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.38560407_38560452del | CA2665111489 | SCN5A | c.3961-23_3983del c.3964-23_3986del c.3802-23_3824del c.3835-23_3857del | gnomAD v4 |
| 3 | g.38560416C>A | CA017686 | SCN5A | c.3973G>T (p.Ala1325Ser) c.3976G>T (p.Ala1326Ser) c.3814G>T (p.Ala1272Ser) c.3847G>T (p.Ala1283Ser) | ClinVar dbSNP |
| 3 | g.38560416C= | CA1358565777 | SCN5A | c.3973G= (p.Ala1325=) c.3976G= (p.Ala1326=) c.3814G= (p.Ala1272=) c.3847G= (p.Ala1283=) | |
| 3 | g.38560416C>G | CA352147628 | SCN5A | c.3973G>C (p.Ala1325Pro) c.3976G>C (p.Ala1326Pro) c.3814G>C (p.Ala1272Pro) c.3847G>C (p.Ala1283Pro) | |
| 3 | g.38560416C>T | CA352147629 | SCN5A | c.3973G>A (p.Ala1325Thr) c.3976G>A (p.Ala1326Thr) c.3814G>A (p.Ala1272Thr) c.3847G>A (p.Ala1283Thr) | |
| 3 | g.38560417A>C | CA352147631 | SCN5A | c.3972T>G (p.Asn1324Lys) c.3975T>G (p.Asn1325Lys) c.3813T>G (p.Asn1271Lys) c.3846T>G (p.Asn1282Lys) | ClinVar dbSNP |
| 3 | g.38560417A>G | CA433332449 | SCN5A | c.3972T>C (p.Asn1324=) c.3975T>C (p.Asn1325=) c.3813T>C (p.Asn1271=) c.3846T>C (p.Asn1282=) | gnomAD v4 |
| 3 | g.38560417A>T | CA352147630 | SCN5A | c.3972T>A (p.Asn1324Lys) c.3975T>A (p.Asn1325Lys) c.3813T>A (p.Asn1271Lys) c.3846T>A (p.Asn1282Lys) | |
| 3 | g.38560418T>A | CA352147632 | SCN5A | c.3971A>T (p.Asn1324Ile) c.3974A>T (p.Asn1325Ile) c.3812A>T (p.Asn1271Ile) c.3845A>T (p.Asn1282Ile) | |
| 3 | g.38560418T>C | CA017679 | SCN5A | c.3971A>G (p.Asn1324Ser) c.3974A>G (p.Asn1325Ser) c.3812A>G (p.Asn1271Ser) c.3845A>G (p.Asn1282Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38560418T>G | CA352147633 | SCN5A | c.3971A>C (p.Asn1324Thr) c.3974A>C (p.Asn1325Thr) c.3812A>C (p.Asn1271Thr) c.3845A>C (p.Asn1282Thr) | |
| 3 | g.38560418T= | CA1358565778 | SCN5A | c.3971A= (p.Asn1324=) c.3974A= (p.Asn1325=) c.3812A= (p.Asn1271=) c.3845A= (p.Asn1282=) | |
| 3 | g.38560419T>A | CA352147634 | SCN5A | c.3970A>T (p.Asn1324Tyr) c.3973A>T (p.Asn1325Tyr) c.3811A>T (p.Asn1271Tyr) c.3844A>T (p.Asn1282Tyr) | |
| 3 | g.38560419T>C | CA352147635 | SCN5A | c.3970A>G (p.Asn1324Asp) c.3973A>G (p.Asn1325Asp) c.3811A>G (p.Asn1271Asp) c.3844A>G (p.Asn1282Asp) | |
| 3 | g.38560419T>G | CA352147636 | SCN5A | c.3970A>C (p.Asn1324His) c.3973A>C (p.Asn1325His) c.3811A>C (p.Asn1271His) c.3844A>C (p.Asn1282His) | gnomAD v4 |
| 3 | g.38560420G>A | CA433332455 | SCN5A | c.3969C>T (p.Val1323=) c.3972C>T (p.Val1324=) c.3810C>T (p.Val1270=) c.3843C>T (p.Val1281=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38560420G>C | CA433332454 | SCN5A | c.3969C>G (p.Val1323=) c.3972C>G (p.Val1324=) c.3810C>G (p.Val1270=) c.3843C>G (p.Val1281=) | |
