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.38894849C>A | CA2322025 | SCN11A | c.2519G>T (p.Arg840Leu) c.2339G>T (p.Arg780Leu) c.2563G>T (n.2563G>T) c.2138G>T (p.Arg713Leu) c.1856G>T (p.Arg619Leu) c.1067G>T (p.Arg356Leu) c.2894G>T (p.Arg965Leu) c.2321G>T (p.Arg774Leu) c.2246G>T (p.Arg749Leu) c.923G>T (p.Arg308Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38894849C= | CA1358718256 | SCN11A | c.2519G= (p.Arg840=) c.2339G= (p.Arg780=) c.2563G= (n.2563G=) c.2138G= (p.Arg713=) c.1856G= (p.Arg619=) c.1067G= (p.Arg356=) c.2894G= (p.Arg965=) c.2321G= (p.Arg774=) c.2246G= (p.Arg749=) c.923G= (p.Arg308=) | |
| 3 | g.38894849C>G | CA352174968 | SCN11A | c.2519G>C (p.Arg840Pro) c.2339G>C (p.Arg780Pro) c.2563G>C (n.2563G>C) c.2138G>C (p.Arg713Pro) c.1856G>C (p.Arg619Pro) c.1067G>C (p.Arg356Pro) c.2894G>C (p.Arg965Pro) c.2321G>C (p.Arg774Pro) c.2246G>C (p.Arg749Pro) c.923G>C (p.Arg308Pro) | |
| 3 | g.38894849C>T | CA2322024 | SCN11A | c.2519G>A (p.Arg840His) c.2339G>A (p.Arg780His) c.2563G>A (n.2563G>A) c.2138G>A (p.Arg713His) c.1856G>A (p.Arg619His) c.1067G>A (p.Arg356His) c.2894G>A (p.Arg965His) c.2321G>A (p.Arg774His) c.2246G>A (p.Arg749His) c.923G>A (p.Arg308His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38894850G>A | CA2322026 | SCN11A | c.2518C>T (p.Arg840Cys) c.2338C>T (p.Arg780Cys) c.2562C>T (n.2562C>T) c.2137C>T (p.Arg713Cys) c.1855C>T (p.Arg619Cys) c.1066C>T (p.Arg356Cys) c.2893C>T (p.Arg965Cys) c.2320C>T (p.Arg774Cys) c.2245C>T (p.Arg749Cys) c.922C>T (p.Arg308Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38894850G>C | CA352174969 | SCN11A | c.2518C>G (p.Arg840Gly) c.2338C>G (p.Arg780Gly) c.2562C>G (n.2562C>G) c.2137C>G (p.Arg713Gly) c.1855C>G (p.Arg619Gly) c.1066C>G (p.Arg356Gly) c.2893C>G (p.Arg965Gly) c.2320C>G (p.Arg774Gly) c.2245C>G (p.Arg749Gly) c.922C>G (p.Arg308Gly) | |
| 3 | g.38894850G= | CA1358718257 | SCN11A | c.2518C= (p.Arg840=) c.2338C= (p.Arg780=) c.2562C= (n.2562C=) c.2137C= (p.Arg713=) c.1855C= (p.Arg619=) c.1066C= (p.Arg356=) c.2893C= (p.Arg965=) c.2320C= (p.Arg774=) c.2245C= (p.Arg749=) c.922C= (p.Arg308=) | |
| 3 | g.38894850G>T | CA352174970 | SCN11A | c.2518C>A (p.Arg840Ser) c.2338C>A (p.Arg780Ser) c.2562C>A (n.2562C>A) c.2137C>A (p.Arg713Ser) c.1855C>A (p.Arg619Ser) c.1066C>A (p.Arg356Ser) c.2893C>A (p.Arg965Ser) c.2320C>A (p.Arg774Ser) c.2245C>A (p.Arg749Ser) c.922C>A (p.Arg308Ser) | |
