Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | 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) | |
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) |