| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2847862_2847882delinsCCCCAGAGAGGGCGGGGCCCA | CA1948349644 | KCNQ1,KCNQ1-AS1 | c.1533_1553delinsCCCCAGAGAGGGCGGGGCCCA (p.Pro511=) c.1890_1910delinsCCCCAGAGAGGGCGGGGCCCA (p.Pro630=) c.1509_1529delinsCCCCAGAGAGGGCGGGGCCCA (p.Pro503=) c.294_314delinsCCCCAGAGAGGGCGGGGCCCA (p.Pro98=) n.397_417delinsCCCCAGAGAGGGCGGGGCCCA n.778-7440_778-7420delinsTGGGCCCCGCCCTCTCTGGGG | |
| 11 | g.2847864_2847883del | CA006551 | KCNQ1,KCNQ1-AS1 | c.1535_1554del (p.Pro512HisfsTer14) c.1892_1911del (p.Pro631HisfsTer14) c.1511_1530del (p.Pro504HisfsTer14) c.296_315del (p.Pro99HisfsTer14) n.399_418del n.778-7440_778-7421del | ClinVar dbSNP |
| 11 | g.2847867_2847884del | CA2612011342 | KCNQ1,KCNQ1-AS1 | c.1538_1555del (p.Arg513_His518del) c.1895_1912del (p.Arg632_His637del) c.1514_1531del (p.Arg505_His510del) c.299_316del (p.Arg100_His105del) n.402_419del n.778-7440_778-7423del | gnomAD v4 |
| 11 | g.2847867G>A | CA379140376 | KCNQ1,KCNQ1-AS1 | c.1538G>A (p.Arg513Lys) c.1895G>A (p.Arg632Lys) c.1514G>A (p.Arg505Lys) c.299G>A (p.Arg100Lys) n.402G>A n.778-7425C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.2847867G>C | CA379140377 | KCNQ1,KCNQ1-AS1 | c.1538G>C (p.Arg513Thr) c.1895G>C (p.Arg632Thr) c.1514G>C (p.Arg505Thr) c.299G>C (p.Arg100Thr) n.402G>C n.778-7425C>G | gnomAD v4 COSMIC COSMIC |
| 11 | g.2847867G= | CA1948349649 | KCNQ1,KCNQ1-AS1 | c.1538G= (p.Arg513=) c.1895G= (p.Arg632=) c.1514G= (p.Arg505=) c.299G= (p.Arg100=) n.402G= n.778-7425C= | |
| 11 | g.2847867G>T | CA379140378 | KCNQ1,KCNQ1-AS1 | c.1538G>T (p.Arg513Ile) c.1895G>T (p.Arg632Ile) c.1514G>T (p.Arg505Ile) c.299G>T (p.Arg100Ile) n.402G>T n.778-7425C>A | gnomAD v4 |
| 11 | g.2847868A= | CA1948349650 | KCNQ1,KCNQ1-AS1 | c.1539A= (p.Arg513=) c.1896A= (p.Arg632=) c.1515A= (p.Arg505=) c.300A= (p.Arg100=) n.403A= n.778-7426T= | |
| 11 | g.2847868A>C | CA379140379 | KCNQ1,KCNQ1-AS1 | c.1539A>C (p.Arg513Ser) c.1896A>C (p.Arg632Ser) c.1515A>C (p.Arg505Ser) c.300A>C (p.Arg100Ser) n.403A>C n.778-7426T>G | gnomAD v4 |
| 11 | g.2847868A>G | CA472466588 | KCNQ1,KCNQ1-AS1 | c.1539A>G (p.Arg513=) c.1896A>G (p.Arg632=) c.1515A>G (p.Arg505=) c.300A>G (p.Arg100=) n.403A>G n.778-7426T>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2847868A>T | CA379140380 | KCNQ1,KCNQ1-AS1 | c.1539A>T (p.Arg513Ser) c.1896A>T (p.Arg632Ser) c.1515A>T (p.Arg505Ser) c.300A>T (p.Arg100Ser) n.403A>T n.778-7426T>A | |
