p.Ser455Phe)
c.1487C>T (p.Ser496Phe)
c.761C>T (p.Ser254Phe)
c.1367C>T (p.Ser456Phe)
n.2423+2727G>A
n.1726C>T
 gnomAD v4
10g.18539343C>ACA468627639CACNB2,NSUN6c.1458C>A (p.Ser486=)
c.1323C>A (p.Ser441=)
c.1446C>A (p.Ser482=)
c.1518C>A (p.Ser506=)
c.1602C>A (p.Ser534=)
c.1440C>A (p.Ser480=)
c.1227C>A (p.Ser409=)
c.1404C>A (p.Ser468=)
c.*743C>A (n.*743C>A)
c.1344C>A (p.Ser448=)
c.*876C>A (n.*876C>A)
c.1159C>A (n.1159C>A)
c.*841C>A (n.*841C>A)
c.1422C>A (p.Ser474=)
c.*702C>A (n.*702C>A)
c.1530C>A (p.Ser510=)
c.852C>A (p.Ser284=)
c.1437C>A (p.Ser479=)
c.1306C>A (n.1306C>A)
c.114C>A (p.Ser38=)
c.687C>A (p.Ser229=)
c.1365C>A (p.Ser455=)
c.1488C>A (p.Ser496=)
c.762C>A (p.Ser254=)
c.1368C>A (p.Ser456=)
n.2423+2726G>T
n.1727C>A
10g.18539343C=CA1894173128CACNB2,NSUN6c.1458C= (p.Ser486=)
c.1323C= (p.Ser441=)
c.1446C= (p.Ser482=)
c.1518C= (p.Ser506=)
c.1602C= (p.Ser534=)
c.1440C= (p.Ser480=)
c.1227C= (p.Ser409=)
c.1404C= (p.Ser468=)
c.*743C= (n.*743C=)
c.1344C= (p.Ser448=)
c.*876C= (n.*876C=)
c.1159C= (n.1159C=)
c.*841C= (n.*841C=)
c.1422C= (p.Ser474=)
c.*702C= (n.*702C=)
c.1530C= (p.Ser510=)
c.852C= (p.Ser284=)
c.1437C= (p.Ser479=)
c.1306C= (n.1306C=)
c.114C= (p.Ser38=)
c.687C= (p.Ser229=)
c.1365C= (p.Ser455=)
c.1488C= (p.Ser496=)
c.762C= (p.Ser254=)
c.1368C= (p.Ser456=)
n.2423+2726G=
n.1727C=
10g.18539343C>GCA468627643CACNB2,NSUN6c.1458C>G (p.Ser486=)
c.1323C>G (p.Ser441=)
c.1446C>G (p.Ser482=)
c.1518C>G (p.Ser506=)
c.1602C>G (p.Ser534=)
c.1440C>G (p.Ser480=)
c.1227C>G (p.Ser409=)
c.1404C>G (p.Ser468=)
c.*743C>G (n.*743C>G)
c.1344C>G (p.Ser448=)
c.*876C>G (n.*876C>G)
c.1159C>G (n.1159C>G)
c.*841C>G (n.*841C>G)
c.1422C>G (p.Ser474=)
c.*702C>G (n.*702C>G)
c.1530C>G (p.Ser510=)
c.852C>G (p.Ser284=)
c.1437C>G (p.Ser479=)
c.1306C>G (n.1306C>G)
c.114C>G (p.Ser38=)
c.687C>G (p.Ser229=)
c.1365C>G (p.Ser455=)
c.1488C>G (p.Ser496=)
c.762C>G (p.Ser254=)
c.1368C>G (p.Ser456=)
n.2423+2726G>C
n.1727C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.18539343C>TCA5430105CACNB2,NSUN6c.1458C>T (p.Ser486=)
c.1323C>T (p.Ser441=)
c.1446C>T (p.Ser482=)
c.1518C>T (p.Ser506=)
c.1602C>T (p.Ser534=)
c.1440C>T (p.Ser480=)
c.1227C>T (p.Ser409=)
c.1404C>T (p.Ser468=)
c.*743C>T (n.*743C>T)
c.1344C>T (p.Ser448=)
c.*876C>T (n.*876C>T)
c.1159C>T (n.1159C>T)
