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 |
|---|---|---|---|---|---|
| 19 | g.13235666C>A | CA404336780 | CACNA1A | c.5015G>T (p.Arg1672Leu) c.5021G>T (p.Arg1674Leu) c.434G>T n.239G>T c.176G>T (p.Arg59Leu) n.220G>T c.5018G>T (p.Arg1673Leu) n.1004G>T c.330G>T c.5024G>T (p.Arg1675Leu) c.311G>T (p.Arg104Leu) c.5033G>T (p.Arg1678Leu) c.4877G>T (p.Arg1626Leu) c.275G>T n.408G>T c.419G>T (p.Arg140Leu) n.9G>T c.5219G>T (p.Arg1740Leu) c.1073G>T (p.Arg358Leu) c.476G>T (p.Arg159Leu) | |
| 19 | g.13235666C= | CA2323795776 | CACNA1A | c.5015G= (p.Arg1672=) c.5021G= (p.Arg1674=) c.434G= n.239G= c.176G= (p.Arg59=) n.220G= c.5018G= (p.Arg1673=) n.1004G= c.330G= c.5024G= (p.Arg1675=) c.311G= (p.Arg104=) c.5033G= (p.Arg1678=) c.4877G= (p.Arg1626=) c.275G= n.408G= c.419G= (p.Arg140=) n.9G= c.5219G= (p.Arg1740=) c.1073G= (p.Arg358=) c.476G= (p.Arg159=) | |
| 19 | g.13235666C>G | CA16044236 | CACNA1A | c.5015G>C (p.Arg1672Pro) c.5021G>C (p.Arg1674Pro) c.434G>C n.239G>C c.176G>C (p.Arg59Pro) n.220G>C c.5018G>C (p.Arg1673Pro) n.1004G>C c.330G>C c.5024G>C (p.Arg1675Pro) c.311G>C (p.Arg104Pro) c.5033G>C (p.Arg1678Pro) c.4877G>C (p.Arg1626Pro) c.275G>C n.408G>C c.419G>C (p.Arg140Pro) n.9G>C c.5219G>C (p.Arg1740Pro) c.1073G>C (p.Arg358Pro) c.476G>C (p.Arg159Pro) | ClinVar dbSNP |
| 19 | g.13235666C>T | CA404336785 | CACNA1A | c.5015G>A (p.Arg1672His) c.5021G>A (p.Arg1674His) c.434G>A n.239G>A c.176G>A (p.Arg59His) n.220G>A c.5018G>A (p.Arg1673His) n.1004G>A c.330G>A c.5024G>A (p.Arg1675His) c.311G>A (p.Arg104His) c.5033G>A (p.Arg1678His) c.4877G>A (p.Arg1626His) c.275G>A n.408G>A c.419G>A (p.Arg140His) n.9G>A c.5219G>A (p.Arg1740His) c.1073G>A (p.Arg358His) c.476G>A (p.Arg159His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13235666dup | CA2573156109 | CACNA1A | c.5015dup (p.Gln1673SerfsTer?) c.5021dup (p.Gln1675SerfsTer?) c.434dup n.239dup c.176dup (p.Gln60SerfsTer?) n.220dup c.5018dup (p.Gln1674SerfsTer?) n.1004dup c.330dup c.176dup (p.Gln60SerfsTer21) c.5024dup (p.Gln1676SerfsTer?) c.311dup (p.Gln105SerfsTer?) c.5033dup (p.Gln1679SerfsTer?) c.4877dup (p.Gln1627SerfsTer?) c.275dup n.408dup c.419dup (p.Gln141SerfsTer?) n.9dup c.5219dup (p.Gln1741SerfsTer?) c.1073dup (p.Gln359SerfsTer?) c.476dup (p.Gln160SerfsTer?) | ClinVar dbSNP |
