| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13235211G>A | CA404335800 | CACNA1A | c.5131C>T (p.Gln1711Ter) c.5137C>T (p.Gln1713Ter) c.550C>T n.355C>T c.292C>T (p.Gln98Ter) n.336C>T c.5134C>T (p.Gln1712Ter) n.1120C>T c.446C>T c.229-175C>T (n.229-175C>T) c.5140C>T (p.Gln1714Ter) c.427C>T (p.Gln143Ter) c.5149C>T (p.Gln1717Ter) c.4993C>T (p.Gln1665Ter) c.328-175C>T n.524C>T c.535C>T (p.Gln179Ter) n.125C>T c.5335C>T (p.Gln1779Ter) c.1189C>T (p.Gln397Ter) c.592C>T (p.Gln198Ter) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13235211G>C | CA404335801 | CACNA1A | c.5131C>G (p.Gln1711Glu) c.5137C>G (p.Gln1713Glu) c.550C>G n.355C>G c.292C>G (p.Gln98Glu) n.336C>G c.5134C>G (p.Gln1712Glu) n.1120C>G c.446C>G c.229-175C>G (n.229-175C>G) c.5140C>G (p.Gln1714Glu) c.427C>G (p.Gln143Glu) c.5149C>G (p.Gln1717Glu) c.4993C>G (p.Gln1665Glu) c.328-175C>G n.524C>G c.535C>G (p.Gln179Glu) n.125C>G c.5335C>G (p.Gln1779Glu) c.1189C>G (p.Gln397Glu) c.592C>G (p.Gln198Glu) | |
| 19 | g.13235211G= | CA2323795590 | CACNA1A | c.5131C= (p.Gln1711=) c.5137C= (p.Gln1713=) c.550C= n.355C= c.292C= (p.Gln98=) n.336C= c.5134C= (p.Gln1712=) n.1120C= c.446C= c.229-175C= (n.229-175C=) c.5140C= (p.Gln1714=) c.427C= (p.Gln143=) c.5149C= (p.Gln1717=) c.4993C= (p.Gln1665=) c.328-175C= n.524C= c.535C= (p.Gln179=) n.125C= c.5335C= (p.Gln1779=) c.1189C= (p.Gln397=) c.592C= (p.Gln198=) | |
| 19 | g.13235211G>T | CA16620780 | CACNA1A | c.5131C>A (p.Gln1711Lys) c.5137C>A (p.Gln1713Lys) c.550C>A n.355C>A c.292C>A (p.Gln98Lys) n.336C>A c.5134C>A (p.Gln1712Lys) n.1120C>A c.446C>A c.229-175C>A (n.229-175C>A) c.5140C>A (p.Gln1714Lys) c.427C>A (p.Gln143Lys) c.5149C>A (p.Gln1717Lys) c.4993C>A (p.Gln1665Lys) c.328-175C>A n.524C>A c.535C>A (p.Gln179Lys) n.125C>A c.5335C>A (p.Gln1779Lys) c.1189C>A (p.Gln397Lys) c.592C>A (p.Gln198Lys) | ClinVar dbSNP |
| 19 | g.13235212C>A | CA404335802 | CACNA1A | c.5130G>T (p.Met1710Ile) c.5136G>T (p.Met1712Ile) c.549G>T n.354G>T c.291G>T (p.Met97Ile) n.335G>T c.5133G>T (p.Met1711Ile) n.1119G>T c.445G>T c.229-176G>T (n.229-176G>T) c.5139G>T (p.Met1713Ile) c.426G>T (p.Met142Ile) c.5148G>T (p.Met1716Ile) c.4992G>T (p.Met1664Ile) c.328-176G>T n.523G>T c.534G>T (p.Met178Ile) n.124G>T c.5334G>T (p.Met1778Ile) c.1188G>T (p.Met396Ile) c.591G>T (p.Met197Ile) | |
| 19 | g.13235212C>G | CA404335804 | CACNA1A | c.5130G>C (p.Met1710Ile) c.5136G>C (p.Met1712Ile) c.549G>C n.354G>C c.291G>C (p.Met97Ile) n.335G>C c.5133G>C (p.Met1711Ile) n.1119G>C c.445G>C c.229-176G>C (n.229-176G>C) c.5139G>C (p.Met1713Ile) c.426G>C (p.Met142Ile) c.5148G>C (p.Met1716Ile) c.4992G>C (p.Met1664Ile) c.328-176G>C n.523G>C c.534G>C (p.Met178Ile) n.124G>C c.5334G>C (p.Met1778Ile) c.1188G>C (p.Met396Ile) c.591G>C (p.Met197Ile) | |
