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 |
|---|---|---|---|---|---|
| 3 | g.38550302_38550348del | CA2697550799 | SCN5A | c.6026_*24del (n.[c.6026_*24del;Arg2009ThrfsTer29]) c.6029_*24del (n.[c.6029_*24del;Arg2010ThrfsTer29]) c.5975_*24del (n.[c.5975_*24del;Arg1992ThrfsTer29]) c.5867_*24del (n.[c.5867_*24del;Arg1956ThrfsTer29]) c.5930_*24del (n.[c.5930_*24del;Arg1977ThrfsTer29]) c.5900_*24del (n.[c.5900_*24del;Arg1967ThrfsTer29]) c.5972_*24del (n.[c.5972_*24del;Arg1991ThrfsTer29]) | ClinVar |
| 3 | g.38550343C>A | CA352139036 | SCN5A | c.6026G>T (p.Arg2009Met) c.6029G>T (p.Arg2010Met) c.5975G>T (p.Arg1992Met) c.5867G>T (p.Arg1956Met) c.5930G>T (p.Arg1977Met) c.5900G>T (p.Arg1967Met) c.5972G>T (p.Arg1991Met) | |
| 3 | g.38550343C>G | CA352139038 | SCN5A | c.6026G>C (p.Arg2009Thr) c.6029G>C (p.Arg2010Thr) c.5975G>C (p.Arg1992Thr) c.5867G>C (p.Arg1956Thr) c.5930G>C (p.Arg1977Thr) c.5900G>C (p.Arg1967Thr) c.5972G>C (p.Arg1991Thr) | gnomAD v4 |
| 3 | g.38550343C>T | CA352139040 | SCN5A | c.6026G>A (p.Arg2009Lys) c.6029G>A (p.Arg2010Lys) c.5975G>A (p.Arg1992Lys) c.5867G>A (p.Arg1956Lys) c.5930G>A (p.Arg1977Lys) c.5900G>A (p.Arg1967Lys) c.5972G>A (p.Arg1991Lys) | |
| 3 | g.38550344T>A | CA352139042 | SCN5A | c.6025A>T (p.Arg2009Trp) c.6028A>T (p.Arg2010Trp) c.5974A>T (p.Arg1992Trp) c.5866A>T (p.Arg1956Trp) c.5929A>T (p.Arg1977Trp) c.5899A>T (p.Arg1967Trp) c.5971A>T (p.Arg1991Trp) | |
| 3 | g.38550344T>C | CA065225 | SCN5A | c.6025A>G (p.Arg2009Gly) c.6028A>G (p.Arg2010Gly) c.5974A>G (p.Arg1992Gly) c.5866A>G (p.Arg1956Gly) c.5929A>G (p.Arg1977Gly) c.5899A>G (p.Arg1967Gly) c.5971A>G (p.Arg1991Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550344T>G | CA433134138 | SCN5A | c.6025A>C (p.Arg2009=) c.6028A>C (p.Arg2010=) c.5974A>C (p.Arg1992=) c.5866A>C (p.Arg1956=) c.5929A>C (p.Arg1977=) c.5899A>C (p.Arg1967=) c.5971A>C (p.Arg1991=) | gnomAD v4 |
| 3 | g.38550344T= | CA1358561710 | SCN5A | c.6025A= (p.Arg2009=) c.6028A= (p.Arg2010=) c.5974A= (p.Arg1992=) c.5866A= (p.Arg1956=) c.5929A= (p.Arg1977=) c.5899A= (p.Arg1967=) c.5971A= (p.Arg1991=) | |
| 3 | g.38550344_38550345insTTTTTTAAT | CA1047007107 | SCN5A | c.6025_6026insTTAAAAAAA (p.Asp2008_Arg2009insIleLysLys) c.6028_6029insTTAAAAAAA (p.Asp2009_Arg2010insIleLysLys) c.5974_5975insTTAAAAAAA (p.Asp1991_Arg1992insIleLysLys) c.5866_5867insTTAAAAAAA (p.Asp1955_Arg1956insIleLysLys) c.5929_5930insTTAAAAAAA (p.Asp1976_Arg1977insIleLysLys) c.5899_5900insTTAAAAAAA (p.Asp1966_Arg1967insIleLysLys) c.5971_5972insTTAAAAAAA (p.Asp1990_Arg1991insIleLysLys) | gnomAD v3 gnomAD v4 |