| 19 | g.13235667G>A | CA244130 | CACNA1A | c.5014C>T (p.Arg1672Cys) c.5020C>T (p.Arg1674Cys) c.433C>T n.238C>T c.175C>T (p.Arg59Cys) n.219C>T c.5017C>T (p.Arg1673Cys) n.1003C>T c.329C>T c.5023C>T (p.Arg1675Cys) c.310C>T (p.Arg104Cys) c.5032C>T (p.Arg1678Cys) c.4876C>T (p.Arg1626Cys) c.274C>T n.407C>T c.418C>T (p.Arg140Cys) n.8C>T c.5218C>T (p.Arg1740Cys) c.1072C>T (p.Arg358Cys) c.475C>T (p.Arg159Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13235667G>C | CA404336796 | CACNA1A | c.5014C>G (p.Arg1672Gly) c.5020C>G (p.Arg1674Gly) c.433C>G n.238C>G c.175C>G (p.Arg59Gly) n.219C>G c.5017C>G (p.Arg1673Gly) n.1003C>G c.329C>G c.5023C>G (p.Arg1675Gly) c.310C>G (p.Arg104Gly) c.5032C>G (p.Arg1678Gly) c.4876C>G (p.Arg1626Gly) c.274C>G n.407C>G c.418C>G (p.Arg140Gly) n.8C>G c.5218C>G (p.Arg1740Gly) c.1072C>G (p.Arg358Gly) c.475C>G (p.Arg159Gly) | |
| 19 | g.13235667G= | CA2323795777 | CACNA1A | c.5014C= (p.Arg1672=) c.5020C= (p.Arg1674=) c.433C= n.238C= c.175C= (p.Arg59=) n.219C= c.5017C= (p.Arg1673=) n.1003C= c.329C= c.5023C= (p.Arg1675=) c.310C= (p.Arg104=) c.5032C= (p.Arg1678=) c.4876C= (p.Arg1626=) c.274C= n.407C= c.418C= (p.Arg140=) n.8C= c.5218C= (p.Arg1740=) c.1072C= (p.Arg358=) c.475C= (p.Arg159=) | |
| 19 | g.13235667G>T | CA404336798 | CACNA1A | c.5014C>A (p.Arg1672Ser) c.5020C>A (p.Arg1674Ser) c.433C>A n.238C>A c.175C>A (p.Arg59Ser) n.219C>A c.5017C>A (p.Arg1673Ser) n.1003C>A c.329C>A c.5023C>A (p.Arg1675Ser) c.310C>A (p.Arg104Ser) c.5032C>A (p.Arg1678Ser) c.4876C>A (p.Arg1626Ser) c.274C>A n.407C>A c.418C>A (p.Arg140Ser) n.8C>A c.5218C>A (p.Arg1740Ser) c.1072C>A (p.Arg358Ser) c.475C>A (p.Arg159Ser) | COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13235668G>A | CA505658779 | CACNA1A | c.5013C>T (p.Leu1671=) c.5019C>T (p.Leu1673=) c.432C>T n.237C>T c.174C>T (p.Leu58=) n.218C>T c.5016C>T (p.Leu1672=) n.1002C>T c.328C>T c.5022C>T (p.Leu1674=) c.309C>T (p.Leu103=) c.5031C>T (p.Leu1677=) c.4875C>T (p.Leu1625=) c.273C>T n.406C>T c.417C>T (p.Leu139=) n.7C>T c.5217C>T (p.Leu1739=) c.1071C>T (p.Leu357=) c.474C>T (p.Leu158=) | |
| 19 | g.13235668G>C | CA505658780 | CACNA1A | c.5013C>G (p.Leu1671=) c.5019C>G (p.Leu1673=) c.432C>G n.237C>G c.174C>G (p.Leu58=) n.218C>G c.5016C>G (p.Leu1672=) n.1002C>G c.328C>G c.5022C>G (p.Leu1674=) c.309C>G (p.Leu103=) c.5031C>G (p.Leu1677=) c.4875C>G (p.Leu1625=) c.273C>G n.406C>G c.417C>G (p.Leu139=) n.7C>G c.5217C>G (p.Leu1739=) c.1071C>G (p.Leu357=) c.474C>G (p.Leu158=) | |
| 19 | g.13235668G>T | CA505658781 | CACNA1A | c.5013C>A (p.Leu1671=) c.5019C>A (p.Leu1673=) c.432C>A n.237C>A c.174C>A (p.Leu58=) n.218C>A c.5016C>A (p.Leu1672=) n.1002C>A c.328C>A c.5022C>A (p.Leu1674=) c.309C>A (p.Leu103=) c.5031C>A (p.Leu1677=) c.4875C>A (p.Leu1625=) c.273C>A n.406C>A c.417C>A (p.Leu139=) n.7C>A c.5217C>A (p.Leu1739=) c.1071C>A (p.Leu357=) c.474C>A (p.Leu158=) | |
