WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13259569C>A | CA404339206 | CACNA1A | c.4383G>T (p.Trp1461Cys) c.4389G>T (p.Trp1463Cys) n.3137G>T c.4386G>T (p.Trp1462Cys) n.372G>T n.875G>T n.1071G>T n.666G>T n.849G>T c.39G>T (p.Trp13Cys) c.4395G>T (p.Trp1465Cys) n.705G>T c.4245G>T (p.Trp1415Cys) c.4581G>T (p.Trp1527Cys) c.441G>T (p.Trp147Cys) | gnomAD v4 |
| 19 | g.13259569C= | CA2323807474 | CACNA1A | c.4383G= (p.Trp1461=) c.4389G= (p.Trp1463=) n.3137G= c.4386G= (p.Trp1462=) n.372G= n.875G= n.1071G= n.666G= n.849G= c.39G= (p.Trp13=) c.4395G= (p.Trp1465=) n.705G= c.4245G= (p.Trp1415=) c.4581G= (p.Trp1527=) c.441G= (p.Trp147=) | |
| 19 | g.13259569C>G | CA404339207 | CACNA1A | c.4383G>C (p.Trp1461Cys) c.4389G>C (p.Trp1463Cys) n.3137G>C c.4386G>C (p.Trp1462Cys) n.372G>C n.875G>C n.1071G>C n.666G>C n.849G>C c.39G>C (p.Trp13Cys) c.4395G>C (p.Trp1465Cys) n.705G>C c.4245G>C (p.Trp1415Cys) c.4581G>C (p.Trp1527Cys) c.441G>C (p.Trp147Cys) | gnomAD v4 |
| 19 | g.13259569C>T | CA16043172 | CACNA1A | c.4383G>A (p.Trp1461Ter) c.4389G>A (p.Trp1463Ter) n.3137G>A c.4386G>A (p.Trp1462Ter) n.372G>A n.875G>A n.1071G>A n.666G>A n.849G>A c.39G>A (p.Trp13Ter) c.4395G>A (p.Trp1465Ter) n.705G>A c.4245G>A (p.Trp1415Ter) c.4581G>A (p.Trp1527Ter) c.441G>A (p.Trp147Ter) | ClinVar dbSNP |
| 19 | g.13259570C>A | CA404339208 | CACNA1A | c.4382G>T (p.Trp1461Leu) c.4388G>T (p.Trp1463Leu) n.3136G>T c.4385G>T (p.Trp1462Leu) n.371G>T n.874G>T n.1070G>T n.665G>T n.848G>T c.38G>T (p.Trp13Leu) c.4394G>T (p.Trp1465Leu) n.704G>T c.4244G>T (p.Trp1415Leu) c.4580G>T (p.Trp1527Leu) c.440G>T (p.Trp147Leu) | gnomAD v4 |
| 19 | g.13259570C= | CA2323807475 | CACNA1A | c.4382G= (p.Trp1461=) c.4388G= (p.Trp1463=) n.3136G= c.4385G= (p.Trp1462=) n.371G= n.874G= n.1070G= n.665G= n.848G= c.38G= (p.Trp13=) c.4394G= (p.Trp1465=) n.704G= c.4244G= (p.Trp1415=) c.4580G= (p.Trp1527=) c.440G= (p.Trp147=) | |
| 19 | g.13259570C>G | CA404339209 | CACNA1A | c.4382G>C (p.Trp1461Ser) c.4388G>C (p.Trp1463Ser) n.3136G>C c.4385G>C (p.Trp1462Ser) n.371G>C n.874G>C n.1070G>C n.665G>C n.848G>C c.38G>C (p.Trp13Ser) c.4394G>C (p.Trp1465Ser) n.704G>C c.4244G>C (p.Trp1415Ser) c.4580G>C (p.Trp1527Ser) c.440G>C (p.Trp147Ser) | |
