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.38550411G>A | CA433331407 | SCN5A | c.5958C>T (p.Asn1986=) c.5961C>T (p.Asn1987=) c.5907C>T (p.Asn1969=) c.5799C>T (p.Asn1933=) c.5862C>T (p.Asn1954=) c.5832C>T (p.Asn1944=) c.5904C>T (p.Asn1968=) | |
| 3 | g.38550411G>C | CA352139301 | SCN5A | c.5958C>G (p.Asn1986Lys) c.5961C>G (p.Asn1987Lys) c.5907C>G (p.Asn1969Lys) c.5799C>G (p.Asn1933Lys) c.5862C>G (p.Asn1954Lys) c.5832C>G (p.Asn1944Lys) c.5904C>G (p.Asn1968Lys) | |
| 3 | g.38550411G= | CA1358555706 | SCN5A | c.5958C= (p.Asn1986=) c.5961C= (p.Asn1987=) c.5907C= (p.Asn1969=) c.5799C= (p.Asn1933=) c.5862C= (p.Asn1954=) c.5832C= (p.Asn1944=) c.5904C= (p.Asn1968=) | |
| 3 | g.38550411G>T | CA019555 | SCN5A | c.5958C>A (p.Asn1986Lys) c.5961C>A (p.Asn1987Lys) c.5907C>A (p.Asn1969Lys) c.5799C>A (p.Asn1933Lys) c.5862C>A (p.Asn1954Lys) c.5832C>A (p.Asn1944Lys) c.5904C>A (p.Asn1968Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550412T>A | CA352139306 | SCN5A | c.5957A>T (p.Asn1986Ile) c.5960A>T (p.Asn1987Ile) c.5906A>T (p.Asn1969Ile) c.5798A>T (p.Asn1933Ile) c.5861A>T (p.Asn1954Ile) c.5831A>T (p.Asn1944Ile) c.5903A>T (p.Asn1968Ile) | COSMIC COSMIC COSMIC |
| 3 | g.38550412T>C | CA352139307 | SCN5A | c.5957A>G (p.Asn1986Ser) c.5960A>G (p.Asn1987Ser) c.5906A>G (p.Asn1969Ser) c.5798A>G (p.Asn1933Ser) c.5861A>G (p.Asn1954Ser) c.5831A>G (p.Asn1944Ser) c.5903A>G (p.Asn1968Ser) | |
| 3 | g.38550412T>G | CA352139304 | SCN5A | c.5957A>C (p.Asn1986Thr) c.5960A>C (p.Asn1987Thr) c.5906A>C (p.Asn1969Thr) c.5798A>C (p.Asn1933Thr) c.5861A>C (p.Asn1954Thr) c.5831A>C (p.Asn1944Thr) c.5903A>C (p.Asn1968Thr) | gnomAD v4 |
| 3 | g.38550413T>A | CA352139310 | SCN5A | c.5956A>T (p.Asn1986Tyr) c.5959A>T (p.Asn1987Tyr) c.5905A>T (p.Asn1969Tyr) c.5797A>T (p.Asn1933Tyr) c.5860A>T (p.Asn1954Tyr) c.5830A>T (p.Asn1944Tyr) c.5902A>T (p.Asn1968Tyr) | |
| 3 | g.38550413T>C | CA352139312 | SCN5A | c.5956A>G (p.Asn1986Asp) c.5959A>G (p.Asn1987Asp) c.5905A>G (p.Asn1969Asp) c.5797A>G (p.Asn1933Asp) c.5860A>G (p.Asn1954Asp) c.5830A>G (p.Asn1944Asp) c.5902A>G (p.Asn1968Asp) | dbSNP |
| 3 | g.38550413T>G | CA352139313 | SCN5A | c.5956A>C (p.Asn1986His) c.5959A>C (p.Asn1987His) c.5905A>C (p.Asn1969His) c.5797A>C (p.Asn1933His) c.5860A>C (p.Asn1954His) c.5830A>C (p.Asn1944His) c.5902A>C (p.Asn1968His) | |