| 19 | g.13235212C>T | CA404335803 | CACNA1A | c.5130G>A (p.Met1710Ile) c.5136G>A (p.Met1712Ile) c.549G>A n.354G>A c.291G>A (p.Met97Ile) n.335G>A c.5133G>A (p.Met1711Ile) n.1119G>A c.445G>A c.229-176G>A (n.229-176G>A) c.5139G>A (p.Met1713Ile) c.426G>A (p.Met142Ile) c.5148G>A (p.Met1716Ile) c.4992G>A (p.Met1664Ile) c.328-176G>A n.523G>A c.534G>A (p.Met178Ile) n.124G>A c.5334G>A (p.Met1778Ile) c.1188G>A (p.Met396Ile) c.591G>A (p.Met197Ile) | |
| 19 | g.13235213A>C | CA404335805 | CACNA1A | c.5129T>G (p.Met1710Arg) c.5135T>G (p.Met1712Arg) c.548T>G n.353T>G c.290T>G (p.Met97Arg) n.334T>G c.5132T>G (p.Met1711Arg) n.1118T>G c.444T>G c.229-177T>G (n.229-177T>G) c.5138T>G (p.Met1713Arg) c.425T>G (p.Met142Arg) c.5147T>G (p.Met1716Arg) c.4991T>G (p.Met1664Arg) c.328-177T>G n.522T>G c.533T>G (p.Met178Arg) n.123T>G c.5333T>G (p.Met1778Arg) c.1187T>G (p.Met396Arg) c.590T>G (p.Met197Arg) | |
| 19 | g.13235213A>G | CA404335806 | CACNA1A | c.5129T>C (p.Met1710Thr) c.5135T>C (p.Met1712Thr) c.548T>C n.353T>C c.290T>C (p.Met97Thr) n.334T>C c.5132T>C (p.Met1711Thr) n.1118T>C c.444T>C c.229-177T>C (n.229-177T>C) c.5138T>C (p.Met1713Thr) c.425T>C (p.Met142Thr) c.5147T>C (p.Met1716Thr) c.4991T>C (p.Met1664Thr) c.328-177T>C n.522T>C c.533T>C (p.Met178Thr) n.123T>C c.5333T>C (p.Met1778Thr) c.1187T>C (p.Met396Thr) c.590T>C (p.Met197Thr) | |
| 19 | g.13235213A>T | CA404335807 | CACNA1A | c.5129T>A (p.Met1710Lys) c.5135T>A (p.Met1712Lys) c.548T>A n.353T>A c.290T>A (p.Met97Lys) n.334T>A c.5132T>A (p.Met1711Lys) n.1118T>A c.444T>A c.229-177T>A (n.229-177T>A) c.5138T>A (p.Met1713Lys) c.425T>A (p.Met142Lys) c.5147T>A (p.Met1716Lys) c.4991T>A (p.Met1664Lys) c.328-177T>A n.522T>A c.533T>A (p.Met178Lys) n.123T>A c.5333T>A (p.Met1778Lys) c.1187T>A (p.Met396Lys) c.590T>A (p.Met197Lys) | |
| 19 | g.13235214T>A | CA404335808 | CACNA1A | c.5128A>T (p.Met1710Leu) c.5134A>T (p.Met1712Leu) c.547A>T n.352A>T c.289A>T (p.Met97Leu) n.333A>T c.5131A>T (p.Met1711Leu) n.1117A>T c.443A>T c.229-178A>T (n.229-178A>T) c.5137A>T (p.Met1713Leu) c.424A>T (p.Met142Leu) c.5146A>T (p.Met1716Leu) c.4990A>T (p.Met1664Leu) c.328-178A>T n.521A>T c.532A>T (p.Met178Leu) n.122A>T c.5332A>T (p.Met1778Leu) c.1186A>T (p.Met396Leu) c.589A>T (p.Met197Leu) | gnomAD v4 |
| 19 | g.13235214T>C | CA404335809 | CACNA1A | c.5128A>G (p.Met1710Val) c.5134A>G (p.Met1712Val) c.547A>G n.352A>G c.289A>G (p.Met97Val) n.333A>G c.5131A>G (p.Met1711Val) n.1117A>G c.443A>G c.229-178A>G (n.229-178A>G) c.5137A>G (p.Met1713Val) c.424A>G (p.Met142Val) c.5146A>G (p.Met1716Val) c.4990A>G (p.Met1664Val) c.328-178A>G n.521A>G c.532A>G (p.Met178Val) n.122A>G c.5332A>G (p.Met1778Val) c.1186A>G (p.Met396Val) c.589A>G (p.Met197Val) | |