c.*841C>T (n.*841C>T)
c.1422C>T (p.Ser474=)
c.*702C>T (n.*702C>T)
c.1530C>T (p.Ser510=)
c.852C>T (p.Ser284=)
c.1437C>T (p.Ser479=)
c.1306C>T (n.1306C>T)
c.114C>T (p.Ser38=)
c.687C>T (p.Ser229=)
c.1365C>T (p.Ser455=)
c.1488C>T (p.Ser496=)
c.762C>T (p.Ser254=)
c.1368C>T (p.Ser456=)
n.2423+2726G>A
n.1727C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539344T>ACA376071457CACNB2,NSUN6c.1459T>A (p.Ser487Thr)
c.1324T>A (p.Ser442Thr)
c.1447T>A (p.Ser483Thr)
c.1519T>A (p.Ser507Thr)
c.1603T>A (p.Ser535Thr)
c.1441T>A (p.Ser481Thr)
c.1228T>A (p.Ser410Thr)
c.1405T>A (p.Ser469Thr)
c.*744T>A (n.*744T>A)
c.1345T>A (p.Ser449Thr)
c.*877T>A (n.*877T>A)
c.1160T>A (n.1160T>A)
c.*842T>A (n.*842T>A)
c.1423T>A (p.Ser475Thr)
c.*703T>A (n.*703T>A)
c.1531T>A (p.Ser511Thr)
c.853T>A (p.Ser285Thr)
c.1438T>A (p.Ser480Thr)
c.1307T>A (n.1307T>A)
c.115T>A (p.Ser39Thr)
c.688T>A (p.Ser230Thr)
c.1366T>A (p.Ser456Thr)
c.1489T>A (p.Ser497Thr)
c.763T>A (p.Ser255Thr)
c.1369T>A (p.Ser457Thr)
n.2423+2725A>T
n.1728T>A
10g.18539344T>CCA376071460CACNB2,NSUN6c.1459T>C (p.Ser487Pro)
c.1324T>C (p.Ser442Pro)
c.1447T>C (p.Ser483Pro)
c.1519T>C (p.Ser507Pro)
c.1603T>C (p.Ser535Pro)
c.1441T>C (p.Ser481Pro)
c.1228T>C (p.Ser410Pro)
c.1405T>C (p.Ser469Pro)
c.*744T>C (n.*744T>C)
c.1345T>C (p.Ser449Pro)
c.*877T>C (n.*877T>C)
c.1160T>C (n.1160T>C)
c.*842T>C (n.*842T>C)
c.1423T>C (p.Ser475Pro)
c.*703T>C (n.*703T>C)
c.1531T>C (p.Ser511Pro)
c.853T>C (p.Ser285Pro)
c.1438T>C (p.Ser480Pro)
c.1307T>C (n.1307T>C)
c.115T>C (p.Ser39Pro)
c.688T>C (p.Ser230Pro)
c.1366T>C (p.Ser456Pro)
c.1489T>C (p.Ser497Pro)
c.763T>C (p.Ser255Pro)
c.1369T>C (p.Ser457Pro)
n.2423+2725A>G
n.1728T>C
10g.18539344T>GCA376071458CACNB2,NSUN6c.1459T>G (p.Ser487Ala)
c.1324T>G (p.Ser442Ala)
c.1447T>G (p.Ser483Ala)
c.1519T>G (p.Ser507Ala)
c.1603T>G (p.Ser535Ala)
c.1441T>G (p.Ser481Ala)
c.1228T>G (p.Ser410Ala)
c.1405T>G (p.Ser469Ala)
c.*744T>G (n.*744T>G)
c.1345T>G (p.Ser449Ala)
c.*877T>G (n.*877T>G)
c.1160T>G (n.1160T>G)
c.*842T>G (n.*842T>G)
c.1423T>G (p.Ser475Ala)
c.*703T>G (n.*703T>G)
c.1531T>G (p.Ser511Ala)
c.853T>G (p.Ser285Ala)
c.1438T>G (p.Ser480Ala)
c.1307T>G (n.1307T>G)
c.115T>G (p.Ser39Ala)
c.688T>G (p.Ser230Ala)
c.1366T>G (p.Ser456Ala)
c.1489T>G (p.Ser497Ala)
c.763T>G (p.Ser255Ala)
c.1369T>G (p.Ser457Ala)