| 11 | g.2847869G>A | CA379140381 | KCNQ1,KCNQ1-AS1 | c.1540G>A (p.Glu514Lys) c.1897G>A (p.Glu633Lys) c.1516G>A (p.Glu506Lys) c.301G>A (p.Glu101Lys) n.404G>A n.778-7427C>T | gnomAD v4 |
| 11 | g.2847869G>C | CA379140382 | KCNQ1,KCNQ1-AS1 | c.1540G>C (p.Glu514Gln) c.1897G>C (p.Glu633Gln) c.1516G>C (p.Glu506Gln) c.301G>C (p.Glu101Gln) n.404G>C n.778-7427C>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2847869G= | CA1948349651 | KCNQ1,KCNQ1-AS1 | c.1540G= (p.Glu514=) c.1897G= (p.Glu633=) c.1516G= (p.Glu506=) c.301G= (p.Glu101=) n.404G= n.778-7427C= | |
| 11 | g.2847869G>T | CA379140383 | KCNQ1,KCNQ1-AS1 | c.1540G>T (p.Glu514Ter) c.1897G>T (p.Glu633Ter) c.1516G>T (p.Glu506Ter) c.301G>T (p.Glu101Ter) n.404G>T n.778-7427C>A | gnomAD v4 |
| 11 | g.2847870A>C | CA379140386 | KCNQ1,KCNQ1-AS1 | c.1541A>C (p.Glu514Ala) c.1898A>C (p.Glu633Ala) c.1517A>C (p.Glu506Ala) c.302A>C (p.Glu101Ala) n.405A>C n.778-7428T>G | |
| 11 | g.2847870A>G | CA379140384 | KCNQ1,KCNQ1-AS1 | c.1541A>G (p.Glu514Gly) c.1898A>G (p.Glu633Gly) c.1517A>G (p.Glu506Gly) c.302A>G (p.Glu101Gly) n.405A>G n.778-7428T>C | |
| 11 | g.2847870A>T | CA379140385 | KCNQ1,KCNQ1-AS1 | c.1541A>T (p.Glu514Val) c.1898A>T (p.Glu633Val) c.1517A>T (p.Glu506Val) c.302A>T (p.Glu101Val) n.405A>T n.778-7428T>A | |
| 11 | g.2847871G>A | CA472466601 | KCNQ1,KCNQ1-AS1 | c.1542G>A (p.Glu514=) c.1899G>A (p.Glu633=) c.1518G>A (p.Glu506=) c.303G>A (p.Glu101=) n.406G>A n.778-7429C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2847871G>C | CA379140387 | KCNQ1,KCNQ1-AS1 | c.1542G>C (p.Glu514Asp) c.1899G>C (p.Glu633Asp) c.1518G>C (p.Glu506Asp) c.303G>C (p.Glu101Asp) n.406G>C n.778-7429C>G | |
| 11 | g.2847871G= | CA1948349652 | KCNQ1,KCNQ1-AS1 | c.1542G= (p.Glu514=) c.1899G= (p.Glu633=) c.1518G= (p.Glu506=) c.303G= (p.Glu101=) n.406G= n.778-7429C= | |
| 11 | g.2847871G>T | CA379140388 | KCNQ1,KCNQ1-AS1 | c.1542G>T (p.Glu514Asp) c.1899G>T (p.Glu633Asp) c.1518G>T (p.Glu506Asp) c.303G>T (p.Glu101Asp) n.406G>T n.778-7429C>A | gnomAD v4 |
| 11 | g.2847872G>A | CA379140389 | KCNQ1,KCNQ1-AS1 | c.1543G>A (p.Gly515Ser) c.1900G>A (p.Gly634Ser) c.1519G>A (p.Gly507Ser) c.304G>A (p.Gly102Ser) n.407G>A n.778-7430C>T | gnomAD v4 |
| 11 | g.2847872G>C | CA379140390 | KCNQ1,KCNQ1-AS1 | c.1543G>C (p.Gly515Arg) c.1900G>C (p.Gly634Arg) c.1519G>C (p.Gly507Arg) c.304G>C (p.Gly102Arg) n.407G>C n.778-7430C>G | |