| 3 | g.38560420G>T | CA433332453 | SCN5A | c.3969C>A (p.Val1323=) c.3972C>A (p.Val1324=) c.3810C>A (p.Val1270=) c.3843C>A (p.Val1281=) | |
| 3 | g.38560420_38560426delinsGACCACC | CA1358565779 | SCN5A | c.3963_3969delinsGGTGGTC (p.Val1321=) c.3966_3972delinsGGTGGTC (p.Val1322=) c.3804_3810delinsGGTGGTC (p.Val1268=) c.3837_3843delinsGGTGGTC (p.Val1279=) | |
| 3 | g.38560421A>C | CA352147637 | SCN5A | c.3968T>G (p.Val1323Gly) c.3971T>G (p.Val1324Gly) c.3809T>G (p.Val1270Gly) c.3842T>G (p.Val1281Gly) | |
| 3 | g.38560421A>G | CA352147639 | SCN5A | c.3968T>C (p.Val1323Ala) c.3971T>C (p.Val1324Ala) c.3809T>C (p.Val1270Ala) c.3842T>C (p.Val1281Ala) | |
| 3 | g.38560421A>T | CA352147638 | SCN5A | c.3968T>A (p.Val1323Asp) c.3971T>A (p.Val1324Asp) c.3809T>A (p.Val1270Asp) c.3842T>A (p.Val1281Asp) | |
| 3 | g.38560424_38560429del | CA1358565780 | SCN5A | c.3963_3968del c.3966_3971del c.3804_3809del c.3837_3842del | dbSNP |
| 3 | g.38560422C>A | CA352147640 | SCN5A | c.3967G>T (p.Val1323Phe) c.3970G>T (p.Val1324Phe) c.3808G>T (p.Val1270Phe) c.3841G>T (p.Val1281Phe) | |
| 3 | g.38560422C= | CA1358565781 | SCN5A | c.3967G= (p.Val1323=) c.3970G= (p.Val1324=) c.3808G= (p.Val1270=) c.3841G= (p.Val1281=) | |
| 3 | g.38560422C>G | CA352147641 | SCN5A | c.3967G>C (p.Val1323Leu) c.3970G>C (p.Val1324Leu) c.3808G>C (p.Val1270Leu) c.3841G>C (p.Val1281Leu) | |
| 3 | g.38560422C>T | CA352147642 | SCN5A | c.3967G>A (p.Val1323Ile) c.3970G>A (p.Val1324Ile) c.3808G>A (p.Val1270Ile) c.3841G>A (p.Val1281Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38560423C>A | CA433332458 | SCN5A | c.3966G>T (p.Val1322=) c.3969G>T (p.Val1323=) c.3807G>T (p.Val1269=) c.3840G>T (p.Val1280=) | |
| 3 | g.38560423C>G | CA433332459 | SCN5A | c.3966G>C (p.Val1322=) c.3969G>C (p.Val1323=) c.3807G>C (p.Val1269=) c.3840G>C (p.Val1280=) | |
| 3 | g.38560423C>T | CA433332460 | SCN5A | c.3966G>A (p.Val1322=) c.3969G>A (p.Val1323=) c.3807G>A (p.Val1269=) c.3840G>A (p.Val1280=) | |
| 3 | g.38560424A= | CA1358565782 | SCN5A | c.3965T= (p.Val1322=) c.3968T= (p.Val1323=) c.3806T= (p.Val1269=) c.3839T= (p.Val1280=) | |
| 3 | g.38560424A>C | CA017672 | SCN5A | c.3965T>G (p.Val1322Gly) c.3968T>G (p.Val1323Gly) c.3806T>G (p.Val1269Gly) c.3839T>G (p.Val1280Gly) | ClinVar dbSNP |
| 3 | g.38560424A>G | CA352147643 | SCN5A | c.3965T>C (p.Val1322Ala) c.3968T>C (p.Val1323Ala) c.3806T>C (p.Val1269Ala) c.3839T>C (p.Val1280Ala) | |
