UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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) | |
| 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=) | |
| 3 | g.38550424G>T | CA352139355 | SCN5A | c.5945C>A (p.Ala1982Asp) c.5948C>A (p.Ala1983Asp) c.5894C>A (p.Ala1965Asp) c.5786C>A (p.Ala1929Asp) c.5849C>A (p.Ala1950Asp) c.5819C>A (p.Ala1940Asp) c.5891C>A (p.Ala1964Asp) | |
| 3 | g.38550425C>A | CA352139357 | SCN5A | c.5944G>T (p.Ala1982Ser) c.5947G>T (p.Ala1983Ser) c.5893G>T (p.Ala1965Ser) c.5785G>T (p.Ala1929Ser) c.5848G>T (p.Ala1950Ser) c.5818G>T (p.Ala1940Ser) c.5890G>T (p.Ala1964Ser) | |
| 3 | g.38550425C>G | CA352139361 | SCN5A | c.5944G>C (p.Ala1982Pro) c.5947G>C (p.Ala1983Pro) c.5893G>C (p.Ala1965Pro) c.5785G>C (p.Ala1929Pro) c.5848G>C (p.Ala1950Pro) c.5818G>C (p.Ala1940Pro) c.5890G>C (p.Ala1964Pro) | |
| 3 | g.38550425C>T | CA352139359 | SCN5A | c.5944G>A (p.Ala1982Thr) c.5947G>A (p.Ala1983Thr) c.5893G>A (p.Ala1965Thr) c.5785G>A (p.Ala1929Thr) c.5848G>A (p.Ala1950Thr) c.5818G>A (p.Ala1940Thr) c.5890G>A (p.Ala1964Thr) | gnomAD v4 |
| 3 | g.38550426T>A | CA352139363 | SCN5A | c.5943A>T (p.Arg1981Ser) c.5946A>T (p.Arg1982Ser) c.5892A>T (p.Arg1964Ser) c.5784A>T (p.Arg1928Ser) c.5847A>T (p.Arg1949Ser) c.5817A>T (p.Arg1939Ser) c.5889A>T (p.Arg1963Ser) | |
| 3 | g.38550426T>C | CA433331414 | SCN5A | c.5943A>G (p.Arg1981=) c.5946A>G (p.Arg1982=) c.5892A>G (p.Arg1964=) c.5784A>G (p.Arg1928=) c.5847A>G (p.Arg1949=) c.5817A>G (p.Arg1939=) c.5889A>G (p.Arg1963=) | |
| 3 | g.38550426T>G | CA352139365 | SCN5A | c.5943A>C (p.Arg1981Ser) c.5946A>C (p.Arg1982Ser) c.5892A>C (p.Arg1964Ser) c.5784A>C (p.Arg1928Ser) c.5847A>C (p.Arg1949Ser) c.5817A>C (p.Arg1939Ser) c.5889A>C (p.Arg1963Ser) | |
| 3 | g.38550427C>A | CA10618414 | SCN5A | c.5942G>T (p.Arg1981Ile) c.5945G>T (p.Arg1982Ile) c.5891G>T (p.Arg1964Ile) c.5783G>T (p.Arg1928Ile) c.5846G>T (p.Arg1949Ile) c.5816G>T (p.Arg1939Ile) c.5888G>T (p.Arg1963Ile) | ClinVar dbSNP |
| 3 | g.38550427C= | CA1358555739 | SCN5A | c.5942G= (p.Arg1981=) c.5945G= (p.Arg1982=) c.5891G= (p.Arg1964=) c.5783G= (p.Arg1928=) c.5846G= (p.Arg1949=) c.5816G= (p.Arg1939=) c.5888G= (p.Arg1963=) | |
| 3 | g.38550427C>G | CA065035 | SCN5A | c.5942G>C (p.Arg1981Thr) c.5945G>C (p.Arg1982Thr) c.5891G>C (p.Arg1964Thr) c.5783G>C (p.Arg1928Thr) c.5846G>C (p.Arg1949Thr) c.5816G>C (p.Arg1939Thr) c.5888G>C (p.Arg1963Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550427C>T | CA352139367 | SCN5A | c.5942G>A (p.Arg1981Lys) c.5945G>A (p.Arg1982Lys) c.5891G>A (p.Arg1964Lys) c.5783G>A (p.Arg1928Lys) c.5846G>A (p.Arg1949Lys) c.5816G>A (p.Arg1939Lys) c.5888G>A (p.Arg1963Lys) | |
| 3 | g.38550428T>A | CA352139369 | SCN5A | c.5941A>T (p.Arg1981Ter) c.5944A>T (p.Arg1982Ter) c.5890A>T (p.Arg1964Ter) c.5782A>T (p.Arg1928Ter) c.5845A>T (p.Arg1949Ter) c.5815A>T (p.Arg1939Ter) c.5887A>T (p.Arg1963Ter) | dbSNP |
| 3 | g.38550428T>C | CA352139371 | SCN5A | c.5941A>G (p.Arg1981Gly) c.5944A>G (p.Arg1982Gly) c.5890A>G (p.Arg1964Gly) c.5782A>G (p.Arg1928Gly) c.5845A>G (p.Arg1949Gly) c.5815A>G (p.Arg1939Gly) c.5887A>G (p.Arg1963Gly) | |
| 3 | g.38550428T>G | CA433331415 | SCN5A | c.5941A>C (p.Arg1981=) c.5944A>C (p.Arg1982=) c.5890A>C (p.Arg1964=) c.5782A>C (p.Arg1928=) c.5845A>C (p.Arg1949=) c.5815A>C (p.Arg1939=) c.5887A>C (p.Arg1963=) | |
| 3 | g.38550428T= | CA1358555745 | SCN5A | c.5941A= (p.Arg1981=) c.5944A= (p.Arg1982=) c.5890A= (p.Arg1964=) c.5782A= (p.Arg1928=) c.5845A= (p.Arg1949=) c.5815A= (p.Arg1939=) c.5887A= (p.Arg1963=) | |
| 3 | g.38550429A= | CA1358555747 | SCN5A | c.5940T= (p.Thr1980=) c.5943T= (p.Thr1981=) c.5889T= (p.Thr1963=) c.5781T= (p.Thr1927=) c.5844T= (p.Thr1948=) c.5814T= (p.Thr1938=) c.5886T= (p.Thr1962=) | |
| 3 | g.38550429A>C | CA433331416 | SCN5A | c.5940T>G (p.Thr1980=) c.5943T>G (p.Thr1981=) c.5889T>G (p.Thr1963=) c.5781T>G (p.Thr1927=) c.5844T>G (p.Thr1948=) c.5814T>G (p.Thr1938=) c.5886T>G (p.Thr1962=) | |
| 3 | g.38550429A>G | CA433331417 | SCN5A | c.5940T>C (p.Thr1980=) c.5943T>C (p.Thr1981=) c.5889T>C (p.Thr1963=) c.5781T>C (p.Thr1927=) c.5844T>C (p.Thr1948=) c.5814T>C (p.Thr1938=) c.5886T>C (p.Thr1962=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550429A>T | CA433331418 | SCN5A | c.5940T>A (p.Thr1980=) c.5943T>A (p.Thr1981=) c.5889T>A (p.Thr1963=) c.5781T>A (p.Thr1927=) c.5844T>A (p.Thr1948=) c.5814T>A (p.Thr1938=) c.5886T>A (p.Thr1962=) | |
| 3 | g.38550430G>A | CA352139373 | SCN5A | c.5939C>T (p.Thr1980Ile) c.5942C>T (p.Thr1981Ile) c.5888C>T (p.Thr1963Ile) c.5780C>T (p.Thr1927Ile) c.5843C>T (p.Thr1948Ile) c.5813C>T (p.Thr1938Ile) c.5885C>T (p.Thr1962Ile) | |
| 3 | g.38550430G>C | CA72937680 | SCN5A | c.5939C>G (p.Thr1980Ser) c.5942C>G (p.Thr1981Ser) c.5888C>G (p.Thr1963Ser) c.5780C>G (p.Thr1927Ser) c.5843C>G (p.Thr1948Ser) c.5813C>G (p.Thr1938Ser) c.5885C>G (p.Thr1962Ser) | dbSNP |
| 3 | g.38550430G= | CA1358555749 | SCN5A | c.5939C= (p.Thr1980=) c.5942C= (p.Thr1981=) c.5888C= (p.Thr1963=) c.5780C= (p.Thr1927=) c.5843C= (p.Thr1948=) c.5813C= (p.Thr1938=) c.5885C= (p.Thr1962=) | |
| 3 | g.38550430G>T | CA352139376 | SCN5A | c.5939C>A (p.Thr1980Asn) c.5942C>A (p.Thr1981Asn) c.5888C>A (p.Thr1963Asn) c.5780C>A (p.Thr1927Asn) c.5843C>A (p.Thr1948Asn) c.5813C>A (p.Thr1938Asn) c.5885C>A (p.Thr1962Asn) | |
| 3 | g.38550431T>A | CA352139382 | SCN5A | c.5938A>T (p.Thr1980Ser) c.5941A>T (p.Thr1981Ser) c.5887A>T (p.Thr1963Ser) c.5779A>T (p.Thr1927Ser) c.5842A>T (p.Thr1948Ser) c.5812A>T (p.Thr1938Ser) c.5884A>T (p.Thr1962Ser) | |
| 3 | g.38550431T>C | CA352139380 | SCN5A | c.5938A>G (p.Thr1980Ala) c.5941A>G (p.Thr1981Ala) c.5887A>G (p.Thr1963Ala) c.5779A>G (p.Thr1927Ala) c.5842A>G (p.Thr1948Ala) c.5812A>G (p.Thr1938Ala) c.5884A>G (p.Thr1962Ala) | ClinVar dbSNP |
| 3 | g.38550431T>G | CA352139378 | SCN5A | c.5938A>C (p.Thr1980Pro) c.5941A>C (p.Thr1981Pro) c.5887A>C (p.Thr1963Pro) c.5779A>C (p.Thr1927Pro) c.5842A>C (p.Thr1948Pro) c.5812A>C (p.Thr1938Pro) c.5884A>C (p.Thr1962Pro) | |
| 3 | g.38550431T= | CA1358555750 | SCN5A | c.5938A= (p.Thr1980=) c.5941A= (p.Thr1981=) c.5887A= (p.Thr1963=) c.5779A= (p.Thr1927=) c.5842A= (p.Thr1948=) c.5812A= (p.Thr1938=) c.5884A= (p.Thr1962=) | |
| 3 | g.38550432G>A | CA433331419 | SCN5A | c.5937C>T (p.Val1979=) c.5940C>T (p.Val1980=) c.5886C>T (p.Val1962=) c.5778C>T (p.Val1926=) c.5841C>T (p.Val1947=) c.5811C>T (p.Val1937=) c.5883C>T (p.Val1961=) | |
| 3 | g.38550432G>C | CA065030 | SCN5A | c.5937C>G (p.Val1979=) c.5940C>G (p.Val1980=) c.5886C>G (p.Val1962=) c.5778C>G (p.Val1926=) c.5841C>G (p.Val1947=) c.5811C>G (p.Val1937=) c.5883C>G (p.Val1961=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550432G= | CA1358555754 | SCN5A | c.5937C= (p.Val1979=) c.5940C= (p.Val1980=) c.5886C= (p.Val1962=) c.5778C= (p.Val1926=) c.5841C= (p.Val1947=) c.5811C= (p.Val1937=) c.5883C= (p.Val1961=) | |
| 3 | g.38550432G>T | CA433331420 | SCN5A | c.5937C>A (p.Val1979=) c.5940C>A (p.Val1980=) c.5886C>A (p.Val1962=) c.5778C>A (p.Val1926=) c.5841C>A (p.Val1947=) c.5811C>A (p.Val1937=) c.5883C>A (p.Val1961=) | gnomAD v4 |
| 3 | g.38550433A>C | CA352139385 | SCN5A | c.5936T>G (p.Val1979Gly) c.5939T>G (p.Val1980Gly) c.5885T>G (p.Val1962Gly) c.5777T>G (p.Val1926Gly) c.5840T>G (p.Val1947Gly) c.5810T>G (p.Val1937Gly) c.5882T>G (p.Val1961Gly) | |
| 3 | g.38550433A>G | CA352139387 | SCN5A | c.5936T>C (p.Val1979Ala) c.5939T>C (p.Val1980Ala) c.5885T>C (p.Val1962Ala) c.5777T>C (p.Val1926Ala) c.5840T>C (p.Val1947Ala) c.5810T>C (p.Val1937Ala) c.5882T>C (p.Val1961Ala) | |
| 3 | g.38550433A>T | CA352139388 | SCN5A | c.5936T>A (p.Val1979Asp) c.5939T>A (p.Val1980Asp) c.5885T>A (p.Val1962Asp) c.5777T>A (p.Val1926Asp) c.5840T>A (p.Val1947Asp) c.5810T>A (p.Val1937Asp) c.5882T>A (p.Val1961Asp) | |
| 3 | g.38550434C>A | CA065024 | SCN5A | c.5935G>T (p.Val1979Phe) c.5938G>T (p.Val1980Phe) c.5884G>T (p.Val1962Phe) c.5776G>T (p.Val1926Phe) c.5839G>T (p.Val1947Phe) c.5809G>T (p.Val1937Phe) c.5881G>T (p.Val1961Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550434C= | CA1358555758 | SCN5A | c.5935G= (p.Val1979=) c.5938G= (p.Val1980=) c.5884G= (p.Val1962=) c.5776G= (p.Val1926=) c.5839G= (p.Val1947=) c.5809G= (p.Val1937=) c.5881G= (p.Val1961=) | |