| 19 | g.13235669A>C | CA404336801 | CACNA1A | c.5012T>G (p.Leu1671Arg) c.5018T>G (p.Leu1673Arg) c.431T>G n.236T>G c.173T>G (p.Leu58Arg) n.217T>G c.5015T>G (p.Leu1672Arg) n.1001T>G c.327T>G c.5021T>G (p.Leu1674Arg) c.308T>G (p.Leu103Arg) c.5030T>G (p.Leu1677Arg) c.4874T>G (p.Leu1625Arg) c.272T>G n.405T>G c.416T>G (p.Leu139Arg) n.6T>G c.5216T>G (p.Leu1739Arg) c.1070T>G (p.Leu357Arg) c.473T>G (p.Leu158Arg) | |
| 19 | g.13235669A>G | CA404336804 | CACNA1A | c.5012T>C (p.Leu1671Pro) c.5018T>C (p.Leu1673Pro) c.431T>C n.236T>C c.173T>C (p.Leu58Pro) n.217T>C c.5015T>C (p.Leu1672Pro) n.1001T>C c.327T>C c.5021T>C (p.Leu1674Pro) c.308T>C (p.Leu103Pro) c.5030T>C (p.Leu1677Pro) c.4874T>C (p.Leu1625Pro) c.272T>C n.405T>C c.416T>C (p.Leu139Pro) n.6T>C c.5216T>C (p.Leu1739Pro) c.1070T>C (p.Leu357Pro) c.473T>C (p.Leu158Pro) | |
| 19 | g.13235669A>T | CA404336807 | CACNA1A | c.5012T>A (p.Leu1671His) c.5018T>A (p.Leu1673His) c.431T>A n.236T>A c.173T>A (p.Leu58His) n.217T>A c.5015T>A (p.Leu1672His) n.1001T>A c.327T>A c.5021T>A (p.Leu1674His) c.308T>A (p.Leu103His) c.5030T>A (p.Leu1677His) c.4874T>A (p.Leu1625His) c.272T>A n.405T>A c.416T>A (p.Leu139His) n.6T>A c.5216T>A (p.Leu1739His) c.1070T>A (p.Leu357His) c.473T>A (p.Leu158His) | |
| 19 | g.13235670G>A | CA404336813 | CACNA1A | c.5011C>T (p.Leu1671Phe) c.5017C>T (p.Leu1673Phe) c.430C>T n.235C>T c.172C>T (p.Leu58Phe) n.216C>T c.5014C>T (p.Leu1672Phe) n.1000C>T c.326C>T c.5020C>T (p.Leu1674Phe) c.307C>T (p.Leu103Phe) c.5029C>T (p.Leu1677Phe) c.4873C>T (p.Leu1625Phe) c.271C>T n.404C>T c.415C>T (p.Leu139Phe) n.5C>T c.5215C>T (p.Leu1739Phe) c.1069C>T (p.Leu357Phe) c.472C>T (p.Leu158Phe) | |
| 19 | g.13235670G>C | CA404336815 | CACNA1A | c.5011C>G (p.Leu1671Val) c.5017C>G (p.Leu1673Val) c.430C>G n.235C>G c.172C>G (p.Leu58Val) n.216C>G c.5014C>G (p.Leu1672Val) n.1000C>G c.326C>G c.5020C>G (p.Leu1674Val) c.307C>G (p.Leu103Val) c.5029C>G (p.Leu1677Val) c.4873C>G (p.Leu1625Val) c.271C>G n.404C>G c.415C>G (p.Leu139Val) n.5C>G c.5215C>G (p.Leu1739Val) c.1069C>G (p.Leu357Val) c.472C>G (p.Leu158Val) | |
| 19 | g.13235670G>T | CA404336810 | CACNA1A | c.5011C>A (p.Leu1671Ile) c.5017C>A (p.Leu1673Ile) c.430C>A n.235C>A c.172C>A (p.Leu58Ile) n.216C>A c.5014C>A (p.Leu1672Ile) n.1000C>A c.326C>A c.5020C>A (p.Leu1674Ile) c.307C>A (p.Leu103Ile) c.5029C>A (p.Leu1677Ile) c.4873C>A (p.Leu1625Ile) c.271C>A n.404C>A c.415C>A (p.Leu139Ile) n.5C>A c.5215C>A (p.Leu1739Ile) c.1069C>A (p.Leu357Ile) c.472C>A (p.Leu158Ile) | |