| 3 | g.38894851G>A | CA433336169 | SCN11A | c.2517C>T (p.Phe839=) c.2337C>T (p.Phe779=) c.2561C>T (n.2561C>T) c.2136C>T (p.Phe712=) c.1854C>T (p.Phe618=) c.1065C>T (p.Phe355=) c.2892C>T (p.Phe964=) c.2319C>T (p.Phe773=) c.2244C>T (p.Phe748=) c.921C>T (p.Phe307=) | ClinVar dbSNP |
| 3 | g.38894851G>C | CA352174972 | SCN11A | c.2517C>G (p.Phe839Leu) c.2337C>G (p.Phe779Leu) c.2561C>G (n.2561C>G) c.2136C>G (p.Phe712Leu) c.1854C>G (p.Phe618Leu) c.1065C>G (p.Phe355Leu) c.2892C>G (p.Phe964Leu) c.2319C>G (p.Phe773Leu) c.2244C>G (p.Phe748Leu) c.921C>G (p.Phe307Leu) | ClinVar dbSNP |
| 3 | g.38894851G= | CA1358718258 | SCN11A | c.2517C= (p.Phe839=) c.2337C= (p.Phe779=) c.2561C= (n.2561C=) c.2136C= (p.Phe712=) c.1854C= (p.Phe618=) c.1065C= (p.Phe355=) c.2892C= (p.Phe964=) c.2319C= (p.Phe773=) c.2244C= (p.Phe748=) c.921C= (p.Phe307=) | |
| 3 | g.38894851G>T | CA352174971 | SCN11A | c.2517C>A (p.Phe839Leu) c.2337C>A (p.Phe779Leu) c.2561C>A (n.2561C>A) c.2136C>A (p.Phe712Leu) c.1854C>A (p.Phe618Leu) c.1065C>A (p.Phe355Leu) c.2892C>A (p.Phe964Leu) c.2319C>A (p.Phe773Leu) c.2244C>A (p.Phe748Leu) c.921C>A (p.Phe307Leu) | |
| 3 | g.38894852A= | CA1358718259 | SCN11A | c.2516T= (p.Phe839=) c.2336T= (p.Phe779=) c.2560T= (n.2560T=) c.2135T= (p.Phe712=) c.1853T= (p.Phe618=) c.1064T= (p.Phe355=) c.2891T= (p.Phe964=) c.2318T= (p.Phe773=) c.2243T= (p.Phe748=) c.920T= (p.Phe307=) | |
| 3 | g.38894852A>C | CA352174973 | SCN11A | c.2516T>G (p.Phe839Cys) c.2336T>G (p.Phe779Cys) c.2560T>G (n.2560T>G) c.2135T>G (p.Phe712Cys) c.1853T>G (p.Phe618Cys) c.1064T>G (p.Phe355Cys) c.2891T>G (p.Phe964Cys) c.2318T>G (p.Phe773Cys) c.2243T>G (p.Phe748Cys) c.920T>G (p.Phe307Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38894852A>G | CA352174974 | SCN11A | c.2516T>C (p.Phe839Ser) c.2336T>C (p.Phe779Ser) c.2560T>C (n.2560T>C) c.2135T>C (p.Phe712Ser) c.1853T>C (p.Phe618Ser) c.1064T>C (p.Phe355Ser) c.2891T>C (p.Phe964Ser) c.2318T>C (p.Phe773Ser) c.2243T>C (p.Phe748Ser) c.920T>C (p.Phe307Ser) | gnomAD v4 |
| 3 | g.38894852A>T | CA352174975 | SCN11A | c.2516T>A (p.Phe839Tyr) c.2336T>A (p.Phe779Tyr) c.2560T>A (n.2560T>A) c.2135T>A (p.Phe712Tyr) c.1853T>A (p.Phe618Tyr) c.1064T>A (p.Phe355Tyr) c.2891T>A (p.Phe964Tyr) c.2318T>A (p.Phe773Tyr) c.2243T>A (p.Phe748Tyr) c.920T>A (p.Phe307Tyr) | |
| 3 | g.38894853A>C | CA352174976 | SCN11A | c.2515T>G (p.Phe839Val) c.2335T>G (p.Phe779Val) c.2559T>G (n.2559T>G) c.2134T>G (p.Phe712Val) c.1852T>G (p.Phe618Val) c.1063T>G (p.Phe355Val) c.2890T>G (p.Phe964Val) c.2317T>G (p.Phe773Val) c.2242T>G (p.Phe748Val) c.919T>G (p.Phe307Val) | |
