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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38604008del | CA2586971913 | SCN5A | c.1596del (p.Arg533AlafsTer?) c.1467del (p.Arg490AlafsTer?) | gnomAD v4 |
| 3 | g.38604007A= | CA1358585006 | SCN5A | c.1595T= (p.Phe532=) c.1466T= (p.Phe489=) | |
| 3 | g.38604007A>C | CA015051 | SCN5A | c.1595T>G (p.Phe532Cys) c.1466T>G (p.Phe489Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604007A>G | CA352147273 | SCN5A | c.1595T>C (p.Phe532Ser) c.1466T>C (p.Phe489Ser) | |
| 3 | g.38604007A>T | CA352147275 | SCN5A | c.1595T>A (p.Phe532Tyr) c.1466T>A (p.Phe489Tyr) | |
| 3 | g.38604008A= | CA1358585007 | SCN5A | c.1594T= (p.Phe532=) c.1465T= (p.Phe489=) | |
| 3 | g.38604008A>C | CA352147284 | SCN5A | c.1594T>G (p.Phe532Val) c.1465T>G (p.Phe489Val) | |
| 3 | g.38604008A>G | CA058332 | SCN5A | c.1594T>C (p.Phe532Leu) c.1465T>C (p.Phe489Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604008A>T | CA352147277 | SCN5A | c.1594T>A (p.Phe532Ile) c.1465T>A (p.Phe489Ile) | |
| 3 | g.38604009G>A | CA433333226 | SCN5A | c.1593C>T (p.Thr531=) c.1464C>T (p.Thr488=) | |
| 3 | g.38604009G>C | CA433333227 | SCN5A | c.1593C>G (p.Thr531=) c.1464C>G (p.Thr488=) | |
| 3 | g.38604009G>T | CA433333229 | SCN5A | c.1593C>A (p.Thr531=) c.1464C>A (p.Thr488=) | |
| 3 | g.38604010G>A | CA058323 | SCN5A | c.1592C>T (p.Thr531Ile) c.1463C>T (p.Thr488Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604010G>C | CA352147289 | SCN5A | c.1592C>G (p.Thr531Ser) c.1463C>G (p.Thr488Ser) | |
| 3 | g.38604010G= | CA1358585008 | SCN5A | c.1592C= (p.Thr531=) c.1463C= (p.Thr488=) | |
| 3 | g.38604010G>T | CA352147292 | SCN5A | c.1592C>A (p.Thr531Asn) c.1463C>A (p.Thr488Asn) | |
| 3 | g.38604011T>A | CA352147299 | SCN5A | c.1591A>T (p.Thr531Ser) c.1462A>T (p.Thr488Ser) | |
| 3 | g.38604011T>C | CA058313 | SCN5A | c.1591A>G (p.Thr531Ala) c.1462A>G (p.Thr488Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604011T>G | CA352147304 | SCN5A | c.1591A>C (p.Thr531Pro) c.1462A>C (p.Thr488Pro) | |
| 3 | g.38604011T= | CA1358585009 | SCN5A | c.1591A= (p.Thr531=) c.1462A= (p.Thr488=) | |
| 3 | g.38604012G>A | CA058304 | SCN5A | c.1590C>T (p.Phe530=) c.1461C>T (p.Phe487=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604012G>C | CA352147305 | SCN5A | c.1590C>G (p.Phe530Leu) c.1461C>G (p.Phe487Leu) | ClinVar dbSNP |
| 3 | g.38604012G= | CA1358585010 | SCN5A | c.1590C= (p.Phe530=) c.1461C= (p.Phe487=) | |
| 3 | g.38604012G>T | CA352147306 | SCN5A | c.1590C>A (p.Phe530Leu) c.1461C>A (p.Phe487Leu) | gnomAD v4 |
| 3 | g.38604013A= | CA1358585011 | SCN5A | c.1589T= (p.Phe530=) c.1460T= (p.Phe487=) | |
