WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.18539345C>A | CA376071462 | CACNB2,NSUN6 | c.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 | |
| 10 | g.18539345C= | CA1894173143 | CACNB2,NSUN6 | c.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= | |
| 10 | g.18539345C>G | CA376071464 | CACNB2,NSUN6 | c.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 |
| 10 | g.18539345C>T | CA340919 | CACNB2,NSUN6 | c.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 |
| 10 | g.18539346A>C | CA468627664 | CACNB2,NSUN6 | c.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 | |
| 10 | g.18539346A>G | CA468627672 | CACNB2,NSUN6 | c.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 | |
| 10 | g.18539346A>T | CA468627668 | CACNB2,NSUN6 | c.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 | |
| 10 | g.18539347del | CA2608435593 | CACNB2,NSUN6 | c.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 |
| 10 | g.18539347G>A | CA5430106 | CACNB2,NSUN6 | c.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 |
| 10 | g.18539347G>C | CA376071467 | CACNB2,NSUN6 | c.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 |
| 10 | g.18539347G= | CA1894173156 | CACNB2,NSUN6 | c.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= | |
| 10 | g.18539347G>T | CA376071468 | CACNB2,NSUN6 | c.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 |
| 10 | g.18539348C>A | CA376071470 | CACNB2,NSUN6 | c.1463C>A (p.Ala488Asp) c.1328C>A (p.Ala443Asp) c.1451C>A (p.Ala484Asp) c.1523C>A (p.Ala508Asp) c.1607C>A (p.Ala536Asp) c.1445C>A (p.Ala482Asp) c.1232C>A (p.Ala411Asp) c.1409C>A (p.Ala470Asp) c.*748C>A (n.*748C>A) c.1349C>A (p.Ala450Asp) c.*881C>A (n.*881C>A) c.1164C>A (n.1164C>A) c.*846C>A (n.*846C>A) c.1427C>A (p.Ala476Asp) c.*707C>A (n.*707C>A) c.1535C>A (p.Ala512Asp) c.857C>A (p.Ala286Asp) c.1442C>A (p.Ala481Asp) c.1311C>A (n.1311C>A) c.119C>A (p.Ala40Asp) c.692C>A (p.Ala231Asp) c.1370C>A (p.Ala457Asp) c.1493C>A (p.Ala498Asp) c.767C>A (p.Ala256Asp) c.1373C>A (p.Ala458Asp) n.2423+2721G>T n.1732C>A | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 10 | g.18539348C= | CA1894173161 | CACNB2,NSUN6 | c.1463C= (p.Ala488=) c.1328C= (p.Ala443=) c.1451C= (p.Ala484=) c.1523C= (p.Ala508=) c.1607C= (p.Ala536=) c.1445C= (p.Ala482=) c.1232C= (p.Ala411=) c.1409C= (p.Ala470=) c.*748C= (n.*748C=) c.1349C= (p.Ala450=) c.*881C= (n.*881C=) c.1164C= (n.1164C=) c.*846C= (n.*846C=) c.1427C= (p.Ala476=) c.*707C= (n.*707C=) c.1535C= (p.Ala512=) c.857C= (p.Ala286=) c.1442C= (p.Ala481=) c.1311C= (n.1311C=) c.119C= (p.Ala40=) c.692C= (p.Ala231=) c.1370C= (p.Ala457=) c.1493C= (p.Ala498=) c.767C= (p.Ala256=) c.1373C= (p.Ala458=) n.2423+2721G= n.1732C= | |
| 10 | g.18539348C>G | CA376071471 | CACNB2,NSUN6 | c.1463C>G (p.Ala488Gly) c.1328C>G (p.Ala443Gly) c.1451C>G (p.Ala484Gly) c.1523C>G (p.Ala508Gly) c.1607C>G (p.Ala536Gly) c.1445C>G (p.Ala482Gly) c.1232C>G (p.Ala411Gly) c.1409C>G (p.Ala470Gly) c.*748C>G (n.*748C>G) c.1349C>G (p.Ala450Gly) c.*881C>G (n.*881C>G) c.1164C>G (n.1164C>G) c.*846C>G (n.*846C>G) c.1427C>G (p.Ala476Gly) c.*707C>G (n.*707C>G) c.1535C>G (p.Ala512Gly) c.857C>G (p.Ala286Gly) c.1442C>G (p.Ala481Gly) c.1311C>G (n.1311C>G) c.119C>G (p.Ala40Gly) c.692C>G (p.Ala231Gly) c.1370C>G (p.Ala457Gly) c.1493C>G (p.Ala498Gly) c.767C>G (p.Ala256Gly) c.1373C>G (p.Ala458Gly) n.2423+2721G>C n.1732C>G | ClinVar gnomAD v4 |