| 19 | g.13235671A>C | CA505658782 | CACNA1A | c.5010T>G (p.Leu1670=) c.5016T>G (p.Leu1672=) c.429T>G n.234T>G c.171T>G (p.Leu57=) n.215T>G c.5013T>G (p.Leu1671=) n.999T>G c.325T>G c.5019T>G (p.Leu1673=) c.306T>G (p.Leu102=) c.5028T>G (p.Leu1676=) c.4872T>G (p.Leu1624=) c.270T>G n.403T>G c.414T>G (p.Leu138=) n.4T>G c.5214T>G (p.Leu1738=) c.1068T>G (p.Leu356=) c.471T>G (p.Leu157=) | |
| 19 | g.13235671A>G | CA505658783 | CACNA1A | c.5010T>C (p.Leu1670=) c.5016T>C (p.Leu1672=) c.429T>C n.234T>C c.171T>C (p.Leu57=) n.215T>C c.5013T>C (p.Leu1671=) n.999T>C c.325T>C c.5019T>C (p.Leu1673=) c.306T>C (p.Leu102=) c.5028T>C (p.Leu1676=) c.4872T>C (p.Leu1624=) c.270T>C n.403T>C c.414T>C (p.Leu138=) n.4T>C c.5214T>C (p.Leu1738=) c.1068T>C (p.Leu356=) c.471T>C (p.Leu157=) | |
| 19 | g.13235671A>T | CA505658784 | CACNA1A | c.5010T>A (p.Leu1670=) c.5016T>A (p.Leu1672=) c.429T>A n.234T>A c.171T>A (p.Leu57=) n.215T>A c.5013T>A (p.Leu1671=) n.999T>A c.325T>A c.5019T>A (p.Leu1673=) c.306T>A (p.Leu102=) c.5028T>A (p.Leu1676=) c.4872T>A (p.Leu1624=) c.270T>A n.403T>A c.414T>A (p.Leu138=) n.4T>A c.5214T>A (p.Leu1738=) c.1068T>A (p.Leu356=) c.471T>A (p.Leu157=) | gnomAD v4 |
| 19 | g.13235672A>C | CA404336816 | CACNA1A | c.5009T>G (p.Leu1670Arg) c.5015T>G (p.Leu1672Arg) c.428T>G n.233T>G c.170T>G (p.Leu57Arg) n.214T>G c.5012T>G (p.Leu1671Arg) n.998T>G c.324T>G c.5018T>G (p.Leu1673Arg) c.305T>G (p.Leu102Arg) c.5027T>G (p.Leu1676Arg) c.4871T>G (p.Leu1624Arg) c.269T>G n.402T>G c.413T>G (p.Leu138Arg) n.3T>G c.5213T>G (p.Leu1738Arg) c.1067T>G (p.Leu356Arg) c.470T>G (p.Leu157Arg) | ClinVar |
| 19 | g.13235672A>G | CA404336819 | CACNA1A | c.5009T>C (p.Leu1670Pro) c.5015T>C (p.Leu1672Pro) c.428T>C n.233T>C c.170T>C (p.Leu57Pro) n.214T>C c.5012T>C (p.Leu1671Pro) n.998T>C c.324T>C c.5018T>C (p.Leu1673Pro) c.305T>C (p.Leu102Pro) c.5027T>C (p.Leu1676Pro) c.4871T>C (p.Leu1624Pro) c.269T>C n.402T>C c.413T>C (p.Leu138Pro) n.3T>C c.5213T>C (p.Leu1738Pro) c.1067T>C (p.Leu356Pro) c.470T>C (p.Leu157Pro) | |
| 19 | g.13235672A>T | CA404336822 | CACNA1A | c.5009T>A (p.Leu1670His) c.5015T>A (p.Leu1672His) c.428T>A n.233T>A c.170T>A (p.Leu57His) n.214T>A c.5012T>A (p.Leu1671His) n.998T>A c.324T>A c.5018T>A (p.Leu1673His) c.305T>A (p.Leu102His) c.5027T>A (p.Leu1676His) c.4871T>A (p.Leu1624His) c.269T>A n.402T>A c.413T>A (p.Leu138His) n.3T>A c.5213T>A (p.Leu1738His) c.1067T>A (p.Leu356His) c.470T>A (p.Leu157His) | |
| 19 | g.13235673G>A | CA404336824 | CACNA1A | c.5008C>T (p.Leu1670Phe) c.5014C>T (p.Leu1672Phe) c.427C>T n.232C>T c.169C>T (p.Leu57Phe) n.213C>T c.5011C>T (p.Leu1671Phe) n.997C>T c.323C>T c.5017C>T (p.Leu1673Phe) c.304C>T (p.Leu102Phe) c.5026C>T (p.Leu1676Phe) c.4870C>T (p.Leu1624Phe) c.268C>T n.401C>T c.412C>T (p.Leu138Phe) n.2C>T c.5212C>T (p.Leu1738Phe) c.1066C>T (p.Leu356Phe) c.469C>T (p.Leu157Phe) | |
