UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201076934T>A | CA344119418 | CACNA1S | c.1813A>T (p.Ile605Phe) c.*976A>T (n.*976A>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201076934T>C | CA078577 | CACNA1S | c.1813A>G (p.Ile605Val) c.*976A>G (n.*976A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201076934T>G | CA344119427 | CACNA1S | c.1813A>C (p.Ile605Leu) c.*976A>C (n.*976A>C) | |
| 1 | g.201076934T= | CA1145987861 | CACNA1S | c.1813A= (p.Ile605=) c.*976A= (n.*976A=) | |
| 1 | g.201076935G>A | CA078575 | CACNA1S | c.1812C>T (p.Leu604=) c.*975C>T (n.*975C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201076935G>C | CA422689369 | CACNA1S | c.1812C>G (p.Leu604=) c.*975C>G (n.*975C>G) | |
| 1 | g.201076935G= | CA1148295431 | CACNA1S | c.1812C= (p.Leu604=) c.*975C= (n.*975C=) | |
| 1 | g.201076935G>T | CA422689370 | CACNA1S | c.1812C>A (p.Leu604=) c.*975C>A (n.*975C>A) | |
| 1 | g.201076936A>C | CA344119434 | CACNA1S | c.1811T>G (p.Leu604Arg) c.*974T>G (n.*974T>G) | |
| 1 | g.201076936A>G | CA344119435 | CACNA1S | c.1811T>C (p.Leu604Pro) c.*974T>C (n.*974T>C) | |
| 1 | g.201076936A>T | CA344119436 | CACNA1S | c.1811T>A (p.Leu604His) c.*974T>A (n.*974T>A) | |
| 1 | g.201076937G>A | CA344119437 | CACNA1S | c.1810C>T (p.Leu604Phe) c.*973C>T (n.*973C>T) | dbSNP gnomAD v4 |
| 1 | g.201076937G>C | CA344119441 | CACNA1S | c.1810C>G (p.Leu604Val) c.*973C>G (n.*973C>G) | gnomAD v4 |
| 1 | g.201076937G= | CA1219584748 | CACNA1S | c.1810C= (p.Leu604=) c.*973C= (n.*973C=) | |
| 1 | g.201076937G>T | CA344119445 | CACNA1S | c.1810C>A (p.Leu604Ile) c.*973C>A (n.*973C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201076938G>A | CA422689373 | CACNA1S | c.1809C>T (p.Ala603=) c.*972C>T (n.*972C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201076938G>C | CA422689372 | CACNA1S | c.1809C>G (p.Ala603=) c.*972C>G (n.*972C>G) | |
| 1 | g.201076938G= | CA1219584749 | CACNA1S | c.1809C= (p.Ala603=) c.*972C= (n.*972C=) | |
| 1 | g.201076938G>T | CA422689371 | CACNA1S | c.1809C>A (p.Ala603=) c.*972C>A (n.*972C>A) | |
| 1 | g.201076939G>A | CA344119451 | CACNA1S | c.1808C>T (p.Ala603Val) c.*971C>T (n.*971C>T) | COSMIC |
| 1 | g.201076939G>C | CA344119456 | CACNA1S | c.1808C>G (p.Ala603Gly) c.*971C>G (n.*971C>G) | dbSNP gnomAD v2 |
| 1 | g.201076939G= | CA1219584750 | CACNA1S | c.1808C= (p.Ala603=) c.*971C= (n.*971C=) | |
| 1 | g.201076939G>T | CA344119459 | CACNA1S | c.1808C>A (p.Ala603Asp) c.*971C>A (n.*971C>A) | dbSNP |
| 1 | g.201076940C>A | CA344119462 | CACNA1S | c.1807G>T (p.Ala603Ser) c.*970G>T (n.*970G>T) | |
| 1 | g.201076940C>G | CA344119477 | CACNA1S | c.1807G>C (p.Ala603Pro) c.*970G>C (n.*970G>C) | |
| 1 | g.201076940C>T | CA344119467 | CACNA1S | c.1807G>A (p.Ala603Thr) c.*970G>A (n.*970G>A) | |
| 1 | g.201076941T>A | CA344119489 | CACNA1S | c.1806A>T (p.Gln602His) c.*969A>T (n.*969A>T) | |
| 1 | g.201076941T>C | CA422689374 | CACNA1S | c.1806A>G (p.Gln602=) c.*969A>G (n.*969A>G) | gnomAD v4 |
| 1 | g.201076941T>G | CA344119493 | CACNA1S | c.1806A>C (p.Gln602His) c.*969A>C (n.*969A>C) | |
| 1 | g.201076942T>A | CA344119505 | CACNA1S | c.1805A>T (p.Gln602Leu) c.*968A>T (n.*968A>T) | |
