| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201077968C>A | CA078360 | CACNA1S | c.1530G>T (p.Glu510Asp) c.*693G>T (n.*693G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077968C= | CA1219585175 | CACNA1S | c.1530G= (p.Glu510=) c.*693G= (n.*693G=) | |
| 1 | g.201077968C>G | CA344121578 | CACNA1S | c.1530G>C (p.Glu510Asp) c.*693G>C (n.*693G>C) | |
| 1 | g.201077968C>T | CA422815046 | CACNA1S | c.1530G>A (p.Glu510=) c.*693G>A (n.*693G>A) | COSMIC |
| 1 | g.201077969T>A | CA344121590 | CACNA1S | c.1529A>T (p.Glu510Val) c.*692A>T (n.*692A>T) | |
| 1 | g.201077969T>C | CA344121598 | CACNA1S | c.1529A>G (p.Glu510Gly) c.*692A>G (n.*692A>G) | |
| 1 | g.201077969T>G | CA344121600 | CACNA1S | c.1529A>C (p.Glu510Ala) c.*692A>C (n.*692A>C) | |
| 1 | g.201077970C>A | CA344121603 | CACNA1S | c.1528G>T (p.Glu510Ter) c.*691G>T (n.*691G>T) | dbSNP |
| 1 | g.201077970C= | CA1219585176 | CACNA1S | c.1528G= (p.Glu510=) c.*691G= (n.*691G=) | |
| 1 | g.201077970C>G | CA344121601 | CACNA1S | c.1528G>C (p.Glu510Gln) c.*691G>C (n.*691G>C) | |
| 1 | g.201077970C>T | CA344121602 | CACNA1S | c.1528G>A (p.Glu510Lys) c.*691G>A (n.*691G>A) | |
| 1 | g.201077971C>A | CA422815056 | CACNA1S | c.1527G>T (p.Leu509=) c.*690G>T (n.*690G>T) | COSMIC |
| 1 | g.201077971C>G | CA422815054 | CACNA1S | c.1527G>C (p.Leu509=) c.*690G>C (n.*690G>C) | |
| 1 | g.201077971C>T | CA422815055 | CACNA1S | c.1527G>A (p.Leu509=) c.*690G>A (n.*690G>A) | |
| 1 | g.201077972A= | CA1143691683 | CACNA1S | c.1526T= (p.Leu509=) c.*689T= (n.*689T=) | |
| 1 | g.201077972A>C | CA344121606 | CACNA1S | c.1526T>G (p.Leu509Arg) c.*689T>G (n.*689T>G) | |
| 1 | g.201077972A>G | CA078357 | CACNA1S | c.1526T>C (p.Leu509Pro) c.*689T>C (n.*689T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077972A>T | CA344121612 | CACNA1S | c.1526T>A (p.Leu509Gln) c.*689T>A (n.*689T>A) | |
| 1 | g.201077973G>A | CA078355 | CACNA1S | c.1525C>T (p.Leu509=) c.*688C>T (n.*688C>T) | dbSNP ExAC gnomAD v2 |
| 1 | g.201077973G>C | CA344121627 | CACNA1S | c.1525C>G (p.Leu509Val) c.*688C>G (n.*688C>G) | |
| 1 | g.201077973G= | CA1148418493 | CACNA1S | c.1525C= (p.Leu509=) c.*688C= (n.*688C=) | |
| 1 | g.201077973G>T | CA344121633 | CACNA1S | c.1525C>A (p.Leu509Met) c.*688C>A (n.*688C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077974G>A | CA422815062 | CACNA1S | c.1524C>T (p.Ile508=) c.*687C>T (n.*687C>T) | |
| 1 | g.201077974G>C | CA344121640 | CACNA1S | c.1524C>G (p.Ile508Met) c.*687C>G (n.*687C>G) | |
| 1 | g.201077974G>T | CA422815061 | CACNA1S | c.1524C>A (p.Ile508=) c.*687C>A (n.*687C>A) | |
| 1 | g.201077975A>C | CA344121659 | CACNA1S | c.1523T>G (p.Ile508Ser) c.*686T>G (n.*686T>G) | |
| 1 | g.201077975A>G | CA344121646 | CACNA1S | c.1523T>C (p.Ile508Thr) c.*686T>C (n.*686T>C) | |
| 1 | g.201077975A>T | CA344121654 | CACNA1S | c.1523T>A (p.Ile508Asn) c.*686T>A (n.*686T>A) | |
| 1 | g.201077976T>A | CA344121664 | CACNA1S | c.1522A>T (p.Ile508Phe) c.*685A>T (n.*685A>T) | |
| 1 | g.201077976T>C | CA344121674 | CACNA1S | c.1522A>G (p.Ile508Val) c.*685A>G (n.*685A>G) | gnomAD v4 |
| 1 | g.201077976T>G | CA344121678 | CACNA1S | c.1522A>C (p.Ile508Leu) c.*685A>C (n.*685A>C) | |
| 1 | g.201077977A>C | CA422815066 | CACNA1S | c.1521T>G (p.Gly507=) c.*684T>G (n.*684T>G) | |
| 1 | g.201077977A>G | CA422815065 | CACNA1S | c.1521T>C (p.Gly507=) c.*684T>C (n.*684T>C) | |
| 1 | g.201077977A>T | CA422815067 | CACNA1S | c.1521T>A (p.Gly507=) c.*684T>A (n.*684T>A) | |
| 1 | g.201077978C>A | CA344121700 | CACNA1S | c.1520G>T (p.Gly507Val) c.*683G>T (n.*683G>T) | |
| 1 | g.201077978C>G | CA344121696 | CACNA1S | c.1520G>C (p.Gly507Ala) c.*683G>C (n.*683G>C) | |
| 1 | g.201077978C>T | CA344121690 | CACNA1S | c.1520G>A (p.Gly507Asp) c.*683G>A (n.*683G>A) | gnomAD v4 |
| 1 | g.201077979C>A | CA344121708 | CACNA1S | c.1519G>T (p.Gly507Cys) c.*682G>T (n.*682G>T) | |
| 1 | g.201077979C= | CA1146329158 | CACNA1S | c.1519G= (p.Gly507=) c.*682G= (n.*682G=) | |
| 1 | g.201077979C>G | CA344121710 | CACNA1S | c.1519G>C (p.Gly507Arg) c.*682G>C (n.*682G>C) | |
| 1 | g.201077979C>T | CA078287 | CACNA1S | c.1519G>A (p.Gly507Ser) c.*682G>A (n.*682G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201077980G>A | CA078285 | CACNA1S | c.1518C>T (p.Ser506=) c.*681C>T (n.*681C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.201077980G>C | CA344121732 | CACNA1S | c.1518C>G (p.Ser506Arg) c.*681C>G (n.*681C>G) | |
| 1 | g.201077980G= | CA1219585177 | CACNA1S | c.1518C= (p.Ser506=) c.*681C= (n.*681C=) | |
| 1 | g.201077980G>T | CA344121738 | CACNA1S | c.1518C>A (p.Ser506Arg) c.*681C>A (n.*681C>A) | |
| 1 | g.201077981C>A | CA344121750 | CACNA1S | c.1517G>T (p.Ser506Ile) c.*680G>T (n.*680G>T) | COSMIC |
| 1 | g.201077981C= | CA1219585178 | CACNA1S | c.1517G= (p.Ser506=) c.*680G= (n.*680G=) | |
