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.38550391_38550406del | CA2665106248 | SCN5A | c.5963_5978del (p.Gln1988ProfsTer?) c.5966_5981del (p.Gln1989ProfsTer?) c.5912_5927del (p.Gln1971ProfsTer?) c.5804_5819del (p.Gln1935ProfsTer?) c.5867_5882del (p.Gln1956ProfsTer?) c.5837_5852del (p.Gln1946ProfsTer?) c.5909_5924del (p.Gln1970ProfsTer?) | gnomAD v4 |
| 3 | g.38550400dup | CA16617940 | SCN5A | c.5973dup (p.Ser1992ValfsTer2) c.5976dup (p.Ser1993ValfsTer2) c.5922dup (p.Ser1975ValfsTer2) c.5814dup (p.Ser1939ValfsTer2) c.5877dup (p.Ser1960ValfsTer2) c.5847dup (p.Ser1950ValfsTer2) c.5919dup (p.Ser1974ValfsTer2) | ClinVar dbSNP |
| 3 | g.38550400C>A | CA352139262 | SCN5A | c.5969G>T (p.Arg1990Leu) c.5972G>T (p.Arg1991Leu) c.5918G>T (p.Arg1973Leu) c.5810G>T (p.Arg1937Leu) c.5873G>T (p.Arg1958Leu) c.5843G>T (p.Arg1948Leu) c.5915G>T (p.Arg1972Leu) | gnomAD v4 |
| 3 | g.38550400C= | CA1358555678 | SCN5A | c.5969G= (p.Arg1990=) c.5972G= (p.Arg1991=) c.5918G= (p.Arg1973=) c.5810G= (p.Arg1937=) c.5873G= (p.Arg1958=) c.5843G= (p.Arg1948=) c.5915G= (p.Arg1972=) | |
| 3 | g.38550400C>G | CA352139263 | SCN5A | c.5969G>C (p.Arg1990Pro) c.5972G>C (p.Arg1991Pro) c.5918G>C (p.Arg1973Pro) c.5810G>C (p.Arg1937Pro) c.5873G>C (p.Arg1958Pro) c.5843G>C (p.Arg1948Pro) c.5915G>C (p.Arg1972Pro) | |
| 3 | g.38550400C>T | CA019564 | SCN5A | c.5969G>A (p.Arg1990Gln) c.5972G>A (p.Arg1991Gln) c.5918G>A (p.Arg1973Gln) c.5810G>A (p.Arg1937Gln) c.5873G>A (p.Arg1958Gln) c.5843G>A (p.Arg1948Gln) c.5915G>A (p.Arg1972Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550401G>A | CA065094 | SCN5A | c.5968C>T (p.Arg1990Trp) c.5971C>T (p.Arg1991Trp) c.5917C>T (p.Arg1973Trp) c.5809C>T (p.Arg1937Trp) c.5872C>T (p.Arg1958Trp) c.5842C>T (p.Arg1948Trp) c.5914C>T (p.Arg1972Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550401G>C | CA352139266 | SCN5A | c.5968C>G (p.Arg1990Gly) c.5971C>G (p.Arg1991Gly) c.5917C>G (p.Arg1973Gly) c.5809C>G (p.Arg1937Gly) c.5872C>G (p.Arg1958Gly) c.5842C>G (p.Arg1948Gly) c.5914C>G (p.Arg1972Gly) | |
| 3 | g.38550401G= | CA1358555684 | SCN5A | c.5968C= (p.Arg1990=) c.5971C= (p.Arg1991=) c.5917C= (p.Arg1973=) c.5809C= (p.Arg1937=) c.5872C= (p.Arg1958=) c.5842C= (p.Arg1948=) c.5914C= (p.Arg1972=) | |
| 3 | g.38550401G>T | CA433134205 | SCN5A | c.5968C>A (p.Arg1990=) c.5971C>A (p.Arg1991=) c.5917C>A (p.Arg1973=) c.5809C>A (p.Arg1937=) c.5872C>A (p.Arg1958=) c.5842C>A (p.Arg1948=) c.5914C>A (p.Arg1972=) | gnomAD v4 |
