SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.
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 |
|---|---|---|---|---|---|
| 1 | g.201076958A>C | CA344119619 | CACNA1S | c.1789T>G (p.Phe597Val) c.*952T>G (n.*952T>G) | |
| 1 | g.201076958A>G | CA344119616 | CACNA1S | c.1789T>C (p.Phe597Leu) c.*952T>C (n.*952T>C) | |
| 1 | g.201076958A>T | CA344119617 | CACNA1S | c.1789T>A (p.Phe597Ile) c.*952T>A (n.*952T>A) | |
| 1 | g.201076959G>A | CA422689383 | CACNA1S | c.1788C>T (p.Asn596=) c.*951C>T (n.*951C>T) | |
| 1 | g.201076959G>C | CA344119622 | CACNA1S | c.1788C>G (p.Asn596Lys) c.*951C>G (n.*951C>G) | gnomAD v4 |
| 1 | g.201076959G>T | CA344119623 | CACNA1S | c.1788C>A (p.Asn596Lys) c.*951C>A (n.*951C>A) | |
| 1 | g.201076960T>A | CA344119627 | CACNA1S | c.1787A>T (p.Asn596Ile) c.*950A>T (n.*950A>T) | |
| 1 | g.201076960T>C | CA078568 | CACNA1S | c.1787A>G (p.Asn596Ser) c.*950A>G (n.*950A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201076960T>G | CA344119631 | CACNA1S | c.1787A>C (p.Asn596Thr) c.*950A>C (n.*950A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201076960T= | CA1144154115 | CACNA1S | c.1787A= (p.Asn596=) c.*950A= (n.*950A=) | |
| 1 | g.201076961T>A | CA344119634 | CACNA1S | c.1786A>T (p.Asn596Tyr) c.*949A>T (n.*949A>T) | |
| 1 | g.201076961T>C | CA344119643 | CACNA1S | c.1786A>G (p.Asn596Asp) c.*949A>G (n.*949A>G) | |
| 1 | g.201076961T>G | CA344119637 | CACNA1S | c.1786A>C (p.Asn596His) c.*949A>C (n.*949A>C) | |
| 1 | g.201076962G>A | CA422689384 | CACNA1S | c.1785C>T (p.Ser595=) c.*948C>T (n.*948C>T) | |
| 1 | g.201076962G>C | CA344119648 | CACNA1S | c.1785C>G (p.Ser595Arg) c.*948C>G (n.*948C>G) | |
| 1 | g.201076962G>T | CA344119651 | CACNA1S | c.1785C>A (p.Ser595Arg) c.*948C>A (n.*948C>A) | COSMIC |
| 1 | g.201076963C>A | CA344119659 | CACNA1S | c.1784G>T (p.Ser595Ile) c.*947G>T (n.*947G>T) | |
| 1 | g.201076963C>G | CA344119662 | CACNA1S | c.1784G>C (p.Ser595Thr) c.*947G>C (n.*947G>C) | |
| 1 | g.201076963C>T | CA344119668 | CACNA1S | c.1784G>A (p.Ser595Asn) c.*947G>A (n.*947G>A) | |
| 1 | g.201076964T>A | CA344119670 | CACNA1S | c.1783A>T (p.Ser595Cys) c.*946A>T (n.*946A>T) | |
| 1 | g.201076964T>C | CA344119672 | CACNA1S | c.1783A>G (p.Ser595Gly) c.*946A>G (n.*946A>G) | |
| 1 | g.201076964T>G | CA344119675 | CACNA1S | c.1783A>C (p.Ser595Arg) c.*946A>C (n.*946A>C) | |
| 1 | g.201076965G>A | CA422689387 | CACNA1S | c.1782C>T (p.Arg594=) c.*945C>T (n.*945C>T) | gnomAD v4 |
| 1 | g.201076965G>C | CA422689386 | CACNA1S | c.1782C>G (p.Arg594=) c.*945C>G (n.*945C>G) | dbSNP |
| 1 | g.201076965G= | CA1219584757 | CACNA1S | c.1782C= (p.Arg594=) c.*945C= (n.*945C=) | |
| 1 | g.201076965G>T | CA422689388 | CACNA1S | c.1782C>A (p.Arg594=) c.*945C>A (n.*945C>A) | |
| 1 | g.201076966C>A | CA078566 | CACNA1S | c.1781G>T (p.Arg594Leu) c.*944G>T (n.*944G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201076966C= | CA1219584758 | CACNA1S | c.1781G= (p.Arg594=) c.*944G= (n.*944G=) | |
| 1 | g.201076966C>G | CA344119677 | CACNA1S | c.1781G>C (p.Arg594Pro) c.*944G>C (n.*944G>C) | |
| 1 | g.201076966C>T | CA078565 | CACNA1S | c.1781G>A (p.Arg594His) c.*944G>A (n.*944G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201076967G>A | CA078564 | CACNA1S | c.1780C>T (p.Arg594Cys) c.*943C>T (n.*943C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201076967G>C | CA344119684 | CACNA1S | c.1780C>G (p.Arg594Gly) c.*943C>G (n.*943C>G) | |
| 1 | g.201076967G= | CA1143400350 | CACNA1S | c.1780C= (p.Arg594=) c.*943C= (n.*943C=) | |
| 1 | g.201076967G>T | CA344119680 | CACNA1S | c.1780C>A (p.Arg594Ser) c.*943C>A (n.*943C>A) | gnomAD v4 |
| 1 | g.201076968C>A | CA422689389 | CACNA1S | c.1779G>T (p.Arg593=) c.*942G>T (n.*942G>T) | gnomAD v4 |
| 1 | g.201076968C= | CA1219584759 | CACNA1S | c.1779G= (p.Arg593=) c.*942G= (n.*942G=) | |
| 1 | g.201076968C>G | CA422689390 | CACNA1S | c.1779G>C (p.Arg593=) c.*942G>C (n.*942G>C) | |
| 1 | g.201076968C>T | CA422689391 | CACNA1S | c.1779G>A (p.Arg593=) c.*942G>A (n.*942G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201076969C>A | CA344119686 | CACNA1S | c.1778G>T (p.Arg593Leu) c.*941G>T (n.*941G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201076969C= | CA1141361323 | CACNA1S | c.1778G= (p.Arg593=) c.*941G= (n.*941G=) | |
| 1 | g.201076969C>G | CA078561 | CACNA1S | c.1778G>C (p.Arg593Pro) c.*941G>C (n.*941G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201076969C>T | CA078560 | CACNA1S | c.1778G>A (p.Arg593Gln) c.*941G>A (n.*941G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201076970G>A | CA078557 | CACNA1S | c.1777C>T (p.Arg593Trp) c.*940C>T (n.*940C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201076970G>C | CA344119698 | CACNA1S | c.1777C>G (p.Arg593Gly) c.*940C>G (n.*940C>G) | |
