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.18539245C>A | CA376071113 | CACNB2,NSUN6 | c.1360C>A (p.Gln454Lys) c.1225C>A (p.Gln409Lys) c.1348C>A (p.Gln450Lys) c.1420C>A (p.Gln474Lys) c.1504C>A (p.Gln502Lys) c.1342C>A (p.Gln448Lys) c.1129C>A (p.Gln377Lys) c.1306C>A (p.Gln436Lys) c.*645C>A (n.*645C>A) c.1246C>A (p.Gln416Lys) c.*778C>A (n.*778C>A) c.1061C>A (n.1061C>A) c.*743C>A (n.*743C>A) c.1324C>A (p.Gln442Lys) c.*604C>A (n.*604C>A) c.1432C>A (p.Gln478Lys) c.754C>A (p.Gln252Lys) c.1339C>A (p.Gln447Lys) c.1208C>A (n.1208C>A) c.35-19C>A (n.35-19C>A) c.589C>A (p.Gln197Lys) c.1267C>A (p.Gln423Lys) c.1390C>A (p.Gln464Lys) c.664C>A (p.Gln222Lys) c.1270C>A (p.Gln424Lys) n.21G>T n.2423+2824G>T n.1629C>A | |
| 10 | g.18539245C= | CA1894172693 | CACNB2,NSUN6 | c.1360C= (p.Gln454=) c.1225C= (p.Gln409=) c.1348C= (p.Gln450=) c.1420C= (p.Gln474=) c.1504C= (p.Gln502=) c.1342C= (p.Gln448=) c.1129C= (p.Gln377=) c.1306C= (p.Gln436=) c.*645C= (n.*645C=) c.1246C= (p.Gln416=) c.*778C= (n.*778C=) c.1061C= (n.1061C=) c.*743C= (n.*743C=) c.1324C= (p.Gln442=) c.*604C= (n.*604C=) c.1432C= (p.Gln478=) c.754C= (p.Gln252=) c.1339C= (p.Gln447=) c.1208C= (n.1208C=) c.35-19C= (n.35-19C=) c.589C= (p.Gln197=) c.1267C= (p.Gln423=) c.1390C= (p.Gln464=) c.664C= (p.Gln222=) c.1270C= (p.Gln424=) n.21G= n.2423+2824G= n.1629C= | |
| 10 | g.18539245C>G | CA376071110 | CACNB2,NSUN6 | c.1360C>G (p.Gln454Glu) c.1225C>G (p.Gln409Glu) c.1348C>G (p.Gln450Glu) c.1420C>G (p.Gln474Glu) c.1504C>G (p.Gln502Glu) c.1342C>G (p.Gln448Glu) c.1129C>G (p.Gln377Glu) c.1306C>G (p.Gln436Glu) c.*645C>G (n.*645C>G) c.1246C>G (p.Gln416Glu) c.*778C>G (n.*778C>G) c.1061C>G (n.1061C>G) c.*743C>G (n.*743C>G) c.1324C>G (p.Gln442Glu) c.*604C>G (n.*604C>G) c.1432C>G (p.Gln478Glu) c.754C>G (p.Gln252Glu) c.1339C>G (p.Gln447Glu) c.1208C>G (n.1208C>G) c.35-19C>G (n.35-19C>G) c.589C>G (p.Gln197Glu) c.1267C>G (p.Gln423Glu) c.1390C>G (p.Gln464Glu) c.664C>G (p.Gln222Glu) c.1270C>G (p.Gln424Glu) n.21G>C n.2423+2824G>C n.1629C>G | |
| 10 | g.18539245C>T | CA376071112 | CACNB2,NSUN6 | c.1360C>T (p.Gln454Ter) c.1225C>T (p.Gln409Ter) c.1348C>T (p.Gln450Ter) c.1420C>T (p.Gln474Ter) c.1504C>T (p.Gln502Ter) c.1342C>T (p.Gln448Ter) c.1129C>T (p.Gln377Ter) c.1306C>T (p.Gln436Ter) c.*645C>T (n.*645C>T) c.1246C>T (p.Gln416Ter) c.*778C>T (n.*778C>T) c.1061C>T (n.1061C>T) c.*743C>T (n.*743C>T) c.1324C>T (p.Gln442Ter) c.*604C>T (n.*604C>T) c.1432C>T (p.Gln478Ter) c.754C>T (p.Gln252Ter) c.1339C>T (p.Gln447Ter) c.1208C>T (n.1208C>T) c.35-19C>T (n.35-19C>T) c.589C>T (p.Gln197Ter) c.1267C>T (p.Gln423Ter) c.1390C>T (p.Gln464Ter) c.664C>T (p.Gln222Ter) c.1270C>T (p.Gln424Ter) n.21G>A n.2423+2824G>A n.1629C>T | dbSNP |
