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.201077907G>A | CA078427 | CACNA1S | c.1591C>T (p.Arg531Cys) c.*754C>T (n.*754C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201077907G>C | CA344121183 | CACNA1S | c.1591C>G (p.Arg531Gly) c.*754C>G (n.*754C>G) | |
| 1 | g.201077907G= | CA1219585155 | CACNA1S | c.1591C= (p.Arg531=) c.*754C= (n.*754C=) | |
| 1 | g.201077907G>T | CA344121185 | CACNA1S | c.1591C>A (p.Arg531Ser) c.*754C>A (n.*754C>A) | COSMIC |
| 1 | g.201077908G>A | CA422814937 | CACNA1S | c.1590C>T (p.Ile530=) c.*753C>T (n.*753C>T) | |
| 1 | g.201077908G>C | CA344121193 | CACNA1S | c.1590C>G (p.Ile530Met) c.*753C>G (n.*753C>G) | |
| 1 | g.201077908G>T | CA422814938 | CACNA1S | c.1590C>A (p.Ile530=) c.*753C>A (n.*753C>A) | |
| 1 | g.201077909A>C | CA344121195 | CACNA1S | c.1589T>G (p.Ile530Ser) c.*752T>G (n.*752T>G) | |
| 1 | g.201077909A>G | CA344121197 | CACNA1S | c.1589T>C (p.Ile530Thr) c.*752T>C (n.*752T>C) | |
| 1 | g.201077909A>T | CA344121200 | CACNA1S | c.1589T>A (p.Ile530Asn) c.*752T>A (n.*752T>A) | |
| 1 | g.201077910T>A | CA344121202 | CACNA1S | c.1588A>T (p.Ile530Phe) c.*751A>T (n.*751A>T) | |
| 1 | g.201077910T>C | CA344121203 | CACNA1S | c.1588A>G (p.Ile530Val) c.*751A>G (n.*751A>G) | |
| 1 | g.201077910T>G | CA344121212 | CACNA1S | c.1588A>C (p.Ile530Leu) c.*751A>C (n.*751A>C) | |
| 1 | g.201077911G>A | CA078424 | CACNA1S | c.1587C>T (p.Cys529=) c.*750C>T (n.*750C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077911G>C | CA078422 | CACNA1S | c.1587C>G (p.Cys529Trp) c.*750C>G (n.*750C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077911G= | CA1219585156 | CACNA1S | c.1587C= (p.Cys529=) c.*750C= (n.*750C=) | |
| 1 | g.201077911G>T | CA344121214 | CACNA1S | c.1587C>A (p.Cys529Ter) c.*750C>A (n.*750C>A) | dbSNP |
| 1 | g.201077912C>A | CA004022 | CACNA1S | c.1586G>T (p.Cys529Phe) c.*749G>T (n.*749G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201077912C= | CA1148278466 | CACNA1S | c.1586G= (p.Cys529=) c.*749G= (n.*749G=) | |
| 1 | g.201077912C>G | CA344121219 | CACNA1S | c.1586G>C (p.Cys529Ser) c.*749G>C (n.*749G>C) | |
| 1 | g.201077912C>T | CA344121220 | CACNA1S | c.1586G>A (p.Cys529Tyr) c.*749G>A (n.*749G>A) | gnomAD v4 |
| 1 | g.201077913A= | CA1219585157 | CACNA1S | c.1585T= (p.Cys529=) c.*748T= (n.*748T=) | |
| 1 | g.201077913A>C | CA344121222 | CACNA1S | c.1585T>G (p.Cys529Gly) c.*748T>G (n.*748T>G) | |
| 1 | g.201077913A>G | CA344121223 | CACNA1S | c.1585T>C (p.Cys529Arg) c.*748T>C (n.*748T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201077913A>T | CA344121227 | CACNA1S | c.1585T>A (p.Cys529Ser) c.*748T>A (n.*748T>A) | COSMIC |
| 1 | g.201077914G>A | CA35978905 | CACNA1S | c.1584C>T (p.Arg528=) c.*747C>T (n.*747C>T) | dbSNP gnomAD v2 |
| 1 | g.201077914G>C | CA422814947 | CACNA1S | c.1584C>G (p.Arg528=) c.*747C>G (n.*747C>G) | |