| 10 | g.18539348C>T | CA376071473 | CACNB2,NSUN6 | c.1463C>T (p.Ala488Val) c.1328C>T (p.Ala443Val) c.1451C>T (p.Ala484Val) c.1523C>T (p.Ala508Val) c.1607C>T (p.Ala536Val) c.1445C>T (p.Ala482Val) c.1232C>T (p.Ala411Val) c.1409C>T (p.Ala470Val) c.*748C>T (n.*748C>T) c.1349C>T (p.Ala450Val) c.*881C>T (n.*881C>T) c.1164C>T (n.1164C>T) c.*846C>T (n.*846C>T) c.1427C>T (p.Ala476Val) c.*707C>T (n.*707C>T) c.1535C>T (p.Ala512Val) c.857C>T (p.Ala286Val) c.1442C>T (p.Ala481Val) c.1311C>T (n.1311C>T) c.119C>T (p.Ala40Val) c.692C>T (p.Ala231Val) c.1370C>T (p.Ala457Val) c.1493C>T (p.Ala498Val) c.767C>T (p.Ala256Val) c.1373C>T (p.Ala458Val) n.2423+2721G>A n.1732C>T | dbSNP gnomAD v2 |
| 10 | g.18539349C>A | CA468627701 | CACNB2,NSUN6 | c.1464C>A (p.Ala488=) c.1329C>A (p.Ala443=) c.1452C>A (p.Ala484=) c.1524C>A (p.Ala508=) c.1608C>A (p.Ala536=) c.1446C>A (p.Ala482=) c.1233C>A (p.Ala411=) c.1410C>A (p.Ala470=) c.*749C>A (n.*749C>A) c.1350C>A (p.Ala450=) c.*882C>A (n.*882C>A) c.1165C>A (n.1165C>A) c.*847C>A (n.*847C>A) c.1428C>A (p.Ala476=) c.*708C>A (n.*708C>A) c.1536C>A (p.Ala512=) c.858C>A (p.Ala286=) c.1443C>A (p.Ala481=) c.1312C>A (n.1312C>A) c.120C>A (p.Ala40=) c.693C>A (p.Ala231=) c.1371C>A (p.Ala457=) c.1494C>A (p.Ala498=) c.768C>A (p.Ala256=) c.1374C>A (p.Ala458=) n.2423+2720G>T n.1733C>A | |
| 10 | g.18539349C>G | CA468627698 | CACNB2,NSUN6 | c.1464C>G (p.Ala488=) c.1329C>G (p.Ala443=) c.1452C>G (p.Ala484=) c.1524C>G (p.Ala508=) c.1608C>G (p.Ala536=) c.1446C>G (p.Ala482=) c.1233C>G (p.Ala411=) c.1410C>G (p.Ala470=) c.*749C>G (n.*749C>G) c.1350C>G (p.Ala450=) c.*882C>G (n.*882C>G) c.1165C>G (n.1165C>G) c.*847C>G (n.*847C>G) c.1428C>G (p.Ala476=) c.*708C>G (n.*708C>G) c.1536C>G (p.Ala512=) c.858C>G (p.Ala286=) c.1443C>G (p.Ala481=) c.1312C>G (n.1312C>G) c.120C>G (p.Ala40=) c.693C>G (p.Ala231=) c.1371C>G (p.Ala457=) c.1494C>G (p.Ala498=) c.768C>G (p.Ala256=) c.1374C>G (p.Ala458=) n.2423+2720G>C n.1733C>G | gnomAD v4 |
| 10 | g.18539349C>T | CA468627694 | CACNB2,NSUN6 | c.1464C>T (p.Ala488=) c.1329C>T (p.Ala443=) c.1452C>T (p.Ala484=) c.1524C>T (p.Ala508=) c.1608C>T (p.Ala536=) c.1446C>T (p.Ala482=) c.1233C>T (p.Ala411=) c.1410C>T (p.Ala470=) c.*749C>T (n.*749C>T) c.1350C>T (p.Ala450=) c.*882C>T (n.*882C>T) c.1165C>T (n.1165C>T) c.*847C>T (n.*847C>T) c.1428C>T (p.Ala476=) c.*708C>T (n.*708C>T) c.1536C>T (p.Ala512=) c.858C>T (p.Ala286=) c.1443C>T (p.Ala481=) c.1312C>T (n.1312C>T) c.120C>T (p.Ala40=) c.693C>T (p.Ala231=) c.1371C>T (p.Ala457=) c.1494C>T (p.Ala498=) c.768C>T (p.Ala256=) c.1374C>T (p.Ala458=) n.2423+2720G>A n.1733C>T | |
| 10 | g.18539350C>A | CA376071475 | CACNB2,NSUN6 | c.1465C>A (p.Pro489Thr) c.1330C>A (p.Pro444Thr) c.1453C>A (p.Pro485Thr) c.1525C>A (p.Pro509Thr) c.1609C>A (p.Pro537Thr) c.1447C>A (p.Pro483Thr) c.1234C>A (p.Pro412Thr) c.1411C>A (p.Pro471Thr) c.*750C>A (n.*750C>A) c.1351C>A (p.Pro451Thr) c.*883C>A (n.*883C>A) c.1166C>A (n.1166C>A) c.*848C>A (n.*848C>A) c.1429C>A (p.Pro477Thr) c.*709C>A (n.*709C>A) c.1537C>A (p.Pro513Thr) c.859C>A (p.Pro287Thr) c.1444C>A (p.Pro482Thr) c.1313C>A (n.1313C>A) c.121C>A (p.Pro41Thr) c.694C>A (p.Pro232Thr) c.1372C>A (p.Pro458Thr) c.1495C>A (p.Pro499Thr) c.769C>A (p.Pro257Thr) c.1375C>A (p.Pro459Thr) n.2423+2719G>T n.1734C>A | |
