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.38575340T>A | CA352138063 | SCN5A | c.3620A>T (p.Glu1207Val) c.3623A>T (p.Glu1208Val) c.3461A>T (p.Glu1154Val) c.3494A>T (p.Glu1165Val) | |
| 3 | g.38575340T>C | CA352138064 | SCN5A | c.3620A>G (p.Glu1207Gly) c.3623A>G (p.Glu1208Gly) c.3461A>G (p.Glu1154Gly) c.3494A>G (p.Glu1165Gly) | COSMIC COSMIC COSMIC |
| 3 | g.38575340T>G | CA352138065 | SCN5A | c.3620A>C (p.Glu1207Ala) c.3623A>C (p.Glu1208Ala) c.3461A>C (p.Glu1154Ala) c.3494A>C (p.Glu1165Ala) | |
| 3 | g.38575341C>A | CA10602904 | SCN5A | c.3619G>T (p.Glu1207Ter) c.3622G>T (p.Glu1208Ter) c.3460G>T (p.Glu1154Ter) c.3493G>T (p.Glu1165Ter) | ClinVar dbSNP |
| 3 | g.38575341C= | CA1358572538 | SCN5A | c.3619G= (p.Glu1207=) c.3622G= (p.Glu1208=) c.3460G= (p.Glu1154=) c.3493G= (p.Glu1165=) | |
| 3 | g.38575341C>G | CA352138066 | SCN5A | c.3619G>C (p.Glu1207Gln) c.3622G>C (p.Glu1208Gln) c.3460G>C (p.Glu1154Gln) c.3493G>C (p.Glu1165Gln) | |
| 3 | g.38575341C>T | CA062091 | SCN5A | c.3619G>A (p.Glu1207Lys) c.3622G>A (p.Glu1208Lys) c.3460G>A (p.Glu1154Lys) c.3493G>A (p.Glu1165Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38575342G>A | CA017335 | SCN5A | c.3618C>T (p.Phe1206=) c.3621C>T (p.Phe1207=) c.3459C>T (p.Phe1153=) c.3492C>T (p.Phe1164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38575342G>C | CA352138068 | SCN5A | c.3618C>G (p.Phe1206Leu) c.3621C>G (p.Phe1207Leu) c.3459C>G (p.Phe1153Leu) c.3492C>G (p.Phe1164Leu) | |
| 3 | g.38575342G= | CA1358572539 | SCN5A | c.3618C= (p.Phe1206=) c.3621C= (p.Phe1207=) c.3459C= (p.Phe1153=) c.3492C= (p.Phe1164=) | |
| 3 | g.38575342G>T | CA352138067 | SCN5A | c.3618C>A (p.Phe1206Leu) c.3621C>A (p.Phe1207Leu) c.3459C>A (p.Phe1153Leu) c.3492C>A (p.Phe1164Leu) | |
| 3 | g.38575343A>C | CA352138069 | SCN5A | c.3617T>G (p.Phe1206Cys) c.3620T>G (p.Phe1207Cys) c.3458T>G (p.Phe1153Cys) c.3491T>G (p.Phe1164Cys) | |
| 3 | g.38575343A>G | CA352138071 | SCN5A | c.3617T>C (p.Phe1206Ser) c.3620T>C (p.Phe1207Ser) c.3458T>C (p.Phe1153Ser) c.3491T>C (p.Phe1164Ser) | |
| 3 | g.38575343A>T | CA352138070 | SCN5A | c.3617T>A (p.Phe1206Tyr) c.3620T>A (p.Phe1207Tyr) c.3458T>A (p.Phe1153Tyr) c.3491T>A (p.Phe1164Tyr) | |
| 3 | g.38575344A>C | CA352138072 | SCN5A | c.3616T>G (p.Phe1206Val) c.3619T>G (p.Phe1207Val) c.3457T>G (p.Phe1153Val) c.3490T>G (p.Phe1164Val) | |
| 3 | g.38575344A>G | CA352138074 | SCN5A | c.3616T>C (p.Phe1206Leu) c.3619T>C (p.Phe1207Leu) c.3457T>C (p.Phe1153Leu) c.3490T>C (p.Phe1164Leu) | |
| 3 | g.38575344A>T | CA352138073 | SCN5A | c.3616T>A (p.Phe1206Ile) c.3619T>A (p.Phe1207Ile) c.3457T>A (p.Phe1153Ile) c.3490T>A (p.Phe1164Ile) | |