| 1 | g.201076942T>C | CA344119507 | CACNA1S | c.1805A>G (p.Gln602Arg) c.*968A>G (n.*968A>G) | |
| 1 | g.201076942T>G | CA344119513 | CACNA1S | c.1805A>C (p.Gln602Pro) c.*968A>C (n.*968A>C) | |
| 1 | g.201076943G>A | CA344119519 | CACNA1S | c.1804C>T (p.Gln602Ter) c.*967C>T (n.*967C>T) | |
| 1 | g.201076943G>C | CA344119522 | CACNA1S | c.1804C>G (p.Gln602Glu) c.*967C>G (n.*967C>G) | dbSNP gnomAD v4 |
| 1 | g.201076943G= | CA1219584751 | CACNA1S | c.1804C= (p.Gln602=) c.*967C= (n.*967C=) | |
| 1 | g.201076943G>T | CA344119523 | CACNA1S | c.1804C>A (p.Gln602Lys) c.*967C>A (n.*967C>A) | |
| 1 | g.201076944G>A | CA422689377 | CACNA1S | c.1803C>T (p.Pro601=) c.*966C>T (n.*966C>T) | COSMIC |
| 1 | g.201076944G>C | CA422689376 | CACNA1S | c.1803C>G (p.Pro601=) c.*966C>G (n.*966C>G) | COSMIC |
| 1 | g.201076944G>T | CA422689375 | CACNA1S | c.1803C>A (p.Pro601=) c.*966C>A (n.*966C>A) | |
| 1 | g.201076945G>A | CA344119524 | CACNA1S | c.1802C>T (p.Pro601Leu) c.*965C>T (n.*965C>T) | |
| 1 | g.201076945G>C | CA344119525 | CACNA1S | c.1802C>G (p.Pro601Arg) c.*965C>G (n.*965C>G) | |
| 1 | g.201076945G>T | CA344119527 | CACNA1S | c.1802C>A (p.Pro601His) c.*965C>A (n.*965C>A) | |
| 1 | g.201076946G>A | CA344119536 | CACNA1S | c.1801C>T (p.Pro601Ser) c.*964C>T (n.*964C>T) | COSMIC |
| 1 | g.201076946G>C | CA344119533 | CACNA1S | c.1801C>G (p.Pro601Ala) c.*964C>G (n.*964C>G) | |
| 1 | g.201076946G= | CA1219584752 | CACNA1S | c.1801C= (p.Pro601=) c.*964C= (n.*964C=) | |
| 1 | g.201076946G>T | CA344119531 | CACNA1S | c.1801C>A (p.Pro601Thr) c.*964C>A (n.*964C>A) | |
| 1 | g.201076947A>C | CA344119539 | CACNA1S | c.1800T>G (p.Phe600Leu) c.*963T>G (n.*963T>G) | |
| 1 | g.201076947A>G | CA422689378 | CACNA1S | c.1800T>C (p.Phe600=) c.*963T>C (n.*963T>C) | |
| 1 | g.201076947A>T | CA344119541 | CACNA1S | c.1800T>A (p.Phe600Leu) c.*963T>A (n.*963T>A) | gnomAD v4 |
| 1 | g.201076949dup | CA730085681 | CACNA1S | c.1800dup (p.Pro601SerfsTer?) c.*963dup (n.*963dup) | dbSNP |
| 1 | g.201076948A>C | CA344119545 | CACNA1S | c.1799T>G (p.Phe600Cys) c.*962T>G (n.*962T>G) | |
| 1 | g.201076948A>G | CA344119546 | CACNA1S | c.1799T>C (p.Phe600Ser) c.*962T>C (n.*962T>C) | |
| 1 | g.201076948A>T | CA344119550 | CACNA1S | c.1799T>A (p.Phe600Tyr) c.*962T>A (n.*962T>A) | |
| 1 | g.201076949A>C | CA344119552 | CACNA1S | c.1798T>G (p.Phe600Val) c.*961T>G (n.*961T>G) | gnomAD v4 |
| 1 | g.201076949A>G | CA344119555 | CACNA1S | c.1798T>C (p.Phe600Leu) c.*961T>C (n.*961T>C) | |
| 1 | g.201076949A>T | CA344119558 | CACNA1S | c.1798T>A (p.Phe600Ile) c.*961T>A (n.*961T>A) | |
| 1 | g.201076950G>A | CA422689379 | CACNA1S | c.1797C>T (p.Asn599=) c.*960C>T (n.*960C>T) | gnomAD v3 gnomAD v4 |
| 1 | g.201076950G>C | CA344119562 | CACNA1S | c.1797C>G (p.Asn599Lys) c.*960C>G (n.*960C>G) | gnomAD v4 |
| 1 | g.201076950G>T | CA344119565 | CACNA1S | c.1797C>A (p.Asn599Lys) c.*960C>A (n.*960C>A) | |
| 1 | g.201076950_201076951delinsGT | CA1219584753 | CACNA1S | c.1796_1797delinsAC (p.Asn599=) c.*959_*960delinsAC (n.*959_*960delinsAC) | |
| 1 | g.201076951T>A | CA344119567 | CACNA1S | c.1796A>T (p.Asn599Ile) c.*959A>T (n.*959A>T) | |
