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 |
|---|---|---|---|---|---|
| 7 | g.50461751C>A | CA2580742092 | DDC,FIGNL1 | c.*18+1462G>T (n.*18+1462G>T) c.1103+1462G>T c.*562+1462G>T (n.*562+1462G>T) n.617+1462G>T c.-10-14454G>T (n.-10-14454G>T) | |
| 7 | g.50461751C= | CA1706615787 | DDC,FIGNL1 | c.*18+1462G= (n.*18+1462G=) c.1103+1462G= c.*562+1462G= (n.*562+1462G=) n.617+1462G= c.-10-14454G= (n.-10-14454G=) | |
| 7 | g.50461751C>G | CA158220626 | DDC,FIGNL1 | c.*18+1462G>C (n.*18+1462G>C) c.1103+1462G>C c.*562+1462G>C (n.*562+1462G>C) n.617+1462G>C c.-10-14454G>C (n.-10-14454G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50461751C>T | CA2580742091 | DDC,FIGNL1 | c.*18+1462G>A (n.*18+1462G>A) c.1103+1462G>A c.*562+1462G>A (n.*562+1462G>A) n.617+1462G>A c.-10-14454G>A (n.-10-14454G>A) | |
| 7 | g.50461755A= | CA1706615788 | DDC,FIGNL1 | c.*18+1458T= (n.*18+1458T=) c.1103+1458T= c.*562+1458T= (n.*562+1458T=) n.617+1458T= c.-10-14458T= (n.-10-14458T=) | |
| 7 | g.50461755A>C | CA1706615789 | DDC,FIGNL1 | c.*18+1458T>G (n.*18+1458T>G) c.1103+1458T>G c.*562+1458T>G (n.*562+1458T>G) n.617+1458T>G c.-10-14458T>G (n.-10-14458T>G) | dbSNP |
| 7 | g.50461755A>T | CA1706615790 | DDC,FIGNL1 | c.*18+1458T>A (n.*18+1458T>A) c.1103+1458T>A c.*562+1458T>A (n.*562+1458T>A) n.617+1458T>A c.-10-14458T>A (n.-10-14458T>A) | dbSNP |
| 7 | g.50461757C= | CA1706615791 | DDC,FIGNL1 | c.*18+1456G= (n.*18+1456G=) c.1103+1456G= c.*562+1456G= (n.*562+1456G=) n.617+1456G= c.-10-14460G= (n.-10-14460G=) | |
| 7 | g.50461757C>T | CA158220629 | DDC,FIGNL1 | c.*18+1456G>A (n.*18+1456G>A) c.1103+1456G>A c.*562+1456G>A (n.*562+1456G>A) n.617+1456G>A c.-10-14460G>A (n.-10-14460G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50461760A= | CA1706615792 | DDC,FIGNL1 | c.*18+1453T= (n.*18+1453T=) c.1103+1453T= c.*562+1453T= (n.*562+1453T=) n.617+1453T= c.-10-14463T= (n.-10-14463T=) | |
| 7 | g.50461760A>T | CA574296410 | DDC,FIGNL1 | c.*18+1453T>A (n.*18+1453T>A) c.1103+1453T>A c.*562+1453T>A (n.*562+1453T>A) n.617+1453T>A c.-10-14463T>A (n.-10-14463T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50461761T>C | CA1101209435 | DDC,FIGNL1 | c.*18+1452A>G (n.*18+1452A>G) c.1103+1452A>G c.*562+1452A>G (n.*562+1452A>G) n.617+1452A>G c.-10-14464A>G (n.-10-14464A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50461761T= | CA1706615793 | DDC,FIGNL1 | c.*18+1452A= (n.*18+1452A=) c.1103+1452A= c.*562+1452A= (n.*562+1452A=) n.617+1452A= c.-10-14464A= (n.-10-14464A=) | |
| 7 | g.50461761_50461764delinsTAAG | CA1706615794 | DDC,FIGNL1 | c.*18+1449_*18+1452delinsCTTA (n.*18+1449_*18+1452delinsCTTA) c.1103+1449_1103+1452delinsCTTA c.*562+1449_*562+1452delinsCTTA (n.*562+1449_*562+1452delinsCTTA) n.617+1449_617+1452delinsCTTA c.-10-14467_-10-14464delinsCTTA (n.-10-14467_-10-14464delinsCTTA) | |
