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.38550500G>A | CA019516 | SCN5A | c.5869C>T (p.Arg1957Ter) c.5872C>T (p.Arg1958Ter) c.5818C>T (p.Arg1940Ter) c.5710C>T (p.Arg1904Ter) c.5773C>T (p.Arg1925Ter) c.5743C>T (p.Arg1915Ter) c.5815C>T (p.Arg1939Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550500G>C | CA352139616 | SCN5A | c.5869C>G (p.Arg1957Gly) c.5872C>G (p.Arg1958Gly) c.5818C>G (p.Arg1940Gly) c.5710C>G (p.Arg1904Gly) c.5773C>G (p.Arg1925Gly) c.5743C>G (p.Arg1915Gly) c.5815C>G (p.Arg1939Gly) | gnomAD v4 |
| 3 | g.38550500G= | CA1358555903 | SCN5A | c.5869C= (p.Arg1957=) c.5872C= (p.Arg1958=) c.5818C= (p.Arg1940=) c.5710C= (p.Arg1904=) c.5773C= (p.Arg1925=) c.5743C= (p.Arg1915=) c.5815C= (p.Arg1939=) | |
| 3 | g.38550500G>T | CA433331493 | SCN5A | c.5869C>A (p.Arg1957=) c.5872C>A (p.Arg1958=) c.5818C>A (p.Arg1940=) c.5710C>A (p.Arg1904=) c.5773C>A (p.Arg1925=) c.5743C>A (p.Arg1915=) c.5815C>A (p.Arg1939=) | |
| 3 | g.38550501G>A | CA433331496 | SCN5A | c.5868C>T (p.Ser1956=) c.5871C>T (p.Ser1957=) c.5817C>T (p.Ser1939=) c.5709C>T (p.Ser1903=) c.5772C>T (p.Ser1924=) c.5742C>T (p.Ser1914=) c.5814C>T (p.Ser1938=) | |
| 3 | g.38550501G>C | CA064935 | SCN5A | c.5868C>G (p.Ser1956=) c.5871C>G (p.Ser1957=) c.5817C>G (p.Ser1939=) c.5709C>G (p.Ser1903=) c.5772C>G (p.Ser1924=) c.5742C>G (p.Ser1914=) c.5814C>G (p.Ser1938=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550501G= | CA1358555910 | SCN5A | c.5868C= (p.Ser1956=) c.5871C= (p.Ser1957=) c.5817C= (p.Ser1939=) c.5709C= (p.Ser1903=) c.5772C= (p.Ser1924=) c.5742C= (p.Ser1914=) c.5814C= (p.Ser1938=) | |
| 3 | g.38550501G>T | CA433331497 | SCN5A | c.5868C>A (p.Ser1956=) c.5871C>A (p.Ser1957=) c.5817C>A (p.Ser1939=) c.5709C>A (p.Ser1903=) c.5772C>A (p.Ser1924=) c.5742C>A (p.Ser1914=) c.5814C>A (p.Ser1938=) | |
| 3 | g.38550502G>A | CA352139624 | SCN5A | c.5867C>T (p.Ser1956Phe) c.5870C>T (p.Ser1957Phe) c.5816C>T (p.Ser1939Phe) c.5708C>T (p.Ser1903Phe) c.5771C>T (p.Ser1924Phe) c.5741C>T (p.Ser1914Phe) c.5813C>T (p.Ser1938Phe) | COSMIC COSMIC COSMIC |
| 3 | g.38550502G>C | CA352139620 | SCN5A | c.5867C>G (p.Ser1956Cys) c.5870C>G (p.Ser1957Cys) c.5816C>G (p.Ser1939Cys) c.5708C>G (p.Ser1903Cys) c.5771C>G (p.Ser1924Cys) c.5741C>G (p.Ser1914Cys) c.5813C>G (p.Ser1938Cys) | |
