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.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) | |
| 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) | |
| 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) | |
| 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 |
| 1 | g.201078069T>A | CA344122670 | CACNA1S | c.1429A>T (p.Thr477Ser) c.*592A>T (n.*592A>T) | |
| 1 | g.201078069T>C | CA344122679 | CACNA1S | c.1429A>G (p.Thr477Ala) c.*592A>G (n.*592A>G) | dbSNP |
| 1 | g.201078069T>G | CA344122680 | CACNA1S | c.1429A>C (p.Thr477Pro) c.*592A>C (n.*592A>C) | |
| 1 | g.201078070G>A | CA422815264 | CACNA1S | c.1428C>T (p.Thr476=) c.*591C>T (n.*591C>T) | |
| 1 | g.201078070G>C | CA422815265 | CACNA1S | c.1428C>G (p.Thr476=) c.*591C>G (n.*591C>G) | |
| 1 | g.201078070G>T | CA422815263 | CACNA1S | c.1428C>A (p.Thr476=) c.*591C>A (n.*591C>A) | |
| 1 | g.201078071G>A | CA344122685 | CACNA1S | c.1427C>T (p.Thr476Ile) c.*590C>T (n.*590C>T) | |
| 1 | g.201078071G>C | CA344122688 | CACNA1S | c.1427C>G (p.Thr476Ser) c.*590C>G (n.*590C>G) | |
| 1 | g.201078071G>T | CA344122689 | CACNA1S | c.1427C>A (p.Thr476Asn) c.*590C>A (n.*590C>A) | gnomAD v4 |
| 1 | g.201078072T>A | CA344122690 | CACNA1S | c.1426A>T (p.Thr476Ser) c.*589A>T (n.*589A>T) | |
| 1 | g.201078072T>C | CA344122691 | CACNA1S | c.1426A>G (p.Thr476Ala) c.*589A>G (n.*589A>G) | |
| 1 | g.201078072T>G | CA344122694 | CACNA1S | c.1426A>C (p.Thr476Pro) c.*589A>C (n.*589A>C) | |
| 1 | g.201078073G>A | CA422815266 | CACNA1S | c.1425C>T (p.Phe475=) c.*588C>T (n.*588C>T) | |
| 1 | g.201078073G>C | CA344122705 | CACNA1S | c.1425C>G (p.Phe475Leu) c.*588C>G (n.*588C>G) | |
| 1 | g.201078073G>T | CA344122701 | CACNA1S | c.1425C>A (p.Phe475Leu) c.*588C>A (n.*588C>A) | |
| 1 | g.201078074A>C | CA344122709 | CACNA1S | c.1424T>G (p.Phe475Cys) c.*587T>G (n.*587T>G) | |
| 1 | g.201078074A>G | CA344122714 | CACNA1S | c.1424T>C (p.Phe475Ser) c.*587T>C (n.*587T>C) | |
| 1 | g.201078074A>T | CA344122711 | CACNA1S | c.1424T>A (p.Phe475Tyr) c.*587T>A (n.*587T>A) | |
| 1 | g.201078075A>C | CA344122715 | CACNA1S | c.1423T>G (p.Phe475Val) c.*586T>G (n.*586T>G) | gnomAD v4 |
| 1 | g.201078075A>G | CA344122719 | CACNA1S | c.1423T>C (p.Phe475Leu) c.*586T>C (n.*586T>C) | |
| 1 | g.201078075A>T | CA344122722 | CACNA1S | c.1423T>A (p.Phe475Ile) c.*586T>A (n.*586T>A) | |
| 1 | g.201078076G>A | CA422815267 | CACNA1S | c.1422C>T (p.Leu474=) c.*585C>T (n.*585C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201078076G>C | CA422815268 | CACNA1S | c.1422C>G (p.Leu474=) c.*585C>G (n.*585C>G) | |
| 1 | g.201078076G>T | CA422815269 | CACNA1S | c.1422C>A (p.Leu474=) c.*585C>A (n.*585C>A) | |
| 1 | g.201078077A>C | CA344122726 | CACNA1S | c.1421T>G (p.Leu474Arg) c.*584T>G (n.*584T>G) | |