| 19 | g.13259570C>T | CA404339210 | CACNA1A | c.4382G>A (p.Trp1461Ter) c.4388G>A (p.Trp1463Ter) n.3136G>A c.4385G>A (p.Trp1462Ter) n.371G>A n.874G>A n.1070G>A n.665G>A n.848G>A c.38G>A (p.Trp13Ter) c.4394G>A (p.Trp1465Ter) n.704G>A c.4244G>A (p.Trp1415Ter) c.4580G>A (p.Trp1527Ter) c.440G>A (p.Trp147Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13259571A>C | CA404339211 | CACNA1A | c.4381T>G (p.Trp1461Gly) c.4387T>G (p.Trp1463Gly) n.3135T>G c.4384T>G (p.Trp1462Gly) n.370T>G n.873T>G n.1069T>G n.664T>G n.847T>G c.37T>G (p.Trp13Gly) c.4393T>G (p.Trp1465Gly) n.703T>G c.4243T>G (p.Trp1415Gly) c.4579T>G (p.Trp1527Gly) c.439T>G (p.Trp147Gly) | |
| 19 | g.13259571A>G | CA404339212 | CACNA1A | c.4381T>C (p.Trp1461Arg) c.4387T>C (p.Trp1463Arg) n.3135T>C c.4384T>C (p.Trp1462Arg) n.370T>C n.873T>C n.1069T>C n.664T>C n.847T>C c.37T>C (p.Trp13Arg) c.4393T>C (p.Trp1465Arg) n.703T>C c.4243T>C (p.Trp1415Arg) c.4579T>C (p.Trp1527Arg) c.439T>C (p.Trp147Arg) | |
| 19 | g.13259571A>T | CA404339213 | CACNA1A | c.4381T>A (p.Trp1461Arg) c.4387T>A (p.Trp1463Arg) n.3135T>A c.4384T>A (p.Trp1462Arg) n.370T>A n.873T>A n.1069T>A n.664T>A n.847T>A c.37T>A (p.Trp13Arg) c.4393T>A (p.Trp1465Arg) n.703T>A c.4243T>A (p.Trp1415Arg) c.4579T>A (p.Trp1527Arg) c.439T>A (p.Trp147Arg) | |
| 19 | g.13259572G>A | CA505659729 | CACNA1A | c.4380C>T (p.Gly1460=) c.4386C>T (p.Gly1462=) n.3134C>T c.4383C>T (p.Gly1461=) n.369C>T n.872C>T n.1068C>T n.663C>T n.846C>T c.36C>T (p.Gly12=) c.4392C>T (p.Gly1464=) n.702C>T c.4242C>T (p.Gly1414=) c.4578C>T (p.Gly1526=) c.438C>T (p.Gly146=) | |
| 19 | g.13259572G>C | CA505659731 | CACNA1A | c.4380C>G (p.Gly1460=) c.4386C>G (p.Gly1462=) n.3134C>G c.4383C>G (p.Gly1461=) n.369C>G n.872C>G n.1068C>G n.663C>G n.846C>G c.36C>G (p.Gly12=) c.4392C>G (p.Gly1464=) n.702C>G c.4242C>G (p.Gly1414=) c.4578C>G (p.Gly1526=) c.438C>G (p.Gly146=) | |
| 19 | g.13259572G>T | CA505659732 | CACNA1A | c.4380C>A (p.Gly1460=) c.4386C>A (p.Gly1462=) n.3134C>A c.4383C>A (p.Gly1461=) n.369C>A n.872C>A n.1068C>A n.663C>A n.846C>A c.36C>A (p.Gly12=) c.4392C>A (p.Gly1464=) n.702C>A c.4242C>A (p.Gly1414=) c.4578C>A (p.Gly1526=) c.438C>A (p.Gly146=) | |