| 3 | g.38550502G>T | CA352139622 | SCN5A | c.5867C>A (p.Ser1956Tyr) c.5870C>A (p.Ser1957Tyr) c.5816C>A (p.Ser1939Tyr) c.5708C>A (p.Ser1903Tyr) c.5771C>A (p.Ser1924Tyr) c.5741C>A (p.Ser1914Tyr) c.5813C>A (p.Ser1938Tyr) | |
| 3 | g.38550503A= | CA1358555912 | SCN5A | c.5866T= (p.Ser1956=) c.5869T= (p.Ser1957=) c.5815T= (p.Ser1939=) c.5707T= (p.Ser1903=) c.5770T= (p.Ser1924=) c.5740T= (p.Ser1914=) c.5812T= (p.Ser1938=) | |
| 3 | g.38550503A>C | CA352139626 | SCN5A | c.5866T>G (p.Ser1956Ala) c.5869T>G (p.Ser1957Ala) c.5815T>G (p.Ser1939Ala) c.5707T>G (p.Ser1903Ala) c.5770T>G (p.Ser1924Ala) c.5740T>G (p.Ser1914Ala) c.5812T>G (p.Ser1938Ala) | |
| 3 | g.38550503A>G | CA064930 | SCN5A | c.5866T>C (p.Ser1956Pro) c.5869T>C (p.Ser1957Pro) c.5815T>C (p.Ser1939Pro) c.5707T>C (p.Ser1903Pro) c.5770T>C (p.Ser1924Pro) c.5740T>C (p.Ser1914Pro) c.5812T>C (p.Ser1938Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550503A>T | CA352139628 | SCN5A | c.5866T>A (p.Ser1956Thr) c.5869T>A (p.Ser1957Thr) c.5815T>A (p.Ser1939Thr) c.5707T>A (p.Ser1903Thr) c.5770T>A (p.Ser1924Thr) c.5740T>A (p.Ser1914Thr) c.5812T>A (p.Ser1938Thr) | |
| 3 | g.38550504G>A | CA433331498 | SCN5A | c.5865C>T (p.Phe1955=) c.5868C>T (p.Phe1956=) c.5814C>T (p.Phe1938=) c.5706C>T (p.Phe1902=) c.5769C>T (p.Phe1923=) c.5739C>T (p.Phe1913=) c.5811C>T (p.Phe1937=) | COSMIC COSMIC COSMIC |
| 3 | g.38550504G>C | CA352139629 | SCN5A | c.5865C>G (p.Phe1955Leu) c.5868C>G (p.Phe1956Leu) c.5814C>G (p.Phe1938Leu) c.5706C>G (p.Phe1902Leu) c.5769C>G (p.Phe1923Leu) c.5739C>G (p.Phe1913Leu) c.5811C>G (p.Phe1937Leu) | |
| 3 | g.38550504G>T | CA352139630 | SCN5A | c.5865C>A (p.Phe1955Leu) c.5868C>A (p.Phe1956Leu) c.5814C>A (p.Phe1938Leu) c.5706C>A (p.Phe1902Leu) c.5769C>A (p.Phe1923Leu) c.5739C>A (p.Phe1913Leu) c.5811C>A (p.Phe1937Leu) | |
| 3 | g.38550505A>C | CA352139632 | SCN5A | c.5864T>G (p.Phe1955Cys) c.5867T>G (p.Phe1956Cys) c.5813T>G (p.Phe1938Cys) c.5705T>G (p.Phe1902Cys) c.5768T>G (p.Phe1923Cys) c.5738T>G (p.Phe1913Cys) c.5810T>G (p.Phe1937Cys) | |
| 3 | g.38550505A>G | CA352139634 | SCN5A | c.5864T>C (p.Phe1955Ser) c.5867T>C (p.Phe1956Ser) c.5813T>C (p.Phe1938Ser) c.5705T>C (p.Phe1902Ser) c.5768T>C (p.Phe1923Ser) c.5738T>C (p.Phe1913Ser) c.5810T>C (p.Phe1937Ser) | ClinVar |