| 3 | g.38550345G>A | CA433134139 | SCN5A | c.6024C>T (p.Asp2008=) c.6027C>T (p.Asp2009=) c.5973C>T (p.Asp1991=) c.5865C>T (p.Asp1955=) c.5928C>T (p.Asp1976=) c.5898C>T (p.Asp1966=) c.5970C>T (p.Asp1990=) | |
| 3 | g.38550345G>C | CA065218 | SCN5A | c.6024C>G (p.Asp2008Glu) c.6027C>G (p.Asp2009Glu) c.5973C>G (p.Asp1991Glu) c.5865C>G (p.Asp1955Glu) c.5928C>G (p.Asp1976Glu) c.5898C>G (p.Asp1966Glu) c.5970C>G (p.Asp1990Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550345G= | CA1358561711 | SCN5A | c.6024C= (p.Asp2008=) c.6027C= (p.Asp2009=) c.5973C= (p.Asp1991=) c.5865C= (p.Asp1955=) c.5928C= (p.Asp1976=) c.5898C= (p.Asp1966=) c.5970C= (p.Asp1990=) | |
| 3 | g.38550345G>T | CA352139043 | SCN5A | c.6024C>A (p.Asp2008Glu) c.6027C>A (p.Asp2009Glu) c.5973C>A (p.Asp1991Glu) c.5865C>A (p.Asp1955Glu) c.5928C>A (p.Asp1976Glu) c.5898C>A (p.Asp1966Glu) c.5970C>A (p.Asp1990Glu) | gnomAD v4 |
| 3 | g.38550345_38550346insA | CA1047007112 | SCN5A | c.6023_6024insT (p.Arg2009GlnfsTer4) c.6026_6027insT (p.Arg2010GlnfsTer4) c.5972_5973insT (p.Arg1992GlnfsTer4) c.5864_5865insT (p.Arg1956GlnfsTer4) c.5927_5928insT (p.Arg1977GlnfsTer4) c.5897_5898insT (p.Arg1967GlnfsTer4) c.5969_5970insT (p.Arg1991GlnfsTer4) | gnomAD v3 gnomAD v4 |
| 3 | g.38550346T>A | CA352139046 | SCN5A | c.6023A>T (p.Asp2008Val) c.6026A>T (p.Asp2009Val) c.5972A>T (p.Asp1991Val) c.5864A>T (p.Asp1955Val) c.5927A>T (p.Asp1976Val) c.5897A>T (p.Asp1966Val) c.5969A>T (p.Asp1990Val) | |
| 3 | g.38550346T>C | CA352139048 | SCN5A | c.6023A>G (p.Asp2008Gly) c.6026A>G (p.Asp2009Gly) c.5972A>G (p.Asp1991Gly) c.5864A>G (p.Asp1955Gly) c.5927A>G (p.Asp1976Gly) c.5897A>G (p.Asp1966Gly) c.5969A>G (p.Asp1990Gly) | |
| 3 | g.38550346T>G | CA352139049 | SCN5A | c.6023A>C (p.Asp2008Ala) c.6026A>C (p.Asp2009Ala) c.5972A>C (p.Asp1991Ala) c.5864A>C (p.Asp1955Ala) c.5927A>C (p.Asp1976Ala) c.5897A>C (p.Asp1966Ala) c.5969A>C (p.Asp1990Ala) | |
| 3 | g.38550347C>A | CA352139052 | SCN5A | c.6022G>T (p.Asp2008Tyr) c.6025G>T (p.Asp2009Tyr) c.5971G>T (p.Asp1991Tyr) c.5863G>T (p.Asp1955Tyr) c.5926G>T (p.Asp1976Tyr) c.5896G>T (p.Asp1966Tyr) c.5968G>T (p.Asp1990Tyr) | gnomAD v3 gnomAD v4 |
| 3 | g.38550347C>G | CA352139054 | SCN5A | c.6022G>C (p.Asp2008His) c.6025G>C (p.Asp2009His) c.5971G>C (p.Asp1991His) c.5863G>C (p.Asp1955His) c.5926G>C (p.Asp1976His) c.5896G>C (p.Asp1966His) c.5968G>C (p.Asp1990His) | |