| 19 | g.13259573C>A | CA404339216 | CACNA1A | c.4379G>T (p.Gly1460Val) c.4385G>T (p.Gly1462Val) n.3133G>T c.4382G>T (p.Gly1461Val) n.368G>T n.871G>T n.1067G>T n.662G>T n.845G>T c.35G>T (p.Gly12Val) c.4391G>T (p.Gly1464Val) n.701G>T c.4241G>T (p.Gly1414Val) c.4577G>T (p.Gly1526Val) c.437G>T (p.Gly146Val) | gnomAD v4 |
| 19 | g.13259573C>G | CA404339214 | CACNA1A | c.4379G>C (p.Gly1460Ala) c.4385G>C (p.Gly1462Ala) n.3133G>C c.4382G>C (p.Gly1461Ala) n.368G>C n.871G>C n.1067G>C n.662G>C n.845G>C c.35G>C (p.Gly12Ala) c.4391G>C (p.Gly1464Ala) n.701G>C c.4241G>C (p.Gly1414Ala) c.4577G>C (p.Gly1526Ala) c.437G>C (p.Gly146Ala) | |
| 19 | g.13259573C>T | CA404339215 | CACNA1A | c.4379G>A (p.Gly1460Asp) c.4385G>A (p.Gly1462Asp) n.3133G>A c.4382G>A (p.Gly1461Asp) n.368G>A n.871G>A n.1067G>A n.662G>A n.845G>A c.35G>A (p.Gly12Asp) c.4391G>A (p.Gly1464Asp) n.701G>A c.4241G>A (p.Gly1414Asp) c.4577G>A (p.Gly1526Asp) c.437G>A (p.Gly146Asp) | |
| 19 | g.13259574C>A | CA404339217 | CACNA1A | c.4378G>T (p.Gly1460Cys) c.4384G>T (p.Gly1462Cys) n.3132G>T c.4381G>T (p.Gly1461Cys) n.367G>T n.870G>T n.1066G>T n.661G>T n.844G>T c.34G>T (p.Gly12Cys) c.4390G>T (p.Gly1464Cys) n.700G>T c.4240G>T (p.Gly1414Cys) c.4576G>T (p.Gly1526Cys) c.436G>T (p.Gly146Cys) | |
| 19 | g.13259574C>G | CA404339218 | CACNA1A | c.4378G>C (p.Gly1460Arg) c.4384G>C (p.Gly1462Arg) n.3132G>C c.4381G>C (p.Gly1461Arg) n.367G>C n.870G>C n.1066G>C n.661G>C n.844G>C c.34G>C (p.Gly12Arg) c.4390G>C (p.Gly1464Arg) n.700G>C c.4240G>C (p.Gly1414Arg) c.4576G>C (p.Gly1526Arg) c.436G>C (p.Gly146Arg) | |
| 19 | g.13259574C>T | CA404339219 | CACNA1A | c.4378G>A (p.Gly1460Ser) c.4384G>A (p.Gly1462Ser) n.3132G>A c.4381G>A (p.Gly1461Ser) n.367G>A n.870G>A n.1066G>A n.661G>A n.844G>A c.34G>A (p.Gly12Ser) c.4390G>A (p.Gly1464Ser) n.700G>A c.4240G>A (p.Gly1414Ser) c.4576G>A (p.Gly1526Ser) c.436G>A (p.Gly146Ser) | |
| 19 | g.13259575T>A | CA404339220 | CACNA1A | c.4377A>T (p.Glu1459Asp) c.4383A>T (p.Glu1461Asp) n.3131A>T c.4380A>T (p.Glu1460Asp) n.366A>T n.869A>T n.1065A>T n.660A>T n.843A>T c.33A>T (p.Glu11Asp) c.4389A>T (p.Glu1463Asp) n.699A>T c.4239A>T (p.Glu1413Asp) c.4575A>T (p.Glu1525Asp) c.435A>T (p.Glu145Asp) | |