| 1 | g.201077981C>G | CA344121741 | CACNA1S | c.1517G>C (p.Ser506Thr) c.*680G>C (n.*680G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201077981C>T | CA344121744 | CACNA1S | c.1517G>A (p.Ser506Asn) c.*680G>A (n.*680G>A) | gnomAD v4 |
| 1 | g.201077982T>A | CA344121757 | CACNA1S | c.1516A>T (p.Ser506Cys) c.*679A>T (n.*679A>T) | |
| 1 | g.201077982T>C | CA344121761 | CACNA1S | c.1516A>G (p.Ser506Gly) c.*679A>G (n.*679A>G) | |
| 1 | g.201077982T>G | CA344121770 | CACNA1S | c.1516A>C (p.Ser506Arg) c.*679A>C (n.*679A>C) | |
| 1 | g.201077983A= | CA1140167190 | CACNA1S | c.1515T= (p.Cys505=) c.*678T= (n.*678T=) | |
| 1 | g.201077983A>C | CA344121782 | CACNA1S | c.1515T>G (p.Cys505Trp) c.*678T>G (n.*678T>G) | |
| 1 | g.201077983A>G | CA078284 | CACNA1S | c.1515T>C (p.Cys505=) c.*678T>C (n.*678T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077983A>T | CA344121796 | CACNA1S | c.1515T>A (p.Cys505Ter) c.*678T>A (n.*678T>A) | |
| 1 | g.201077984C>A | CA344121801 | CACNA1S | c.1514G>T (p.Cys505Phe) c.*677G>T (n.*677G>T) | |
| 1 | g.201077984C= | CA1219585179 | CACNA1S | c.1514G= (p.Cys505=) c.*677G= (n.*677G=) | |
| 1 | g.201077984C>G | CA344121803 | CACNA1S | c.1514G>C (p.Cys505Ser) c.*677G>C (n.*677G>C) | |
| 1 | g.201077984C>T | CA344121806 | CACNA1S | c.1514G>A (p.Cys505Tyr) c.*677G>A (n.*677G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201077984_201077985insTGCTTCGTGGTGTGCAGCGGTATCCTGGAGATCCTGCTGC | CA2649763421 | CACNA1S | c.1514_1515insCAGCAGGATCTCCAGGATACCGCTGCACACCACGAAGCAG (p.Gly507ArgfsTer13) c.*677_*678insCAGCAGGATCTCCAGGATACCGCTGCACACCACGAAGCAG (n.*677_*678insCAGCAGGATCTCCAGGATACCGCTGCACACCACGAAGCAG) | gnomAD v4 |
| 1 | g.201077985A>C | CA344121818 | CACNA1S | c.1513T>G (p.Cys505Gly) c.*676T>G (n.*676T>G) | |
| 1 | g.201077985A>G | CA344121820 | CACNA1S | c.1513T>C (p.Cys505Arg) c.*676T>C (n.*676T>C) | |
| 1 | g.201077985A>T | CA344121821 | CACNA1S | c.1513T>A (p.Cys505Ser) c.*676T>A (n.*676T>A) | |
| 1 | g.201077986C>A | CA422815082 | CACNA1S | c.1512G>T (p.Val504=) c.*675G>T (n.*675G>T) | |
| 1 | g.201077986C= | CA1219585180 | CACNA1S | c.1512G= (p.Val504=) c.*675G= (n.*675G=) | |
| 1 | g.201077986C>G | CA422815083 | CACNA1S | c.1512G>C (p.Val504=) c.*675G>C (n.*675G>C) | |
| 1 | g.201077986C>T | CA078283 | CACNA1S | c.1512G>A (p.Val504=) c.*675G>A (n.*675G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201077987A= | CA1219585181 | CACNA1S | c.1511T= (p.Val504=) c.*674T= (n.*674T=) | |
| 1 | g.201077987A>C | CA344121828 | CACNA1S | c.1511T>G (p.Val504Gly) c.*674T>G (n.*674T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077987A>G | CA344121835 | CACNA1S | c.1511T>C (p.Val504Ala) c.*674T>C (n.*674T>C) | |
| 1 | g.201077987A>T | CA344121832 | CACNA1S | c.1511T>A (p.Val504Glu) c.*674T>A (n.*674T>A) | |
| 1 | g.201077988C>A | CA078281 | CACNA1S | c.1510G>T (p.Val504Leu) c.*673G>T (n.*673G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201077988C= | CA1219585182 | CACNA1S | c.1510G= (p.Val504=) c.*673G= (n.*673G=) | |
| 1 | g.201077988C>G | CA344121862 | CACNA1S | c.1510G>C (p.Val504Leu) c.*673G>C (n.*673G>C) | |
| 1 | g.201077988C>T | CA344121869 | CACNA1S | c.1510G>A (p.Val504Met) c.*673G>A (n.*673G>A) | |
| 1 | g.201077989C>A | CA422815087 | CACNA1S | c.1509G>T (p.Val503=) c.*672G>T (n.*672G>T) | COSMIC |
| 1 | g.201077989C= | CA1219585183 | CACNA1S | c.1509G= (p.Val503=) c.*672G= (n.*672G=) | |
| 1 | g.201077989C>G | CA422815086 | CACNA1S | c.1509G>C (p.Val503=) c.*672G>C (n.*672G>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201077989C>T | CA422815088 | CACNA1S | c.1509G>A (p.Val503=) c.*672G>A (n.*672G>A) | gnomAD v4 |
| 1 | g.201077990A= | CA1219585184 | CACNA1S | c.1508T= (p.Val503=) c.*671T= (n.*671T=) | |
| 1 | g.201077990A>C | CA344121872 | CACNA1S | c.1508T>G (p.Val503Gly) c.*671T>G (n.*671T>G) | |
| 1 | g.201077990A>G | CA078280 | CACNA1S | c.1508T>C (p.Val503Ala) c.*671T>C (n.*671T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201077990A>T | CA344121876 | CACNA1S | c.1508T>A (p.Val503Glu) c.*671T>A (n.*671T>A) | |
| 1 | g.201077991C>A | CA344121881 | CACNA1S | c.1507G>T (p.Val503Leu) c.*670G>T (n.*670G>T) | |
| 1 | g.201077991C= | CA1141731300 | CACNA1S | c.1507G= (p.Val503=) c.*670G= (n.*670G=) | |
| 1 | g.201077991C>G | CA344121893 | CACNA1S | c.1507G>C (p.Val503Leu) c.*670G>C (n.*670G>C) | gnomAD v4 |
| 1 | g.201077991C>T | CA078278 | CACNA1S | c.1507G>A (p.Val503Met) c.*670G>A (n.*670G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077992G>A | CA078277 | CACNA1S | c.1506C>T (p.Phe502=) c.*669C>T (n.*669C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201077992G>C | CA344121907 | CACNA1S | c.1506C>G (p.Phe502Leu) c.*669C>G (n.*669C>G) | |
| 1 | g.201077992G= | CA1141828253 | CACNA1S | c.1506C= (p.Phe502=) c.*669C= (n.*669C=) | |