| 1 | g.201077914G= | CA1141912985 | CACNA1S | c.1584C= (p.Arg528=) c.*747C= (n.*747C=) | |
| 1 | g.201077914G>T | CA422814949 | CACNA1S | c.1584C>A (p.Arg528=) c.*747C>A (n.*747C>A) | |
| 1 | g.201077915C>A | CA35978916 | CACNA1S | c.1583G>T (p.Arg528Leu) c.*746G>T (n.*746G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201077915C= | CA1141188104 | CACNA1S | c.1583G= (p.Arg528=) c.*746G= (n.*746G=) | |
| 1 | g.201077915C>G | CA344121231 | CACNA1S | c.1583G>C (p.Arg528Pro) c.*746G>C (n.*746G>C) | |
| 1 | g.201077915C>T | CA004021 | CACNA1S | c.1583G>A (p.Arg528His) c.*746G>A (n.*746G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201077916G>A | CA078419 | CACNA1S | c.1582C>T (p.Arg528Cys) c.*745C>T (n.*745C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077916G>C | CA004020 | CACNA1S | c.1582C>G (p.Arg528Gly) c.*745C>G (n.*745C>G) | ClinVar dbSNP |
| 1 | g.201077916G= | CA1141188105 | CACNA1S | c.1582C= (p.Arg528=) c.*745C= (n.*745C=) | |
| 1 | g.201077916G>T | CA344121244 | CACNA1S | c.1582C>A (p.Arg528Ser) c.*745C>A (n.*745C>A) | dbSNP |
| 1 | g.201077917G>A | CA422814955 | CACNA1S | c.1581C>T (p.Leu527=) c.*744C>T (n.*744C>T) | |
| 1 | g.201077917G>C | CA422814953 | CACNA1S | c.1581C>G (p.Leu527=) c.*744C>G (n.*744C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201077917G= | CA1219585158 | CACNA1S | c.1581C= (p.Leu527=) c.*744C= (n.*744C=) | |
| 1 | g.201077917G>T | CA422814957 | CACNA1S | c.1581C>A (p.Leu527=) c.*744C>A (n.*744C>A) | gnomAD v4 |
| 1 | g.201077918A>C | CA344121254 | CACNA1S | c.1580T>G (p.Leu527Arg) c.*743T>G (n.*743T>G) | |
| 1 | g.201077918A>G | CA344121257 | CACNA1S | c.1580T>C (p.Leu527Pro) c.*743T>C (n.*743T>C) | |
| 1 | g.201077918A>T | CA344121251 | CACNA1S | c.1580T>A (p.Leu527His) c.*743T>A (n.*743T>A) | |
| 1 | g.201077919G>A | CA078414 | CACNA1S | c.1579C>T (p.Leu527Phe) c.*742C>T (n.*742C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201077919G>C | CA344121263 | CACNA1S | c.1579C>G (p.Leu527Val) c.*742C>G (n.*742C>G) | |
| 1 | g.201077919G= | CA1219585159 | CACNA1S | c.1579C= (p.Leu527=) c.*742C= (n.*742C=) | |
| 1 | g.201077919G>T | CA344121260 | CACNA1S | c.1579C>A (p.Leu527Ile) c.*742C>A (n.*742C>A) | |
| 1 | g.201077920C>A | CA422814959 | CACNA1S | c.1578G>T (p.Val526=) c.*741G>T (n.*741G>T) | |
| 1 | g.201077920C>G | CA422814961 | CACNA1S | c.1578G>C (p.Val526=) c.*741G>C (n.*741G>C) | gnomAD v4 |
| 1 | g.201077920C>T | CA422814963 | CACNA1S | c.1578G>A (p.Val526=) c.*741G>A (n.*741G>A) | |
| 1 | g.201077921A>C | CA344121265 | CACNA1S | c.1577T>G (p.Val526Gly) c.*740T>G (n.*740T>G) | gnomAD v4 |
| 1 | g.201077921A>G | CA344121268 | CACNA1S | c.1577T>C (p.Val526Ala) c.*740T>C (n.*740T>C) | |
| 1 | g.201077921A>T | CA344121271 | CACNA1S | c.1577T>A (p.Val526Glu) c.*740T>A (n.*740T>A) | |
| 1 | g.201077922del | CA2649763418 | CACNA1S | c.1576del (p.Val526CysfsTer8) c.*739del (n.*739del) | gnomAD v4 |