| 19 | g.13235214T>G | CA404335810 | CACNA1A | c.5128A>C (p.Met1710Leu) c.5134A>C (p.Met1712Leu) c.547A>C n.352A>C c.289A>C (p.Met97Leu) n.333A>C c.5131A>C (p.Met1711Leu) n.1117A>C c.443A>C c.229-178A>C (n.229-178A>C) c.5137A>C (p.Met1713Leu) c.424A>C (p.Met142Leu) c.5146A>C (p.Met1716Leu) c.4990A>C (p.Met1664Leu) c.328-178A>C n.521A>C c.532A>C (p.Met178Leu) n.122A>C c.5332A>C (p.Met1778Leu) c.1186A>C (p.Met396Leu) c.589A>C (p.Met197Leu) | |
| 19 | g.13235215C>A | CA505658531 | CACNA1A | c.5127G>T (p.Gly1709=) c.5133G>T (p.Gly1711=) c.546G>T n.351G>T c.288G>T (p.Gly96=) n.332G>T c.5130G>T (p.Gly1710=) n.1116G>T c.442G>T c.229-179G>T (n.229-179G>T) c.5136G>T (p.Gly1712=) c.423G>T (p.Gly141=) c.5145G>T (p.Gly1715=) c.4989G>T (p.Gly1663=) c.328-179G>T n.520G>T c.531G>T (p.Gly177=) n.121G>T c.5331G>T (p.Gly1777=) c.1185G>T (p.Gly395=) c.588G>T (p.Gly196=) | |
| 19 | g.13235215C= | CA2323795591 | CACNA1A | c.5127G= (p.Gly1709=) c.5133G= (p.Gly1711=) c.546G= n.351G= c.288G= (p.Gly96=) n.332G= c.5130G= (p.Gly1710=) n.1116G= c.442G= c.229-179G= (n.229-179G=) c.5136G= (p.Gly1712=) c.423G= (p.Gly141=) c.5145G= (p.Gly1715=) c.4989G= (p.Gly1663=) c.328-179G= n.520G= c.531G= (p.Gly177=) n.121G= c.5331G= (p.Gly1777=) c.1185G= (p.Gly395=) c.588G= (p.Gly196=) | |
| 19 | g.13235215C>G | CA505658533 | CACNA1A | c.5127G>C (p.Gly1709=) c.5133G>C (p.Gly1711=) c.546G>C n.351G>C c.288G>C (p.Gly96=) n.332G>C c.5130G>C (p.Gly1710=) n.1116G>C c.442G>C c.229-179G>C (n.229-179G>C) c.5136G>C (p.Gly1712=) c.423G>C (p.Gly141=) c.5145G>C (p.Gly1715=) c.4989G>C (p.Gly1663=) c.328-179G>C n.520G>C c.531G>C (p.Gly177=) n.121G>C c.5331G>C (p.Gly1777=) c.1185G>C (p.Gly395=) c.588G>C (p.Gly196=) | |
| 19 | g.13235215C>T | CA505658535 | CACNA1A | c.5127G>A (p.Gly1709=) c.5133G>A (p.Gly1711=) c.546G>A n.351G>A c.288G>A (p.Gly96=) n.332G>A c.5130G>A (p.Gly1710=) n.1116G>A c.442G>A c.229-179G>A (n.229-179G>A) c.5136G>A (p.Gly1712=) c.423G>A (p.Gly141=) c.5145G>A (p.Gly1715=) c.4989G>A (p.Gly1663=) c.328-179G>A n.520G>A c.531G>A (p.Gly177=) n.121G>A c.5331G>A (p.Gly1777=) c.1185G>A (p.Gly395=) c.588G>A (p.Gly196=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13235216C>A | CA404335811 | CACNA1A | c.5126G>T (p.Gly1709Val) c.5132G>T (p.Gly1711Val) c.545G>T n.350G>T c.287G>T (p.Gly96Val) n.331G>T c.5129G>T (p.Gly1710Val) n.1115G>T c.441G>T c.229-180G>T (n.229-180G>T) c.5135G>T (p.Gly1712Val) c.422G>T (p.Gly141Val) c.5144G>T (p.Gly1715Val) c.4988G>T (p.Gly1663Val) c.328-180G>T n.519G>T c.530G>T (p.Gly177Val) n.120G>T c.5330G>T (p.Gly1777Val) c.1184G>T (p.Gly395Val) c.587G>T (p.Gly196Val) | gnomAD v4 |
| 19 | g.13235216C>G | CA404335812 | CACNA1A | c.5126G>C (p.Gly1709Ala) c.5132G>C (p.Gly1711Ala) c.545G>C n.350G>C c.287G>C (p.Gly96Ala) n.331G>C c.5129G>C (p.Gly1710Ala) n.1115G>C c.441G>C c.229-180G>C (n.229-180G>C) c.5135G>C (p.Gly1712Ala) c.422G>C (p.Gly141Ala) c.5144G>C (p.Gly1715Ala) c.4988G>C (p.Gly1663Ala) c.328-180G>C n.519G>C c.530G>C (p.Gly177Ala) n.120G>C c.5330G>C (p.Gly1777Ala) c.1184G>C (p.Gly395Ala) c.587G>C (p.Gly196Ala) | |