| 3 | g.38550434C>G | CA352139391 | SCN5A | c.5935G>C (p.Val1979Leu) c.5938G>C (p.Val1980Leu) c.5884G>C (p.Val1962Leu) c.5776G>C (p.Val1926Leu) c.5839G>C (p.Val1947Leu) c.5809G>C (p.Val1937Leu) c.5881G>C (p.Val1961Leu) | dbSNP gnomAD v2 |
| 3 | g.38550434C>T | CA352139393 | SCN5A | c.5935G>A (p.Val1979Ile) c.5938G>A (p.Val1980Ile) c.5884G>A (p.Val1962Ile) c.5776G>A (p.Val1926Ile) c.5839G>A (p.Val1947Ile) c.5809G>A (p.Val1937Ile) c.5881G>A (p.Val1961Ile) | |
| 3 | g.38550435A>C | CA352139394 | SCN5A | c.5934T>G (p.Ser1978Arg) c.5937T>G (p.Ser1979Arg) c.5883T>G (p.Ser1961Arg) c.5775T>G (p.Ser1925Arg) c.5838T>G (p.Ser1946Arg) c.5808T>G (p.Ser1936Arg) c.5880T>G (p.Ser1960Arg) | |
| 3 | g.38550435A>G | CA433331421 | SCN5A | c.5934T>C (p.Ser1978=) c.5937T>C (p.Ser1979=) c.5883T>C (p.Ser1961=) c.5775T>C (p.Ser1925=) c.5838T>C (p.Ser1946=) c.5808T>C (p.Ser1936=) c.5880T>C (p.Ser1960=) | gnomAD v4 |
| 3 | g.38550435A>T | CA352139396 | SCN5A | c.5934T>A (p.Ser1978Arg) c.5937T>A (p.Ser1979Arg) c.5883T>A (p.Ser1961Arg) c.5775T>A (p.Ser1925Arg) c.5838T>A (p.Ser1946Arg) c.5808T>A (p.Ser1936Arg) c.5880T>A (p.Ser1960Arg) | |
| 3 | g.38550436C>A | CA352139398 | SCN5A | c.5933G>T (p.Ser1978Ile) c.5936G>T (p.Ser1979Ile) c.5882G>T (p.Ser1961Ile) c.5774G>T (p.Ser1925Ile) c.5837G>T (p.Ser1946Ile) c.5807G>T (p.Ser1936Ile) c.5879G>T (p.Ser1960Ile) | ClinVar gnomAD v4 |
| 3 | g.38550436C= | CA1358555762 | SCN5A | c.5933G= (p.Ser1978=) c.5936G= (p.Ser1979=) c.5882G= (p.Ser1961=) c.5774G= (p.Ser1925=) c.5837G= (p.Ser1946=) c.5807G= (p.Ser1936=) c.5879G= (p.Ser1960=) | |
| 3 | g.38550436C>G | CA352139400 | SCN5A | c.5933G>C (p.Ser1978Thr) c.5936G>C (p.Ser1979Thr) c.5882G>C (p.Ser1961Thr) c.5774G>C (p.Ser1925Thr) c.5837G>C (p.Ser1946Thr) c.5807G>C (p.Ser1936Thr) c.5879G>C (p.Ser1960Thr) | |
| 3 | g.38550436C>T | CA352139401 | SCN5A | c.5933G>A (p.Ser1978Asn) c.5936G>A (p.Ser1979Asn) c.5882G>A (p.Ser1961Asn) c.5774G>A (p.Ser1925Asn) c.5837G>A (p.Ser1946Asn) c.5807G>A (p.Ser1936Asn) c.5879G>A (p.Ser1960Asn) | dbSNP |
| 3 | g.38550436_38550438delinsCTG | CA1358555761 | SCN5A | c.5931_5933delinsCAG (p.Asp1977=) c.5934_5936delinsCAG (p.Asp1978=) c.5880_5882delinsCAG (p.Asp1960=) c.5772_5774delinsCAG (p.Asp1924=) c.5835_5837delinsCAG (p.Asp1945=) c.5805_5807delinsCAG (p.Asp1935=) c.5877_5879delinsCAG (p.Asp1959=) | |
| 3 | g.38550437T>A | CA019547 | SCN5A | c.5932A>T (p.Ser1978Cys) c.5935A>T (p.Ser1979Cys) c.5881A>T (p.Ser1961Cys) c.5773A>T (p.Ser1925Cys) c.5836A>T (p.Ser1946Cys) c.5806A>T (p.Ser1936Cys) c.5878A>T (p.Ser1960Cys) | ClinVar dbSNP |
| 3 | g.38550437T>C | CA352139405 | SCN5A | c.5932A>G (p.Ser1978Gly) c.5935A>G (p.Ser1979Gly) c.5881A>G (p.Ser1961Gly) c.5773A>G (p.Ser1925Gly) c.5836A>G (p.Ser1946Gly) c.5806A>G (p.Ser1936Gly) c.5878A>G (p.Ser1960Gly) | |
| 3 | g.38550437T>G | CA352139403 | SCN5A | c.5932A>C (p.Ser1978Arg) c.5935A>C (p.Ser1979Arg) c.5881A>C (p.Ser1961Arg) c.5773A>C (p.Ser1925Arg) c.5836A>C (p.Ser1946Arg) c.5806A>C (p.Ser1936Arg) c.5878A>C (p.Ser1960Arg) | |
| 3 | g.38550437T= | CA1358555766 | SCN5A | c.5932A= (p.Ser1978=) c.5935A= (p.Ser1979=) c.5881A= (p.Ser1961=) c.5773A= (p.Ser1925=) c.5836A= (p.Ser1946=) c.5806A= (p.Ser1936=) c.5878A= (p.Ser1960=) | |
| 3 | g.38550438_38550439del | CA906906287 | SCN5A | c.5931_5932del (p.Asp1977GlufsTer4) c.5934_5935del (p.Asp1978GlufsTer4) c.5880_5881del (p.Asp1960GlufsTer4) c.5772_5773del (p.Asp1924GlufsTer4) c.5835_5836del (p.Asp1945GlufsTer4) c.5805_5806del (p.Asp1935GlufsTer4) c.5877_5878del (p.Asp1959GlufsTer4) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550438G>A | CA065017 | SCN5A | c.5931C>T (p.Asp1977=) c.5934C>T (p.Asp1978=) c.5880C>T (p.Asp1960=) c.5772C>T (p.Asp1924=) c.5835C>T (p.Asp1945=) c.5805C>T (p.Asp1935=) c.5877C>T (p.Asp1959=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550438G>C | CA352139407 | SCN5A | c.5931C>G (p.Asp1977Glu) c.5934C>G (p.Asp1978Glu) c.5880C>G (p.Asp1960Glu) c.5772C>G (p.Asp1924Glu) c.5835C>G (p.Asp1945Glu) c.5805C>G (p.Asp1935Glu) c.5877C>G (p.Asp1959Glu) | |
| 3 | g.38550438G= | CA1358555771 | SCN5A | c.5931C= (p.Asp1977=) c.5934C= (p.Asp1978=) c.5880C= (p.Asp1960=) c.5772C= (p.Asp1924=) c.5835C= (p.Asp1945=) c.5805C= (p.Asp1935=) c.5877C= (p.Asp1959=) | |
| 3 | g.38550438G>T | CA352139408 | SCN5A | c.5931C>A (p.Asp1977Glu) c.5934C>A (p.Asp1978Glu) c.5880C>A (p.Asp1960Glu) c.5772C>A (p.Asp1924Glu) c.5835C>A (p.Asp1945Glu) c.5805C>A (p.Asp1935Glu) c.5877C>A (p.Asp1959Glu) | |
| 3 | g.38550439T>A | CA352139410 | SCN5A | c.5930A>T (p.Asp1977Val) c.5933A>T (p.Asp1978Val) c.5879A>T (p.Asp1960Val) c.5771A>T (p.Asp1924Val) c.5834A>T (p.Asp1945Val) c.5804A>T (p.Asp1935Val) c.5876A>T (p.Asp1959Val) | ClinVar dbSNP |
| 3 | g.38550439T>C | CA352139411 | SCN5A | c.5930A>G (p.Asp1977Gly) c.5933A>G (p.Asp1978Gly) c.5879A>G (p.Asp1960Gly) c.5771A>G (p.Asp1924Gly) c.5834A>G (p.Asp1945Gly) c.5804A>G (p.Asp1935Gly) c.5876A>G (p.Asp1959Gly) | |
| 3 | g.38550439T>G | CA352139412 | SCN5A | c.5930A>C (p.Asp1977Ala) c.5933A>C (p.Asp1978Ala) c.5879A>C (p.Asp1960Ala) c.5771A>C (p.Asp1924Ala) c.5834A>C (p.Asp1945Ala) c.5804A>C (p.Asp1935Ala) c.5876A>C (p.Asp1959Ala) | |
| 3 | g.38550439T= | CA1358555773 | SCN5A | c.5930A= (p.Asp1977=) c.5933A= (p.Asp1978=) c.5879A= (p.Asp1960=) c.5771A= (p.Asp1924=) c.5834A= (p.Asp1945=) c.5804A= (p.Asp1935=) c.5876A= (p.Asp1959=) | |
| 3 | g.38550440C>A | CA352139413 | SCN5A | c.5929G>T (p.Asp1977Tyr) c.5932G>T (p.Asp1978Tyr) c.5878G>T (p.Asp1960Tyr) c.5770G>T (p.Asp1924Tyr) c.5833G>T (p.Asp1945Tyr) c.5803G>T (p.Asp1935Tyr) c.5875G>T (p.Asp1959Tyr) | gnomAD v4 |
| 3 | g.38550440C= | CA1358555775 | SCN5A | c.5929G= (p.Asp1977=) c.5932G= (p.Asp1978=) c.5878G= (p.Asp1960=) c.5770G= (p.Asp1924=) c.5833G= (p.Asp1945=) c.5803G= (p.Asp1935=) c.5875G= (p.Asp1959=) | |
| 3 | g.38550440C>G | CA065011 | SCN5A | c.5929G>C (p.Asp1977His) c.5932G>C (p.Asp1978His) c.5878G>C (p.Asp1960His) c.5770G>C (p.Asp1924His) c.5833G>C (p.Asp1945His) c.5803G>C (p.Asp1935His) c.5875G>C (p.Asp1959His) | dbSNP ExAC gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550440C>T | CA352139415 | SCN5A | c.5929G>A (p.Asp1977Asn) c.5932G>A (p.Asp1978Asn) c.5878G>A (p.Asp1960Asn) c.5770G>A (p.Asp1924Asn) c.5833G>A (p.Asp1945Asn) c.5803G>A (p.Asp1935Asn) c.5875G>A (p.Asp1959Asn) | dbSNP |
| 3 | g.38550441A>C | CA352139418 | SCN5A | c.5928T>G (p.Tyr1976Ter) c.5931T>G (p.Tyr1977Ter) c.5877T>G (p.Tyr1959Ter) c.5769T>G (p.Tyr1923Ter) c.5832T>G (p.Tyr1944Ter) c.5802T>G (p.Tyr1934Ter) c.5874T>G (p.Tyr1958Ter) | |
| 3 | g.38550441A>G | CA433331422 | SCN5A | c.5928T>C (p.Tyr1976=) c.5931T>C (p.Tyr1977=) c.5877T>C (p.Tyr1959=) c.5769T>C (p.Tyr1923=) c.5832T>C (p.Tyr1944=) c.5802T>C (p.Tyr1934=) c.5874T>C (p.Tyr1958=) | gnomAD v4 |
| 3 | g.38550441A>T | CA352139419 | SCN5A | c.5928T>A (p.Tyr1976Ter) c.5931T>A (p.Tyr1977Ter) c.5877T>A (p.Tyr1959Ter) c.5769T>A (p.Tyr1923Ter) c.5832T>A (p.Tyr1944Ter) c.5802T>A (p.Tyr1934Ter) c.5874T>A (p.Tyr1958Ter) | |
| 3 | g.38550442T>A | CA352139421 | SCN5A | c.5927A>T (p.Tyr1976Phe) c.5930A>T (p.Tyr1977Phe) c.5876A>T (p.Tyr1959Phe) c.5768A>T (p.Tyr1923Phe) c.5831A>T (p.Tyr1944Phe) c.5801A>T (p.Tyr1934Phe) c.5873A>T (p.Tyr1958Phe) | |
| 3 | g.38550442T>C | CA352139423 | SCN5A | c.5927A>G (p.Tyr1976Cys) c.5930A>G (p.Tyr1977Cys) c.5876A>G (p.Tyr1959Cys) c.5768A>G (p.Tyr1923Cys) c.5831A>G (p.Tyr1944Cys) c.5801A>G (p.Tyr1934Cys) c.5873A>G (p.Tyr1958Cys) | |
| 3 | g.38550442T>G | CA352139425 | SCN5A | c.5927A>C (p.Tyr1976Ser) c.5930A>C (p.Tyr1977Ser) c.5876A>C (p.Tyr1959Ser) c.5768A>C (p.Tyr1923Ser) c.5831A>C (p.Tyr1944Ser) c.5801A>C (p.Tyr1934Ser) c.5873A>C (p.Tyr1958Ser) | |
| 3 | g.38550443A= | CA1358555779 | SCN5A | c.5926T= (p.Tyr1976=) c.5929T= (p.Tyr1977=) c.5875T= (p.Tyr1959=) c.5767T= (p.Tyr1923=) c.5830T= (p.Tyr1944=) c.5800T= (p.Tyr1934=) c.5872T= (p.Tyr1958=) | |
| 3 | g.38550443A>C | CA352139429 | SCN5A | c.5926T>G (p.Tyr1976Asp) c.5929T>G (p.Tyr1977Asp) c.5875T>G (p.Tyr1959Asp) c.5767T>G (p.Tyr1923Asp) c.5830T>G (p.Tyr1944Asp) c.5800T>G (p.Tyr1934Asp) c.5872T>G (p.Tyr1958Asp) | |
| 3 | g.38550443A>G | CA352139427 | SCN5A | c.5926T>C (p.Tyr1976His) c.5929T>C (p.Tyr1977His) c.5875T>C (p.Tyr1959His) c.5767T>C (p.Tyr1923His) c.5830T>C (p.Tyr1944His) c.5800T>C (p.Tyr1934His) c.5872T>C (p.Tyr1958His) | |