| 1 | g.201077922C>A | CA344121283 | CACNA1S | c.1576G>T (p.Val526Leu) c.*739G>T (n.*739G>T) | |
| 1 | g.201077922C= | CA1146516716 | CACNA1S | c.1576G= (p.Val526=) c.*739G= (n.*739G=) | |
| 1 | g.201077922C>G | CA344121287 | CACNA1S | c.1576G>C (p.Val526Leu) c.*739G>C (n.*739G>C) | |
| 1 | g.201077922C>T | CA078411 | CACNA1S | c.1576G>A (p.Val526Met) c.*739G>A (n.*739G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077923G>A | CA078409 | CACNA1S | c.1575C>T (p.Ser525=) c.*738C>T (n.*738C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.201077923G>C | CA078407 | CACNA1S | c.1575C>G (p.Ser525=) c.*738C>G (n.*738C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201077923G= | CA1219585160 | CACNA1S | c.1575C= (p.Ser525=) c.*738C= (n.*738C=) | |
| 1 | g.201077923G>T | CA422814965 | CACNA1S | c.1575C>A (p.Ser525=) c.*738C>A (n.*738C>A) | |
| 1 | g.201077924G>A | CA344121293 | CACNA1S | c.1574C>T (p.Ser525Phe) c.*737C>T (n.*737C>T) | |
| 1 | g.201077924G>C | CA344121296 | CACNA1S | c.1574C>G (p.Ser525Cys) c.*737C>G (n.*737C>G) | |
| 1 | g.201077924G>T | CA344121297 | CACNA1S | c.1574C>A (p.Ser525Tyr) c.*737C>A (n.*737C>A) | |
| 1 | g.201077925A>C | CA344121305 | CACNA1S | c.1573T>G (p.Ser525Ala) c.*736T>G (n.*736T>G) | |
| 1 | g.201077925A>G | CA344121301 | CACNA1S | c.1573T>C (p.Ser525Pro) c.*736T>C (n.*736T>C) | gnomAD v4 |
| 1 | g.201077925A>T | CA344121302 | CACNA1S | c.1573T>A (p.Ser525Thr) c.*736T>A (n.*736T>A) | |
| 1 | g.201077926G>A | CA422814968 | CACNA1S | c.1572C>T (p.Ile524=) c.*735C>T (n.*735C>T) | |
| 1 | g.201077926G>C | CA344121307 | CACNA1S | c.1572C>G (p.Ile524Met) c.*735C>G (n.*735C>G) | |
| 1 | g.201077926G>T | CA422814967 | CACNA1S | c.1572C>A (p.Ile524=) c.*735C>A (n.*735C>A) | |
| 1 | g.201077927A= | CA1148398839 | CACNA1S | c.1571T= (p.Ile524=) c.*734T= (n.*734T=) | |
| 1 | g.201077927A>C | CA344121310 | CACNA1S | c.1571T>G (p.Ile524Ser) c.*734T>G (n.*734T>G) | |
| 1 | g.201077927A>G | CA078405 | CACNA1S | c.1571T>C (p.Ile524Thr) c.*734T>C (n.*734T>C) | dbSNP ExAC gnomAD v4 |
| 1 | g.201077927A>T | CA344121315 | CACNA1S | c.1571T>A (p.Ile524Asn) c.*734T>A (n.*734T>A) | |
| 1 | g.201077928T>A | CA344121318 | CACNA1S | c.1570A>T (p.Ile524Phe) c.*733A>T (n.*733A>T) | |
| 1 | g.201077928T>C | CA344121321 | CACNA1S | c.1570A>G (p.Ile524Val) c.*733A>G (n.*733A>G) | |
| 1 | g.201077928T>G | CA344121322 | CACNA1S | c.1570A>C (p.Ile524Leu) c.*733A>C (n.*733A>C) | |
| 1 | g.201077929G>A | CA422814974 | CACNA1S | c.1569C>T (p.Gly523=) c.*732C>T (n.*732C>T) | gnomAD v4 |
| 1 | g.201077929G>C | CA422814972 | CACNA1S | c.1569C>G (p.Gly523=) c.*732C>G (n.*732C>G) | |
| 1 | g.201077929G>T | CA422814973 | CACNA1S | c.1569C>A (p.Gly523=) c.*732C>A (n.*732C>A) | |
| 1 | g.201077930C>A | CA344121325 | CACNA1S | c.1568G>T (p.Gly523Val) c.*731G>T (n.*731G>T) | gnomAD v4 |