| 10 | g.18539350C= | CA1894173164 | CACNB2,NSUN6 | c.1465C= (p.Pro489=) c.1330C= (p.Pro444=) c.1453C= (p.Pro485=) c.1525C= (p.Pro509=) c.1609C= (p.Pro537=) c.1447C= (p.Pro483=) c.1234C= (p.Pro412=) c.1411C= (p.Pro471=) c.*750C= (n.*750C=) c.1351C= (p.Pro451=) c.*883C= (n.*883C=) c.1166C= (n.1166C=) c.*848C= (n.*848C=) c.1429C= (p.Pro477=) c.*709C= (n.*709C=) c.1537C= (p.Pro513=) c.859C= (p.Pro287=) c.1444C= (p.Pro482=) c.1313C= (n.1313C=) c.121C= (p.Pro41=) c.694C= (p.Pro232=) c.1372C= (p.Pro458=) c.1495C= (p.Pro499=) c.769C= (p.Pro257=) c.1375C= (p.Pro459=) n.2423+2719G= n.1734C= | |
| 10 | g.18539350C>G | CA376071477 | CACNB2,NSUN6 | c.1465C>G (p.Pro489Ala) c.1330C>G (p.Pro444Ala) c.1453C>G (p.Pro485Ala) c.1525C>G (p.Pro509Ala) c.1609C>G (p.Pro537Ala) c.1447C>G (p.Pro483Ala) c.1234C>G (p.Pro412Ala) c.1411C>G (p.Pro471Ala) c.*750C>G (n.*750C>G) c.1351C>G (p.Pro451Ala) c.*883C>G (n.*883C>G) c.1166C>G (n.1166C>G) c.*848C>G (n.*848C>G) c.1429C>G (p.Pro477Ala) c.*709C>G (n.*709C>G) c.1537C>G (p.Pro513Ala) c.859C>G (p.Pro287Ala) c.1444C>G (p.Pro482Ala) c.1313C>G (n.1313C>G) c.121C>G (p.Pro41Ala) c.694C>G (p.Pro232Ala) c.1372C>G (p.Pro458Ala) c.1495C>G (p.Pro499Ala) c.769C>G (p.Pro257Ala) c.1375C>G (p.Pro459Ala) n.2423+2719G>C n.1734C>G | dbSNP |
| 10 | g.18539350C>T | CA376071478 | CACNB2,NSUN6 | c.1465C>T (p.Pro489Ser) c.1330C>T (p.Pro444Ser) c.1453C>T (p.Pro485Ser) c.1525C>T (p.Pro509Ser) c.1609C>T (p.Pro537Ser) c.1447C>T (p.Pro483Ser) c.1234C>T (p.Pro412Ser) c.1411C>T (p.Pro471Ser) c.*750C>T (n.*750C>T) c.1351C>T (p.Pro451Ser) c.*883C>T (n.*883C>T) c.1166C>T (n.1166C>T) c.*848C>T (n.*848C>T) c.1429C>T (p.Pro477Ser) c.*709C>T (n.*709C>T) c.1537C>T (p.Pro513Ser) c.859C>T (p.Pro287Ser) c.1444C>T (p.Pro482Ser) c.1313C>T (n.1313C>T) c.121C>T (p.Pro41Ser) c.694C>T (p.Pro232Ser) c.1372C>T (p.Pro458Ser) c.1495C>T (p.Pro499Ser) c.769C>T (p.Pro257Ser) c.1375C>T (p.Pro459Ser) n.2423+2719G>A n.1734C>T | |
| 10 | g.18539351C>A | CA376071483 | CACNB2,NSUN6 | c.1466C>A (p.Pro489Gln) c.1331C>A (p.Pro444Gln) c.1454C>A (p.Pro485Gln) c.1526C>A (p.Pro509Gln) c.1610C>A (p.Pro537Gln) c.1448C>A (p.Pro483Gln) c.1235C>A (p.Pro412Gln) c.1412C>A (p.Pro471Gln) c.*751C>A (n.*751C>A) c.1352C>A (p.Pro451Gln) c.*884C>A (n.*884C>A) c.1167C>A (n.1167C>A) c.*849C>A (n.*849C>A) c.1430C>A (p.Pro477Gln) c.*710C>A (n.*710C>A) c.1538C>A (p.Pro513Gln) c.860C>A (p.Pro287Gln) c.1445C>A (p.Pro482Gln) c.1314C>A (n.1314C>A) c.122C>A (p.Pro41Gln) c.695C>A (p.Pro232Gln) c.1373C>A (p.Pro458Gln) c.1496C>A (p.Pro499Gln) c.770C>A (p.Pro257Gln) c.1376C>A (p.Pro459Gln) n.2423+2718G>T n.1735C>A | |
| 10 | g.18539351C>G | CA376071482 | CACNB2,NSUN6 | c.1466C>G (p.Pro489Arg) c.1331C>G (p.Pro444Arg) c.1454C>G (p.Pro485Arg) c.1526C>G (p.Pro509Arg) c.1610C>G (p.Pro537Arg) c.1448C>G (p.Pro483Arg) c.1235C>G (p.Pro412Arg) c.1412C>G (p.Pro471Arg) c.*751C>G (n.*751C>G) c.1352C>G (p.Pro451Arg) c.*884C>G (n.*884C>G) c.1167C>G (n.1167C>G) c.*849C>G (n.*849C>G) c.1430C>G (p.Pro477Arg) c.*710C>G (n.*710C>G) c.1538C>G (p.Pro513Arg) c.860C>G (p.Pro287Arg) c.1445C>G (p.Pro482Arg) c.1314C>G (n.1314C>G) c.122C>G (p.Pro41Arg) c.695C>G (p.Pro232Arg) c.1373C>G (p.Pro458Arg) c.1496C>G (p.Pro499Arg) c.770C>G (p.Pro257Arg) c.1376C>G (p.Pro459Arg) n.2423+2718G>C n.1735C>G | |
| 10 | g.18539351C>T | CA376071480 | CACNB2,NSUN6 | c.1466C>T (p.Pro489Leu) c.1331C>T (p.Pro444Leu) c.1454C>T (p.Pro485Leu) c.1526C>T (p.Pro509Leu) c.1610C>T (p.Pro537Leu) c.1448C>T (p.Pro483Leu) c.1235C>T (p.Pro412Leu) c.1412C>T (p.Pro471Leu) c.*751C>T (n.*751C>T) c.1352C>T (p.Pro451Leu) c.*884C>T (n.*884C>T) c.1167C>T (n.1167C>T) c.*849C>T (n.*849C>T) c.1430C>T (p.Pro477Leu) c.*710C>T (n.*710C>T) c.1538C>T (p.Pro513Leu) c.860C>T (p.Pro287Leu) c.1445C>T (p.Pro482Leu) c.1314C>T (n.1314C>T) c.122C>T (p.Pro41Leu) c.695C>T (p.Pro232Leu) c.1373C>T (p.Pro458Leu) c.1496C>T (p.Pro499Leu) c.770C>T (p.Pro257Leu) c.1376C>T (p.Pro459Leu) n.2423+2718G>A n.1735C>T | |
