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 |
|---|---|---|---|---|---|
| 11 | g.2776984A= | CA1948314550 | KCNQ1 | c.1329-2A= (n.1329-2A=) c.1146-2A= (n.1146-2A=) c.1686-2A= (n.1686-2A=) c.1305-2A= (n.1305-2A=) c.792-2A= (n.792-2A=) | |
| 11 | g.2776984A>C | CA379139260 | KCNQ1 | c.1329-2A>C (n.1329-2A>C) c.1146-2A>C (n.1146-2A>C) c.1686-2A>C (n.1686-2A>C) c.1305-2A>C (n.1305-2A>C) c.792-2A>C (n.792-2A>C) | gnomAD v4 |
| 11 | g.2776984A>G | CA10575754 | KCNQ1 | c.1329-2A>G (n.1329-2A>G) c.1146-2A>G (n.1146-2A>G) c.1686-2A>G (n.1686-2A>G) c.1305-2A>G (n.1305-2A>G) c.792-2A>G (n.792-2A>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2776984A>T | CA379139259 | KCNQ1 | c.1329-2A>T (n.1329-2A>T) c.1146-2A>T (n.1146-2A>T) c.1686-2A>T (n.1686-2A>T) c.1305-2A>T (n.1305-2A>T) c.792-2A>T (n.792-2A>T) | |
| 11 | g.2776984_2776985delinsAG | CA1948314549 | KCNQ1 | c.1329-2_1329-1delinsAG (n.1329-2_1329-1delinsAG) c.1146-2_1146-1delinsAG (n.1146-2_1146-1delinsAG) c.1686-2_1686-1delinsAG (n.1686-2_1686-1delinsAG) c.1305-2_1305-1delinsAG (n.1305-2_1305-1delinsAG) c.792-2_792-1delinsAG (n.792-2_792-1delinsAG) | |
| 11 | g.2776985G>A | CA006183 | KCNQ1 | c.1329-1G>A (n.1329-1G>A) c.1146-1G>A (n.1146-1G>A) c.1686-1G>A (n.1686-1G>A) c.1305-1G>A (n.1305-1G>A) c.792-1G>A (n.792-1G>A) | ClinVar dbSNP |
| 11 | g.2776985G>C | CA379139261 | KCNQ1 | c.1329-1G>C (n.1329-1G>C) c.1146-1G>C (n.1146-1G>C) c.1686-1G>C (n.1686-1G>C) c.1305-1G>C (n.1305-1G>C) c.792-1G>C (n.792-1G>C) | |
| 11 | g.2776985G= | CA1948314551 | KCNQ1 | c.1329-1G= (n.1329-1G=) c.1146-1G= (n.1146-1G=) c.1686-1G= (n.1686-1G=) c.1305-1G= (n.1305-1G=) c.792-1G= (n.792-1G=) | |
| 11 | g.2776985G>T | CA379139262 | KCNQ1 | c.1329-1G>T (n.1329-1G>T) c.1146-1G>T (n.1146-1G>T) c.1686-1G>T (n.1686-1G>T) c.1305-1G>T (n.1305-1G>T) c.792-1G>T (n.792-1G>T) | |
| 11 | g.2776986del | CA006189 | KCNQ1 | c.1329del c.1146del c.1686del c.1305del c.792del | ClinVar dbSNP gnomAD v4 |
| 11 | g.2776986G>A | CA472465166 | KCNQ1 | c.1329G>A (p.Arg443=) c.1146G>A (p.Arg382=) c.1686G>A (p.Arg562=) c.1305G>A (p.Arg435=) c.792G>A (p.Arg264=) | |
| 11 | g.2776986G>C | CA379139263 | KCNQ1 | c.1329G>C (p.Arg443Ser) c.1146G>C (p.Arg382Ser) c.1686G>C (p.Arg562Ser) c.1305G>C (p.Arg435Ser) c.792G>C (p.Arg264Ser) | ClinVar |
| 11 | g.2776986G= | CA1948314552 | KCNQ1 | c.1329G= (p.Arg443=) c.1146G= (p.Arg382=) c.1686G= (p.Arg562=) c.1305G= (p.Arg435=) c.792G= (p.Arg264=) | |
| 11 | g.2776986G>T | CA006195 | KCNQ1 | c.1329G>T (p.Arg443Ser) c.1146G>T (p.Arg382Ser) c.1686G>T (p.Arg562Ser) c.1305G>T (p.Arg435Ser) c.792G>T (p.Arg264Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2776987C>A | CA379139265 | KCNQ1 | c.1330C>A (p.Leu444Met) c.1147C>A (p.Leu383Met) c.1687C>A (p.Leu563Met) c.1306C>A (p.Leu436Met) c.793C>A (p.Leu265Met) | |
| 11 | g.2776987C>G | CA379139264 | KCNQ1 | c.1330C>G (p.Leu444Val) c.1147C>G (p.Leu383Val) c.1687C>G (p.Leu563Val) c.1306C>G (p.Leu436Val) c.793C>G (p.Leu265Val) | |