| 1 | g.201078077A>G | CA344122730 | CACNA1S | c.1421T>C (p.Leu474Pro) c.*584T>C (n.*584T>C) | |
| 1 | g.201078077A>T | CA344122734 | CACNA1S | c.1421T>A (p.Leu474His) c.*584T>A (n.*584T>A) | |
| 1 | g.201078078G>A | CA344122742 | CACNA1S | c.1420C>T (p.Leu474Phe) c.*583C>T (n.*583C>T) | dbSNP |
| 1 | g.201078078G>C | CA344122756 | CACNA1S | c.1420C>G (p.Leu474Val) c.*583C>G (n.*583C>G) | |
| 1 | g.201078078G= | CA1219585217 | CACNA1S | c.1420C= (p.Leu474=) c.*583C= (n.*583C=) | |
| 1 | g.201078078G>T | CA344122759 | CACNA1S | c.1420C>A (p.Leu474Ile) c.*583C>A (n.*583C>A) | |
| 1 | g.201078079G>A | CA422815270 | CACNA1S | c.1419C>T (p.Ser473=) c.*582C>T (n.*582C>T) | gnomAD v4 |
| 1 | g.201078079G>C | CA422815272 | CACNA1S | c.1419C>G (p.Ser473=) c.*582C>G (n.*582C>G) | |
| 1 | g.201078079G>T | CA422815271 | CACNA1S | c.1419C>A (p.Ser473=) c.*582C>A (n.*582C>A) | |
| 1 | g.201078080G>A | CA344122760 | CACNA1S | c.1418C>T (p.Ser473Phe) c.*581C>T (n.*581C>T) | |
| 1 | g.201078080G>C | CA344122762 | CACNA1S | c.1418C>G (p.Ser473Cys) c.*581C>G (n.*581C>G) | COSMIC |
| 1 | g.201078080G>T | CA344122764 | CACNA1S | c.1418C>A (p.Ser473Tyr) c.*581C>A (n.*581C>A) | |
| 1 | g.201078081A= | CA1219585218 | CACNA1S | c.1417T= (p.Ser473=) c.*580T= (n.*580T=) | |
| 1 | g.201078081A>C | CA344122769 | CACNA1S | c.1417T>G (p.Ser473Ala) c.*580T>G (n.*580T>G) | |
| 1 | g.201078081A>G | CA344122765 | CACNA1S | c.1417T>C (p.Ser473Pro) c.*580T>C (n.*580T>C) | gnomAD v4 |
| 1 | g.201078081A>T | CA344122767 | CACNA1S | c.1417T>A (p.Ser473Thr) c.*580T>A (n.*580T>A) | dbSNP gnomAD v2 |
| 1 | g.201078082C>A | CA422815273 | CACNA1S | c.1416G>T (p.Leu472=) c.*579G>T (n.*579G>T) | COSMIC |
| 1 | g.201078082C>G | CA422815274 | CACNA1S | c.1416G>C (p.Leu472=) c.*579G>C (n.*579G>C) | |
| 1 | g.201078082C>T | CA422815275 | CACNA1S | c.1416G>A (p.Leu472=) c.*579G>A (n.*579G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201078083A>C | CA344122776 | CACNA1S | c.1415T>G (p.Leu472Arg) c.*578T>G (n.*578T>G) | |
| 1 | g.201078083A>G | CA344122777 | CACNA1S | c.1415T>C (p.Leu472Pro) c.*578T>C (n.*578T>C) | gnomAD v4 |
| 1 | g.201078083A>T | CA344122778 | CACNA1S | c.1415T>A (p.Leu472Gln) c.*578T>A (n.*578T>A) | |
| 1 | g.201078084G>A | CA422815276 | CACNA1S | c.1414C>T (p.Leu472=) c.*577C>T (n.*577C>T) | |
| 1 | g.201078084G>C | CA344122779 | CACNA1S | c.1414C>G (p.Leu472Val) c.*577C>G (n.*577C>G) | dbSNP |
| 1 | g.201078084G>T | CA344122791 | CACNA1S | c.1414C>A (p.Leu472Met) c.*577C>A (n.*577C>A) | |
| 1 | g.201078087_201078100del | CA2573131416 | CACNA1S | c.1401_1414del (p.Asn468ValfsTer6) c.*564_*577del (n.*564_*577del) | ClinVar dbSNP |
| 1 | g.201078085C>A | CA422815278 | CACNA1S | c.1413G>T (p.Leu471=) c.*576G>T (n.*576G>T) | dbSNP |