| 19 | g.13259575T>C | CA505659734 | CACNA1A | c.4377A>G (p.Glu1459=) c.4383A>G (p.Glu1461=) n.3131A>G c.4380A>G (p.Glu1460=) n.366A>G n.869A>G n.1065A>G n.660A>G n.843A>G c.33A>G (p.Glu11=) c.4389A>G (p.Glu1463=) n.699A>G c.4239A>G (p.Glu1413=) c.4575A>G (p.Glu1525=) c.435A>G (p.Glu145=) | |
| 19 | g.13259575T>G | CA404339221 | CACNA1A | c.4377A>C (p.Glu1459Asp) c.4383A>C (p.Glu1461Asp) n.3131A>C c.4380A>C (p.Glu1460Asp) n.366A>C n.869A>C n.1065A>C n.660A>C n.843A>C c.33A>C (p.Glu11Asp) c.4389A>C (p.Glu1463Asp) n.699A>C c.4239A>C (p.Glu1413Asp) c.4575A>C (p.Glu1525Asp) c.435A>C (p.Glu145Asp) | |
| 19 | g.13259576T>A | CA404339222 | CACNA1A | c.4376A>T (p.Glu1459Val) c.4382A>T (p.Glu1461Val) n.3130A>T c.4379A>T (p.Glu1460Val) n.365A>T n.868A>T n.1064A>T n.659A>T n.842A>T c.32A>T (p.Glu11Val) c.4388A>T (p.Glu1463Val) n.698A>T c.4238A>T (p.Glu1413Val) c.4574A>T (p.Glu1525Val) c.434A>T (p.Glu145Val) | |
| 19 | g.13259576T>C | CA404339224 | CACNA1A | c.4376A>G (p.Glu1459Gly) c.4382A>G (p.Glu1461Gly) n.3130A>G c.4379A>G (p.Glu1460Gly) n.365A>G n.868A>G n.1064A>G n.659A>G n.842A>G c.32A>G (p.Glu11Gly) c.4388A>G (p.Glu1463Gly) n.698A>G c.4238A>G (p.Glu1413Gly) c.4574A>G (p.Glu1525Gly) c.434A>G (p.Glu145Gly) | |
| 19 | g.13259576T>G | CA404339223 | CACNA1A | c.4376A>C (p.Glu1459Ala) c.4382A>C (p.Glu1461Ala) n.3130A>C c.4379A>C (p.Glu1460Ala) n.365A>C n.868A>C n.1064A>C n.659A>C n.842A>C c.32A>C (p.Glu11Ala) c.4388A>C (p.Glu1463Ala) n.698A>C c.4238A>C (p.Glu1413Ala) c.4574A>C (p.Glu1525Ala) c.434A>C (p.Glu145Ala) | |
| 19 | g.13259577C>A | CA404339225 | CACNA1A | c.4375G>T (p.Glu1459Ter) c.4381G>T (p.Glu1461Ter) n.3129G>T c.4378G>T (p.Glu1460Ter) n.364G>T n.867G>T n.1063G>T n.658G>T n.841G>T c.31G>T (p.Glu11Ter) c.4387G>T (p.Glu1463Ter) n.697G>T c.4237G>T (p.Glu1413Ter) c.4573G>T (p.Glu1525Ter) c.433G>T (p.Glu145Ter) | |
| 19 | g.13259577C>G | CA404339227 | CACNA1A | c.4375G>C (p.Glu1459Gln) c.4381G>C (p.Glu1461Gln) n.3129G>C c.4378G>C (p.Glu1460Gln) n.364G>C n.867G>C n.1063G>C n.658G>C n.841G>C c.31G>C (p.Glu11Gln) c.4387G>C (p.Glu1463Gln) n.697G>C c.4237G>C (p.Glu1413Gln) c.4573G>C (p.Glu1525Gln) c.433G>C (p.Glu145Gln) | |