| 1 | g.201077992G>T | CA344121927 | CACNA1S | c.1506C>A (p.Phe502Leu) c.*669C>A (n.*669C>A) | |
| 1 | g.201077993A>C | CA344121948 | CACNA1S | c.1505T>G (p.Phe502Cys) c.*668T>G (n.*668T>G) | gnomAD v4 |
| 1 | g.201077993A>G | CA344121937 | CACNA1S | c.1505T>C (p.Phe502Ser) c.*668T>C (n.*668T>C) | gnomAD v4 |
| 1 | g.201077993A>T | CA344121945 | CACNA1S | c.1505T>A (p.Phe502Tyr) c.*668T>A (n.*668T>A) | |
| 1 | g.201077994A>C | CA344121950 | CACNA1S | c.1504T>G (p.Phe502Val) c.*667T>G (n.*667T>G) | |
| 1 | g.201077994A>G | CA344121951 | CACNA1S | c.1504T>C (p.Phe502Leu) c.*667T>C (n.*667T>C) | |
| 1 | g.201077994A>T | CA344121955 | CACNA1S | c.1504T>A (p.Phe502Ile) c.*667T>A (n.*667T>A) | |
| 1 | g.201077995G>A | CA078275 | CACNA1S | c.1503C>T (p.Cys501=) c.*666C>T (n.*666C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201077995G>C | CA344121958 | CACNA1S | c.1503C>G (p.Cys501Trp) c.*666C>G (n.*666C>G) | |
| 1 | g.201077995G= | CA1219585185 | CACNA1S | c.1503C= (p.Cys501=) c.*666C= (n.*666C=) | |
| 1 | g.201077995G>T | CA344121959 | CACNA1S | c.1503C>A (p.Cys501Ter) c.*666C>A (n.*666C>A) | ClinVar dbSNP |
| 1 | g.201077996C>A | CA078273 | CACNA1S | c.1502G>T (p.Cys501Phe) c.*665G>T (n.*665G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077996C= | CA1219585186 | CACNA1S | c.1502G= (p.Cys501=) c.*665G= (n.*665G=) | |
| 1 | g.201077996C>G | CA344121962 | CACNA1S | c.1502G>C (p.Cys501Ser) c.*665G>C (n.*665G>C) | |
| 1 | g.201077996C>T | CA344121965 | CACNA1S | c.1502G>A (p.Cys501Tyr) c.*665G>A (n.*665G>A) | |
| 1 | g.201077997A= | CA1219585187 | CACNA1S | c.1501T= (p.Cys501=) c.*664T= (n.*664T=) | |
| 1 | g.201077997A>C | CA344121967 | CACNA1S | c.1501T>G (p.Cys501Gly) c.*664T>G (n.*664T>G) | |
| 1 | g.201077997A>G | CA344121968 | CACNA1S | c.1501T>C (p.Cys501Arg) c.*664T>C (n.*664T>C) | dbSNP |
| 1 | g.201077997A>T | CA344121970 | CACNA1S | c.1501T>A (p.Cys501Ser) c.*664T>A (n.*664T>A) | |
| 1 | g.201077998G>A | CA078272 | CACNA1S | c.1500C>T (p.Asp500=) c.*663C>T (n.*663C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077998G>C | CA344121983 | CACNA1S | c.1500C>G (p.Asp500Glu) c.*663C>G (n.*663C>G) | dbSNP gnomAD v4 |
| 1 | g.201077998G= | CA1219585188 | CACNA1S | c.1500C= (p.Asp500=) c.*663C= (n.*663C=) | |
| 1 | g.201077998G>T | CA344121974 | CACNA1S | c.1500C>A (p.Asp500Glu) c.*663C>A (n.*663C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201077999T>A | CA344121984 | CACNA1S | c.1499A>T (p.Asp500Val) c.*662A>T (n.*662A>T) | |
| 1 | g.201077999T>C | CA344121994 | CACNA1S | c.1499A>G (p.Asp500Gly) c.*662A>G (n.*662A>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201077999T>G | CA344121989 | CACNA1S | c.1499A>C (p.Asp500Ala) c.*662A>C (n.*662A>C) | |
| 1 | g.201077999T= | CA1219585189 | CACNA1S | c.1499A= (p.Asp500=) c.*662A= (n.*662A=) | |
| 1 | g.201078000C>A | CA344121995 | CACNA1S | c.1498G>T (p.Asp500Tyr) c.*661G>T (n.*661G>T) | gnomAD v4 |
| 1 | g.201078000C= | CA1219585190 | CACNA1S | c.1498G= (p.Asp500=) c.*661G= (n.*661G=) | |
| 1 | g.201078000C>G | CA344121996 | CACNA1S | c.1498G>C (p.Asp500His) c.*661G>C (n.*661G>C) | |
| 1 | g.201078000C>T | CA344121997 | CACNA1S | c.1498G>A (p.Asp500Asn) c.*661G>A (n.*661G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201078001G>A | CA422815101 | CACNA1S | c.1497C>T (p.Phe499=) c.*660C>T (n.*660C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201078001G>C | CA344122008 | CACNA1S | c.1497C>G (p.Phe499Leu) c.*660C>G (n.*660C>G) | |
| 1 | g.201078001G= | CA1219585191 | CACNA1S | c.1497C= (p.Phe499=) c.*660C= (n.*660C=) | |
| 1 | g.201078001G>T | CA344122010 | CACNA1S | c.1497C>A (p.Phe499Leu) c.*660C>A (n.*660C>A) | |
| 1 | g.201078002A>C | CA344122013 | CACNA1S | c.1496T>G (p.Phe499Cys) c.*659T>G (n.*659T>G) | |
| 1 | g.201078002A>G | CA344122015 | CACNA1S | c.1496T>C (p.Phe499Ser) c.*659T>C (n.*659T>C) | |
| 1 | g.201078002A>T | CA344122019 | CACNA1S | c.1496T>A (p.Phe499Tyr) c.*659T>A (n.*659T>A) | |
| 1 | g.201078003A>C | CA344122022 | CACNA1S | c.1495T>G (p.Phe499Val) c.*658T>G (n.*658T>G) | |
| 1 | g.201078003A>G | CA344122028 | CACNA1S | c.1495T>C (p.Phe499Leu) c.*658T>C (n.*658T>C) | |
| 1 | g.201078003A>T | CA344122025 | CACNA1S | c.1495T>A (p.Phe499Ile) c.*658T>A (n.*658T>A) | |
| 1 | g.201078004G>A | CA078270 | CACNA1S | c.1494C>T (p.Arg498=) c.*657C>T (n.*657C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201078004G>C | CA422815106 | CACNA1S | c.1494C>G (p.Arg498=) c.*657C>G (n.*657C>G) | |
| 1 | g.201078004G= | CA1219585192 | CACNA1S | c.1494C= (p.Arg498=) c.*657C= (n.*657C=) | |
| 1 | g.201078004G>T | CA422815107 | CACNA1S | c.1494C>A (p.Arg498=) c.*657C>A (n.*657C>A) | |