| 3 | g.38560424A>T | CA352147644 | SCN5A | c.3965T>A (p.Val1322Glu) c.3968T>A (p.Val1323Glu) c.3806T>A (p.Val1269Glu) c.3839T>A (p.Val1280Glu) | |
| 3 | g.38560425C>A | CA352147645 | SCN5A | c.3964G>T (p.Val1322Leu) c.3967G>T (p.Val1323Leu) c.3805G>T (p.Val1269Leu) c.3838G>T (p.Val1280Leu) | |
| 3 | g.38560425C>G | CA352147646 | SCN5A | c.3964G>C (p.Val1322Leu) c.3967G>C (p.Val1323Leu) c.3805G>C (p.Val1269Leu) c.3838G>C (p.Val1280Leu) | |
| 3 | g.38560425C>T | CA352147647 | SCN5A | c.3964G>A (p.Val1322Met) c.3967G>A (p.Val1323Met) c.3805G>A (p.Val1269Met) c.3838G>A (p.Val1280Met) | |
| 3 | g.38560426C>A | CA433332463 | SCN5A | c.3963G>T (p.Val1321=) c.3966G>T (p.Val1322=) c.3804G>T (p.Val1268=) c.3837G>T (p.Val1279=) | |
| 3 | g.38560426C>G | CA433332464 | SCN5A | c.3963G>C (p.Val1321=) c.3966G>C (p.Val1322=) c.3804G>C (p.Val1268=) c.3837G>C (p.Val1279=) | |
| 3 | g.38560426C>T | CA433332465 | SCN5A | c.3963G>A (p.Val1321=) c.3966G>A (p.Val1322=) c.3804G>A (p.Val1268=) c.3837G>A (p.Val1279=) | gnomAD v4 |
| 3 | g.38560427A>C | CA352147648 | SCN5A | c.3962T>G (p.Val1321Gly) c.3965T>G (p.Val1322Gly) c.3803T>G (p.Val1268Gly) c.3836T>G (p.Val1279Gly) | |
| 3 | g.38560427A>G | CA352147649 | SCN5A | c.3962T>C (p.Val1321Ala) c.3965T>C (p.Val1322Ala) c.3803T>C (p.Val1268Ala) c.3836T>C (p.Val1279Ala) | ClinVar dbSNP |
| 3 | g.38560427A>T | CA352147650 | SCN5A | c.3962T>A (p.Val1321Glu) c.3965T>A (p.Val1322Glu) c.3803T>A (p.Val1268Glu) c.3836T>A (p.Val1279Glu) | |
| 3 | g.38560427_38560430delinsACCT | CA1358565783 | SCN5A | c.3961-2_3962delinsAGGT c.3964-2_3965delinsAGGT c.3802-2_3803delinsAGGT c.3835-2_3836delinsAGGT | |
| 3 | g.38560428C>A | CA352147653 | SCN5A | c.3961G>T (p.Val1321Leu) c.3964G>T (p.Val1322Leu) c.3802G>T (p.Val1268Leu) c.3835G>T (p.Val1279Leu) | ClinVar dbSNP |
| 3 | g.38560428C>G | CA352147652 | SCN5A | c.3961G>C (p.Val1321Leu) c.3964G>C (p.Val1322Leu) c.3802G>C (p.Val1268Leu) c.3835G>C (p.Val1279Leu) | |
| 3 | g.38560428C>T | CA352147651 | SCN5A | c.3961G>A (p.Val1321Met) c.3964G>A (p.Val1322Met) c.3802G>A (p.Val1268Met) c.3835G>A (p.Val1279Met) | |
| 3 | g.38560429_38560431del | CA307969 | SCN5A | c.3961-2_3961del c.3964-2_3964del c.3802-2_3802del c.3835-2_3835del | ClinVar dbSNP |
| 3 | g.38560429C>A | CA352147654 | SCN5A | c.3961-1G>T (n.3961-1G>T) c.3964-1G>T (n.3964-1G>T) c.3802-1G>T (n.3802-1G>T) c.3835-1G>T (n.3835-1G>T) | |
| 3 | g.38560429C= | CA1358565784 | SCN5A | c.3961-1G= (n.3961-1G=) c.3964-1G= (n.3964-1G=) c.3802-1G= (n.3802-1G=) c.3835-1G= (n.3835-1G=) |