| 3 | g.38550443A>T | CA019544 | SCN5A | c.5926T>A (p.Tyr1976Asn) c.5929T>A (p.Tyr1977Asn) c.5875T>A (p.Tyr1959Asn) c.5767T>A (p.Tyr1923Asn) c.5830T>A (p.Tyr1944Asn) c.5800T>A (p.Tyr1934Asn) c.5872T>A (p.Tyr1958Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550444G>A | CA433331423 | SCN5A | c.5925C>T (p.Ser1975=) c.5928C>T (p.Ser1976=) c.5874C>T (p.Ser1958=) c.5766C>T (p.Ser1922=) c.5829C>T (p.Ser1943=) c.5799C>T (p.Ser1933=) c.5871C>T (p.Ser1957=) | ClinVar dbSNP |
| 3 | g.38550444G>C | CA433331425 | SCN5A | c.5925C>G (p.Ser1975=) c.5928C>G (p.Ser1976=) c.5874C>G (p.Ser1958=) c.5766C>G (p.Ser1922=) c.5829C>G (p.Ser1943=) c.5799C>G (p.Ser1933=) c.5871C>G (p.Ser1957=) | |
| 3 | g.38550444G= | CA1358555784 | SCN5A | c.5925C= (p.Ser1975=) c.5928C= (p.Ser1976=) c.5874C= (p.Ser1958=) c.5766C= (p.Ser1922=) c.5829C= (p.Ser1943=) c.5799C= (p.Ser1933=) c.5871C= (p.Ser1957=) | |
| 3 | g.38550444G>T | CA433331424 | SCN5A | c.5925C>A (p.Ser1975=) c.5928C>A (p.Ser1976=) c.5874C>A (p.Ser1958=) c.5766C>A (p.Ser1922=) c.5829C>A (p.Ser1943=) c.5799C>A (p.Ser1933=) c.5871C>A (p.Ser1957=) | dbSNP |
| 3 | g.38550445G>A | CA352139431 | SCN5A | c.5924C>T (p.Ser1975Phe) c.5927C>T (p.Ser1976Phe) c.5873C>T (p.Ser1958Phe) c.5765C>T (p.Ser1922Phe) c.5828C>T (p.Ser1943Phe) c.5798C>T (p.Ser1933Phe) c.5870C>T (p.Ser1957Phe) | dbSNP gnomAD v4 |
| 3 | g.38550445G>C | CA352139432 | SCN5A | c.5924C>G (p.Ser1975Cys) c.5927C>G (p.Ser1976Cys) c.5873C>G (p.Ser1958Cys) c.5765C>G (p.Ser1922Cys) c.5828C>G (p.Ser1943Cys) c.5798C>G (p.Ser1933Cys) c.5870C>G (p.Ser1957Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550445G= | CA1358555787 | SCN5A | c.5924C= (p.Ser1975=) c.5927C= (p.Ser1976=) c.5873C= (p.Ser1958=) c.5765C= (p.Ser1922=) c.5828C= (p.Ser1943=) c.5798C= (p.Ser1933=) c.5870C= (p.Ser1957=) | |
| 3 | g.38550445G>T | CA352139434 | SCN5A | c.5924C>A (p.Ser1975Tyr) c.5927C>A (p.Ser1976Tyr) c.5873C>A (p.Ser1958Tyr) c.5765C>A (p.Ser1922Tyr) c.5828C>A (p.Ser1943Tyr) c.5798C>A (p.Ser1933Tyr) c.5870C>A (p.Ser1957Tyr) | dbSNP |
| 3 | g.38550446A= | CA1358555789 | SCN5A | c.5923T= (p.Ser1975=) c.5926T= (p.Ser1976=) c.5872T= (p.Ser1958=) c.5764T= (p.Ser1922=) c.5827T= (p.Ser1943=) c.5797T= (p.Ser1933=) c.5869T= (p.Ser1957=) | |
| 3 | g.38550446A>C | CA352139436 | SCN5A | c.5923T>G (p.Ser1975Ala) c.5926T>G (p.Ser1976Ala) c.5872T>G (p.Ser1958Ala) c.5764T>G (p.Ser1922Ala) c.5827T>G (p.Ser1943Ala) c.5797T>G (p.Ser1933Ala) c.5869T>G (p.Ser1957Ala) | ClinVar dbSNP |
| 3 | g.38550446A>G | CA352139438 | SCN5A | c.5923T>C (p.Ser1975Pro) c.5926T>C (p.Ser1976Pro) c.5872T>C (p.Ser1958Pro) c.5764T>C (p.Ser1922Pro) c.5827T>C (p.Ser1943Pro) c.5797T>C (p.Ser1933Pro) c.5869T>C (p.Ser1957Pro) | |
| 3 | g.38550446A>T | CA352139439 | SCN5A | c.5923T>A (p.Ser1975Thr) c.5926T>A (p.Ser1976Thr) c.5872T>A (p.Ser1958Thr) c.5764T>A (p.Ser1922Thr) c.5827T>A (p.Ser1943Thr) c.5797T>A (p.Ser1933Thr) c.5869T>A (p.Ser1957Thr) | |
| 3 | g.38550447G>A | CA433331426 | SCN5A | c.5922C>T (p.Pro1974=) c.5925C>T (p.Pro1975=) c.5871C>T (p.Pro1957=) c.5763C>T (p.Pro1921=) c.5826C>T (p.Pro1942=) c.5796C>T (p.Pro1932=) c.5868C>T (p.Pro1956=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550447G>C | CA433331427 | SCN5A | c.5922C>G (p.Pro1974=) c.5925C>G (p.Pro1975=) c.5871C>G (p.Pro1957=) c.5763C>G (p.Pro1921=) c.5826C>G (p.Pro1942=) c.5796C>G (p.Pro1932=) c.5868C>G (p.Pro1956=) | |
| 3 | g.38550447G>T | CA433331428 | SCN5A | c.5922C>A (p.Pro1974=) c.5925C>A (p.Pro1975=) c.5871C>A (p.Pro1957=) c.5763C>A (p.Pro1921=) c.5826C>A (p.Pro1942=) c.5796C>A (p.Pro1932=) c.5868C>A (p.Pro1956=) | |
| 3 | g.38550448G>A | CA72937689 | SCN5A | c.5921C>T (p.Pro1974Leu) c.5924C>T (p.Pro1975Leu) c.5870C>T (p.Pro1957Leu) c.5762C>T (p.Pro1921Leu) c.5825C>T (p.Pro1942Leu) c.5795C>T (p.Pro1932Leu) c.5867C>T (p.Pro1956Leu) | dbSNP |
| 3 | g.38550448G>C | CA352139442 | SCN5A | c.5921C>G (p.Pro1974Arg) c.5924C>G (p.Pro1975Arg) c.5870C>G (p.Pro1957Arg) c.5762C>G (p.Pro1921Arg) c.5825C>G (p.Pro1942Arg) c.5795C>G (p.Pro1932Arg) c.5867C>G (p.Pro1956Arg) | |
| 3 | g.38550448G= | CA1358555792 | SCN5A | c.5921C= (p.Pro1974=) c.5924C= (p.Pro1975=) c.5870C= (p.Pro1957=) c.5762C= (p.Pro1921=) c.5825C= (p.Pro1942=) c.5795C= (p.Pro1932=) c.5867C= (p.Pro1956=) | |
| 3 | g.38550448G>T | CA352139443 | SCN5A | c.5921C>A (p.Pro1974His) c.5924C>A (p.Pro1975His) c.5870C>A (p.Pro1957His) c.5762C>A (p.Pro1921His) c.5825C>A (p.Pro1942His) c.5795C>A (p.Pro1932His) c.5867C>A (p.Pro1956His) | |
| 3 | g.38550449G>A | CA352139445 | SCN5A | c.5920C>T (p.Pro1974Ser) c.5923C>T (p.Pro1975Ser) c.5869C>T (p.Pro1957Ser) c.5761C>T (p.Pro1921Ser) c.5824C>T (p.Pro1942Ser) c.5794C>T (p.Pro1932Ser) c.5866C>T (p.Pro1956Ser) | dbSNP |
| 3 | g.38550449G>C | CA352139447 | SCN5A | c.5920C>G (p.Pro1974Ala) c.5923C>G (p.Pro1975Ala) c.5869C>G (p.Pro1957Ala) c.5761C>G (p.Pro1921Ala) c.5824C>G (p.Pro1942Ala) c.5794C>G (p.Pro1932Ala) c.5866C>G (p.Pro1956Ala) | |
| 3 | g.38550449G= | CA1358555794 | SCN5A | c.5920C= (p.Pro1974=) c.5923C= (p.Pro1975=) c.5869C= (p.Pro1957=) c.5761C= (p.Pro1921=) c.5824C= (p.Pro1942=) c.5794C= (p.Pro1932=) c.5866C= (p.Pro1956=) | |
| 3 | g.38550449G>T | CA72937692 | SCN5A | c.5920C>A (p.Pro1974Thr) c.5923C>A (p.Pro1975Thr) c.5869C>A (p.Pro1957Thr) c.5761C>A (p.Pro1921Thr) c.5824C>A (p.Pro1942Thr) c.5794C>A (p.Pro1932Thr) c.5866C>A (p.Pro1956Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550450T>A | CA433331429 | SCN5A | c.5919A>T (p.Pro1973=) c.5922A>T (p.Pro1974=) c.5868A>T (p.Pro1956=) c.5760A>T (p.Pro1920=) c.5823A>T (p.Pro1941=) c.5793A>T (p.Pro1931=) c.5865A>T (p.Pro1955=) | |
| 3 | g.38550450T>C | CA433331430 | SCN5A | c.5919A>G (p.Pro1973=) c.5922A>G (p.Pro1974=) c.5868A>G (p.Pro1956=) c.5760A>G (p.Pro1920=) c.5823A>G (p.Pro1941=) c.5793A>G (p.Pro1931=) c.5865A>G (p.Pro1955=) | ClinVar |
| 3 | g.38550450T>G | CA433331431 | SCN5A | c.5919A>C (p.Pro1973=) c.5922A>C (p.Pro1974=) c.5868A>C (p.Pro1956=) c.5760A>C (p.Pro1920=) c.5823A>C (p.Pro1941=) c.5793A>C (p.Pro1931=) c.5865A>C (p.Pro1955=) | dbSNP gnomAD v4 |
| 3 | g.38550450T= | CA1358555796 | SCN5A | c.5919A= (p.Pro1973=) c.5922A= (p.Pro1974=) c.5868A= (p.Pro1956=) c.5760A= (p.Pro1920=) c.5823A= (p.Pro1941=) c.5793A= (p.Pro1931=) c.5865A= (p.Pro1955=) | |
| 3 | g.38550451G>A | CA352139451 | SCN5A | c.5918C>T (p.Pro1973Leu) c.5921C>T (p.Pro1974Leu) c.5867C>T (p.Pro1956Leu) c.5759C>T (p.Pro1920Leu) c.5822C>T (p.Pro1941Leu) c.5792C>T (p.Pro1931Leu) c.5864C>T (p.Pro1955Leu) | |
| 3 | g.38550451G>C | CA352139452 | SCN5A | c.5918C>G (p.Pro1973Arg) c.5921C>G (p.Pro1974Arg) c.5867C>G (p.Pro1956Arg) c.5759C>G (p.Pro1920Arg) c.5822C>G (p.Pro1941Arg) c.5792C>G (p.Pro1931Arg) c.5864C>G (p.Pro1955Arg) | |
| 3 | g.38550451G>T | CA352139449 | SCN5A | c.5918C>A (p.Pro1973Gln) c.5921C>A (p.Pro1974Gln) c.5867C>A (p.Pro1956Gln) c.5759C>A (p.Pro1920Gln) c.5822C>A (p.Pro1941Gln) c.5792C>A (p.Pro1931Gln) c.5864C>A (p.Pro1955Gln) | |
| 3 | g.38550452G>A | CA352139454 | SCN5A | c.5917C>T (p.Pro1973Ser) c.5920C>T (p.Pro1974Ser) c.5866C>T (p.Pro1956Ser) c.5758C>T (p.Pro1920Ser) c.5821C>T (p.Pro1941Ser) c.5791C>T (p.Pro1931Ser) c.5863C>T (p.Pro1955Ser) | gnomAD v4 |
| 3 | g.38550452G>C | CA352139457 | SCN5A | c.5917C>G (p.Pro1973Ala) c.5920C>G (p.Pro1974Ala) c.5866C>G (p.Pro1956Ala) c.5758C>G (p.Pro1920Ala) c.5821C>G (p.Pro1941Ala) c.5791C>G (p.Pro1931Ala) c.5863C>G (p.Pro1955Ala) | |
| 3 | g.38550452G>T | CA352139455 | SCN5A | c.5917C>A (p.Pro1973Thr) c.5920C>A (p.Pro1974Thr) c.5866C>A (p.Pro1956Thr) c.5758C>A (p.Pro1920Thr) c.5821C>A (p.Pro1941Thr) c.5791C>A (p.Pro1931Thr) c.5863C>A (p.Pro1955Thr) | |
| 3 | g.38550457_38550460del | CA2577552864 | SCN5A | c.5914_5917del (p.Phe1972HisfsTer?) c.5917_5920del (p.Phe1973HisfsTer?) c.5863_5866del (p.Phe1955HisfsTer?) c.5755_5758del (p.Phe1919HisfsTer?) c.5818_5821del (p.Phe1940HisfsTer?) c.5788_5791del (p.Phe1930HisfsTer?) c.5860_5863del (p.Phe1954HisfsTer?) | |