| 11 | g.2776987C>T | CA472465170 | KCNQ1 | c.1330C>T (p.Leu444=) c.1147C>T (p.Leu383=) c.1687C>T (p.Leu563=) c.1306C>T (p.Leu436=) c.793C>T (p.Leu265=) | |
| 11 | g.2776988T>A | CA379139266 | KCNQ1 | c.1331T>A (p.Leu444Gln) c.1148T>A (p.Leu383Gln) c.1688T>A (p.Leu563Gln) c.1307T>A (p.Leu436Gln) c.794T>A (p.Leu265Gln) | |
| 11 | g.2776988T>C | CA379139267 | KCNQ1 | c.1331T>C (p.Leu444Pro) c.1148T>C (p.Leu383Pro) c.1688T>C (p.Leu563Pro) c.1307T>C (p.Leu436Pro) c.794T>C (p.Leu265Pro) | |
| 11 | g.2776988T>G | CA379139268 | KCNQ1 | c.1331T>G (p.Leu444Arg) c.1148T>G (p.Leu383Arg) c.1688T>G (p.Leu563Arg) c.1307T>G (p.Leu436Arg) c.794T>G (p.Leu265Arg) | |
| 11 | g.2776989G>A | CA472465187 | KCNQ1 | c.1332G>A (p.Leu444=) c.1149G>A (p.Leu383=) c.1689G>A (p.Leu563=) c.1308G>A (p.Leu436=) c.795G>A (p.Leu265=) | ClinVar gnomAD v4 COSMIC COSMIC |
| 11 | g.2776989G>C | CA472465188 | KCNQ1 | c.1332G>C (p.Leu444=) c.1149G>C (p.Leu383=) c.1689G>C (p.Leu563=) c.1308G>C (p.Leu436=) c.795G>C (p.Leu265=) | |
| 11 | g.2776989G>T | CA472465189 | KCNQ1 | c.1332G>T (p.Leu444=) c.1149G>T (p.Leu383=) c.1689G>T (p.Leu563=) c.1308G>T (p.Leu436=) c.795G>T (p.Leu265=) | |
| 11 | g.2776990G>A | CA032144 | KCNQ1 | c.1333G>A (p.Asp445Asn) c.1150G>A (p.Asp384Asn) c.1690G>A (p.Asp564Asn) c.1309G>A (p.Asp437Asn) c.796G>A (p.Asp266Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2776990G>C | CA379139269 | KCNQ1 | c.1333G>C (p.Asp445His) c.1150G>C (p.Asp384His) c.1690G>C (p.Asp564His) c.1309G>C (p.Asp437His) c.796G>C (p.Asp266His) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2776990G= | CA1948314553 | KCNQ1 | c.1333G= (p.Asp445=) c.1150G= (p.Asp384=) c.1690G= (p.Asp564=) c.1309G= (p.Asp437=) c.796G= (p.Asp266=) | |
| 11 | g.2776990G>T | CA379139270 | KCNQ1 | c.1333G>T (p.Asp445Tyr) c.1150G>T (p.Asp384Tyr) c.1690G>T (p.Asp564Tyr) c.1309G>T (p.Asp437Tyr) c.796G>T (p.Asp266Tyr) | |
| 11 | g.2776991A= | CA1948314554 | KCNQ1 | c.1334A= (p.Asp445=) c.1151A= (p.Asp384=) c.1691A= (p.Asp564=) c.1310A= (p.Asp437=) c.797A= (p.Asp266=) | |
| 11 | g.2776991A>C | CA379139271 | KCNQ1 | c.1334A>C (p.Asp445Ala) c.1151A>C (p.Asp384Ala) c.1691A>C (p.Asp564Ala) c.1310A>C (p.Asp437Ala) c.797A>C (p.Asp266Ala) | |
| 11 | g.2776991A>G | CA379139273 | KCNQ1 | c.1334A>G (p.Asp445Gly) c.1151A>G (p.Asp384Gly) c.1691A>G (p.Asp564Gly) c.1310A>G (p.Asp437Gly) c.797A>G (p.Asp266Gly) | ClinVar dbSNP |
| 11 | g.2776991A>T | CA379139272 | KCNQ1 | c.1334A>T (p.Asp445Val) c.1151A>T (p.Asp384Val) c.1691A>T (p.Asp564Val) c.1310A>T (p.Asp437Val) c.797A>T (p.Asp266Val) | |
| 11 | g.2776992C>A | CA379139274 | KCNQ1 | c.1335C>A (p.Asp445Glu) c.1152C>A (p.Asp384Glu) c.1692C>A (p.Asp564Glu) c.1311C>A (p.Asp437Glu) c.798C>A (p.Asp266Glu) | |
| 11 | g.2776992C>G | CA379139275 | KCNQ1 | c.1335C>G (p.Asp445Glu) c.1152C>G (p.Asp384Glu) c.1692C>G (p.Asp564Glu) c.1311C>G (p.Asp437Glu) c.798C>G (p.Asp266Glu) | |