| 11 | g.2847872G>T | CA379140391 | KCNQ1,KCNQ1-AS1 | c.1543G>T (p.Gly515Cys) c.1900G>T (p.Gly634Cys) c.1519G>T (p.Gly507Cys) c.304G>T (p.Gly102Cys) n.407G>T n.778-7430C>A | gnomAD v4 |
| 11 | g.2847873G>A | CA379140392 | KCNQ1,KCNQ1-AS1 | c.1544G>A (p.Gly515Asp) c.1901G>A (p.Gly634Asp) c.1520G>A (p.Gly507Asp) c.305G>A (p.Gly102Asp) n.408G>A n.778-7431C>T | gnomAD v4 |
| 11 | g.2847873G>C | CA379140393 | KCNQ1,KCNQ1-AS1 | c.1544G>C (p.Gly515Ala) c.1901G>C (p.Gly634Ala) c.1520G>C (p.Gly507Ala) c.305G>C (p.Gly102Ala) n.408G>C n.778-7431C>G | |
| 11 | g.2847873G>T | CA379140394 | KCNQ1,KCNQ1-AS1 | c.1544G>T (p.Gly515Val) c.1901G>T (p.Gly634Val) c.1520G>T (p.Gly507Val) c.305G>T (p.Gly102Val) n.408G>T n.778-7431C>A | gnomAD v4 |
| 11 | g.2847874C>A | CA472466638 | KCNQ1,KCNQ1-AS1 | c.1545C>A (p.Gly515=) c.1902C>A (p.Gly634=) c.1521C>A (p.Gly507=) c.306C>A (p.Gly102=) n.409C>A n.778-7432G>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2847874C= | CA1948349653 | KCNQ1,KCNQ1-AS1 | c.1545C= (p.Gly515=) c.1902C= (p.Gly634=) c.1521C= (p.Gly507=) c.306C= (p.Gly102=) n.409C= n.778-7432G= | |
| 11 | g.2847874C>G | CA472466641 | KCNQ1,KCNQ1-AS1 | c.1545C>G (p.Gly515=) c.1902C>G (p.Gly634=) c.1521C>G (p.Gly507=) c.306C>G (p.Gly102=) n.409C>G n.778-7432G>C | |
| 11 | g.2847874C>T | CA033650 | KCNQ1,KCNQ1-AS1 | c.1545C>T (p.Gly515=) c.1902C>T (p.Gly634=) c.1521C>T (p.Gly507=) c.306C>T (p.Gly102=) n.409C>T n.778-7432G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.2847875G>A | CA006589 | KCNQ1,KCNQ1-AS1 | c.1546G>A (p.Gly516Arg) c.1903G>A (p.Gly635Arg) c.1522G>A (p.Gly508Arg) c.307G>A (p.Gly103Arg) n.410G>A n.778-7433C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.2847875G>C | CA379140396 | KCNQ1,KCNQ1-AS1 | c.1546G>C (p.Gly516Arg) c.1903G>C (p.Gly635Arg) c.1522G>C (p.Gly508Arg) c.307G>C (p.Gly103Arg) n.410G>C n.778-7433C>G | |
| 11 | g.2847875G= | CA1948349654 | KCNQ1,KCNQ1-AS1 | c.1546G= (p.Gly516=) c.1903G= (p.Gly635=) c.1522G= (p.Gly508=) c.307G= (p.Gly103=) n.410G= n.778-7433C= | |
| 11 | g.2847875G>T | CA379140395 | KCNQ1,KCNQ1-AS1 | c.1546G>T (p.Gly516Trp) c.1903G>T (p.Gly635Trp) c.1522G>T (p.Gly508Trp) c.307G>T (p.Gly103Trp) n.410G>T n.778-7433C>A | gnomAD v4 |
| 11 | g.2847878dup | CA658656103 | KCNQ1,KCNQ1-AS1 | c.1549dup (p.Ala517GlyfsTer16) c.1906dup (p.Ala636GlyfsTer16) c.1525dup (p.Ala509GlyfsTer16) c.310dup (p.Ala104GlyfsTer16) n.413dup n.778-7433dup | ClinVar dbSNP gnomAD v4 |
