| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 1 | g.201077059A>C | CA344120237 | CACNA1S | c.1688T>G (p.Leu563Arg) c.*851T>G (n.*851T>G) | |
| 1 | g.201077059A>G | CA344120241 | CACNA1S | c.1688T>C (p.Leu563Pro) c.*851T>C (n.*851T>C) | |
| 1 | g.201077059A>T | CA344120245 | CACNA1S | c.1688T>A (p.Leu563Gln) c.*851T>A (n.*851T>A) | |
| 1 | g.201077060G>A | CA422689458 | CACNA1S | c.1687C>T (p.Leu563=) c.*850C>T (n.*850C>T) | |
| 1 | g.201077060G>C | CA344120255 | CACNA1S | c.1687C>G (p.Leu563Val) c.*850C>G (n.*850C>G) | |
| 1 | g.201077060G= | CA1219584791 | CACNA1S | c.1687C= (p.Leu563=) c.*850C= (n.*850C=) | |
| 1 | g.201077060G>T | CA35977660 | CACNA1S | c.1687C>A (p.Leu563Met) c.*850C>A (n.*850C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201077061C>A | CA422689462 | CACNA1S | c.1686G>T (p.Leu562=) c.*849G>T (n.*849G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201077061C= | CA1219584792 | CACNA1S | c.1686G= (p.Leu562=) c.*849G= (n.*849G=) | |
| 1 | g.201077061C>G | CA35977666 | CACNA1S | c.1686G>C (p.Leu562=) c.*849G>C (n.*849G>C) | dbSNP gnomAD v4 COSMIC |
| 1 | g.201077061C>T | CA422689463 | CACNA1S | c.1686G>A (p.Leu562=) c.*849G>A (n.*849G>A) | |
| 1 | g.201077062A>C | CA344120258 | CACNA1S | c.1685T>G (p.Leu562Arg) c.*848T>G (n.*848T>G) | |
| 1 | g.201077062A>G | CA344120264 | CACNA1S | c.1685T>C (p.Leu562Pro) c.*848T>C (n.*848T>C) | |
| 1 | g.201077062A>T | CA344120260 | CACNA1S | c.1685T>A (p.Leu562Gln) c.*848T>A (n.*848T>A) | |
| 1 | g.201077063G>A | CA35977676 | CACNA1S | c.1684C>T (p.Leu562=) c.*847C>T (n.*847C>T) | ClinVar dbSNP |
| 1 | g.201077063G>C | CA344120265 | CACNA1S | c.1684C>G (p.Leu562Val) c.*847C>G (n.*847C>G) | |
| 1 | g.201077063G= | CA1219584793 | CACNA1S | c.1684C= (p.Leu562=) c.*847C= (n.*847C=) | |
| 1 | g.201077063G>T | CA344120266 | CACNA1S | c.1684C>A (p.Leu562Met) c.*847C>A (n.*847C>A) | |
| 1 | g.201077064G>A | CA422689469 | CACNA1S | c.1683C>T (p.Ser561=) c.*846C>T (n.*846C>T) | |
| 1 | g.201077064G>C | CA422689472 | CACNA1S | c.1683C>G (p.Ser561=) c.*846C>G (n.*846C>G) | |
| 1 | g.201077064G>T | CA422689471 | CACNA1S | c.1683C>A (p.Ser561=) c.*846C>A (n.*846C>A) | |
| 1 | g.201077065G>A | CA344120268 | CACNA1S | c.1682C>T (p.Ser561Phe) c.*845C>T (n.*845C>T) | dbSNP |
| 1 | g.201077065G>C | CA344120271 | CACNA1S | c.1682C>G (p.Ser561Cys) c.*845C>G (n.*845C>G) | |
| 1 | g.201077065G= | CA1219584794 | CACNA1S | c.1682C= (p.Ser561=) c.*845C= (n.*845C=) | |
| 1 | g.201077065G>T | CA344120270 | CACNA1S | c.1682C>A (p.Ser561Tyr) c.*845C>A (n.*845C>A) | COSMIC |
| 1 | g.201077066A= | CA1219584795 | CACNA1S | c.1681T= (p.Ser561=) c.*844T= (n.*844T=) | |
| 1 | g.201077066A>C | CA344120273 | CACNA1S | c.1681T>G (p.Ser561Ala) c.*844T>G (n.*844T>G) | |