| 3 | g.38550413T= | CA1358555709 | SCN5A | c.5956A= (p.Asn1986=) c.5959A= (p.Asn1987=) c.5905A= (p.Asn1969=) c.5797A= (p.Asn1933=) c.5860A= (p.Asn1954=) c.5830A= (p.Asn1944=) c.5902A= (p.Asn1968=) | |
| 3 | g.38550414A>C | CA352139315 | SCN5A | c.5955T>G (p.Asp1985Glu) c.5958T>G (p.Asp1986Glu) c.5904T>G (p.Asp1968Glu) c.5796T>G (p.Asp1932Glu) c.5859T>G (p.Asp1953Glu) c.5829T>G (p.Asp1943Glu) c.5901T>G (p.Asp1967Glu) | |
| 3 | g.38550414A>G | CA433331408 | SCN5A | c.5955T>C (p.Asp1985=) c.5958T>C (p.Asp1986=) c.5904T>C (p.Asp1968=) c.5796T>C (p.Asp1932=) c.5859T>C (p.Asp1953=) c.5829T>C (p.Asp1943=) c.5901T>C (p.Asp1967=) | |
| 3 | g.38550414A>T | CA352139317 | SCN5A | c.5955T>A (p.Asp1985Glu) c.5958T>A (p.Asp1986Glu) c.5904T>A (p.Asp1968Glu) c.5796T>A (p.Asp1932Glu) c.5859T>A (p.Asp1953Glu) c.5829T>A (p.Asp1943Glu) c.5901T>A (p.Asp1967Glu) | |
| 3 | g.38550414_38550416dup | CA2697550800 | SCN5A | c.5953_5955dup (p.Asp1985_Asn1986insAsp) c.5956_5958dup (p.Asp1986_Asn1987insAsp) c.5902_5904dup (p.Asp1968_Asn1969insAsp) c.5794_5796dup (p.Asp1932_Asn1933insAsp) c.5857_5859dup (p.Asp1953_Asn1954insAsp) c.5827_5829dup (p.Asp1943_Asn1944insAsp) c.5899_5901dup (p.Asp1967_Asn1968insAsp) | ClinVar |
| 3 | g.38550415T>A | CA352139321 | SCN5A | c.5954A>T (p.Asp1985Val) c.5957A>T (p.Asp1986Val) c.5903A>T (p.Asp1968Val) c.5795A>T (p.Asp1932Val) c.5858A>T (p.Asp1953Val) c.5828A>T (p.Asp1943Val) c.5900A>T (p.Asp1967Val) | |
| 3 | g.38550415T>C | CA72937670 | SCN5A | c.5954A>G (p.Asp1985Gly) c.5957A>G (p.Asp1986Gly) c.5903A>G (p.Asp1968Gly) c.5795A>G (p.Asp1932Gly) c.5858A>G (p.Asp1953Gly) c.5828A>G (p.Asp1943Gly) c.5900A>G (p.Asp1967Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550415T>G | CA352139319 | SCN5A | c.5954A>C (p.Asp1985Ala) c.5957A>C (p.Asp1986Ala) c.5903A>C (p.Asp1968Ala) c.5795A>C (p.Asp1932Ala) c.5858A>C (p.Asp1953Ala) c.5828A>C (p.Asp1943Ala) c.5900A>C (p.Asp1967Ala) | |
| 3 | g.38550415T= | CA1358555711 | SCN5A | c.5954A= (p.Asp1985=) c.5957A= (p.Asp1986=) c.5903A= (p.Asp1968=) c.5795A= (p.Asp1932=) c.5858A= (p.Asp1953=) c.5828A= (p.Asp1943=) c.5900A= (p.Asp1967=) | |
| 3 | g.38550416C>A | CA352139323 | SCN5A | c.5953G>T (p.Asp1985Tyr) c.5956G>T (p.Asp1986Tyr) c.5902G>T (p.Asp1968Tyr) c.5794G>T (p.Asp1932Tyr) c.5857G>T (p.Asp1953Tyr) c.5827G>T (p.Asp1943Tyr) c.5899G>T (p.Asp1967Tyr) | gnomAD v4 |