| 7 | g.50461762A= | CA1706615795 | DDC,FIGNL1 | c.*18+1451T= (n.*18+1451T=) c.1103+1451T= c.*562+1451T= (n.*562+1451T=) n.617+1451T= c.-10-14465T= (n.-10-14465T=) | |
| 7 | g.50461762A>T | CA1706615796 | DDC,FIGNL1 | c.*18+1451T>A (n.*18+1451T>A) c.1103+1451T>A c.*562+1451T>A (n.*562+1451T>A) n.617+1451T>A c.-10-14465T>A (n.-10-14465T>A) | dbSNP |
| 7 | g.50461762_50461764del | CA839351853 | DDC,FIGNL1 | c.*18+1449_*18+1451del (n.*18+1449_*18+1451del) c.1103+1449_1103+1451del c.*562+1449_*562+1451del (n.*562+1449_*562+1451del) n.617+1449_617+1451del c.-10-14467_-10-14465del (n.-10-14467_-10-14465del) | dbSNP |
| 7 | g.50461765C= | CA1706615797 | DDC,FIGNL1 | c.*18+1448G= (n.*18+1448G=) c.1103+1448G= c.*562+1448G= (n.*562+1448G=) n.617+1448G= c.-10-14468G= (n.-10-14468G=) | |
| 7 | g.50461765C>T | CA1101209440 | DDC,FIGNL1 | c.*18+1448G>A (n.*18+1448G>A) c.1103+1448G>A c.*562+1448G>A (n.*562+1448G>A) n.617+1448G>A c.-10-14468G>A (n.-10-14468G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50461766_50461767insACAGTTTCGTCGAAATCCATATCGCTAGAATCTACTACTACTGCATCGTCGACACATACTAGAGGAGATTCCTCTCGATTCTTATCCATTTCATCGCGACTTTCAACATTCTTTTTAATTTCATCTAAAG | CA2538514844 | DDC,FIGNL1 | c.*18+1446_*18+1447insCTTTAGATGAAATTAAAAAGAATGTTGAAAGTCGCGATGAAATGGATAAGAATCGAGAGGAATCTCCTCTAGTATGTGTCGACGATGCAGTAGTAGTAGATTCTAGCGATATGGATTTCGACGAAACTGT (n.*18+1446_*18+1447insCTTTAGATGAAATTAAAAAGAATGTTGAAAGTCGCGATGAAATGGATAAGAATCGAGAGGAATCTCCTCTAGTATGTGTCGACGATGCAGTAGTAGTAGATTCTAGCGATATGGATTTCGACGAAACTGT) c.1103+1446_1103+1447insCTTTAGATGAAATTAAAAAGAATGTTGAAAGTCGCGATGAAATGGATAAGAATCGAGAGGAATCTCCTCTAGTATGTGTCGACGATGCAGTAGTAGTAGATTCTAGCGATATGGATTTCGACGAAACTGT c.*562+1446_*562+1447insCTTTAGATGAAATTAAAAAGAATGTTGAAAGTCGCGATGAAATGGATAAGAATCGAGAGGAATCTCCTCTAGTATGTGTCGACGATGCAGTAGTAGTAGATTCTAGCGATATGGATTTCGACGAAACTGT (n.*562+1446_*562+1447insCTTTAGATGAAATTAAAAAGAATGTTGAAAGTCGCGATGAAATGGATAAGAATCGAGAGGAATCTCCTCTAGTATGTGTCGACGATGCAGTAGTAGTAGATTCTAGCGATATGGATTTCGACGAAACTGT) n.617+1446_617+1447insCTTTAGATGAAATTAAAAAGAATGTTGAAAGTCGCGATGAAATGGATAAGAATCGAGAGGAATCTCCTCTAGTATGTGTCGACGATGCAGTAGTAGTAGATTCTAGCGATATGGATTTCGACGAAACTGT c.-10-14470_-10-14469insCTTTAGATGAAATTAAAAAGAATGTTGAAAGTCGCGATGAAATGGATAAGAATCGAGAGGAATCTCCTCTAGTATGTGTCGACGATGCAGTAGTAGTAGATTCTAGCGATATGGATTTCGACGAAACTGT (n.-10-14470_-10-14469insCTTTAGATGAAATTAAAAAGAATGTTGAAAGTCGCGATGAAATGGATAAGAATCGAGAGGAATCTCCTCTAGTATGTGTCGACGATGCAGTAGTAGTAGATTCTAGCGATATGGATTTCGACGAAACTGT) | |
| 7 | g.50461767T>C | CA1706615799 | DDC,FIGNL1 | c.*18+1446A>G (n.*18+1446A>G) c.1103+1446A>G c.*562+1446A>G (n.*562+1446A>G) n.617+1446A>G c.-10-14470A>G (n.-10-14470A>G) | dbSNP |