| 19 | g.13235216C>T | CA404335813 | CACNA1A | c.5126G>A (p.Gly1709Glu) c.5132G>A (p.Gly1711Glu) c.545G>A n.350G>A c.287G>A (p.Gly96Glu) n.331G>A c.5129G>A (p.Gly1710Glu) n.1115G>A c.441G>A c.229-180G>A (n.229-180G>A) c.5135G>A (p.Gly1712Glu) c.422G>A (p.Gly141Glu) c.5144G>A (p.Gly1715Glu) c.4988G>A (p.Gly1663Glu) c.328-180G>A n.519G>A c.530G>A (p.Gly177Glu) n.120G>A c.5330G>A (p.Gly1777Glu) c.1184G>A (p.Gly395Glu) c.587G>A (p.Gly196Glu) | |
| 19 | g.13235217C>A | CA404335814 | CACNA1A | c.5125G>T (p.Gly1709Trp) c.5131G>T (p.Gly1711Trp) c.544G>T n.349G>T c.286G>T (p.Gly96Trp) n.330G>T c.5128G>T (p.Gly1710Trp) n.1114G>T c.440G>T c.229-181G>T (n.229-181G>T) c.5134G>T (p.Gly1712Trp) c.421G>T (p.Gly141Trp) c.5143G>T (p.Gly1715Trp) c.4987G>T (p.Gly1663Trp) c.328-181G>T n.518G>T c.529G>T (p.Gly177Trp) n.119G>T c.5329G>T (p.Gly1777Trp) c.1183G>T (p.Gly395Trp) c.586G>T (p.Gly196Trp) | |
| 19 | g.13235217C= | CA2323795592 | CACNA1A | c.5125G= (p.Gly1709=) c.5131G= (p.Gly1711=) c.544G= n.349G= c.286G= (p.Gly96=) n.330G= c.5128G= (p.Gly1710=) n.1114G= c.440G= c.229-181G= (n.229-181G=) c.5134G= (p.Gly1712=) c.421G= (p.Gly141=) c.5143G= (p.Gly1715=) c.4987G= (p.Gly1663=) c.328-181G= n.518G= c.529G= (p.Gly177=) n.119G= c.5329G= (p.Gly1777=) c.1183G= (p.Gly395=) c.586G= (p.Gly196=) | |
| 19 | g.13235217C>G | CA404335815 | CACNA1A | c.5125G>C (p.Gly1709Arg) c.5131G>C (p.Gly1711Arg) c.544G>C n.349G>C c.286G>C (p.Gly96Arg) n.330G>C c.5128G>C (p.Gly1710Arg) n.1114G>C c.440G>C c.229-181G>C (n.229-181G>C) c.5134G>C (p.Gly1712Arg) c.421G>C (p.Gly141Arg) c.5143G>C (p.Gly1715Arg) c.4987G>C (p.Gly1663Arg) c.328-181G>C n.518G>C c.529G>C (p.Gly177Arg) n.119G>C c.5329G>C (p.Gly1777Arg) c.1183G>C (p.Gly395Arg) c.586G>C (p.Gly196Arg) | |
| 19 | g.13235217C>T | CA404335816 | CACNA1A | c.5125G>A (p.Gly1709Arg) c.5131G>A (p.Gly1711Arg) c.544G>A n.349G>A c.286G>A (p.Gly96Arg) n.330G>A c.5128G>A (p.Gly1710Arg) n.1114G>A c.440G>A c.229-181G>A (n.229-181G>A) c.5134G>A (p.Gly1712Arg) c.421G>A (p.Gly141Arg) c.5143G>A (p.Gly1715Arg) c.4987G>A (p.Gly1663Arg) c.328-181G>A n.518G>A c.529G>A (p.Gly177Arg) n.119G>A c.5329G>A (p.Gly1777Arg) c.1183G>A (p.Gly395Arg) c.586G>A (p.Gly196Arg) | ClinVar dbSNP |
| 19 | g.13235218A>C | CA404335817 | CACNA1A | c.5124T>G (p.Ile1708Met) c.5130T>G (p.Ile1710Met) c.543T>G n.348T>G c.285T>G (p.Ile95Met) n.329T>G c.5127T>G (p.Ile1709Met) n.1113T>G c.439T>G c.229-182T>G (n.229-182T>G) c.5133T>G (p.Ile1711Met) c.420T>G (p.Ile140Met) c.5142T>G (p.Ile1714Met) c.4986T>G (p.Ile1662Met) c.328-182T>G n.517T>G c.528T>G (p.Ile176Met) n.118T>G c.5328T>G (p.Ile1776Met) c.1182T>G (p.Ile394Met) c.585T>G (p.Ile195Met) | |