| 3 | g.38894853A>G | CA352174977 | SCN11A | c.2515T>C (p.Phe839Leu) c.2335T>C (p.Phe779Leu) c.2559T>C (n.2559T>C) c.2134T>C (p.Phe712Leu) c.1852T>C (p.Phe618Leu) c.1063T>C (p.Phe355Leu) c.2890T>C (p.Phe964Leu) c.2317T>C (p.Phe773Leu) c.2242T>C (p.Phe748Leu) c.919T>C (p.Phe307Leu) | |
| 3 | g.38894853A>T | CA352174978 | SCN11A | c.2515T>A (p.Phe839Ile) c.2335T>A (p.Phe779Ile) c.2559T>A (n.2559T>A) c.2134T>A (p.Phe712Ile) c.1852T>A (p.Phe618Ile) c.1063T>A (p.Phe355Ile) c.2890T>A (p.Phe964Ile) c.2317T>A (p.Phe773Ile) c.2242T>A (p.Phe748Ile) c.919T>A (p.Phe307Ile) | |
| 3 | g.38894854T>A | CA433336170 | SCN11A | c.2514A>T (p.Arg838=) c.2334A>T (p.Arg778=) c.2558A>T (n.2558A>T) c.2133A>T (p.Arg711=) c.1851A>T (p.Arg617=) c.1062A>T (p.Arg354=) c.2889A>T (p.Arg963=) c.2316A>T (p.Arg772=) c.2241A>T (p.Arg747=) c.918A>T (p.Arg306=) | gnomAD v4 |
| 3 | g.38894854T>C | CA433336171 | SCN11A | c.2514A>G (p.Arg838=) c.2334A>G (p.Arg778=) c.2558A>G (n.2558A>G) c.2133A>G (p.Arg711=) c.1851A>G (p.Arg617=) c.1062A>G (p.Arg354=) c.2889A>G (p.Arg963=) c.2316A>G (p.Arg772=) c.2241A>G (p.Arg747=) c.918A>G (p.Arg306=) | |
| 3 | g.38894854T>G | CA433336173 | SCN11A | c.2514A>C (p.Arg838=) c.2334A>C (p.Arg778=) c.2558A>C (n.2558A>C) c.2133A>C (p.Arg711=) c.1851A>C (p.Arg617=) c.1062A>C (p.Arg354=) c.2889A>C (p.Arg963=) c.2316A>C (p.Arg772=) c.2241A>C (p.Arg747=) c.918A>C (p.Arg306=) | |
| 3 | g.38894855C>A | CA352174979 | SCN11A | c.2513G>T (p.Arg838Leu) c.2333G>T (p.Arg778Leu) c.2557G>T (n.2557G>T) c.2132G>T (p.Arg711Leu) c.1850G>T (p.Arg617Leu) c.1061G>T (p.Arg354Leu) c.2888G>T (p.Arg963Leu) c.2315G>T (p.Arg772Leu) c.2240G>T (p.Arg747Leu) c.917G>T (p.Arg306Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38894855C= | CA1358718260 | SCN11A | c.2513G= (p.Arg838=) c.2333G= (p.Arg778=) c.2557G= (n.2557G=) c.2132G= (p.Arg711=) c.1850G= (p.Arg617=) c.1061G= (p.Arg354=) c.2888G= (p.Arg963=) c.2315G= (p.Arg772=) c.2240G= (p.Arg747=) c.917G= (p.Arg306=) | |
| 3 | g.38894855C>G | CA352174980 | SCN11A | c.2513G>C (p.Arg838Pro) c.2333G>C (p.Arg778Pro) c.2557G>C (n.2557G>C) c.2132G>C (p.Arg711Pro) c.1850G>C (p.Arg617Pro) c.1061G>C (p.Arg354Pro) c.2888G>C (p.Arg963Pro) c.2315G>C (p.Arg772Pro) c.2240G>C (p.Arg747Pro) c.917G>C (p.Arg306Pro) | |