| 3 | g.38550402C>A | CA433134206 | SCN5A | c.5967G>T (p.Val1989=) c.5970G>T (p.Val1990=) c.5916G>T (p.Val1972=) c.5808G>T (p.Val1936=) c.5871G>T (p.Val1957=) c.5841G>T (p.Val1947=) c.5913G>T (p.Val1971=) | gnomAD v4 |
| 3 | g.38550402C>G | CA433134207 | SCN5A | c.5967G>C (p.Val1989=) c.5970G>C (p.Val1990=) c.5916G>C (p.Val1972=) c.5808G>C (p.Val1936=) c.5871G>C (p.Val1957=) c.5841G>C (p.Val1947=) c.5913G>C (p.Val1971=) | |
| 3 | g.38550402C>T | CA433134208 | SCN5A | c.5967G>A (p.Val1989=) c.5970G>A (p.Val1990=) c.5916G>A (p.Val1972=) c.5808G>A (p.Val1936=) c.5871G>A (p.Val1957=) c.5841G>A (p.Val1947=) c.5913G>A (p.Val1971=) | |
| 3 | g.38550403A>C | CA352139271 | SCN5A | c.5966T>G (p.Val1989Gly) c.5969T>G (p.Val1990Gly) c.5915T>G (p.Val1972Gly) c.5807T>G (p.Val1936Gly) c.5870T>G (p.Val1957Gly) c.5840T>G (p.Val1947Gly) c.5912T>G (p.Val1971Gly) | |
| 3 | g.38550403A>G | CA352139268 | SCN5A | c.5966T>C (p.Val1989Ala) c.5969T>C (p.Val1990Ala) c.5915T>C (p.Val1972Ala) c.5807T>C (p.Val1936Ala) c.5870T>C (p.Val1957Ala) c.5840T>C (p.Val1947Ala) c.5912T>C (p.Val1971Ala) | |
| 3 | g.38550403A>T | CA352139269 | SCN5A | c.5966T>A (p.Val1989Glu) c.5969T>A (p.Val1990Glu) c.5915T>A (p.Val1972Glu) c.5807T>A (p.Val1936Glu) c.5870T>A (p.Val1957Glu) c.5840T>A (p.Val1947Glu) c.5912T>A (p.Val1971Glu) | gnomAD v4 |
| 3 | g.38550404C>A | CA352139273 | SCN5A | c.5965G>T (p.Val1989Leu) c.5968G>T (p.Val1990Leu) c.5914G>T (p.Val1972Leu) c.5806G>T (p.Val1936Leu) c.5869G>T (p.Val1957Leu) c.5839G>T (p.Val1947Leu) c.5911G>T (p.Val1971Leu) | |
| 3 | g.38550404C= | CA1358555688 | SCN5A | c.5965G= (p.Val1989=) c.5968G= (p.Val1990=) c.5914G= (p.Val1972=) c.5806G= (p.Val1936=) c.5869G= (p.Val1957=) c.5839G= (p.Val1947=) c.5911G= (p.Val1971=) | |
| 3 | g.38550404C>G | CA065087 | SCN5A | c.5965G>C (p.Val1989Leu) c.5968G>C (p.Val1990Leu) c.5914G>C (p.Val1972Leu) c.5806G>C (p.Val1936Leu) c.5869G>C (p.Val1957Leu) c.5839G>C (p.Val1947Leu) c.5911G>C (p.Val1971Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550404C>T | CA065080 | SCN5A | c.5965G>A (p.Val1989Met) c.5968G>A (p.Val1990Met) c.5914G>A (p.Val1972Met) c.5806G>A (p.Val1936Met) c.5869G>A (p.Val1957Met) c.5839G>A (p.Val1947Met) c.5911G>A (p.Val1971Met) | dbSNP ExAC gnomAD v2 |
| 3 | g.38550405C>A | CA352139276 | SCN5A | c.5964G>T (p.Gln1988His) c.5967G>T (p.Gln1989His) c.5913G>T (p.Gln1971His) c.5805G>T (p.Gln1935His) c.5868G>T (p.Gln1956His) c.5838G>T (p.Gln1946His) c.5910G>T (p.Gln1970His) | gnomAD v4 |