| 1 | g.201076951T>C | CA078573 | CACNA1S | c.1796A>G (p.Asn599Ser) c.*959A>G (n.*959A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201076951T>G | CA344119576 | CACNA1S | c.1796A>C (p.Asn599Thr) c.*959A>C (n.*959A>C) | |
| 1 | g.201076951T= | CA1219584754 | CACNA1S | c.1796A= (p.Asn599=) c.*959A= (n.*959A=) | |
| 1 | g.201076952del | CA891842742 | CACNA1S | c.1796del (p.Asn599ThrfsTer13) c.*959del (n.*959del) | ClinVar dbSNP |
| 1 | g.201076952T>A | CA344119589 | CACNA1S | c.1795A>T (p.Asn599Tyr) c.*958A>T (n.*958A>T) | |
| 1 | g.201076952T>C | CA344119588 | CACNA1S | c.1795A>G (p.Asn599Asp) c.*958A>G (n.*958A>G) | gnomAD v4 |
| 1 | g.201076952T>G | CA344119587 | CACNA1S | c.1795A>C (p.Asn599His) c.*958A>C (n.*958A>C) | |
| 1 | g.201076952_201076955delinsTGTC | CA1219584755 | CACNA1S | c.1792_1795delinsGACA (p.Asp598=) c.*955_*958delinsGACA (n.*955_*958delinsGACA) | |
| 1 | g.201076953G>A | CA078572 | CACNA1S | c.1794C>T (p.Asp598=) c.*957C>T (n.*957C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201076953G>C | CA344119594 | CACNA1S | c.1794C>G (p.Asp598Glu) c.*957C>G (n.*957C>G) | |
| 1 | g.201076953G= | CA1219584756 | CACNA1S | c.1794C= (p.Asp598=) c.*957C= (n.*957C=) | |
| 1 | g.201076953G>T | CA344119595 | CACNA1S | c.1794C>A (p.Asp598Glu) c.*957C>A (n.*957C>A) | |
| 1 | g.201076953_201076955del | CA915941989 | CACNA1S | c.1792_1794del (p.Asp598del) c.*955_*957del (n.*955_*957del) | ClinVar dbSNP |
| 1 | g.201076954T>A | CA078571 | CACNA1S | c.1793A>T (p.Asp598Val) c.*956A>T (n.*956A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201076954T>C | CA344119598 | CACNA1S | c.1793A>G (p.Asp598Gly) c.*956A>G (n.*956A>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201076954T>G | CA344119597 | CACNA1S | c.1793A>C (p.Asp598Ala) c.*956A>C (n.*956A>C) | |
| 1 | g.201076954T= | CA1149120071 | CACNA1S | c.1793A= (p.Asp598=) c.*956A= (n.*956A=) | |
| 1 | g.201076955C>A | CA344119600 | CACNA1S | c.1792G>T (p.Asp598Tyr) c.*955G>T (n.*955G>T) | |
| 1 | g.201076955C>G | CA344119602 | CACNA1S | c.1792G>C (p.Asp598His) c.*955G>C (n.*955G>C) | |
| 1 | g.201076955C>T | CA344119601 | CACNA1S | c.1792G>A (p.Asp598Asn) c.*955G>A (n.*955G>A) | |
| 1 | g.201076956A= | CA1143446491 | CACNA1S | c.1791T= (p.Phe597=) c.*954T= (n.*954T=) | |
| 1 | g.201076956A>C | CA344119603 | CACNA1S | c.1791T>G (p.Phe597Leu) c.*954T>G (n.*954T>G) | gnomAD v4 |
| 1 | g.201076956A>G | CA078570 | CACNA1S | c.1791T>C (p.Phe597=) c.*954T>C (n.*954T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201076956A>T | CA344119606 | CACNA1S | c.1791T>A (p.Phe597Leu) c.*954T>A (n.*954T>A) | |
| 1 | g.201076957A>C | CA344119611 | CACNA1S | c.1790T>G (p.Phe597Cys) c.*953T>G (n.*953T>G) | |
| 1 | g.201076957A>G | CA344119613 | CACNA1S | c.1790T>C (p.Phe597Ser) c.*953T>C (n.*953T>C) | |
| 1 | g.201076957A>T | CA344119614 | CACNA1S | c.1790T>A (p.Phe597Tyr) c.*953T>A (n.*953T>A) | |
| 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) | |
| 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) | 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) | 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) | |
| 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) | 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) | |
| 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) |