n.2423+2725A>C
n.1728T>G
10g.18539345C>ACA376071462CACNB2,NSUN6c.1460C>A (p.Ser487Ter)
c.1325C>A (p.Ser442Ter)
c.1448C>A (p.Ser483Ter)
c.1520C>A (p.Ser507Ter)
c.1604C>A (p.Ser535Ter)
c.1442C>A (p.Ser481Ter)
c.1229C>A (p.Ser410Ter)
c.1406C>A (p.Ser469Ter)
c.*745C>A (n.*745C>A)
c.1346C>A (p.Ser449Ter)
c.*878C>A (n.*878C>A)
c.1161C>A (n.1161C>A)
c.*843C>A (n.*843C>A)
c.1424C>A (p.Ser475Ter)
c.*704C>A (n.*704C>A)
c.1532C>A (p.Ser511Ter)
c.854C>A (p.Ser285Ter)
c.1439C>A (p.Ser480Ter)
c.1308C>A (n.1308C>A)
c.116C>A (p.Ser39Ter)
c.689C>A (p.Ser230Ter)
c.1367C>A (p.Ser456Ter)
c.1490C>A (p.Ser497Ter)
c.764C>A (p.Ser255Ter)
c.1370C>A (p.Ser457Ter)
n.2423+2724G>T
n.1729C>A
10g.18539345C=CA1894173143CACNB2,NSUN6c.1460C= (p.Ser487=)
c.1325C= (p.Ser442=)
c.1448C= (p.Ser483=)
c.1520C= (p.Ser507=)
c.1604C= (p.Ser535=)
c.1442C= (p.Ser481=)
c.1229C= (p.Ser410=)
c.1406C= (p.Ser469=)
c.*745C= (n.*745C=)
c.1346C= (p.Ser449=)
c.*878C= (n.*878C=)
c.1161C= (n.1161C=)
c.*843C= (n.*843C=)
c.1424C= (p.Ser475=)
c.*704C= (n.*704C=)
c.1532C= (p.Ser511=)
c.854C= (p.Ser285=)
c.1439C= (p.Ser480=)
c.1308C= (n.1308C=)
c.116C= (p.Ser39=)
c.689C= (p.Ser230=)
c.1367C= (p.Ser456=)
c.1490C= (p.Ser497=)
c.764C= (p.Ser255=)
c.1370C= (p.Ser457=)
n.2423+2724G=
n.1729C=
10g.18539345C>GCA376071464CACNB2,NSUN6c.1460C>G (p.Ser487Ter)
c.1325C>G (p.Ser442Ter)
c.1448C>G (p.Ser483Ter)
c.1520C>G (p.Ser507Ter)
c.1604C>G (p.Ser535Ter)
c.1442C>G (p.Ser481Ter)
c.1229C>G (p.Ser410Ter)
c.1406C>G (p.Ser469Ter)
c.*745C>G (n.*745C>G)
c.1346C>G (p.Ser449Ter)
c.*878C>G (n.*878C>G)
c.1161C>G (n.1161C>G)
c.*843C>G (n.*843C>G)
c.1424C>G (p.Ser475Ter)
c.*704C>G (n.*704C>G)
c.1532C>G (p.Ser511Ter)
c.854C>G (p.Ser285Ter)
c.1439C>G (p.Ser480Ter)
c.1308C>G (n.1308C>G)
c.116C>G (p.Ser39Ter)
c.689C>G (p.Ser230Ter)
c.1367C>G (p.Ser456Ter)
c.1490C>G (p.Ser497Ter)
c.764C>G (p.Ser255Ter)
c.1370C>G (p.Ser457Ter)
n.2423+2724G>C
n.1729C>G
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
10g.18539345C>TCA340919CACNB2,NSUN6c.1460C>T (p.Ser487Leu)
c.1325C>T (p.Ser442Leu)
c.1448C>T (p.Ser483Leu)
c.1520C>T (p.Ser507Leu)
c.1604C>T (p.Ser535Leu)
c.1442C>T (p.Ser481Leu)
c.1229C>T (p.Ser410Leu)
c.1406C>T (p.Ser469Leu)
c.*745C>T (n.*745C>T)
c.1346C>T (p.Ser449Leu)
c.*878C>T (n.*878C>T)