| 10 | g.18539246A>C | CA376071115 | CACNB2,NSUN6 | c.1361A>C (p.Gln454Pro) c.1226A>C (p.Gln409Pro) c.1349A>C (p.Gln450Pro) c.1421A>C (p.Gln474Pro) c.1505A>C (p.Gln502Pro) c.1343A>C (p.Gln448Pro) c.1130A>C (p.Gln377Pro) c.1307A>C (p.Gln436Pro) c.*646A>C (n.*646A>C) c.1247A>C (p.Gln416Pro) c.*779A>C (n.*779A>C) c.1062A>C (n.1062A>C) c.*744A>C (n.*744A>C) c.1325A>C (p.Gln442Pro) c.*605A>C (n.*605A>C) c.1433A>C (p.Gln478Pro) c.755A>C (p.Gln252Pro) c.1340A>C (p.Gln447Pro) c.1209A>C (n.1209A>C) c.35-18A>C (n.35-18A>C) c.590A>C (p.Gln197Pro) c.1268A>C (p.Gln423Pro) c.1391A>C (p.Gln464Pro) c.665A>C (p.Gln222Pro) c.1271A>C (p.Gln424Pro) n.20T>G n.2423+2823T>G n.1630A>C | |
| 10 | g.18539246A>G | CA376071116 | CACNB2,NSUN6 | c.1361A>G (p.Gln454Arg) c.1226A>G (p.Gln409Arg) c.1349A>G (p.Gln450Arg) c.1421A>G (p.Gln474Arg) c.1505A>G (p.Gln502Arg) c.1343A>G (p.Gln448Arg) c.1130A>G (p.Gln377Arg) c.1307A>G (p.Gln436Arg) c.*646A>G (n.*646A>G) c.1247A>G (p.Gln416Arg) c.*779A>G (n.*779A>G) c.1062A>G (n.1062A>G) c.*744A>G (n.*744A>G) c.1325A>G (p.Gln442Arg) c.*605A>G (n.*605A>G) c.1433A>G (p.Gln478Arg) c.755A>G (p.Gln252Arg) c.1340A>G (p.Gln447Arg) c.1209A>G (n.1209A>G) c.35-18A>G (n.35-18A>G) c.590A>G (p.Gln197Arg) c.1268A>G (p.Gln423Arg) c.1391A>G (p.Gln464Arg) c.665A>G (p.Gln222Arg) c.1271A>G (p.Gln424Arg) n.20T>C n.2423+2823T>C n.1630A>G | |
| 10 | g.18539246A>T | CA376071118 | CACNB2,NSUN6 | c.1361A>T (p.Gln454Leu) c.1226A>T (p.Gln409Leu) c.1349A>T (p.Gln450Leu) c.1421A>T (p.Gln474Leu) c.1505A>T (p.Gln502Leu) c.1343A>T (p.Gln448Leu) c.1130A>T (p.Gln377Leu) c.1307A>T (p.Gln436Leu) c.*646A>T (n.*646A>T) c.1247A>T (p.Gln416Leu) c.*779A>T (n.*779A>T) c.1062A>T (n.1062A>T) c.*744A>T (n.*744A>T) c.1325A>T (p.Gln442Leu) c.*605A>T (n.*605A>T) c.1433A>T (p.Gln478Leu) c.755A>T (p.Gln252Leu) c.1340A>T (p.Gln447Leu) c.1209A>T (n.1209A>T) c.35-18A>T (n.35-18A>T) c.590A>T (p.Gln197Leu) c.1268A>T (p.Gln423Leu) c.1391A>T (p.Gln464Leu) c.665A>T (p.Gln222Leu) c.1271A>T (p.Gln424Leu) n.20T>A n.2423+2823T>A n.1630A>T | |
| 10 | g.18539247G>A | CA468440497 | CACNB2,NSUN6 | c.1362G>A (p.Gln454=) c.1227G>A (p.Gln409=) c.1350G>A (p.Gln450=) c.1422G>A (p.Gln474=) c.1506G>A (p.Gln502=) c.1344G>A (p.Gln448=) c.1131G>A (p.Gln377=) c.1308G>A (p.Gln436=) c.*647G>A (n.*647G>A) c.1248G>A (p.Gln416=) c.*780G>A (n.*780G>A) c.1063G>A (n.1063G>A) c.*745G>A (n.*745G>A) c.1326G>A (p.Gln442=) c.*606G>A (n.*606G>A) c.1434G>A (p.Gln478=) c.756G>A (p.Gln252=) c.1341G>A (p.Gln447=) c.1210G>A (n.1210G>A) c.35-17G>A (n.35-17G>A) c.591G>A (p.Gln197=) c.1269G>A (p.Gln423=) c.1392G>A (p.Gln464=) c.666G>A (p.Gln222=) c.1272G>A (p.Gln424=) n.19C>T n.2423+2822C>T n.1631G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.18539247G>C | CA376071120 | CACNB2,NSUN6 | c.1362G>C (p.Gln454His) c.1227G>C (p.Gln409His) c.1350G>C (p.Gln450His) c.1422G>C (p.Gln474His) c.1506G>C (p.Gln502His) c.1344G>C (p.Gln448His) c.1131G>C (p.Gln377His) c.1308G>C (p.Gln436His) c.