| 3 | g.38550405C>G | CA352139277 | SCN5A | c.5964G>C (p.Gln1988His) c.5967G>C (p.Gln1989His) c.5913G>C (p.Gln1971His) c.5805G>C (p.Gln1935His) c.5868G>C (p.Gln1956His) c.5838G>C (p.Gln1946His) c.5910G>C (p.Gln1970His) | |
| 3 | g.38550405C>T | CA433331402 | SCN5A | c.5964G>A (p.Gln1988=) c.5967G>A (p.Gln1989=) c.5913G>A (p.Gln1971=) c.5805G>A (p.Gln1935=) c.5868G>A (p.Gln1956=) c.5838G>A (p.Gln1946=) c.5910G>A (p.Gln1970=) | gnomAD v4 |
| 3 | g.38550406T>A | CA352139283 | SCN5A | c.5963A>T (p.Gln1988Leu) c.5966A>T (p.Gln1989Leu) c.5912A>T (p.Gln1971Leu) c.5804A>T (p.Gln1935Leu) c.5867A>T (p.Gln1956Leu) c.5837A>T (p.Gln1946Leu) c.5909A>T (p.Gln1970Leu) | |
| 3 | g.38550406T>C | CA72937666 | SCN5A | c.5963A>G (p.Gln1988Arg) c.5966A>G (p.Gln1989Arg) c.5912A>G (p.Gln1971Arg) c.5804A>G (p.Gln1935Arg) c.5867A>G (p.Gln1956Arg) c.5837A>G (p.Gln1946Arg) c.5909A>G (p.Gln1970Arg) | dbSNP gnomAD v4 |
| 3 | g.38550406T>G | CA352139280 | SCN5A | c.5963A>C (p.Gln1988Pro) c.5966A>C (p.Gln1989Pro) c.5912A>C (p.Gln1971Pro) c.5804A>C (p.Gln1935Pro) c.5867A>C (p.Gln1956Pro) c.5837A>C (p.Gln1946Pro) c.5909A>C (p.Gln1970Pro) | |
| 3 | g.38550406T= | CA1358555691 | SCN5A | c.5963A= (p.Gln1988=) c.5966A= (p.Gln1989=) c.5912A= (p.Gln1971=) c.5804A= (p.Gln1935=) c.5867A= (p.Gln1956=) c.5837A= (p.Gln1946=) c.5909A= (p.Gln1970=) | |
| 3 | g.38550407G>A | CA352139285 | SCN5A | c.5962C>T (p.Gln1988Ter) c.5965C>T (p.Gln1989Ter) c.5911C>T (p.Gln1971Ter) c.5803C>T (p.Gln1935Ter) c.5866C>T (p.Gln1956Ter) c.5836C>T (p.Gln1946Ter) c.5908C>T (p.Gln1970Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550407G>C | CA352139287 | SCN5A | c.5962C>G (p.Gln1988Glu) c.5965C>G (p.Gln1989Glu) c.5911C>G (p.Gln1971Glu) c.5803C>G (p.Gln1935Glu) c.5866C>G (p.Gln1956Glu) c.5836C>G (p.Gln1946Glu) c.5908C>G (p.Gln1970Glu) | gnomAD v4 |
| 3 | g.38550407G>T | CA352139288 | SCN5A | c.5962C>A (p.Gln1988Lys) c.5965C>A (p.Gln1989Lys) c.5911C>A (p.Gln1971Lys) c.5803C>A (p.Gln1935Lys) c.5866C>A (p.Gln1956Lys) c.5836C>A (p.Gln1946Lys) c.5908C>A (p.Gln1970Lys) | |
| 3 | g.38550408G>A | CA065073 | SCN5A | c.5961C>T (p.Leu1987=) c.5964C>T (p.Leu1988=) c.5910C>T (p.Leu1970=) c.5802C>T (p.Leu1934=) c.5865C>T (p.Leu1955=) c.5835C>T (p.Leu1945=) c.5907C>T (p.Leu1969=) | dbSNP ExAC gnomAD v2 |
| 3 | g.38550408G>C | CA433331405 | SCN5A | c.5961C>G (p.Leu1987=) c.5964C>G (p.Leu1988=) c.5910C>G (p.Leu1970=) c.5802C>G (p.Leu1934=) c.5865C>G (p.Leu1955=) c.5835C>G (p.Leu1945=) c.5907C>G (p.Leu1969=) | |
