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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2768884C>A | CA379138965 | KCNQ1 | c.1198C>A (p.Arg400Ser) c.1015C>A (p.Arg339Ser) c.1555C>A (p.Arg519Ser) c.1174C>A (p.Arg392Ser) c.661C>A (p.Arg221Ser) | |
| 11 | g.2768884C= | CA1948310035 | KCNQ1 | c.1198C= (p.Arg400=) c.1015C= (p.Arg339=) c.1555C= (p.Arg519=) c.1174C= (p.Arg392=) c.661C= (p.Arg221=) | |
| 11 | g.2768884C>G | CA379138966 | KCNQ1 | c.1198C>G (p.Arg400Gly) c.1015C>G (p.Arg339Gly) c.1555C>G (p.Arg519Gly) c.1174C>G (p.Arg392Gly) c.661C>G (p.Arg221Gly) | |
| 11 | g.2768884C>T | CA005917 | KCNQ1 | c.1198C>T (p.Arg400Cys) c.1015C>T (p.Arg339Cys) c.1555C>T (p.Arg519Cys) c.1174C>T (p.Arg392Cys) c.661C>T (p.Arg221Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.2768885G>A | CA005923 | KCNQ1 | c.1199G>A (p.Arg400His) c.1016G>A (p.Arg339His) c.1556G>A (p.Arg519His) c.1175G>A (p.Arg392His) c.662G>A (p.Arg221His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2768885G>C | CA379138968 | KCNQ1 | c.1199G>C (p.Arg400Pro) c.1016G>C (p.Arg339Pro) c.1556G>C (p.Arg519Pro) c.1175G>C (p.Arg392Pro) c.662G>C (p.Arg221Pro) | |
| 11 | g.2768885G= | CA1948310041 | KCNQ1 | c.1199G= (p.Arg400=) c.1016G= (p.Arg339=) c.1556G= (p.Arg519=) c.1175G= (p.Arg392=) c.662G= (p.Arg221=) | |
| 11 | g.2768885G>T | CA379138967 | KCNQ1 | c.1199G>T (p.Arg400Leu) c.1016G>T (p.Arg339Leu) c.1556G>T (p.Arg519Leu) c.1175G>T (p.Arg392Leu) c.662G>T (p.Arg221Leu) | |
| 11 | g.2768888_2768891del | CA2697548364 | KCNQ1 | c.1202_1205del (p.Met401SerfsTer?) c.1019_1022del (p.Met340SerfsTer?) c.1559_1562del (p.Met520SerfsTer?) c.1178_1181del (p.Met393SerfsTer?) c.665_668del (p.Met222SerfsTer?) | ClinVar |
| 11 | g.2768886C>A | CA472459457 | KCNQ1 | c.1200C>A (p.Arg400=) c.1017C>A (p.Arg339=) c.1557C>A (p.Arg519=) c.1176C>A (p.Arg392=) c.663C>A (p.Arg221=) | |
| 11 | g.2768886C>G | CA472459459 | KCNQ1 | c.1200C>G (p.Arg400=) c.1017C>G (p.Arg339=) c.1557C>G (p.Arg519=) c.1176C>G (p.Arg392=) c.663C>G (p.Arg221=) | |
| 11 | g.2768886C>T | CA472459460 | KCNQ1 | c.1200C>T (p.Arg400=) c.1017C>T (p.Arg339=) c.1557C>T (p.Arg519=) c.1176C>T (p.Arg392=) c.663C>T (p.Arg221=) | ClinVar gnomAD v4 |
| 11 | g.2768887A>C | CA379138969 | KCNQ1 | c.1201A>C (p.Met401Leu) c.1018A>C (p.Met340Leu) c.1558A>C (p.Met520Leu) c.1177A>C (p.Met393Leu) c.664A>C (p.Met222Leu) | |
| 11 | g.2768887A>G | CA379138971 | KCNQ1 | c.1201A>G (p.Met401Val) c.1018A>G (p.Met340Val) c.1558A>G (p.Met520Val) c.1177A>G (p.Met393Val) c.664A>G (p.Met222Val) | |
| 11 | g.2768887A>T | CA379138970 | KCNQ1 | c.1201A>T (p.Met401Leu) c.1018A>T (p.Met340Leu) c.1558A>T (p.Met520Leu) c.1177A>T (p.Met393Leu) c.664A>T (p.Met222Leu) | |
| 11 | g.2768888T>A | CA379138972 | KCNQ1 | c.1202T>A (p.Met401Lys) c.1019T>A (p.Met340Lys) c.1559T>A (p.Met520Lys) c.1178T>A (p.Met393Lys) c.665T>A (p.Met222Lys) | ClinVar |