| 1 | g.201076970G= | CA1141623972 | CACNA1S | c.1777C= (p.Arg593=) c.*940C= (n.*940C=) | |
| 1 | g.201076970G>T | CA078555 | CACNA1S | c.1777C>A (p.Arg593=) c.*940C>A (n.*940C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201076971T>A | CA422689392 | CACNA1S | c.1776A>T (p.Val592=) c.*939A>T (n.*939A>T) | |
| 1 | g.201076971T>C | CA422689394 | CACNA1S | c.1776A>G (p.Val592=) c.*939A>G (n.*939A>G) | gnomAD v4 |
| 1 | g.201076971T>G | CA422689393 | CACNA1S | c.1776A>C (p.Val592=) c.*939A>C (n.*939A>C) | |
| 1 | g.201076972A>C | CA344119702 | CACNA1S | c.1775T>G (p.Val592Gly) c.*938T>G (n.*938T>G) | |
| 1 | g.201076972A>G | CA344119703 | CACNA1S | c.1775T>C (p.Val592Ala) c.*938T>C (n.*938T>C) | |
| 1 | g.201076972A>T | CA344119704 | CACNA1S | c.1775T>A (p.Val592Glu) c.*938T>A (n.*938T>A) | ClinVar |
| 1 | g.201076973C>A | CA344119708 | CACNA1S | c.1774G>T (p.Val592Leu) c.*937G>T (n.*937G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201076973C= | CA1219584760 | CACNA1S | c.1774G= (p.Val592=) c.*937G= (n.*937G=) | |
| 1 | g.201076973C>G | CA344119710 | CACNA1S | c.1774G>C (p.Val592Leu) c.*937G>C (n.*937G>C) | |
| 1 | g.201076973C>T | CA078553 | CACNA1S | c.1774G>A (p.Val592Ile) c.*937G>A (n.*937G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201076974T>A | CA344119725 | CACNA1S | c.1773A>T (p.Glu591Asp) c.*936A>T (n.*936A>T) | |
| 1 | g.201076974T>C | CA422689395 | CACNA1S | c.1773A>G (p.Glu591=) c.*936A>G (n.*936A>G) | |
| 1 | g.201076974T>G | CA344119722 | CACNA1S | c.1773A>C (p.Glu591Asp) c.*936A>C (n.*936A>C) | |
| 1 | g.201076975T>A | CA344119733 | CACNA1S | c.1772A>T (p.Glu591Val) c.*935A>T (n.*935A>T) | |
| 1 | g.201076975T>C | CA344119737 | CACNA1S | c.1772A>G (p.Glu591Gly) c.*935A>G (n.*935A>G) | ClinVar gnomAD v4 |
| 1 | g.201076975T>G | CA344119739 | CACNA1S | c.1772A>C (p.Glu591Ala) c.*935A>C (n.*935A>C) | |
| 1 | g.201076976C>A | CA344119743 | CACNA1S | c.1771G>T (p.Glu591Ter) c.*934G>T (n.*934G>T) | dbSNP |
| 1 | g.201076976C= | CA1219584761 | CACNA1S | c.1771G= (p.Glu591=) c.*934G= (n.*934G=) | |
| 1 | g.201076976C>G | CA344119746 | CACNA1S | c.1771G>C (p.Glu591Gln) c.*934G>C (n.*934G>C) | gnomAD v4 |
| 1 | g.201076976C>T | CA344119747 | CACNA1S | c.1771G>A (p.Glu591Lys) c.*934G>A (n.*934G>A) | COSMIC |
| 1 | g.201076976_201076977insAAAG | CA528536700 | CACNA1S | c.1770_1771insCTTT (p.Glu591LeufsTer2) c.*933_*934insCTTT (n.*933_*934insCTTT) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201076977T>A | CA422689397 | CACNA1S | c.1770A>T (p.Thr590=) c.*933A>T (n.*933A>T) | |
| 1 | g.201076977T>C | CA422689396 | CACNA1S | c.1770A>G (p.Thr590=) c.*933A>G (n.*933A>G) | dbSNP |
| 1 | g.201076977T>G | CA422689398 | CACNA1S | c.1770A>C (p.Thr590=) c.*933A>C (n.*933A>C) | |
| 1 | g.201076977T= | CA1219584762 | CACNA1S | c.1770A= (p.Thr590=) c.*933A= (n.*933A=) | |
| 1 | g.201076977_201076978insCATACCTCCCCCCAAA | CA528536701 | CACNA1S | c.1769_1770insTTTGGGGGGAGGTATG (p.Glu591LeufsTer13) c.*932_*933insTTTGGGGGGAGGTATG (n.*932_*933insTTTGGGGGGAGGTATG) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201076978G>A | CA344119749 | CACNA1S | c.1769C>T (p.Thr590Ile) c.*932C>T (n.*932C>T) | dbSNP gnomAD v2 |
| 1 | g.201076978G>C | CA344119751 | CACNA1S | c.1769C>G (p.Thr590Arg) c.*932C>G (n.*932C>G) | |
| 1 | g.201076978G= | CA1219584763 | CACNA1S | c.1769C= (p.Thr590=) c.*932C= (n.*932C=) | |
| 1 | g.201076978G>T | CA344119752 | CACNA1S | c.1769C>A (p.Thr590Lys) c.*932C>A (n.*932C>A) | |
| 1 | g.201076979T>A | CA344119753 | CACNA1S | c.1768A>T (p.Thr590Ser) c.*931A>T (n.*931A>T) | |
| 1 | g.201076979T>C | CA344119755 | CACNA1S | c.1768A>G (p.Thr590Ala) c.*931A>G (n.*931A>G) | ClinVar dbSNP |
| 1 | g.201076979T>G | CA344119757 | CACNA1S | c.1768A>C (p.Thr590Pro) c.*931A>C (n.*931A>C) | gnomAD v4 |
| 1 | g.201076979T= | CA1219584764 | CACNA1S | c.1768A= (p.Thr590=) c.*931A= (n.*931A=) | |
| 1 | g.201076979_201076980insCAT | CA528536702 | CACNA1S | c.1768_1769insTGA (p.Asp589_Thr590insMet) c.*931_*932insTGA (n.*931_*932insTGA) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201076980G>A | CA422689399 | CACNA1S | c.1767C>T (p.Asp589=) c.*930C>T (n.*930C>T) | |
| 1 | g.201076980G>C | CA344119767 | CACNA1S | c.1767C>G (p.Asp589Glu) c.*930C>G (n.*930C>G) | |
| 1 | g.201076980G>T | CA344119765 | CACNA1S | c.1767C>A (p.Asp589Glu) c.*930C>A (n.*930C>A) | |