| 3 | g.38550408G= | CA1358555695 | SCN5A | c.5961C= (p.Leu1987=) c.5964C= (p.Leu1988=) c.5910C= (p.Leu1970=) c.5802C= (p.Leu1934=) c.5865C= (p.Leu1955=) c.5835C= (p.Leu1945=) c.5907C= (p.Leu1969=) | |
| 3 | g.38550408G>T | CA433331406 | SCN5A | c.5961C>A (p.Leu1987=) c.5964C>A (p.Leu1988=) c.5910C>A (p.Leu1970=) c.5802C>A (p.Leu1934=) c.5865C>A (p.Leu1955=) c.5835C>A (p.Leu1945=) c.5907C>A (p.Leu1969=) | |
| 3 | g.38550409del | CA2665106293 | SCN5A | c.5960del (p.Leu1987ProfsTer?) c.5963del (p.Leu1988ProfsTer?) c.5909del (p.Leu1970ProfsTer?) c.5801del (p.Leu1934ProfsTer?) c.5864del (p.Leu1955ProfsTer?) c.5834del (p.Leu1945ProfsTer?) c.5906del (p.Leu1969ProfsTer?) | gnomAD v4 |
| 3 | g.38550409A= | CA1358555699 | SCN5A | c.5960T= (p.Leu1987=) c.5963T= (p.Leu1988=) c.5909T= (p.Leu1970=) c.5801T= (p.Leu1934=) c.5864T= (p.Leu1955=) c.5834T= (p.Leu1945=) c.5906T= (p.Leu1969=) | |
| 3 | g.38550409A>C | CA019559 | SCN5A | c.5960T>G (p.Leu1987Arg) c.5963T>G (p.Leu1988Arg) c.5909T>G (p.Leu1970Arg) c.5801T>G (p.Leu1934Arg) c.5864T>G (p.Leu1955Arg) c.5834T>G (p.Leu1945Arg) c.5906T>G (p.Leu1969Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550409A>G | CA352139290 | SCN5A | c.5960T>C (p.Leu1987Pro) c.5963T>C (p.Leu1988Pro) c.5909T>C (p.Leu1970Pro) c.5801T>C (p.Leu1934Pro) c.5864T>C (p.Leu1955Pro) c.5834T>C (p.Leu1945Pro) c.5906T>C (p.Leu1969Pro) | ClinVar gnomAD v4 |
| 3 | g.38550409A>T | CA352139293 | SCN5A | c.5960T>A (p.Leu1987His) c.5963T>A (p.Leu1988His) c.5909T>A (p.Leu1970His) c.5801T>A (p.Leu1934His) c.5864T>A (p.Leu1955His) c.5834T>A (p.Leu1945His) c.5906T>A (p.Leu1969His) | gnomAD v4 |
| 3 | g.38550410G>A | CA352139295 | SCN5A | c.5959C>T (p.Leu1987Phe) c.5962C>T (p.Leu1988Phe) c.5908C>T (p.Leu1970Phe) c.5800C>T (p.Leu1934Phe) c.5863C>T (p.Leu1955Phe) c.5833C>T (p.Leu1945Phe) c.5905C>T (p.Leu1969Phe) | gnomAD v4 |
| 3 | g.38550410G>C | CA352139296 | SCN5A | c.5959C>G (p.Leu1987Val) c.5962C>G (p.Leu1988Val) c.5908C>G (p.Leu1970Val) c.5800C>G (p.Leu1934Val) c.5863C>G (p.Leu1955Val) c.5833C>G (p.Leu1945Val) c.5905C>G (p.Leu1969Val) | |
| 3 | g.38550410G>T | CA352139299 | SCN5A | c.5959C>A (p.Leu1987Ile) c.5962C>A (p.Leu1988Ile) c.5908C>A (p.Leu1970Ile) c.5800C>A (p.Leu1934Ile) c.5863C>A (p.Leu1955Ile) c.5833C>A (p.Leu1945Ile) c.5905C>A (p.Leu1969Ile) | |
| 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) |