| 1 | g.201078085C>G | CA422815277 | CACNA1S | c.1413G>C (p.Leu471=) c.*576G>C (n.*576G>C) | ClinVar |
| 1 | g.201078085C>T | CA422815279 | CACNA1S | c.1413G>A (p.Leu471=) c.*576G>A (n.*576G>A) | gnomAD v4 |
| 1 | g.201078086A>C | CA344122798 | CACNA1S | c.1412T>G (p.Leu471Arg) c.*575T>G (n.*575T>G) | |
| 1 | g.201078086A>G | CA344122801 | CACNA1S | c.1412T>C (p.Leu471Pro) c.*575T>C (n.*575T>C) | |
| 1 | g.201078086A>T | CA344122804 | CACNA1S | c.1412T>A (p.Leu471Gln) c.*575T>A (n.*575T>A) | |
| 1 | g.201078087G>A | CA35979216 | CACNA1S | c.1411C>T (p.Leu471=) c.*574C>T (n.*574C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201078087G>C | CA344122824 | CACNA1S | c.1411C>G (p.Leu471Val) c.*574C>G (n.*574C>G) | |
| 1 | g.201078087G= | CA1142113333 | CACNA1S | c.1411C= (p.Leu471=) c.*574C= (n.*574C=) | |
| 1 | g.201078087G>T | CA078233 | CACNA1S | c.1411C>A (p.Leu471Met) c.*574C>A (n.*574C>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.201078088C>A | CA422815280 | CACNA1S | c.1410G>T (p.Val470=) c.*573G>T (n.*573G>T) | |
| 1 | g.201078088C= | CA1219585219 | CACNA1S | c.1410G= (p.Val470=) c.*573G= (n.*573G=) | |
| 1 | g.201078088C>G | CA422815281 | CACNA1S | c.1410G>C (p.Val470=) c.*573G>C (n.*573G>C) | ClinVar dbSNP |
| 1 | g.201078088C>T | CA422815282 | CACNA1S | c.1410G>A (p.Val470=) c.*573G>A (n.*573G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201078089A>C | CA344122834 | CACNA1S | c.1409T>G (p.Val470Gly) c.*572T>G (n.*572T>G) | gnomAD v4 |
| 1 | g.201078089A>G | CA344122835 | CACNA1S | c.1409T>C (p.Val470Ala) c.*572T>C (n.*572T>C) | |
| 1 | g.201078089A>T | CA344122831 | CACNA1S | c.1409T>A (p.Val470Glu) c.*572T>A (n.*572T>A) | |
| 1 | g.201078090C>A | CA344122836 | CACNA1S | c.1408G>T (p.Val470Leu) c.*571G>T (n.*571G>T) | ClinVar dbSNP |
| 1 | g.201078090C= | CA1219585220 | CACNA1S | c.1408G= (p.Val470=) c.*571G= (n.*571G=) | |
| 1 | g.201078090C>G | CA344122837 | CACNA1S | c.1408G>C (p.Val470Leu) c.*571G>C (n.*571G>C) | |
| 1 | g.201078090C>T | CA35979231 | CACNA1S | c.1408G>A (p.Val470Met) c.*571G>A (n.*571G>A) | dbSNP gnomAD v4 |
| 1 | g.201078091C>A | CA422815284 | CACNA1S | c.1407G>T (p.Arg469=) c.*570G>T (n.*570G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201078091C= | CA1219585221 | CACNA1S | c.1407G= (p.Arg469=) c.*570G= (n.*570G=) | |
| 1 | g.201078091C>G | CA422815283 | CACNA1S | c.1407G>C (p.Arg469=) c.*570G>C (n.*570G>C) | |
| 1 | g.201078091C>T | CA422815285 | CACNA1S | c.1407G>A (p.Arg469=) c.*570G>A (n.*570G>A) | |
| 1 | g.201078092C>A | CA078228 | CACNA1S | c.1406G>T (p.Arg469Leu) c.*569G>T (n.*569G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201078092C= | CA1143768604 | CACNA1S | c.1406G= (p.Arg469=) c.*569G= (n.*569G=) | |