| 10 | g.18539352A= | CA1894173166 | CACNB2,NSUN6 | c.1467A= (p.Pro489=) c.1332A= (p.Pro444=) c.1455A= (p.Pro485=) c.1527A= (p.Pro509=) c.1611A= (p.Pro537=) c.1449A= (p.Pro483=) c.1236A= (p.Pro412=) c.1413A= (p.Pro471=) c.*752A= (n.*752A=) c.1353A= (p.Pro451=) c.*885A= (n.*885A=) c.1168A= (n.1168A=) c.*850A= (n.*850A=) c.1431A= (p.Pro477=) c.*711A= (n.*711A=) c.1539A= (p.Pro513=) c.861A= (p.Pro287=) c.1446A= (p.Pro482=) c.1315A= (n.1315A=) c.123A= (p.Pro41=) c.696A= (p.Pro232=) c.1374A= (p.Pro458=) c.1497A= (p.Pro499=) c.771A= (p.Pro257=) c.1377A= (p.Pro459=) n.2423+2717T= n.1736A= | |
| 10 | g.18539352A>C | CA468627734 | CACNB2,NSUN6 | c.1467A>C (p.Pro489=) c.1332A>C (p.Pro444=) c.1455A>C (p.Pro485=) c.1527A>C (p.Pro509=) c.1611A>C (p.Pro537=) c.1449A>C (p.Pro483=) c.1236A>C (p.Pro412=) c.1413A>C (p.Pro471=) c.*752A>C (n.*752A>C) c.1353A>C (p.Pro451=) c.*885A>C (n.*885A>C) c.1168A>C (n.1168A>C) c.*850A>C (n.*850A>C) c.1431A>C (p.Pro477=) c.*711A>C (n.*711A>C) c.1539A>C (p.Pro513=) c.861A>C (p.Pro287=) c.1446A>C (p.Pro482=) c.1315A>C (n.1315A>C) c.123A>C (p.Pro41=) c.696A>C (p.Pro232=) c.1374A>C (p.Pro458=) c.1497A>C (p.Pro499=) c.771A>C (p.Pro257=) c.1377A>C (p.Pro459=) n.2423+2717T>G n.1736A>C | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.18539352A>G | CA468627726 | CACNB2,NSUN6 | c.1467A>G (p.Pro489=) c.1332A>G (p.Pro444=) c.1455A>G (p.Pro485=) c.1527A>G (p.Pro509=) c.1611A>G (p.Pro537=) c.1449A>G (p.Pro483=) c.1236A>G (p.Pro412=) c.1413A>G (p.Pro471=) c.*752A>G (n.*752A>G) c.1353A>G (p.Pro451=) c.*885A>G (n.*885A>G) c.1168A>G (n.1168A>G) c.*850A>G (n.*850A>G) c.1431A>G (p.Pro477=) c.*711A>G (n.*711A>G) c.1539A>G (p.Pro513=) c.861A>G (p.Pro287=) c.1446A>G (p.Pro482=) c.1315A>G (n.1315A>G) c.123A>G (p.Pro41=) c.696A>G (p.Pro232=) c.1374A>G (p.Pro458=) c.1497A>G (p.Pro499=) c.771A>G (p.Pro257=) c.1377A>G (p.Pro459=) n.2423+2717T>C n.1736A>G | |
| 10 | g.18539352A>T | CA468627730 | CACNB2,NSUN6 | c.1467A>T (p.Pro489=) c.1332A>T (p.Pro444=) c.1455A>T (p.Pro485=) c.1527A>T (p.Pro509=) c.1611A>T (p.Pro537=) c.1449A>T (p.Pro483=) c.1236A>T (p.Pro412=) c.1413A>T (p.Pro471=) c.*752A>T (n.*752A>T) c.1353A>T (p.Pro451=) c.*885A>T (n.*885A>T) c.1168A>T (n.1168A>T) c.*850A>T (n.*850A>T) c.1431A>T (p.Pro477=) c.*711A>T (n.*711A>T) c.1539A>T (p.Pro513=) c.861A>T (p.Pro287=) c.1446A>T (p.Pro482=) c.1315A>T (n.1315A>T) c.123A>T (p.Pro41=) c.696A>T (p.Pro232=) c.1374A>T (p.Pro458=) c.1497A>T (p.Pro499=) c.771A>T (p.Pro257=) c.1377A>T (p.Pro459=) n.2423+2717T>A n.1736A>T | |
| 10 | g.18539352_18539355delinsACAC | CA1894173165 | CACNB2,NSUN6 | c.1467_1470delinsACAC (p.Pro489=) c.1332_1335delinsACAC (p.Pro444=) c.1455_1458delinsACAC (p.Pro485=) c.1527_1530delinsACAC (p.Pro509=) c.1611_1614delinsACAC (p.Pro537=) c.1449_1452delinsACAC (p.Pro483=) c.1236_1239delinsACAC (p.Pro412=) c.1413_1416delinsACAC (p.Pro471=) c.*752_*755delinsACAC (n.*752_*755delinsACAC) c.1353_1356delinsACAC (p.Pro451=) c.*885_*888delinsACAC (n.*885_*888delinsACAC) c.1168_1171delinsACAC (n.1168_1171delinsACAC) c.*850_*853delinsACAC (n.*850_*853delinsACAC) c.1431_1434delinsACAC (p.Pro477=) c.*711_*714delinsACAC (n.*711_*714delinsACAC) c.1539_1542delinsACAC (p.Pro513=) c.861_864delinsACAC (p.Pro287=) c.1446_1449delinsACAC (p.Pro482=) c.1315_1318delinsACAC (n.1315_1318delinsACAC) c.123_126delinsACAC (p.Pro41=) c.696_699delinsACAC (p.Pro232=) c.1374_1377delinsACAC (p.Pro458=) c.1497_1500delinsACAC (p.Pro499=) c.771_774delinsACAC (p.Pro257=) c.1377_1380delinsACAC (p.Pro459=) n.2423+2714_2423+2717delinsGTGT n.1736_1739delinsACAC | |