| 3 | g.38550505A>T | CA352139635 | SCN5A | c.5864T>A (p.Phe1955Tyr) c.5867T>A (p.Phe1956Tyr) c.5813T>A (p.Phe1938Tyr) c.5705T>A (p.Phe1902Tyr) c.5768T>A (p.Phe1923Tyr) c.5738T>A (p.Phe1913Tyr) c.5810T>A (p.Phe1937Tyr) | |
| 3 | g.38550506A>C | CA352139637 | SCN5A | c.5863T>G (p.Phe1955Val) c.5866T>G (p.Phe1956Val) c.5812T>G (p.Phe1938Val) c.5704T>G (p.Phe1902Val) c.5767T>G (p.Phe1923Val) c.5737T>G (p.Phe1913Val) c.5809T>G (p.Phe1937Val) | |
| 3 | g.38550506A>G | CA352139639 | SCN5A | c.5863T>C (p.Phe1955Leu) c.5866T>C (p.Phe1956Leu) c.5812T>C (p.Phe1938Leu) c.5704T>C (p.Phe1902Leu) c.5767T>C (p.Phe1923Leu) c.5737T>C (p.Phe1913Leu) c.5809T>C (p.Phe1937Leu) | |
| 3 | g.38550506A>T | CA352139640 | SCN5A | c.5863T>A (p.Phe1955Ile) c.5866T>A (p.Phe1956Ile) c.5812T>A (p.Phe1938Ile) c.5704T>A (p.Phe1902Ile) c.5767T>A (p.Phe1923Ile) c.5737T>A (p.Phe1913Ile) c.5809T>A (p.Phe1937Ile) | |
| 3 | g.38550507G>A | CA064925 | SCN5A | c.5862C>T (p.Asn1954=) c.5865C>T (p.Asn1955=) c.5811C>T (p.Asn1937=) c.5703C>T (p.Asn1901=) c.5766C>T (p.Asn1922=) c.5736C>T (p.Asn1912=) c.5808C>T (p.Asn1936=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550507G>C | CA352139645 | SCN5A | c.5862C>G (p.Asn1954Lys) c.5865C>G (p.Asn1955Lys) c.5811C>G (p.Asn1937Lys) c.5703C>G (p.Asn1901Lys) c.5766C>G (p.Asn1922Lys) c.5736C>G (p.Asn1912Lys) c.5808C>G (p.Asn1936Lys) | |
| 3 | g.38550507G= | CA1358555914 | SCN5A | c.5862C= (p.Asn1954=) c.5865C= (p.Asn1955=) c.5811C= (p.Asn1937=) c.5703C= (p.Asn1901=) c.5766C= (p.Asn1922=) c.5736C= (p.Asn1912=) c.5808C= (p.Asn1936=) | |
| 3 | g.38550507G>T | CA352139642 | SCN5A | c.5862C>A (p.Asn1954Lys) c.5865C>A (p.Asn1955Lys) c.5811C>A (p.Asn1937Lys) c.5703C>A (p.Asn1901Lys) c.5766C>A (p.Asn1922Lys) c.5736C>A (p.Asn1912Lys) c.5808C>A (p.Asn1936Lys) | gnomAD v4 |
| 3 | g.38550508T>A | CA352139649 | SCN5A | c.5861A>T (p.Asn1954Ile) c.5864A>T (p.Asn1955Ile) c.5810A>T (p.Asn1937Ile) c.5702A>T (p.Asn1901Ile) c.5765A>T (p.Asn1922Ile) c.5735A>T (p.Asn1912Ile) c.5807A>T (p.Asn1936Ile) | |
| 3 | g.38550508T>C | CA352139647 | SCN5A | c.5861A>G (p.Asn1954Ser) c.5864A>G (p.Asn1955Ser) c.5810A>G (p.Asn1937Ser) c.5702A>G (p.Asn1901Ser) c.5765A>G (p.Asn1922Ser) c.5735A>G (p.Asn1912Ser) c.5807A>G (p.Asn1936Ser) | gnomAD v4 |
| 3 | g.38550508T>G | CA352139648 | SCN5A | c.5861A>C (p.Asn1954Thr) c.5864A>C (p.Asn1955Thr) c.5810A>C (p.Asn1937Thr) c.5702A>C (p.Asn1901Thr) c.5765A>C (p.Asn1922Thr) c.5735A>C (p.Asn1912Thr) c.5807A>C (p.Asn1936Thr) | |
