| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.45093132G>A | CA2653024282 | KCNS1 | c.*1738C>T (n.*1738C>T) | gnomAD v4 |
| 20 | g.45093132G>T | CA2653024281 | KCNS1 | c.*1738C>A (n.*1738C>A) | gnomAD v4 |
| 20 | g.45093133C>A | CA2653024283 | KCNS1 | c.*1737G>T (n.*1737G>T) | gnomAD v4 |
| 20 | g.45093133C>T | CA2653024284 | KCNS1 | c.*1737G>A (n.*1737G>A) | gnomAD v4 |
| 20 | g.45093135T>G | CA315503588 | KCNS1 | c.*1735A>C (n.*1735A>C) | dbSNP |
| 20 | g.45093135T= | CA2366061637 | KCNS1 | c.*1735A= (n.*1735A=) | |
| 20 | g.45093136G>A | CA315503593 | KCNS1 | c.*1734C>T (n.*1734C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45093136G>C | CA744795821 | KCNS1 | c.*1734C>G (n.*1734C>G) | dbSNP |
| 20 | g.45093136G= | CA2366061638 | KCNS1 | c.*1734C= (n.*1734C=) | |
| 20 | g.45093136G>T | CA2653024285 | KCNS1 | c.*1734C>A (n.*1734C>A) | gnomAD v4 |
| 20 | g.45093138C= | CA2366061639 | KCNS1 | c.*1732G= (n.*1732G=) | |
| 20 | g.45093138C>G | CA2366061640 | KCNS1 | c.*1732G>C (n.*1732G>C) | dbSNP |
| 20 | g.45093139T>C | CA2653024286 | KCNS1 | c.*1731A>G (n.*1731A>G) | gnomAD v4 |
| 20 | g.45093140C>A | CA2653024287 | KCNS1 | c.*1730G>T (n.*1730G>T) | gnomAD v4 |
| 20 | g.45093141A= | CA2366061641 | KCNS1 | c.*1729T= (n.*1729T=) | |
| 20 | g.45093141A>G | CA2366061642 | KCNS1 | c.*1729T>C (n.*1729T>C) | dbSNP |
| 20 | g.45093142C>A | CA2527565218 | KCNS1 | c.*1728G>T (n.*1728G>T) | |
| 20 | g.45093142C= | CA2366061643 | KCNS1 | c.*1728G= (n.*1728G=) | |
| 20 | g.45093142C>G | CA744795827 | KCNS1 | c.*1728G>C (n.*1728G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45093142C>T | CA315503598 | KCNS1 | c.*1728G>A (n.*1728G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45093143G>A | CA2366061645 | KCNS1 | c.*1727C>T (n.*1727C>T) | dbSNP gnomAD v4 |
| 20 | g.45093143G= | CA2366061644 | KCNS1 | c.*1727C= (n.*1727C=) | |
| 20 | g.45093143G>T | CA2653024288 | KCNS1 | c.*1727C>A (n.*1727C>A) | gnomAD v4 |
| 20 | g.45093144C>A | CA2653024289 | KCNS1 | c.*1726G>T (n.*1726G>T) | gnomAD v4 |
| 20 | g.45093144C= | CA2366061646 | KCNS1 | c.*1726G= (n.*1726G=) | |
| 20 | g.45093144C>T | CA2366061647 | KCNS1 | c.*1726G>A (n.*1726G>A) | dbSNP |
| 20 | g.45093147A= | CA2366061648 | KCNS1 | c.*1723T= (n.*1723T=) | |
| 20 | g.45093147A>G | CA2366061649 | KCNS1 | c.*1723T>C (n.*1723T>C) | dbSNP |
| 20 | g.45093148G>A | CA2816489504 | KCNS1 | c.*1722C>T (n.*1722C>T) | |
| 20 | g.45093149G>T | CA2653024290 | KCNS1 | c.*1721C>A (n.*1721C>A) | gnomAD v4 |
| 20 | g.45093150C>T | CA2593245348 | KCNS1 | c.*1720G>A (n.*1720G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45093157A>G | CA2653024291 | KCNS1 | c.*1713T>C (n.*1713T>C) | gnomAD v4 |
| 20 | g.45093159T>C | CA315503601 | KCNS1 | c.*1711A>G (n.*1711A>G) | dbSNP gnomAD v4 |
| 20 | g.45093159T>G | CA2366061651 | KCNS1 | c.*1711A>C (n.*1711A>C) | dbSNP |
| 20 | g.45093159T= | CA2366061650 | KCNS1 | c.*1711A= (n.*1711A=) | |
| 20 | g.45093161T>G | CA2736979440 | KCNS1 | c.*1709A>C (n.*1709A>C) | dbSNP |
| 20 | g.45093162T>C | CA2653024292 | KCNS1 | c.*1708A>G (n.*1708A>G) | gnomAD v4 |
| 20 | g.45093168A= | CA2366061652 | KCNS1 | c.*1702T= (n.*1702T=) | |