| 10 | g.18539353del | CA2608435594 | CACNB2,NSUN6 | c.1468del (p.His490ThrfsTer?) c.1333del (p.His445ThrfsTer?) c.1456del (p.His486ThrfsTer?) c.1528del (p.His510ThrfsTer?) c.1612del (p.His538ThrfsTer?) c.1450del (p.His484ThrfsTer?) c.1237del (p.His413ThrfsTer?) c.1414del (p.His472ThrfsTer?) c.*753del (n.*753del) c.1354del (p.His452ThrfsTer?) c.*886del (n.*886del) c.1169del (n.1169del) c.*851del (n.*851del) c.1432del (p.His478ThrfsTer?) c.*712del (n.*712del) c.1540del (p.His514ThrfsTer?) c.862del (p.His288ThrfsTer?) c.1447del (p.His483ThrfsTer?) c.1316del (n.1316del) c.124del (p.His42ThrfsTer?) c.697del (p.His233ThrfsTer?) c.1375del (p.His459ThrfsTer?) c.1498del (p.His500ThrfsTer?) c.772del (p.His258ThrfsTer?) c.1378del (p.His460ThrfsTer?) n.2423+2716del n.1737del | gnomAD v4 |
| 10 | g.18539353C>A | CA376071485 | CACNB2,NSUN6 | c.1468C>A (p.His490Asn) c.1333C>A (p.His445Asn) c.1456C>A (p.His486Asn) c.1528C>A (p.His510Asn) c.1612C>A (p.His538Asn) c.1450C>A (p.His484Asn) c.1237C>A (p.His413Asn) c.1414C>A (p.His472Asn) c.*753C>A (n.*753C>A) c.1354C>A (p.His452Asn) c.*886C>A (n.*886C>A) c.1169C>A (n.1169C>A) c.*851C>A (n.*851C>A) c.1432C>A (p.His478Asn) c.*712C>A (n.*712C>A) c.1540C>A (p.His514Asn) c.862C>A (p.His288Asn) c.1447C>A (p.His483Asn) c.1316C>A (n.1316C>A) c.124C>A (p.His42Asn) c.697C>A (p.His233Asn) c.1375C>A (p.His459Asn) c.1498C>A (p.His500Asn) c.772C>A (p.His258Asn) c.1378C>A (p.His460Asn) n.2423+2716G>T n.1737C>A | |
| 10 | g.18539353C= | CA1894173169 | CACNB2,NSUN6 | c.1468C= (p.His490=) c.1333C= (p.His445=) c.1456C= (p.His486=) c.1528C= (p.His510=) c.1612C= (p.His538=) c.1450C= (p.His484=) c.1237C= (p.His413=) c.1414C= (p.His472=) c.*753C= (n.*753C=) c.1354C= (p.His452=) c.*886C= (n.*886C=) c.1169C= (n.1169C=) c.*851C= (n.*851C=) c.1432C= (p.His478=) c.*712C= (n.*712C=) c.1540C= (p.His514=) c.862C= (p.His288=) c.1447C= (p.His483=) c.1316C= (n.1316C=) c.124C= (p.His42=) c.697C= (p.His233=) c.1375C= (p.His459=) c.1498C= (p.His500=) c.772C= (p.His258=) c.1378C= (p.His460=) n.2423+2716G= n.1737C= | |
| 10 | g.18539353C>G | CA5430108 | CACNB2,NSUN6 | c.1468C>G (p.His490Asp) c.1333C>G (p.His445Asp) c.1456C>G (p.His486Asp) c.1528C>G (p.His510Asp) c.1612C>G (p.His538Asp) c.1450C>G (p.His484Asp) c.1237C>G (p.His413Asp) c.1414C>G (p.His472Asp) c.*753C>G (n.*753C>G) c.1354C>G (p.His452Asp) c.*886C>G (n.*886C>G) c.1169C>G (n.1169C>G) c.*851C>G (n.*851C>G) c.1432C>G (p.His478Asp) c.*712C>G (n.*712C>G) c.1540C>G (p.His514Asp) c.862C>G (p.His288Asp) c.1447C>G (p.His483Asp) c.1316C>G (n.1316C>G) c.124C>G (p.His42Asp) c.697C>G (p.His233Asp) c.1375C>G (p.His459Asp) c.1498C>G (p.His500Asp) c.772C>G (p.His258Asp) c.1378C>G (p.His460Asp) n.2423+2716G>C n.1737C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.18539353C>T | CA376071487 | CACNB2,NSUN6 | c.1468C>T (p.His490Tyr) c.1333C>T (p.His445Tyr) c.1456C>T (p.His486Tyr) c.1528C>T (p.His510Tyr) c.1612C>T (p.His538Tyr) c.1450C>T (p.His484Tyr) c.1237C>T (p.His413Tyr) c.1414C>T (p.His472Tyr) c.*753C>T (n.*753C>T) c.1354C>T (p.His452Tyr) c.*886C>T (n.