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.38560280A= | CA1358565704 | SCN5A | c.4109T= (p.Leu1370=) c.4112T= (p.Leu1371=) c.3950T= (p.Leu1317=) c.3983T= (p.Leu1328=) | |
| 3 | g.38560280A>C | CA352146911 | SCN5A | c.4109T>G (p.Leu1370Trp) c.4112T>G (p.Leu1371Trp) c.3950T>G (p.Leu1317Trp) c.3983T>G (p.Leu1328Trp) | |
| 3 | g.38560280A>G | CA352146913 | SCN5A | c.4109T>C (p.Leu1370Ser) c.4112T>C (p.Leu1371Ser) c.3950T>C (p.Leu1317Ser) c.3983T>C (p.Leu1328Ser) | |
| 3 | g.38560280A>T | CA352146916 | SCN5A | c.4109T>A (p.Leu1370Ter) c.4112T>A (p.Leu1371Ter) c.3950T>A (p.Leu1317Ter) c.3983T>A (p.Leu1328Ter) | dbSNP |
| 3 | g.38560281A>C | CA352146918 | SCN5A | c.4108T>G (p.Leu1370Val) c.4111T>G (p.Leu1371Val) c.3949T>G (p.Leu1317Val) c.3982T>G (p.Leu1328Val) | ClinVar |
| 3 | g.38560281A>G | CA433332400 | SCN5A | c.4108T>C (p.Leu1370=) c.4111T>C (p.Leu1371=) c.3949T>C (p.Leu1317=) c.3982T>C (p.Leu1328=) | |
| 3 | g.38560281A>T | CA352146920 | SCN5A | c.4108T>A (p.Leu1370Met) c.4111T>A (p.Leu1371Met) c.3949T>A (p.Leu1317Met) c.3982T>A (p.Leu1328Met) | |
| 3 | g.38560282G>A | CA433332401 | SCN5A | c.4107C>T (p.Asp1369=) c.4110C>T (p.Asp1370=) c.3948C>T (p.Asp1316=) c.3981C>T (p.Asp1327=) | |
| 3 | g.38560282G>C | CA352146925 | SCN5A | c.4107C>G (p.Asp1369Glu) c.4110C>G (p.Asp1370Glu) c.3948C>G (p.Asp1316Glu) c.3981C>G (p.Asp1327Glu) | |
| 3 | g.38560282G>T | CA352146923 | SCN5A | c.4107C>A (p.Asp1369Glu) c.4110C>A (p.Asp1370Glu) c.3948C>A (p.Asp1316Glu) c.3981C>A (p.Asp1327Glu) | |
| 3 | g.38560283T>A | CA352146929 | SCN5A | c.4106A>T (p.Asp1369Val) c.4109A>T (p.Asp1370Val) c.3947A>T (p.Asp1316Val) c.3980A>T (p.Asp1327Val) | |
| 3 | g.38560283T>C | CA017888 | SCN5A | c.4106A>G (p.Asp1369Gly) c.4109A>G (p.Asp1370Gly) c.3947A>G (p.Asp1316Gly) c.3980A>G (p.Asp1327Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560283T>G | CA352146932 | SCN5A | c.4106A>C (p.Asp1369Ala) c.4109A>C (p.Asp1370Ala) c.3947A>C (p.Asp1316Ala) c.3980A>C (p.Asp1327Ala) | dbSNP gnomAD v2 |
| 3 | g.38560283T= | CA1358565705 | SCN5A | c.4106A= (p.Asp1369=) c.4109A= (p.Asp1370=) c.3947A= (p.Asp1316=) c.3980A= (p.Asp1327=) | |
| 3 | g.38560284C>A | CA352146936 | SCN5A | c.4105G>T (p.Asp1369Tyr) c.4108G>T (p.Asp1370Tyr) c.3946G>T (p.Asp1316Tyr) c.3979G>T (p.Asp1327Tyr) | COSMIC COSMIC COSMIC |
| 3 | g.38560284C>G | CA352146939 | SCN5A | c.4105G>C (p.Asp1369His) c.4108G>C (p.Asp1370His) c.3946G>C (p.Asp1316His) c.3979G>C (p.Asp1327His) | |