| 19 | g.13235673G>C | CA404336825 | CACNA1A | c.5008C>G (p.Leu1670Val) c.5014C>G (p.Leu1672Val) c.427C>G n.232C>G c.169C>G (p.Leu57Val) n.213C>G c.5011C>G (p.Leu1671Val) n.997C>G c.323C>G c.5017C>G (p.Leu1673Val) c.304C>G (p.Leu102Val) c.5026C>G (p.Leu1676Val) c.4870C>G (p.Leu1624Val) c.268C>G n.401C>G c.412C>G (p.Leu138Val) n.2C>G c.5212C>G (p.Leu1738Val) c.1066C>G (p.Leu356Val) c.469C>G (p.Leu157Val) | |
| 19 | g.13235673G= | CA2323795778 | CACNA1A | c.5008C= (p.Leu1670=) c.5014C= (p.Leu1672=) c.427C= n.232C= c.169C= (p.Leu57=) n.213C= c.5011C= (p.Leu1671=) n.997C= c.323C= c.5017C= (p.Leu1673=) c.304C= (p.Leu102=) c.5026C= (p.Leu1676=) c.4870C= (p.Leu1624=) c.268C= n.401C= c.412C= (p.Leu138=) n.2C= c.5212C= (p.Leu1738=) c.1066C= (p.Leu356=) c.469C= (p.Leu157=) | |
| 19 | g.13235673G>T | CA404336829 | CACNA1A | c.5008C>A (p.Leu1670Ile) c.5014C>A (p.Leu1672Ile) c.427C>A n.232C>A c.169C>A (p.Leu57Ile) n.213C>A c.5011C>A (p.Leu1671Ile) n.997C>A c.323C>A c.5017C>A (p.Leu1673Ile) c.304C>A (p.Leu102Ile) c.5026C>A (p.Leu1676Ile) c.4870C>A (p.Leu1624Ile) c.268C>A n.401C>A c.412C>A (p.Leu138Ile) n.2C>A c.5212C>A (p.Leu1738Ile) c.1066C>A (p.Leu356Ile) c.469C>A (p.Leu157Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13235674T>A | CA404336837 | CACNA1A | c.5007A>T (p.Lys1669Asn) c.5013A>T (p.Lys1671Asn) c.426A>T n.231A>T c.168A>T (p.Lys56Asn) n.212A>T c.5010A>T (p.Lys1670Asn) n.996A>T c.322A>T c.5016A>T (p.Lys1672Asn) c.303A>T (p.Lys101Asn) c.5025A>T (p.Lys1675Asn) c.4869A>T (p.Lys1623Asn) c.267A>T n.400A>T c.411A>T (p.Lys137Asn) n.1A>T c.5211A>T (p.Lys1737Asn) c.1065A>T (p.Lys355Asn) c.468A>T (p.Lys156Asn) | |
| 19 | g.13235674T>C | CA505658785 | CACNA1A | c.5007A>G (p.Lys1669=) c.5013A>G (p.Lys1671=) c.426A>G n.231A>G c.168A>G (p.Lys56=) n.212A>G c.5010A>G (p.Lys1670=) n.996A>G c.322A>G c.5016A>G (p.Lys1672=) c.303A>G (p.Lys101=) c.5025A>G (p.Lys1675=) c.4869A>G (p.Lys1623=) c.267A>G n.400A>G c.411A>G (p.Lys137=) n.1A>G c.5211A>G (p.Lys1737=) c.1065A>G (p.Lys355=) c.468A>G (p.Lys156=) | |
| 19 | g.13235674T>G | CA404336832 | CACNA1A | c.5007A>C (p.Lys1669Asn) c.5013A>C (p.Lys1671Asn) c.426A>C n.231A>C c.168A>C (p.Lys56Asn) n.212A>C c.5010A>C (p.Lys1670Asn) n.996A>C c.322A>C c.5016A>C (p.Lys1672Asn) c.303A>C (p.Lys101Asn) c.5025A>C (p.Lys1675Asn) c.4869A>C (p.Lys1623Asn) c.267A>C n.400A>C c.411A>C (p.Lys137Asn) n.1A>C c.5211A>C (p.Lys1737Asn) c.1065A>C (p.Lys355Asn) c.468A>C (p.Lys156Asn) | |