| 19 | g.13259577C>T | CA404339226 | CACNA1A | c.4375G>A (p.Glu1459Lys) c.4381G>A (p.Glu1461Lys) n.3129G>A c.4378G>A (p.Glu1460Lys) n.364G>A n.867G>A n.1063G>A n.658G>A n.841G>A c.31G>A (p.Glu11Lys) c.4387G>A (p.Glu1463Lys) n.697G>A c.4237G>A (p.Glu1413Lys) c.4573G>A (p.Glu1525Lys) c.433G>A (p.Glu145Lys) | |
| 19 | g.13259578T>A | CA505659735 | CACNA1A | c.4374A>T (p.Gly1458=) c.4380A>T (p.Gly1460=) n.3128A>T c.4377A>T (p.Gly1459=) n.363A>T n.866A>T n.1062A>T n.657A>T n.840A>T c.30A>T (p.Gly10=) c.4386A>T (p.Gly1462=) n.696A>T c.4236A>T (p.Gly1412=) c.4572A>T (p.Gly1524=) c.432A>T (p.Gly144=) | |
| 19 | g.13259578T>C | CA505659737 | CACNA1A | c.4374A>G (p.Gly1458=) c.4380A>G (p.Gly1460=) n.3128A>G c.4377A>G (p.Gly1459=) n.363A>G n.866A>G n.1062A>G n.657A>G n.840A>G c.30A>G (p.Gly10=) c.4386A>G (p.Gly1462=) n.696A>G c.4236A>G (p.Gly1412=) c.4572A>G (p.Gly1524=) c.432A>G (p.Gly144=) | gnomAD v4 |
| 19 | g.13259578T>G | CA505659738 | CACNA1A | c.4374A>C (p.Gly1458=) c.4380A>C (p.Gly1460=) n.3128A>C c.4377A>C (p.Gly1459=) n.363A>C n.866A>C n.1062A>C n.657A>C n.840A>C c.30A>C (p.Gly10=) c.4386A>C (p.Gly1462=) n.696A>C c.4236A>C (p.Gly1412=) c.4572A>C (p.Gly1524=) c.432A>C (p.Gly144=) | |
| 19 | g.13259579C>A | CA404339228 | CACNA1A | c.4373G>T (p.Gly1458Val) c.4379G>T (p.Gly1460Val) n.3127G>T c.4376G>T (p.Gly1459Val) n.362G>T n.865G>T n.1061G>T n.656G>T n.839G>T c.29G>T (p.Gly10Val) c.4385G>T (p.Gly1462Val) n.695G>T c.4235G>T (p.Gly1412Val) c.4571G>T (p.Gly1524Val) c.431G>T (p.Gly144Val) | |
| 19 | g.13259579C= | CA2323807476 | CACNA1A | c.4373G= (p.Gly1458=) c.4379G= (p.Gly1460=) n.3127G= c.4376G= (p.Gly1459=) n.362G= n.865G= n.1061G= n.656G= n.839G= c.29G= (p.Gly10=) c.4385G= (p.Gly1462=) n.695G= c.4235G= (p.Gly1412=) c.4571G= (p.Gly1524=) c.431G= (p.Gly144=) | |
| 19 | g.13259579C>G | CA404339229 | CACNA1A | c.4373G>C (p.Gly1458Ala) c.4379G>C (p.Gly1460Ala) n.3127G>C c.4376G>C (p.Gly1459Ala) n.362G>C n.865G>C n.1061G>C n.656G>C n.839G>C c.29G>C (p.Gly10Ala) c.4385G>C (p.Gly1462Ala) n.695G>C c.4235G>C (p.Gly1412Ala) c.4571G>C (p.Gly1524Ala) c.431G>C (p.Gly144Ala) | |
| 19 | g.13259579C>T | CA404339230 | CACNA1A | c.4373G>A (p.Gly1458Glu) c.4379G>A (p.Gly1460Glu) n.3127G>A c.4376G>A (p.Gly1459Glu) n.362G>A n.865G>A n.1061G>A n.656G>A n.839G>A c.29G>A (p.Gly10Glu) c.4385G>A (p.Gly1462Glu) n.695G>A c.4235G>A (p.Gly1412Glu) c.4571G>A (p.Gly1524Glu) c.431G>A (p.Gly144Glu) | dbSNP gnomAD v2 |