| 1 | g.201078005C>A | CA078268 | CACNA1S | c.1493G>T (p.Arg498Leu) c.*656G>T (n.*656G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201078005C= | CA1142374561 | CACNA1S | c.1493G= (p.Arg498=) c.*656G= (n.*656G=) | |
| 1 | g.201078005C>G | CA344122031 | CACNA1S | c.1493G>C (p.Arg498Pro) c.*656G>C (n.*656G>C) | |
| 1 | g.201078005C>T | CA078266 | CACNA1S | c.1493G>A (p.Arg498His) c.*656G>A (n.*656G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201078006G>A | CA078265 | CACNA1S | c.1492C>T (p.Arg498Cys) c.*655C>T (n.*655C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201078006G>C | CA344122034 | CACNA1S | c.1492C>G (p.Arg498Gly) c.*655C>G (n.*655C>G) | |
| 1 | g.201078006G= | CA1144623807 | CACNA1S | c.1492C= (p.Arg498=) c.*655C= (n.*655C=) | |
| 1 | g.201078006G>T | CA35979114 | CACNA1S | c.1492C>A (p.Arg498Ser) c.*655C>A (n.*655C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201078007G>A | CA078263 | CACNA1S | c.1491C>T (p.Asn497=) c.*654C>T (n.*654C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201078007G>C | CA344122044 | CACNA1S | c.1491C>G (p.Asn497Lys) c.*654C>G (n.*654C>G) | gnomAD v4 |
| 1 | g.201078007G= | CA1140449887 | CACNA1S | c.1491C= (p.Asn497=) c.*654C= (n.*654C=) | |
| 1 | g.201078007G>T | CA344122049 | CACNA1S | c.1491C>A (p.Asn497Lys) c.*654C>A (n.*654C>A) | |
| 1 | g.201078008T>A | CA344122050 | CACNA1S | c.1490A>T (p.Asn497Ile) c.*653A>T (n.*653A>T) | |
| 1 | g.201078008T>C | CA344122051 | CACNA1S | c.1490A>G (p.Asn497Ser) c.*653A>G (n.*653A>G) | |
| 1 | g.201078008T>G | CA344122053 | CACNA1S | c.1490A>C (p.Asn497Thr) c.*653A>C (n.*653A>C) | |
| 1 | g.201078008_201078009dup | CA2649763423 | CACNA1S | c.1489_1490dup (p.Asn497LysfsTer24) c.*652_*653dup (n.*652_*653dup) | gnomAD v4 |
| 1 | g.201078009T>A | CA078260 | CACNA1S | c.1489A>T (p.Asn497Tyr) c.*652A>T (n.*652A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201078009T>C | CA344122071 | CACNA1S | c.1489A>G (p.Asn497Asp) c.*652A>G (n.*652A>G) | |
| 1 | g.201078009T>G | CA344122078 | CACNA1S | c.1489A>C (p.Asn497His) c.*652A>C (n.*652A>C) | |
| 1 | g.201078009T= | CA1219585193 | CACNA1S | c.1489A= (p.Asn497=) c.*652A= (n.*652A=) | |
| 1 | g.201078010G>A | CA422815113 | CACNA1S | c.1488C>T (p.Phe496=) c.*651C>T (n.*651C>T) | COSMIC |
| 1 | g.201078010G>C | CA344122091 | CACNA1S | c.1488C>G (p.Phe496Leu) c.*651C>G (n.*651C>G) | |
| 1 | g.201078010G>T | CA344122094 | CACNA1S | c.1488C>A (p.Phe496Leu) c.*651C>A (n.*651C>A) | |
| 1 | g.201078011A>C | CA344122098 | CACNA1S | c.1487T>G (p.Phe496Cys) c.*650T>G (n.*650T>G) | |
| 1 | g.201078011A>G | CA344122095 | CACNA1S | c.1487T>C (p.Phe496Ser) c.*650T>C (n.*650T>C) | |
| 1 | g.201078011A>T | CA344122096 | CACNA1S | c.1487T>A (p.Phe496Tyr) c.*650T>A (n.*650T>A) | |
| 1 | g.201078012del | CA2649763424 | CACNA1S | c.1487del (p.Phe496SerfsTer24) c.*650del (n.*650del) | gnomAD v4 |
| 1 | g.201078012A>C | CA344122121 | CACNA1S | c.1486T>G (p.Phe496Val) c.*649T>G (n.*649T>G) | |
| 1 | g.201078012A>G | CA344122125 | CACNA1S | c.1486T>C (p.Phe496Leu) c.*649T>C (n.*649T>C) | |
| 1 | g.201078012A>T | CA344122129 | CACNA1S | c.1486T>A (p.Phe496Ile) c.*649T>A (n.*649T>A) | |
| 1 | g.201078013G>A | CA422815119 | CACNA1S | c.1485C>T (p.Ile495=) c.*648C>T (n.*648C>T) | |
| 1 | g.201078013G>C | CA344122133 | CACNA1S | c.1485C>G (p.Ile495Met) c.*648C>G (n.*648C>G) | gnomAD v4 |
| 1 | g.201078013G>T | CA422815118 | CACNA1S | c.1485C>A (p.Ile495=) c.*648C>A (n.*648C>A) | |
| 1 | g.201078014A>C | CA344122139 | CACNA1S | c.1484T>G (p.Ile495Ser) c.*647T>G (n.*647T>G) | |
| 1 | g.201078014A>G | CA344122145 | CACNA1S | c.1484T>C (p.Ile495Thr) c.*647T>C (n.*647T>C) | |
| 1 | g.201078014A>T | CA344122148 | CACNA1S | c.1484T>A (p.Ile495Asn) c.*647T>A (n.*647T>A) | |
| 1 | g.201078015T>A | CA344122153 | CACNA1S | c.1483A>T (p.Ile495Phe) c.*646A>T (n.*646A>T) | |
| 1 | g.201078015T>C | CA344122156 | CACNA1S | c.1483A>G (p.Ile495Val) c.*646A>G (n.*646A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201078015T>G | CA344122164 | CACNA1S | c.1483A>C (p.Ile495Leu) c.*646A>C (n.*646A>C) | ClinVar |
| 1 | g.201078015T= | CA1219585194 | CACNA1S | c.1483A= (p.Ile495=) c.*646A= (n.*646A=) | |
| 1 | g.201078016A>C | CA422815122 | CACNA1S | c.1482T>G (p.Ser494=) c.*645T>G (n.*645T>G) | |
| 1 | g.201078016A>G | CA422815123 | CACNA1S | c.1482T>C (p.Ser494=) c.*645T>C (n.*645T>C) | |
| 1 | g.201078016A>T | CA422815124 | CACNA1S | c.1482T>A (p.Ser494=) c.*645T>A (n.*645T>A) | |
| 1 | g.201078017G>A | CA344122167 | CACNA1S | c.1481C>T (p.Ser494Phe) c.*644C>T (n.*644C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201078017G>C | CA344122177 | CACNA1S | c.1481C>G (p.Ser494Cys) c.*644C>G (n.*644C>G) | |
| 1 | g.201078017G= | CA1219585196 | CACNA1S | c.1481C= (p.Ser494=) c.*644C= (n.*644C=) | |
| 1 | g.201078017G>T | CA344122181 | CACNA1S | c.1481C>A (p.Ser494Tyr) c.*644C>A (n.*644C>A) | |