| 3 | g.38550453G>A | CA433331432 | SCN5A | c.5916C>T (p.Phe1972=) c.5919C>T (p.Phe1973=) c.5865C>T (p.Phe1955=) c.5757C>T (p.Phe1919=) c.5820C>T (p.Phe1940=) c.5790C>T (p.Phe1930=) c.5862C>T (p.Phe1954=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550453G>C | CA352139459 | SCN5A | c.5916C>G (p.Phe1972Leu) c.5919C>G (p.Phe1973Leu) c.5865C>G (p.Phe1955Leu) c.5757C>G (p.Phe1919Leu) c.5820C>G (p.Phe1940Leu) c.5790C>G (p.Phe1930Leu) c.5862C>G (p.Phe1954Leu) | |
| 3 | g.38550453G= | CA1358555798 | SCN5A | c.5916C= (p.Phe1972=) c.5919C= (p.Phe1973=) c.5865C= (p.Phe1955=) c.5757C= (p.Phe1919=) c.5820C= (p.Phe1940=) c.5790C= (p.Phe1930=) c.5862C= (p.Phe1954=) | |
| 3 | g.38550453G>T | CA352139461 | SCN5A | c.5916C>A (p.Phe1972Leu) c.5919C>A (p.Phe1973Leu) c.5865C>A (p.Phe1955Leu) c.5757C>A (p.Phe1919Leu) c.5820C>A (p.Phe1940Leu) c.5790C>A (p.Phe1930Leu) c.5862C>A (p.Phe1954Leu) | |
| 3 | g.38550454A= | CA1358555803 | SCN5A | c.5915T= (p.Phe1972=) c.5918T= (p.Phe1973=) c.5864T= (p.Phe1955=) c.5756T= (p.Phe1919=) c.5819T= (p.Phe1940=) c.5789T= (p.Phe1930=) c.5861T= (p.Phe1954=) | |
| 3 | g.38550454A>C | CA352139463 | SCN5A | c.5915T>G (p.Phe1972Cys) c.5918T>G (p.Phe1973Cys) c.5864T>G (p.Phe1955Cys) c.5756T>G (p.Phe1919Cys) c.5819T>G (p.Phe1940Cys) c.5789T>G (p.Phe1930Cys) c.5861T>G (p.Phe1954Cys) | |
| 3 | g.38550454A>G | CA16611366 | SCN5A | c.5915T>C (p.Phe1972Ser) c.5918T>C (p.Phe1973Ser) c.5864T>C (p.Phe1955Ser) c.5756T>C (p.Phe1919Ser) c.5819T>C (p.Phe1940Ser) c.5789T>C (p.Phe1930Ser) c.5861T>C (p.Phe1954Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550454A>T | CA352139465 | SCN5A | c.5915T>A (p.Phe1972Tyr) c.5918T>A (p.Phe1973Tyr) c.5864T>A (p.Phe1955Tyr) c.5756T>A (p.Phe1919Tyr) c.5819T>A (p.Phe1940Tyr) c.5789T>A (p.Phe1930Tyr) c.5861T>A (p.Phe1954Tyr) | |
| 3 | g.38550454_38550461dup | CA916079908 | SCN5A | c.5908_5915dup (p.Phe1972LeufsTer?) c.5911_5918dup (p.Phe1973LeufsTer?) c.5857_5864dup (p.Phe1955LeufsTer?) c.5749_5756dup (p.Phe1919LeufsTer?) c.5812_5819dup (p.Phe1940LeufsTer?) c.5782_5789dup (p.Phe1930LeufsTer?) c.5854_5861dup (p.Phe1954LeufsTer?) | ClinVar dbSNP |
| 3 | g.38550455A= | CA1358555808 | SCN5A | c.5914T= (p.Phe1972=) c.5917T= (p.Phe1973=) c.5863T= (p.Phe1955=) c.5755T= (p.Phe1919=) c.5818T= (p.Phe1940=) c.5788T= (p.Phe1930=) c.5860T= (p.Phe1954=) | |
| 3 | g.38550455A>C | CA352139467 | SCN5A | c.5914T>G (p.Phe1972Val) c.5917T>G (p.Phe1973Val) c.5863T>G (p.Phe1955Val) c.5755T>G (p.Phe1919Val) c.5818T>G (p.Phe1940Val) c.5788T>G (p.Phe1930Val) c.5860T>G (p.Phe1954Val) | |
| 3 | g.38550455A>G | CA065005 | SCN5A | c.5914T>C (p.Phe1972Leu) c.5917T>C (p.Phe1973Leu) c.5863T>C (p.Phe1955Leu) c.5755T>C (p.Phe1919Leu) c.5818T>C (p.Phe1940Leu) c.5788T>C (p.Phe1930Leu) c.5860T>C (p.Phe1954Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550455A>T | CA352139469 | SCN5A | c.5914T>A (p.Phe1972Ile) c.5917T>A (p.Phe1973Ile) c.5863T>A (p.Phe1955Ile) c.5755T>A (p.Phe1919Ile) c.5818T>A (p.Phe1940Ile) c.5788T>A (p.Phe1930Ile) c.5860T>A (p.Phe1954Ile) | |
| 3 | g.38550459_38550467del | CA2580069720 | SCN5A | c.5906_5914del (p.Ser1969_Ser1971del) c.5909_5917del (p.Ser1970_Ser1972del) c.5855_5863del (p.Ser1952_Ser1954del) c.5747_5755del (p.Ser1916_Ser1918del) c.5810_5818del (p.Ser1937_Ser1939del) c.5780_5788del (p.Ser1927_Ser1929del) c.5852_5860del (p.Ser1951_Ser1953del) | ClinVar |
| 3 | g.38550459_38550476dup | CA2755900265 | SCN5A | c.5897_5914dup (p.Ser1971_Phe1972insSerIleSerSerThrSer) c.5900_5917dup (p.Ser1972_Phe1973insSerIleSerSerThrSer) c.5846_5863dup (p.Ser1954_Phe1955insSerIleSerSerThrSer) c.5738_5755dup (p.Ser1918_Phe1919insSerIleSerSerThrSer) c.5801_5818dup (p.Ser1939_Phe1940insSerIleSerSerThrSer) c.5771_5788dup (p.Ser1929_Phe1930insSerIleSerSerThrSer) c.5843_5860dup (p.Ser1953_Phe1954insSerIleSerSerThrSer) | |
| 3 | g.38550456G>A | CA433331433 | SCN5A | c.5913C>T (p.Ser1971=) c.5916C>T (p.Ser1972=) c.5862C>T (p.Ser1954=) c.5754C>T (p.Ser1918=) c.5817C>T (p.Ser1939=) c.5787C>T (p.Ser1929=) c.5859C>T (p.Ser1953=) | ClinVar |
| 3 | g.38550456G>C | CA433331435 | SCN5A | c.5913C>G (p.Ser1971=) c.5916C>G (p.Ser1972=) c.5862C>G (p.Ser1954=) c.5754C>G (p.Ser1918=) c.5817C>G (p.Ser1939=) c.5787C>G (p.Ser1929=) c.5859C>G (p.Ser1953=) | |
| 3 | g.38550456G>T | CA433331434 | SCN5A | c.5913C>A (p.Ser1971=) c.5916C>A (p.Ser1972=) c.5862C>A (p.Ser1954=) c.5754C>A (p.Ser1918=) c.5817C>A (p.Ser1939=) c.5787C>A (p.Ser1929=) c.5859C>A (p.Ser1953=) | |
| 3 | g.38550457G>A | CA352139471 | SCN5A | c.5912C>T (p.Ser1971Phe) c.5915C>T (p.Ser1972Phe) c.5861C>T (p.Ser1954Phe) c.5753C>T (p.Ser1918Phe) c.5816C>T (p.Ser1939Phe) c.5786C>T (p.Ser1929Phe) c.5858C>T (p.Ser1953Phe) | |
| 3 | g.38550457G>C | CA352139472 | SCN5A | c.5912C>G (p.Ser1971Cys) c.5915C>G (p.Ser1972Cys) c.5861C>G (p.Ser1954Cys) c.5753C>G (p.Ser1918Cys) c.5816C>G (p.Ser1939Cys) c.5786C>G (p.Ser1929Cys) c.5858C>G (p.Ser1953Cys) | |
| 3 | g.38550457G>T | CA352139474 | SCN5A | c.5912C>A (p.Ser1971Tyr) c.5915C>A (p.Ser1972Tyr) c.5861C>A (p.Ser1954Tyr) c.5753C>A (p.Ser1918Tyr) c.5816C>A (p.Ser1939Tyr) c.5786C>A (p.Ser1929Tyr) c.5858C>A (p.Ser1953Tyr) | |
| 3 | g.38550458A>C | CA352139479 | SCN5A | c.5911T>G (p.Ser1971Ala) c.5914T>G (p.Ser1972Ala) c.5860T>G (p.Ser1954Ala) c.5752T>G (p.Ser1918Ala) c.5815T>G (p.Ser1939Ala) c.5785T>G (p.Ser1929Ala) c.5857T>G (p.Ser1953Ala) | ClinVar |
| 3 | g.38550458A>G | CA352139475 | SCN5A | c.5911T>C (p.Ser1971Pro) c.5914T>C (p.Ser1972Pro) c.5860T>C (p.Ser1954Pro) c.5752T>C (p.Ser1918Pro) c.5815T>C (p.Ser1939Pro) c.5785T>C (p.Ser1929Pro) c.5857T>C (p.Ser1953Pro) | ClinVar |
| 3 | g.38550458A>T | CA352139477 | SCN5A | c.5911T>A (p.Ser1971Thr) c.5914T>A (p.Ser1972Thr) c.5860T>A (p.Ser1954Thr) c.5752T>A (p.Ser1918Thr) c.5815T>A (p.Ser1939Thr) c.5785T>A (p.Ser1929Thr) c.5857T>A (p.Ser1953Thr) | |
| 3 | g.38550459A= | CA1358555814 | SCN5A | c.5910T= (p.Thr1970=) c.5913T= (p.Thr1971=) c.5859T= (p.Thr1953=) c.5751T= (p.Thr1917=) c.5814T= (p.Thr1938=) c.5784T= (p.Thr1928=) c.5856T= (p.Thr1952=) | |
| 3 | g.38550459A>C | CA72937695 | SCN5A | c.5910T>G (p.Thr1970=) c.5913T>G (p.Thr1971=) c.5859T>G (p.Thr1953=) c.5751T>G (p.Thr1917=) c.5814T>G (p.Thr1938=) c.5784T>G (p.Thr1928=) c.5856T>G (p.Thr1952=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550459A>G | CA16611271 | SCN5A | c.5910T>C (p.Thr1970=) c.5913T>C (p.Thr1971=) c.5859T>C (p.Thr1953=) c.5751T>C (p.Thr1917=) c.5814T>C (p.Thr1938=) c.5784T>C (p.Thr1928=) c.5856T>C (p.Thr1952=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550459A>T | CA433331436 | SCN5A | c.5910T>A (p.Thr1970=) c.5913T>A (p.Thr1971=) c.5859T>A (p.Thr1953=) c.5751T>A (p.Thr1917=) c.5814T>A (p.Thr1938=) c.5784T>A (p.Thr1928=) c.5856T>A (p.Thr1952=) | |
| 3 | g.38550459_38550468delinsAGTGGAGGAG | CA1358555812 | SCN5A | c.5901_5910delinsCTCCTCCACT (p.Ile1967=) c.5904_5913delinsCTCCTCCACT (p.Ile1968=) c.5850_5859delinsCTCCTCCACT (p.Ile1950=) c.5742_5751delinsCTCCTCCACT (p.Ile1914=) c.5805_5814delinsCTCCTCCACT (p.Ile1935=) c.5775_5784delinsCTCCTCCACT (p.Ile1925=) c.5847_5856delinsCTCCTCCACT (p.Ile1949=) | |
| 3 | g.38550460G>A | CA352139482 | SCN5A | c.5909C>T (p.Thr1970Ile) c.5912C>T (p.Thr1971Ile) c.5858C>T (p.Thr1953Ile) c.5750C>T (p.Thr1917Ile) c.5813C>T (p.Thr1938Ile) c.5783C>T (p.Thr1928Ile) c.5855C>T (p.Thr1952Ile) | dbSNP gnomAD v4 |
| 3 | g.38550460G>C | CA72937698 | SCN5A | c.5909C>G (p.Thr1970Ser) c.5912C>G (p.Thr1971Ser) c.5858C>G (p.Thr1953Ser) c.5750C>G (p.Thr1917Ser) c.5813C>G (p.Thr1938Ser) c.5783C>G (p.Thr1928Ser) c.5855C>G (p.Thr1952Ser) | dbSNP gnomAD v4 |
| 3 | g.38550460G= | CA1358555819 | SCN5A | c.5909C= (p.Thr1970=) c.5912C= (p.Thr1971=) c.5858C= (p.Thr1953=) c.5750C= (p.Thr1917=) c.5813C= (p.Thr1938=) c.5783C= (p.Thr1928=) c.5855C= (p.Thr1952=) | |
| 3 | g.38550460G>T | CA352139485 | SCN5A | c.5909C>A (p.Thr1970Asn) c.5912C>A (p.Thr1971Asn) c.5858C>A (p.Thr1953Asn) c.5750C>A (p.Thr1917Asn) c.5813C>A (p.Thr1938Asn) c.5783C>A (p.Thr1928Asn) c.5855C>A (p.Thr1952Asn) | |