| 7 | g.50461767T>G | CA2714258797 | DDC,FIGNL1 | c.*18+1446A>C (n.*18+1446A>C) c.1103+1446A>C c.*562+1446A>C (n.*562+1446A>C) n.617+1446A>C c.-10-14470A>C (n.-10-14470A>C) | dbSNP |
| 7 | g.50461767T= | CA1706615798 | DDC,FIGNL1 | c.*18+1446A= (n.*18+1446A=) c.1103+1446A= c.*562+1446A= (n.*562+1446A=) n.617+1446A= c.-10-14470A= (n.-10-14470A=) | |
| 7 | g.50461768C= | CA1706615800 | DDC,FIGNL1 | c.*18+1445G= (n.*18+1445G=) c.1103+1445G= c.*562+1445G= (n.*562+1445G=) n.617+1445G= c.-10-14471G= (n.-10-14471G=) | |
| 7 | g.50461768C>G | CA574296412 | DDC,FIGNL1 | c.*18+1445G>C (n.*18+1445G>C) c.1103+1445G>C c.*562+1445G>C (n.*562+1445G>C) n.617+1445G>C c.-10-14471G>C (n.-10-14471G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50461769T= | CA1706615801 | DDC,FIGNL1 | c.*18+1444A= (n.*18+1444A=) c.1103+1444A= c.*562+1444A= (n.*562+1444A=) n.617+1444A= c.-10-14472A= (n.-10-14472A=) | |
| 7 | g.50461773dup | CA158220634 | DDC,FIGNL1 | c.*18+1443dup (n.*18+1443dup) c.1103+1443dup c.*562+1443dup (n.*562+1443dup) n.617+1443dup c.-10-14473dup (n.-10-14473dup) | dbSNP |
| 7 | g.50461773C>A | CA839351856 | DDC,FIGNL1 | c.*18+1440G>T (n.*18+1440G>T) c.1103+1440G>T c.*562+1440G>T (n.*562+1440G>T) n.617+1440G>T c.-10-14476G>T (n.-10-14476G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50461773C= | CA1706615802 | DDC,FIGNL1 | c.*18+1440G= (n.*18+1440G=) c.1103+1440G= c.*562+1440G= (n.*562+1440G=) n.617+1440G= c.-10-14476G= (n.-10-14476G=) | |
| 7 | g.50461773C>T | CA158220638 | DDC,FIGNL1 | c.*18+1440G>A (n.*18+1440G>A) c.1103+1440G>A c.*562+1440G>A (n.*562+1440G>A) n.617+1440G>A c.-10-14476G>A (n.-10-14476G>A) | dbSNP |
| 7 | g.50461774A= | CA1706615803 | DDC,FIGNL1 | c.*18+1439T= (n.*18+1439T=) c.1103+1439T= c.*562+1439T= (n.*562+1439T=) n.617+1439T= c.-10-14477T= (n.-10-14477T=) | |
| 7 | g.50461774A>G | CA574296415 | DDC,FIGNL1 | c.*18+1439T>C (n.*18+1439T>C) c.1103+1439T>C c.*562+1439T>C (n.*562+1439T>C) n.617+1439T>C c.-10-14477T>C (n.-10-14477T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50461778C= | CA1706615804 | DDC,FIGNL1 | c.*18+1435G= (n.*18+1435G=) c.1103+1435G= c.*562+1435G= (n.*562+1435G=) n.617+1435G= c.-10-14481G= (n.-10-14481G=) | |
| 7 | g.50461778C>T | CA1706615805 | DDC,FIGNL1 | c.*18+1435G>A (n.*18+1435G>A) c.1103+1435G>A c.*562+1435G>A (n.*562+1435G>A) n.617+1435G>A c.-10-14481G>A (n.-10-14481G>A) | dbSNP |
| 7 | g.50461782C= | CA1706615806 | DDC,FIGNL1 | c.*18+1431G= (n.*18+1431G=) c.1103+1431G= c.*562+1431G= (n.*562+1431G=) n.617+1431G= c.-10-14485G= (n.-10-14485G=) | |