*647G>C (n.*647G>C) c.1248G>C (p.Gln416His) c.*780G>C (n.*780G>C) c.1063G>C (n.1063G>C) c.*745G>C (n.*745G>C) c.1326G>C (p.Gln442His) c.*606G>C (n.*606G>C) c.1434G>C (p.Gln478His) c.756G>C (p.Gln252His) c.1341G>C (p.Gln447His) c.1210G>C (n.1210G>C) c.35-17G>C (n.35-17G>C) c.591G>C (p.Gln197His) c.1269G>C (p.Gln423His) c.1392G>C (p.Gln464His) c.666G>C (p.Gln222His) c.1272G>C (p.Gln424His) n.19C>G n.2423+2822C>G n.1631G>C | |
| 10 | g.18539247G= | CA1894172698 | CACNB2,NSUN6 | c.1362G= (p.Gln454=) c.1227G= (p.Gln409=) c.1350G= (p.Gln450=) c.1422G= (p.Gln474=) c.1506G= (p.Gln502=) c.1344G= (p.Gln448=) c.1131G= (p.Gln377=) c.1308G= (p.Gln436=) c.*647G= (n.*647G=) c.1248G= (p.Gln416=) c.*780G= (n.*780G=) c.1063G= (n.1063G=) c.*745G= (n.*745G=) c.1326G= (p.Gln442=) c.*606G= (n.*606G=) c.1434G= (p.Gln478=) c.756G= (p.Gln252=) c.1341G= (p.Gln447=) c.1210G= (n.1210G=) c.35-17G= (n.35-17G=) c.591G= (p.Gln197=) c.1269G= (p.Gln423=) c.1392G= (p.Gln464=) c.666G= (p.Gln222=) c.1272G= (p.Gln424=) n.19C= n.2423+2822C= n.1631G= | |
| 10 | g.18539247G>T | CA376071122 | CACNB2,NSUN6 | c.1362G>T (p.Gln454His) c.1227G>T (p.Gln409His) c.1350G>T (p.Gln450His) c.1422G>T (p.Gln474His) c.1506G>T (p.Gln502His) c.1344G>T (p.Gln448His) c.1131G>T (p.Gln377His) c.1308G>T (p.Gln436His) c.*647G>T (n.*647G>T) c.1248G>T (p.Gln416His) c.*780G>T (n.*780G>T) c.1063G>T (n.1063G>T) c.*745G>T (n.*745G>T) c.1326G>T (p.Gln442His) c.*606G>T (n.*606G>T) c.1434G>T (p.Gln478His) c.756G>T (p.Gln252His) c.1341G>T (p.Gln447His) c.1210G>T (n.1210G>T) c.35-17G>T (n.35-17G>T) c.591G>T (p.Gln197His) c.1269G>T (p.Gln423His) c.1392G>T (p.Gln464His) c.666G>T (p.Gln222His) c.1272G>T (p.Gln424His) n.19C>A n.2423+2822C>A n.1631G>T | |
| 10 | g.18539248A= | CA1894172702 | CACNB2,NSUN6 | c.1363A= (p.Arg455=) c.1228A= (p.Arg410=) c.1351A= (p.Arg451=) c.1423A= (p.Arg475=) c.1507A= (p.Arg503=) c.1345A= (p.Arg449=) c.1132A= (p.Arg378=) c.1309A= (p.Arg437=) c.*648A= (n.*648A=) c.1249A= (p.Arg417=) c.*781A= (n.*781A=) c.1064A= (n.1064A=) c.*746A= (n.*746A=) c.1327A= (p.Arg443=) c.*607A= (n.*607A=) c.1435A= (p.Arg479=) c.757A= (p.Arg253=) c.1342A= (p.Arg448=) c.1211A= (n.1211A=) c.35-16A= (n.35-16A=) c.592A= (p.Arg198=) c.1270A= (p.Arg424=) c.1393A= (p.Arg465=) c.667A= (p.Arg223=) c.1273A= (p.Arg425=) n.18T= n.2423+2821T= n.1632A= | |
| 10 | g.18539248A>C | CA468440498 | CACNB2,NSUN6 | c.1363A>C (p.Arg455=) c.1228A>C (p.Arg410=) c.1351A>C (p.Arg451=) c.1423A>C (p.Arg475=) c.1507A>C (p.Arg503=) c.1345A>C (p.Arg449=) c.1132A>C (p.Arg378=) c.1309A>C (p.Arg437=) c.*648A>C (n.*648A>C) c.1249A>C (p.Arg417=) c.*781A>C (n.*781A>C) c.1064A>C (n.1064A>C) c.*746A>C (n.*746A>C) c.1327A>C (p.Arg443=) c.*607A>C (n.*607A>C) c.1435A>C (p.Arg479=) c.757A>C (p.Arg253=) c.1342A>C (p.Arg448=) c.1211A>C (n.1211A>C) c.35-16A>C (n.35-16A>C) c.592A>C (p.Arg198=) c.1270A>C (p.Arg424=) c.1393A>C (p.Arg465=) c.667A>C (p.Arg223=) c.1273A>C (p.Arg425=) n.18T>G n.2423+2821T>G n.1632A>C | |