| 3 | g.38550460_38550468del | CA064986 | SCN5A | c.5901_5909del (p.Ser1968_Thr1970del) c.5904_5912del (p.Ser1969_Thr1971del) c.5850_5858del (p.Ser1951_Thr1953del) c.5742_5750del (p.Ser1915_Thr1917del) c.5805_5813del (p.Ser1936_Thr1938del) c.5775_5783del (p.Ser1926_Thr1928del) c.5847_5855del (p.Ser1950_Thr1952del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550460_38550469delinsGTGGAGGAGA | CA1358555822 | SCN5A | c.5900_5909delinsTCTCCTCCAC (p.Ile1967=) c.5903_5912delinsTCTCCTCCAC (p.Ile1968=) c.5849_5858delinsTCTCCTCCAC (p.Ile1950=) c.5741_5750delinsTCTCCTCCAC (p.Ile1914=) c.5804_5813delinsTCTCCTCCAC (p.Ile1935=) c.5774_5783delinsTCTCCTCCAC (p.Ile1925=) c.5846_5855delinsTCTCCTCCAC (p.Ile1949=) | |
| 3 | g.38550461T>A | CA352139488 | SCN5A | c.5908A>T (p.Thr1970Ser) c.5911A>T (p.Thr1971Ser) c.5857A>T (p.Thr1953Ser) c.5749A>T (p.Thr1917Ser) c.5812A>T (p.Thr1938Ser) c.5782A>T (p.Thr1928Ser) c.5854A>T (p.Thr1952Ser) | |
| 3 | g.38550461T>C | CA352139489 | SCN5A | c.5908A>G (p.Thr1970Ala) c.5911A>G (p.Thr1971Ala) c.5857A>G (p.Thr1953Ala) c.5749A>G (p.Thr1917Ala) c.5812A>G (p.Thr1938Ala) c.5782A>G (p.Thr1928Ala) c.5854A>G (p.Thr1952Ala) | |
| 3 | g.38550461T>G | CA352139491 | SCN5A | c.5908A>C (p.Thr1970Pro) c.5911A>C (p.Thr1971Pro) c.5857A>C (p.Thr1953Pro) c.5749A>C (p.Thr1917Pro) c.5812A>C (p.Thr1938Pro) c.5782A>C (p.Thr1928Pro) c.5854A>C (p.Thr1952Pro) | |
| 3 | g.38550469_38550477dup | CA2499216736 | SCN5A | c.5900_5908dup (p.Ser1969_Thr1970insIleSerSer) c.5903_5911dup (p.Ser1970_Thr1971insIleSerSer) c.5849_5857dup (p.Ser1952_Thr1953insIleSerSer) c.5741_5749dup (p.Ser1916_Thr1917insIleSerSer) c.5804_5812dup (p.Ser1937_Thr1938insIleSerSer) c.5774_5782dup (p.Ser1927_Thr1928insIleSerSer) c.5846_5854dup (p.Ser1951_Thr1952insIleSerSer) | ClinVar dbSNP |
| 3 | g.38550469_38550477del | CA906906409 | SCN5A | c.5900_5908del (p.Ile1967_Ser1969del) c.5903_5911del (p.Ile1968_Ser1970del) c.5849_5857del (p.Ile1950_Ser1952del) c.5741_5749del (p.Ile1914_Ser1916del) c.5804_5812del (p.Ile1935_Ser1937del) c.5774_5782del (p.Ile1925_Ser1927del) c.5846_5854del (p.Ile1949_Ser1951del) | dbSNP |
| 3 | g.38550462G>A | CA433331437 | SCN5A | c.5907C>T (p.Ser1969=) c.5910C>T (p.Ser1970=) c.5856C>T (p.Ser1952=) c.5748C>T (p.Ser1916=) c.5811C>T (p.Ser1937=) c.5781C>T (p.Ser1927=) c.5853C>T (p.Ser1951=) | |
| 3 | g.38550462G>C | CA433331438 | SCN5A | c.5907C>G (p.Ser1969=) c.5910C>G (p.Ser1970=) c.5856C>G (p.Ser1952=) c.5748C>G (p.Ser1916=) c.5811C>G (p.Ser1937=) c.5781C>G (p.Ser1927=) c.5853C>G (p.Ser1951=) | |
| 3 | g.38550462G>T | CA433331439 | SCN5A | c.5907C>A (p.Ser1969=) c.5910C>A (p.Ser1970=) c.5856C>A (p.Ser1952=) c.5748C>A (p.Ser1916=) c.5811C>A (p.Ser1937=) c.5781C>A (p.Ser1927=) c.5853C>A (p.Ser1951=) | ClinVar |
| 3 | g.38550463G>A | CA352139493 | SCN5A | c.5906C>T (p.Ser1969Phe) c.5909C>T (p.Ser1970Phe) c.5855C>T (p.Ser1952Phe) c.5747C>T (p.Ser1916Phe) c.5810C>T (p.Ser1937Phe) c.5780C>T (p.Ser1927Phe) c.5852C>T (p.Ser1951Phe) | gnomAD v4 |
| 3 | g.38550463G>C | CA352139494 | SCN5A | c.5906C>G (p.Ser1969Cys) c.5909C>G (p.Ser1970Cys) c.5855C>G (p.Ser1952Cys) c.5747C>G (p.Ser1916Cys) c.5810C>G (p.Ser1937Cys) c.5780C>G (p.Ser1927Cys) c.5852C>G (p.Ser1951Cys) | dbSNP |
| 3 | g.38550463G>T | CA352139495 | SCN5A | c.5906C>A (p.Ser1969Tyr) c.5909C>A (p.Ser1970Tyr) c.5855C>A (p.Ser1952Tyr) c.5747C>A (p.Ser1916Tyr) c.5810C>A (p.Ser1937Tyr) c.5780C>A (p.Ser1927Tyr) c.5852C>A (p.Ser1951Tyr) | |
| 3 | g.38550464A= | CA1358555829 | SCN5A | c.5905T= (p.Ser1969=) c.5908T= (p.Ser1970=) c.5854T= (p.Ser1952=) c.5746T= (p.Ser1916=) c.5809T= (p.Ser1937=) c.5779T= (p.Ser1927=) c.5851T= (p.Ser1951=) | |
| 3 | g.38550464A>C | CA352139498 | SCN5A | c.5905T>G (p.Ser1969Ala) c.5908T>G (p.Ser1970Ala) c.5854T>G (p.Ser1952Ala) c.5746T>G (p.Ser1916Ala) c.5809T>G (p.Ser1937Ala) c.5779T>G (p.Ser1927Ala) c.5851T>G (p.Ser1951Ala) | |
| 3 | g.38550464A>G | CA352139497 | SCN5A | c.5905T>C (p.Ser1969Pro) c.5908T>C (p.Ser1970Pro) c.5854T>C (p.Ser1952Pro) c.5746T>C (p.Ser1916Pro) c.5809T>C (p.Ser1937Pro) c.5779T>C (p.Ser1927Pro) c.5851T>C (p.Ser1951Pro) | dbSNP gnomAD v2 |
| 3 | g.38550464A>T | CA352139496 | SCN5A | c.5905T>A (p.Ser1969Thr) c.5908T>A (p.Ser1970Thr) c.5854T>A (p.Ser1952Thr) c.5746T>A (p.Ser1916Thr) c.5809T>A (p.Ser1937Thr) c.5779T>A (p.Ser1927Thr) c.5851T>A (p.Ser1951Thr) | |
| 3 | g.38550465G>A | CA433331443 | SCN5A | c.5904C>T (p.Ser1968=) c.5907C>T (p.Ser1969=) c.5853C>T (p.Ser1951=) c.5745C>T (p.Ser1915=) c.5808C>T (p.Ser1936=) c.5778C>T (p.Ser1926=) c.5850C>T (p.Ser1950=) | |
| 3 | g.38550465G>C | CA433331442 | SCN5A | c.5904C>G (p.Ser1968=) c.5907C>G (p.Ser1969=) c.5853C>G (p.Ser1951=) c.5745C>G (p.Ser1915=) c.5808C>G (p.Ser1936=) c.5778C>G (p.Ser1926=) c.5850C>G (p.Ser1950=) | |
| 3 | g.38550465G>T | CA433331441 | SCN5A | c.5904C>A (p.Ser1968=) c.5907C>A (p.Ser1969=) c.5853C>A (p.Ser1951=) c.5745C>A (p.Ser1915=) c.5808C>A (p.Ser1936=) c.5778C>A (p.Ser1926=) c.5850C>A (p.Ser1950=) | |
| 3 | g.38550466G>A | CA064997 | SCN5A | c.5903C>T (p.Ser1968Phe) c.5906C>T (p.Ser1969Phe) c.5852C>T (p.Ser1951Phe) c.5744C>T (p.Ser1915Phe) c.5807C>T (p.Ser1936Phe) c.5777C>T (p.Ser1926Phe) c.5849C>T (p.Ser1950Phe) | dbSNP ExAC |
| 3 | g.38550466G>C | CA352139500 | SCN5A | c.5903C>G (p.Ser1968Cys) c.5906C>G (p.Ser1969Cys) c.5852C>G (p.Ser1951Cys) c.5744C>G (p.Ser1915Cys) c.5807C>G (p.Ser1936Cys) c.5777C>G (p.Ser1926Cys) c.5849C>G (p.Ser1950Cys) | |
| 3 | g.38550466G= | CA1358555832 | SCN5A | c.5903C= (p.Ser1968=) c.5906C= (p.Ser1969=) c.5852C= (p.Ser1951=) c.5744C= (p.Ser1915=) c.5807C= (p.Ser1936=) c.5777C= (p.Ser1926=) c.5849C= (p.Ser1950=) | |
| 3 | g.38550466G>T | CA352139502 | SCN5A | c.5903C>A (p.Ser1968Tyr) c.5906C>A (p.Ser1969Tyr) c.5852C>A (p.Ser1951Tyr) c.5744C>A (p.Ser1915Tyr) c.5807C>A (p.Ser1936Tyr) c.5777C>A (p.Ser1926Tyr) c.5849C>A (p.Ser1950Tyr) | |
| 3 | g.38550467A>C | CA352139504 | SCN5A | c.5902T>G (p.Ser1968Ala) c.5905T>G (p.Ser1969Ala) c.5851T>G (p.Ser1951Ala) c.5743T>G (p.Ser1915Ala) c.5806T>G (p.Ser1936Ala) c.5776T>G (p.Ser1926Ala) c.5848T>G (p.Ser1950Ala) | |
| 3 | g.38550467A>G | CA352139505 | SCN5A | c.5902T>C (p.Ser1968Pro) c.5905T>C (p.Ser1969Pro) c.5851T>C (p.Ser1951Pro) c.5743T>C (p.Ser1915Pro) c.5806T>C (p.Ser1936Pro) c.5776T>C (p.Ser1926Pro) c.5848T>C (p.Ser1950Pro) | |
| 3 | g.38550467A>T | CA352139507 | SCN5A | c.5902T>A (p.Ser1968Thr) c.5905T>A (p.Ser1969Thr) c.5851T>A (p.Ser1951Thr) c.5743T>A (p.Ser1915Thr) c.5806T>A (p.Ser1936Thr) c.5776T>A (p.Ser1926Thr) c.5848T>A (p.Ser1950Thr) | |
| 3 | g.38550468G>A | CA433331444 | SCN5A | c.5901C>T (p.Ile1967=) c.5904C>T (p.Ile1968=) c.5850C>T (p.Ile1950=) c.5742C>T (p.Ile1914=) c.5805C>T (p.Ile1935=) c.5775C>T (p.Ile1925=) c.5847C>T (p.Ile1949=) | |
| 3 | g.38550468G>C | CA019540 | SCN5A | c.5901C>G (p.Ile1967Met) c.5904C>G (p.Ile1968Met) c.5850C>G (p.Ile1950Met) c.5742C>G (p.Ile1914Met) c.5805C>G (p.Ile1935Met) c.5775C>G (p.Ile1925Met) c.5847C>G (p.Ile1949Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550468G= | CA1358555834 | SCN5A | c.5901C= (p.Ile1967=) c.5904C= (p.Ile1968=) c.5850C= (p.Ile1950=) c.5742C= (p.Ile1914=) c.5805C= (p.Ile1935=) c.5775C= (p.Ile1925=) c.5847C= (p.Ile1949=) | |
| 3 | g.38550468G>T | CA433331445 | SCN5A | c.5901C>A (p.Ile1967=) c.5904C>A (p.Ile1968=) c.5850C>A (p.Ile1950=) c.5742C>A (p.Ile1914=) c.5805C>A (p.Ile1935=) c.5775C>A (p.Ile1925=) c.5847C>A (p.Ile1949=) | |
| 3 | g.38550469A= | CA1358555837 | SCN5A | c.5900T= (p.Ile1967=) c.5903T= (p.Ile1968=) c.5849T= (p.Ile1950=) c.5741T= (p.Ile1914=) c.5804T= (p.Ile1935=) c.5774T= (p.Ile1925=) c.5846T= (p.Ile1949=) | |
| 3 | g.38550469A>C | CA019536 | SCN5A | c.5900T>G (p.Ile1967Ser) c.5903T>G (p.Ile1968Ser) c.5849T>G (p.Ile1950Ser) c.5741T>G (p.Ile1914Ser) c.5804T>G (p.Ile1935Ser) c.5774T>G (p.Ile1925Ser) c.5846T>G (p.Ile1949Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550469A>G | CA72937706 | SCN5A | c.5900T>C (p.Ile1967Thr) c.5903T>C (p.Ile1968Thr) c.5849T>C (p.Ile1950Thr) c.5741T>C (p.Ile1914Thr) c.5804T>C (p.Ile1935Thr) c.5774T>C (p.Ile1925Thr) c.5846T>C (p.Ile1949Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550469A>T | CA064976 | SCN5A | c.5900T>A (p.Ile1967Asn) c.5903T>A (p.Ile1968Asn) c.5849T>A (p.Ile1950Asn) c.5741T>A (p.Ile1914Asn) c.5804T>A (p.Ile1935Asn) c.5774T>A (p.Ile1925Asn) c.5846T>A (p.Ile1949Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550470T>A | CA352139513 | SCN5A | c.5899A>T (p.Ile1967Phe) c.5902A>T (p.Ile1968Phe) c.5848A>T (p.Ile1950Phe) c.5740A>T (p.Ile1914Phe) c.5803A>T (p.Ile1935Phe) c.5773A>T (p.Ile1925Phe) c.5845A>T (p.Ile1949Phe) | |