*886C>T) c.1169C>T (n.1169C>T) c.*851C>T (n.*851C>T) c.1432C>T (p.His478Tyr) c.*712C>T (n.*712C>T) c.1540C>T (p.His514Tyr) c.862C>T (p.His288Tyr) c.1447C>T (p.His483Tyr) c.1316C>T (n.1316C>T) c.124C>T (p.His42Tyr) c.697C>T (p.His233Tyr) c.1375C>T (p.His459Tyr) c.1498C>T (p.His500Tyr) c.772C>T (p.His258Tyr) c.1378C>T (p.His460Tyr) n.2423+2716G>A n.1737C>T | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.18539356_18539358del | CA5430107 | CACNB2,NSUN6 | c.1471_1473del (p.His491del) c.1336_1338del (p.His446del) c.1459_1461del (p.His487del) c.1531_1533del (p.His511del) c.1615_1617del (p.His539del) c.1453_1455del (p.His485del) c.1240_1242del (p.His414del) c.1417_1419del (p.His473del) c.*756_*758del (n.*756_*758del) c.1357_1359del (p.His453del) c.*889_*891del (n.*889_*891del) c.1172_1174del (n.1172_1174del) c.*854_*856del (n.*854_*856del) c.1435_1437del (p.His479del) c.*715_*717del (n.*715_*717del) c.1543_1545del (p.His515del) c.865_867del (p.His289del) c.1450_1452del (p.His484del) c.1319_1321del (n.1319_1321del) c.127_129del (p.His43del) c.700_702del (p.His234del) c.1378_1380del (p.His460del) c.1501_1503del (p.His501del) c.775_777del (p.His259del) c.1381_1383del (p.His461del) n.2423+2714_2423+2716del n.1740_1742del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.18539354A= | CA1894173179 | CACNB2,NSUN6 | c.1469A= (p.His490=) c.1334A= (p.His445=) c.1457A= (p.His486=) c.1529A= (p.His510=) c.1613A= (p.His538=) c.1451A= (p.His484=) c.1238A= (p.His413=) c.1415A= (p.His472=) c.*754A= (n.*754A=) c.1355A= (p.His452=) c.*887A= (n.*887A=) c.1170A= (n.1170A=) c.*852A= (n.*852A=) c.1433A= (p.His478=) c.*713A= (n.*713A=) c.1541A= (p.His514=) c.863A= (p.His288=) c.1448A= (p.His483=) c.1317A= (n.1317A=) c.125A= (p.His42=) c.698A= (p.His233=) c.1376A= (p.His459=) c.1499A= (p.His500=) c.773A= (p.His258=) c.1379A= (p.His460=) n.2423+2715T= n.1738A= | |
| 10 | g.18539354A>C | CA376071490 | CACNB2,NSUN6 | c.1469A>C (p.His490Pro) c.1334A>C (p.His445Pro) c.1457A>C (p.His486Pro) c.1529A>C (p.His510Pro) c.1613A>C (p.His538Pro) c.1451A>C (p.His484Pro) c.1238A>C (p.His413Pro) c.1415A>C (p.His472Pro) c.*754A>C (n.*754A>C) c.1355A>C (p.His452Pro) c.*887A>C (n.*887A>C) c.1170A>C (n.1170A>C) c.*852A>C (n.*852A>C) c.1433A>C (p.His478Pro) c.*713A>C (n.*713A>C) c.1541A>C (p.His514Pro) c.863A>C (p.His288Pro) c.1448A>C (p.His483Pro) c.1317A>C (n.1317A>C) c.125A>C (p.His42Pro) c.698A>C (p.His233Pro) c.1376A>C (p.His459Pro) c.1499A>C (p.His500Pro) c.773A>C (p.His258Pro) c.1379A>C (p.His460Pro) n.2423+2715T>G n.1738A>C | |
| 10 | g.18539354A>G | CA5430109 | CACNB2,NSUN6 | c.1469A>G (p.His490Arg) c.1334A>G (p.His445Arg) c.1457A>G (p.His486Arg) c.1529A>G (p.His510Arg) c.1613A>G (p.His538Arg) c.1451A>G (p.His484Arg) c.1238A>G (p.His413Arg) c.1415A>G (p.His472Arg) c.*754A>G (n.*754A>G) c.1355A>G (p.His452Arg) c.*887A>G (n.*887A>G) c.1170A>G (n.1170A>G) c.*852A>G (n.*852A>G) c.1433A>G (p.His478Arg) c.*713A>G (n.*713A>G) c.1541A>G (p.His514Arg) c.863A>G (p.His288Arg) c.1448A>G (p.His483Arg) c.1317A>G (n.1317A>G) c.125A>G (p.His42Arg) c.698A>G (p.His233Arg) c.1376A>G (p.His459Arg) c.1499A>G (p.His500Arg) c.773A>G (p.His258Arg) c.1379A>G (p.His460Arg) n.2423+2715T>C n.1738A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.18539354A>T | CA376071492 | CACNB2,NSUN6 | c.1469A>T (p.His490Leu) c.1334A>T (p.His445Leu) c.1457A>T (p.His486Leu) c.1529A>T (p.His510Leu) c.1613A>T (p.His538Leu) c.1451A>T (p.His484Leu) c.1238A>T (p.His413Leu) c.1415A>T (p.His472Leu) c.*754A>T (n.*754A>T) c.1355A>T (p.His452Leu) c.*887A>T (n.*887A>T) c.1170A>T (n.1170A>T) c.*852A>T (n.*852A>T) c.1433A>T (p.His478Leu) c.*713A>T (n.*713A>T) c.1541A>T (p.His514Leu) c.863A>T (p.His288Leu) c.1448A>T (p.His483Leu) c.1317A>T (n.1317A>T) c.125A>T (p.His42Leu) c.698A>T (p.His233Leu) c.1376A>T (p.His459Leu) c.1499A>T (p.His500Leu) c.773A>T (p.His258Leu) c.1379A>T (p.His460Leu) n.2423+2715T>A n.1738A>T | |