| 1 | g.201077066A>G | CA344120274 | CACNA1S | c.1681T>C (p.Ser561Pro) c.*844T>C (n.*844T>C) | dbSNP gnomAD v4 |
| 1 | g.201077066A>T | CA344120275 | CACNA1S | c.1681T>A (p.Ser561Thr) c.*844T>A (n.*844T>A) | |
| 1 | g.201077067G>A | CA078520 | CACNA1S | c.1680C>T (p.Ala560=) c.*843C>T (n.*843C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201077067G>C | CA422689475 | CACNA1S | c.1680C>G (p.Ala560=) c.*843C>G (n.*843C>G) | |
| 1 | g.201077067G= | CA1219584796 | CACNA1S | c.1680C= (p.Ala560=) c.*843C= (n.*843C=) | |
| 1 | g.201077067G>T | CA422689474 | CACNA1S | c.1680C>A (p.Ala560=) c.*843C>A (n.*843C>A) | |
| 1 | g.201077068G>A | CA344120278 | CACNA1S | c.1679C>T (p.Ala560Val) c.*842C>T (n.*842C>T) | |
| 1 | g.201077068G>C | CA344120286 | CACNA1S | c.1679C>G (p.Ala560Gly) c.*842C>G (n.*842C>G) | |
| 1 | g.201077068G>T | CA344120298 | CACNA1S | c.1679C>A (p.Ala560Asp) c.*842C>A (n.*842C>A) | |
| 1 | g.201077069C>A | CA344120304 | CACNA1S | c.1678G>T (p.Ala560Ser) c.*841G>T (n.*841G>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201077069C= | CA1219584797 | CACNA1S | c.1678G= (p.Ala560=) c.*841G= (n.*841G=) | |
| 1 | g.201077069C>G | CA344120307 | CACNA1S | c.1678G>C (p.Ala560Pro) c.*841G>C (n.*841G>C) | gnomAD v4 |
| 1 | g.201077069C>T | CA078518 | CACNA1S | c.1678G>A (p.Ala560Thr) c.*841G>A (n.*841G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077070G>A | CA078515 | CACNA1S | c.1677C>T (p.Ile559=) c.*840C>T (n.*840C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077070G>C | CA344120314 | CACNA1S | c.1677C>G (p.Ile559Met) c.*840C>G (n.*840C>G) | |
| 1 | g.201077070G= | CA1143833713 | CACNA1S | c.1677C= (p.Ile559=) c.*840C= (n.*840C=) | |
| 1 | g.201077070G>T | CA422689484 | CACNA1S | c.1677C>A (p.Ile559=) c.*840C>A (n.*840C>A) | |
| 1 | g.201077071A>C | CA344120316 | CACNA1S | c.1676T>G (p.Ile559Ser) c.*839T>G (n.*839T>G) | |
| 1 | g.201077071A>G | CA344120322 | CACNA1S | c.1676T>C (p.Ile559Thr) c.*839T>C (n.*839T>C) | |
| 1 | g.201077071A>T | CA344120320 | CACNA1S | c.1676T>A (p.Ile559Asn) c.*839T>A (n.*839T>A) | |
| 1 | g.201077072T>A | CA344120327 | CACNA1S | c.1675A>T (p.Ile559Phe) c.*838A>T (n.*838A>T) | |
| 1 | g.201077072T>C | CA344120330 | CACNA1S | c.1675A>G (p.Ile559Val) c.*838A>G (n.*838A>G) | |
| 1 | g.201077072T>G | CA344120332 | CACNA1S | c.1675A>C (p.Ile559Leu) c.*838A>C (n.*838A>C) | |
| 1 | g.201077073G>A | CA422689490 | CACNA1S | c.1674C>T (p.Ser558=) c.*837C>T (n.*837C>T) | gnomAD v4 |
| 1 | g.201077073G>C | CA422689491 | CACNA1S | c.1674C>G (p.Ser558=) c.*837C>G (n.*837C>G) | |
| 1 | g.201077073G= | CA1219584798 | CACNA1S | c.1674C= (p.Ser558=) c.*837C= (n.*837C=) | |
| 1 | g.201077073G>T | CA078514 | CACNA1S | c.1674C>A (p.Ser558=) c.*837C>A (n.*837C>A) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.201077074G>A | CA344120339 | CACNA1S | c.1673C>T (p.Ser558Phe) c.*836C>T (n.*836C>T) | |