| 20 | g.45093168A>G | CA1017880710 | KCNS1 | c.*1702T>C (n.*1702T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45093173A= | CA2366061653 | KCNS1 | c.*1697T= (n.*1697T=) | |
| 20 | g.45093173A>T | CA635996456 | KCNS1 | c.*1697T>A (n.*1697T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45093175A= | CA2366061654 | KCNS1 | c.*1695T= (n.*1695T=) | |
| 20 | g.45093175A>T | CA2366061655 | KCNS1 | c.*1695T>A (n.*1695T>A) | dbSNP |
| 20 | g.45093178C>G | CA2653024293 | KCNS1 | c.*1692G>C (n.*1692G>C) | gnomAD v4 |
| 20 | g.45093179A= | CA2366061656 | KCNS1 | c.*1691T= (n.*1691T=) | |
| 20 | g.45093179A>G | CA315503608 | KCNS1 | c.*1691T>C (n.*1691T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45093180C>A | CA2653024294 | KCNS1 | c.*1690G>T (n.*1690G>T) | gnomAD v4 |
| 20 | g.45093180C= | CA2366061657 | KCNS1 | c.*1690G= (n.*1690G=) | |
| 20 | g.45093180C>T | CA1017880715 | KCNS1 | c.*1690G>A (n.*1690G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45093181T>C | CA2366061659 | KCNS1 | c.*1689A>G (n.*1689A>G) | dbSNP |
| 20 | g.45093181T= | CA2366061658 | KCNS1 | c.*1689A= (n.*1689A=) | |
| 20 | g.45093182G>A | CA2366061661 | KCNS1 | c.*1688C>T (n.*1688C>T) | dbSNP gnomAD v4 |
| 20 | g.45093182G= | CA2366061660 | KCNS1 | c.*1688C= (n.*1688C=) | |
| 20 | g.45093182G>T | CA2653024295 | KCNS1 | c.*1688C>A (n.*1688C>A) | gnomAD v4 |
| 20 | g.45093184T>C | CA2653024296 | KCNS1 | c.*1686A>G (n.*1686A>G) | gnomAD v4 |
| 20 | g.45093185G>A | CA2653024297 | KCNS1 | c.*1685C>T (n.*1685C>T) | gnomAD v4 |
| 20 | g.45093186G>A | CA2366061663 | KCNS1 | c.*1684C>T (n.*1684C>T) | dbSNP |
| 20 | g.45093186G= | CA2366061662 | KCNS1 | c.*1684C= (n.*1684C=) | |
| 20 | g.45093186G>T | CA2653024298 | KCNS1 | c.*1684C>A (n.*1684C>A) | gnomAD v4 |
| 20 | g.45093186_45093189delinsGACT | CA2366061664 | KCNS1 | c.*1681_*1684delinsAGTC (n.*1681_*1684delinsAGTC) | |
| 20 | g.45093188_45093190del | CA1017880716 | KCNS1 | c.*1681_*1683del (n.*1681_*1683del) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45093189T= | CA2366061665 | KCNS1 | c.*1681A= (n.*1681A=) | |
| 20 | g.45093191dup | CA2366061666 | KCNS1 | c.*1680dup (n.*1680dup) | dbSNP |
| 20 | g.45093192G>T | CA2653024299 | KCNS1 | c.*1678C>A (n.*1678C>A) | gnomAD v4 |
| 20 | g.45093193C>A | CA2653024300 | KCNS1 | c.*1677G>T (n.*1677G>T) | gnomAD v4 |
| 20 | g.45093193C= | CA2366061667 | KCNS1 | c.*1677G= (n.*1677G=) | |
| 20 | g.45093193C>T | CA635996457 | KCNS1 | c.*1677G>A (n.*1677G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45093194C= | CA2366061668 | KCNS1 | c.*1676G= (n.*1676G=) | |
| 20 | g.45093194C>T | CA315503611 | KCNS1 | c.*1676G>A (n.*1676G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45093195G>A | CA315503614 | KCNS1 | c.*1675C>T (n.*1675C>T) | dbSNP |
| 20 | g.45093195G= | CA2366061669 | KCNS1 | c.*1675C= (n.*1675C=) | |
| 20 | g.45093198del | CA2653024301 | KCNS1 | c.*1674del (n.*1674del) | gnomAD v4 |
| 20 | g.45093199C>A | CA2653024303 | KCNS1 | c.*1671G>T (n.*1671G>T) | gnomAD v4 |
| 20 | g.45093199C>T | CA2653024302 | KCNS1 | c.*1671G>A (n.*1671G>A) | gnomAD v4 |
| 20 | g.45093205T>A | CA2653024304 | KCNS1 | c.*1665A>T (n.*1665A>T) | gnomAD v4 |