| 1 | g.201078017_201078026delinsGACATGAAGT | CA1219585195 | CACNA1S | c.1472_1481delinsACTTCATGTC (p.Tyr491=) c.*635_*644delinsACTTCATGTC (n.*635_*644delinsACTTCATGTC) | |
| 1 | g.201078018A>C | CA344122188 | CACNA1S | c.1480T>G (p.Ser494Ala) c.*643T>G (n.*643T>G) | |
| 1 | g.201078018A>G | CA344122185 | CACNA1S | c.1480T>C (p.Ser494Pro) c.*643T>C (n.*643T>C) | |
| 1 | g.201078018A>T | CA344122187 | CACNA1S | c.1480T>A (p.Ser494Thr) c.*643T>A (n.*643T>A) | |
| 1 | g.201078020_201078028del | CA645372279 | CACNA1S | c.1472_1480del (p.Tyr491_Met493del) c.*635_*643del (n.*635_*643del) | dbSNP |
| 1 | g.201078019C>A | CA344122189 | CACNA1S | c.1479G>T (p.Met493Ile) c.*642G>T (n.*642G>T) | |
| 1 | g.201078019C= | CA1219585197 | CACNA1S | c.1479G= (p.Met493=) c.*642G= (n.*642G=) | |
| 1 | g.201078019C>G | CA344122193 | CACNA1S | c.1479G>C (p.Met493Ile) c.*642G>C (n.*642G>C) | |
| 1 | g.201078019C>T | CA344122196 | CACNA1S | c.1479G>A (p.Met493Ile) c.*642G>A (n.*642G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201078020A= | CA1219585198 | CACNA1S | c.1478T= (p.Met493=) c.*641T= (n.*641T=) | |
| 1 | g.201078020A>C | CA344122204 | CACNA1S | c.1478T>G (p.Met493Arg) c.*641T>G (n.*641T>G) | |
| 1 | g.201078020A>G | CA344122205 | CACNA1S | c.1478T>C (p.Met493Thr) c.*641T>C (n.*641T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201078020A>T | CA344122206 | CACNA1S | c.1478T>A (p.Met493Lys) c.*641T>A (n.*641T>A) | |
| 1 | g.201078021T>A | CA344122208 | CACNA1S | c.1477A>T (p.Met493Leu) c.*640A>T (n.*640A>T) | dbSNP gnomAD v4 |
| 1 | g.201078021T>C | CA344122212 | CACNA1S | c.1477A>G (p.Met493Val) c.*640A>G (n.*640A>G) | |
| 1 | g.201078021T>G | CA078258 | CACNA1S | c.1477A>C (p.Met493Leu) c.*640A>C (n.*640A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201078021T= | CA1219585199 | CACNA1S | c.1477A= (p.Met493=) c.*640A= (n.*640A=) | |
| 1 | g.201078022G>A | CA422815198 | CACNA1S | c.1476C>T (p.Phe492=) c.*639C>T (n.*639C>T) | gnomAD v4 |
| 1 | g.201078022G>C | CA344122216 | CACNA1S | c.1476C>G (p.Phe492Leu) c.*639C>G (n.*639C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201078022G= | CA1219585200 | CACNA1S | c.1476C= (p.Phe492=) c.*639C= (n.*639C=) | |
| 1 | g.201078022G>T | CA344122219 | CACNA1S | c.1476C>A (p.Phe492Leu) c.*639C>A (n.*639C>A) | |
| 1 | g.201078023A>C | CA344122220 | CACNA1S | c.1475T>G (p.Phe492Cys) c.*638T>G (n.*638T>G) | |
| 1 | g.201078023A>G | CA344122222 | CACNA1S | c.1475T>C (p.Phe492Ser) c.*638T>C (n.*638T>C) | |
| 1 | g.201078023A>T | CA344122221 | CACNA1S | c.1475T>A (p.Phe492Tyr) c.*638T>A (n.*638T>A) | |
| 1 | g.201078024A>C | CA344122226 | CACNA1S | c.1474T>G (p.Phe492Val) c.*637T>G (n.*637T>G) | |
| 1 | g.201078024A>G | CA344122233 | CACNA1S | c.1474T>C (p.Phe492Leu) c.*637T>C (n.*637T>C) | |
| 1 | g.201078024A>T | CA344122230 | CACNA1S | c.1474T>A (p.Phe492Ile) c.*637T>A (n.*637T>A) | |
| 1 | g.201078025G>A | CA422815203 | CACNA1S | c.1473C>T (p.Tyr491=) c.*636C>T (n.*636C>T) | COSMIC |
| 1 | g.201078025G>C | CA344122236 | CACNA1S | c.1473C>G (p.Tyr491Ter) c.*636C>G (n.*636C>G) | |
| 1 | g.201078025G>T | CA344122237 | CACNA1S | c.1473C>A (p.Tyr491Ter) c.*636C>A (n.*636C>A) | |
| 1 | g.201078026T>A | CA344122239 | CACNA1S | c.1472A>T (p.Tyr491Phe) c.*635A>T (n.*635A>T) | |
| 1 | g.201078026T>C | CA078257 | CACNA1S | c.1472A>G (p.Tyr491Cys) c.*635A>G (n.*635A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201078026T>G | CA344122244 | CACNA1S | c.1472A>C (p.Tyr491Ser) c.*635A>C (n.*635A>C) | |
| 1 | g.201078026T= | CA1219585201 | CACNA1S | c.1472A= (p.Tyr491=) c.*635A= (n.*635A=) | |
| 1 | g.201078027A>C | CA344122251 | CACNA1S | c.1471T>G (p.Tyr491Asp) c.*634T>G (n.*634T>G) | |
| 1 | g.201078027A>G | CA344122252 | CACNA1S | c.1471T>C (p.Tyr491His) c.*634T>C (n.*634T>C) | gnomAD v4 |
| 1 | g.201078027A>T | CA344122253 | CACNA1S | c.1471T>A (p.Tyr491Asn) c.*634T>A (n.*634T>A) | |
| 1 | g.201078028C>A | CA344122257 | CACNA1S | c.1470G>T (p.Gln490His) c.*633G>T (n.*633G>T) | |
| 1 | g.201078028C= | CA1143946627 | CACNA1S | c.1470G= (p.Gln490=) c.*633G= (n.*633G=) | |
| 1 | g.201078028C>G | CA344122260 | CACNA1S | c.1470G>C (p.Gln490His) c.*633G>C (n.*633G>C) | |
| 1 | g.201078028C>T | CA078256 | CACNA1S | c.1470G>A (p.Gln490=) c.*633G>A (n.*633G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201078029T>A | CA344122269 | CACNA1S | c.1469A>T (p.Gln490Leu) c.*632A>T (n.*632A>T) | |
| 1 | g.201078029T>C | CA344122283 | CACNA1S | c.1469A>G (p.Gln490Arg) c.*632A>G (n.*632A>G) | |
| 1 | g.201078029T>G | CA344122279 | CACNA1S | c.1469A>C (p.Gln490Pro) c.*632A>C (n.*632A>C) | |
| 1 | g.201078030G>A | CA344122285 | CACNA1S | c.1468C>T (p.Gln490Ter) c.*631C>T (n.*631C>T) | |