| 1 | g.201077074G>C | CA344120342 | CACNA1S | c.1673C>G (p.Ser558Cys) c.*836C>G (n.*836C>G) | |
| 1 | g.201077074G>T | CA344120344 | CACNA1S | c.1673C>A (p.Ser558Tyr) c.*836C>A (n.*836C>A) | |
| 1 | g.201077075A>C | CA344120347 | CACNA1S | c.1672T>G (p.Ser558Ala) c.*835T>G (n.*835T>G) | |
| 1 | g.201077075A>G | CA344120350 | CACNA1S | c.1672T>C (p.Ser558Pro) c.*835T>C (n.*835T>C) | |
| 1 | g.201077075A>T | CA344120351 | CACNA1S | c.1672T>A (p.Ser558Thr) c.*835T>A (n.*835T>A) | |
| 1 | g.201077076G>A | CA078513 | CACNA1S | c.1671C>T (p.Arg557=) c.*834C>T (n.*834C>T) | dbSNP ExAC |
| 1 | g.201077076G>C | CA422689497 | CACNA1S | c.1671C>G (p.Arg557=) c.*834C>G (n.*834C>G) | |
| 1 | g.201077076G= | CA1219584799 | CACNA1S | c.1671C= (p.Arg557=) c.*834C= (n.*834C=) | |
| 1 | g.201077076G>T | CA422689498 | CACNA1S | c.1671C>A (p.Arg557=) c.*834C>A (n.*834C>A) | dbSNP gnomAD v4 |
| 1 | g.201077077C>A | CA344120372 | CACNA1S | c.1670G>T (p.Arg557Leu) c.*833G>T (n.*833G>T) | gnomAD v4 |
| 1 | g.201077077C= | CA1140048442 | CACNA1S | c.1670G= (p.Arg557=) c.*833G= (n.*833G=) | |
| 1 | g.201077077C>G | CA344120360 | CACNA1S | c.1670G>C (p.Arg557Pro) c.*833G>C (n.*833G>C) | |
| 1 | g.201077077C>T | CA078511 | CACNA1S | c.1670G>A (p.Arg557His) c.*833G>A (n.*833G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201077078G>A | CA078509 | CACNA1S | c.1669C>T (p.Arg557Cys) c.*832C>T (n.*832C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201077078G>C | CA344120380 | CACNA1S | c.1669C>G (p.Arg557Gly) c.*832C>G (n.*832C>G) | gnomAD v4 |
| 1 | g.201077078G= | CA1219584800 | CACNA1S | c.1669C= (p.Arg557=) c.*832C= (n.*832C=) | |
| 1 | g.201077078G>T | CA344120384 | CACNA1S | c.1669C>A (p.Arg557Ser) c.*832C>A (n.*832C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201077079G>A | CA422689500 | CACNA1S | c.1668C>T (p.Ile556=) c.*831C>T (n.*831C>T) | |
| 1 | g.201077079G>C | CA344120385 | CACNA1S | c.1668C>G (p.Ile556Met) c.*831C>G (n.*831C>G) | |
| 1 | g.201077079G>T | CA422689503 | CACNA1S | c.1668C>A (p.Ile556=) c.*831C>A (n.*831C>A) | gnomAD v4 |
| 1 | g.201077080A>C | CA344120386 | CACNA1S | c.1667T>G (p.Ile556Ser) c.*830T>G (n.*830T>G) | |
| 1 | g.201077080A>G | CA344120389 | CACNA1S | c.1667T>C (p.Ile556Thr) c.*830T>C (n.*830T>C) | |
| 1 | g.201077080A>T | CA344120392 | CACNA1S | c.1667T>A (p.Ile556Asn) c.*830T>A (n.*830T>A) | |
| 1 | g.201077081T>A | CA344120396 | CACNA1S | c.1666A>T (p.Ile556Phe) c.*829A>T (n.*829A>T) | |
| 1 | g.201077081T>C | CA344120399 | CACNA1S | c.1666A>G (p.Ile556Val) c.*829A>G (n.*829A>G) | |
| 1 | g.201077081T>G | CA344120403 | CACNA1S | c.1666A>C (p.Ile556Leu) c.*829A>C (n.*829A>C) | |