| 1 | g.201076981T>A | CA344119768 | CACNA1S | c.1766A>T (p.Asp589Val) c.*929A>T (n.*929A>T) | |
| 1 | g.201076981T>C | CA344119770 | CACNA1S | c.1766A>G (p.Asp589Gly) c.*929A>G (n.*929A>G) | |
| 1 | g.201076981T>G | CA344119769 | CACNA1S | c.1766A>C (p.Asp589Ala) c.*929A>C (n.*929A>C) | |
| 1 | g.201076982C>A | CA344119773 | CACNA1S | c.1765G>T (p.Asp589Tyr) c.*928G>T (n.*928G>T) | |
| 1 | g.201076982C>G | CA344119779 | CACNA1S | c.1765G>C (p.Asp589His) c.*928G>C (n.*928G>C) | |
| 1 | g.201076982C>T | CA344119780 | CACNA1S | c.1765G>A (p.Asp589Asn) c.*928G>A (n.*928G>A) | |
| 1 | g.201076983T>A | CA344119783 | CACNA1S | c.1764A>T (p.Glu588Asp) c.*927A>T (n.*927A>T) | |
| 1 | g.201076983T>C | CA422689400 | CACNA1S | c.1764A>G (p.Glu588=) c.*927A>G (n.*927A>G) | |
| 1 | g.201076983T>G | CA344119790 | CACNA1S | c.1764A>C (p.Glu588Asp) c.*927A>C (n.*927A>C) | |
| 1 | g.201076984T>A | CA344119792 | CACNA1S | c.1763A>T (p.Glu588Val) c.*926A>T (n.*926A>T) | |
| 1 | g.201076984T>C | CA344119793 | CACNA1S | c.1763A>G (p.Glu588Gly) c.*926A>G (n.*926A>G) | |
| 1 | g.201076984T>G | CA344119794 | CACNA1S | c.1763A>C (p.Glu588Ala) c.*926A>C (n.*926A>C) | |
| 1 | g.201076985C>A | CA344119796 | CACNA1S | c.1762G>T (p.Glu588Ter) c.*925G>T (n.*925G>T) | dbSNP |
| 1 | g.201076985C= | CA1219584765 | CACNA1S | c.1762G= (p.Glu588=) c.*925G= (n.*925G=) | |
| 1 | g.201076985C>G | CA344119798 | CACNA1S | c.1762G>C (p.Glu588Gln) c.*925G>C (n.*925G>C) | |
| 1 | g.201076985C>T | CA344119800 | CACNA1S | c.1762G>A (p.Glu588Lys) c.*925G>A (n.*925G>A) | COSMIC |
| 1 | g.201076986A>C | CA344119803 | CACNA1S | c.1761T>G (p.Phe587Leu) c.*924T>G (n.*924T>G) | |
| 1 | g.201076986A>G | CA422689402 | CACNA1S | c.1761T>C (p.Phe587=) c.*924T>C (n.*924T>C) | |
| 1 | g.201076986A>T | CA344119805 | CACNA1S | c.1761T>A (p.Phe587Leu) c.*924T>A (n.*924T>A) | |
| 1 | g.201076987A>C | CA344119806 | CACNA1S | c.1760T>G (p.Phe587Cys) c.*923T>G (n.*923T>G) | |
| 1 | g.201076987A>G | CA344119808 | CACNA1S | c.1760T>C (p.Phe587Ser) c.*923T>C (n.*923T>C) | gnomAD v4 |
| 1 | g.201076987A>T | CA344119807 | CACNA1S | c.1760T>A (p.Phe587Tyr) c.*923T>A (n.*923T>A) | |
| 1 | g.201076988A>C | CA344119809 | CACNA1S | c.1759T>G (p.Phe587Val) c.*922T>G (n.*922T>G) | |
| 1 | g.201076988A>G | CA344119810 | CACNA1S | c.1759T>C (p.Phe587Leu) c.*922T>C (n.*922T>C) | |
| 1 | g.201076988A>T | CA344119812 | CACNA1S | c.1759T>A (p.Phe587Ile) c.*922T>A (n.*922T>A) | |
| 1 | g.201076989G>A | CA422689403 | CACNA1S | c.1758C>T (p.Asp586=) c.*921C>T (n.*921C>T) | |
| 1 | g.201076989G>C | CA344119814 | CACNA1S | c.1758C>G (p.Asp586Glu) c.*921C>G (n.*921C>G) | |
| 1 | g.201076989G= | CA1219584766 | CACNA1S | c.1758C= (p.Asp586=) c.*921C= (n.*921C=) | |
| 1 | g.201076989G>T | CA078551 | CACNA1S | c.1758C>A (p.Asp586Glu) c.*921C>A (n.*921C>A) | dbSNP ExAC gnomAD v2 |
| 1 | g.201076990T>A | CA344119815 | CACNA1S | c.1757A>T (p.Asp586Val) c.*920A>T (n.*920A>T) | |
| 1 | g.201076990T>C | CA344119818 | CACNA1S | c.1757A>G (p.Asp586Gly) c.*920A>G (n.*920A>G) | |
| 1 | g.201076990T>G | CA344119819 | CACNA1S | c.1757A>C (p.Asp586Ala) c.*920A>C (n.*920A>C) | |
| 1 | g.201076991C>A | CA344119820 | CACNA1S | c.1756G>T (p.Asp586Tyr) c.*919G>T (n.*919G>T) | |
| 1 | g.201076991C>G | CA344119822 | CACNA1S | c.1756G>C (p.Asp586His) c.*919G>C (n.*919G>C) | |
| 1 | g.201076991C>T | CA344119824 | CACNA1S | c.1756G>A (p.Asp586Asn) c.*919G>A (n.*919G>A) | COSMIC |
| 1 | g.201076992A>C | CA344119830 | CACNA1S | c.1755T>G (p.Tyr585Ter) c.*918T>G (n.*918T>G) | |
| 1 | g.201076992A>G | CA422689405 | CACNA1S | c.1755T>C (p.Tyr585=) c.*918T>C (n.*918T>C) | gnomAD v4 |
| 1 | g.201076992A>T | CA344119832 | CACNA1S | c.1755T>A (p.Tyr585Ter) c.*918T>A (n.*918T>A) | |
| 1 | g.201076993T>A | CA344119835 | CACNA1S | c.1754A>T (p.Tyr585Phe) c.*917A>T (n.*917A>T) | |
| 1 | g.201076993T>C | CA344119836 | CACNA1S | c.1754A>G (p.Tyr585Cys) c.*917A>G (n.*917A>G) | gnomAD v4 |
| 1 | g.201076993T>G | CA344119838 | CACNA1S | c.1754A>C (p.Tyr585Ser) c.*917A>C (n.*917A>C) | |
| 1 | g.201076994A>C | CA344119841 | CACNA1S | c.1753T>G (p.Tyr585Asp) c.*916T>G (n.*916T>G) | |
| 1 | g.201076994A>G | CA344119844 | CACNA1S | c.1753T>C (p.Tyr585His) c.*916T>C (n.*916T>C) | |
| 1 | g.201076994A>T | CA344119847 | CACNA1S | c.1753T>A (p.Tyr585Asn) c.*916T>A (n.*916T>A) | |
| 1 | g.201076995C>A | CA344119849 | CACNA1S | c.1752G>T (p.Arg584Ser) c.*915G>T (n.*915G>T) | |
| 1 | g.201076995C>G | CA344119850 | CACNA1S | c.1752G>C (p.Arg584Ser) c.*915G>C (n.*915G>C) | |
| 1 | g.201076995C>T | CA422689407 | CACNA1S | c.1752G>A (p.Arg584=) c.*915G>A (n.*915G>A) | ClinVar gnomAD v4 |