| 19 | g.13235675T>A | CA404336842 | CACNA1A | c.5006A>T (p.Lys1669Ile) c.5012A>T (p.Lys1671Ile) c.425A>T n.230A>T c.167A>T (p.Lys56Ile) n.211A>T c.5009A>T (p.Lys1670Ile) n.995A>T c.321A>T c.5015A>T (p.Lys1672Ile) c.302A>T (p.Lys101Ile) c.5024A>T (p.Lys1675Ile) c.4868A>T (p.Lys1623Ile) c.266A>T n.399A>T c.410A>T (p.Lys137Ile) c.5210A>T (p.Lys1737Ile) c.1064A>T (p.Lys355Ile) c.467A>T (p.Lys156Ile) | |
| 19 | g.13235675T>C | CA404336845 | CACNA1A | c.5006A>G (p.Lys1669Arg) c.5012A>G (p.Lys1671Arg) c.425A>G n.230A>G c.167A>G (p.Lys56Arg) n.211A>G c.5009A>G (p.Lys1670Arg) n.995A>G c.321A>G c.5015A>G (p.Lys1672Arg) c.302A>G (p.Lys101Arg) c.5024A>G (p.Lys1675Arg) c.4868A>G (p.Lys1623Arg) c.266A>G n.399A>G c.410A>G (p.Lys137Arg) c.5210A>G (p.Lys1737Arg) c.1064A>G (p.Lys355Arg) c.467A>G (p.Lys156Arg) | |
| 19 | g.13235675T>G | CA404336848 | CACNA1A | c.5006A>C (p.Lys1669Thr) c.5012A>C (p.Lys1671Thr) c.425A>C n.230A>C c.167A>C (p.Lys56Thr) n.211A>C c.5009A>C (p.Lys1670Thr) n.995A>C c.321A>C c.5015A>C (p.Lys1672Thr) c.302A>C (p.Lys101Thr) c.5024A>C (p.Lys1675Thr) c.4868A>C (p.Lys1623Thr) c.266A>C n.399A>C c.410A>C (p.Lys137Thr) c.5210A>C (p.Lys1737Thr) c.1064A>C (p.Lys355Thr) c.467A>C (p.Lys156Thr) | |
| 19 | g.13235676T>A | CA404336853 | CACNA1A | c.5005A>T (p.Lys1669Ter) c.5011A>T (p.Lys1671Ter) c.424A>T n.229A>T c.166A>T (p.Lys56Ter) n.210A>T c.5008A>T (p.Lys1670Ter) n.994A>T c.320A>T c.5014A>T (p.Lys1672Ter) c.301A>T (p.Lys101Ter) c.5023A>T (p.Lys1675Ter) c.4867A>T (p.Lys1623Ter) c.265A>T n.398A>T c.409A>T (p.Lys137Ter) c.5209A>T (p.Lys1737Ter) c.1063A>T (p.Lys355Ter) c.466A>T (p.Lys156Ter) | |
| 19 | g.13235676T>C | CA404336858 | CACNA1A | c.5005A>G (p.Lys1669Glu) c.5011A>G (p.Lys1671Glu) c.424A>G n.229A>G c.166A>G (p.Lys56Glu) n.210A>G c.5008A>G (p.Lys1670Glu) n.994A>G c.320A>G c.5014A>G (p.Lys1672Glu) c.301A>G (p.Lys101Glu) c.5023A>G (p.Lys1675Glu) c.4867A>G (p.Lys1623Glu) c.265A>G n.398A>G c.409A>G (p.Lys137Glu) c.5209A>G (p.Lys1737Glu) c.1063A>G (p.Lys355Glu) c.466A>G (p.Lys156Glu) | |
| 19 | g.13235676T>G | CA404336860 | CACNA1A | c.5005A>C (p.Lys1669Gln) c.5011A>C (p.Lys1671Gln) c.424A>C n.229A>C c.166A>C (p.Lys56Gln) n.210A>C c.5008A>C (p.Lys1670Gln) n.994A>C c.320A>C c.5014A>C (p.Lys1672Gln) c.301A>C (p.Lys101Gln) c.5023A>C (p.Lys1675Gln) c.4867A>C (p.Lys1623Gln) c.265A>C n.398A>C c.409A>C (p.Lys137Gln) c.5209A>C (p.Lys1737Gln) c.1063A>C (p.Lys355Gln) c.466A>C (p.Lys156Gln) | |