| 1 | g.201077082G>A | CA422689508 | CACNA1S | c.1665C>T (p.Ser555=) c.*828C>T (n.*828C>T) | gnomAD v4 |
| 1 | g.201077082G>C | CA422689510 | CACNA1S | c.1665C>G (p.Ser555=) c.*828C>G (n.*828C>G) | |
| 1 | g.201077082G>T | CA422689509 | CACNA1S | c.1665C>A (p.Ser555=) c.*828C>A (n.*828C>A) | COSMIC |
| 1 | g.201077083G>A | CA344120418 | CACNA1S | c.1664C>T (p.Ser555Phe) c.*827C>T (n.*827C>T) | |
| 1 | g.201077083G>C | CA344120408 | CACNA1S | c.1664C>G (p.Ser555Cys) c.*827C>G (n.*827C>G) | ClinVar dbSNP |
| 1 | g.201077083G= | CA1219584801 | CACNA1S | c.1664C= (p.Ser555=) c.*827C= (n.*827C=) | |
| 1 | g.201077083G>T | CA344120411 | CACNA1S | c.1664C>A (p.Ser555Tyr) c.*827C>A (n.*827C>A) | |
| 1 | g.201077084A= | CA1219584802 | CACNA1S | c.1663T= (p.Ser555=) c.*826T= (n.*826T=) | |
| 1 | g.201077084A>C | CA344120421 | CACNA1S | c.1663T>G (p.Ser555Ala) c.*826T>G (n.*826T>G) | |
| 1 | g.201077084A>G | CA344120427 | CACNA1S | c.1663T>C (p.Ser555Pro) c.*826T>C (n.*826T>C) | dbSNP |
| 1 | g.201077084A>T | CA344120436 | CACNA1S | c.1663T>A (p.Ser555Thr) c.*826T>A (n.*826T>A) | |
| 1 | g.201077085G>A | CA422689517 | CACNA1S | c.1662C>T (p.Asn554=) c.*825C>T (n.*825C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201077085G>C | CA344120437 | CACNA1S | c.1662C>G (p.Asn554Lys) c.*825C>G (n.*825C>G) | gnomAD v4 |
| 1 | g.201077085G= | CA1219584803 | CACNA1S | c.1662C= (p.Asn554=) c.*825C= (n.*825C=) | |
| 1 | g.201077085G>T | CA344120438 | CACNA1S | c.1662C>A (p.Asn554Lys) c.*825C>A (n.*825C>A) | |
| 1 | g.201077086T>A | CA344120440 | CACNA1S | c.1661A>T (p.Asn554Ile) c.*824A>T (n.*824A>T) | |
| 1 | g.201077086T>C | CA344120441 | CACNA1S | c.1661A>G (p.Asn554Ser) c.*824A>G (n.*824A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201077086T>G | CA344120450 | CACNA1S | c.1661A>C (p.Asn554Thr) c.*824A>C (n.*824A>C) | dbSNP |
| 1 | g.201077086T= | CA1219584804 | CACNA1S | c.1661A= (p.Asn554=) c.*824A= (n.*824A=) | |
| 1 | g.201077087T>A | CA344120454 | CACNA1S | c.1660A>T (p.Asn554Tyr) c.*823A>T (n.*823A>T) | |
| 1 | g.201077087T>C | CA344120456 | CACNA1S | c.1660A>G (p.Asn554Asp) c.*823A>G (n.*823A>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201077087T>G | CA344120458 | CACNA1S | c.1660A>C (p.Asn554His) c.*823A>C (n.*823A>C) | |
| 1 | g.201077087T= | CA1219584805 | CACNA1S | c.1660A= (p.Asn554=) c.*823A= (n.*823A=) | |
| 1 | g.201077088G>A | CA078506 | CACNA1S | c.1659C>T (p.Leu553=) c.*822C>T (n.*822C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077088G>C | CA422689522 | CACNA1S | c.1659C>G (p.Leu553=) c.*822C>G (n.*822C>G) | |
| 1 | g.201077088G= | CA1147688255 | CACNA1S | c.1659C= (p.Leu553=) c.*822C= (n.*822C=) | |
| 1 | g.201077088G>T | CA422689523 | CACNA1S | c.1659C>A (p.Leu553=) c.*822C>A (n.*822C>A) | ClinVar |
| 1 | g.201077089A= | CA1219584806 | CACNA1S | c.1658T= (p.Leu553=) c.*821T= (n.*821T=) | |