| 1 | g.201077930C>G | CA344121326 | CACNA1S | c.1568G>C (p.Gly523Ala) c.*731G>C (n.*731G>C) | |
| 1 | g.201077930C>T | CA344121327 | CACNA1S | c.1568G>A (p.Gly523Asp) c.*731G>A (n.*731G>A) | |
| 1 | g.201077931C>A | CA344121329 | CACNA1S | c.1567G>T (p.Gly523Cys) c.*730G>T (n.*730G>T) | |
| 1 | g.201077931C>G | CA344121332 | CACNA1S | c.1567G>C (p.Gly523Arg) c.*730G>C (n.*730G>C) | |
| 1 | g.201077931C>T | CA344121328 | CACNA1S | c.1567G>A (p.Gly523Ser) c.*730G>A (n.*730G>A) | |
| 1 | g.201077932C>A | CA422814975 | CACNA1S | c.1566G>T (p.Leu522=) c.*729G>T (n.*729G>T) | |
| 1 | g.201077932C= | CA1219585161 | CACNA1S | c.1566G= (p.Leu522=) c.*729G= (n.*729G=) | |
| 1 | g.201077932C>G | CA422814976 | CACNA1S | c.1566G>C (p.Leu522=) c.*729G>C (n.*729G>C) | |
| 1 | g.201077932C>T | CA422814977 | CACNA1S | c.1566G>A (p.Leu522=) c.*729G>A (n.*729G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201077933del | CA2649763419 | CACNA1S | c.1565del (p.Leu522ArgfsTer12) c.*728del (n.*728del) | gnomAD v4 |
| 1 | g.201077933A>C | CA344121338 | CACNA1S | c.1565T>G (p.Leu522Arg) c.*728T>G (n.*728T>G) | |
| 1 | g.201077933A>G | CA344121340 | CACNA1S | c.1565T>C (p.Leu522Pro) c.*728T>C (n.*728T>C) | |
| 1 | g.201077933A>T | CA344121343 | CACNA1S | c.1565T>A (p.Leu522Gln) c.*728T>A (n.*728T>A) | |
| 1 | g.201077934G>A | CA078403 | CACNA1S | c.1564C>T (p.Leu522=) c.*727C>T (n.*727C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077934G>C | CA344121351 | CACNA1S | c.1564C>G (p.Leu522Val) c.*727C>G (n.*727C>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201077934G= | CA1140048443 | CACNA1S | c.1564C= (p.Leu522=) c.*727C= (n.*727C=) | |
| 1 | g.201077934G>T | CA344121353 | CACNA1S | c.1564C>A (p.Leu522Met) c.*727C>A (n.*727C>A) | |
| 1 | g.201077935G>A | CA422814982 | CACNA1S | c.1563C>T (p.Pro521=) c.*726C>T (n.*726C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201077935G>C | CA422814981 | CACNA1S | c.1563C>G (p.Pro521=) c.*726C>G (n.*726C>G) | gnomAD v4 |
| 1 | g.201077935G= | CA1219585162 | CACNA1S | c.1563C= (p.Pro521=) c.*726C= (n.*726C=) | |
| 1 | g.201077935G>T | CA078401 | CACNA1S | c.1563C>A (p.Pro521=) c.*726C>A (n.*726C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201077936G>A | CA344121358 | CACNA1S | c.1562C>T (p.Pro521Leu) c.*725C>T (n.*725C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077936G>C | CA344121360 | CACNA1S | c.1562C>G (p.Pro521Arg) c.*725C>G (n.*725C>G) | |
| 1 | g.201077936G= | CA1219585163 | CACNA1S | c.1562C= (p.Pro521=) c.*725C= (n.*725C=) | |
| 1 | g.201077936G>T | CA344121363 | CACNA1S | c.1562C>A (p.Pro521His) c.*725C>A (n.*725C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077937G>A | CA344121368 | CACNA1S | c.1561C>T (p.Pro521Ser) c.*724C>T (n.*724C>T) | ClinVar gnomAD v4 COSMIC |