| 3 | g.38575344_38575345insTTCATGGGTCAGACTGGCCCATGGCTCACCAGGCCG | CA2665112174 | SCN5A | c.3615_3616insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA (p.Trp1205_Phe1206insArgProGlyGluProTrpAlaSerLeuThrHisGlu) c.3618_3619insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA (p.Trp1206_Phe1207insArgProGlyGluProTrpAlaSerLeuThrHisGlu) c.3456_3457insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA (p.Trp1152_Phe1153insArgProGlyGluProTrpAlaSerLeuThrHisGlu) c.3489_3490insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA (p.Trp1163_Phe1164insArgProGlyGluProTrpAlaSerLeuThrHisGlu) | gnomAD v4 |
| 3 | g.38575345C>A | CA017325 | SCN5A | c.3615G>T (p.Trp1205Cys) c.3618G>T (p.Trp1206Cys) c.3456G>T (p.Trp1152Cys) c.3489G>T (p.Trp1163Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38575345C= | CA1358572540 | SCN5A | c.3615G= (p.Trp1205=) c.3618G= (p.Trp1206=) c.3456G= (p.Trp1152=) c.3489G= (p.Trp1163=) | |
| 3 | g.38575345C>G | CA352138075 | SCN5A | c.3615G>C (p.Trp1205Cys) c.3618G>C (p.Trp1206Cys) c.3456G>C (p.Trp1152Cys) c.3489G>C (p.Trp1163Cys) | |
| 3 | g.38575345C>T | CA352138076 | SCN5A | c.3615G>A (p.Trp1205Ter) c.3618G>A (p.Trp1206Ter) c.3456G>A (p.Trp1152Ter) c.3489G>A (p.Trp1163Ter) | dbSNP |
| 3 | g.38575346C>A | CA352138077 | SCN5A | c.3614G>T (p.Trp1205Leu) c.3617G>T (p.Trp1206Leu) c.3455G>T (p.Trp1152Leu) c.3488G>T (p.Trp1163Leu) | |
| 3 | g.38575346C>G | CA352138078 | SCN5A | c.3614G>C (p.Trp1205Ser) c.3617G>C (p.Trp1206Ser) c.3455G>C (p.Trp1152Ser) c.3488G>C (p.Trp1163Ser) | |
| 3 | g.38575346C>T | CA352138079 | SCN5A | c.3614G>A (p.Trp1205Ter) c.3617G>A (p.Trp1206Ter) c.3455G>A (p.Trp1152Ter) c.3488G>A (p.Trp1163Ter) | COSMIC COSMIC COSMIC |
| 3 | g.38575347A= | CA1358572541 | SCN5A | c.3613T= (p.Trp1205=) c.3616T= (p.Trp1206=) c.3454T= (p.Trp1152=) c.3487T= (p.Trp1163=) | |
| 3 | g.38575347A>C | CA352138082 | SCN5A | c.3613T>G (p.Trp1205Gly) c.3616T>G (p.Trp1206Gly) c.3454T>G (p.Trp1152Gly) c.3487T>G (p.Trp1163Gly) | |
| 3 | g.38575347A>G | CA352138080 | SCN5A | c.3613T>C (p.Trp1205Arg) c.3616T>C (p.Trp1206Arg) c.3454T>C (p.Trp1152Arg) c.3487T>C (p.Trp1163Arg) | gnomAD v4 |
| 3 | g.38575347A>T | CA352138081 | SCN5A | c.3613T>A (p.Trp1205Arg) c.3616T>A (p.Trp1206Arg) c.3454T>A (p.Trp1152Arg) c.3487T>A (p.Trp1163Arg) | dbSNP |
| 3 | g.38575347_38575386delinsAGCTGTGCTCCACGATGTGGTAGCAGGTCTTGCGCAACCG | CA1358572542 | SCN5A | c.3574_3613delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1192=) c.3577_3616delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1193=) c.3415_3454delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1139=) c.3448_3487delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1150=) | |
| 3 | g.38575348G>A | CA433134027 | SCN5A | c.3612C>T (p.Ser1204=) c.3615C>T (p.Ser1205=) c.3453C>T (p.Ser1151=) c.3486C>T (p.Ser1162=) | gnomAD v4 |
| 3 | g.38575348G>C | CA352138083 | SCN5A | c.3612C>G (p.Ser1204Arg) c.3615C>G (p.Ser1205Arg) c.3453C>G (p.Ser1151Arg) c.3486C>G (p.Ser1162Arg) | |