| 1 | g.201077089A>C | CA344120467 | CACNA1S | c.1658T>G (p.Leu553Arg) c.*821T>G (n.*821T>G) | |
| 1 | g.201077089A>G | CA344120468 | CACNA1S | c.1658T>C (p.Leu553Pro) c.*821T>C (n.*821T>C) | |
| 1 | g.201077089A>T | CA078503 | CACNA1S | c.1658T>A (p.Leu553His) c.*821T>A (n.*821T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201077090G>A | CA344120482 | CACNA1S | c.1657C>T (p.Leu553Phe) c.*820C>T (n.*820C>T) | gnomAD v4 |
| 1 | g.201077090G>C | CA344120480 | CACNA1S | c.1657C>G (p.Leu553Val) c.*820C>G (n.*820C>G) | |
| 1 | g.201077090G>T | CA344120481 | CACNA1S | c.1657C>A (p.Leu553Ile) c.*820C>A (n.*820C>A) | |
| 1 | g.201077091C>A | CA422689525 | CACNA1S | c.1656G>T (p.Leu552=) c.*819G>T (n.*819G>T) | |
| 1 | g.201077091C= | CA1219584807 | CACNA1S | c.1656G= (p.Leu552=) c.*819G= (n.*819G=) | |
| 1 | g.201077091C>G | CA422689529 | CACNA1S | c.1656G>C (p.Leu552=) c.*819G>C (n.*819G>C) | |
| 1 | g.201077091C>T | CA078501 | CACNA1S | c.1656G>A (p.Leu552=) c.*819G>A (n.*819G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077092A>C | CA344120491 | CACNA1S | c.1655T>G (p.Leu552Arg) c.*818T>G (n.*818T>G) | |
| 1 | g.201077092A>G | CA344120500 | CACNA1S | c.1655T>C (p.Leu552Pro) c.*818T>C (n.*818T>C) | gnomAD v4 |
| 1 | g.201077092A>T | CA344120502 | CACNA1S | c.1655T>A (p.Leu552Gln) c.*818T>A (n.*818T>A) | |
| 1 | g.201077093G>A | CA422689531 | CACNA1S | c.1654C>T (p.Leu552=) c.*817C>T (n.*817C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201077093G>C | CA344120504 | CACNA1S | c.1654C>G (p.Leu552Val) c.*817C>G (n.*817C>G) | |
| 1 | g.201077093G= | CA1219584808 | CACNA1S | c.1654C= (p.Leu552=) c.*817C= (n.*817C=) | |
| 1 | g.201077093G>T | CA344120507 | CACNA1S | c.1654C>A (p.Leu552Met) c.*817C>A (n.*817C>A) | |
| 1 | g.201077094G>A | CA422689534 | CACNA1S | c.1653C>T (p.Ser551=) c.*816C>T (n.*816C>T) | |
| 1 | g.201077094G>C | CA422689536 | CACNA1S | c.1653C>G (p.Ser551=) c.*816C>G (n.*816C>G) | |
| 1 | g.201077094G>T | CA422689535 | CACNA1S | c.1653C>A (p.Ser551=) c.*816C>A (n.*816C>A) | |
| 1 | g.201077095G>A | CA344120510 | CACNA1S | c.1652C>T (p.Ser551Phe) c.*815C>T (n.*815C>T) | |
| 1 | g.201077095G>C | CA344120512 | CACNA1S | c.1652C>G (p.Ser551Cys) c.*815C>G (n.*815C>G) | |
| 1 | g.201077095G>T | CA344120516 | CACNA1S | c.1652C>A (p.Ser551Tyr) c.*815C>A (n.*815C>A) | |
| 1 | g.201077096A= | CA1219584809 | CACNA1S | c.1651T= (p.Ser551=) c.*814T= (n.*814T=) | |
| 1 | g.201077096A>C | CA344120524 | CACNA1S | c.1651T>G (p.Ser551Ala) c.*814T>G (n.*814T>G) | |
| 1 | g.201077096A>G | CA344120522 | CACNA1S | c.1651T>C (p.Ser551Pro) c.*814T>C (n.*814T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201077096A>T | CA344120520 | CACNA1S | c.1651T>A (p.Ser551Thr) c.*814T>A (n.*814T>A) | |