c.1161C>T (n.1161C>T)
c.*843C>T (n.*843C>T)
c.1424C>T (p.Ser475Leu)
c.*704C>T (n.*704C>T)
c.1532C>T (p.Ser511Leu)
c.854C>T (p.Ser285Leu)
c.1439C>T (p.Ser480Leu)
c.1308C>T (n.1308C>T)
c.116C>T (p.Ser39Leu)
c.689C>T (p.Ser230Leu)
c.1367C>T (p.Ser456Leu)
c.1490C>T (p.Ser497Leu)
c.764C>T (p.Ser255Leu)
c.1370C>T (p.Ser457Leu)
n.2423+2724G>A
n.1729C>T
 ClinVar dbSNP gnomAD v4
10g.18539346A>CCA468627664CACNB2,NSUN6c.1461A>C (p.Ser487=)
c.1326A>C (p.Ser442=)
c.1449A>C (p.Ser483=)
c.1521A>C (p.Ser507=)
c.1605A>C (p.Ser535=)
c.1443A>C (p.Ser481=)
c.1230A>C (p.Ser410=)
c.1407A>C (p.Ser469=)
c.*746A>C (n.*746A>C)
c.1347A>C (p.Ser449=)
c.*879A>C (n.*879A>C)
c.1162A>C (n.1162A>C)
c.*844A>C (n.*844A>C)
c.1425A>C (p.Ser475=)
c.*705A>C (n.*705A>C)
c.1533A>C (p.Ser511=)
c.855A>C (p.Ser285=)
c.1440A>C (p.Ser480=)
c.1309A>C (n.1309A>C)
c.117A>C (p.Ser39=)
c.690A>C (p.Ser230=)
c.1368A>C (p.Ser456=)
c.1491A>C (p.Ser497=)
c.765A>C (p.Ser255=)
c.1371A>C (p.Ser457=)
n.2423+2723T>G
n.1730A>C
10g.18539346A>GCA468627672CACNB2,NSUN6c.1461A>G (p.Ser487=)
c.1326A>G (p.Ser442=)
c.1449A>G (p.Ser483=)
c.1521A>G (p.Ser507=)
c.1605A>G (p.Ser535=)
c.1443A>G (p.Ser481=)
c.1230A>G (p.Ser410=)
c.1407A>G (p.Ser469=)
c.*746A>G (n.*746A>G)
c.1347A>G (p.Ser449=)
c.*879A>G (n.*879A>G)
c.1162A>G (n.1162A>G)
c.*844A>G (n.*844A>G)
c.1425A>G (p.Ser475=)
c.*705A>G (n.*705A>G)
c.1533A>G (p.Ser511=)
c.855A>G (p.Ser285=)
c.1440A>G (p.Ser480=)
c.1309A>G (n.1309A>G)
c.117A>G (p.Ser39=)
c.690A>G (p.Ser230=)
c.1368A>G (p.Ser456=)
c.1491A>G (p.Ser497=)
c.765A>G (p.Ser255=)
c.1371A>G (p.Ser457=)
n.2423+2723T>C
n.1730A>G
10g.18539346A>TCA468627668CACNB2,NSUN6c.1461A>T (p.Ser487=)
c.1326A>T (p.Ser442=)
c.1449A>T (p.Ser483=)
c.1521A>T (p.Ser507=)
c.1605A>T (p.Ser535=)
c.1443A>T (p.Ser481=)
c.1230A>T (p.Ser410=)
c.1407A>T (p.Ser469=)
c.*746A>T (n.*746A>T)
c.1347A>T (p.Ser449=)
c.*879A>T (n.*879A>T)
c.1162A>T (n.1162A>T)
c.*844A>T (n.*844A>T)
c.1425A>T (p.Ser475=)
c.*705A>T (n.*705A>T)
c.1533A>T (p.Ser511=)
c.855A>T (p.Ser285=)
c.1440A>T (p.Ser480=)
c.1309A>T (n.1309A>T)
c.117A>T (p.Ser39=)
c.690A>T (p.Ser230=)
c.1368A>T (p.Ser456=)
c.1491A>T (p.Ser497=)
c.765A>T (p.Ser255=)
c.1371A>T (p.Ser457=)
n.2423+2723T>A
n.1730A>T
10g.18539347delCA2608435593CACNB2,NSUN6c.1462del (p.Ala488ProfsTer?)