| 1 | g.201076996C>A | CA344119851 | CACNA1S | c.1751G>T (p.Arg584Met) c.*914G>T (n.*914G>T) | |
| 1 | g.201076996C>G | CA344119852 | CACNA1S | c.1751G>C (p.Arg584Thr) c.*914G>C (n.*914G>C) | |
| 1 | g.201076996C>T | CA344119854 | CACNA1S | c.1751G>A (p.Arg584Lys) c.*914G>A (n.*914G>A) | |
| 1 | g.201076997T>A | CA344119857 | CACNA1S | c.1750A>T (p.Arg584Trp) c.*913A>T (n.*913A>T) | |
| 1 | g.201076997T>C | CA344119858 | CACNA1S | c.1750A>G (p.Arg584Gly) c.*913A>G (n.*913A>G) | |
| 1 | g.201076997T>G | CA422689408 | CACNA1S | c.1750A>C (p.Arg584=) c.*913A>C (n.*913A>C) | ClinVar dbSNP |
| 1 | g.201076998C>A | CA422689411 | CACNA1S | c.1749G>T (p.Gly583=) c.*912G>T (n.*912G>T) | gnomAD v4 |
| 1 | g.201076998C>G | CA422689409 | CACNA1S | c.1749G>C (p.Gly583=) c.*912G>C (n.*912G>C) | |
| 1 | g.201076998C>T | CA422689410 | CACNA1S | c.1749G>A (p.Gly583=) c.*912G>A (n.*912G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201077003dup | CA645526279 | CACNA1S | c.1749dup (p.Arg584GlufsTer3) c.*912dup (n.*912dup) | ClinVar COSMIC |
| 1 | g.201077003del | CA2649766208 | CACNA1S | c.1749del (p.Arg584GlyfsTer28) c.*912del (n.*912del) | gnomAD v4 |
| 1 | g.201076999C>A | CA344119865 | CACNA1S | c.1748G>T (p.Gly583Val) c.*911G>T (n.*911G>T) | |
| 1 | g.201076999C= | CA1219584767 | CACNA1S | c.1748G= (p.Gly583=) c.*911G= (n.*911G=) | |
| 1 | g.201076999C>G | CA344119859 | CACNA1S | c.1748G>C (p.Gly583Ala) c.*911G>C (n.*911G>C) | |
| 1 | g.201076999C>T | CA344119861 | CACNA1S | c.1748G>A (p.Gly583Glu) c.*911G>A (n.*911G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.201077000C>A | CA344119866 | CACNA1S | c.1747G>T (p.Gly583Trp) c.*910G>T (n.*910G>T) | |
| 1 | g.201077000C= | CA1219584768 | CACNA1S | c.1747G= (p.Gly583=) c.*910G= (n.*910G=) | |
| 1 | g.201077000C>G | CA344119867 | CACNA1S | c.1747G>C (p.Gly583Arg) c.*910G>C (n.*910G>C) | |
| 1 | g.201077000C>T | CA344119868 | CACNA1S | c.1747G>A (p.Gly583Arg) c.*910G>A (n.*910G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201077001C>A | CA422689413 | CACNA1S | c.1746G>T (p.Gly582=) c.*909G>T (n.*909G>T) | |
| 1 | g.201077001C>G | CA422689412 | CACNA1S | c.1746G>C (p.Gly582=) c.*909G>C (n.*909G>C) | ClinVar |
| 1 | g.201077001C>T | CA422689415 | CACNA1S | c.1746G>A (p.Gly582=) c.*909G>A (n.*909G>A) | |
| 1 | g.201077002C>A | CA078550 | CACNA1S | c.1745G>T (p.Gly582Val) c.*908G>T (n.*908G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.201077002C= | CA1144194505 | CACNA1S | c.1745G= (p.Gly582=) c.*908G= (n.*908G=) | |
| 1 | g.201077002C>G | CA078549 | CACNA1S | c.1745G>C (p.Gly582Ala) c.*908G>C (n.*908G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077002C>T | CA078547 | CACNA1S | c.1745G>A (p.Gly582Glu) c.*908G>A (n.*908G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077003C>A | CA344119870 | CACNA1S | c.1744G>T (p.Gly582Trp) c.*907G>T (n.*907G>T) | ClinVar |
| 1 | g.201077003C= | CA1219584769 | CACNA1S | c.1744G= (p.Gly582=) c.*907G= (n.*907G=) | |
| 1 | g.201077003C>G | CA344119872 | CACNA1S | c.1744G>C (p.Gly582Arg) c.*907G>C (n.*907G>C) | ClinVar dbSNP |
| 1 | g.201077003C>T | CA344119881 | CACNA1S | c.1744G>A (p.Gly582Arg) c.*907G>A (n.*907G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201077004A>C | CA344119884 | CACNA1S | c.1743T>G (p.Phe581Leu) c.*906T>G (n.*906T>G) | |
| 1 | g.201077004A>G | CA422689416 | CACNA1S | c.1743T>C (p.Phe581=) c.*906T>C (n.*906T>C) | |
| 1 | g.201077004A>T | CA344119886 | CACNA1S | c.1743T>A (p.Phe581Leu) c.*906T>A (n.*906T>A) | |
| 1 | g.201077005A= | CA1219584770 | CACNA1S | c.1742T= (p.Phe581=) c.*905T= (n.*905T=) | |
| 1 | g.201077005A>C | CA078545 | CACNA1S | c.1742T>G (p.Phe581Cys) c.*905T>G (n.*905T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201077005A>G | CA078543 | CACNA1S | c.1742T>C (p.Phe581Ser) c.*905T>C (n.*905T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077005A>T | CA344119888 | CACNA1S | c.1742T>A (p.Phe581Tyr) c.*905T>A (n.*905T>A) | |
| 1 | g.201077006A>C | CA344119891 | CACNA1S | c.1741T>G (p.Phe581Val) c.*904T>G (n.*904T>G) | |
| 1 | g.201077006A>G | CA344119893 | CACNA1S | c.1741T>C (p.Phe581Leu) c.*904T>C (n.*904T>C) | |
| 1 | g.201077006A>T | CA344119895 | CACNA1S | c.1741T>A (p.Phe581Ile) c.*904T>A (n.*904T>A) | |
| 1 | g.201077007G>A | CA078541 | CACNA1S | c.1740C>T (p.Leu580=) c.*903C>T (n.*903C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077007G>C | CA422689417 | CACNA1S | c.1740C>G (p.Leu580=) c.*903C>G (n.*903C>G) | |
| 1 | g.201077007G= | CA1149134071 | CACNA1S | c.1740C= (p.Leu580=) c.*903C= (n.*903C=) | |