| 1 | g.201077097T>A | CA422689539 | CACNA1S | c.1650A>T (p.Ala550=) c.*813A>T (n.*813A>T) | |
| 1 | g.201077097T>C | CA422689540 | CACNA1S | c.1650A>G (p.Ala550=) c.*813A>G (n.*813A>G) | |
| 1 | g.201077097T>G | CA422689541 | CACNA1S | c.1650A>C (p.Ala550=) c.*813A>C (n.*813A>C) | |
| 1 | g.201077098G>A | CA344120527 | CACNA1S | c.1649C>T (p.Ala550Val) c.*812C>T (n.*812C>T) | |
| 1 | g.201077098G>C | CA344120529 | CACNA1S | c.1649C>G (p.Ala550Gly) c.*812C>G (n.*812C>G) | |
| 1 | g.201077098G>T | CA344120548 | CACNA1S | c.1649C>A (p.Ala550Glu) c.*812C>A (n.*812C>A) | |
| 1 | g.201077099C>A | CA344120555 | CACNA1S | c.1648G>T (p.Ala550Ser) c.*811G>T (n.*811G>T) | |
| 1 | g.201077099C>G | CA344120558 | CACNA1S | c.1648G>C (p.Ala550Pro) c.*811G>C (n.*811G>C) | |
| 1 | g.201077099C>T | CA344120565 | CACNA1S | c.1648G>A (p.Ala550Thr) c.*811G>A (n.*811G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201077100C>A | CA422689546 | CACNA1S | c.1647G>T (p.Val549=) c.*810G>T (n.*810G>T) | |
| 1 | g.201077100C>G | CA422689547 | CACNA1S | c.1647G>C (p.Val549=) c.*810G>C (n.*810G>C) | |
| 1 | g.201077100C>T | CA422689548 | CACNA1S | c.1647G>A (p.Val549=) c.*810G>A (n.*810G>A) | |
| 1 | g.201077101A>C | CA344120575 | CACNA1S | c.1646T>G (p.Val549Gly) c.*809T>G (n.*809T>G) | |
| 1 | g.201077101A>G | CA344120578 | CACNA1S | c.1646T>C (p.Val549Ala) c.*809T>C (n.*809T>C) | |
| 1 | g.201077101A>T | CA344120580 | CACNA1S | c.1646T>A (p.Val549Glu) c.*809T>A (n.*809T>A) | |
| 1 | g.201077102C>A | CA344120585 | CACNA1S | c.1645G>T (p.Val549Leu) c.*808G>T (n.*808G>T) | |
| 1 | g.201077102C>G | CA344120586 | CACNA1S | c.1645G>C (p.Val549Leu) c.*808G>C (n.*808G>C) | |
| 1 | g.201077102C>T | CA344120587 | CACNA1S | c.1645G>A (p.Val549Met) c.*808G>A (n.*808G>A) | gnomAD v4 |
| 1 | g.201077103C>A | CA422689551 | CACNA1S | c.1644G>T (p.Leu548=) c.*807G>T (n.*807G>T) | dbSNP gnomAD v2 |
| 1 | g.201077103C= | CA1219584810 | CACNA1S | c.1644G= (p.Leu548=) c.*807G= (n.*807G=) | |
| 1 | g.201077103C>G | CA422689553 | CACNA1S | c.1644G>C (p.Leu548=) c.*807G>C (n.*807G>C) | |
| 1 | g.201077103C>T | CA422689552 | CACNA1S | c.1644G>A (p.Leu548=) c.*807G>A (n.*807G>A) | |
| 1 | g.201077104A>C | CA344120596 | CACNA1S | c.1643T>G (p.Leu548Arg) c.*806T>G (n.*806T>G) | |
| 1 | g.201077104A>G | CA344120599 | CACNA1S | c.1643T>C (p.Leu548Pro) c.*806T>C (n.*806T>C) | gnomAD v4 |
| 1 | g.201077104A>T | CA344120589 | CACNA1S | c.1643T>A (p.Leu548Gln) c.*806T>A (n.*806T>A) | |
| 1 | g.201077105G>A | CA35977719 | CACNA1S | c.1642C>T (p.Leu548=) c.*805C>T (n.*805C>T) | ClinVar dbSNP |
| 1 | g.201077105G>C | CA344120603 | CACNA1S | c.1642C>G (p.Leu548Val) c.*805C>G (n.*805C>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201077105G= | CA1219584811 | CACNA1S | c.1642C= (p.Leu548=) c.*805C= (n.*805C=) | |