| 3 | g.38550347C>T | CA352139055 | SCN5A | c.6022G>A (p.Asp2008Asn) c.6025G>A (p.Asp2009Asn) c.5971G>A (p.Asp1991Asn) c.5863G>A (p.Asp1955Asn) c.5926G>A (p.Asp1976Asn) c.5896G>A (p.Asp1966Asn) c.5968G>A (p.Asp1990Asn) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550348C>A | CA433134142 | SCN5A | c.6021G>T (p.Pro2007=) c.6024G>T (p.Pro2008=) c.5970G>T (p.Pro1990=) c.5862G>T (p.Pro1954=) c.5925G>T (p.Pro1975=) c.5895G>T (p.Pro1965=) c.5967G>T (p.Pro1989=) | gnomAD v4 |
| 3 | g.38550348C= | CA1358561712 | SCN5A | c.6021G= (p.Pro2007=) c.6024G= (p.Pro2008=) c.5970G= (p.Pro1990=) c.5862G= (p.Pro1954=) c.5925G= (p.Pro1975=) c.5895G= (p.Pro1965=) c.5967G= (p.Pro1989=) | |
| 3 | g.38550348C>G | CA433134143 | SCN5A | c.6021G>C (p.Pro2007=) c.6024G>C (p.Pro2008=) c.5970G>C (p.Pro1990=) c.5862G>C (p.Pro1954=) c.5925G>C (p.Pro1975=) c.5895G>C (p.Pro1965=) c.5967G>C (p.Pro1989=) | ClinVar |
| 3 | g.38550348C>T | CA065213 | SCN5A | c.6021G>A (p.Pro2007=) c.6024G>A (p.Pro2008=) c.5970G>A (p.Pro1990=) c.5862G>A (p.Pro1954=) c.5925G>A (p.Pro1975=) c.5895G>A (p.Pro1965=) c.5967G>A (p.Pro1989=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550349G>A | CA065208 | SCN5A | c.6020C>T (p.Pro2007Leu) c.6023C>T (p.Pro2008Leu) c.5969C>T (p.Pro1990Leu) c.5861C>T (p.Pro1954Leu) c.5924C>T (p.Pro1975Leu) c.5894C>T (p.Pro1965Leu) c.5966C>T (p.Pro1989Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550349G>C | CA352139060 | SCN5A | c.6020C>G (p.Pro2007Arg) c.6023C>G (p.Pro2008Arg) c.5969C>G (p.Pro1990Arg) c.5861C>G (p.Pro1954Arg) c.5924C>G (p.Pro1975Arg) c.5894C>G (p.Pro1965Arg) c.5966C>G (p.Pro1989Arg) | |
| 3 | g.38550349G= | CA1358561713 | SCN5A | c.6020C= (p.Pro2007=) c.6023C= (p.Pro2008=) c.5969C= (p.Pro1990=) c.5861C= (p.Pro1954=) c.5924C= (p.Pro1975=) c.5894C= (p.Pro1965=) c.5966C= (p.Pro1989=) | |
| 3 | g.38550349G>T | CA352139061 | SCN5A | c.6020C>A (p.Pro2007Gln) c.6023C>A (p.Pro2008Gln) c.5969C>A (p.Pro1990Gln) c.5861C>A (p.Pro1954Gln) c.5924C>A (p.Pro1975Gln) c.5894C>A (p.Pro1965Gln) c.5966C>A (p.Pro1989Gln) | |
| 3 | g.38550350G>A | CA352139064 | SCN5A | c.6019C>T (p.Pro2007Ser) c.6022C>T (p.Pro2008Ser) c.5968C>T (p.Pro1990Ser) c.5860C>T (p.Pro1954Ser) c.5923C>T (p.Pro1975Ser) c.5893C>T (p.Pro1965Ser) c.5965C>T (p.Pro1989Ser) | |