| 10 | g.18539248A>G | CA5430078 | CACNB2,NSUN6 | c.1363A>G (p.Arg455Gly) c.1228A>G (p.Arg410Gly) c.1351A>G (p.Arg451Gly) c.1423A>G (p.Arg475Gly) c.1507A>G (p.Arg503Gly) c.1345A>G (p.Arg449Gly) c.1132A>G (p.Arg378Gly) c.1309A>G (p.Arg437Gly) c.*648A>G (n.*648A>G) c.1249A>G (p.Arg417Gly) c.*781A>G (n.*781A>G) c.1064A>G (n.1064A>G) c.*746A>G (n.*746A>G) c.1327A>G (p.Arg443Gly) c.*607A>G (n.*607A>G) c.1435A>G (p.Arg479Gly) c.757A>G (p.Arg253Gly) c.1342A>G (p.Arg448Gly) c.1211A>G (n.1211A>G) c.35-16A>G (n.35-16A>G) c.592A>G (p.Arg198Gly) c.1270A>G (p.Arg424Gly) c.1393A>G (p.Arg465Gly) c.667A>G (p.Arg223Gly) c.1273A>G (p.Arg425Gly) n.18T>C n.2423+2821T>C n.1632A>G | dbSNP ExAC |
| 10 | g.18539248A>T | CA376071124 | CACNB2,NSUN6 | c.1363A>T (p.Arg455Trp) c.1228A>T (p.Arg410Trp) c.1351A>T (p.Arg451Trp) c.1423A>T (p.Arg475Trp) c.1507A>T (p.Arg503Trp) c.1345A>T (p.Arg449Trp) c.1132A>T (p.Arg378Trp) c.1309A>T (p.Arg437Trp) c.*648A>T (n.*648A>T) c.1249A>T (p.Arg417Trp) c.*781A>T (n.*781A>T) c.1064A>T (n.1064A>T) c.*746A>T (n.*746A>T) c.1327A>T (p.Arg443Trp) c.*607A>T (n.*607A>T) c.1435A>T (p.Arg479Trp) c.757A>T (p.Arg253Trp) c.1342A>T (p.Arg448Trp) c.1211A>T (n.1211A>T) c.35-16A>T (n.35-16A>T) c.592A>T (p.Arg198Trp) c.1270A>T (p.Arg424Trp) c.1393A>T (p.Arg465Trp) c.667A>T (p.Arg223Trp) c.1273A>T (p.Arg425Trp) n.18T>A n.2423+2821T>A n.1632A>T | gnomAD v4 |
| 10 | g.18539249G>A | CA376071126 | CACNB2,NSUN6 | c.1364G>A (p.Arg455Lys) c.1229G>A (p.Arg410Lys) c.1352G>A (p.Arg451Lys) c.1424G>A (p.Arg475Lys) c.1508G>A (p.Arg503Lys) c.1346G>A (p.Arg449Lys) c.1133G>A (p.Arg378Lys) c.1310G>A (p.Arg437Lys) c.*649G>A (n.*649G>A) c.1250G>A (p.Arg417Lys) c.*782G>A (n.*782G>A) c.1065G>A (n.1065G>A) c.*747G>A (n.*747G>A) c.1328G>A (p.Arg443Lys) c.*608G>A (n.*608G>A) c.1436G>A (p.Arg479Lys) c.758G>A (p.Arg253Lys) c.1343G>A (p.Arg448Lys) c.1212G>A (n.1212G>A) c.35-15G>A (n.35-15G>A) c.593G>A (p.Arg198Lys) c.1271G>A (p.Arg424Lys) c.1394G>A (p.Arg465Lys) c.668G>A (p.Arg223Lys) c.1274G>A (p.Arg425Lys) n.17C>T n.2423+2820C>T n.1633G>A | gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 10 | g.18539249G>C | CA5430079 | CACNB2,NSUN6 | c.1364G>C (p.Arg455Thr) c.1229G>C (p.Arg410Thr) c.1352G>C (p.Arg451Thr) c.1424G>C (p.Arg475Thr) c.1508G>C (p.Arg503Thr) c.1346G>C (p.Arg449Thr) c.1133G>C (p.Arg378Thr) c.1310G>C (p.Arg437Thr) c.*649G>C (n.*649G>C) c.1250G>C (p.Arg417Thr) c.*782G>C (n.*782G>C) c.1065G>C (n.1065G>C) c.*747G>C (n.*747G>C) c.1328G>C (p.Arg443Thr) c.*608G>C (n.