c.1327del (p.Ala443ProfsTer?)
c.1450del (p.Ala484ProfsTer?)
c.1522del (p.Ala508ProfsTer?)
c.1606del (p.Ala536ProfsTer?)
c.1444del (p.Ala482ProfsTer?)
c.1231del (p.Ala411ProfsTer?)
c.1408del (p.Ala470ProfsTer?)
c.*747del (n.*747del)
c.1348del (p.Ala450ProfsTer?)
c.*880del (n.*880del)
c.1163del (n.1163del)
c.*845del (n.*845del)
c.1426del (p.Ala476ProfsTer?)
c.*706del (n.*706del)
c.1534del (p.Ala512ProfsTer?)
c.856del (p.Ala286ProfsTer?)
c.1441del (p.Ala481ProfsTer?)
c.1310del (n.1310del)
c.118del (p.Ala40ProfsTer?)
c.691del (p.Ala231ProfsTer?)
c.1369del (p.Ala457ProfsTer?)
c.1492del (p.Ala498ProfsTer?)
c.766del (p.Ala256ProfsTer?)
c.1372del (p.Ala458ProfsTer?)
n.2423+2722del
n.1731del
 gnomAD v4
10g.18539347G>ACA5430106CACNB2,NSUN6c.1462G>A (p.Ala488Thr)
c.1327G>A (p.Ala443Thr)
c.1450G>A (p.Ala484Thr)
c.1522G>A (p.Ala508Thr)
c.1606G>A (p.Ala536Thr)
c.1444G>A (p.Ala482Thr)
c.1231G>A (p.Ala411Thr)
c.1408G>A (p.Ala470Thr)
c.*747G>A (n.*747G>A)
c.1348G>A (p.Ala450Thr)
c.*880G>A (n.*880G>A)
c.1163G>A (n.1163G>A)
c.*845G>A (n.*845G>A)
c.1426G>A (p.Ala476Thr)
c.*706G>A (n.*706G>A)
c.1534G>A (p.Ala512Thr)
c.856G>A (p.Ala286Thr)
c.1441G>A (p.Ala481Thr)
c.1310G>A (n.1310G>A)
c.118G>A (p.Ala40Thr)
c.691G>A (p.Ala231Thr)
c.1369G>A (p.Ala457Thr)
c.1492G>A (p.Ala498Thr)
c.766G>A (p.Ala256Thr)
c.1372G>A (p.Ala458Thr)
n.2423+2722C>T
n.1731G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539347G>CCA376071467CACNB2,NSUN6c.1462G>C (p.Ala488Pro)
c.1327G>C (p.Ala443Pro)
c.1450G>C (p.Ala484Pro)
c.1522G>C (p.Ala508Pro)
c.1606G>C (p.Ala536Pro)
c.1444G>C (p.Ala482Pro)
c.1231G>C (p.Ala411Pro)
c.1408G>C (p.Ala470Pro)
c.*747G>C (n.*747G>C)
c.1348G>C (p.Ala450Pro)
c.*880G>C (n.*880G>C)
c.1163G>C (n.1163G>C)
c.*845G>C (n.*845G>C)
c.1426G>C (p.Ala476Pro)
c.*706G>C (n.*706G>C)
c.1534G>C (p.Ala512Pro)
c.856G>C (p.Ala286Pro)
c.1441G>C (p.Ala481Pro)
c.1310G>C (n.1310G>C)
c.118G>C (p.Ala40Pro)
c.691G>C (p.Ala231Pro)
c.1369G>C (p.Ala457Pro)
c.1492G>C (p.Ala498Pro)
c.766G>C (p.Ala256Pro)
c.1372G>C (p.Ala458Pro)
n.2423+2722C>G
n.1731G>C
 dbSNP gnomAD v2 gnomAD v4
10g.18539347G=CA1894173156CACNB2,NSUN6c.1462G= (p.Ala488=)
c.1327G= (p.Ala443=)
c.1450G= (p.Ala484=)
c.1522G= (p.Ala508=)
c.1606G= (p.Ala536=)
c.1444G= (p.Ala482=)
c.1231G= (p.Ala411=)
c.1408G= (p.Ala470=)
c.*747G= (n.*747G=)
c.1348G= (p.Ala450=)
c.*880G= (n.*880G=)
c.1163G= (n.1163G=)
c.*845G= (n.*845G=)
c.1426G= (p.Ala476=)
c.*706G= (n.*706G=)
c.1534G= (p.Ala512=)
c.856G= (p.Ala286=)
c.1441G= (p.Ala481=)
c.1310G= (n.1310G=)
c.118G= (p.Ala40=)
c.691G= (p.Ala231=)
c.1369G= (p.Ala457=)
c.1492G= (p.Ala498=)
c.766G= (p.Ala256=)
c.1372G= (p.Ala458=)
n.2423+2722C=
n.1731G=
10g.18539347G>TCA376071468CACNB2,NSUN6c.1462G>T (p.Ala488Ser)
c.1327G>T (p.Ala443Ser)
c.1450G>T (p.Ala484Ser)
c.1522G>T (p.Ala508Ser)
c.1606G>T (p.Ala536Ser)
c.1444G>T (p.Ala482Ser)
c.1231G>T (p.Ala411Ser)
c.1408G>T (p.Ala470Ser)
c.*747G>T (n.*747G>T)
c.1348G>T (p.Ala450Ser)