| 1 | g.201077007G>T | CA422689418 | CACNA1S | c.1740C>A (p.Leu580=) c.*903C>A (n.*903C>A) | |
| 1 | g.201077008A>C | CA344119899 | CACNA1S | c.1739T>G (p.Leu580Arg) c.*902T>G (n.*902T>G) | |
| 1 | g.201077008A>G | CA344119901 | CACNA1S | c.1739T>C (p.Leu580Pro) c.*902T>C (n.*902T>C) | gnomAD v4 |
| 1 | g.201077008A>T | CA344119903 | CACNA1S | c.1739T>A (p.Leu580His) c.*902T>A (n.*902T>A) | |
| 1 | g.201077009G>A | CA344119911 | CACNA1S | c.1738C>T (p.Leu580Phe) c.*901C>T (n.*901C>T) | |
| 1 | g.201077009G>C | CA344119907 | CACNA1S | c.1738C>G (p.Leu580Val) c.*901C>G (n.*901C>G) | |
| 1 | g.201077009G= | CA1219584771 | CACNA1S | c.1738C= (p.Leu580=) c.*901C= (n.*901C=) | |
| 1 | g.201077009G>T | CA344119909 | CACNA1S | c.1738C>A (p.Leu580Ile) c.*901C>A (n.*901C>A) | dbSNP |
| 1 | g.201077010C>A | CA344119914 | CACNA1S | c.1737G>T (p.Gln579His) c.*900G>T (n.*900G>T) | |
| 1 | g.201077010C>G | CA344119916 | CACNA1S | c.1737G>C (p.Gln579His) c.*900G>C (n.*900G>C) | |
| 1 | g.201077010C>T | CA422689419 | CACNA1S | c.1737G>A (p.Gln579=) c.*900G>A (n.*900G>A) | |
| 1 | g.201077011T>A | CA344119918 | CACNA1S | c.1736A>T (p.Gln579Leu) c.*899A>T (n.*899A>T) | |
| 1 | g.201077011T>C | CA344119920 | CACNA1S | c.1736A>G (p.Gln579Arg) c.*899A>G (n.*899A>G) | |
| 1 | g.201077011T>G | CA344119922 | CACNA1S | c.1736A>C (p.Gln579Pro) c.*899A>C (n.*899A>C) | |
| 1 | g.201077012G>A | CA344119925 | CACNA1S | c.1735C>T (p.Gln579Ter) c.*898C>T (n.*898C>T) | |
| 1 | g.201077012G>C | CA344119929 | CACNA1S | c.1735C>G (p.Gln579Glu) c.*898C>G (n.*898C>G) | |
| 1 | g.201077012G>T | CA344119927 | CACNA1S | c.1735C>A (p.Gln579Lys) c.*898C>A (n.*898C>A) | |
| 1 | g.201077013C>A | CA344119933 | CACNA1S | c.1734G>T (p.Met578Ile) c.*897G>T (n.*897G>T) | |
| 1 | g.201077013C= | CA1219584772 | CACNA1S | c.1734G= (p.Met578=) c.*897G= (n.*897G=) | |
| 1 | g.201077013C>G | CA344119934 | CACNA1S | c.1734G>C (p.Met578Ile) c.*897G>C (n.*897G>C) | |
| 1 | g.201077013C>T | CA344119936 | CACNA1S | c.1734G>A (p.Met578Ile) c.*897G>A (n.*897G>A) | ClinVar dbSNP |
| 1 | g.201077014A= | CA1219584773 | CACNA1S | c.1733T= (p.Met578=) c.*896T= (n.*896T=) | |
| 1 | g.201077014A>C | CA344119939 | CACNA1S | c.1733T>G (p.Met578Arg) c.*896T>G (n.*896T>G) | |
| 1 | g.201077014A>G | CA344119941 | CACNA1S | c.1733T>C (p.Met578Thr) c.*896T>C (n.*896T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201077014A>T | CA344119942 | CACNA1S | c.1733T>A (p.Met578Lys) c.*896T>A (n.*896T>A) | |
| 1 | g.201077015T>A | CA344119945 | CACNA1S | c.1732A>T (p.Met578Leu) c.*895A>T (n.*895A>T) | |
| 1 | g.201077015T>C | CA344119947 | CACNA1S | c.1732A>G (p.Met578Val) c.*895A>G (n.*895A>G) | ClinVar gnomAD v4 |
| 1 | g.201077015T>G | CA078539 | CACNA1S | c.1732A>C (p.Met578Leu) c.*895A>C (n.*895A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201077015T= | CA1219584774 | CACNA1S | c.1732A= (p.Met578=) c.*895A= (n.*895A=) | |
| 1 | g.201077016G>A | CA422689420 | CACNA1S | c.1731C>T (p.Gly577=) c.*894C>T (n.*894C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201077016G>C | CA422689421 | CACNA1S | c.1731C>G (p.Gly577=) c.*894C>G (n.*894C>G) | |
| 1 | g.201077016G= | CA1219584775 | CACNA1S | c.1731C= (p.Gly577=) c.*894C= (n.*894C=) | |
| 1 | g.201077016G>T | CA422689422 | CACNA1S | c.1731C>A (p.Gly577=) c.*894C>A (n.*894C>A) | dbSNP |
| 1 | g.201077017C>A | CA344119951 | CACNA1S | c.1730G>T (p.Gly577Val) c.*893G>T (n.*893G>T) | gnomAD v4 |
| 1 | g.201077017C>G | CA344119952 | CACNA1S | c.1730G>C (p.Gly577Ala) c.*893G>C (n.*893G>C) | COSMIC |
| 1 | g.201077017C>T | CA344119953 | CACNA1S | c.1730G>A (p.Gly577Asp) c.*893G>A (n.*893G>A) | gnomAD v4 |
| 1 | g.201077018C>A | CA344119963 | CACNA1S | c.1729G>T (p.Gly577Cys) c.*892G>T (n.*892G>T) | |
| 1 | g.201077018C>G | CA344119959 | CACNA1S | c.1729G>C (p.Gly577Arg) c.*892G>C (n.*892G>C) | |
| 1 | g.201077018C>T | CA344119961 | CACNA1S | c.1729G>A (p.Gly577Ser) c.*892G>A (n.*892G>A) | gnomAD v4 |
| 1 | g.201077019C>A | CA422689424 | CACNA1S | c.1728G>T (p.Leu576=) c.*891G>T (n.*891G>T) | |
| 1 | g.201077019C= | CA1219584776 | CACNA1S | c.1728G= (p.Leu576=) c.*891G= (n.*891G=) | |
| 1 | g.201077019C>G | CA422689423 | CACNA1S | c.1728G>C (p.Leu576=) c.*891G>C (n.*891G>C) | |
| 1 | g.201077019C>T | CA078536 | CACNA1S | c.1728G>A (p.Leu576=) c.*891G>A (n.*891G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077020A>C | CA344119967 | CACNA1S | c.1727T>G (p.Leu576Arg) c.*890T>G (n.*890T>G) | |
| 1 | g.201077020A>G | CA344119969 | CACNA1S | c.1727T>C (p.Leu576Pro) c.*890T>C (n.*890T>C) | gnomAD v4 |