| 3 | g.38550416C= | CA1358555712 | SCN5A | c.5953G= (p.Asp1985=) c.5956G= (p.Asp1986=) c.5902G= (p.Asp1968=) c.5794G= (p.Asp1932=) c.5857G= (p.Asp1953=) c.5827G= (p.Asp1943=) c.5899G= (p.Asp1967=) | |
| 3 | g.38550416C>G | CA352139327 | SCN5A | c.5953G>C (p.Asp1985His) c.5956G>C (p.Asp1986His) c.5902G>C (p.Asp1968His) c.5794G>C (p.Asp1932His) c.5857G>C (p.Asp1953His) c.5827G>C (p.Asp1943His) c.5899G>C (p.Asp1967His) | |
| 3 | g.38550416C>T | CA065059 | SCN5A | c.5953G>A (p.Asp1985Asn) c.5956G>A (p.Asp1986Asn) c.5902G>A (p.Asp1968Asn) c.5794G>A (p.Asp1932Asn) c.5857G>A (p.Asp1953Asn) c.5827G>A (p.Asp1943Asn) c.5899G>A (p.Asp1967Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550417G>A | CA72937672 | SCN5A | c.5952C>T (p.Ser1984=) c.5955C>T (p.Ser1985=) c.5901C>T (p.Ser1967=) c.5793C>T (p.Ser1931=) c.5856C>T (p.Ser1952=) c.5826C>T (p.Ser1942=) c.5898C>T (p.Ser1966=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550417G>C | CA352139329 | SCN5A | c.5952C>G (p.Ser1984Arg) c.5955C>G (p.Ser1985Arg) c.5901C>G (p.Ser1967Arg) c.5793C>G (p.Ser1931Arg) c.5856C>G (p.Ser1952Arg) c.5826C>G (p.Ser1942Arg) c.5898C>G (p.Ser1966Arg) | gnomAD v4 |
| 3 | g.38550417G= | CA1358555718 | SCN5A | c.5952C= (p.Ser1984=) c.5955C= (p.Ser1985=) c.5901C= (p.Ser1967=) c.5793C= (p.Ser1931=) c.5856C= (p.Ser1952=) c.5826C= (p.Ser1942=) c.5898C= (p.Ser1966=) | |
| 3 | g.38550417G>T | CA352139331 | SCN5A | c.5952C>A (p.Ser1984Arg) c.5955C>A (p.Ser1985Arg) c.5901C>A (p.Ser1967Arg) c.5793C>A (p.Ser1931Arg) c.5856C>A (p.Ser1952Arg) c.5826C>A (p.Ser1942Arg) c.5898C>A (p.Ser1966Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550418C>A | CA352139333 | SCN5A | c.5951G>T (p.Ser1984Ile) c.5954G>T (p.Ser1985Ile) c.5900G>T (p.Ser1967Ile) c.5792G>T (p.Ser1931Ile) c.5855G>T (p.Ser1952Ile) c.5825G>T (p.Ser1942Ile) c.5897G>T (p.Ser1966Ile) | gnomAD v4 |
| 3 | g.38550418C>G | CA352139337 | SCN5A | c.5951G>C (p.Ser1984Thr) c.5954G>C (p.Ser1985Thr) c.5900G>C (p.Ser1967Thr) c.5792G>C (p.Ser1931Thr) c.5855G>C (p.Ser1952Thr) c.5825G>C (p.Ser1942Thr) c.5897G>C (p.Ser1966Thr) | |
| 3 | g.38550418C>T | CA352139335 | SCN5A | c.5951G>A (p.Ser1984Asn) c.5954G>A (p.Ser1985Asn) c.5900G>A (p.Ser1967Asn) c.5792G>A (p.Ser1931Asn) c.5855G>A (p.Ser1952Asn) c.5825G>A (p.Ser1942Asn) c.5897G>A (p.Ser1966Asn) | gnomAD v4 |