| 1 | g.201078092C>G | CA344122853 | CACNA1S | c.1406G>C (p.Arg469Pro) c.*569G>C (n.*569G>C) | |
| 1 | g.201078092C>T | CA078226 | CACNA1S | c.1406G>A (p.Arg469Gln) c.*569G>A (n.*569G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201078093G>A | CA078225 | CACNA1S | c.1405C>T (p.Arg469Trp) c.*568C>T (n.*568C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201078093G>C | CA078223 | CACNA1S | c.1405C>G (p.Arg469Gly) c.*568C>G (n.*568C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201078093G= | CA1219585222 | CACNA1S | c.1405C= (p.Arg469=) c.*568C= (n.*568C=) | |
| 1 | g.201078093G>T | CA422815286 | CACNA1S | c.1405C>A (p.Arg469=) c.*568C>A (n.*568C>A) | |
| 1 | g.201078094G>A | CA422815287 | CACNA1S | c.1404C>T (p.Asn468=) c.*567C>T (n.*567C>T) | |
| 1 | g.201078094G>C | CA344122860 | CACNA1S | c.1404C>G (p.Asn468Lys) c.*567C>G (n.*567C>G) | |
| 1 | g.201078094G>T | CA344122861 | CACNA1S | c.1404C>A (p.Asn468Lys) c.*567C>A (n.*567C>A) | |
| 1 | g.201078095T>A | CA078221 | CACNA1S | c.1403A>T (p.Asn468Ile) c.*566A>T (n.*566A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201078095T>C | CA344122874 | CACNA1S | c.1403A>G (p.Asn468Ser) c.*566A>G (n.*566A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201078095T>G | CA344122876 | CACNA1S | c.1403A>C (p.Asn468Thr) c.*566A>C (n.*566A>C) | |
| 1 | g.201078095T= | CA1219585223 | CACNA1S | c.1403A= (p.Asn468=) c.*566A= (n.*566A=) | |
| 1 | g.201078096T>A | CA344122881 | CACNA1S | c.1402A>T (p.Asn468Tyr) c.*565A>T (n.*565A>T) | |
| 1 | g.201078096T>C | CA344122879 | CACNA1S | c.1402A>G (p.Asn468Asp) c.*565A>G (n.*565A>G) | |
| 1 | g.201078096T>G | CA344122877 | CACNA1S | c.1402A>C (p.Asn468His) c.*565A>C (n.*565A>C) | gnomAD v4 |
| 1 | g.201078097G>A | CA422815288 | CACNA1S | c.1401C>T (p.Ala467=) c.*564C>T (n.*564C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201078097G>C | CA422815289 | CACNA1S | c.1401C>G (p.Ala467=) c.*564C>G (n.*564C>G) | |
| 1 | g.201078097G= | CA1219585224 | CACNA1S | c.1401C= (p.Ala467=) c.*564C= (n.*564C=) | |
| 1 | g.201078097G>T | CA422815290 | CACNA1S | c.1401C>A (p.Ala467=) c.*564C>A (n.*564C>A) | |
| 1 | g.201078098G>A | CA344122882 | CACNA1S | c.1400C>T (p.Ala467Val) c.*563C>T (n.*563C>T) | gnomAD v4 |
| 1 | g.201078098G>C | CA344122884 | CACNA1S | c.1400C>G (p.Ala467Gly) c.*563C>G (n.*563C>G) | |
| 1 | g.201078098G>T | CA344122890 | CACNA1S | c.1400C>A (p.Ala467Asp) c.*563C>A (n.*563C>A) | |
| 1 | g.201078099C>A | CA344122894 | CACNA1S | c.1399G>T (p.Ala467Ser) c.*562G>T (n.*562G>T) | |
| 1 | g.201078099C>G | CA344122895 | CACNA1S | c.1399G>C (p.Ala467Pro) c.*562G>C (n.*562G>C) | |
| 1 | g.201078099C>T | CA344122896 | CACNA1S | c.1399G>A (p.Ala467Thr) c.*562G>A (n.*562G>A) | |
| 1 | g.201078100A= | CA1219585225 | CACNA1S | c.1398T= (p.Ile466=) c.*561T= (n.*561T=) | |