*608G>C) c.1436G>C (p.Arg479Thr) c.758G>C (p.Arg253Thr) c.1343G>C (p.Arg448Thr) c.1212G>C (n.1212G>C) c.35-15G>C (n.35-15G>C) c.593G>C (p.Arg198Thr) c.1271G>C (p.Arg424Thr) c.1394G>C (p.Arg465Thr) c.668G>C (p.Arg223Thr) c.1274G>C (p.Arg425Thr) n.17C>G n.2423+2820C>G n.1633G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.18539249G= | CA1894172707 | CACNB2,NSUN6 | c.1364G= (p.Arg455=) c.1229G= (p.Arg410=) c.1352G= (p.Arg451=) c.1424G= (p.Arg475=) c.1508G= (p.Arg503=) c.1346G= (p.Arg449=) c.1133G= (p.Arg378=) c.1310G= (p.Arg437=) c.*649G= (n.*649G=) c.1250G= (p.Arg417=) c.*782G= (n.*782G=) c.1065G= (n.1065G=) c.*747G= (n.*747G=) c.1328G= (p.Arg443=) c.*608G= (n.*608G=) c.1436G= (p.Arg479=) c.758G= (p.Arg253=) c.1343G= (p.Arg448=) c.1212G= (n.1212G=) c.35-15G= (n.35-15G=) c.593G= (p.Arg198=) c.1271G= (p.Arg424=) c.1394G= (p.Arg465=) c.668G= (p.Arg223=) c.1274G= (p.Arg425=) n.17C= n.2423+2820C= n.1633G= | |
| 10 | g.18539249G>T | CA376071127 | CACNB2,NSUN6 | c.1364G>T (p.Arg455Met) c.1229G>T (p.Arg410Met) c.1352G>T (p.Arg451Met) c.1424G>T (p.Arg475Met) c.1508G>T (p.Arg503Met) c.1346G>T (p.Arg449Met) c.1133G>T (p.Arg378Met) c.1310G>T (p.Arg437Met) c.*649G>T (n.*649G>T) c.1250G>T (p.Arg417Met) c.*782G>T (n.*782G>T) c.1065G>T (n.1065G>T) c.*747G>T (n.*747G>T) c.1328G>T (p.Arg443Met) c.*608G>T (n.*608G>T) c.1436G>T (p.Arg479Met) c.758G>T (p.Arg253Met) c.1343G>T (p.Arg448Met) c.1212G>T (n.1212G>T) c.35-15G>T (n.35-15G>T) c.593G>T (p.Arg198Met) c.1271G>T (p.Arg424Met) c.1394G>T (p.Arg465Met) c.668G>T (p.Arg223Met) c.1274G>T (p.Arg425Met) n.17C>A n.2423+2820C>A n.1633G>T | |
| 10 | g.18539250G>A | CA468440499 | CACNB2,NSUN6 | c.1365G>A (p.Arg455=) c.1230G>A (p.Arg410=) c.1353G>A (p.Arg451=) c.1425G>A (p.Arg475=) c.1509G>A (p.Arg503=) c.1347G>A (p.Arg449=) c.1134G>A (p.Arg378=) c.1311G>A (p.Arg437=) c.*650G>A (n.*650G>A) c.1251G>A (p.Arg417=) c.*783G>A (n.*783G>A) c.1066G>A (n.1066G>A) c.*748G>A (n.*748G>A) c.1329G>A (p.Arg443=) c.*609G>A (n.*609G>A) c.1437G>A (p.Arg479=) c.759G>A (p.Arg253=) c.1344G>A (p.Arg448=) c.1213G>A (n.1213G>A) c.35-14G>A (n.35-14G>A) c.594G>A (p.Arg198=) c.1272G>A (p.Arg424=) c.1395G>A (p.Arg465=) c.669G>A (p.Arg223=) c.1275G>A (p.Arg425=) n.16C>T n.2423+2819C>T n.1634G>A | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.18539250G>C | CA376071129 | CACNB2,NSUN6 | c.1365G>C (p.Arg455Ser) c.1230G>C (p.Arg410Ser) c.1353G>C (p.Arg451Ser) c.1425G>C (p.Arg475Ser) c.1509G>C (p.Arg503Ser) c.1347G>C (p.Arg449Ser) c.1134G>C (p.Arg378Ser) c.1311G>C (p.Arg437Ser) c.*650G>C (n.*650G>C) c.1251G>C (p.Arg417Ser) c.*783G>C (n.*783G>C) c.1066G>C (n.1066G>C) c.*748G>C (n.*748G>C) c.1329G>C (p.Arg443Ser) c.*609G>C (n.*609G>C) c.1437G>C (p.Arg479Ser) c.759G>C (p.Arg253Ser) c.1344G>C (p.Arg448Ser) c.1213G>C (n.1213G>C) c.35-14G>C (n.35-14G>C) c.594G>C (p.Arg198Ser) c.1272G>C (p.Arg424Ser) c.1395G>C (p.Arg465Ser) c.669G>C (p.Arg223Ser) c.1275G>C (p.Arg425Ser) n.16C>G n.2423+2819C>G n.1634G>C | gnomAD v4 |