| 10 | g.18539354dup | CA592060474 | CACNB2,NSUN6 | c.1469dup (p.His490GlnfsTer19) c.1334dup (p.His445GlnfsTer19) c.1457dup (p.His486GlnfsTer19) c.1529dup (p.His510GlnfsTer19) c.1613dup (p.His538GlnfsTer19) c.1451dup (p.His484GlnfsTer19) c.1238dup (p.His413GlnfsTer19) c.1415dup (p.His472GlnfsTer19) c.*754dup (n.*754dup) c.1355dup (p.His452GlnfsTer19) c.*887dup (n.*887dup) c.1170dup (n.1170dup) c.*852dup (n.*852dup) c.1433dup (p.His478GlnfsTer19) c.*713dup (n.*713dup) c.1541dup (p.His514GlnfsTer19) c.863dup (p.His288GlnfsTer19) c.1448dup (p.His483GlnfsTer19) c.1317dup (n.1317dup) c.125dup (p.His42GlnfsTer19) c.698dup (p.His233GlnfsTer19) c.1376dup (p.His459GlnfsTer19) c.1499dup (p.His500GlnfsTer19) c.773dup (p.His258GlnfsTer19) c.1379dup (p.His460GlnfsTer19) n.2423+2715dup n.1738dup | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.18539355C>A | CA376071494 | CACNB2,NSUN6 | c.1470C>A (p.His490Gln) c.1335C>A (p.His445Gln) c.1458C>A (p.His486Gln) c.1530C>A (p.His510Gln) c.1614C>A (p.His538Gln) c.1452C>A (p.His484Gln) c.1239C>A (p.His413Gln) c.1416C>A (p.His472Gln) c.*755C>A (n.*755C>A) c.1356C>A (p.His452Gln) c.*888C>A (n.*888C>A) c.1171C>A (n.1171C>A) c.*853C>A (n.*853C>A) c.1434C>A (p.His478Gln) c.*714C>A (n.*714C>A) c.1542C>A (p.His514Gln) c.864C>A (p.His288Gln) c.1449C>A (p.His483Gln) c.1318C>A (n.1318C>A) c.126C>A (p.His42Gln) c.699C>A (p.His233Gln) c.1377C>A (p.His459Gln) c.1500C>A (p.His500Gln) c.774C>A (p.His258Gln) c.1380C>A (p.His460Gln) n.2423+2714G>T n.1739C>A | |
| 10 | g.18539355C>G | CA376071495 | CACNB2,NSUN6 | c.1470C>G (p.His490Gln) c.1335C>G (p.His445Gln) c.1458C>G (p.His486Gln) c.1530C>G (p.His510Gln) c.1614C>G (p.His538Gln) c.1452C>G (p.His484Gln) c.1239C>G (p.His413Gln) c.1416C>G (p.His472Gln) c.*755C>G (n.*755C>G) c.1356C>G (p.His452Gln) c.*888C>G (n.*888C>G) c.1171C>G (n.1171C>G) c.*853C>G (n.*853C>G) c.1434C>G (p.His478Gln) c.*714C>G (n.*714C>G) c.1542C>G (p.His514Gln) c.864C>G (p.His288Gln) c.1449C>G (p.His483Gln) c.1318C>G (n.1318C>G) c.126C>G (p.His42Gln) c.699C>G (p.His233Gln) c.1377C>G (p.His459Gln) c.1500C>G (p.His500Gln) c.774C>G (p.His258Gln) c.1380C>G (p.His460Gln) n.2423+2714G>C n.1739C>G | |
| 10 | g.18539355C>T | CA468627771 | CACNB2,NSUN6 | c.1470C>T (p.His490=) c.1335C>T (p.His445=) c.1458C>T (p.His486=) c.1530C>T (p.His510=) c.1614C>T (p.His538=) c.1452C>T (p.His484=) c.1239C>T (p.His413=) c.1416C>T (p.His472=) c.*755C>T (n.*755C>T) c.1356C>T (p.His452=) c.*888C>T (n.*888C>T) c.1171C>T (n.1171C>T) c.*853C>T (n.*853C>T) c.1434C>T (p.His478=) c.*714C>T (n.*714C>T) c.1542C>T (p.His514=) c.864C>T (p.His288=) c.1449C>T (p.His483=) c.1318C>T (n.1318C>T) c.126C>T (p.His42=) c.699C>T (p.His233=) c.1377C>T (p.His459=) c.1500C>T (p.His500=) c.774C>T (p.His258=) c.1380C>T (p.His460=) n.2423+2714G>A n.1739C>T | gnomAD v4 |