| 3 | g.38575348G>T | CA352138084 | SCN5A | c.3612C>A (p.Ser1204Arg) c.3615C>A (p.Ser1205Arg) c.3453C>A (p.Ser1151Arg) c.3486C>A (p.Ser1162Arg) | |
| 3 | g.38575348_38575386del | CA1047000738 | SCN5A | c.3574_3612del (p.Arg1192_Ser1204del) c.3577_3615del (p.Arg1193_Ser1205del) c.3415_3453del (p.Arg1139_Ser1151del) c.3448_3486del (p.Arg1150_Ser1162del) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38575349C>A | CA352138085 | SCN5A | c.3611G>T (p.Ser1204Ile) c.3614G>T (p.Ser1205Ile) c.3452G>T (p.Ser1151Ile) c.3485G>T (p.Ser1162Ile) | |
| 3 | g.38575349C>G | CA352138086 | SCN5A | c.3611G>C (p.Ser1204Thr) c.3614G>C (p.Ser1205Thr) c.3452G>C (p.Ser1151Thr) c.3485G>C (p.Ser1162Thr) | |
| 3 | g.38575349C>T | CA352138087 | SCN5A | c.3611G>A (p.Ser1204Asn) c.3614G>A (p.Ser1205Asn) c.3452G>A (p.Ser1151Asn) c.3485G>A (p.Ser1162Asn) | |
| 3 | g.38575350T>A | CA352138088 | SCN5A | c.3610A>T (p.Ser1204Cys) c.3613A>T (p.Ser1205Cys) c.3451A>T (p.Ser1151Cys) c.3484A>T (p.Ser1162Cys) | |
| 3 | g.38575350T>C | CA352138090 | SCN5A | c.3610A>G (p.Ser1204Gly) c.3613A>G (p.Ser1205Gly) c.3451A>G (p.Ser1151Gly) c.3484A>G (p.Ser1162Gly) | gnomAD v4 |
| 3 | g.38575350T>G | CA352138089 | SCN5A | c.3610A>C (p.Ser1204Arg) c.3613A>C (p.Ser1205Arg) c.3451A>C (p.Ser1151Arg) c.3484A>C (p.Ser1162Arg) | |
| 3 | g.38575351G>A | CA062087 | SCN5A | c.3609C>T (p.His1203=) c.3612C>T (p.His1204=) c.3450C>T (p.His1150=) c.3483C>T (p.His1161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38575351G>C | CA352138091 | SCN5A | c.3609C>G (p.His1203Gln) c.3612C>G (p.His1204Gln) c.3450C>G (p.His1150Gln) c.3483C>G (p.His1161Gln) | gnomAD v4 |
| 3 | g.38575351G= | CA1358572543 | SCN5A | c.3609C= (p.His1203=) c.3612C= (p.His1204=) c.3450C= (p.His1150=) c.3483C= (p.His1161=) | |
| 3 | g.38575351G>T | CA352138092 | SCN5A | c.3609C>A (p.His1203Gln) c.3612C>A (p.His1204Gln) c.3450C>A (p.His1150Gln) c.3483C>A (p.His1161Gln) | ClinVar dbSNP |
| 3 | g.38575352T>A | CA352138093 | SCN5A | c.3608A>T (p.His1203Leu) c.3611A>T (p.His1204Leu) c.3449A>T (p.His1150Leu) c.3482A>T (p.His1161Leu) | |
| 3 | g.38575352T>C | CA352138094 | SCN5A | c.3608A>G (p.His1203Arg) c.3611A>G (p.His1204Arg) c.3449A>G (p.His1150Arg) c.3482A>G (p.His1161Arg) | |
| 3 | g.38575352T>G | CA352138095 | SCN5A | c.3608A>C (p.His1203Pro) c.3611A>C (p.His1204Pro) c.3449A>C (p.His1150Pro) c.3482A>C (p.His1161Pro) | |
| 3 | g.38575353G>A | CA352138096 | SCN5A | c.3607C>T (p.His1203Tyr) c.3610C>T (p.His1204Tyr) c.3448C>T (p.His1150Tyr) c.3481C>T (p.His1161Tyr) | |
| 3 | g.38575353G>C | CA352138097 | SCN5A | c.3607C>G (p.His1203Asp) c.3610C>G (p.His1204Asp) c.3448C>G (p.His1150Asp) c.3481C>G (p.His1161Asp) | |
| 3 | g.38575353G>T | CA352138098 | SCN5A | c.3607C>A (p.His1203Asn) c.3610C>A (p.His1204Asn) c.3448C>A (p.His1150Asn) c.3481C>A (p.His1161Asn) |