| 10 | g.18539250G= | CA1894172718 | CACNB2,NSUN6 | c.1365G= (p.Arg455=) c.1230G= (p.Arg410=) c.1353G= (p.Arg451=) c.1425G= (p.Arg475=) c.1509G= (p.Arg503=) c.1347G= (p.Arg449=) c.1134G= (p.Arg378=) c.1311G= (p.Arg437=) c.*650G= (n.*650G=) c.1251G= (p.Arg417=) c.*783G= (n.*783G=) c.1066G= (n.1066G=) c.*748G= (n.*748G=) c.1329G= (p.Arg443=) c.*609G= (n.*609G=) c.1437G= (p.Arg479=) c.759G= (p.Arg253=) c.1344G= (p.Arg448=) c.1213G= (n.1213G=) c.35-14G= (n.35-14G=) c.594G= (p.Arg198=) c.1272G= (p.Arg424=) c.1395G= (p.Arg465=) c.669G= (p.Arg223=) c.1275G= (p.Arg425=) n.16C= n.2423+2819C= n.1634G= | |
| 10 | g.18539250G>T | CA5430080 | CACNB2,NSUN6 | c.1365G>T (p.Arg455Ser) c.1230G>T (p.Arg410Ser) c.1353G>T (p.Arg451Ser) c.1425G>T (p.Arg475Ser) c.1509G>T (p.Arg503Ser) c.1347G>T (p.Arg449Ser) c.1134G>T (p.Arg378Ser) c.1311G>T (p.Arg437Ser) c.*650G>T (n.*650G>T) c.1251G>T (p.Arg417Ser) c.*783G>T (n.*783G>T) c.1066G>T (n.1066G>T) c.*748G>T (n.*748G>T) c.1329G>T (p.Arg443Ser) c.*609G>T (n.*609G>T) c.1437G>T (p.Arg479Ser) c.759G>T (p.Arg253Ser) c.1344G>T (p.Arg448Ser) c.1213G>T (n.1213G>T) c.35-14G>T (n.35-14G>T) c.594G>T (p.Arg198Ser) c.1272G>T (p.Arg424Ser) c.1395G>T (p.Arg465Ser) c.669G>T (p.Arg223Ser) c.1275G>T (p.Arg425Ser) n.16C>A n.2423+2819C>A n.1634G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.18539251A>C | CA376071132 | CACNB2,NSUN6 | c.1366A>C (p.Thr456Pro) c.1231A>C (p.Thr411Pro) c.1354A>C (p.Thr452Pro) c.1426A>C (p.Thr476Pro) c.1510A>C (p.Thr504Pro) c.1348A>C (p.Thr450Pro) c.1135A>C (p.Thr379Pro) c.1312A>C (p.Thr438Pro) c.*651A>C (n.*651A>C) c.1252A>C (p.Thr418Pro) c.*784A>C (n.*784A>C) c.1067A>C (n.1067A>C) c.*749A>C (n.*749A>C) c.1330A>C (p.Thr444Pro) c.*610A>C (n.*610A>C) c.1438A>C (p.Thr480Pro) c.760A>C (p.Thr254Pro) c.1345A>C (p.Thr449Pro) c.1214A>C (n.1214A>C) c.35-13A>C (n.35-13A>C) c.595A>C (p.Thr199Pro) c.1273A>C (p.Thr425Pro) c.1396A>C (p.Thr466Pro) c.670A>C (p.Thr224Pro) c.1276A>C (p.Thr426Pro) n.15T>G n.2423+2818T>G n.1635A>C | |
| 10 | g.18539251A>G | CA376071137 | CACNB2,NSUN6 | c.1366A>G (p.Thr456Ala) c.1231A>G (p.Thr411Ala) c.1354A>G (p.Thr452Ala) c.1426A>G (p.Thr476Ala) c.1510A>G (p.Thr504Ala) c.1348A>G (p.Thr450Ala) c.1135A>G (p.Thr379Ala) c.1312A>G (p.Thr438Ala) c.*651A>G (n.*651A>G) c.1252A>G (p.Thr418Ala) c.*784A>G (n.*784A>G) c.1067A>G (n.1067A>G) c.*749A>G (n.*749A>G) c.1330A>G (p.Thr444Ala) c.*610A>G (n.*610A>G) c.1438A>G (p.Thr480Ala) c.760A>G (p.Thr254Ala) c.1345A>G (p.Thr449Ala) c.1214A>G (n.1214A>G) c.35-13A>G (n.35-13A>G) c.595A>G (p.Thr199Ala) c.1273A>G (p.Thr425Ala) c.1396A>G (p.Thr466Ala) c.670A>G (p.Thr224Ala) c.1276A>G (p.Thr426Ala) n.15T>C n.2423+2818T>C n.1635A>G | |