| 3 | g.38894855C>T | CA2322027 | SCN11A | c.2513G>A (p.Arg838Gln) c.2333G>A (p.Arg778Gln) c.2557G>A (n.2557G>A) c.2132G>A (p.Arg711Gln) c.1850G>A (p.Arg617Gln) c.1061G>A (p.Arg354Gln) c.2888G>A (p.Arg963Gln) c.2315G>A (p.Arg772Gln) c.2240G>A (p.Arg747Gln) c.917G>A (p.Arg306Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894856G>A | CA2322028 | SCN11A | c.2512C>T (p.Arg838Ter) c.2332C>T (p.Arg778Ter) c.2556C>T (n.2556C>T) c.2131C>T (p.Arg711Ter) c.1849C>T (p.Arg617Ter) c.1060C>T (p.Arg354Ter) c.2887C>T (p.Arg963Ter) c.2314C>T (p.Arg772Ter) c.2239C>T (p.Arg747Ter) c.916C>T (p.Arg306Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38894856G>C | CA352174981 | SCN11A | c.2512C>G (p.Arg838Gly) c.2332C>G (p.Arg778Gly) c.2556C>G (n.2556C>G) c.2131C>G (p.Arg711Gly) c.1849C>G (p.Arg617Gly) c.1060C>G (p.Arg354Gly) c.2887C>G (p.Arg963Gly) c.2314C>G (p.Arg772Gly) c.2239C>G (p.Arg747Gly) c.916C>G (p.Arg306Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38894856G= | CA1358718261 | SCN11A | c.2512C= (p.Arg838=) c.2332C= (p.Arg778=) c.2556C= (n.2556C=) c.2131C= (p.Arg711=) c.1849C= (p.Arg617=) c.1060C= (p.Arg354=) c.2887C= (p.Arg963=) c.2314C= (p.Arg772=) c.2239C= (p.Arg747=) c.916C= (p.Arg306=) | |
| 3 | g.38894856G>T | CA433336175 | SCN11A | c.2512C>A (p.Arg838=) c.2332C>A (p.Arg778=) c.2556C>A (n.2556C>A) c.2131C>A (p.Arg711=) c.1849C>A (p.Arg617=) c.1060C>A (p.Arg354=) c.2887C>A (p.Arg963=) c.2314C>A (p.Arg772=) c.2239C>A (p.Arg747=) c.916C>A (p.Arg306=) | gnomAD v4 |
| 3 | g.38894857A= | CA1358718262 | SCN11A | c.2511T= (p.Asp837=) c.2331T= (p.Asp777=) c.2555T= (n.2555T=) c.2130T= (p.Asp710=) c.1848T= (p.Asp616=) c.1059T= (p.Asp353=) c.2886T= (p.Asp962=) c.2313T= (p.Asp771=) c.2238T= (p.Asp746=) c.915T= (p.Asp305=) | |
| 3 | g.38894857A>C | CA352174982 | SCN11A | c.2511T>G (p.Asp837Glu) c.2331T>G (p.Asp777Glu) c.2555T>G (n.2555T>G) c.2130T>G (p.Asp710Glu) c.1848T>G (p.Asp616Glu) c.1059T>G (p.Asp353Glu) c.2886T>G (p.Asp962Glu) c.2313T>G (p.Asp771Glu) c.2238T>G (p.Asp746Glu) c.915T>G (p.Asp305Glu) | |
| 3 | g.38894857A>G | CA433336176 | SCN11A | c.2511T>C (p.Asp837=) c.2331T>C (p.Asp777=) c.2555T>C (n.2555T>C) c.2130T>C (p.Asp710=) c.1848T>C (p.Asp616=) c.1059T>C (p.Asp353=) c.2886T>C (p.Asp962=) c.2313T>C (p.Asp771=) c.2238T>C (p.Asp746=) c.915T>C (p.Asp305=) | dbSNP |