| 1 | g.201077105G>T | CA344120607 | CACNA1S | c.1642C>A (p.Leu548Met) c.*805C>A (n.*805C>A) | gnomAD v4 |
| 1 | g.201077106G>A | CA422689557 | CACNA1S | c.1641C>T (p.Asn547=) c.*804C>T (n.*804C>T) | dbSNP |
| 1 | g.201077106G>C | CA344120612 | CACNA1S | c.1641C>G (p.Asn547Lys) c.*804C>G (n.*804C>G) | |
| 1 | g.201077106G= | CA1219584812 | CACNA1S | c.1641C= (p.Asn547=) c.*804C= (n.*804C=) | |
| 1 | g.201077106G>T | CA344120616 | CACNA1S | c.1641C>A (p.Asn547Lys) c.*804C>A (n.*804C>A) | |
| 1 | g.201077107T>A | CA344120619 | CACNA1S | c.1640A>T (p.Asn547Ile) c.*803A>T (n.*803A>T) | |
| 1 | g.201077107T>C | CA344120621 | CACNA1S | c.1640A>G (p.Asn547Ser) c.*803A>G (n.*803A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201077107T>G | CA344120623 | CACNA1S | c.1640A>C (p.Asn547Thr) c.*803A>C (n.*803A>C) | |
| 1 | g.201077107T= | CA1219584813 | CACNA1S | c.1640A= (p.Asn547=) c.*803A= (n.*803A=) | |
| 1 | g.201077108T>A | CA344120628 | CACNA1S | c.1639A>T (p.Asn547Tyr) c.*802A>T (n.*802A>T) | |
| 1 | g.201077108T>C | CA344120641 | CACNA1S | c.1639A>G (p.Asn547Asp) c.*802A>G (n.*802A>G) | |
| 1 | g.201077108T>G | CA344120643 | CACNA1S | c.1639A>C (p.Asn547His) c.*802A>C (n.*802A>C) | |
| 1 | g.201077109G>A | CA422689559 | CACNA1S | c.1638C>T (p.Ser546=) c.*801C>T (n.*801C>T) | |
| 1 | g.201077109G>C | CA344120650 | CACNA1S | c.1638C>G (p.Ser546Arg) c.*801C>G (n.*801C>G) | |
| 1 | g.201077109G>T | CA344120651 | CACNA1S | c.1638C>A (p.Ser546Arg) c.*801C>A (n.*801C>A) | |
| 1 | g.201077110C>A | CA344120653 | CACNA1S | c.1637G>T (p.Ser546Ile) c.*800G>T (n.*800G>T) | |
| 1 | g.201077110C= | CA1143934751 | CACNA1S | c.1637G= (p.Ser546=) c.*800G= (n.*800G=) | |
| 1 | g.201077110C>G | CA344120666 | CACNA1S | c.1637G>C (p.Ser546Thr) c.*800G>C (n.*800G>C) | |
| 1 | g.201077110C>T | CA078494 | CACNA1S | c.1637G>A (p.Ser546Asn) c.*800G>A (n.*800G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077111T>A | CA344120667 | CACNA1S | c.1636A>T (p.Ser546Cys) c.*799A>T (n.*799A>T) | |
| 1 | g.201077111T>C | CA344120668 | CACNA1S | c.1636A>G (p.Ser546Gly) c.*799A>G (n.*799A>G) | |
| 1 | g.201077111T>G | CA344120673 | CACNA1S | c.1636A>C (p.Ser546Arg) c.*799A>C (n.*799A>C) | |
| 1 | g.201077112C>A | CA422689565 | CACNA1S | c.1635G>T (p.Leu545=) c.*798G>T (n.*798G>T) | |
| 1 | g.201077112C>G | CA422689566 | CACNA1S | c.1635G>C (p.Leu545=) c.*798G>C (n.*798G>C) | |
| 1 | g.201077112C>T | CA422689567 | CACNA1S | c.1635G>A (p.Leu545=) c.*798G>A (n.*798G>A) | ClinVar |
| 1 | g.201077113A>C | CA344120679 | CACNA1S | c.1634T>G (p.Leu545Arg) c.*797T>G (n.*797T>G) | |
| 1 | g.201077113A>G | CA344120683 | CACNA1S | c.1634T>C (p.Leu545Pro) c.*797T>C (n.*797T>C) | gnomAD v4 |