| 19 | g.13259580C>A | CA404339231 | CACNA1A | c.4372G>T (p.Gly1458Ter) c.4378G>T (p.Gly1460Ter) n.3126G>T c.4375G>T (p.Gly1459Ter) n.361G>T n.864G>T n.1060G>T n.655G>T n.838G>T c.28G>T (p.Gly10Ter) c.4384G>T (p.Gly1462Ter) n.694G>T c.4234G>T (p.Gly1412Ter) c.4570G>T (p.Gly1524Ter) c.430G>T (p.Gly144Ter) | gnomAD v4 |
| 19 | g.13259580C>G | CA404339232 | CACNA1A | c.4372G>C (p.Gly1458Arg) c.4378G>C (p.Gly1460Arg) n.3126G>C c.4375G>C (p.Gly1459Arg) n.361G>C n.864G>C n.1060G>C n.655G>C n.838G>C c.28G>C (p.Gly10Arg) c.4384G>C (p.Gly1462Arg) n.694G>C c.4234G>C (p.Gly1412Arg) c.4570G>C (p.Gly1524Arg) c.430G>C (p.Gly144Arg) | |
| 19 | g.13259580C>T | CA404339233 | CACNA1A | c.4372G>A (p.Gly1458Arg) c.4378G>A (p.Gly1460Arg) n.3126G>A c.4375G>A (p.Gly1459Arg) n.361G>A n.864G>A n.1060G>A n.655G>A n.838G>A c.28G>A (p.Gly10Arg) c.4384G>A (p.Gly1462Arg) n.694G>A c.4234G>A (p.Gly1412Arg) c.4570G>A (p.Gly1524Arg) c.430G>A (p.Gly144Arg) | gnomAD v4 |
| 19 | g.13259581C>A | CA505659739 | CACNA1A | c.4371G>T (p.Thr1457=) c.4377G>T (p.Thr1459=) n.3125G>T c.4374G>T (p.Thr1458=) n.360G>T n.863G>T n.1059G>T n.654G>T n.837G>T c.27G>T (p.Thr9=) c.4383G>T (p.Thr1461=) n.693G>T c.4233G>T (p.Thr1411=) c.4569G>T (p.Thr1523=) c.429G>T (p.Thr143=) | gnomAD v4 |
| 19 | g.13259581C= | CA2323807477 | CACNA1A | c.4371G= (p.Thr1457=) c.4377G= (p.Thr1459=) n.3125G= c.4374G= (p.Thr1458=) n.360G= n.863G= n.1059G= n.654G= n.837G= c.27G= (p.Thr9=) c.4383G= (p.Thr1461=) n.693G= c.4233G= (p.Thr1411=) c.4569G= (p.Thr1523=) c.429G= (p.Thr143=) | |
| 19 | g.13259581C>G | CA505659740 | CACNA1A | c.4371G>C (p.Thr1457=) c.4377G>C (p.Thr1459=) n.3125G>C c.4374G>C (p.Thr1458=) n.360G>C n.863G>C n.1059G>C n.654G>C n.837G>C c.27G>C (p.Thr9=) c.4383G>C (p.Thr1461=) n.693G>C c.4233G>C (p.Thr1411=) c.4569G>C (p.Thr1523=) c.429G>C (p.Thr143=) | |