| 7 | g.50461782C>G | CA2714258798 | DDC,FIGNL1 | c.*18+1431G>C (n.*18+1431G>C) c.1103+1431G>C c.*562+1431G>C (n.*562+1431G>C) n.617+1431G>C c.-10-14485G>C (n.-10-14485G>C) | dbSNP |
| 7 | g.50461782C>T | CA1706615807 | DDC,FIGNL1 | c.*18+1431G>A (n.*18+1431G>A) c.1103+1431G>A c.*562+1431G>A (n.*562+1431G>A) n.617+1431G>A c.-10-14485G>A (n.-10-14485G>A) | dbSNP |
| 7 | g.50461787G>A | CA839351862 | DDC,FIGNL1 | c.*18+1426C>T (n.*18+1426C>T) c.1103+1426C>T c.*562+1426C>T (n.*562+1426C>T) n.617+1426C>T c.-10-14490C>T (n.-10-14490C>T) | dbSNP |
| 7 | g.50461787G>C | CA915465357 | DDC,FIGNL1 | c.*18+1426C>G (n.*18+1426C>G) c.1103+1426C>G c.*562+1426C>G (n.*562+1426C>G) n.617+1426C>G c.-10-14490C>G (n.-10-14490C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50461787G= | CA1706615808 | DDC,FIGNL1 | c.*18+1426C= (n.*18+1426C=) c.1103+1426C= c.*562+1426C= (n.*562+1426C=) n.617+1426C= c.-10-14490C= (n.-10-14490C=) | |
| 7 | g.50461790G>A | CA1706615810 | DDC,FIGNL1 | c.*18+1423C>T (n.*18+1423C>T) c.1103+1423C>T c.*562+1423C>T (n.*562+1423C>T) n.617+1423C>T c.-10-14493C>T (n.-10-14493C>T) | dbSNP |
| 7 | g.50461790G= | CA1706615809 | DDC,FIGNL1 | c.*18+1423C= (n.*18+1423C=) c.1103+1423C= c.*562+1423C= (n.*562+1423C=) n.617+1423C= c.-10-14493C= (n.-10-14493C=) | |
| 7 | g.50461791C= | CA1706615811 | DDC,FIGNL1 | c.*18+1422G= (n.*18+1422G=) c.1103+1422G= c.*562+1422G= (n.*562+1422G=) n.617+1422G= c.-10-14494G= (n.-10-14494G=) | |
| 7 | g.50461791C>G | CA158220644 | DDC,FIGNL1 | c.*18+1422G>C (n.*18+1422G>C) c.1103+1422G>C c.*562+1422G>C (n.*562+1422G>C) n.617+1422G>C c.-10-14494G>C (n.-10-14494G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50461793T>A | CA839351869 | DDC,FIGNL1 | c.*18+1420A>T (n.*18+1420A>T) c.1103+1420A>T c.*562+1420A>T (n.*562+1420A>T) n.617+1420A>T c.-10-14496A>T (n.-10-14496A>T) | dbSNP |
| 7 | g.50461793T>G | CA1101209449 | DDC,FIGNL1 | c.*18+1420A>C (n.*18+1420A>C) c.1103+1420A>C c.*562+1420A>C (n.*562+1420A>C) n.617+1420A>C c.-10-14496A>C (n.-10-14496A>C) | gnomAD v3 gnomAD v4 |
| 7 | g.50461793T= | CA1706615812 | DDC,FIGNL1 | c.*18+1420A= (n.*18+1420A=) c.1103+1420A= c.*562+1420A= (n.*562+1420A=) n.617+1420A= c.-10-14496A= (n.-10-14496A=) | |
| 7 | g.50461799A= | CA1706615813 | DDC,FIGNL1 | c.*18+1414T= (n.*18+1414T=) c.1103+1414T= c.*562+1414T= (n.*562+1414T=) n.617+1414T= c.-10-14502T= (n.-10-14502T=) | |
| 7 | g.50461799A>G | CA158220647 | DDC,FIGNL1 | c.*18+1414T>C (n.*18+1414T>C) c.1103+1414T>C c.*562+1414T>C (n.*562+1414T>C) n.617+1414T>C c.-10-14502T>C (n.-10-14502T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50461801C>A | CA1706615815 | DDC,FIGNL1 | c.*18+1412G>T (n.*18+1412G>T) c.1103+1412G>T c.*562+1412G>T (n.*562+1412G>T) n.617+1412G>T c.-10-14504G>T (n.-10-14504G>T) | dbSNP |