| 1 | g.201077937G>C | CA078400 | CACNA1S | c.1561C>G (p.Pro521Ala) c.*724C>G (n.*724C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201077937G= | CA1219585164 | CACNA1S | c.1561C= (p.Pro521=) c.*724C= (n.*724C=) | |
| 1 | g.201077937G>T | CA344121375 | CACNA1S | c.1561C>A (p.Pro521Thr) c.*724C>A (n.*724C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201077938T>A | CA422814984 | CACNA1S | c.1560A>T (p.Thr520=) c.*723A>T (n.*723A>T) | |
| 1 | g.201077938T>C | CA422814987 | CACNA1S | c.1560A>G (p.Thr520=) c.*723A>G (n.*723A>G) | |
| 1 | g.201077938T>G | CA422814986 | CACNA1S | c.1560A>C (p.Thr520=) c.*723A>C (n.*723A>C) | dbSNP |
| 1 | g.201077938T= | CA1219585165 | CACNA1S | c.1560A= (p.Thr520=) c.*723A= (n.*723A=) | |
| 1 | g.201077939G>A | CA344121379 | CACNA1S | c.1559C>T (p.Thr520Ile) c.*722C>T (n.*722C>T) | gnomAD v4 |
| 1 | g.201077939G>C | CA344121383 | CACNA1S | c.1559C>G (p.Thr520Arg) c.*722C>G (n.*722C>G) | |
| 1 | g.201077939G>T | CA344121381 | CACNA1S | c.1559C>A (p.Thr520Lys) c.*722C>A (n.*722C>A) | |
| 1 | g.201077940T>A | CA344121385 | CACNA1S | c.1558A>T (p.Thr520Ser) c.*721A>T (n.*721A>T) | |
| 1 | g.201077940T>C | CA344121387 | CACNA1S | c.1558A>G (p.Thr520Ala) c.*721A>G (n.*721A>G) | gnomAD v4 |
| 1 | g.201077940T>G | CA344121389 | CACNA1S | c.1558A>C (p.Thr520Pro) c.*721A>C (n.*721A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201077940T= | CA1219585166 | CACNA1S | c.1558A= (p.Thr520=) c.*721A= (n.*721A=) | |
| 1 | g.201077941C>A | CA344121390 | CACNA1S | c.1557G>T (p.Met519Ile) c.*720G>T (n.*720G>T) | |
| 1 | g.201077941C= | CA1143393663 | CACNA1S | c.1557G= (p.Met519=) c.*720G= (n.*720G=) | |
| 1 | g.201077941C>G | CA344121391 | CACNA1S | c.1557G>C (p.Met519Ile) c.*720G>C (n.*720G>C) | |
| 1 | g.201077941C>T | CA078399 | CACNA1S | c.1557G>A (p.Met519Ile) c.*720G>A (n.*720G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077942A>C | CA344121396 | CACNA1S | c.1556T>G (p.Met519Arg) c.*719T>G (n.*719T>G) | |
| 1 | g.201077942A>G | CA344121398 | CACNA1S | c.1556T>C (p.Met519Thr) c.*719T>C (n.*719T>C) | |
| 1 | g.201077942A>T | CA344121401 | CACNA1S | c.1556T>A (p.Met519Lys) c.*719T>A (n.*719T>A) | |
| 1 | g.201077943T>A | CA344121404 | CACNA1S | c.1555A>T (p.Met519Leu) c.*718A>T (n.*718A>T) | |
| 1 | g.201077943T>C | CA344121410 | CACNA1S | c.1555A>G (p.Met519Val) c.*718A>G (n.*718A>G) | dbSNP |
| 1 | g.201077943T>G | CA344121415 | CACNA1S | c.1555A>C (p.Met519Leu) c.*718A>C (n.*718A>C) | dbSNP |
| 1 | g.201077943T= | CA1219585167 | CACNA1S | c.1555A= (p.Met519=) c.*718A= (n.*718A=) | |
| 1 | g.201077944G>A | CA422814992 | CACNA1S | c.1554C>T (p.Ala518=) c.*717C>T (n.*717C>T) | |
| 1 | g.201077944G>C | CA422814995 | CACNA1S | c.1554C>G (p.Ala518=) c.*717C>G (n.*717C>G) | |
| 1 | g.201077944G>T | CA422814997 | CACNA1S | c.1554C>A (p.Ala518=) c.*717C>A (n.*717C>A) | |