| 1 | g.201078030G>C | CA344122287 | CACNA1S | c.1468C>G (p.Gln490Glu) c.*631C>G (n.*631C>G) | ClinVar |
| 1 | g.201078030G>T | CA344122291 | CACNA1S | c.1468C>A (p.Gln490Lys) c.*631C>A (n.*631C>A) | |
| 1 | g.201078031G>A | CA422815223 | CACNA1S | c.1467C>T (p.Arg489=) c.*630C>T (n.*630C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201078031G>C | CA422815216 | CACNA1S | c.1467C>G (p.Arg489=) c.*630C>G (n.*630C>G) | |
| 1 | g.201078031G= | CA1219585202 | CACNA1S | c.1467C= (p.Arg489=) c.*630C= (n.*630C=) | |
| 1 | g.201078031G>T | CA422815225 | CACNA1S | c.1467C>A (p.Arg489=) c.*630C>A (n.*630C>A) | |
| 1 | g.201078032C>A | CA344122294 | CACNA1S | c.1466G>T (p.Arg489Leu) c.*629G>T (n.*629G>T) | |
| 1 | g.201078032C= | CA1146253504 | CACNA1S | c.1466G= (p.Arg489=) c.*629G= (n.*629G=) | |
| 1 | g.201078032C>G | CA344122295 | CACNA1S | c.1466G>C (p.Arg489Pro) c.*629G>C (n.*629G>C) | |
| 1 | g.201078032C>T | CA078255 | CACNA1S | c.1466G>A (p.Arg489His) c.*629G>A (n.*629G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201078033G>A | CA078252 | CACNA1S | c.1465C>T (p.Arg489Cys) c.*628C>T (n.*628C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201078033G>C | CA344122303 | CACNA1S | c.1465C>G (p.Arg489Gly) c.*628C>G (n.*628C>G) | |
| 1 | g.201078033G= | CA1141612959 | CACNA1S | c.1465C= (p.Arg489=) c.*628C= (n.*628C=) | |
| 1 | g.201078033G>T | CA344122307 | CACNA1S | c.1465C>A (p.Arg489Ser) c.*628C>A (n.*628C>A) | |
| 1 | g.201078034C>A | CA422815229 | CACNA1S | c.1464G>T (p.Leu488=) c.*627G>T (n.*627G>T) | |
| 1 | g.201078034C>G | CA422815232 | CACNA1S | c.1464G>C (p.Leu488=) c.*627G>C (n.*627G>C) | gnomAD v4 |
| 1 | g.201078034C>T | CA422815231 | CACNA1S | c.1464G>A (p.Leu488=) c.*627G>A (n.*627G>A) | |
| 1 | g.201078035A>C | CA344122318 | CACNA1S | c.1463T>G (p.Leu488Arg) c.*626T>G (n.*626T>G) | |
| 1 | g.201078035A>G | CA344122319 | CACNA1S | c.1463T>C (p.Leu488Pro) c.*626T>C (n.*626T>C) | |
| 1 | g.201078035A>T | CA344122315 | CACNA1S | c.1463T>A (p.Leu488Gln) c.*626T>A (n.*626T>A) | |
| 1 | g.201078036G>A | CA422815233 | CACNA1S | c.1462C>T (p.Leu488=) c.*625C>T (n.*625C>T) | |
| 1 | g.201078036G>C | CA344122320 | CACNA1S | c.1462C>G (p.Leu488Val) c.*625C>G (n.*625C>G) | |
| 1 | g.201078036G>T | CA344122322 | CACNA1S | c.1462C>A (p.Leu488Met) c.*625C>A (n.*625C>A) | |
| 1 | g.201078037G>A | CA422815238 | CACNA1S | c.1461C>T (p.Gly487=) c.*624C>T (n.*624C>T) | ClinVar |
| 1 | g.201078037G>C | CA422815236 | CACNA1S | c.1461C>G (p.Gly487=) c.*624C>G (n.*624C>G) | |
| 1 | g.201078037G= | CA1149040387 | CACNA1S | c.1461C= (p.Gly487=) c.*624C= (n.*624C=) | |
| 1 | g.201078037G>T | CA078251 | CACNA1S | c.1461C>A (p.Gly487=) c.*624C>A (n.*624C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201078038C>A | CA344122330 | CACNA1S | c.1460G>T (p.Gly487Val) c.*623G>T (n.*623G>T) | |
| 1 | g.201078038C>G | CA344122333 | CACNA1S | c.1460G>C (p.Gly487Ala) c.*623G>C (n.*623G>C) | |
| 1 | g.201078038C>T | CA344122363 | CACNA1S | c.1460G>A (p.Gly487Asp) c.*623G>A (n.*623G>A) | |
| 1 | g.201078039C>A | CA344122367 | CACNA1S | c.1459G>T (p.Gly487Cys) c.*622G>T (n.*622G>T) | |
| 1 | g.201078039C>G | CA344122372 | CACNA1S | c.1459G>C (p.Gly487Arg) c.*622G>C (n.*622G>C) | |
| 1 | g.201078039C>T | CA344122376 | CACNA1S | c.1459G>A (p.Gly487Ser) c.*622G>A (n.*622G>A) | ClinVar |
| 1 | g.201078040C>A | CA422815240 | CACNA1S | c.1458G>T (p.Leu486=) c.*621G>T (n.*621G>T) | |
| 1 | g.201078040C= | CA1144334343 | CACNA1S | c.1458G= (p.Leu486=) c.*621G= (n.*621G=) | |
| 1 | g.201078040C>G | CA422815242 | CACNA1S | c.1458G>C (p.Leu486=) c.*621G>C (n.*621G>C) | |
| 1 | g.201078040C>T | CA078249 | CACNA1S | c.1458G>A (p.Leu486=) c.*621G>A (n.*621G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201078041A>C | CA344122397 | CACNA1S | c.1457T>G (p.Leu486Arg) c.*620T>G (n.*620T>G) | |
| 1 | g.201078041A>G | CA344122406 | CACNA1S | c.1457T>C (p.Leu486Pro) c.*620T>C (n.*620T>C) | |
| 1 | g.201078041A>T | CA344122409 | CACNA1S | c.1457T>A (p.Leu486Gln) c.*620T>A (n.*620T>A) | |
| 1 | g.201078042G>A | CA422815244 | CACNA1S | c.1456C>T (p.Leu486=) c.*619C>T (n.*619C>T) | |
| 1 | g.201078042G>C | CA344122414 | CACNA1S | c.1456C>G (p.Leu486Val) c.*619C>G (n.*619C>G) | |
| 1 | g.201078042G>T | CA344122418 | CACNA1S | c.1456C>A (p.Leu486Met) c.*619C>A (n.*619C>A) | |
| 1 | g.201078043C>A | CA078247 | CACNA1S | c.1455G>T (p.Gly485=) c.*618G>T (n.*618G>T) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.201078043C= | CA1219585203 | CACNA1S | c.1455G= (p.Gly485=) c.*618G= (n.*618G=) | |
| 1 | g.201078043C>G | CA422815245 | CACNA1S | c.1455G>C (p.Gly485=) c.*618G>C (n.*618G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201078043C>T | CA422815248 | CACNA1S | c.1455G>A (p.Gly485=) c.*618G>A (n.*618G>A) | |