| 20 | g.45093205T>C | CA2366061671 | KCNS1 | c.*1665A>G (n.*1665A>G) | dbSNP |
| 20 | g.45093205T= | CA2366061670 | KCNS1 | c.*1665A= (n.*1665A=) | |
| 20 | g.45093206G>A | CA1017880724 | KCNS1 | c.*1664C>T (n.*1664C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45093206G= | CA2366061672 | KCNS1 | c.*1664C= (n.*1664C=) | |
| 20 | g.45093206G>T | CA2653024305 | KCNS1 | c.*1664C>A (n.*1664C>A) | gnomAD v4 |
| 20 | g.45093208A>G | CA2653024306 | KCNS1 | c.*1662T>C (n.*1662T>C) | gnomAD v4 |
| 20 | g.45093210G>A | CA744795842 | KCNS1 | c.*1660C>T (n.*1660C>T) | dbSNP |
| 20 | g.45093210G= | CA2366061673 | KCNS1 | c.*1660C= (n.*1660C=) | |
| 20 | g.45093210G>T | CA2653024307 | KCNS1 | c.*1660C>A (n.*1660C>A) | gnomAD v4 |
| 20 | g.45093211C>A | CA2653024308 | KCNS1 | c.*1659G>T (n.*1659G>T) | gnomAD v4 |
| 20 | g.45093211C= | CA2366061674 | KCNS1 | c.*1659G= (n.*1659G=) | |
| 20 | g.45093211C>T | CA635996458 | KCNS1 | c.*1659G>A (n.*1659G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45093213A= | CA2366061675 | KCNS1 | c.*1657T= (n.*1657T=) | |
| 20 | g.45093213A>T | CA315503621 | KCNS1 | c.*1657T>A (n.*1657T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45093214C>G | CA2653024309 | KCNS1 | c.*1656G>C (n.*1656G>C) | gnomAD v4 |
| 20 | g.45093216C>A | CA2653024310 | KCNS1 | c.*1654G>T (n.*1654G>T) | gnomAD v4 |
| 20 | g.45093216C= | CA2366061676 | KCNS1 | c.*1654G= (n.*1654G=) | |
| 20 | g.45093216C>T | CA315503625 | KCNS1 | c.*1654G>A (n.*1654G>A) | dbSNP |
| 20 | g.45093217A= | CA2366061677 | KCNS1 | c.*1653T= (n.*1653T=) | |
| 20 | g.45093217A>G | CA2653024311 | KCNS1 | c.*1653T>C (n.*1653T>C) | gnomAD v4 |
| 20 | g.45093217A>T | CA315503628 | KCNS1 | c.*1653T>A (n.*1653T>A) | dbSNP |
| 20 | g.45093218T>C | CA315503641 | KCNS1 | c.*1652A>G (n.*1652A>G) | dbSNP gnomAD v4 |
| 20 | g.45093218T>G | CA2736839546 | KCNS1 | c.*1652A>C (n.*1652A>C) | dbSNP |
| 20 | g.45093218T= | CA2366061678 | KCNS1 | c.*1652A= (n.*1652A=) | |
| 20 | g.45093222G>A | CA315503644 | KCNS1 | c.*1648C>T (n.*1648C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45093222G= | CA2366061679 | KCNS1 | c.*1648C= (n.*1648C=) | |
| 20 | g.45093223C>A | CA2653024312 | KCNS1 | c.*1647G>T (n.*1647G>T) | gnomAD v4 |
| 20 | g.45093223C= | CA2366061680 | KCNS1 | c.*1647G= (n.*1647G=) | |
| 20 | g.45093223C>T | CA2366061681 | KCNS1 | c.*1647G>A (n.*1647G>A) | dbSNP |
| 20 | g.45093225_45093227delinsCCA | CA2366061682 | KCNS1 | c.*1643_*1645delinsTGG (n.*1643_*1645delinsTGG) | |
| 20 | g.45093226C>A | CA2653024313 | KCNS1 | c.*1644G>T (n.*1644G>T) | gnomAD v4 |
| 20 | g.45093226C>T | CA2653024314 | KCNS1 | c.*1644G>A (n.*1644G>A) | gnomAD v4 |
| 20 | g.45093226_45093227del | CA2366061683 | KCNS1 | c.*1643_*1644del (n.*1643_*1644del) | dbSNP |
| 20 | g.45093228G>A | CA2653024315 | KCNS1 | c.*1642C>T (n.*1642C>T) | gnomAD v4 |
| 20 | g.45093228G>T | CA2653024316 | KCNS1 | c.*1642C>A (n.*1642C>A) | gnomAD v4 |
| 20 | g.45093229T>C | CA1017880730 | KCNS1 | c.*1641A>G (n.*1641A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45093229T= | CA2366061684 | KCNS1 | c.*1641A= (n.*1641A=) | |
| 20 | g.45093230T>C | CA2653024317 | KCNS1 | c.*1640A>G (n.*1640A>G) | gnomAD v4 |