| 10 | g.18539251A>T | CA376071135 | CACNB2,NSUN6 | c.1366A>T (p.Thr456Ser) c.1231A>T (p.Thr411Ser) c.1354A>T (p.Thr452Ser) c.1426A>T (p.Thr476Ser) c.1510A>T (p.Thr504Ser) c.1348A>T (p.Thr450Ser) c.1135A>T (p.Thr379Ser) c.1312A>T (p.Thr438Ser) c.*651A>T (n.*651A>T) c.1252A>T (p.Thr418Ser) c.*784A>T (n.*784A>T) c.1067A>T (n.1067A>T) c.*749A>T (n.*749A>T) c.1330A>T (p.Thr444Ser) c.*610A>T (n.*610A>T) c.1438A>T (p.Thr480Ser) c.760A>T (p.Thr254Ser) c.1345A>T (p.Thr449Ser) c.1214A>T (n.1214A>T) c.35-13A>T (n.35-13A>T) c.595A>T (p.Thr199Ser) c.1273A>T (p.Thr425Ser) c.1396A>T (p.Thr466Ser) c.670A>T (p.Thr224Ser) c.1276A>T (p.Thr426Ser) n.15T>A n.2423+2818T>A n.1635A>T | |
| 10 | g.18539252_18539269del | CA2608435587 | CACNB2,NSUN6 | c.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 |
| 10 | g.18539252C>A | CA376071139 | CACNB2,NSUN6 | c.1367C>A (p.Thr456Asn) c.1232C>A (p.Thr411Asn) c.1355C>A (p.Thr452Asn) c.1427C>A (p.Thr476Asn) c.1511C>A (p.Thr504Asn) c.1349C>A (p.Thr450Asn) c.1136C>A (p.Thr379Asn) c.1313C>A (p.Thr438Asn) c.*652C>A (n.*652C>A) c.1253C>A (p.Thr418Asn) c.*785C>A (n.*785C>A) c.1068C>A (n.1068C>A) c.*750C>A (n.*750C>A) c.1331C>A (p.Thr444Asn) c.*611C>A (n.*611C>A) c.1439C>A (p.Thr480Asn) c.761C>A (p.Thr254Asn) c.1346C>A (p.Thr449Asn) c.1215C>A (n.1215C>A) c.35-12C>A (n.35-12C>A) c.596C>A (p.Thr199Asn) c.1274C>A (p.Thr425Asn) c.1397C>A (p.Thr466Asn) c.671C>A (p.Thr224Asn) c.1277C>A (p.Thr426Asn) n.14G>T n.2423+2817G>T n.1636C>A | |
| 10 | g.18539252C= | CA1894172723 | CACNB2,NSUN6 | c.1367C= (p.Thr456=) c.1232C= (p.Thr411=) c.1355C= (p.Thr452=) c.1427C= (p.Thr476=) c.1511C= (p.Thr504=) c.1349C= (p.Thr450=) c.1136C= (p.Thr379=) c.1313C= (p.Thr438=) c.*652C= (n.*652C=) c.1253C= (p.Thr418=) c.*785C= (n.*785C=) c.1068C= (n.1068C=) c.*750C= (n.*750C=) c.1331C= (p.Thr444=) c.*611C= (n.*611C=) c.1439C= (p.Thr480=) c.761C= (p.Thr254=) c.1346C= (p.Thr449=) c.1215C= (n.1215C=) c.35-12C= (n.35-12C=) c.596C= (p.Thr199=) c.1274C= (p.Thr425=) c.1397C= (p.Thr466=) c.671C= (p.Thr224=) c.1277C= (p.Thr426=) n.14G= n.2423+2817G= n.1636C= | |
| 10 | g.18539252C>G | CA376071141 | CACNB2,NSUN6 | c.1367C>G (p.Thr456Ser) c.1232C>G (p.Thr411Ser) c.1355C>G (p.Thr452Ser) c.1427C>G (p.Thr476Ser) c.1511C>G (p.Thr504Ser) c.1349C>G (p.Thr450Ser) c.1136C>G (p.Thr379Ser) c.1313C>G (p.Thr438Ser) c.*652C>G (n.*652C>G) c.1253C>G (p.Thr418Ser) c.*785C>G (n.*785C>G) c.1068C>G (n.1068C>G) c.*750C>G (n.*750C>G) c.1331C>G (p.Thr444Ser) c.*611C>G (n.*611C>G) c.1439C>G (p.Thr480Ser) c.761C>G (p.Thr254Ser) c.1346C>G (p.Thr449Ser) c.1215C>G (n.1215C>G) c.35-12C>G (n.35-12C>G) c.596C>G (p.Thr199Ser) c.1274C>G (p.Thr425Ser) c.1397C>G (p.Thr466Ser) c.671C>G (p.Thr224Ser) c.1277C>G (p.Thr426Ser) n.14G>C n.2423+2817G>C n.1636C>G | |