c.*880G>T (n.*880G>T)
c.1163G>T (n.1163G>T)
c.*845G>T (n.*845G>T)
c.1426G>T (p.Ala476Ser)
c.*706G>T (n.*706G>T)
c.1534G>T (p.Ala512Ser)
c.856G>T (p.Ala286Ser)
c.1441G>T (p.Ala481Ser)
c.1310G>T (n.1310G>T)
c.118G>T (p.Ala40Ser)
c.691G>T (p.Ala231Ser)
c.1369G>T (p.Ala457Ser)
c.1492G>T (p.Ala498Ser)
c.766G>T (p.Ala256Ser)
c.1372G>T (p.Ala458Ser)
n.2423+2722C>A
n.1731G>T
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
10g.18539348_18539371dupCA2786836046CACNB2,NSUN6c.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
10g.18539348C>ACA376071470CACNB2,NSUN6c.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
10g.18539348C=CA1894173161CACNB2,NSUN6c.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=
10g.18539348C>GCA376071471CACNB2,NSUN6c.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
10g.18539348C>TCA376071473CACNB2,NSUN6c.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
10g.18539349C>ACA468627701CACNB2,NSUN6c.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
10g.18539349C>GCA468627698CACNB2,NSUN6c.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
10g.18539349C>TCA468627694CACNB2,NSUN6c.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
10g.18539350C>ACA376071475CACNB2,NSUN6c.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
10g.18539350C=CA1894173164CACNB2,NSUN6c.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=
10g.18539350C>GCA376071477CACNB2,NSUN6c.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
10g.18539350C>TCA376071478CACNB2,NSUN6c.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
10g.18539351C>ACA376071483CACNB2,NSUN6c.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
10g.18539351C>GCA376071482CACNB2,NSUN6c.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
10g.18539351C>TCA376071480CACNB2,NSUN6c.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
10g.18539352A=CA1894173166CACNB2,NSUN6c.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=
10g.18539352A>CCA468627734CACNB2,NSUN6c.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
10g.18539352A>GCA468627726CACNB2,NSUN6c.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
10g.18539352A>TCA468627730CACNB2,NSUN6c.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
10g.18539352_18539355delinsACACCA1894173165CACNB2,NSUN6c.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
10g.18539353delCA2608435594CACNB2,NSUN6c.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
10g.18539353C>ACA376071485CACNB2,NSUN6c.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
10g.18539353C=CA1894173169CACNB2,NSUN6c.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=
10g.18539353C>GCA5430108CACNB2,NSUN6c.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
10g.18539353C>TCA376071487CACNB2,NSUN6c.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
10g.18539356_18539358delCA5430107CACNB2,NSUN6c.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

Number of alleles fetched