| 3 | g.38560284C>T | CA352146941 | SCN5A | c.4105G>A (p.Asp1369Asn) c.4108G>A (p.Asp1370Asn) c.3946G>A (p.Asp1316Asn) c.3979G>A (p.Asp1327Asn) | ClinVar |
| 3 | g.38560285T>A | CA433332402 | SCN5A | c.4104A>T (p.Gly1368=) c.4107A>T (p.Gly1369=) c.3945A>T (p.Gly1315=) c.3978A>T (p.Gly1326=) | |
| 3 | g.38560285T>C | CA433332403 | SCN5A | c.4104A>G (p.Gly1368=) c.4107A>G (p.Gly1369=) c.3945A>G (p.Gly1315=) c.3978A>G (p.Gly1326=) | |
| 3 | g.38560285T>G | CA433332404 | SCN5A | c.4104A>C (p.Gly1368=) c.4107A>C (p.Gly1369=) c.3945A>C (p.Gly1315=) c.3978A>C (p.Gly1326=) | |
| 3 | g.38560286C>A | CA352146945 | SCN5A | c.4103G>T (p.Gly1368Val) c.4106G>T (p.Gly1369Val) c.3944G>T (p.Gly1315Val) c.3977G>T (p.Gly1326Val) | |
| 3 | g.38560286C>G | CA352146942 | SCN5A | c.4103G>C (p.Gly1368Ala) c.4106G>C (p.Gly1369Ala) c.3944G>C (p.Gly1315Ala) c.3977G>C (p.Gly1326Ala) | |
| 3 | g.38560286C>T | CA352146944 | SCN5A | c.4103G>A (p.Gly1368Glu) c.4106G>A (p.Gly1369Glu) c.3944G>A (p.Gly1315Glu) c.3977G>A (p.Gly1326Glu) | ClinVar |
| 3 | g.38560287C>A | CA352146947 | SCN5A | c.4102G>T (p.Gly1368Ter) c.4105G>T (p.Gly1369Ter) c.3943G>T (p.Gly1315Ter) c.3976G>T (p.Gly1326Ter) | dbSNP |
| 3 | g.38560287C= | CA1358565706 | SCN5A | c.4102G= (p.Gly1368=) c.4105G= (p.Gly1369=) c.3943G= (p.Gly1315=) c.3976G= (p.Gly1326=) | |
| 3 | g.38560287C>G | CA352146949 | SCN5A | c.4102G>C (p.Gly1368Arg) c.4105G>C (p.Gly1369Arg) c.3943G>C (p.Gly1315Arg) c.3976G>C (p.Gly1326Arg) | |
| 3 | g.38560287C>T | CA352146952 | SCN5A | c.4102G>A (p.Gly1368Arg) c.4105G>A (p.Gly1369Arg) c.3943G>A (p.Gly1315Arg) c.3976G>A (p.Gly1326Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38560288C>A | CA352146955 | SCN5A | c.4101G>T (p.Glu1367Asp) c.4104G>T (p.Glu1368Asp) c.3942G>T (p.Glu1314Asp) c.3975G>T (p.Glu1325Asp) | |
| 3 | g.38560288C>G | CA352146957 | SCN5A | c.4101G>C (p.Glu1367Asp) c.4104G>C (p.Glu1368Asp) c.3942G>C (p.Glu1314Asp) c.3975G>C (p.Glu1325Asp) | |
| 3 | g.38560288C>T | CA433332406 | SCN5A | c.4101G>A (p.Glu1367=) c.4104G>A (p.Glu1368=) c.3942G>A (p.Glu1314=) c.3975G>A (p.Glu1325=) | |
| 3 | g.38560289T>A | CA352146960 | SCN5A | c.4100A>T (p.Glu1367Val) c.4103A>T (p.Glu1368Val) c.3941A>T (p.Glu1314Val) c.3974A>T (p.Glu1325Val) | |
| 3 | g.38560289T>C | CA352146964 | SCN5A | c.4100A>G (p.Glu1367Gly) c.4103A>G (p.Glu1368Gly) c.3941A>G (p.Glu1314Gly) c.3974A>G (p.Glu1325Gly) | |
| 3 | g.38560289T>G | CA352146962 | SCN5A | c.4100A>C (p.Glu1367Ala) c.4103A>C (p.Glu1368Ala) c.3941A>C (p.Glu1314Ala) c.3974A>C (p.Glu1325Ala) | |