| 3 | g.38550419T>A | CA352139339 | SCN5A | c.5950A>T (p.Ser1984Cys) c.5953A>T (p.Ser1985Cys) c.5899A>T (p.Ser1967Cys) c.5791A>T (p.Ser1931Cys) c.5854A>T (p.Ser1952Cys) c.5824A>T (p.Ser1942Cys) c.5896A>T (p.Ser1966Cys) | |
| 3 | g.38550419T>C | CA352139342 | SCN5A | c.5950A>G (p.Ser1984Gly) c.5953A>G (p.Ser1985Gly) c.5899A>G (p.Ser1967Gly) c.5791A>G (p.Ser1931Gly) c.5854A>G (p.Ser1952Gly) c.5824A>G (p.Ser1942Gly) c.5896A>G (p.Ser1966Gly) | gnomAD v4 |
| 3 | g.38550419T>G | CA352139341 | SCN5A | c.5950A>C (p.Ser1984Arg) c.5953A>C (p.Ser1985Arg) c.5899A>C (p.Ser1967Arg) c.5791A>C (p.Ser1931Arg) c.5854A>C (p.Ser1952Arg) c.5824A>C (p.Ser1942Arg) c.5896A>C (p.Ser1966Arg) | |
| 3 | g.38550420G>A | CA433331409 | SCN5A | c.5949C>T (p.Thr1983=) c.5952C>T (p.Thr1984=) c.5898C>T (p.Thr1966=) c.5790C>T (p.Thr1930=) c.5853C>T (p.Thr1951=) c.5823C>T (p.Thr1941=) c.5895C>T (p.Thr1965=) | gnomAD v4 |
| 3 | g.38550420G>C | CA433331410 | SCN5A | c.5949C>G (p.Thr1983=) c.5952C>G (p.Thr1984=) c.5898C>G (p.Thr1966=) c.5790C>G (p.Thr1930=) c.5853C>G (p.Thr1951=) c.5823C>G (p.Thr1941=) c.5895C>G (p.Thr1965=) | |
| 3 | g.38550420G>T | CA433331411 | SCN5A | c.5949C>A (p.Thr1983=) c.5952C>A (p.Thr1984=) c.5898C>A (p.Thr1966=) c.5790C>A (p.Thr1930=) c.5853C>A (p.Thr1951=) c.5823C>A (p.Thr1941=) c.5895C>A (p.Thr1965=) | gnomAD v4 |
| 3 | g.38550421G>A | CA065054 | SCN5A | c.5948C>T (p.Thr1983Ile) c.5951C>T (p.Thr1984Ile) c.5897C>T (p.Thr1966Ile) c.5789C>T (p.Thr1930Ile) c.5852C>T (p.Thr1951Ile) c.5822C>T (p.Thr1941Ile) c.5894C>T (p.Thr1965Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550421G>C | CA352139347 | SCN5A | c.5948C>G (p.Thr1983Ser) c.5951C>G (p.Thr1984Ser) c.5897C>G (p.Thr1966Ser) c.5789C>G (p.Thr1930Ser) c.5852C>G (p.Thr1951Ser) c.5822C>G (p.Thr1941Ser) c.5894C>G (p.Thr1965Ser) | |
| 3 | g.38550421G= | CA1358555724 | SCN5A | c.5948C= (p.Thr1983=) c.5951C= (p.Thr1984=) c.5897C= (p.Thr1966=) c.5789C= (p.Thr1930=) c.5852C= (p.Thr1951=) c.5822C= (p.Thr1941=) c.5894C= (p.Thr1965=) | |
| 3 | g.38550421G>T | CA352139345 | SCN5A | c.5948C>A (p.Thr1983Asn) c.5951C>A (p.Thr1984Asn) c.5897C>A (p.Thr1966Asn) c.5789C>A (p.Thr1930Asn) c.5852C>A (p.Thr1951Asn) c.5822C>A (p.Thr1941Asn) c.5894C>A (p.Thr1965Asn) | |