| 3 | g.38550470T>C | CA064971 | SCN5A | c.5899A>G (p.Ile1967Val) c.5902A>G (p.Ile1968Val) c.5848A>G (p.Ile1950Val) c.5740A>G (p.Ile1914Val) c.5803A>G (p.Ile1935Val) c.5773A>G (p.Ile1925Val) c.5845A>G (p.Ile1949Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550470T>G | CA352139514 | SCN5A | c.5899A>C (p.Ile1967Leu) c.5902A>C (p.Ile1968Leu) c.5848A>C (p.Ile1950Leu) c.5740A>C (p.Ile1914Leu) c.5803A>C (p.Ile1935Leu) c.5773A>C (p.Ile1925Leu) c.5845A>C (p.Ile1949Leu) | |
| 3 | g.38550470T= | CA1358555842 | SCN5A | c.5899A= (p.Ile1967=) c.5902A= (p.Ile1968=) c.5848A= (p.Ile1950=) c.5740A= (p.Ile1914=) c.5803A= (p.Ile1935=) c.5773A= (p.Ile1925=) c.5845A= (p.Ile1949=) | |
| 3 | g.38550476_38550484del | CA2580069722 | SCN5A | c.5891_5899del (p.Ser1964_Ser1966del) c.5894_5902del (p.Ser1965_Ser1967del) c.5840_5848del (p.Ser1947_Ser1949del) c.5732_5740del (p.Ser1911_Ser1913del) c.5795_5803del (p.Ser1932_Ser1934del) c.5765_5773del (p.Ser1922_Ser1924del) c.5837_5845del (p.Ser1946_Ser1948del) | ClinVar |
| 3 | g.38550471G>A | CA433331448 | SCN5A | c.5898C>T (p.Ser1966=) c.5901C>T (p.Ser1967=) c.5847C>T (p.Ser1949=) c.5739C>T (p.Ser1913=) c.5802C>T (p.Ser1934=) c.5772C>T (p.Ser1924=) c.5844C>T (p.Ser1948=) | |
| 3 | g.38550471G>C | CA433331449 | SCN5A | c.5898C>G (p.Ser1966=) c.5901C>G (p.Ser1967=) c.5847C>G (p.Ser1949=) c.5739C>G (p.Ser1913=) c.5802C>G (p.Ser1934=) c.5772C>G (p.Ser1924=) c.5844C>G (p.Ser1948=) | |
| 3 | g.38550471G>T | CA433331450 | SCN5A | c.5898C>A (p.Ser1966=) c.5901C>A (p.Ser1967=) c.5847C>A (p.Ser1949=) c.5739C>A (p.Ser1913=) c.5802C>A (p.Ser1934=) c.5772C>A (p.Ser1924=) c.5844C>A (p.Ser1948=) | |
| 3 | g.38550472G>A | CA352139515 | SCN5A | c.5897C>T (p.Ser1966Phe) c.5900C>T (p.Ser1967Phe) c.5846C>T (p.Ser1949Phe) c.5738C>T (p.Ser1913Phe) c.5801C>T (p.Ser1934Phe) c.5771C>T (p.Ser1924Phe) c.5843C>T (p.Ser1948Phe) | |
| 3 | g.38550472G>C | CA352139518 | SCN5A | c.5897C>G (p.Ser1966Cys) c.5900C>G (p.Ser1967Cys) c.5846C>G (p.Ser1949Cys) c.5738C>G (p.Ser1913Cys) c.5801C>G (p.Ser1934Cys) c.5771C>G (p.Ser1924Cys) c.5843C>G (p.Ser1948Cys) | ClinVar dbSNP |
| 3 | g.38550472G>T | CA352139516 | SCN5A | c.5897C>A (p.Ser1966Tyr) c.5900C>A (p.Ser1967Tyr) c.5846C>A (p.Ser1949Tyr) c.5738C>A (p.Ser1913Tyr) c.5801C>A (p.Ser1934Tyr) c.5771C>A (p.Ser1924Tyr) c.5843C>A (p.Ser1948Tyr) | |
| 3 | g.38550473del | CA1139532803 | SCN5A | c.5896del (p.Ser1966ProfsTer?) c.5899del (p.Ser1967ProfsTer?) c.5845del (p.Ser1949ProfsTer?) c.5737del (p.Ser1913ProfsTer?) c.5800del (p.Ser1934ProfsTer?) c.5770del (p.Ser1924ProfsTer?) c.5842del (p.Ser1948ProfsTer?) | ClinVar |
| 3 | g.38550473A= | CA1358555844 | SCN5A | c.5896T= (p.Ser1966=) c.5899T= (p.Ser1967=) c.5845T= (p.Ser1949=) c.5737T= (p.Ser1913=) c.5800T= (p.Ser1934=) c.5770T= (p.Ser1924=) c.5842T= (p.Ser1948=) | |
| 3 | g.38550473A>C | CA352139520 | SCN5A | c.5896T>G (p.Ser1966Ala) c.5899T>G (p.Ser1967Ala) c.5845T>G (p.Ser1949Ala) c.5737T>G (p.Ser1913Ala) c.5800T>G (p.Ser1934Ala) c.5770T>G (p.Ser1924Ala) c.5842T>G (p.Ser1948Ala) | |
| 3 | g.38550473A>G | CA352139523 | SCN5A | c.5896T>C (p.Ser1966Pro) c.5899T>C (p.Ser1967Pro) c.5845T>C (p.Ser1949Pro) c.5737T>C (p.Ser1913Pro) c.5800T>C (p.Ser1934Pro) c.5770T>C (p.Ser1924Pro) c.5842T>C (p.Ser1948Pro) | |
| 3 | g.38550473A>T | CA352139524 | SCN5A | c.5896T>A (p.Ser1966Thr) c.5899T>A (p.Ser1967Thr) c.5845T>A (p.Ser1949Thr) c.5737T>A (p.Ser1913Thr) c.5800T>A (p.Ser1934Thr) c.5770T>A (p.Ser1924Thr) c.5842T>A (p.Ser1948Thr) | |
| 3 | g.38550474G>A | CA433331451 | SCN5A | c.5895C>T (p.Ser1965=) c.5898C>T (p.Ser1966=) c.5844C>T (p.Ser1948=) c.5736C>T (p.Ser1912=) c.5799C>T (p.Ser1933=) c.5769C>T (p.Ser1923=) c.5841C>T (p.Ser1947=) | gnomAD v4 |
| 3 | g.38550474G>C | CA433331453 | SCN5A | c.5895C>G (p.Ser1965=) c.5898C>G (p.Ser1966=) c.5844C>G (p.Ser1948=) c.5736C>G (p.Ser1912=) c.5799C>G (p.Ser1933=) c.5769C>G (p.Ser1923=) c.5841C>G (p.Ser1947=) | gnomAD v4 |
| 3 | g.38550474G>T | CA433331455 | SCN5A | c.5895C>A (p.Ser1965=) c.5898C>A (p.Ser1966=) c.5844C>A (p.Ser1948=) c.5736C>A (p.Ser1912=) c.5799C>A (p.Ser1933=) c.5769C>A (p.Ser1923=) c.5841C>A (p.Ser1947=) | |
| 3 | g.38550475dup | CA542615521 | SCN5A | c.5895dup (p.Ser1966LeufsTer12) c.5898dup (p.Ser1967LeufsTer12) c.5844dup (p.Ser1949LeufsTer12) c.5736dup (p.Ser1913LeufsTer12) c.5799dup (p.Ser1934LeufsTer12) c.5769dup (p.Ser1924LeufsTer12) c.5841dup (p.Ser1948LeufsTer12) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550475G>A | CA352139526 | SCN5A | c.5894C>T (p.Ser1965Phe) c.5897C>T (p.Ser1966Phe) c.5843C>T (p.Ser1948Phe) c.5735C>T (p.Ser1912Phe) c.5798C>T (p.Ser1933Phe) c.5768C>T (p.Ser1923Phe) c.5840C>T (p.Ser1947Phe) | |
| 3 | g.38550475G>C | CA352139528 | SCN5A | c.5894C>G (p.Ser1965Cys) c.5897C>G (p.Ser1966Cys) c.5843C>G (p.Ser1948Cys) c.5735C>G (p.Ser1912Cys) c.5798C>G (p.Ser1933Cys) c.5768C>G (p.Ser1923Cys) c.5840C>G (p.Ser1947Cys) | ClinVar dbSNP |
| 3 | g.38550475G= | CA1358555849 | SCN5A | c.5894C= (p.Ser1965=) c.5897C= (p.Ser1966=) c.5843C= (p.Ser1948=) c.5735C= (p.Ser1912=) c.5798C= (p.Ser1933=) c.5768C= (p.Ser1923=) c.5840C= (p.Ser1947=) | |
| 3 | g.38550475G>T | CA352139529 | SCN5A | c.5894C>A (p.Ser1965Tyr) c.5897C>A (p.Ser1966Tyr) c.5843C>A (p.Ser1948Tyr) c.5735C>A (p.Ser1912Tyr) c.5798C>A (p.Ser1933Tyr) c.5768C>A (p.Ser1923Tyr) c.5840C>A (p.Ser1947Tyr) | ClinVar dbSNP |
| 3 | g.38550476A= | CA1358555852 | SCN5A | c.5893T= (p.Ser1965=) c.5896T= (p.Ser1966=) c.5842T= (p.Ser1948=) c.5734T= (p.Ser1912=) c.5797T= (p.Ser1933=) c.5767T= (p.Ser1923=) c.5839T= (p.Ser1947=) | |
| 3 | g.38550476A>C | CA352139532 | SCN5A | c.5893T>G (p.Ser1965Ala) c.5896T>G (p.Ser1966Ala) c.5842T>G (p.Ser1948Ala) c.5734T>G (p.Ser1912Ala) c.5797T>G (p.Ser1933Ala) c.5767T>G (p.Ser1923Ala) c.5839T>G (p.Ser1947Ala) | |
| 3 | g.38550476A>G | CA352139533 | SCN5A | c.5893T>C (p.Ser1965Pro) c.5896T>C (p.Ser1966Pro) c.5842T>C (p.Ser1948Pro) c.5734T>C (p.Ser1912Pro) c.5797T>C (p.Ser1933Pro) c.5767T>C (p.Ser1923Pro) c.5839T>C (p.Ser1947Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550476A>T | CA352139535 | SCN5A | c.5893T>A (p.Ser1965Thr) c.5896T>A (p.Ser1966Thr) c.5842T>A (p.Ser1948Thr) c.5734T>A (p.Ser1912Thr) c.5797T>A (p.Ser1933Thr) c.5767T>A (p.Ser1923Thr) c.5839T>A (p.Ser1947Thr) | |
| 3 | g.38550477G>A | CA433331457 | SCN5A | c.5892C>T (p.Ser1964=) c.5895C>T (p.Ser1965=) c.5841C>T (p.Ser1947=) c.5733C>T (p.Ser1911=) c.5796C>T (p.Ser1932=) c.5766C>T (p.Ser1922=) c.5838C>T (p.Ser1946=) | dbSNP gnomAD v4 |
| 3 | g.38550477G>C | CA352139537 | SCN5A | c.5892C>G (p.Ser1964Arg) c.5895C>G (p.Ser1965Arg) c.5841C>G (p.Ser1947Arg) c.5733C>G (p.Ser1911Arg) c.5796C>G (p.Ser1932Arg) c.5766C>G (p.Ser1922Arg) c.5838C>G (p.Ser1946Arg) | ClinVar |
| 3 | g.38550477G= | CA1358555855 | SCN5A | c.5892C= (p.Ser1964=) c.5895C= (p.Ser1965=) c.5841C= (p.Ser1947=) c.5733C= (p.Ser1911=) c.5796C= (p.Ser1932=) c.5766C= (p.Ser1922=) c.5838C= (p.Ser1946=) | |
| 3 | g.38550477G>T | CA352139539 | SCN5A | c.5892C>A (p.Ser1964Arg) c.5895C>A (p.Ser1965Arg) c.5841C>A (p.Ser1947Arg) c.5733C>A (p.Ser1911Arg) c.5796C>A (p.Ser1932Arg) c.5766C>A (p.Ser1922Arg) c.5838C>A (p.Ser1946Arg) | |
| 3 | g.38550478C>A | CA352139543 | SCN5A | c.5891G>T (p.Ser1964Ile) c.5894G>T (p.Ser1965Ile) c.5840G>T (p.Ser1947Ile) c.5732G>T (p.Ser1911Ile) c.5795G>T (p.Ser1932Ile) c.5765G>T (p.Ser1922Ile) c.5837G>T (p.Ser1946Ile) | gnomAD v4 |
| 3 | g.38550478C= | CA1358555857 | SCN5A | c.5891G= (p.Ser1964=) c.5894G= (p.Ser1965=) c.5840G= (p.Ser1947=) c.5732G= (p.Ser1911=) c.5795G= (p.Ser1932=) c.5765G= (p.Ser1922=) c.5837G= (p.Ser1946=) | |
| 3 | g.38550478C>G | CA352139545 | SCN5A | c.5891G>C (p.Ser1964Thr) c.5894G>C (p.Ser1965Thr) c.5840G>C (p.Ser1947Thr) c.5732G>C (p.Ser1911Thr) c.5795G>C (p.Ser1932Thr) c.5765G>C (p.Ser1922Thr) c.5837G>C (p.Ser1946Thr) | |
| 3 | g.38550478C>T | CA352139541 | SCN5A | c.5891G>A (p.Ser1964Asn) c.5894G>A (p.Ser1965Asn) c.5840G>A (p.Ser1947Asn) c.5732G>A (p.Ser1911Asn) c.5795G>A (p.Ser1932Asn) c.5765G>A (p.Ser1922Asn) c.5837G>A (p.Ser1946Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550479T>A | CA352139549 | SCN5A | c.5890A>T (p.Ser1964Cys) c.5893A>T (p.Ser1965Cys) c.5839A>T (p.Ser1947Cys) c.5731A>T (p.Ser1911Cys) c.5794A>T (p.Ser1932Cys) c.5764A>T (p.Ser1922Cys) c.5836A>T (p.Ser1946Cys) | |