| 11 | g.2768888T>C | CA379138973 | KCNQ1 | c.1202T>C (p.Met401Thr) c.1019T>C (p.Met340Thr) c.1559T>C (p.Met520Thr) c.1178T>C (p.Met393Thr) c.665T>C (p.Met222Thr) | ClinVar dbSNP |
| 11 | g.2768888T>G | CA005930 | KCNQ1 | c.1202T>G (p.Met401Arg) c.1019T>G (p.Met340Arg) c.1559T>G (p.Met520Arg) c.1178T>G (p.Met393Arg) c.665T>G (p.Met222Arg) | ClinVar dbSNP |
| 11 | g.2768888T= | CA1948310045 | KCNQ1 | c.1202T= (p.Met401=) c.1019T= (p.Met340=) c.1559T= (p.Met520=) c.1178T= (p.Met393=) c.665T= (p.Met222=) | |
| 11 | g.2768889G>A | CA379138974 | KCNQ1 | c.1203G>A (p.Met401Ile) c.1020G>A (p.Met340Ile) c.1560G>A (p.Met520Ile) c.1179G>A (p.Met393Ile) c.666G>A (p.Met222Ile) | ClinVar dbSNP |
| 11 | g.2768889G>C | CA379138975 | KCNQ1 | c.1203G>C (p.Met401Ile) c.1020G>C (p.Met340Ile) c.1560G>C (p.Met520Ile) c.1179G>C (p.Met393Ile) c.666G>C (p.Met222Ile) | |
| 11 | g.2768889G= | CA1948310049 | KCNQ1 | c.1203G= (p.Met401=) c.1020G= (p.Met340=) c.1560G= (p.Met520=) c.1179G= (p.Met393=) c.666G= (p.Met222=) | |
| 11 | g.2768889G>T | CA379138976 | KCNQ1 | c.1203G>T (p.Met401Ile) c.1020G>T (p.Met340Ile) c.1560G>T (p.Met520Ile) c.1179G>T (p.Met393Ile) c.666G>T (p.Met222Ile) | |
| 11 | g.2768890C>A | CA379138977 | KCNQ1 | c.1204C>A (p.Gln402Lys) c.1021C>A (p.Gln341Lys) c.1561C>A (p.Gln521Lys) c.1180C>A (p.Gln394Lys) c.667C>A (p.Gln223Lys) | |
| 11 | g.2768890C>G | CA379138978 | KCNQ1 | c.1204C>G (p.Gln402Glu) c.1021C>G (p.Gln341Glu) c.1561C>G (p.Gln521Glu) c.1180C>G (p.Gln394Glu) c.667C>G (p.Gln223Glu) | |
| 11 | g.2768890C>T | CA379138979 | KCNQ1 | c.1204C>T (p.Gln402Ter) c.1021C>T (p.Gln341Ter) c.1561C>T (p.Gln521Ter) c.1180C>T (p.Gln394Ter) c.667C>T (p.Gln223Ter) | |
| 11 | g.2768891A= | CA1948310053 | KCNQ1 | c.1205A= (p.Gln402=) c.1022A= (p.Gln341=) c.1562A= (p.Gln521=) c.1181A= (p.Gln394=) c.668A= (p.Gln223=) | |
| 11 | g.2768891A>C | CA379138980 | KCNQ1 | c.1205A>C (p.Gln402Pro) c.1022A>C (p.Gln341Pro) c.1562A>C (p.Gln521Pro) c.1181A>C (p.Gln394Pro) c.668A>C (p.Gln223Pro) | |
| 11 | g.2768891A>G | CA379138981 | KCNQ1 | c.1205A>G (p.Gln402Arg) c.1022A>G (p.Gln341Arg) c.1562A>G (p.Gln521Arg) c.1181A>G (p.Gln394Arg) c.668A>G (p.Gln223Arg) | dbSNP |
| 11 | g.2768891A>T | CA379138982 | KCNQ1 | c.1205A>T (p.Gln402Leu) c.1022A>T (p.Gln341Leu) c.1562A>T (p.Gln521Leu) c.1181A>T (p.Gln394Leu) c.668A>T (p.Gln223Leu) | |
| 11 | g.2768892G>A | CA472459466 | KCNQ1 | c.1206G>A (p.Gln402=) c.1023G>A (p.Gln341=) c.1563G>A (p.Gln521=) c.1182G>A (p.Gln394=) c.669G>A (p.Gln223=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2768892G>C | CA379138984 | KCNQ1 | c.1206G>C (p.Gln402His) c.1023G>C (p.Gln341His) c.1563G>C (p.Gln521His) c.1182G>C (p.Gln394His) c.669G>C (p.Gln223His) | |
| 11 | g.2768892G= | CA1948310055 | KCNQ1 | c.1206G= (p.Gln402=) c.1023G= (p.Gln341=) c.1563G= (p.Gln521=) c.1182G= (p.Gln394=) c.669G= (p.Gln223=) | |