| 1 | g.201077945G>A | CA344121426 | CACNA1S | c.1553C>T (p.Ala518Val) c.*716C>T (n.*716C>T) | |
| 1 | g.201077945G>C | CA344121420 | CACNA1S | c.1553C>G (p.Ala518Gly) c.*716C>G (n.*716C>G) | |
| 1 | g.201077945G>T | CA344121418 | CACNA1S | c.1553C>A (p.Ala518Asp) c.*716C>A (n.*716C>A) | |
| 1 | g.201077946C>A | CA078398 | CACNA1S | c.1552G>T (p.Ala518Ser) c.*715G>T (n.*715G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201077946C= | CA1219585168 | CACNA1S | c.1552G= (p.Ala518=) c.*715G= (n.*715G=) | |
| 1 | g.201077946C>G | CA344121429 | CACNA1S | c.1552G>C (p.Ala518Pro) c.*715G>C (n.*715G>C) | |
| 1 | g.201077946C>T | CA078396 | CACNA1S | c.1552G>A (p.Ala518Thr) c.*715G>A (n.*715G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077946_201077947delinsTG | CA2580061949 | CACNA1S | c.1551_1552delinsCA (p.Ala518Thr) c.*714_*715delinsCA (n.*714_*715delinsCA) | ClinVar |
| 1 | g.201077947A= | CA1140048445 | CACNA1S | c.1551T= (p.Gly517=) c.*714T= (n.*714T=) | |
| 1 | g.201077947A>C | CA422815002 | CACNA1S | c.1551T>G (p.Gly517=) c.*714T>G (n.*714T>G) | |
| 1 | g.201077947A>G | CA078394 | CACNA1S | c.1551T>C (p.Gly517=) c.*714T>C (n.*714T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077947A>T | CA422815003 | CACNA1S | c.1551T>A (p.Gly517=) c.*714T>A (n.*714T>A) | gnomAD v4 |
| 1 | g.201077948C>A | CA344121444 | CACNA1S | c.1550G>T (p.Gly517Val) c.*713G>T (n.*713G>T) | |
| 1 | g.201077948C>G | CA344121439 | CACNA1S | c.1550G>C (p.Gly517Ala) c.*713G>C (n.*713G>C) | |
| 1 | g.201077948C>T | CA344121441 | CACNA1S | c.1550G>A (p.Gly517Asp) c.*713G>A (n.*713G>A) | ClinVar dbSNP |
| 1 | g.201077948_201077951del | CA2606816869 | CACNA1S | c.1547_1550del (p.Ser516LeufsTer3) c.*710_*713del (n.*710_*713del) | gnomAD v3 gnomAD v4 |
| 1 | g.201077949C>A | CA344121448 | CACNA1S | c.1549G>T (p.Gly517Cys) c.*712G>T (n.*712G>T) | |
| 1 | g.201077949C>G | CA344121451 | CACNA1S | c.1549G>C (p.Gly517Arg) c.*712G>C (n.*712G>C) | |
| 1 | g.201077949C>T | CA344121453 | CACNA1S | c.1549G>A (p.Gly517Ser) c.*712G>A (n.*712G>A) | gnomAD v4 |
| 1 | g.201077950C>A | CA422815008 | CACNA1S | c.1548G>T (p.Ser516=) c.*711G>T (n.*711G>T) | |
| 1 | g.201077950C= | CA1140449886 | CACNA1S | c.1548G= (p.Ser516=) c.*711G= (n.*711G=) | |
| 1 | g.201077950C>G | CA422815009 | CACNA1S | c.1548G>C (p.Ser516=) c.*711G>C (n.*711G>C) | |
| 1 | g.201077950C>T | CA078391 | CACNA1S | c.1548G>A (p.Ser516=) c.*711G>A (n.*711G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077951G>A | CA078389 | CACNA1S | c.1547C>T (p.Ser516Leu) c.*710C>T (n.*710C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201077951G>C | CA078386 | CACNA1S | c.1547C>G (p.Ser516Trp) c.*710C>G (n.*710C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077951G= | CA1141757161 | CACNA1S | c.1547C= (p.Ser516=) c.*710C= (n.*710C=) | |