| 10 | g.18539356_18539365dup | CA2608435595 | CACNB2,NSUN6 | c.1471_1480dup (p.Arg494ProfsTer18) c.1336_1345dup (p.Arg449ProfsTer18) c.1459_1468dup (p.Arg490ProfsTer18) c.1531_1540dup (p.Arg514ProfsTer18) c.1615_1624dup (p.Arg542ProfsTer18) c.1453_1462dup (p.Arg488ProfsTer18) c.1240_1249dup (p.Arg417ProfsTer18) c.1417_1426dup (p.Arg476ProfsTer18) c.*756_*765dup (n.*756_*765dup) c.1357_1366dup (p.Arg456ProfsTer18) c.*889_*898dup (n.*889_*898dup) c.1172_1181dup (n.1172_1181dup) c.*854_*863dup (n.*854_*863dup) c.1435_1444dup (p.Arg482ProfsTer18) c.*715_*724dup (n.*715_*724dup) c.1543_1552dup (p.Arg518ProfsTer18) c.865_874dup (p.Arg292ProfsTer18) c.1450_1459dup (p.Arg487ProfsTer18) c.1319_1328dup (n.1319_1328dup) c.127_136dup (p.Arg46ProfsTer18) c.700_709dup (p.Arg237ProfsTer18) c.1378_1387dup (p.Arg463ProfsTer18) c.1501_1510dup (p.Arg504ProfsTer18) c.775_784dup (p.Arg262ProfsTer18) c.1381_1390dup (p.Arg464ProfsTer18) n.2423+2705_2423+2714dup n.1740_1749dup | gnomAD v4 |
| 10 | g.18539356C>A | CA376071497 | CACNB2,NSUN6 | c.1471C>A (p.His491Asn) c.1336C>A (p.His446Asn) c.1459C>A (p.His487Asn) c.1531C>A (p.His511Asn) c.1615C>A (p.His539Asn) c.1453C>A (p.His485Asn) c.1240C>A (p.His414Asn) c.1417C>A (p.His473Asn) c.*756C>A (n.*756C>A) c.1357C>A (p.His453Asn) c.*889C>A (n.*889C>A) c.1172C>A (n.1172C>A) c.*854C>A (n.*854C>A) c.1435C>A (p.His479Asn) c.*715C>A (n.*715C>A) c.1543C>A (p.His515Asn) c.865C>A (p.His289Asn) c.1450C>A (p.His484Asn) c.1319C>A (n.1319C>A) c.127C>A (p.His43Asn) c.700C>A (p.His234Asn) c.1378C>A (p.His460Asn) c.1501C>A (p.His501Asn) c.775C>A (p.His259Asn) c.1381C>A (p.His461Asn) n.2423+2713G>T n.1740C>A | |
| 10 | g.18539356C>G | CA376071498 | CACNB2,NSUN6 | c.1471C>G (p.His491Asp) c.1336C>G (p.His446Asp) c.1459C>G (p.His487Asp) c.1531C>G (p.His511Asp) c.1615C>G (p.His539Asp) c.1453C>G (p.His485Asp) c.1240C>G (p.His414Asp) c.1417C>G (p.His473Asp) c.*756C>G (n.*756C>G) c.1357C>G (p.His453Asp) c.*889C>G (n.*889C>G) c.1172C>G (n.1172C>G) c.*854C>G (n.*854C>G) c.1435C>G (p.His479Asp) c.*715C>G (n.*715C>G) c.1543C>G (p.His515Asp) c.865C>G (p.His289Asp) c.1450C>G (p.His484Asp) c.1319C>G (n.1319C>G) c.127C>G (p.His43Asp) c.700C>G (p.His234Asp) c.1378C>G (p.His460Asp) c.1501C>G (p.His501Asp) c.775C>G (p.His259Asp) c.1381C>G (p.His461Asp) n.2423+2713G>C n.1740C>G | |
| 10 | g.18539356C>T | CA376071499 | CACNB2,NSUN6 | c.1471C>T (p.His491Tyr) c.1336C>T (p.His446Tyr) c.1459C>T (p.His487Tyr) c.1531C>T (p.His511Tyr) c.1615C>T (p.His539Tyr) c.1453C>T (p.His485Tyr) c.1240C>T (p.His414Tyr) c.1417C>T (p.His473Tyr) c.*756C>T (n.*756C>T) c.1357C>T (p.His453Tyr) c.*889C>T (n.*889C>T) c.1172C>T (n.1172C>T) c.*854C>T (n.*854C>T) c.1435C>T (p.His479Tyr) c.*715C>T (n.*715C>T) c.1543C>T (p.His515Tyr) c.865C>T (p.His289Tyr) c.1450C>T (p.His484Tyr) c.1319C>T (n.1319C>T) c.127C>T (p.His43Tyr) c.700C>T (p.His234Tyr) c.1378C>T (p.His460Tyr) c.1501C>T (p.His501Tyr) c.775C>T (p.His259Tyr) c.1381C>T (p.His461Tyr) n.2423+2713G>A n.1740C>T | gnomAD v4 |
| 10 | g.18539357A= | CA1894173186 | CACNB2,NSUN6 | c.1472A= (p.His491=) c.1337A= (p.His446=) c.1460A= (p.His487=) c.1532A= (p.His511=) c.1616A= (p.His539=) c.1454A= (p.His485=) c.1241A= (p.His414=) c.1418A= (p.His473=) c.*757A= (n.*757A=) c.1358A= (p.His453=) c.*890A= (n.*890A=) c.1173A= (n.1173A=) c.*855A= (n.*855A=) c.1436A= (p.His479=) c.*716A= (n.*716A=) c.1544A= (p.His515=) c.866A= (p.His289=) c.1451A= (p.His484=) c.1320A= (n.1320A=) c.128A= (p.His43=) c.701A= (p.His234=) c.1379A= (p.His460=) c.1502A= (p.His501=) c.776A= (p.His259=) c.1382A= (p.His461=) n.2423+2712T= n.1741A= |