| 3 | g.38604013A>C | CA352147308 | SCN5A | c.1589T>G (p.Phe530Cys) c.1460T>G (p.Phe487Cys) | |
| 3 | g.38604013A>G | CA058282 | SCN5A | c.1589T>C (p.Phe530Ser) c.1460T>C (p.Phe487Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604013A>T | CA352147317 | SCN5A | c.1589T>A (p.Phe530Tyr) c.1460T>A (p.Phe487Tyr) | |
| 3 | g.38604016dup | CA2840078127 | SCN5A | c.1589dup (p.Thr531HisfsTer10) c.1460dup (p.Thr488HisfsTer10) | |
| 3 | g.38604016del | CA2573136267 | SCN5A | c.1589del (p.Phe530SerfsTer?) c.1460del (p.Phe487SerfsTer?) | ClinVar dbSNP |
| 3 | g.38604014A= | CA1358585012 | SCN5A | c.1588T= (p.Phe530=) c.1459T= (p.Phe487=) | |
| 3 | g.38604014A>C | CA015032 | SCN5A | c.1588T>G (p.Phe530Val) c.1459T>G (p.Phe487Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604014A>G | CA352147320 | SCN5A | c.1588T>C (p.Phe530Leu) c.1459T>C (p.Phe487Leu) | |
| 3 | g.38604014A>T | CA352147323 | SCN5A | c.1588T>A (p.Phe530Ile) c.1459T>A (p.Phe487Ile) | |
| 3 | g.38604015A= | CA1358585013 | SCN5A | c.1587T= (p.Ile529=) c.1458T= (p.Ile486=) | |
| 3 | g.38604015A>C | CA352147325 | SCN5A | c.1587T>G (p.Ile529Met) c.1458T>G (p.Ile486Met) | |
| 3 | g.38604015A>G | CA015024 | SCN5A | c.1587T>C (p.Ile529=) c.1458T>C (p.Ile486=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604015A>T | CA433333244 | SCN5A | c.1587T>A (p.Ile529=) c.1458T>A (p.Ile486=) | |
| 3 | g.38604016A>C | CA352147329 | SCN5A | c.1586T>G (p.Ile529Ser) c.1457T>G (p.Ile486Ser) | gnomAD v4 |
| 3 | g.38604016A>G | CA352147331 | SCN5A | c.1586T>C (p.Ile529Thr) c.1457T>C (p.Ile486Thr) | |
| 3 | g.38604016A>T | CA352147334 | SCN5A | c.1586T>A (p.Ile529Asn) c.1457T>A (p.Ile486Asn) | |
| 3 | g.38604017T>A | CA352147339 | SCN5A | c.1585A>T (p.Ile529Phe) c.1456A>T (p.Ile486Phe) | |
| 3 | g.38604017T>C | CA352147341 | SCN5A | c.1585A>G (p.Ile529Val) c.1456A>G (p.Ile486Val) | |
| 3 | g.38604017T>G | CA352147342 | SCN5A | c.1585A>C (p.Ile529Leu) c.1456A>C (p.Ile486Leu) | |
| 3 | g.38604017_38604019delinsTGC | CA1358585014 | SCN5A | c.1583_1585delinsGCA (p.Ser528=) c.1454_1456delinsGCA (p.Ser485=) | |
| 3 | g.38604018G>A | CA433333250 | SCN5A | c.1584C>T (p.Ser528=) c.1455C>T (p.Ser485=) | |
| 3 | g.38604018G>C | CA352147346 | SCN5A | c.1584C>G (p.Ser528Arg) c.1455C>G (p.Ser485Arg) | ClinVar |
| 3 | g.38604018G= | CA1358585015 | SCN5A | c.1584C= (p.Ser528=) c.1455C= (p.Ser485=) | |
| 3 | g.38604018G>T | CA015016 | SCN5A | c.1584C>A (p.Ser528Arg) c.1455C>A (p.Ser485Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604018_38604019del | CA015010 | SCN5A | c.1583_1584del (p.Ser528AsnfsTer12) c.1454_1455del (p.Ser485AsnfsTer12) | ClinVar dbSNP |