| 3 | g.38550509T>A | CA352139652 | SCN5A | c.5860A>T (p.Asn1954Tyr) c.5863A>T (p.Asn1955Tyr) c.5809A>T (p.Asn1937Tyr) c.5701A>T (p.Asn1901Tyr) c.5764A>T (p.Asn1922Tyr) c.5734A>T (p.Asn1912Tyr) c.5806A>T (p.Asn1936Tyr) | dbSNP gnomAD v2 |
| 3 | g.38550509T>C | CA352139654 | SCN5A | c.5860A>G (p.Asn1954Asp) c.5863A>G (p.Asn1955Asp) c.5809A>G (p.Asn1937Asp) c.5701A>G (p.Asn1901Asp) c.5764A>G (p.Asn1922Asp) c.5734A>G (p.Asn1912Asp) c.5806A>G (p.Asn1936Asp) | |
| 3 | g.38550509T>G | CA352139655 | SCN5A | c.5860A>C (p.Asn1954His) c.5863A>C (p.Asn1955His) c.5809A>C (p.Asn1937His) c.5701A>C (p.Asn1901His) c.5764A>C (p.Asn1922His) c.5734A>C (p.Asn1912His) c.5806A>C (p.Asn1936His) | |
| 3 | g.38550509T= | CA1358555917 | SCN5A | c.5860A= (p.Asn1954=) c.5863A= (p.Asn1955=) c.5809A= (p.Asn1937=) c.5701A= (p.Asn1901=) c.5764A= (p.Asn1922=) c.5734A= (p.Asn1912=) c.5806A= (p.Asn1936=) | |
| 3 | g.38550509_38550513delinsTCTCA | CA1358555916 | SCN5A | c.5856_5860delinsTGAGA (p.Ser1952=) c.5859_5863delinsTGAGA (p.Ser1953=) c.5805_5809delinsTGAGA (p.Ser1935=) c.5697_5701delinsTGAGA (p.Ser1899=) c.5760_5764delinsTGAGA (p.Ser1920=) c.5730_5734delinsTGAGA (p.Ser1910=) c.5802_5806delinsTGAGA (p.Ser1934=) | |
| 3 | g.38550510C>A | CA352139657 | SCN5A | c.5859G>T (p.Glu1953Asp) c.5862G>T (p.Glu1954Asp) c.5808G>T (p.Glu1936Asp) c.5700G>T (p.Glu1900Asp) c.5763G>T (p.Glu1921Asp) c.5733G>T (p.Glu1911Asp) c.5805G>T (p.Glu1935Asp) | ClinVar COSMIC COSMIC COSMIC |
| 3 | g.38550510C>G | CA352139659 | SCN5A | c.5859G>C (p.Glu1953Asp) c.5862G>C (p.Glu1954Asp) c.5808G>C (p.Glu1936Asp) c.5700G>C (p.Glu1900Asp) c.5763G>C (p.Glu1921Asp) c.5733G>C (p.Glu1911Asp) c.5805G>C (p.Glu1935Asp) | |
| 3 | g.38550510C>T | CA433331511 | SCN5A | c.5859G>A (p.Glu1953=) c.5862G>A (p.Glu1954=) c.5808G>A (p.Glu1936=) c.5700G>A (p.Glu1900=) c.5763G>A (p.Glu1921=) c.5733G>A (p.Glu1911=) c.5805G>A (p.Glu1935=) | gnomAD v4 |
| 3 | g.38550514_38550517del | CA064916 | SCN5A | c.5856_5859del (p.Ser1952ArgfsTer?) c.5859_5862del (p.Ser1953ArgfsTer?) c.5805_5808del (p.Ser1935ArgfsTer?) c.5697_5700del (p.Ser1899ArgfsTer?) c.5760_5763del (p.Ser1920ArgfsTer?) c.5730_5733del (p.Ser1910ArgfsTer?) c.5802_5805del (p.Ser1934ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550511T>A | CA352139662 | SCN5A | c.5858A>T (p.Glu1953Val) c.5861A>T (p.Glu1954Val) c.5807A>T (p.Glu1936Val) c.5699A>T (p.Glu1900Val) c.5762A>T (p.Glu1921Val) c.5732A>T (p.Glu1911Val) c.5804A>T (p.Glu1935Val) | |