| 19 | g.13235677G>A | CA505658786 | CACNA1A | c.5004C>T (p.Ile1668=) c.5010C>T (p.Ile1670=) c.423C>T n.228C>T c.165C>T (p.Ile55=) n.209C>T c.5007C>T (p.Ile1669=) n.993C>T c.319C>T c.5013C>T (p.Ile1671=) c.300C>T (p.Ile100=) c.5022C>T (p.Ile1674=) c.4866C>T (p.Ile1622=) c.264C>T n.397C>T c.408C>T (p.Ile136=) c.5208C>T (p.Ile1736=) c.1062C>T (p.Ile354=) c.465C>T (p.Ile155=) | |
| 19 | g.13235677G>C | CA404336864 | CACNA1A | c.5004C>G (p.Ile1668Met) c.5010C>G (p.Ile1670Met) c.423C>G n.228C>G c.165C>G (p.Ile55Met) n.209C>G c.5007C>G (p.Ile1669Met) n.993C>G c.319C>G c.5013C>G (p.Ile1671Met) c.300C>G (p.Ile100Met) c.5022C>G (p.Ile1674Met) c.4866C>G (p.Ile1622Met) c.264C>G n.397C>G c.408C>G (p.Ile136Met) c.5208C>G (p.Ile1736Met) c.1062C>G (p.Ile354Met) c.465C>G (p.Ile155Met) | |
| 19 | g.13235677G>T | CA505658787 | CACNA1A | c.5004C>A (p.Ile1668=) c.5010C>A (p.Ile1670=) c.423C>A n.228C>A c.165C>A (p.Ile55=) n.209C>A c.5007C>A (p.Ile1669=) n.993C>A c.319C>A c.5013C>A (p.Ile1671=) c.300C>A (p.Ile100=) c.5022C>A (p.Ile1674=) c.4866C>A (p.Ile1622=) c.264C>A n.397C>A c.408C>A (p.Ile136=) c.5208C>A (p.Ile1736=) c.1062C>A (p.Ile354=) c.465C>A (p.Ile155=) | |
| 19 | g.13235678A>C | CA404336868 | CACNA1A | c.5003T>G (p.Ile1668Ser) c.5009T>G (p.Ile1670Ser) c.422T>G n.227T>G c.164T>G (p.Ile55Ser) n.208T>G c.5006T>G (p.Ile1669Ser) n.992T>G c.318T>G c.5012T>G (p.Ile1671Ser) c.299T>G (p.Ile100Ser) c.5021T>G (p.Ile1674Ser) c.4865T>G (p.Ile1622Ser) c.263T>G n.396T>G c.407T>G (p.Ile136Ser) c.5207T>G (p.Ile1736Ser) c.1061T>G (p.Ile354Ser) c.464T>G (p.Ile155Ser) | |
| 19 | g.13235678A>G | CA404336875 | CACNA1A | c.5003T>C (p.Ile1668Thr) c.5009T>C (p.Ile1670Thr) c.422T>C n.227T>C c.164T>C (p.Ile55Thr) n.208T>C c.5006T>C (p.Ile1669Thr) n.992T>C c.318T>C c.5012T>C (p.Ile1671Thr) c.299T>C (p.Ile100Thr) c.5021T>C (p.Ile1674Thr) c.4865T>C (p.Ile1622Thr) c.263T>C n.396T>C c.407T>C (p.Ile136Thr) c.5207T>C (p.Ile1736Thr) c.1061T>C (p.Ile354Thr) c.464T>C (p.Ile155Thr) | |
| 19 | g.13235678A>T | CA404336870 | CACNA1A | c.5003T>A (p.Ile1668Asn) c.5009T>A (p.Ile1670Asn) c.422T>A n.227T>A c.164T>A (p.Ile55Asn) n.208T>A c.5006T>A (p.Ile1669Asn) n.992T>A c.318T>A c.5012T>A (p.Ile1671Asn) c.299T>A (p.Ile100Asn) c.5021T>A (p.Ile1674Asn) c.4865T>A (p.Ile1622Asn) c.263T>A n.396T>A c.407T>A (p.Ile136Asn) c.5207T>A (p.Ile1736Asn) c.1061T>A (p.Ile354Asn) c.464T>A (p.Ile155Asn) | |
| 19 | g.13235679T>A | CA404336877 | CACNA1A | c.5002A>T (p.Ile1668Phe) c.5008A>T (p.Ile1670Phe) c.421A>T n.226A>T c.163A>T (p.Ile55Phe) n.207A>T c.5005A>T (p.Ile1669Phe) n.991A>T c.317A>T c.5011A>T (p.Ile1671Phe) c.298A>T (p.Ile100Phe) c.5020A>T (p.Ile1674Phe) c.4864A>T (p.Ile1622Phe) c.262A>T n.395A>T c.406A>T (p.Ile136Phe) c.5206A>T (p.Ile1736Phe) c.1060A>T (p.Ile354Phe) c.463A>T (p.Ile155Phe) | |