| 3 | g.38550422T>A | CA352139349 | SCN5A | c.5947A>T (p.Thr1983Ser) c.5950A>T (p.Thr1984Ser) c.5896A>T (p.Thr1966Ser) c.5788A>T (p.Thr1930Ser) c.5851A>T (p.Thr1951Ser) c.5821A>T (p.Thr1941Ser) c.5893A>T (p.Thr1965Ser) | |
| 3 | g.38550422T>C | CA352139351 | SCN5A | c.5947A>G (p.Thr1983Ala) c.5950A>G (p.Thr1984Ala) c.5896A>G (p.Thr1966Ala) c.5788A>G (p.Thr1930Ala) c.5851A>G (p.Thr1951Ala) c.5821A>G (p.Thr1941Ala) c.5893A>G (p.Thr1965Ala) | |
| 3 | g.38550422T>G | CA352139350 | SCN5A | c.5947A>C (p.Thr1983Pro) c.5950A>C (p.Thr1984Pro) c.5896A>C (p.Thr1966Pro) c.5788A>C (p.Thr1930Pro) c.5851A>C (p.Thr1951Pro) c.5821A>C (p.Thr1941Pro) c.5893A>C (p.Thr1965Pro) | |
| 3 | g.38550423G>A | CA019551 | SCN5A | c.5946C>T (p.Ala1982=) c.5949C>T (p.Ala1983=) c.5895C>T (p.Ala1965=) c.5787C>T (p.Ala1929=) c.5850C>T (p.Ala1950=) c.5820C>T (p.Ala1940=) c.5892C>T (p.Ala1964=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550423G>C | CA433331412 | SCN5A | c.5946C>G (p.Ala1982=) c.5949C>G (p.Ala1983=) c.5895C>G (p.Ala1965=) c.5787C>G (p.Ala1929=) c.5850C>G (p.Ala1950=) c.5820C>G (p.Ala1940=) c.5892C>G (p.Ala1964=) | |
| 3 | g.38550423G= | CA1358555727 | SCN5A | c.5946C= (p.Ala1982=) c.5949C= (p.Ala1983=) c.5895C= (p.Ala1965=) c.5787C= (p.Ala1929=) c.5850C= (p.Ala1950=) c.5820C= (p.Ala1940=) c.5892C= (p.Ala1964=) | |
| 3 | g.38550423G>T | CA433331413 | SCN5A | c.5946C>A (p.Ala1982=) c.5949C>A (p.Ala1983=) c.5895C>A (p.Ala1965=) c.5787C>A (p.Ala1929=) c.5850C>A (p.Ala1950=) c.5820C>A (p.Ala1940=) c.5892C>A (p.Ala1964=) | |
| 3 | g.38550424G>A | CA065041 | SCN5A | c.5945C>T (p.Ala1982Val) c.5948C>T (p.Ala1983Val) c.5894C>T (p.Ala1965Val) c.5786C>T (p.Ala1929Val) c.5849C>T (p.Ala1950Val) c.5819C>T (p.Ala1940Val) c.5891C>T (p.Ala1964Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550424G>C | CA352139353 | SCN5A | c.5945C>G (p.Ala1982Gly) c.5948C>G (p.Ala1983Gly) c.5894C>G (p.Ala1965Gly) c.5786C>G (p.Ala1929Gly) c.5849C>G (p.Ala1950Gly) c.5819C>G (p.Ala1940Gly) c.5891C>G (p.Ala1964Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550424G= | CA1358555734 | SCN5A | c.5945C= (p.Ala1982=) c.5948C= (p.Ala1983=) c.5894C= (p.Ala1965=) c.5786C= (p.Ala1929=) c.5849C= (p.Ala1950=) c.5819C= (p.Ala1940=) c.5891C= (p.Ala1964=) |