| 3 | g.38550479T>C | CA064965 | SCN5A | c.5890A>G (p.Ser1964Gly) c.5893A>G (p.Ser1965Gly) c.5839A>G (p.Ser1947Gly) c.5731A>G (p.Ser1911Gly) c.5794A>G (p.Ser1932Gly) c.5764A>G (p.Ser1922Gly) c.5836A>G (p.Ser1946Gly) | dbSNP ExAC gnomAD v2 |
| 3 | g.38550479T>G | CA352139548 | SCN5A | c.5890A>C (p.Ser1964Arg) c.5893A>C (p.Ser1965Arg) c.5839A>C (p.Ser1947Arg) c.5731A>C (p.Ser1911Arg) c.5794A>C (p.Ser1932Arg) c.5764A>C (p.Ser1922Arg) c.5836A>C (p.Ser1946Arg) | |
| 3 | g.38550479T= | CA1358555860 | SCN5A | c.5890A= (p.Ser1964=) c.5893A= (p.Ser1965=) c.5839A= (p.Ser1947=) c.5731A= (p.Ser1911=) c.5794A= (p.Ser1932=) c.5764A= (p.Ser1922=) c.5836A= (p.Ser1946=) | |
| 3 | g.38550480G>A | CA433331459 | SCN5A | c.5889C>T (p.Ser1963=) c.5892C>T (p.Ser1964=) c.5838C>T (p.Ser1946=) c.5730C>T (p.Ser1910=) c.5793C>T (p.Ser1931=) c.5763C>T (p.Ser1921=) c.5835C>T (p.Ser1945=) | ClinVar |
| 3 | g.38550480G>C | CA433331461 | SCN5A | c.5889C>G (p.Ser1963=) c.5892C>G (p.Ser1964=) c.5838C>G (p.Ser1946=) c.5730C>G (p.Ser1910=) c.5793C>G (p.Ser1931=) c.5763C>G (p.Ser1921=) c.5835C>G (p.Ser1945=) | |
| 3 | g.38550480G>T | CA433331462 | SCN5A | c.5889C>A (p.Ser1963=) c.5892C>A (p.Ser1964=) c.5838C>A (p.Ser1946=) c.5730C>A (p.Ser1910=) c.5793C>A (p.Ser1931=) c.5763C>A (p.Ser1921=) c.5835C>A (p.Ser1945=) | |
| 3 | g.38550481G>A | CA019527 | SCN5A | c.5888C>T (p.Ser1963Phe) c.5891C>T (p.Ser1964Phe) c.5837C>T (p.Ser1946Phe) c.5729C>T (p.Ser1910Phe) c.5792C>T (p.Ser1931Phe) c.5762C>T (p.Ser1921Phe) c.5834C>T (p.Ser1945Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550481G>C | CA352139552 | SCN5A | c.5888C>G (p.Ser1963Cys) c.5891C>G (p.Ser1964Cys) c.5837C>G (p.Ser1946Cys) c.5729C>G (p.Ser1910Cys) c.5792C>G (p.Ser1931Cys) c.5762C>G (p.Ser1921Cys) c.5834C>G (p.Ser1945Cys) | |
| 3 | g.38550481G= | CA1358555864 | SCN5A | c.5888C= (p.Ser1963=) c.5891C= (p.Ser1964=) c.5837C= (p.Ser1946=) c.5729C= (p.Ser1910=) c.5792C= (p.Ser1931=) c.5762C= (p.Ser1921=) c.5834C= (p.Ser1945=) | |
| 3 | g.38550481G>T | CA352139554 | SCN5A | c.5888C>A (p.Ser1963Tyr) c.5891C>A (p.Ser1964Tyr) c.5837C>A (p.Ser1946Tyr) c.5729C>A (p.Ser1910Tyr) c.5792C>A (p.Ser1931Tyr) c.5762C>A (p.Ser1921Tyr) c.5834C>A (p.Ser1945Tyr) | |
| 3 | g.38550482A>C | CA352139559 | SCN5A | c.5887T>G (p.Ser1963Ala) c.5890T>G (p.Ser1964Ala) c.5836T>G (p.Ser1946Ala) c.5728T>G (p.Ser1910Ala) c.5791T>G (p.Ser1931Ala) c.5761T>G (p.Ser1921Ala) c.5833T>G (p.Ser1945Ala) | |
| 3 | g.38550482A>G | CA352139558 | SCN5A | c.5887T>C (p.Ser1963Pro) c.5890T>C (p.Ser1964Pro) c.5836T>C (p.Ser1946Pro) c.5728T>C (p.Ser1910Pro) c.5791T>C (p.Ser1931Pro) c.5761T>C (p.Ser1921Pro) c.5833T>C (p.Ser1945Pro) | |
| 3 | g.38550482A>T | CA352139556 | SCN5A | c.5887T>A (p.Ser1963Thr) c.5890T>A (p.Ser1964Thr) c.5836T>A (p.Ser1946Thr) c.5728T>A (p.Ser1910Thr) c.5791T>A (p.Ser1931Thr) c.5761T>A (p.Ser1921Thr) c.5833T>A (p.Ser1945Thr) | |
| 3 | g.38550483G>A | CA72937720 | SCN5A | c.5886C>T (p.Pro1962=) c.5889C>T (p.Pro1963=) c.5835C>T (p.Pro1945=) c.5727C>T (p.Pro1909=) c.5790C>T (p.Pro1930=) c.5760C>T (p.Pro1920=) c.5832C>T (p.Pro1944=) | ClinVar dbSNP |
| 3 | g.38550483G>C | CA433331465 | SCN5A | c.5886C>G (p.Pro1962=) c.5889C>G (p.Pro1963=) c.5835C>G (p.Pro1945=) c.5727C>G (p.Pro1909=) c.5790C>G (p.Pro1930=) c.5760C>G (p.Pro1920=) c.5832C>G (p.Pro1944=) | ClinVar |
| 3 | g.38550483G= | CA1358555870 | SCN5A | c.5886C= (p.Pro1962=) c.5889C= (p.Pro1963=) c.5835C= (p.Pro1945=) c.5727C= (p.Pro1909=) c.5790C= (p.Pro1930=) c.5760C= (p.Pro1920=) c.5832C= (p.Pro1944=) | |
| 3 | g.38550483G>T | CA433331466 | SCN5A | c.5886C>A (p.Pro1962=) c.5889C>A (p.Pro1963=) c.5835C>A (p.Pro1945=) c.5727C>A (p.Pro1909=) c.5790C>A (p.Pro1930=) c.5760C>A (p.Pro1920=) c.5832C>A (p.Pro1944=) | |
| 3 | g.38550484G>A | CA064954 | SCN5A | c.5885C>T (p.Pro1962Leu) c.5888C>T (p.Pro1963Leu) c.5834C>T (p.Pro1945Leu) c.5726C>T (p.Pro1909Leu) c.5789C>T (p.Pro1930Leu) c.5759C>T (p.Pro1920Leu) c.5831C>T (p.Pro1944Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550484G>C | CA352139562 | SCN5A | c.5885C>G (p.Pro1962Arg) c.5888C>G (p.Pro1963Arg) c.5834C>G (p.Pro1945Arg) c.5726C>G (p.Pro1909Arg) c.5789C>G (p.Pro1930Arg) c.5759C>G (p.Pro1920Arg) c.5831C>G (p.Pro1944Arg) | |
| 3 | g.38550484G= | CA1358555875 | SCN5A | c.5885C= (p.Pro1962=) c.5888C= (p.Pro1963=) c.5834C= (p.Pro1945=) c.5726C= (p.Pro1909=) c.5789C= (p.Pro1930=) c.5759C= (p.Pro1920=) c.5831C= (p.Pro1944=) | |
| 3 | g.38550484G>T | CA352139564 | SCN5A | c.5885C>A (p.Pro1962His) c.5888C>A (p.Pro1963His) c.5834C>A (p.Pro1945His) c.5726C>A (p.Pro1909His) c.5789C>A (p.Pro1930His) c.5759C>A (p.Pro1920His) c.5831C>A (p.Pro1944His) | gnomAD v4 |
| 3 | g.38550485G>A | CA352139566 | SCN5A | c.5884C>T (p.Pro1962Ser) c.5887C>T (p.Pro1963Ser) c.5833C>T (p.Pro1945Ser) c.5725C>T (p.Pro1909Ser) c.5788C>T (p.Pro1930Ser) c.5758C>T (p.Pro1920Ser) c.5830C>T (p.Pro1944Ser) | |
| 3 | g.38550485G>C | CA352139568 | SCN5A | c.5884C>G (p.Pro1962Ala) c.5887C>G (p.Pro1963Ala) c.5833C>G (p.Pro1945Ala) c.5725C>G (p.Pro1909Ala) c.5788C>G (p.Pro1930Ala) c.5758C>G (p.Pro1920Ala) c.5830C>G (p.Pro1944Ala) | gnomAD v4 |
| 3 | g.38550485G>T | CA352139569 | SCN5A | c.5884C>A (p.Pro1962Thr) c.5887C>A (p.Pro1963Thr) c.5833C>A (p.Pro1945Thr) c.5725C>A (p.Pro1909Thr) c.5788C>A (p.Pro1930Thr) c.5758C>A (p.Pro1920Thr) c.5830C>A (p.Pro1944Thr) | |
| 3 | g.38550486T>A | CA433331469 | SCN5A | c.5883A>T (p.Pro1961=) c.5886A>T (p.Pro1962=) c.5832A>T (p.Pro1944=) c.5724A>T (p.Pro1908=) c.5787A>T (p.Pro1929=) c.5757A>T (p.Pro1919=) c.5829A>T (p.Pro1943=) | |
| 3 | g.38550486T>C | CA433331471 | SCN5A | c.5883A>G (p.Pro1961=) c.5886A>G (p.Pro1962=) c.5832A>G (p.Pro1944=) c.5724A>G (p.Pro1908=) c.5787A>G (p.Pro1929=) c.5757A>G (p.Pro1919=) c.5829A>G (p.Pro1943=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550486T>G | CA433331470 | SCN5A | c.5883A>C (p.Pro1961=) c.5886A>C (p.Pro1962=) c.5832A>C (p.Pro1944=) c.5724A>C (p.Pro1908=) c.5787A>C (p.Pro1929=) c.5757A>C (p.Pro1919=) c.5829A>C (p.Pro1943=) | dbSNP |
| 3 | g.38550486T= | CA1358555878 | SCN5A | c.5883A= (p.Pro1961=) c.5886A= (p.Pro1962=) c.5832A= (p.Pro1944=) c.5724A= (p.Pro1908=) c.5787A= (p.Pro1929=) c.5757A= (p.Pro1919=) c.5829A= (p.Pro1943=) | |
| 3 | g.38550487G>A | CA019523 | SCN5A | c.5882C>T (p.Pro1961Leu) c.5885C>T (p.Pro1962Leu) c.5831C>T (p.Pro1944Leu) c.5723C>T (p.Pro1908Leu) c.5786C>T (p.Pro1929Leu) c.5756C>T (p.Pro1919Leu) c.5828C>T (p.Pro1943Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550487G>C | CA352139572 | SCN5A | c.5882C>G (p.Pro1961Arg) c.5885C>G (p.Pro1962Arg) c.5831C>G (p.Pro1944Arg) c.5723C>G (p.Pro1908Arg) c.5786C>G (p.Pro1929Arg) c.5756C>G (p.Pro1919Arg) c.5828C>G (p.Pro1943Arg) | |
| 3 | g.38550487G= | CA1358555883 | SCN5A | c.5882C= (p.Pro1961=) c.5885C= (p.Pro1962=) c.5831C= (p.Pro1944=) c.5723C= (p.Pro1908=) c.5786C= (p.Pro1929=) c.5756C= (p.Pro1919=) c.5828C= (p.Pro1943=) | |
| 3 | g.38550487G>T | CA352139574 | SCN5A | c.5882C>A (p.Pro1961Gln) c.5885C>A (p.Pro1962Gln) c.5831C>A (p.Pro1944Gln) c.5723C>A (p.Pro1908Gln) c.5786C>A (p.Pro1929Gln) c.5756C>A (p.Pro1919Gln) c.5828C>A (p.Pro1943Gln) | |
| 3 | g.38550488G>A | CA352139575 | SCN5A | c.5881C>T (p.Pro1961Ser) c.5884C>T (p.Pro1962Ser) c.5830C>T (p.Pro1944Ser) c.5722C>T (p.Pro1908Ser) c.5785C>T (p.Pro1929Ser) c.5755C>T (p.Pro1919Ser) c.5827C>T (p.Pro1943Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550488G>C | CA352139576 | SCN5A | c.5881C>G (p.Pro1961Ala) c.5884C>G (p.Pro1962Ala) c.5830C>G (p.Pro1944Ala) c.5722C>G (p.Pro1908Ala) c.5785C>G (p.Pro1929Ala) c.5755C>G (p.Pro1919Ala) c.5827C>G (p.Pro1943Ala) | |
| 3 | g.38550488G= | CA1358555887 | SCN5A | c.5881C= (p.Pro1961=) c.5884C= (p.Pro1962=) c.5830C= (p.Pro1944=) c.5722C= (p.Pro1908=) c.5785C= (p.Pro1929=) c.5755C= (p.Pro1919=) c.5827C= (p.Pro1943=) | |
| 3 | g.38550488G>T | CA352139578 | SCN5A | c.5881C>A (p.Pro1961Thr) c.5884C>A (p.Pro1962Thr) c.5830C>A (p.Pro1944Thr) c.5722C>A (p.Pro1908Thr) c.5785C>A (p.Pro1929Thr) c.5755C>A (p.Pro1919Thr) c.5827C>A (p.Pro1943Thr) | |