| 1 | g.201078044C>A | CA344122419 | CACNA1S | c.1454G>T (p.Gly485Val) c.*617G>T (n.*617G>T) | |
| 1 | g.201078044C>G | CA344122420 | CACNA1S | c.1454G>C (p.Gly485Ala) c.*617G>C (n.*617G>C) | |
| 1 | g.201078044C>T | CA344122422 | CACNA1S | c.1454G>A (p.Gly485Glu) c.*617G>A (n.*617G>A) | |
| 1 | g.201078045C>A | CA344122426 | CACNA1S | c.1453G>T (p.Gly485Trp) c.*616G>T (n.*616G>T) | gnomAD v4 |
| 1 | g.201078045C= | CA1144062201 | CACNA1S | c.1453G= (p.Gly485=) c.*616G= (n.*616G=) | |
| 1 | g.201078045C>G | CA078245 | CACNA1S | c.1453G>C (p.Gly485Arg) c.*616G>C (n.*616G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201078045C>T | CA078242 | CACNA1S | c.1453G>A (p.Gly485Arg) c.*616G>A (n.*616G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201078045_201078046delinsCG | CA1219585204 | CACNA1S | c.1452_1453delinsCG (p.Tyr484=) c.*615_*616delinsCG (n.*615_*616delinsCG) | |
| 1 | g.201078046del | CA1011169975 | CACNA1S | c.1452del (p.Tyr484Ter) c.*615del (n.*615del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201078046G>A | CA078240 | CACNA1S | c.1452C>T (p.Tyr484=) c.*615C>T (n.*615C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201078046G>C | CA344122431 | CACNA1S | c.1452C>G (p.Tyr484Ter) c.*615C>G (n.*615C>G) | |
| 1 | g.201078046G= | CA1141977278 | CACNA1S | c.1452C= (p.Tyr484=) c.*615C= (n.*615C=) | |
| 1 | g.201078046G>T | CA344122435 | CACNA1S | c.1452C>A (p.Tyr484Ter) c.*615C>A (n.*615C>A) | |
| 1 | g.201078047T>A | CA344122440 | CACNA1S | c.1451A>T (p.Tyr484Phe) c.*614A>T (n.*614A>T) | |
| 1 | g.201078047T>C | CA344122445 | CACNA1S | c.1451A>G (p.Tyr484Cys) c.*614A>G (n.*614A>G) | COSMIC |
| 1 | g.201078047T>G | CA344122448 | CACNA1S | c.1451A>C (p.Tyr484Ser) c.*614A>C (n.*614A>C) | |
| 1 | g.201078048A= | CA1219585205 | CACNA1S | c.1450T= (p.Tyr484=) c.*613T= (n.*613T=) | |
| 1 | g.201078048A>C | CA344122454 | CACNA1S | c.1450T>G (p.Tyr484Asp) c.*613T>G (n.*613T>G) | |
| 1 | g.201078048A>G | CA344122455 | CACNA1S | c.1450T>C (p.Tyr484His) c.*613T>C (n.*613T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201078048A>T | CA344122453 | CACNA1S | c.1450T>A (p.Tyr484Asn) c.*613T>A (n.*613T>A) | |
| 1 | g.201078049C>A | CA344122459 | CACNA1S | c.1449G>T (p.Met483Ile) c.*612G>T (n.*612G>T) | |
| 1 | g.201078049C= | CA1219585206 | CACNA1S | c.1449G= (p.Met483=) c.*612G= (n.*612G=) | |
| 1 | g.201078049C>G | CA344122456 | CACNA1S | c.1449G>C (p.Met483Ile) c.*612G>C (n.*612G>C) | |
| 1 | g.201078049C>T | CA344122461 | CACNA1S | c.1449G>A (p.Met483Ile) c.*612G>A (n.*612G>A) | |
| 1 | g.201078049_201078050insTG | CA1011169983 | CACNA1S | c.1448_1449insCA (p.Met483IlefsTer?) c.*611_*612insCA (n.*611_*612insCA) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201078050A= | CA1219585207 | CACNA1S | c.1448T= (p.Met483=) c.*611T= (n.*611T=) | |
| 1 | g.201078050A>C | CA344122465 | CACNA1S | c.1448T>G (p.Met483Arg) c.*611T>G (n.*611T>G) | |
| 1 | g.201078050A>G | CA35979205 | CACNA1S | c.1448T>C (p.Met483Thr) c.*611T>C (n.*611T>C) | dbSNP gnomAD v4 |
| 1 | g.201078050A>T | CA344122471 | CACNA1S | c.1448T>A (p.Met483Lys) c.*611T>A (n.*611T>A) | |
| 1 | g.201078051T>A | CA344122473 | CACNA1S | c.1447A>T (p.Met483Leu) c.*610A>T (n.*610A>T) | |
| 1 | g.201078051T>C | CA344122481 | CACNA1S | c.1447A>G (p.Met483Val) c.*610A>G (n.*610A>G) | gnomAD v4 |
| 1 | g.201078051T>G | CA344122484 | CACNA1S | c.1447A>C (p.Met483Leu) c.*610A>C (n.*610A>C) | |
| 1 | g.201078052C>A | CA344122498 | CACNA1S | c.1446G>T (p.Lys482Asn) c.*609G>T (n.*609G>T) | |
| 1 | g.201078052C= | CA1219585208 | CACNA1S | c.1446G= (p.Lys482=) c.*609G= (n.*609G=) | |
| 1 | g.201078052C>G | CA344122501 | CACNA1S | c.1446G>C (p.Lys482Asn) c.*609G>C (n.*609G>C) | |
| 1 | g.201078052C>T | CA422815254 | CACNA1S | c.1446G>A (p.Lys482=) c.*609G>A (n.*609G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201078053T>A | CA344122511 | CACNA1S | c.1445A>T (p.Lys482Met) c.*608A>T (n.*608A>T) | |
| 1 | g.201078053T>C | CA344122514 | CACNA1S | c.1445A>G (p.Lys482Arg) c.*608A>G (n.*608A>G) | |
| 1 | g.201078053T>G | CA344122522 | CACNA1S | c.1445A>C (p.Lys482Thr) c.*608A>C (n.*608A>C) | |
| 1 | g.201078054T>A | CA344122530 | CACNA1S | c.1444A>T (p.Lys482Ter) c.*607A>T (n.*607A>T) | dbSNP |
| 1 | g.201078054T>C | CA344122527 | CACNA1S | c.1444A>G (p.Lys482Glu) c.*607A>G (n.*607A>G) | |
| 1 | g.201078054T>G | CA344122524 | CACNA1S | c.1444A>C (p.Lys482Gln) c.*607A>C (n.*607A>C) | |
| 1 | g.201078054T= | CA1219585209 | CACNA1S | c.1444A= (p.Lys482=) c.*607A= (n.*607A=) | |
| 1 | g.201078055C>A | CA344122539 | CACNA1S | c.1443G>T (p.Met481Ile) c.*606G>T (n.*606G>T) | |
| 1 | g.201078055C>G | CA344122545 | CACNA1S | c.1443G>C (p.Met481Ile) c.*606G>C (n.*606G>C) | |
| 1 | g.201078055C>T | CA344122550 | CACNA1S | c.1443G>A (p.Met481Ile) c.*606G>A (n.*606G>A) | gnomAD v4 |