| 10 | g.18539252C>T | CA235677 | CACNB2,NSUN6 | c.1367C>T (p.Thr456Ile) c.1232C>T (p.Thr411Ile) c.1355C>T (p.Thr452Ile) c.1427C>T (p.Thr476Ile) c.1511C>T (p.Thr504Ile) c.1349C>T (p.Thr450Ile) c.1136C>T (p.Thr379Ile) c.1313C>T (p.Thr438Ile) c.*652C>T (n.*652C>T) c.1253C>T (p.Thr418Ile) c.*785C>T (n.*785C>T) c.1068C>T (n.1068C>T) c.*750C>T (n.*750C>T) c.1331C>T (p.Thr444Ile) c.*611C>T (n.*611C>T) c.1439C>T (p.Thr480Ile) c.761C>T (p.Thr254Ile) c.1346C>T (p.Thr449Ile) c.1215C>T (n.1215C>T) c.35-12C>T (n.35-12C>T) c.596C>T (p.Thr199Ile) c.1274C>T (p.Thr425Ile) c.1397C>T (p.Thr466Ile) c.671C>T (p.Thr224Ile) c.1277C>T (p.Thr426Ile) n.14G>A n.2423+2817G>A n.1636C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.18539253T>A | CA5430081 | CACNB2,NSUN6 | c.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 |
| 10 | g.18539253T>C | CA468440500 | CACNB2,NSUN6 | c.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 | |
| 10 | g.18539253T>G | CA468440501 | CACNB2,NSUN6 | c.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 |
| 10 | g.18539253T= | CA1894172730 | CACNB2,NSUN6 | c.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= | |
| 10 | g.18539254G>A | CA376071144 | CACNB2,NSUN6 | c.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 |
| 10 | g.18539254G>C | CA376071146 | CACNB2,NSUN6 | c.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 |
| 10 | g.18539254G= | CA1894172735 | CACNB2,NSUN6 | c.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= | |
| 10 | g.18539254G>T | CA376071147 | CACNB2,NSUN6 | c.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 | |
| 10 | g.18539255A>C | CA376071148 | CACNB2,NSUN6 | c.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 | |
| 10 | g.18539255A>G | CA376071150 | CACNB2,NSUN6 | c.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 | |
| 10 | g.18539255A>T | CA376071151 | CACNB2,NSUN6 | c.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 |
| 10 | g.18539256T>A | CA376071153 | CACNB2,NSUN6 | c.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 | |
| 10 | g.18539256T>C | CA468440502 | CACNB2,NSUN6 | c.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 |
| 10 | g.18539256T>G | CA376071155 | CACNB2,NSUN6 | c.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 | |
| 10 | g.18539257C>A | CA376071157 | CACNB2,NSUN6 | c.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 | |
| 10 | g.18539257C= | CA1894172740 | CACNB2,NSUN6 | c.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= | |
| 10 | g.18539257C>G | CA203167131 | CACNB2,NSUN6 | c.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 |
| 10 | g.18539257C>T | CA5430082 | CACNB2,NSUN6 | c.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 |
| 10 | g.18539258G>A | CA5430083 | CACNB2,NSUN6 | c.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 |