| 19 | g.13235218A>G | CA505658542 | CACNA1A | c.5124T>C (p.Ile1708=) c.5130T>C (p.Ile1710=) c.543T>C n.348T>C c.285T>C (p.Ile95=) n.329T>C c.5127T>C (p.Ile1709=) n.1113T>C c.439T>C c.229-182T>C (n.229-182T>C) c.5133T>C (p.Ile1711=) c.420T>C (p.Ile140=) c.5142T>C (p.Ile1714=) c.4986T>C (p.Ile1662=) c.328-182T>C n.517T>C c.528T>C (p.Ile176=) n.118T>C c.5328T>C (p.Ile1776=) c.1182T>C (p.Ile394=) c.585T>C (p.Ile195=) | |
| 19 | g.13235218A>T | CA505658541 | CACNA1A | c.5124T>A (p.Ile1708=) c.5130T>A (p.Ile1710=) c.543T>A n.348T>A c.285T>A (p.Ile95=) n.329T>A c.5127T>A (p.Ile1709=) n.1113T>A c.439T>A c.229-182T>A (n.229-182T>A) c.5133T>A (p.Ile1711=) c.420T>A (p.Ile140=) c.5142T>A (p.Ile1714=) c.4986T>A (p.Ile1662=) c.328-182T>A n.517T>A c.528T>A (p.Ile176=) n.118T>A c.5328T>A (p.Ile1776=) c.1182T>A (p.Ile394=) c.585T>A (p.Ile195=) | |
| 19 | g.13235219A= | CA2323795593 | CACNA1A | c.5123T= (p.Ile1708=) c.5129T= (p.Ile1710=) c.542T= n.347T= c.284T= (p.Ile95=) n.328T= c.5126T= (p.Ile1709=) n.1112T= c.438T= c.229-183T= (n.229-183T=) c.5132T= (p.Ile1711=) c.419T= (p.Ile140=) c.5141T= (p.Ile1714=) c.4985T= (p.Ile1662=) c.328-183T= n.516T= c.527T= (p.Ile176=) n.117T= c.5327T= (p.Ile1776=) c.1181T= (p.Ile394=) c.584T= (p.Ile195=) | |
| 19 | g.13235219A>C | CA404335819 | CACNA1A | c.5123T>G (p.Ile1708Ser) c.5129T>G (p.Ile1710Ser) c.542T>G n.347T>G c.284T>G (p.Ile95Ser) n.328T>G c.5126T>G (p.Ile1709Ser) n.1112T>G c.438T>G c.229-183T>G (n.229-183T>G) c.5132T>G (p.Ile1711Ser) c.419T>G (p.Ile140Ser) c.5141T>G (p.Ile1714Ser) c.4985T>G (p.Ile1662Ser) c.328-183T>G n.516T>G c.527T>G (p.Ile176Ser) n.117T>G c.5327T>G (p.Ile1776Ser) c.1181T>G (p.Ile394Ser) c.584T>G (p.Ile195Ser) | |
| 19 | g.13235219A>G | CA254489 | CACNA1A | c.5123T>C (p.Ile1708Thr) c.5129T>C (p.Ile1710Thr) c.542T>C n.347T>C c.284T>C (p.Ile95Thr) n.328T>C c.5126T>C (p.Ile1709Thr) n.1112T>C c.438T>C c.229-183T>C (n.229-183T>C) c.5132T>C (p.Ile1711Thr) c.419T>C (p.Ile140Thr) c.5141T>C (p.Ile1714Thr) c.4985T>C (p.Ile1662Thr) c.328-183T>C n.516T>C c.527T>C (p.Ile176Thr) n.117T>C c.5327T>C (p.Ile1776Thr) c.1181T>C (p.Ile394Thr) c.584T>C (p.Ile195Thr) | ClinVar dbSNP gnomAD v4 |
| 19 | g.13235219A>T | CA404335818 | CACNA1A | c.5123T>A (p.Ile1708Asn) c.5129T>A (p.Ile1710Asn) c.542T>A n.347T>A c.284T>A (p.Ile95Asn) n.328T>A c.5126T>A (p.Ile1709Asn) n.1112T>A c.438T>A c.229-183T>A (n.229-183T>A) c.5132T>A (p.Ile1711Asn) c.419T>A (p.Ile140Asn) c.5141T>A (p.Ile1714Asn) c.4985T>A (p.Ile1662Asn) c.328-183T>A n.516T>A c.527T>A (p.Ile176Asn) n.117T>A c.5327T>A (p.Ile1776Asn) c.1181T>A (p.Ile394Asn) c.584T>A (p.Ile195Asn) | |