| 19 | g.13235679T>C | CA9239856 | CACNA1A | c.5002A>G (p.Ile1668Val) c.5008A>G (p.Ile1670Val) c.421A>G n.226A>G c.163A>G (p.Ile55Val) n.207A>G c.5005A>G (p.Ile1669Val) n.991A>G c.317A>G c.5011A>G (p.Ile1671Val) c.298A>G (p.Ile100Val) c.5020A>G (p.Ile1674Val) c.4864A>G (p.Ile1622Val) c.262A>G n.395A>G c.406A>G (p.Ile136Val) c.5206A>G (p.Ile1736Val) c.1060A>G (p.Ile354Val) c.463A>G (p.Ile155Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13235679T>G | CA404336881 | CACNA1A | c.5002A>C (p.Ile1668Leu) c.5008A>C (p.Ile1670Leu) c.421A>C n.226A>C c.163A>C (p.Ile55Leu) n.207A>C c.5005A>C (p.Ile1669Leu) n.991A>C c.317A>C c.5011A>C (p.Ile1671Leu) c.298A>C (p.Ile100Leu) c.5020A>C (p.Ile1674Leu) c.4864A>C (p.Ile1622Leu) c.262A>C n.395A>C c.406A>C (p.Ile136Leu) c.5206A>C (p.Ile1736Leu) c.1060A>C (p.Ile354Leu) c.463A>C (p.Ile155Leu) | |
| 19 | g.13235679T= | CA2323795779 | CACNA1A | c.5002A= (p.Ile1668=) c.5008A= (p.Ile1670=) c.421A= n.226A= c.163A= (p.Ile55=) n.207A= c.5005A= (p.Ile1669=) n.991A= c.317A= c.5011A= (p.Ile1671=) c.298A= (p.Ile100=) c.5020A= (p.Ile1674=) c.4864A= (p.Ile1622=) c.262A= n.395A= c.406A= (p.Ile136=) c.5206A= (p.Ile1736=) c.1060A= (p.Ile354=) c.463A= (p.Ile155=) | |
| 19 | g.13235680G>A | CA9239857 | CACNA1A | c.5001C>T (p.Leu1667=) c.5007C>T (p.Leu1669=) c.420C>T n.225C>T c.162C>T (p.Leu54=) n.206C>T c.5004C>T (p.Leu1668=) n.990C>T c.316C>T c.5010C>T (p.Leu1670=) c.297C>T (p.Leu99=) c.5019C>T (p.Leu1673=) c.4863C>T (p.Leu1621=) c.261C>T n.394C>T c.405C>T (p.Leu135=) c.5205C>T (p.Leu1735=) c.1059C>T (p.Leu353=) c.462C>T (p.Leu154=) | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.13235680G>C | CA505658788 | CACNA1A | c.5001C>G (p.Leu1667=) c.5007C>G (p.Leu1669=) c.420C>G n.225C>G c.162C>G (p.Leu54=) n.206C>G c.5004C>G (p.Leu1668=) n.990C>G c.316C>G c.5010C>G (p.Leu1670=) c.297C>G (p.Leu99=) c.5019C>G (p.Leu1673=) c.4863C>G (p.Leu1621=) c.261C>G n.394C>G c.405C>G (p.Leu135=) c.5205C>G (p.Leu1735=) c.1059C>G (p.Leu353=) c.462C>G (p.Leu154=) | |
| 19 | g.13235680G= | CA2323795780 | CACNA1A | c.5001C= (p.Leu1667=) c.5007C= (p.Leu1669=) c.420C= n.225C= c.162C= (p.Leu54=) n.206C= c.5004C= (p.Leu1668=) n.990C= c.316C= c.5010C= (p.Leu1670=) c.297C= (p.Leu99=) c.5019C= (p.Leu1673=) c.4863C= (p.Leu1621=) c.261C= n.394C= c.405C= (p.Leu135=) c.5205C= (p.Leu1735=) c.1059C= (p.Leu353=) c.462C= (p.Leu154=) |