| 1 | g.201077113A>T | CA344120689 | CACNA1S | c.1634T>A (p.Leu545Gln) c.*797T>A (n.*797T>A) | |
| 1 | g.201077114G>A | CA422689568 | CACNA1S | c.1633C>T (p.Leu545=) c.*796C>T (n.*796C>T) | gnomAD v4 COSMIC |
| 1 | g.201077114G>C | CA344120703 | CACNA1S | c.1633C>G (p.Leu545Val) c.*796C>G (n.*796C>G) | |
| 1 | g.201077114G>T | CA344120696 | CACNA1S | c.1633C>A (p.Leu545Met) c.*796C>A (n.*796C>A) | |
| 1 | g.201077115C>A | CA422689569 | CACNA1S | c.1632G>T (p.Ser544=) c.*795G>T (n.*795G>T) | |
| 1 | g.201077115C= | CA1219584814 | CACNA1S | c.1632G= (p.Ser544=) c.*795G= (n.*795G=) | |
| 1 | g.201077115C>G | CA422689570 | CACNA1S | c.1632G>C (p.Ser544=) c.*795G>C (n.*795G>C) | |
| 1 | g.201077115C>T | CA35977737 | CACNA1S | c.1632G>A (p.Ser544=) c.*795G>A (n.*795G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077116G>A | CA344120709 | CACNA1S | c.1631C>T (p.Ser544Leu) c.*794C>T (n.*794C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201077116G>C | CA344120710 | CACNA1S | c.1631C>G (p.Ser544Trp) c.*794C>G (n.*794C>G) | |
| 1 | g.201077116G= | CA1219584815 | CACNA1S | c.1631C= (p.Ser544=) c.*794C= (n.*794C=) | |
| 1 | g.201077116G>T | CA344120721 | CACNA1S | c.1631C>A (p.Ser544Ter) c.*794C>A (n.*794C>A) | dbSNP |
| 1 | g.201077117A= | CA1219584816 | CACNA1S | c.1630T= (p.Ser544=) c.*793T= (n.*793T=) | |
| 1 | g.201077117A>C | CA344120724 | CACNA1S | c.1630T>G (p.Ser544Ala) c.*793T>G (n.*793T>G) | |
| 1 | g.201077117A>G | CA344120740 | CACNA1S | c.1630T>C (p.Ser544Pro) c.*793T>C (n.*793T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201077117A>T | CA344120749 | CACNA1S | c.1630T>A (p.Ser544Thr) c.*793T>A (n.*793T>A) | |
| 1 | g.201077118C>A | CA078489 | CACNA1S | c.1629G>T (p.Thr543=) c.*792G>T (n.*792G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077118C= | CA1141964523 | CACNA1S | c.1629G= (p.Thr543=) c.*792G= (n.*792G=) | |
| 1 | g.201077118C>G | CA422689572 | CACNA1S | c.1629G>C (p.Thr543=) c.*792G>C (n.*792G>C) | |
| 1 | g.201077118C>T | CA078487 | CACNA1S | c.1629G>A (p.Thr543=) c.*792G>A (n.*792G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077119G>A | CA078485 | CACNA1S | c.1628C>T (p.Thr543Met) c.*791C>T (n.*791C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201077119G>C | CA344120772 | CACNA1S | c.1628C>G (p.Thr543Arg) c.*791C>G (n.*791C>G) | gnomAD v4 |
| 1 | g.201077119G= | CA1219584817 | CACNA1S | c.1628C= (p.Thr543=) c.*791C= (n.*791C=) | |
| 1 | g.201077119G>T | CA344120763 | CACNA1S | c.1628C>A (p.Thr543Lys) c.*791C>A (n.*791C>A) | gnomAD v4 |
| 1 | g.201077120T>A | CA344120776 | CACNA1S | c.1627A>T (p.Thr543Ser) c.*790A>T (n.*790A>T) | |
| 1 | g.201077120T>C | CA344120778 | CACNA1S | c.1627A>G (p.Thr543Ala) c.*790A>G (n.*790A>G) | |
| 1 | g.201077120T>G | CA344120777 | CACNA1S | c.1627A>C (p.Thr543Pro) c.*790A>C (n.*790A>C) |