| 3 | g.38550350G>C | CA352139066 | SCN5A | c.6019C>G (p.Pro2007Ala) c.6022C>G (p.Pro2008Ala) c.5968C>G (p.Pro1990Ala) c.5860C>G (p.Pro1954Ala) c.5923C>G (p.Pro1975Ala) c.5893C>G (p.Pro1965Ala) c.5965C>G (p.Pro1989Ala) | |
| 3 | g.38550350G>T | CA352139067 | SCN5A | c.6019C>A (p.Pro2007Thr) c.6022C>A (p.Pro2008Thr) c.5968C>A (p.Pro1990Thr) c.5860C>A (p.Pro1954Thr) c.5923C>A (p.Pro1975Thr) c.5893C>A (p.Pro1965Thr) c.5965C>A (p.Pro1989Thr) | |
| 3 | g.38550351A>C | CA433134145 | SCN5A | c.6018T>G (p.Ser2006=) c.6021T>G (p.Ser2007=) c.5967T>G (p.Ser1989=) c.5859T>G (p.Ser1953=) c.5922T>G (p.Ser1974=) c.5892T>G (p.Ser1964=) c.5964T>G (p.Ser1988=) | gnomAD v3 gnomAD v4 |
| 3 | g.38550351A>G | CA433134146 | SCN5A | c.6018T>C (p.Ser2006=) c.6021T>C (p.Ser2007=) c.5967T>C (p.Ser1989=) c.5859T>C (p.Ser1953=) c.5922T>C (p.Ser1974=) c.5892T>C (p.Ser1964=) c.5964T>C (p.Ser1988=) | gnomAD v4 |
| 3 | g.38550351A>T | CA433134147 | SCN5A | c.6018T>A (p.Ser2006=) c.6021T>A (p.Ser2007=) c.5967T>A (p.Ser1989=) c.5859T>A (p.Ser1953=) c.5922T>A (p.Ser1974=) c.5892T>A (p.Ser1964=) c.5964T>A (p.Ser1988=) | |
| 3 | g.38550352G>A | CA352139069 | SCN5A | c.6017C>T (p.Ser2006Phe) c.6020C>T (p.Ser2007Phe) c.5966C>T (p.Ser1989Phe) c.5858C>T (p.Ser1953Phe) c.5921C>T (p.Ser1974Phe) c.5891C>T (p.Ser1964Phe) c.5963C>T (p.Ser1988Phe) | |
| 3 | g.38550352G>C | CA352139071 | SCN5A | c.6017C>G (p.Ser2006Cys) c.6020C>G (p.Ser2007Cys) c.5966C>G (p.Ser1989Cys) c.5858C>G (p.Ser1953Cys) c.5921C>G (p.Ser1974Cys) c.5891C>G (p.Ser1964Cys) c.5963C>G (p.Ser1988Cys) | |
| 3 | g.38550352G>T | CA352139072 | SCN5A | c.6017C>A (p.Ser2006Tyr) c.6020C>A (p.Ser2007Tyr) c.5966C>A (p.Ser1989Tyr) c.5858C>A (p.Ser1953Tyr) c.5921C>A (p.Ser1974Tyr) c.5891C>A (p.Ser1964Tyr) c.5963C>A (p.Ser1988Tyr) | gnomAD v4 |
| 3 | g.38550353A>C | CA352139074 | SCN5A | c.6016T>G (p.Ser2006Ala) c.6019T>G (p.Ser2007Ala) c.5965T>G (p.Ser1989Ala) c.5857T>G (p.Ser1953Ala) c.5920T>G (p.Ser1974Ala) c.5890T>G (p.Ser1964Ala) c.5962T>G (p.Ser1988Ala) | gnomAD v4 |
| 3 | g.38550353A>G | CA352139076 | SCN5A | c.6016T>C (p.Ser2006Pro) c.6019T>C (p.Ser2007Pro) c.5965T>C (p.Ser1989Pro) c.5857T>C (p.Ser1953Pro) c.5920T>C (p.Ser1974Pro) c.5890T>C (p.Ser1964Pro) c.5962T>C (p.Ser1988Pro) | |
| 3 | g.38550353A>T | CA352139077 | SCN5A | c.6016T>A (p.Ser2006Thr) c.6019T>A (p.Ser2007Thr) c.5965T>A (p.Ser1989Thr) c.5857T>A (p.Ser1953Thr) c.5920T>A (p.Ser1974Thr) c.5890T>A (p.Ser1964Thr) c.5962T>A (p.Ser1988Thr) | gnomAD v4 |