| 11 | g.2776992C>T | CA472465204 | KCNQ1 | c.1335C>T (p.Asp445=) c.1152C>T (p.Asp384=) c.1692C>T (p.Asp564=) c.1311C>T (p.Asp437=) c.798C>T (p.Asp266=) | |
| 11 | g.2776993C>A | CA379139276 | KCNQ1 | c.1336C>A (p.Gln446Lys) c.1153C>A (p.Gln385Lys) c.1693C>A (p.Gln565Lys) c.1312C>A (p.Gln438Lys) c.799C>A (p.Gln267Lys) | |
| 11 | g.2776993C>G | CA379139277 | KCNQ1 | c.1336C>G (p.Gln446Glu) c.1153C>G (p.Gln385Glu) c.1693C>G (p.Gln565Glu) c.1312C>G (p.Gln438Glu) c.799C>G (p.Gln267Glu) | |
| 11 | g.2776993C>T | CA379139278 | KCNQ1 | c.1336C>T (p.Gln446Ter) c.1153C>T (p.Gln385Ter) c.1693C>T (p.Gln565Ter) c.1312C>T (p.Gln438Ter) c.799C>T (p.Gln267Ter) | |
| 11 | g.2776994A= | CA1948314555 | KCNQ1 | c.1337A= (p.Gln446=) c.1154A= (p.Gln385=) c.1694A= (p.Gln565=) c.1313A= (p.Gln438=) c.800A= (p.Gln267=) | |
| 11 | g.2776994A>C | CA379139279 | KCNQ1 | c.1337A>C (p.Gln446Pro) c.1154A>C (p.Gln385Pro) c.1694A>C (p.Gln565Pro) c.1313A>C (p.Gln438Pro) c.800A>C (p.Gln267Pro) | ClinVar dbSNP |
| 11 | g.2776994A>G | CA379139280 | KCNQ1 | c.1337A>G (p.Gln446Arg) c.1154A>G (p.Gln385Arg) c.1694A>G (p.Gln565Arg) c.1313A>G (p.Gln438Arg) c.800A>G (p.Gln267Arg) | |
| 11 | g.2776994A>T | CA379139281 | KCNQ1 | c.1337A>T (p.Gln446Leu) c.1154A>T (p.Gln385Leu) c.1694A>T (p.Gln565Leu) c.1313A>T (p.Gln438Leu) c.800A>T (p.Gln267Leu) | |
| 11 | g.2776995G>A | CA472465216 | KCNQ1 | c.1338G>A (p.Gln446=) c.1155G>A (p.Gln385=) c.1695G>A (p.Gln565=) c.1314G>A (p.Gln438=) c.801G>A (p.Gln267=) | |
| 11 | g.2776995G>C | CA379139282 | KCNQ1 | c.1338G>C (p.Gln446His) c.1155G>C (p.Gln385His) c.1695G>C (p.Gln565His) c.1314G>C (p.Gln438His) c.801G>C (p.Gln267His) | |
| 11 | g.2776995G>T | CA379139283 | KCNQ1 | c.1338G>T (p.Gln446His) c.1155G>T (p.Gln385His) c.1695G>T (p.Gln565His) c.1314G>T (p.Gln438His) c.801G>T (p.Gln267His) | |
| 11 | g.2776996T>A | CA379139285 | KCNQ1 | c.1339T>A (p.Ser447Thr) c.1156T>A (p.Ser386Thr) c.1696T>A (p.Ser566Thr) c.1315T>A (p.Ser439Thr) c.802T>A (p.Ser268Thr) | |
| 11 | g.2776996T>C | CA006200 | KCNQ1 | c.1339T>C (p.Ser447Pro) c.1156T>C (p.Ser386Pro) c.1696T>C (p.Ser566Pro) c.1315T>C (p.Ser439Pro) c.802T>C (p.Ser268Pro) | ClinVar dbSNP |
| 11 | g.2776996T>G | CA379139284 | KCNQ1 | c.1339T>G (p.Ser447Ala) c.1156T>G (p.Ser386Ala) c.1696T>G (p.Ser566Ala) c.1315T>G (p.Ser439Ala) c.802T>G (p.Ser268Ala) | |
| 11 | g.2776996T= | CA1948314556 | KCNQ1 | c.1339T= (p.Ser447=) c.1156T= (p.Ser386=) c.1696T= (p.Ser566=) c.1315T= (p.Ser439=) c.802T= (p.Ser268=) | |
| 11 | g.2776997C>A | CA006206 | KCNQ1 | c.1340C>A (p.Ser447Tyr) c.1157C>A (p.Ser386Tyr) c.1697C>A (p.Ser566Tyr) c.1316C>A (p.Ser439Tyr) c.803C>A (p.Ser268Tyr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2776997C= | CA1948314557 | KCNQ1 | c.1340C= (p.Ser447=) c.1157C= (p.Ser386=) c.1697C= (p.Ser566=) c.1316C= (p.Ser439=) c.803C= (p.Ser268=) |