| 1 | g.201077951G>T | CA344121467 | CACNA1S | c.1547C>A (p.Ser516Ter) c.*710C>A (n.*710C>A) | dbSNP gnomAD v4 |
| 1 | g.201077952A>C | CA344121469 | CACNA1S | c.1546T>G (p.Ser516Ala) c.*709T>G (n.*709T>G) | |
| 1 | g.201077952A>G | CA344121471 | CACNA1S | c.1546T>C (p.Ser516Pro) c.*709T>C (n.*709T>C) | |
| 1 | g.201077952A>T | CA344121474 | CACNA1S | c.1546T>A (p.Ser516Thr) c.*709T>A (n.*709T>A) | |
| 1 | g.201077953C>A | CA344121479 | CACNA1S | c.1545G>T (p.Glu515Asp) c.*708G>T (n.*708G>T) | |
| 1 | g.201077953C>G | CA344121478 | CACNA1S | c.1545G>C (p.Glu515Asp) c.*708G>C (n.*708G>C) | |
| 1 | g.201077953C>T | CA422815014 | CACNA1S | c.1545G>A (p.Glu515=) c.*708G>A (n.*708G>A) | |
| 1 | g.201077954T>A | CA344121483 | CACNA1S | c.1544A>T (p.Glu515Val) c.*707A>T (n.*707A>T) | |
| 1 | g.201077954T>C | CA078384 | CACNA1S | c.1544A>G (p.Glu515Gly) c.*707A>G (n.*707A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201077954T>G | CA344121490 | CACNA1S | c.1544A>C (p.Glu515Ala) c.*707A>C (n.*707A>C) | |
| 1 | g.201077954T= | CA1219585169 | CACNA1S | c.1544A= (p.Glu515=) c.*707A= (n.*707A=) | |
| 1 | g.201077955C>A | CA344121493 | CACNA1S | c.1543G>T (p.Glu515Ter) c.*706G>T (n.*706G>T) | dbSNP |
| 1 | g.201077955C= | CA1219585170 | CACNA1S | c.1543G= (p.Glu515=) c.*706G= (n.*706G=) | |
| 1 | g.201077955C>G | CA344121494 | CACNA1S | c.1543G>C (p.Glu515Gln) c.*706G>C (n.*706G>C) | gnomAD v4 |
| 1 | g.201077955C>T | CA078382 | CACNA1S | c.1543G>A (p.Glu515Lys) c.*706G>A (n.*706G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201077956C>A | CA422815023 | CACNA1S | c.1542G>T (p.Val514=) c.*705G>T (n.*705G>T) | |
| 1 | g.201077956C>G | CA422815024 | CACNA1S | c.1542G>C (p.Val514=) c.*705G>C (n.*705G>C) | |
| 1 | g.201077956C>T | CA422815021 | CACNA1S | c.1542G>A (p.Val514=) c.*705G>A (n.*705G>A) | ClinVar |
| 1 | g.201077957A>C | CA344121497 | CACNA1S | c.1541T>G (p.Val514Gly) c.*704T>G (n.*704T>G) | |
| 1 | g.201077957A>G | CA344121499 | CACNA1S | c.1541T>C (p.Val514Ala) c.*704T>C (n.*704T>C) | |
| 1 | g.201077957A>T | CA344121502 | CACNA1S | c.1541T>A (p.Val514Glu) c.*704T>A (n.*704T>A) | |
| 1 | g.201077958C>A | CA344121506 | CACNA1S | c.1540G>T (p.Val514Leu) c.*703G>T (n.*703G>T) | |
| 1 | g.201077958C>G | CA344121508 | CACNA1S | c.1540G>C (p.Val514Leu) c.*703G>C (n.*703G>C) | |
| 1 | g.201077958C>T | CA344121511 | CACNA1S | c.1540G>A (p.Val514Met) c.*703G>A (n.*703G>A) | |
| 1 | g.201077959C>A | CA422815031 | CACNA1S | c.1539G>T (p.Leu513=) c.*702G>T (n.*702G>T) | |
| 1 | g.201077959C>G | CA422815034 | CACNA1S | c.1539G>C (p.Leu513=) c.*702G>C (n.*702G>C) | |
| 1 | g.201077959C>T | CA422815032 | CACNA1S | c.1539G>A (p.Leu513=) c.*702G>A (n.*702G>A) | |
| 1 | g.201077960A>C | CA344121516 | CACNA1S | c.1538T>G (p.Leu513Arg) c.*701T>G (n.*701T>G) | |
| 1 | g.201077960A>G | CA344121525 | CACNA1S | c.1538T>C (p.Leu513Pro) c.*701T>C (n.*701T>C) | |