| 1 | g.201078100A>C | CA344122899 | CACNA1S | c.1398T>G (p.Ile466Met) c.*561T>G (n.*561T>G) | |
| 1 | g.201078100A>G | CA078216 | CACNA1S | c.1398T>C (p.Ile466=) c.*561T>C (n.*561T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201078100A>T | CA422815291 | CACNA1S | c.1398T>A (p.Ile466=) c.*561T>A (n.*561T>A) | |
| 1 | g.201078101A>C | CA344122904 | CACNA1S | c.1397T>G (p.Ile466Ser) c.*560T>G (n.*560T>G) | |
| 1 | g.201078101A>G | CA344122906 | CACNA1S | c.1397T>C (p.Ile466Thr) c.*560T>C (n.*560T>C) | |
| 1 | g.201078101A>T | CA344122907 | CACNA1S | c.1397T>A (p.Ile466Asn) c.*560T>A (n.*560T>A) | |
| 1 | g.201078102T>A | CA078214 | CACNA1S | c.1396A>T (p.Ile466Phe) c.*559A>T (n.*559A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201078102T>C | CA344122908 | CACNA1S | c.1396A>G (p.Ile466Val) c.*559A>G (n.*559A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201078102T>G | CA344122909 | CACNA1S | c.1396A>C (p.Ile466Leu) c.*559A>C (n.*559A>C) | |
| 1 | g.201078102T= | CA1141987435 | CACNA1S | c.1396A= (p.Ile466=) c.*559A= (n.*559A=) | |
| 1 | g.201078103G>A | CA078213 | CACNA1S | c.1395C>T (p.Asp465=) c.*558C>T (n.*558C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201078103G>C | CA344122915 | CACNA1S | c.1395C>G (p.Asp465Glu) c.*558C>G (n.*558C>G) | |
| 1 | g.201078103G= | CA1143047068 | CACNA1S | c.1395C= (p.Asp465=) c.*558C= (n.*558C=) | |
| 1 | g.201078103G>T | CA344122913 | CACNA1S | c.1395C>A (p.Asp465Glu) c.*558C>A (n.*558C>A) | |
| 1 | g.201078104T>A | CA344122919 | CACNA1S | c.1394A>T (p.Asp465Val) c.*557A>T (n.*557A>T) | |
| 1 | g.201078104T>C | CA344122918 | CACNA1S | c.1394A>G (p.Asp465Gly) c.*557A>G (n.*557A>G) | |
| 1 | g.201078104T>G | CA344122920 | CACNA1S | c.1394A>C (p.Asp465Ala) c.*557A>C (n.*557A>C) | |
| 1 | g.201078105C>A | CA344122921 | CACNA1S | c.1394-1G>T (n.1394-1G>T) c.*557-1G>T (n.*557-1G>T) | |
| 1 | g.201078105C>G | CA344122928 | CACNA1S | c.1394-1G>C (n.1394-1G>C) c.*557-1G>C (n.*557-1G>C) | |
| 1 | g.201078105C>T | CA344122923 | CACNA1S | c.1394-1G>A (n.1394-1G>A) c.*557-1G>A (n.*557-1G>A) | COSMIC |
| 1 | g.201078106T>A | CA344122930 | CACNA1S | c.1394-2A>T (n.1394-2A>T) c.*557-2A>T (n.*557-2A>T) | |
| 1 | g.201078106T>C | CA35979285 | CACNA1S | c.1394-2A>G (n.1394-2A>G) c.*557-2A>G (n.*557-2A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201078106T>G | CA344122933 | CACNA1S | c.1394-2A>C (n.1394-2A>C) c.*557-2A>C (n.*557-2A>C) | gnomAD v4 |
| 1 | g.201078106T= | CA1219585226 | CACNA1S | c.1394-2A= (n.1394-2A=) c.*557-2A= (n.*557-2A=) | |
| 1 | g.201078107G>A | CA2649763425 | CACNA1S | c.1394-3C>T (n.1394-3C>T) c.*557-3C>T (n.*557-3C>T) | gnomAD v4 |
| 1 | g.201078107G>C | CA2573976724 | CACNA1S | c.1394-3C>G (n.1394-3C>G) c.*557-3C>G (n.*557-3C>G) |