| 3 | g.38550489G>A | CA433331474 | SCN5A | c.5880C>T (p.Gly1960=) c.5883C>T (p.Gly1961=) c.5829C>T (p.Gly1943=) c.5721C>T (p.Gly1907=) c.5784C>T (p.Gly1928=) c.5754C>T (p.Gly1918=) c.5826C>T (p.Gly1942=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550489G>C | CA433331475 | SCN5A | c.5880C>G (p.Gly1960=) c.5883C>G (p.Gly1961=) c.5829C>G (p.Gly1943=) c.5721C>G (p.Gly1907=) c.5784C>G (p.Gly1928=) c.5754C>G (p.Gly1918=) c.5826C>G (p.Gly1942=) | |
| 3 | g.38550489G>T | CA433331476 | SCN5A | c.5880C>A (p.Gly1960=) c.5883C>A (p.Gly1961=) c.5829C>A (p.Gly1943=) c.5721C>A (p.Gly1907=) c.5784C>A (p.Gly1928=) c.5754C>A (p.Gly1918=) c.5826C>A (p.Gly1942=) | |
| 3 | g.38550490C>A | CA352139579 | SCN5A | c.5879G>T (p.Gly1960Val) c.5882G>T (p.Gly1961Val) c.5828G>T (p.Gly1943Val) c.5720G>T (p.Gly1907Val) c.5783G>T (p.Gly1928Val) c.5753G>T (p.Gly1918Val) c.5825G>T (p.Gly1942Val) | gnomAD v4 |
| 3 | g.38550490C>G | CA352139581 | SCN5A | c.5879G>C (p.Gly1960Ala) c.5882G>C (p.Gly1961Ala) c.5828G>C (p.Gly1943Ala) c.5720G>C (p.Gly1907Ala) c.5783G>C (p.Gly1928Ala) c.5753G>C (p.Gly1918Ala) c.5825G>C (p.Gly1942Ala) | |
| 3 | g.38550490C>T | CA352139583 | SCN5A | c.5879G>A (p.Gly1960Asp) c.5882G>A (p.Gly1961Asp) c.5828G>A (p.Gly1943Asp) c.5720G>A (p.Gly1907Asp) c.5783G>A (p.Gly1928Asp) c.5753G>A (p.Gly1918Asp) c.5825G>A (p.Gly1942Asp) | ClinVar |
| 3 | g.38550491C>A | CA352139584 | SCN5A | c.5878G>T (p.Gly1960Cys) c.5881G>T (p.Gly1961Cys) c.5827G>T (p.Gly1943Cys) c.5719G>T (p.Gly1907Cys) c.5782G>T (p.Gly1928Cys) c.5752G>T (p.Gly1918Cys) c.5824G>T (p.Gly1942Cys) | |
| 3 | g.38550491C= | CA1358555890 | SCN5A | c.5878G= (p.Gly1960=) c.5881G= (p.Gly1961=) c.5827G= (p.Gly1943=) c.5719G= (p.Gly1907=) c.5782G= (p.Gly1928=) c.5752G= (p.Gly1918=) c.5824G= (p.Gly1942=) | |
| 3 | g.38550491C>G | CA352139586 | SCN5A | c.5878G>C (p.Gly1960Arg) c.5881G>C (p.Gly1961Arg) c.5827G>C (p.Gly1943Arg) c.5719G>C (p.Gly1907Arg) c.5782G>C (p.Gly1928Arg) c.5752G>C (p.Gly1918Arg) c.5824G>C (p.Gly1942Arg) | |
| 3 | g.38550491C>T | CA352139587 | SCN5A | c.5878G>A (p.Gly1960Ser) c.5881G>A (p.Gly1961Ser) c.5827G>A (p.Gly1943Ser) c.5719G>A (p.Gly1907Ser) c.5782G>A (p.Gly1928Ser) c.5752G>A (p.Gly1918Ser) c.5824G>A (p.Gly1942Ser) | dbSNP gnomAD v4 |
| 3 | g.38550492A>C | CA433331480 | SCN5A | c.5877T>G (p.Leu1959=) c.5880T>G (p.Leu1960=) c.5826T>G (p.Leu1942=) c.5718T>G (p.Leu1906=) c.5781T>G (p.Leu1927=) c.5751T>G (p.Leu1917=) c.5823T>G (p.Leu1941=) | |
| 3 | g.38550492A>G | CA433331481 | SCN5A | c.5877T>C (p.Leu1959=) c.5880T>C (p.Leu1960=) c.5826T>C (p.Leu1942=) c.5718T>C (p.Leu1906=) c.5781T>C (p.Leu1927=) c.5751T>C (p.Leu1917=) c.5823T>C (p.Leu1941=) | |
| 3 | g.38550492A>T | CA433331482 | SCN5A | c.5877T>A (p.Leu1959=) c.5880T>A (p.Leu1960=) c.5826T>A (p.Leu1942=) c.5718T>A (p.Leu1906=) c.5781T>A (p.Leu1927=) c.5751T>A (p.Leu1917=) c.5823T>A (p.Leu1941=) | |
| 3 | g.38550493A>C | CA352139590 | SCN5A | c.5876T>G (p.Leu1959Arg) c.5879T>G (p.Leu1960Arg) c.5825T>G (p.Leu1942Arg) c.5717T>G (p.Leu1906Arg) c.5780T>G (p.Leu1927Arg) c.5750T>G (p.Leu1917Arg) c.5822T>G (p.Leu1941Arg) | |
| 3 | g.38550493A>G | CA352139591 | SCN5A | c.5876T>C (p.Leu1959Pro) c.5879T>C (p.Leu1960Pro) c.5825T>C (p.Leu1942Pro) c.5717T>C (p.Leu1906Pro) c.5780T>C (p.Leu1927Pro) c.5750T>C (p.Leu1917Pro) c.5822T>C (p.Leu1941Pro) | gnomAD v4 |
| 3 | g.38550493A>T | CA352139593 | SCN5A | c.5876T>A (p.Leu1959His) c.5879T>A (p.Leu1960His) c.5825T>A (p.Leu1942His) c.5717T>A (p.Leu1906His) c.5780T>A (p.Leu1927His) c.5750T>A (p.Leu1917His) c.5822T>A (p.Leu1941His) | |
| 3 | g.38550494G>A | CA352139595 | SCN5A | c.5875C>T (p.Leu1959Phe) c.5878C>T (p.Leu1960Phe) c.5824C>T (p.Leu1942Phe) c.5716C>T (p.Leu1906Phe) c.5779C>T (p.Leu1927Phe) c.5749C>T (p.Leu1917Phe) c.5821C>T (p.Leu1941Phe) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38550494G>C | CA352139599 | SCN5A | c.5875C>G (p.Leu1959Val) c.5878C>G (p.Leu1960Val) c.5824C>G (p.Leu1942Val) c.5716C>G (p.Leu1906Val) c.5779C>G (p.Leu1927Val) c.5749C>G (p.Leu1917Val) c.5821C>G (p.Leu1941Val) | |
| 3 | g.38550494G= | CA1358555893 | SCN5A | c.5875C= (p.Leu1959=) c.5878C= (p.Leu1960=) c.5824C= (p.Leu1942=) c.5716C= (p.Leu1906=) c.5779C= (p.Leu1927=) c.5749C= (p.Leu1917=) c.5821C= (p.Leu1941=) | |
| 3 | g.38550494G>T | CA352139597 | SCN5A | c.5875C>A (p.Leu1959Ile) c.5878C>A (p.Leu1960Ile) c.5824C>A (p.Leu1942Ile) c.5716C>A (p.Leu1906Ile) c.5779C>A (p.Leu1927Ile) c.5749C>A (p.Leu1917Ile) c.5821C>A (p.Leu1941Ile) | |
| 3 | g.38550495G>A | CA433331484 | SCN5A | c.5874C>T (p.Pro1958=) c.5877C>T (p.Pro1959=) c.5823C>T (p.Pro1941=) c.5715C>T (p.Pro1905=) c.5778C>T (p.Pro1926=) c.5748C>T (p.Pro1916=) c.5820C>T (p.Pro1940=) | ClinVar |
| 3 | g.38550495G>C | CA433331485 | SCN5A | c.5874C>G (p.Pro1958=) c.5877C>G (p.Pro1959=) c.5823C>G (p.Pro1941=) c.5715C>G (p.Pro1905=) c.5778C>G (p.Pro1926=) c.5748C>G (p.Pro1916=) c.5820C>G (p.Pro1940=) | |
| 3 | g.38550495G>T | CA433331487 | SCN5A | c.5874C>A (p.Pro1958=) c.5877C>A (p.Pro1959=) c.5823C>A (p.Pro1941=) c.5715C>A (p.Pro1905=) c.5778C>A (p.Pro1926=) c.5748C>A (p.Pro1916=) c.5820C>A (p.Pro1940=) | |
| 3 | g.38550496G>A | CA352139601 | SCN5A | c.5873C>T (p.Pro1958Leu) c.5876C>T (p.Pro1959Leu) c.5822C>T (p.Pro1941Leu) c.5714C>T (p.Pro1905Leu) c.5777C>T (p.Pro1926Leu) c.5747C>T (p.Pro1916Leu) c.5819C>T (p.Pro1940Leu) | |
| 3 | g.38550496G>C | CA352139602 | SCN5A | c.5873C>G (p.Pro1958Arg) c.5876C>G (p.Pro1959Arg) c.5822C>G (p.Pro1941Arg) c.5714C>G (p.Pro1905Arg) c.5777C>G (p.Pro1926Arg) c.5747C>G (p.Pro1916Arg) c.5819C>G (p.Pro1940Arg) | ClinVar |
| 3 | g.38550496G>T | CA352139605 | SCN5A | c.5873C>A (p.Pro1958His) c.5876C>A (p.Pro1959His) c.5822C>A (p.Pro1941His) c.5714C>A (p.Pro1905His) c.5777C>A (p.Pro1926His) c.5747C>A (p.Pro1916His) c.5819C>A (p.Pro1940His) | |
| 3 | g.38550497G>A | CA352139607 | SCN5A | c.5872C>T (p.Pro1958Ser) c.5875C>T (p.Pro1959Ser) c.5821C>T (p.Pro1941Ser) c.5713C>T (p.Pro1905Ser) c.5776C>T (p.Pro1926Ser) c.5746C>T (p.Pro1916Ser) c.5818C>T (p.Pro1940Ser) | dbSNP gnomAD v4 |
| 3 | g.38550497G>C | CA352139609 | SCN5A | c.5872C>G (p.Pro1958Ala) c.5875C>G (p.Pro1959Ala) c.5821C>G (p.Pro1941Ala) c.5713C>G (p.Pro1905Ala) c.5776C>G (p.Pro1926Ala) c.5746C>G (p.Pro1916Ala) c.5818C>G (p.Pro1940Ala) | |
| 3 | g.38550497G>T | CA352139610 | SCN5A | c.5872C>A (p.Pro1958Thr) c.5875C>A (p.Pro1959Thr) c.5821C>A (p.Pro1941Thr) c.5713C>A (p.Pro1905Thr) c.5776C>A (p.Pro1926Thr) c.5746C>A (p.Pro1916Thr) c.5818C>A (p.Pro1940Thr) | |
| 3 | g.38550498T>A | CA433331488 | SCN5A | c.5871A>T (p.Arg1957=) c.5874A>T (p.Arg1958=) c.5820A>T (p.Arg1940=) c.5712A>T (p.Arg1904=) c.5775A>T (p.Arg1925=) c.5745A>T (p.Arg1915=) c.5817A>T (p.Arg1939=) | |
| 3 | g.38550498T>C | CA433331492 | SCN5A | c.5871A>G (p.Arg1957=) c.5874A>G (p.Arg1958=) c.5820A>G (p.Arg1940=) c.5712A>G (p.Arg1904=) c.5775A>G (p.Arg1925=) c.5745A>G (p.Arg1915=) c.5817A>G (p.Arg1939=) | |
| 3 | g.38550498T>G | CA433331490 | SCN5A | c.5871A>C (p.Arg1957=) c.5874A>C (p.Arg1958=) c.5820A>C (p.Arg1940=) c.5712A>C (p.Arg1904=) c.5775A>C (p.Arg1925=) c.5745A>C (p.Arg1915=) c.5817A>C (p.Arg1939=) | |
| 3 | g.38550499C>A | CA352139611 | SCN5A | c.5870G>T (p.Arg1957Leu) c.5873G>T (p.Arg1958Leu) c.5819G>T (p.Arg1940Leu) c.5711G>T (p.Arg1904Leu) c.5774G>T (p.Arg1925Leu) c.5744G>T (p.Arg1915Leu) c.5816G>T (p.Arg1939Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550499C= | CA1358555896 | SCN5A | c.5870G= (p.Arg1957=) c.5873G= (p.Arg1958=) c.5819G= (p.Arg1940=) c.5711G= (p.Arg1904=) c.5774G= (p.Arg1925=) c.5744G= (p.Arg1915=) c.5816G= (p.Arg1939=) | |
| 3 | g.38550499C>G | CA352139613 | SCN5A | c.5870G>C (p.Arg1957Pro) c.5873G>C (p.Arg1958Pro) c.5819G>C (p.Arg1940Pro) c.5711G>C (p.Arg1904Pro) c.5774G>C (p.Arg1925Pro) c.5744G>C (p.Arg1915Pro) c.5816G>C (p.Arg1939Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550499C>T | CA019519 | SCN5A | c.5870G>A (p.Arg1957Gln) c.5873G>A (p.Arg1958Gln) c.5819G>A (p.Arg1940Gln) c.5711G>A (p.Arg1904Gln) c.5774G>A (p.Arg1925Gln) c.5744G>A (p.Arg1915Gln) c.5816G>A (p.Arg1939Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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) |