| 11 | g.2847878del | CA2612011410 | KCNQ1,KCNQ1-AS1 | c.1549del (p.Ala517ProfsTer30) c.1906del (p.Ala636ProfsTer30) c.1525del (p.Ala509ProfsTer30) c.310del (p.Ala104ProfsTer30) n.413del n.778-7433del | gnomAD v4 |
| 11 | g.2847876G>A | CA216345239 | KCNQ1,KCNQ1-AS1 | c.1547G>A (p.Gly516Glu) c.1904G>A (p.Gly635Glu) c.1523G>A (p.Gly508Glu) c.308G>A (p.Gly103Glu) n.411G>A n.778-7434C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2847876G>C | CA379140397 | KCNQ1,KCNQ1-AS1 | c.1547G>C (p.Gly516Ala) c.1904G>C (p.Gly635Ala) c.1523G>C (p.Gly508Ala) c.308G>C (p.Gly103Ala) n.411G>C n.778-7434C>G | |
| 11 | g.2847876G= | CA1948349655 | KCNQ1,KCNQ1-AS1 | c.1547G= (p.Gly516=) c.1904G= (p.Gly635=) c.1523G= (p.Gly508=) c.308G= (p.Gly103=) n.411G= n.778-7434C= | |
| 11 | g.2847876G>T | CA379140398 | KCNQ1,KCNQ1-AS1 | c.1547G>T (p.Gly516Val) c.1904G>T (p.Gly635Val) c.1523G>T (p.Gly508Val) c.308G>T (p.Gly103Val) n.411G>T n.778-7434C>A | gnomAD v4 |
| 11 | g.2847877G>A | CA216345249 | KCNQ1,KCNQ1-AS1 | c.1548G>A (p.Gly516=) c.1905G>A (p.Gly635=) c.1524G>A (p.Gly508=) c.309G>A (p.Gly103=) n.412G>A n.778-7435C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2847877G>C | CA472466647 | KCNQ1,KCNQ1-AS1 | c.1548G>C (p.Gly516=) c.1905G>C (p.Gly635=) c.1524G>C (p.Gly508=) c.309G>C (p.Gly103=) n.412G>C n.778-7435C>G | |
| 11 | g.2847877G= | CA1948349656 | KCNQ1,KCNQ1-AS1 | c.1548G= (p.Gly516=) c.1905G= (p.Gly635=) c.1524G= (p.Gly508=) c.309G= (p.Gly103=) n.412G= n.778-7435C= | |
| 11 | g.2847877G>T | CA472466650 | KCNQ1,KCNQ1-AS1 | c.1548G>T (p.Gly516=) c.1905G>T (p.Gly635=) c.1524G>T (p.Gly508=) c.309G>T (p.Gly103=) n.412G>T n.778-7435C>A | gnomAD v4 |
| 11 | g.2847878G>A | CA379140399 | KCNQ1,KCNQ1-AS1 | c.1549G>A (p.Ala517Thr) c.1906G>A (p.Ala636Thr) c.1525G>A (p.Ala509Thr) c.310G>A (p.Ala104Thr) n.413G>A n.778-7436C>T | gnomAD v4 |
| 11 | g.2847878G>C | CA379140400 | KCNQ1,KCNQ1-AS1 | c.1549G>C (p.Ala517Pro) c.1906G>C (p.Ala636Pro) c.1525G>C (p.Ala509Pro) c.310G>C (p.Ala104Pro) n.413G>C n.778-7436C>G | |
| 11 | g.2847878G>T | CA379140401 | KCNQ1,KCNQ1-AS1 | c.1549G>T (p.Ala517Ser) c.1906G>T (p.Ala636Ser) c.1525G>T (p.Ala509Ser) c.310G>T (p.Ala104Ser) n.413G>T n.778-7436C>A | |
| 11 | g.2847878_2847879delinsGC | CA1948349657 | KCNQ1,KCNQ1-AS1 | c.1549_1550delinsGC (p.Ala517=) c.1906_1907delinsGC (p.Ala636=) c.1525_1526delinsGC (p.Ala509=) c.310_311delinsGC (p.Ala104=) n.413_414delinsGC n.778-7437_778-7436delinsGC |