| 3 | g.38894857A>T | CA352174983 | SCN11A | c.2511T>A (p.Asp837Glu) c.2331T>A (p.Asp777Glu) c.2555T>A (n.2555T>A) c.2130T>A (p.Asp710Glu) c.1848T>A (p.Asp616Glu) c.1059T>A (p.Asp353Glu) c.2886T>A (p.Asp962Glu) c.2313T>A (p.Asp771Glu) c.2238T>A (p.Asp746Glu) c.915T>A (p.Asp305Glu) | |
| 3 | g.38894858T>A | CA352174984 | SCN11A | c.2510A>T (p.Asp837Val) c.2330A>T (p.Asp777Val) c.2554A>T (n.2554A>T) c.2129A>T (p.Asp710Val) c.1847A>T (p.Asp616Val) c.1058A>T (p.Asp353Val) c.2885A>T (p.Asp962Val) c.2312A>T (p.Asp771Val) c.2237A>T (p.Asp746Val) c.914A>T (p.Asp305Val) | |
| 3 | g.38894858T>C | CA352174986 | SCN11A | c.2510A>G (p.Asp837Gly) c.2330A>G (p.Asp777Gly) c.2554A>G (n.2554A>G) c.2129A>G (p.Asp710Gly) c.1847A>G (p.Asp616Gly) c.1058A>G (p.Asp353Gly) c.2885A>G (p.Asp962Gly) c.2312A>G (p.Asp771Gly) c.2237A>G (p.Asp746Gly) c.914A>G (p.Asp305Gly) | gnomAD v4 |
| 3 | g.38894858T>G | CA352174985 | SCN11A | c.2510A>C (p.Asp837Ala) c.2330A>C (p.Asp777Ala) c.2554A>C (n.2554A>C) c.2129A>C (p.Asp710Ala) c.1847A>C (p.Asp616Ala) c.1058A>C (p.Asp353Ala) c.2885A>C (p.Asp962Ala) c.2312A>C (p.Asp771Ala) c.2237A>C (p.Asp746Ala) c.914A>C (p.Asp305Ala) | |
| 3 | g.38894859C>A | CA352174987 | SCN11A | c.2509G>T (p.Asp837Tyr) c.2329G>T (p.Asp777Tyr) c.2553G>T (n.2553G>T) c.2128G>T (p.Asp710Tyr) c.1846G>T (p.Asp616Tyr) c.1057G>T (p.Asp353Tyr) c.2884G>T (p.Asp962Tyr) c.2311G>T (p.Asp771Tyr) c.2236G>T (p.Asp746Tyr) c.913G>T (p.Asp305Tyr) | |
| 3 | g.38894859C= | CA1358718263 | SCN11A | c.2509G= (p.Asp837=) c.2329G= (p.Asp777=) c.2553G= (n.2553G=) c.2128G= (p.Asp710=) c.1846G= (p.Asp616=) c.1057G= (p.Asp353=) c.2884G= (p.Asp962=) c.2311G= (p.Asp771=) c.2236G= (p.Asp746=) c.913G= (p.Asp305=) | |
| 3 | g.38894859C>G | CA352174988 | SCN11A | c.2509G>C (p.Asp837His) c.2329G>C (p.Asp777His) c.2553G>C (n.2553G>C) c.2128G>C (p.Asp710His) c.1846G>C (p.Asp616His) c.1057G>C (p.Asp353His) c.2884G>C (p.Asp962His) c.2311G>C (p.Asp771His) c.2236G>C (p.Asp746His) c.913G>C (p.Asp305His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38894859C>T | CA352174989 | SCN11A | c.2509G>A (p.Asp837Asn) c.2329G>A (p.Asp777Asn) c.2553G>A (n.2553G>A) c.2128G>A (p.Asp710Asn) c.1846G>A (p.Asp616Asn) c.1057G>A (p.Asp353Asn) c.2884G>A (p.Asp962Asn) c.2311G>A (p.Asp771Asn) c.2236G>A (p.Asp746Asn) c.913G>A (p.Asp305Asn) | |
| 3 | g.38894860_38894869del | CA2577554818 | SCN11A | c.2500_2509del (p.Leu834IlefsTer10) c.2320_2329del (p.Leu774IlefsTer10) c.2544_2553del (n.2544_2553del) c.2119_2128del (p.Leu707IlefsTer10) c.1837_1846del (p.Leu613IlefsTer10) c.1048_1057del (p.Leu350IlefsTer10) c.2875_2884del (p.Leu959IlefsTer10) c.2302_2311del (p.Leu768IlefsTer10) c.2227_2236del (p.Leu743IlefsTer10) c.904_913del (p.Leu302IlefsTer10) | |