| 1 | g.201077960A>T | CA344121515 | CACNA1S | c.1538T>A (p.Leu513Gln) c.*701T>A (n.*701T>A) | |
| 1 | g.201077961G>A | CA422815037 | CACNA1S | c.1537C>T (p.Leu513=) c.*700C>T (n.*700C>T) | dbSNP |
| 1 | g.201077961G>C | CA344121526 | CACNA1S | c.1537C>G (p.Leu513Val) c.*700C>G (n.*700C>G) | |
| 1 | g.201077961G= | CA1219585171 | CACNA1S | c.1537C= (p.Leu513=) c.*700C= (n.*700C=) | |
| 1 | g.201077961G>T | CA344121528 | CACNA1S | c.1537C>A (p.Leu513Met) c.*700C>A (n.*700C>A) | |
| 1 | g.201077962C>A | CA422815041 | CACNA1S | c.1536G>T (p.Leu512=) c.*699G>T (n.*699G>T) | ClinVar dbSNP |
| 1 | g.201077962C= | CA1219585172 | CACNA1S | c.1536G= (p.Leu512=) c.*699G= (n.*699G=) | |
| 1 | g.201077962C>G | CA422815038 | CACNA1S | c.1536G>C (p.Leu512=) c.*699G>C (n.*699G>C) | |
| 1 | g.201077962C>T | CA422815039 | CACNA1S | c.1536G>A (p.Leu512=) c.*699G>A (n.*699G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201077963A= | CA1219585173 | CACNA1S | c.1535T= (p.Leu512=) c.*698T= (n.*698T=) | |
| 1 | g.201077963A>C | CA344121533 | CACNA1S | c.1535T>G (p.Leu512Arg) c.*698T>G (n.*698T>G) | |
| 1 | g.201077963A>G | CA344121539 | CACNA1S | c.1535T>C (p.Leu512Pro) c.*698T>C (n.*698T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077963A>T | CA344121542 | CACNA1S | c.1535T>A (p.Leu512Gln) c.*698T>A (n.*698T>A) | |
| 1 | g.201077964G>A | CA422815042 | CACNA1S | c.1534C>T (p.Leu512=) c.*697C>T (n.*697C>T) | |
| 1 | g.201077964G>C | CA344121545 | CACNA1S | c.1534C>G (p.Leu512Val) c.*697C>G (n.*697C>G) | |
| 1 | g.201077964G>T | CA344121547 | CACNA1S | c.1534C>A (p.Leu512Met) c.*697C>A (n.*697C>A) | |
| 1 | g.201077965G>A | CA422815043 | CACNA1S | c.1533C>T (p.Ile511=) c.*696C>T (n.*696C>T) | |
| 1 | g.201077965G>C | CA344121556 | CACNA1S | c.1533C>G (p.Ile511Met) c.*696C>G (n.*696C>G) | |
| 1 | g.201077965G= | CA1219585174 | CACNA1S | c.1533C= (p.Ile511=) c.*696C= (n.*696C=) | |
| 1 | g.201077965G>T | CA078374 | CACNA1S | c.1533C>A (p.Ile511=) c.*696C>A (n.*696C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201077966A>C | CA344121562 | CACNA1S | c.1532T>G (p.Ile511Ser) c.*695T>G (n.*695T>G) | |
| 1 | g.201077966A>G | CA344121566 | CACNA1S | c.1532T>C (p.Ile511Thr) c.*695T>C (n.*695T>C) | gnomAD v4 |
| 1 | g.201077966A>T | CA344121568 | CACNA1S | c.1532T>A (p.Ile511Asn) c.*695T>A (n.*695T>A) | |
| 1 | g.201077967T>A | CA344121573 | CACNA1S | c.1531A>T (p.Ile511Phe) c.*694A>T (n.*694A>T) | |
| 1 | g.201077967T>C | CA344121576 | CACNA1S | c.1531A>G (p.Ile511Val) c.*694A>G (n.*694A>G) | |
| 1 | g.201077967T>G | CA078364 | CACNA1S | c.1531A>C (p.Ile511Leu) c.*694A>C (n.*694A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201077967T= | CA1148717226 | CACNA1S | c.1531A= (p.Ile511=) c.*694A= (n.*694A=) | |
| 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) | 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) |