| 1 | g.201077020A>T | CA344119972 | CACNA1S | c.1727T>A (p.Leu576Gln) c.*890T>A (n.*890T>A) | |
| 1 | g.201077021G>A | CA422689425 | CACNA1S | c.1726C>T (p.Leu576=) c.*889C>T (n.*889C>T) | |
| 1 | g.201077021G>C | CA344119974 | CACNA1S | c.1726C>G (p.Leu576Val) c.*889C>G (n.*889C>G) | |
| 1 | g.201077021G>T | CA344119975 | CACNA1S | c.1726C>A (p.Leu576Met) c.*889C>A (n.*889C>A) | |
| 1 | g.201077022G>A | CA10608752 | CACNA1S | c.1725C>T (p.Leu575=) c.*888C>T (n.*888C>T) | ClinVar dbSNP COSMIC |
| 1 | g.201077022G>C | CA422689427 | CACNA1S | c.1725C>G (p.Leu575=) c.*888C>G (n.*888C>G) | gnomAD v4 |
| 1 | g.201077022G= | CA1219584777 | CACNA1S | c.1725C= (p.Leu575=) c.*888C= (n.*888C=) | |
| 1 | g.201077022G>T | CA422689426 | CACNA1S | c.1725C>A (p.Leu575=) c.*888C>A (n.*888C>A) | |
| 1 | g.201077023A= | CA1148868499 | CACNA1S | c.1724T= (p.Leu575=) c.*887T= (n.*887T=) | |
| 1 | g.201077023A>C | CA344119976 | CACNA1S | c.1724T>G (p.Leu575Arg) c.*887T>G (n.*887T>G) | |
| 1 | g.201077023A>G | CA078534 | CACNA1S | c.1724T>C (p.Leu575Pro) c.*887T>C (n.*887T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201077023A>T | CA344119981 | CACNA1S | c.1724T>A (p.Leu575His) c.*887T>A (n.*887T>A) | |
| 1 | g.201077024G>A | CA078532 | CACNA1S | c.1723C>T (p.Leu575Phe) c.*886C>T (n.*886C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201077024G>C | CA344119986 | CACNA1S | c.1723C>G (p.Leu575Val) c.*886C>G (n.*886C>G) | |
| 1 | g.201077024G= | CA1219584778 | CACNA1S | c.1723C= (p.Leu575=) c.*886C= (n.*886C=) | |
| 1 | g.201077024G>T | CA344119988 | CACNA1S | c.1723C>A (p.Leu575Ile) c.*886C>A (n.*886C>A) | |
| 1 | g.201077025G>A | CA422689429 | CACNA1S | c.1722C>T (p.Ala574=) c.*885C>T (n.*885C>T) | ClinVar |
| 1 | g.201077025G>C | CA422689428 | CACNA1S | c.1722C>G (p.Ala574=) c.*885C>G (n.*885C>G) | |
| 1 | g.201077025G>T | CA422689430 | CACNA1S | c.1722C>A (p.Ala574=) c.*885C>A (n.*885C>A) | |
| 1 | g.201077026G>A | CA35977603 | CACNA1S | c.1721C>T (p.Ala574Val) c.*884C>T (n.*884C>T) | ClinVar dbSNP |
| 1 | g.201077026G>C | CA344119990 | CACNA1S | c.1721C>G (p.Ala574Gly) c.*884C>G (n.*884C>G) | gnomAD v4 |
| 1 | g.201077026G= | CA1219584779 | CACNA1S | c.1721C= (p.Ala574=) c.*884C= (n.*884C=) | |
| 1 | g.201077026G>T | CA344119989 | CACNA1S | c.1721C>A (p.Ala574Asp) c.*884C>A (n.*884C>A) | |
| 1 | g.201077027C>A | CA344119991 | CACNA1S | c.1720G>T (p.Ala574Ser) c.*883G>T (n.*883G>T) | |
| 1 | g.201077027C= | CA1219584780 | CACNA1S | c.1720G= (p.Ala574=) c.*883G= (n.*883G=) | |
| 1 | g.201077027C>G | CA344119992 | CACNA1S | c.1720G>C (p.Ala574Pro) c.*883G>C (n.*883G>C) | |
| 1 | g.201077027C>T | CA078529 | CACNA1S | c.1720G>A (p.Ala574Thr) c.*883G>A (n.*883G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201077028G>A | CA078527 | CACNA1S | c.1719C>T (p.Phe573=) c.*882C>T (n.*882C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201077028G>C | CA344119996 | CACNA1S | c.1719C>G (p.Phe573Leu) c.*882C>G (n.*882C>G) | |
| 1 | g.201077028G= | CA1219584781 | CACNA1S | c.1719C= (p.Phe573=) c.*882C= (n.*882C=) | |
| 1 | g.201077028G>T | CA344119998 | CACNA1S | c.1719C>A (p.Phe573Leu) c.*882C>A (n.*882C>A) | |
| 1 | g.201077029A>C | CA344120001 | CACNA1S | c.1718T>G (p.Phe573Cys) c.*881T>G (n.*881T>G) | |
| 1 | g.201077029A>G | CA344120003 | CACNA1S | c.1718T>C (p.Phe573Ser) c.*881T>C (n.*881T>C) | |
| 1 | g.201077029A>T | CA344120005 | CACNA1S | c.1718T>A (p.Phe573Tyr) c.*881T>A (n.*881T>A) | |
| 1 | g.201077030A>C | CA344120006 | CACNA1S | c.1717T>G (p.Phe573Val) c.*880T>G (n.*880T>G) | |
| 1 | g.201077030A>G | CA344120007 | CACNA1S | c.1717T>C (p.Phe573Leu) c.*880T>C (n.*880T>C) | |
| 1 | g.201077030A>T | CA344120011 | CACNA1S | c.1717T>A (p.Phe573Ile) c.*880T>A (n.*880T>A) | |
| 1 | g.201077031G>A | CA422689431 | CACNA1S | c.1716C>T (p.Ile572=) c.*879C>T (n.*879C>T) | gnomAD v4 |
| 1 | g.201077031G>C | CA344120015 | CACNA1S | c.1716C>G (p.Ile572Met) c.*879C>G (n.*879C>G) | |
| 1 | g.201077031G>T | CA422689432 | CACNA1S | c.1716C>A (p.Ile572=) c.*879C>A (n.*879C>A) | gnomAD v4 |
| 1 | g.201077032A>C | CA344120029 | CACNA1S | c.1715T>G (p.Ile572Ser) c.*878T>G (n.*878T>G) | |
| 1 | g.201077032A>G | CA344120039 | CACNA1S | c.1715T>C (p.Ile572Thr) c.*878T>C (n.*878T>C) | |
| 1 | g.201077032A>T | CA344120021 | CACNA1S | c.1715T>A (p.Ile572Asn) c.*878T>A (n.*878T>A) | |
| 1 | g.201077033T>A | CA344120042 | CACNA1S | c.1714A>T (p.Ile572Phe) c.*877A>T (n.*877A>T) | |
| 1 | g.201077033T>C | CA344120048 | CACNA1S | c.1714A>G (p.Ile572Val) c.*877A>G (n.*877A>G) | dbSNP gnomAD v4 |