| 19 | g.13235223_13235234del | CA2695228231 | CACNA1A | c.5112_5123del (p.Tyr1705_Ile1708del) c.5118_5129del (p.Tyr1707_Ile1710del) c.531_542del n.336_347del c.273_284del (p.Tyr92_Ile95del) n.317_328del c.5115_5126del (p.Tyr1706_Ile1709del) n.1101_1112del c.427_438del c.229-194_229-183del (n.229-194_229-183del) c.5121_5132del (p.Tyr1708_Ile1711del) c.408_419del (p.Tyr137_Ile140del) c.5130_5141del (p.Tyr1711_Ile1714del) c.4974_4985del (p.Tyr1659_Ile1662del) c.328-194_328-183del n.505_516del c.516_527del (p.Tyr173_Ile176del) n.106_117del c.5316_5327del (p.Tyr1773_Ile1776del) c.1170_1181del (p.Tyr391_Ile394del) c.573_584del (p.Tyr192_Ile195del) | |
| 19 | g.13235220T>A | CA404335820 | CACNA1A | c.5122A>T (p.Ile1708Phe) c.5128A>T (p.Ile1710Phe) c.541A>T n.346A>T c.283A>T (p.Ile95Phe) n.327A>T c.5125A>T (p.Ile1709Phe) n.1111A>T c.437A>T c.229-184A>T (n.229-184A>T) c.5131A>T (p.Ile1711Phe) c.418A>T (p.Ile140Phe) c.5140A>T (p.Ile1714Phe) c.4984A>T (p.Ile1662Phe) c.328-184A>T n.515A>T c.526A>T (p.Ile176Phe) n.116A>T c.5326A>T (p.Ile1776Phe) c.1180A>T (p.Ile394Phe) c.583A>T (p.Ile195Phe) | |
| 19 | g.13235220T>C | CA404335821 | CACNA1A | c.5122A>G (p.Ile1708Val) c.5128A>G (p.Ile1710Val) c.541A>G n.346A>G c.283A>G (p.Ile95Val) n.327A>G c.5125A>G (p.Ile1709Val) n.1111A>G c.437A>G c.229-184A>G (n.229-184A>G) c.5131A>G (p.Ile1711Val) c.418A>G (p.Ile140Val) c.5140A>G (p.Ile1714Val) c.4984A>G (p.Ile1662Val) c.328-184A>G n.515A>G c.526A>G (p.Ile176Val) n.116A>G c.5326A>G (p.Ile1776Val) c.1180A>G (p.Ile394Val) c.583A>G (p.Ile195Val) | gnomAD v4 |
| 19 | g.13235220T>G | CA404335822 | CACNA1A | c.5122A>C (p.Ile1708Leu) c.5128A>C (p.Ile1710Leu) c.541A>C n.346A>C c.283A>C (p.Ile95Leu) n.327A>C c.5125A>C (p.Ile1709Leu) n.1111A>C c.437A>C c.229-184A>C (n.229-184A>C) c.5131A>C (p.Ile1711Leu) c.418A>C (p.Ile140Leu) c.5140A>C (p.Ile1714Leu) c.4984A>C (p.Ile1662Leu) c.328-184A>C n.515A>C c.526A>C (p.Ile176Leu) n.116A>C c.5326A>C (p.Ile1776Leu) c.1180A>C (p.Ile394Leu) c.583A>C (p.Ile195Leu) | ClinVar dbSNP |
| 19 | g.13235221G>A | CA305516948 | CACNA1A | c.5121C>T (p.Ile1707=) c.5127C>T (p.Ile1709=) c.540C>T n.345C>T c.282C>T (p.Ile94=) n.326C>T c.5124C>T (p.Ile1708=) n.1110C>T c.436C>T c.229-185C>T (n.229-185C>T) c.5130C>T (p.Ile1710=) c.417C>T (p.Ile139=) c.5139C>T (p.Ile1713=) c.4983C>T (p.Ile1661=) c.328-185C>T n.514C>T c.525C>T (p.Ile175=) n.115C>T c.5325C>T (p.Ile1775=) c.1179C>T (p.Ile393=) c.582C>T (p.Ile194=) | dbSNP gnomAD v4 |
| 19 | g.13235221G>C | CA404335823 | CACNA1A | c.5121C>G (p.Ile1707Met) c.5127C>G (p.Ile1709Met) c.540C>G n.345C>G c.282C>G (p.Ile94Met) n.326C>G c.5124C>G (p.Ile1708Met) n.1110C>G c.436C>G c.229-185C>G (n.229-185C>G) c.5130C>G (p.Ile1710Met) c.417C>G (p.Ile139Met) c.5139C>G (p.Ile1713Met) c.4983C>G (p.Ile1661Met) c.328-185C>G n.514C>G c.525C>G (p.Ile175Met) n.115C>G c.5325C>G (p.Ile1775Met) c.1179C>G (p.Ile393Met) c.582C>G (p.Ile194Met) | |