| 19 | g.13259581C>T | CA9240028 | CACNA1A | c.4371G>A (p.Thr1457=) c.4377G>A (p.Thr1459=) n.3125G>A c.4374G>A (p.Thr1458=) n.360G>A n.863G>A n.1059G>A n.654G>A n.837G>A c.27G>A (p.Thr9=) c.4383G>A (p.Thr1461=) n.693G>A c.4233G>A (p.Thr1411=) c.4569G>A (p.Thr1523=) c.429G>A (p.Thr143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13259582G>A | CA404339234 | CACNA1A | c.4370C>T (p.Thr1457Met) c.4376C>T (p.Thr1459Met) n.3124C>T c.4373C>T (p.Thr1458Met) n.359C>T n.862C>T n.1058C>T n.653C>T n.836C>T c.26C>T (p.Thr9Met) c.4382C>T (p.Thr1461Met) n.692C>T c.4232C>T (p.Thr1411Met) c.4568C>T (p.Thr1523Met) c.428C>T (p.Thr143Met) | ClinVar dbSNP gnomAD v4 |
| 19 | g.13259582G>C | CA404339235 | CACNA1A | c.4370C>G (p.Thr1457Arg) c.4376C>G (p.Thr1459Arg) n.3124C>G c.4373C>G (p.Thr1458Arg) n.359C>G n.862C>G n.1058C>G n.653C>G n.836C>G c.26C>G (p.Thr9Arg) c.4382C>G (p.Thr1461Arg) n.692C>G c.4232C>G (p.Thr1411Arg) c.4568C>G (p.Thr1523Arg) c.428C>G (p.Thr143Arg) | |
| 19 | g.13259582G= | CA2323807478 | CACNA1A | c.4370C= (p.Thr1457=) c.4376C= (p.Thr1459=) n.3124C= c.4373C= (p.Thr1458=) n.359C= n.862C= n.1058C= n.653C= n.836C= c.26C= (p.Thr9=) c.4382C= (p.Thr1461=) n.692C= c.4232C= (p.Thr1411=) c.4568C= (p.Thr1523=) c.428C= (p.Thr143=) | |
| 19 | g.13259582G>T | CA404339236 | CACNA1A | c.4370C>A (p.Thr1457Lys) c.4376C>A (p.Thr1459Lys) n.3124C>A c.4373C>A (p.Thr1458Lys) n.359C>A n.862C>A n.1058C>A n.653C>A n.836C>A c.26C>A (p.Thr9Lys) c.4382C>A (p.Thr1461Lys) n.692C>A c.4232C>A (p.Thr1411Lys) c.4568C>A (p.Thr1523Lys) c.428C>A (p.Thr143Lys) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13259583T>A | CA404339237 | CACNA1A | c.4369A>T (p.Thr1457Ser) c.4375A>T (p.Thr1459Ser) n.3123A>T c.4372A>T (p.Thr1458Ser) n.358A>T n.861A>T n.1057A>T n.652A>T n.835A>T c.25A>T (p.Thr9Ser) c.4381A>T (p.Thr1461Ser) n.691A>T c.4231A>T (p.Thr1411Ser) c.4567A>T (p.Thr1523Ser) c.427A>T (p.Thr143Ser) | |
| 19 | g.13259583T>C | CA404339238 | CACNA1A | c.4369A>G (p.Thr1457Ala) c.4375A>G (p.Thr1459Ala) n.3123A>G c.4372A>G (p.Thr1458Ala) n.358A>G n.861A>G n.1057A>G n.652A>G n.835A>G c.25A>G (p.Thr9Ala) c.4381A>G (p.Thr1461Ala) n.691A>G c.4231A>G (p.Thr1411Ala) c.4567A>G (p.Thr1523Ala) c.427A>G (p.Thr143Ala) | |
| 19 | g.13259583T>G | CA404339239 | CACNA1A | c.4369A>C (p.Thr1457Pro) c.4375A>C (p.Thr1459Pro) n.3123A>C c.4372A>C (p.Thr1458Pro) n.358A>C n.861A>C n.1057A>C n.652A>C n.835A>C c.25A>C (p.Thr9Pro) c.4381A>C (p.Thr1461Pro) n.691A>C c.4231A>C (p.Thr1411Pro) c.4567A>C (p.Thr1523Pro) c.427A>C (p.Thr143Pro) |