| 3 | g.38550353_38550354insCC | CA1047007121 | SCN5A | c.6015_6016insGG (p.Ser2006GlyfsTer?) c.6018_6019insGG (p.Ser2007GlyfsTer?) c.5964_5965insGG (p.Ser1989GlyfsTer?) c.5856_5857insGG (p.Ser1953GlyfsTer?) c.5919_5920insGG (p.Ser1974GlyfsTer?) c.5889_5890insGG (p.Ser1964GlyfsTer?) c.5961_5962insGG (p.Ser1988GlyfsTer?) | gnomAD v3 gnomAD v4 |
| 3 | g.38550354A= | CA1358561715 | SCN5A | c.6015T= (p.Pro2005=) c.6018T= (p.Pro2006=) c.5964T= (p.Pro1988=) c.5856T= (p.Pro1952=) c.5919T= (p.Pro1973=) c.5889T= (p.Pro1963=) c.5961T= (p.Pro1987=) | |
| 3 | g.38550354A>C | CA433134149 | SCN5A | c.6015T>G (p.Pro2005=) c.6018T>G (p.Pro2006=) c.5964T>G (p.Pro1988=) c.5856T>G (p.Pro1952=) c.5919T>G (p.Pro1973=) c.5889T>G (p.Pro1963=) c.5961T>G (p.Pro1987=) | |
| 3 | g.38550354A>G | CA433134151 | SCN5A | c.6015T>C (p.Pro2005=) c.6018T>C (p.Pro2006=) c.5964T>C (p.Pro1988=) c.5856T>C (p.Pro1952=) c.5919T>C (p.Pro1973=) c.5889T>C (p.Pro1963=) c.5961T>C (p.Pro1987=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550354A>T | CA433134153 | SCN5A | c.6015T>A (p.Pro2005=) c.6018T>A (p.Pro2006=) c.5964T>A (p.Pro1988=) c.5856T>A (p.Pro1952=) c.5919T>A (p.Pro1973=) c.5889T>A (p.Pro1963=) c.5961T>A (p.Pro1987=) | |
| 3 | g.38550354_38550357delinsAGGG | CA1358561714 | SCN5A | c.6012_6015delinsCCCT (p.Pro2004=) c.6015_6018delinsCCCT (p.Pro2005=) c.5961_5964delinsCCCT (p.Pro1987=) c.5853_5856delinsCCCT (p.Pro1951=) c.5916_5919delinsCCCT (p.Pro1972=) c.5886_5889delinsCCCT (p.Pro1962=) c.5958_5961delinsCCCT (p.Pro1986=) | |
| 3 | g.38550355G>A | CA019607 | SCN5A | c.6014C>T (p.Pro2005Leu) c.6017C>T (p.Pro2006Leu) c.5963C>T (p.Pro1988Leu) c.5855C>T (p.Pro1952Leu) c.5918C>T (p.Pro1973Leu) c.5888C>T (p.Pro1963Leu) c.5960C>T (p.Pro1987Leu) | ClinVar dbSNP |
| 3 | g.38550355G>C | CA019601 | SCN5A | c.6014C>G (p.Pro2005Arg) c.6017C>G (p.Pro2006Arg) c.5963C>G (p.Pro1988Arg) c.5855C>G (p.Pro1952Arg) c.5918C>G (p.Pro1973Arg) c.5888C>G (p.Pro1963Arg) c.5960C>G (p.Pro1987Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550355G= | CA1358561716 | SCN5A | c.6014C= (p.Pro2005=) c.6017C= (p.Pro2006=) c.5963C= (p.Pro1988=) c.5855C= (p.Pro1952=) c.5918C= (p.Pro1973=) c.5888C= (p.Pro1963=) c.5960C= (p.Pro1987=) | |
| 3 | g.38550355G>T | CA352139080 | SCN5A | c.6014C>A (p.Pro2005His) c.6017C>A (p.Pro2006His) c.5963C>A (p.Pro1988His) c.5855C>A (p.Pro1952His) c.5918C>A (p.Pro1973His) c.5888C>A (p.Pro1963His) c.5960C>A (p.Pro1987His) | gnomAD v4 |