| 3 | g.38550511T>C | CA352139664 | SCN5A | c.5858A>G (p.Glu1953Gly) c.5861A>G (p.Glu1954Gly) c.5807A>G (p.Glu1936Gly) c.5699A>G (p.Glu1900Gly) c.5762A>G (p.Glu1921Gly) c.5732A>G (p.Glu1911Gly) c.5804A>G (p.Glu1935Gly) | |
| 3 | g.38550511T>G | CA352139666 | SCN5A | c.5858A>C (p.Glu1953Ala) c.5861A>C (p.Glu1954Ala) c.5807A>C (p.Glu1936Ala) c.5699A>C (p.Glu1900Ala) c.5762A>C (p.Glu1921Ala) c.5732A>C (p.Glu1911Ala) c.5804A>C (p.Glu1935Ala) | |
| 3 | g.38550515_38550521del | CA2697550802 | SCN5A | c.5852_5858del (p.Met1951ArgfsTer?) c.5855_5861del (p.Met1952ArgfsTer?) c.5801_5807del (p.Met1934ArgfsTer?) c.5693_5699del (p.Met1898ArgfsTer?) c.5756_5762del (p.Met1919ArgfsTer?) c.5726_5732del (p.Met1909ArgfsTer?) c.5798_5804del (p.Met1933ArgfsTer?) | ClinVar |
| 3 | g.38550512C>A | CA352139667 | SCN5A | c.5857G>T (p.Glu1953Ter) c.5860G>T (p.Glu1954Ter) c.5806G>T (p.Glu1936Ter) c.5698G>T (p.Glu1900Ter) c.5761G>T (p.Glu1921Ter) c.5731G>T (p.Glu1911Ter) c.5803G>T (p.Glu1935Ter) | dbSNP gnomAD v4 |
| 3 | g.38550512C= | CA1358555921 | SCN5A | c.5857G= (p.Glu1953=) c.5860G= (p.Glu1954=) c.5806G= (p.Glu1936=) c.5698G= (p.Glu1900=) c.5761G= (p.Glu1921=) c.5731G= (p.Glu1911=) c.5803G= (p.Glu1935=) | |
| 3 | g.38550512C>G | CA352139668 | SCN5A | c.5857G>C (p.Glu1953Gln) c.5860G>C (p.Glu1954Gln) c.5806G>C (p.Glu1936Gln) c.5698G>C (p.Glu1900Gln) c.5761G>C (p.Glu1921Gln) c.5731G>C (p.Glu1911Gln) c.5803G>C (p.Glu1935Gln) | |
| 3 | g.38550512C>T | CA019513 | SCN5A | c.5857G>A (p.Glu1953Lys) c.5860G>A (p.Glu1954Lys) c.5806G>A (p.Glu1936Lys) c.5698G>A (p.Glu1900Lys) c.5761G>A (p.Glu1921Lys) c.5731G>A (p.Glu1911Lys) c.5803G>A (p.Glu1935Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550513A>C | CA352139670 | SCN5A | c.5856T>G (p.Ser1952Arg) c.5859T>G (p.Ser1953Arg) c.5805T>G (p.Ser1935Arg) c.5697T>G (p.Ser1899Arg) c.5760T>G (p.Ser1920Arg) c.5730T>G (p.Ser1910Arg) c.5802T>G (p.Ser1934Arg) | |
| 3 | g.38550513A>G | CA433331516 | SCN5A | c.5856T>C (p.Ser1952=) c.5859T>C (p.Ser1953=) c.5805T>C (p.Ser1935=) c.5697T>C (p.Ser1899=) c.5760T>C (p.Ser1920=) c.5730T>C (p.Ser1910=) c.5802T>C (p.Ser1934=) |