| 19 | g.13235221G= | CA2323795594 | CACNA1A | c.5121C= (p.Ile1707=) c.5127C= (p.Ile1709=) c.540C= n.345C= c.282C= (p.Ile94=) n.326C= c.5124C= (p.Ile1708=) n.1110C= c.436C= c.229-185C= (n.229-185C=) c.5130C= (p.Ile1710=) c.417C= (p.Ile139=) c.5139C= (p.Ile1713=) c.4983C= (p.Ile1661=) c.328-185C= n.514C= c.525C= (p.Ile175=) n.115C= c.5325C= (p.Ile1775=) c.1179C= (p.Ile393=) c.582C= (p.Ile194=) | |
| 19 | g.13235221G>T | CA505658552 | CACNA1A | c.5121C>A (p.Ile1707=) c.5127C>A (p.Ile1709=) c.540C>A n.345C>A c.282C>A (p.Ile94=) n.326C>A c.5124C>A (p.Ile1708=) n.1110C>A c.436C>A c.229-185C>A (n.229-185C>A) c.5130C>A (p.Ile1710=) c.417C>A (p.Ile139=) c.5139C>A (p.Ile1713=) c.4983C>A (p.Ile1661=) c.328-185C>A n.514C>A c.525C>A (p.Ile175=) n.115C>A c.5325C>A (p.Ile1775=) c.1179C>A (p.Ile393=) c.582C>A (p.Ile194=) | gnomAD v4 |
| 19 | g.13235222A>C | CA404335824 | CACNA1A | c.5120T>G (p.Ile1707Ser) c.5126T>G (p.Ile1709Ser) c.539T>G n.344T>G c.281T>G (p.Ile94Ser) n.325T>G c.5123T>G (p.Ile1708Ser) n.1109T>G c.435T>G c.229-186T>G (n.229-186T>G) c.5129T>G (p.Ile1710Ser) c.416T>G (p.Ile139Ser) c.5138T>G (p.Ile1713Ser) c.4982T>G (p.Ile1661Ser) c.328-186T>G n.513T>G c.524T>G (p.Ile175Ser) n.114T>G c.5324T>G (p.Ile1775Ser) c.1178T>G (p.Ile393Ser) c.581T>G (p.Ile194Ser) | |
| 19 | g.13235222A>G | CA404335825 | CACNA1A | c.5120T>C (p.Ile1707Thr) c.5126T>C (p.Ile1709Thr) c.539T>C n.344T>C c.281T>C (p.Ile94Thr) n.325T>C c.5123T>C (p.Ile1708Thr) n.1109T>C c.435T>C c.229-186T>C (n.229-186T>C) c.5129T>C (p.Ile1710Thr) c.416T>C (p.Ile139Thr) c.5138T>C (p.Ile1713Thr) c.4982T>C (p.Ile1661Thr) c.328-186T>C n.513T>C c.524T>C (p.Ile175Thr) n.114T>C c.5324T>C (p.Ile1775Thr) c.1178T>C (p.Ile393Thr) c.581T>C (p.Ile194Thr) | ClinVar dbSNP |
| 19 | g.13235222A>T | CA404335826 | CACNA1A | c.5120T>A (p.Ile1707Asn) c.5126T>A (p.Ile1709Asn) c.539T>A n.344T>A c.281T>A (p.Ile94Asn) n.325T>A c.5123T>A (p.Ile1708Asn) n.1109T>A c.435T>A c.229-186T>A (n.229-186T>A) c.5129T>A (p.Ile1710Asn) c.416T>A (p.Ile139Asn) c.5138T>A (p.Ile1713Asn) c.4982T>A (p.Ile1661Asn) c.328-186T>A n.513T>A c.524T>A (p.Ile175Asn) n.114T>A c.5324T>A (p.Ile1775Asn) c.1178T>A (p.Ile393Asn) c.581T>A (p.Ile194Asn) | |
| 19 | g.13235223T>A | CA404335827 | CACNA1A | c.5119A>T (p.Ile1707Phe) c.5125A>T (p.Ile1709Phe) c.538A>T n.343A>T c.280A>T (p.Ile94Phe) n.324A>T c.5122A>T (p.Ile1708Phe) n.1108A>T c.434A>T c.229-187A>T (n.229-187A>T) c.5128A>T (p.Ile1710Phe) c.415A>T (p.Ile139Phe) c.5137A>T (p.Ile1713Phe) c.4981A>T (p.Ile1661Phe) c.328-187A>T n.512A>T c.523A>T (p.Ile175Phe) n.113A>T c.5323A>T (p.Ile1775Phe) c.1177A>T (p.Ile393Phe) c.580A>T (p.Ile194Phe) | |
| 19 | g.13235223T>C | CA404335828 | CACNA1A | c.5119A>G (p.Ile1707Val) c.5125A>G (p.Ile1709Val) c.538A>G n.343A>G c.280A>G (p.Ile94Val) n.324A>G c.5122A>G (p.Ile1708Val) n.1108A>G c.434A>G c.229-187A>G (n.229-187A>G) c.5128A>G (p.Ile1710Val) c.415A>G (p.Ile139Val) c.5137A>G (p.Ile1713Val) c.4981A>G (p.Ile1661Val) c.328-187A>G n.512A>G c.523A>G (p.Ile175Val) n.113A>G c.5323A>G (p.Ile1775Val) c.1177A>G (p.Ile393Val) c.580A>G (p.Ile194Val) | dbSNP |