| 1 | g.201078056A= | CA1219585210 | CACNA1S | c.1442T= (p.Met481=) c.*605T= (n.*605T=) | |
| 1 | g.201078056A>C | CA344122554 | CACNA1S | c.1442T>G (p.Met481Arg) c.*605T>G (n.*605T>G) | |
| 1 | g.201078056A>G | CA344122555 | CACNA1S | c.1442T>C (p.Met481Thr) c.*605T>C (n.*605T>C) | |
| 1 | g.201078056A>T | CA344122556 | CACNA1S | c.1442T>A (p.Met481Lys) c.*605T>A (n.*605T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201078057T>A | CA344122557 | CACNA1S | c.1441A>T (p.Met481Leu) c.*604A>T (n.*604A>T) | |
| 1 | g.201078057T>C | CA344122569 | CACNA1S | c.1441A>G (p.Met481Val) c.*604A>G (n.*604A>G) | |
| 1 | g.201078057T>G | CA344122573 | CACNA1S | c.1441A>C (p.Met481Leu) c.*604A>C (n.*604A>C) | |
| 1 | g.201078058C>A | CA422815257 | CACNA1S | c.1440G>T (p.Leu480=) c.*603G>T (n.*603G>T) | |
| 1 | g.201078058C>G | CA422815255 | CACNA1S | c.1440G>C (p.Leu480=) c.*603G>C (n.*603G>C) | |
| 1 | g.201078058C>T | CA422815256 | CACNA1S | c.1440G>A (p.Leu480=) c.*603G>A (n.*603G>A) | ClinVar |
| 1 | g.201078059A>C | CA344122575 | CACNA1S | c.1439T>G (p.Leu480Arg) c.*602T>G (n.*602T>G) | |
| 1 | g.201078059A>G | CA344122577 | CACNA1S | c.1439T>C (p.Leu480Pro) c.*602T>C (n.*602T>C) | |
| 1 | g.201078059A>T | CA344122581 | CACNA1S | c.1439T>A (p.Leu480Gln) c.*602T>A (n.*602T>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201078060G>A | CA422815258 | CACNA1S | c.1438C>T (p.Leu480=) c.*601C>T (n.*601C>T) | |
| 1 | g.201078060G>C | CA344122596 | CACNA1S | c.1438C>G (p.Leu480Val) c.*601C>G (n.*601C>G) | |
| 1 | g.201078060G>T | CA344122594 | CACNA1S | c.1438C>A (p.Leu480Met) c.*601C>A (n.*601C>A) | |
| 1 | g.201078061C>A | CA078238 | CACNA1S | c.1437G>T (p.Met479Ile) c.*600G>T (n.*600G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201078061C= | CA1219585211 | CACNA1S | c.1437G= (p.Met479=) c.*600G= (n.*600G=) | |
| 1 | g.201078061C>G | CA344122598 | CACNA1S | c.1437G>C (p.Met479Ile) c.*600G>C (n.*600G>C) | |
| 1 | g.201078061C>T | CA344122602 | CACNA1S | c.1437G>A (p.Met479Ile) c.*600G>A (n.*600G>A) | |
| 1 | g.201078062A= | CA1219585212 | CACNA1S | c.1436T= (p.Met479=) c.*599T= (n.*599T=) | |
| 1 | g.201078062A>C | CA344122620 | CACNA1S | c.1436T>G (p.Met479Arg) c.*599T>G (n.*599T>G) | |
| 1 | g.201078062A>G | CA344122625 | CACNA1S | c.1436T>C (p.Met479Thr) c.*599T>C (n.*599T>C) | gnomAD v4 |
| 1 | g.201078062A>T | CA344122627 | CACNA1S | c.1436T>A (p.Met479Lys) c.*599T>A (n.*599T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201078063T>A | CA344122631 | CACNA1S | c.1435A>T (p.Met479Leu) c.*598A>T (n.*598A>T) | gnomAD v4 |
| 1 | g.201078063T>C | CA344122629 | CACNA1S | c.1435A>G (p.Met479Val) c.*598A>G (n.*598A>G) | gnomAD v4 |
| 1 | g.201078063T>G | CA344122630 | CACNA1S | c.1435A>C (p.Met479Leu) c.*598A>C (n.*598A>C) | |
| 1 | g.201078064C>A | CA344122633 | CACNA1S | c.1434G>T (p.Glu478Asp) c.*597G>T (n.*597G>T) | |
| 1 | g.201078064C>G | CA344122639 | CACNA1S | c.1434G>C (p.Glu478Asp) c.*597G>C (n.*597G>C) | |
| 1 | g.201078064C>T | CA422815259 | CACNA1S | c.1434G>A (p.Glu478=) c.*597G>A (n.*597G>A) | |
| 1 | g.201078065T>A | CA344122642 | CACNA1S | c.1433A>T (p.Glu478Val) c.*596A>T (n.*596A>T) | |
| 1 | g.201078065T>C | CA344122643 | CACNA1S | c.1433A>G (p.Glu478Gly) c.*596A>G (n.*596A>G) | dbSNP |
| 1 | g.201078065T>G | CA078236 | CACNA1S | c.1433A>C (p.Glu478Ala) c.*596A>C (n.*596A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201078065T= | CA1219585213 | CACNA1S | c.1433A= (p.Glu478=) c.*596A= (n.*596A=) | |
| 1 | g.201078066C>A | CA344122646 | CACNA1S | c.1432G>T (p.Glu478Ter) c.*595G>T (n.*595G>T) | dbSNP gnomAD v4 |
| 1 | g.201078066C= | CA1219585214 | CACNA1S | c.1432G= (p.Glu478=) c.*595G= (n.*595G=) | |
| 1 | g.201078066C>G | CA344122651 | CACNA1S | c.1432G>C (p.Glu478Gln) c.*595G>C (n.*595G>C) | |
| 1 | g.201078066C>T | CA344122647 | CACNA1S | c.1432G>A (p.Glu478Lys) c.*595G>A (n.*595G>A) | |
| 1 | g.201078067A= | CA1219585215 | CACNA1S | c.1431T= (p.Thr477=) c.*594T= (n.*594T=) | |
| 1 | g.201078067A>C | CA422815261 | CACNA1S | c.1431T>G (p.Thr477=) c.*594T>G (n.*594T>G) | gnomAD v4 |
| 1 | g.201078067A>G | CA422815260 | CACNA1S | c.1431T>C (p.Thr477=) c.*594T>C (n.*594T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201078067A>T | CA422815262 | CACNA1S | c.1431T>A (p.Thr477=) c.*594T>A (n.*594T>A) | |
| 1 | g.201078068G>A | CA344122666 | CACNA1S | c.1430C>T (p.Thr477Ile) c.*593C>T (n.*593C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201078068G>C | CA344122668 | CACNA1S | c.1430C>G (p.Thr477Ser) c.*593C>G (n.*593C>G) | |
| 1 | g.201078068G= | CA1219585216 | CACNA1S | c.1430C= (p.Thr477=) c.*593C= (n.*593C=) | |
| 1 | g.201078068G>T | CA344122669 | CACNA1S | c.1430C>A (p.Thr477Asn) c.*593C>A (n.*593C>A) | gnomAD v4 |