| 11 | g.2768892G>T | CA379138983 | KCNQ1 | c.1206G>T (p.Gln402His) c.1023G>T (p.Gln341His) c.1563G>T (p.Gln521His) c.1182G>T (p.Gln394His) c.669G>T (p.Gln223His) | |
| 11 | g.2768893T>A | CA379138985 | KCNQ1 | c.1207T>A (p.Tyr403Asn) c.1024T>A (p.Tyr342Asn) c.1564T>A (p.Tyr522Asn) c.1183T>A (p.Tyr395Asn) c.670T>A (p.Tyr224Asn) | |
| 11 | g.2768893T>C | CA379138986 | KCNQ1 | c.1207T>C (p.Tyr403His) c.1024T>C (p.Tyr342His) c.1564T>C (p.Tyr522His) c.1183T>C (p.Tyr395His) c.670T>C (p.Tyr224His) | |
| 11 | g.2768893T>G | CA379138987 | KCNQ1 | c.1207T>G (p.Tyr403Asp) c.1024T>G (p.Tyr342Asp) c.1564T>G (p.Tyr522Asp) c.1183T>G (p.Tyr395Asp) c.670T>G (p.Tyr224Asp) | |
| 11 | g.2768894A= | CA1948310061 | KCNQ1 | c.1208A= (p.Tyr403=) c.1025A= (p.Tyr342=) c.1565A= (p.Tyr522=) c.1184A= (p.Tyr395=) c.671A= (p.Tyr224=) | |
| 11 | g.2768894A>C | CA005936 | KCNQ1 | c.1208A>C (p.Tyr403Ser) c.1025A>C (p.Tyr342Ser) c.1565A>C (p.Tyr522Ser) c.1184A>C (p.Tyr395Ser) c.671A>C (p.Tyr224Ser) | ClinVar dbSNP |
| 11 | g.2768894A>G | CA379138988 | KCNQ1 | c.1208A>G (p.Tyr403Cys) c.1025A>G (p.Tyr342Cys) c.1565A>G (p.Tyr522Cys) c.1184A>G (p.Tyr395Cys) c.671A>G (p.Tyr224Cys) | |
| 11 | g.2768894A>T | CA379138989 | KCNQ1 | c.1208A>T (p.Tyr403Phe) c.1025A>T (p.Tyr342Phe) c.1565A>T (p.Tyr522Phe) c.1184A>T (p.Tyr395Phe) c.671A>T (p.Tyr224Phe) | |
| 11 | g.2768895C>A | CA030928 | KCNQ1 | c.1209C>A (p.Tyr403Ter) c.1026C>A (p.Tyr342Ter) c.1566C>A (p.Tyr522Ter) c.1185C>A (p.Tyr395Ter) c.672C>A (p.Tyr224Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2768895C= | CA1948310063 | KCNQ1 | c.1209C= (p.Tyr403=) c.1026C= (p.Tyr342=) c.1566C= (p.Tyr522=) c.1185C= (p.Tyr395=) c.672C= (p.Tyr224=) | |
| 11 | g.2768895C>G | CA379138990 | KCNQ1 | c.1209C>G (p.Tyr403Ter) c.1026C>G (p.Tyr342Ter) c.1566C>G (p.Tyr522Ter) c.1185C>G (p.Tyr395Ter) c.672C>G (p.Tyr224Ter) | |
| 11 | g.2768895C>T | CA472459468 | KCNQ1 | c.1209C>T (p.Tyr403=) c.1026C>T (p.Tyr342=) c.1566C>T (p.Tyr522=) c.1185C>T (p.Tyr395=) c.672C>T (p.Tyr224=) | |
| 11 | g.2768896T>A | CA379138991 | KCNQ1 | c.1210T>A (p.Phe404Ile) c.1027T>A (p.Phe343Ile) c.1567T>A (p.Phe523Ile) c.1186T>A (p.Phe396Ile) c.673T>A (p.Phe225Ile) | |
| 11 | g.2768896T>C | CA379138992 | KCNQ1 | c.1210T>C (p.Phe404Leu) c.1027T>C (p.Phe343Leu) c.1567T>C (p.Phe523Leu) c.1186T>C (p.Phe396Leu) c.673T>C (p.Phe225Leu) | |
| 11 | g.2768896T>G | CA379138993 | KCNQ1 | c.1210T>G (p.Phe404Val) c.1027T>G (p.Phe343Val) c.1567T>G (p.Phe523Val) c.1186T>G (p.Phe396Val) c.673T>G (p.Phe225Val) | |
| 11 | g.2768897T>A | CA379138996 | KCNQ1 | c.1211T>A (p.Phe404Tyr) c.1028T>A (p.Phe343Tyr) c.1568T>A (p.Phe523Tyr) c.1187T>A (p.Phe396Tyr) c.674T>A (p.Phe225Tyr) | |
| 11 | g.2768897T>C | CA379138995 | KCNQ1 | c.1211T>C (p.Phe404Ser) c.1028T>C (p.Phe343Ser) c.1568T>C (p.Phe523Ser) c.1187T>C (p.Phe396Ser) c.674T>C (p.Phe225Ser) |