| 3 | g.38894860C>A | CA72997821 | SCN11A | c.2508G>T (p.Leu836=) c.2328G>T (p.Leu776=) c.2552G>T (n.2552G>T) c.2127G>T (p.Leu709=) c.1845G>T (p.Leu615=) c.1056G>T (p.Leu352=) c.2883G>T (p.Leu961=) c.2310G>T (p.Leu770=) c.2235G>T (p.Leu745=) c.912G>T (p.Leu304=) | dbSNP |
| 3 | g.38894860C= | CA1358718264 | SCN11A | c.2508G= (p.Leu836=) c.2328G= (p.Leu776=) c.2552G= (n.2552G=) c.2127G= (p.Leu709=) c.1845G= (p.Leu615=) c.1056G= (p.Leu352=) c.2883G= (p.Leu961=) c.2310G= (p.Leu770=) c.2235G= (p.Leu745=) c.912G= (p.Leu304=) | |
| 3 | g.38894860C>G | CA433336178 | SCN11A | c.2508G>C (p.Leu836=) c.2328G>C (p.Leu776=) c.2552G>C (n.2552G>C) c.2127G>C (p.Leu709=) c.1845G>C (p.Leu615=) c.1056G>C (p.Leu352=) c.2883G>C (p.Leu961=) c.2310G>C (p.Leu770=) c.2235G>C (p.Leu745=) c.912G>C (p.Leu304=) | |
| 3 | g.38894860C>T | CA433336179 | SCN11A | c.2508G>A (p.Leu836=) c.2328G>A (p.Leu776=) c.2552G>A (n.2552G>A) c.2127G>A (p.Leu709=) c.1845G>A (p.Leu615=) c.1056G>A (p.Leu352=) c.2883G>A (p.Leu961=) c.2310G>A (p.Leu770=) c.2235G>A (p.Leu745=) c.912G>A (p.Leu304=) | |
| 3 | g.38894861A>C | CA352174990 | SCN11A | c.2507T>G (p.Leu836Arg) c.2327T>G (p.Leu776Arg) c.2551T>G (n.2551T>G) c.2126T>G (p.Leu709Arg) c.1844T>G (p.Leu615Arg) c.1055T>G (p.Leu352Arg) c.2882T>G (p.Leu961Arg) c.2309T>G (p.Leu770Arg) c.2234T>G (p.Leu745Arg) c.911T>G (p.Leu304Arg) | |
| 3 | g.38894861A>G | CA352174991 | SCN11A | c.2507T>C (p.Leu836Pro) c.2327T>C (p.Leu776Pro) c.2551T>C (n.2551T>C) c.2126T>C (p.Leu709Pro) c.1844T>C (p.Leu615Pro) c.1055T>C (p.Leu352Pro) c.2882T>C (p.Leu961Pro) c.2309T>C (p.Leu770Pro) c.2234T>C (p.Leu745Pro) c.911T>C (p.Leu304Pro) | |
| 3 | g.38894861A>T | CA352174992 | SCN11A | c.2507T>A (p.Leu836Gln) c.2327T>A (p.Leu776Gln) c.2551T>A (n.2551T>A) c.2126T>A (p.Leu709Gln) c.1844T>A (p.Leu615Gln) c.1055T>A (p.Leu352Gln) c.2882T>A (p.Leu961Gln) c.2309T>A (p.Leu770Gln) c.2234T>A (p.Leu745Gln) c.911T>A (p.Leu304Gln) | |
| 3 | g.38894862G>A | CA433336180 | SCN11A | c.2506C>T (p.Leu836=) c.2326C>T (p.Leu776=) c.2550C>T (n.2550C>T) c.2125C>T (p.Leu709=) c.1843C>T (p.Leu615=) c.1054C>T (p.Leu352=) c.2881C>T (p.Leu961=) c.2308C>T (p.Leu770=) c.2233C>T (p.Leu745=) c.910C>T (p.Leu304=) | gnomAD v4 |