| 19 | g.13235223T>G | CA404335829 | CACNA1A | c.5119A>C (p.Ile1707Leu) c.5125A>C (p.Ile1709Leu) c.538A>C n.343A>C c.280A>C (p.Ile94Leu) n.324A>C c.5122A>C (p.Ile1708Leu) n.1108A>C c.434A>C c.229-187A>C (n.229-187A>C) c.5128A>C (p.Ile1710Leu) c.415A>C (p.Ile139Leu) c.5137A>C (p.Ile1713Leu) c.4981A>C (p.Ile1661Leu) c.328-187A>C n.512A>C c.523A>C (p.Ile175Leu) n.113A>C c.5323A>C (p.Ile1775Leu) c.1177A>C (p.Ile393Leu) c.580A>C (p.Ile194Leu) | |
| 19 | g.13235223T= | CA2323795595 | CACNA1A | c.5119A= (p.Ile1707=) c.5125A= (p.Ile1709=) c.538A= n.343A= c.280A= (p.Ile94=) n.324A= c.5122A= (p.Ile1708=) n.1108A= c.434A= c.229-187A= (n.229-187A=) c.5128A= (p.Ile1710=) c.415A= (p.Ile139=) c.5137A= (p.Ile1713=) c.4981A= (p.Ile1661=) c.328-187A= n.512A= c.523A= (p.Ile175=) n.113A= c.5323A= (p.Ile1775=) c.1177A= (p.Ile393=) c.580A= (p.Ile194=) | |
| 19 | g.13235224G>A | CA505658558 | CACNA1A | c.5118C>T (p.Ala1706=) c.5124C>T (p.Ala1708=) c.537C>T n.342C>T c.279C>T (p.Ala93=) n.323C>T c.5121C>T (p.Ala1707=) n.1107C>T c.433C>T c.229-188C>T (n.229-188C>T) c.5127C>T (p.Ala1709=) c.414C>T (p.Ala138=) c.5136C>T (p.Ala1712=) c.4980C>T (p.Ala1660=) c.328-188C>T n.511C>T c.522C>T (p.Ala174=) n.112C>T c.5322C>T (p.Ala1774=) c.1176C>T (p.Ala392=) c.579C>T (p.Ala193=) | ClinVar dbSNP |
| 19 | g.13235224G>C | CA505658559 | CACNA1A | c.5118C>G (p.Ala1706=) c.5124C>G (p.Ala1708=) c.537C>G n.342C>G c.279C>G (p.Ala93=) n.323C>G c.5121C>G (p.Ala1707=) n.1107C>G c.433C>G c.229-188C>G (n.229-188C>G) c.5127C>G (p.Ala1709=) c.414C>G (p.Ala138=) c.5136C>G (p.Ala1712=) c.4980C>G (p.Ala1660=) c.328-188C>G n.511C>G c.522C>G (p.Ala174=) n.112C>G c.5322C>G (p.Ala1774=) c.1176C>G (p.Ala392=) c.579C>G (p.Ala193=) | |
| 19 | g.13235224G>T | CA505658560 | CACNA1A | c.5118C>A (p.Ala1706=) c.5124C>A (p.Ala1708=) c.537C>A n.342C>A c.279C>A (p.Ala93=) n.323C>A c.5121C>A (p.Ala1707=) n.1107C>A c.433C>A c.229-188C>A (n.229-188C>A) c.5127C>A (p.Ala1709=) c.414C>A (p.Ala138=) c.5136C>A (p.Ala1712=) c.4980C>A (p.Ala1660=) c.328-188C>A n.511C>A c.522C>A (p.Ala174=) n.112C>A c.5322C>A (p.Ala1774=) c.1176C>A (p.Ala392=) c.579C>A (p.Ala193=) | gnomAD v4 |
| 19 | g.13235225G>A | CA404335832 | CACNA1A | c.5117C>T (p.Ala1706Val) c.5123C>T (p.Ala1708Val) c.536C>T n.341C>T c.278C>T (p.Ala93Val) n.322C>T c.5120C>T (p.Ala1707Val) n.1106C>T c.432C>T c.229-189C>T (n.229-189C>T) c.5126C>T (p.Ala1709Val) c.413C>T (p.Ala138Val) c.5135C>T (p.Ala1712Val) c.4979C>T (p.Ala1660Val) c.328-189C>T n.510C>T c.521C>T (p.Ala174Val) n.111C>T c.5321C>T (p.Ala1774Val) c.1175C>T (p.Ala392Val) c.578C>T (p.Ala193Val) | ClinVar gnomAD v4 |