| 3 | g.38560290C>A | CA352146968 | SCN5A | c.4099G>T (p.Glu1367Ter) c.4102G>T (p.Glu1368Ter) c.3940G>T (p.Glu1314Ter) c.3973G>T (p.Glu1325Ter) | dbSNP |
| 3 | g.38560290C= | CA1358565707 | SCN5A | c.4099G= (p.Glu1367=) c.4102G= (p.Glu1368=) c.3940G= (p.Glu1314=) c.3973G= (p.Glu1325=) | |
| 3 | g.38560290C>G | CA352146971 | SCN5A | c.4099G>C (p.Glu1367Gln) c.4102G>C (p.Glu1368Gln) c.3940G>C (p.Glu1314Gln) c.3973G>C (p.Glu1325Gln) | |
| 3 | g.38560290C>T | CA352146973 | SCN5A | c.4099G>A (p.Glu1367Lys) c.4102G>A (p.Glu1368Lys) c.3940G>A (p.Glu1314Lys) c.3973G>A (p.Glu1325Lys) | |
| 3 | g.38560291T>A | CA433332408 | SCN5A | c.4098A>T (p.Thr1366=) c.4101A>T (p.Thr1367=) c.3939A>T (p.Thr1313=) c.3972A>T (p.Thr1324=) | |
| 3 | g.38560291T>C | CA062842 | SCN5A | c.4098A>G (p.Thr1366=) c.4101A>G (p.Thr1367=) c.3939A>G (p.Thr1313=) c.3972A>G (p.Thr1324=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560291T>G | CA433332409 | SCN5A | c.4098A>C (p.Thr1366=) c.4101A>C (p.Thr1367=) c.3939A>C (p.Thr1313=) c.3972A>C (p.Thr1324=) | |
| 3 | g.38560291T= | CA1358565708 | SCN5A | c.4098A= (p.Thr1366=) c.4101A= (p.Thr1367=) c.3939A= (p.Thr1313=) c.3972A= (p.Thr1324=) | |
| 3 | g.38560292G>A | CA352146980 | SCN5A | c.4097C>T (p.Thr1366Ile) c.4100C>T (p.Thr1367Ile) c.3938C>T (p.Thr1313Ile) c.3971C>T (p.Thr1324Ile) | gnomAD v4 |
| 3 | g.38560292G>C | CA352146982 | SCN5A | c.4097C>G (p.Thr1366Arg) c.4100C>G (p.Thr1367Arg) c.3938C>G (p.Thr1313Arg) c.3971C>G (p.Thr1324Arg) | |
| 3 | g.38560292G>T | CA352146985 | SCN5A | c.4097C>A (p.Thr1366Lys) c.4100C>A (p.Thr1367Lys) c.3938C>A (p.Thr1313Lys) c.3971C>A (p.Thr1324Lys) | |
| 3 | g.38560293T>A | CA352146987 | SCN5A | c.4096A>T (p.Thr1366Ser) c.4099A>T (p.Thr1367Ser) c.3937A>T (p.Thr1313Ser) c.3970A>T (p.Thr1324Ser) | |
| 3 | g.38560293T>C | CA352146990 | SCN5A | c.4096A>G (p.Thr1366Ala) c.4099A>G (p.Thr1367Ala) c.3937A>G (p.Thr1313Ala) c.3970A>G (p.Thr1324Ala) | |
| 3 | g.38560293T>G | CA352146994 | SCN5A | c.4096A>C (p.Thr1366Pro) c.4099A>C (p.Thr1367Pro) c.3937A>C (p.Thr1313Pro) c.3970A>C (p.Thr1324Pro) | ClinVar dbSNP |
| 3 | g.38560293T= | CA1358565709 | SCN5A | c.4096A= (p.Thr1366=) c.4099A= (p.Thr1367=) c.3937A= (p.Thr1313=) c.3970A= (p.Thr1324=) | |
| 3 | g.38560294C>A | CA062827 | SCN5A | c.4095G>T (p.Gln1365His) c.4098G>T (p.Gln1366His) c.3936G>T (p.Gln1312His) c.3969G>T (p.Gln1323His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38560294C= | CA1358565710 | SCN5A | c.4095G= (p.Gln1365=) c.4098G= (p.Gln1366=) c.3936G= (p.Gln1312=) c.3969G= (p.Gln1323=) |