| 1 | g.201077033T>G | CA344120045 | CACNA1S | c.1714A>C (p.Ile572Leu) c.*877A>C (n.*877A>C) | |
| 1 | g.201077033T= | CA1219584782 | CACNA1S | c.1714A= (p.Ile572=) c.*877A= (n.*877A=) | |
| 1 | g.201077034G>A | CA35977615 | CACNA1S | c.1713C>T (p.Val571=) c.*876C>T (n.*876C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201077034G>C | CA422689434 | CACNA1S | c.1713C>G (p.Val571=) c.*876C>G (n.*876C>G) | |
| 1 | g.201077034G= | CA1219584783 | CACNA1S | c.1713C= (p.Val571=) c.*876C= (n.*876C=) | |
| 1 | g.201077034G>T | CA422689433 | CACNA1S | c.1713C>A (p.Val571=) c.*876C>A (n.*876C>A) | |
| 1 | g.201077035A>C | CA344120051 | CACNA1S | c.1712T>G (p.Val571Gly) c.*875T>G (n.*875T>G) | |
| 1 | g.201077035A>G | CA344120052 | CACNA1S | c.1712T>C (p.Val571Ala) c.*875T>C (n.*875T>C) | |
| 1 | g.201077035A>T | CA344120053 | CACNA1S | c.1712T>A (p.Val571Asp) c.*875T>A (n.*875T>A) | |
| 1 | g.201077036C>A | CA344120055 | CACNA1S | c.1711G>T (p.Val571Phe) c.*874G>T (n.*874G>T) | dbSNP gnomAD v4 |
| 1 | g.201077036C= | CA1141386212 | CACNA1S | c.1711G= (p.Val571=) c.*874G= (n.*874G=) | |
| 1 | g.201077036C>G | CA344120057 | CACNA1S | c.1711G>C (p.Val571Leu) c.*874G>C (n.*874G>C) | |
| 1 | g.201077036C>T | CA078525 | CACNA1S | c.1711G>A (p.Val571Ile) c.*874G>A (n.*874G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077037G>A | CA422689435 | CACNA1S | c.1710C>T (p.Ile570=) c.*873C>T (n.*873C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.201077037G>C | CA344120069 | CACNA1S | c.1710C>G (p.Ile570Met) c.*873C>G (n.*873C>G) | |
| 1 | g.201077037G= | CA1219584784 | CACNA1S | c.1710C= (p.Ile570=) c.*873C= (n.*873C=) | |
| 1 | g.201077037G>T | CA422689436 | CACNA1S | c.1710C>A (p.Ile570=) c.*873C>A (n.*873C>A) | dbSNP |
| 1 | g.201077038A>C | CA344120072 | CACNA1S | c.1709T>G (p.Ile570Ser) c.*872T>G (n.*872T>G) | |
| 1 | g.201077038A>G | CA344120075 | CACNA1S | c.1709T>C (p.Ile570Thr) c.*872T>C (n.*872T>C) | gnomAD v4 |
| 1 | g.201077038A>T | CA344120079 | CACNA1S | c.1709T>A (p.Ile570Asn) c.*872T>A (n.*872T>A) | |
| 1 | g.201077039T>A | CA344120084 | CACNA1S | c.1708A>T (p.Ile570Phe) c.*871A>T (n.*871A>T) | |
| 1 | g.201077039T>C | CA344120091 | CACNA1S | c.1708A>G (p.Ile570Val) c.*871A>G (n.*871A>G) | gnomAD v4 |
| 1 | g.201077039T>G | CA344120093 | CACNA1S | c.1708A>C (p.Ile570Leu) c.*871A>C (n.*871A>C) | |
| 1 | g.201077040G>A | CA422689437 | CACNA1S | c.1707C>T (p.Phe569=) c.*870C>T (n.*870C>T) | gnomAD v4 |
| 1 | g.201077040G>C | CA344120095 | CACNA1S | c.1707C>G (p.Phe569Leu) c.*870C>G (n.*870C>G) | ClinVar |
| 1 | g.201077040G>T | CA344120098 | CACNA1S | c.1707C>A (p.Phe569Leu) c.*870C>A (n.*870C>A) | |
| 1 | g.201077041A>C | CA344120099 | CACNA1S | c.1706T>G (p.Phe569Cys) c.*869T>G (n.*869T>G) | |
| 1 | g.201077041A>G | CA344120100 | CACNA1S | c.1706T>C (p.Phe569Ser) c.*869T>C (n.*869T>C) | |
| 1 | g.201077041A>T | CA344120101 | CACNA1S | c.1706T>A (p.Phe569Tyr) c.*869T>A (n.*869T>A) | |
| 1 | g.201077042A>C | CA344120104 | CACNA1S | c.1705T>G (p.Phe569Val) c.*868T>G (n.*868T>G) | |
| 1 | g.201077042A>G | CA344120110 | CACNA1S | c.1705T>C (p.Phe569Leu) c.*868T>C (n.*868T>C) | |
| 1 | g.201077042A>T | CA344120111 | CACNA1S | c.1705T>A (p.Phe569Ile) c.*868T>A (n.*868T>A) | |
| 1 | g.201077043G>A | CA422689439 | CACNA1S | c.1704C>T (p.Leu568=) c.*867C>T (n.*867C>T) | gnomAD v4 |
| 1 | g.201077043G>C | CA422689438 | CACNA1S | c.1704C>G (p.Leu568=) c.*867C>G (n.*867C>G) | ClinVar |
| 1 | g.201077043G= | CA1143503412 | CACNA1S | c.1704C= (p.Leu568=) c.*867C= (n.*867C=) | |
| 1 | g.201077043G>T | CA078523 | CACNA1S | c.1704C>A (p.Leu568=) c.*867C>A (n.*867C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077044A>C | CA344120122 | CACNA1S | c.1703T>G (p.Leu568Arg) c.*866T>G (n.*866T>G) | |
| 1 | g.201077044A>G | CA344120125 | CACNA1S | c.1703T>C (p.Leu568Pro) c.*866T>C (n.*866T>C) | |
| 1 | g.201077044A>T | CA344120128 | CACNA1S | c.1703T>A (p.Leu568His) c.*866T>A (n.*866T>A) | |
| 1 | g.201077045G>A | CA344120133 | CACNA1S | c.1702C>T (p.Leu568Phe) c.*865C>T (n.*865C>T) | dbSNP |
| 1 | g.201077045G>C | CA344120132 | CACNA1S | c.1702C>G (p.Leu568Val) c.*865C>G (n.*865C>G) | gnomAD v4 |
| 1 | g.201077045G= | CA1219584785 | CACNA1S | c.1702C= (p.Leu568=) c.*865C= (n.*865C=) | |
| 1 | g.201077045G>T | CA344120131 | CACNA1S | c.1702C>A (p.Leu568Ile) c.*865C>A (n.*865C>A) | |
| 1 | g.201077046G>A | CA422689440 | CACNA1S | c.1701C>T (p.Phe567=) c.*864C>T (n.*864C>T) | ClinVar COSMIC |
| 1 | g.201077046G>C | CA344120134 | CACNA1S | c.1701C>G (p.Phe567Leu) c.*864C>G (n.*864C>G) | |
| 1 | g.201077046G>T | CA344120136 | CACNA1S | c.1701C>A (p.Phe567Leu) c.*864C>A (n.*864C>A) | |
| 1 | g.201077047A>C | CA344120139 | CACNA1S | c.1700T>G (p.Phe567Cys) c.*863T>G (n.*863T>G) | |
| 1 | g.201077047A>G | CA344120142 | CACNA1S | c.1700T>C (p.Phe567Ser) c.*863T>C (n.*863T>C) | |
| 1 | g.201077047A>T | CA344120151 | CACNA1S | c.1700T>A (p.Phe567Tyr) c.*863T>A (n.*863T>A) | |
| 1 | g.201077048A>C | CA344120156 | CACNA1S | c.1699T>G (p.Phe567Val) c.*862T>G (n.*862T>G) | |
| 1 | g.201077048A>G | CA344120164 | CACNA1S | c.1699T>C (p.Phe567Leu) c.*862T>C (n.*862T>C) | |
| 1 | g.201077048A>T | CA344120168 | CACNA1S | c.1699T>A (p.Phe567Ile) c.*862T>A (n.*862T>A) | |
| 1 | g.201077049G>A | CA422689442 | CACNA1S | c.1698C>T (p.Leu566=) c.*861C>T (n.*861C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201077049G>C | CA422689441 | CACNA1S | c.1698C>G (p.Leu566=) c.*861C>G (n.*861C>G) | |
| 1 | g.201077049G= | CA1219584787 | CACNA1S | c.1698C= (p.Leu566=) c.*861C= (n.*861C=) | |
| 1 | g.201077049G>T | CA422689443 | CACNA1S | c.1698C>A (p.Leu566=) c.*861C>A (n.*861C>A) | |
| 1 | g.201077049_201077052delinsGAGC | CA1219584786 | CACNA1S | c.1695_1698delinsGCTC (p.Leu565=) c.*858_*861delinsGCTC (n.*858_*861delinsGCTC) | |
| 1 | g.201077050A>C | CA344120177 | CACNA1S | c.1697T>G (p.Leu566Arg) c.*860T>G (n.*860T>G) | |
| 1 | g.201077050A>G | CA344120180 | CACNA1S | c.1697T>C (p.Leu566Pro) c.*860T>C (n.*860T>C) | gnomAD v4 |
| 1 | g.201077050A>T | CA344120182 | CACNA1S | c.1697T>A (p.Leu566His) c.*860T>A (n.*860T>A) | |
| 1 | g.201077061_201077063dup | CA1011169318 | CACNA1S | c.1695_1697dup (p.Leu566_Phe567insLeu) c.*858_*860dup (n.*858_*860dup) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201077061_201077063del | CA078521 | CACNA1S | c.1695_1697del (p.Leu566del) c.*858_*860del (n.*858_*860del) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.201077051G>A | CA344120195 | CACNA1S | c.1696C>T (p.Leu566Phe) c.*859C>T (n.*859C>T) | dbSNP |
| 1 | g.201077051G>C | CA344120186 | CACNA1S | c.1696C>G (p.Leu566Val) c.*859C>G (n.*859C>G) | |
| 1 | g.201077051G= | CA1219584788 | CACNA1S | c.1696C= (p.Leu566=) c.*859C= (n.*859C=) | |
| 1 | g.201077051G>T | CA344120184 | CACNA1S | c.1696C>A (p.Leu566Ile) c.*859C>A (n.*859C>A) | |
| 1 | g.201077052C>A | CA422689444 | CACNA1S | c.1695G>T (p.Leu565=) c.*858G>T (n.*858G>T) | |
| 1 | g.201077052C>G | CA422689445 | CACNA1S | c.1695G>C (p.Leu565=) c.*858G>C (n.*858G>C) | |
| 1 | g.201077052C>T | CA422689446 | CACNA1S | c.1695G>A (p.Leu565=) c.*858G>A (n.*858G>A) | |
| 1 | g.201077053A>C | CA344120198 | CACNA1S | c.1694T>G (p.Leu565Arg) c.*857T>G (n.*857T>G) | |
| 1 | g.201077053A>G | CA344120204 | CACNA1S | c.1694T>C (p.Leu565Pro) c.*857T>C (n.*857T>C) | |
| 1 | g.201077053A>T | CA344120209 | CACNA1S | c.1694T>A (p.Leu565Gln) c.*857T>A (n.*857T>A) | ClinVar dbSNP |
| 1 | g.201077054G>A | CA422689448 | CACNA1S | c.1693C>T (p.Leu565=) c.*856C>T (n.*856C>T) | gnomAD v4 |
| 1 | g.201077054G>C | CA344120213 | CACNA1S | c.1693C>G (p.Leu565Val) c.*856C>G (n.*856C>G) | |
| 1 | g.201077054G>T | CA344120216 | CACNA1S | c.1693C>A (p.Leu565Met) c.*856C>A (n.*856C>A) | |
| 1 | g.201077055C>A | CA422689449 | CACNA1S | c.1692G>T (p.Leu564=) c.*855G>T (n.*855G>T) | |
| 1 | g.201077055C= | CA1219584789 | CACNA1S | c.1692G= (p.Leu564=) c.*855G= (n.*855G=) | |
| 1 | g.201077055C>G | CA422689451 | CACNA1S | c.1692G>C (p.Leu564=) c.*855G>C (n.*855G>C) | |
| 1 | g.201077055C>T | CA422689450 | CACNA1S | c.1692G>A (p.Leu564=) c.*855G>A (n.*855G>A) | dbSNP gnomAD v2 |
| 1 | g.201077056A>C | CA344120218 | CACNA1S | c.1691T>G (p.Leu564Arg) c.*854T>G (n.*854T>G) | |
| 1 | g.201077056A>G | CA344120224 | CACNA1S | c.1691T>C (p.Leu564Pro) c.*854T>C (n.*854T>C) | |
| 1 | g.201077056A>T | CA344120226 | CACNA1S | c.1691T>A (p.Leu564Gln) c.*854T>A (n.*854T>A) | |
| 1 | g.201077057G>A | CA422689452 | CACNA1S | c.1690C>T (p.Leu564=) c.*853C>T (n.*853C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201077057G>C | CA344120227 | CACNA1S | c.1690C>G (p.Leu564Val) c.*853C>G (n.*853C>G) | |
| 1 | g.201077057G= | CA1219584790 | CACNA1S | c.1690C= (p.Leu564=) c.*853C= (n.*853C=) | |
| 1 | g.201077057G>T | CA35977650 | CACNA1S | c.1690C>A (p.Leu564Met) c.*853C>A (n.*853C>A) | dbSNP |
| 1 | g.201077058C>A | CA422689454 | CACNA1S | c.1689G>T (p.Leu563=) c.*852G>T (n.*852G>T) | ClinVar |
| 1 | g.201077058C>G | CA422689453 | CACNA1S | c.1689G>C (p.Leu563=) c.*852G>C (n.*852G>C) | |
| 1 | g.201077058C>T | CA422689455 | CACNA1S | c.1689G>A (p.Leu563=) c.*852G>A (n.*852G>A) |