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.13235016G>A | CA9239811 | CACNA1A | c.5154C>T (p.Ile1718=) c.5160C>T (p.Ile1720=) c.573C>T n.378C>T c.315C>T (p.Ile105=) n.359C>T c.5157C>T (p.Ile1719=) n.1143C>T c.469C>T c.249C>T (p.Ile83=) c.5163C>T (p.Ile1721=) c.450C>T (p.Ile150=) c.5172C>T (p.Ile1724=) c.5016C>T (p.Ile1672=) c.348C>T n.547C>T c.558C>T (p.Ile186=) n.148C>T c.5358C>T (p.Ile1786=) c.1212C>T (p.Ile404=) c.615C>T (p.Ile205=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.13235016G>C | CA404335735 | CACNA1A | c.5154C>G (p.Ile1718Met) c.5160C>G (p.Ile1720Met) c.573C>G n.378C>G c.315C>G (p.Ile105Met) n.359C>G c.5157C>G (p.Ile1719Met) n.1143C>G c.469C>G c.249C>G (p.Ile83Met) c.5163C>G (p.Ile1721Met) c.450C>G (p.Ile150Met) c.5172C>G (p.Ile1724Met) c.5016C>G (p.Ile1672Met) c.348C>G n.547C>G c.558C>G (p.Ile186Met) n.148C>G c.5358C>G (p.Ile1786Met) c.1212C>G (p.Ile404Met) c.615C>G (p.Ile205Met) | ClinVar |
| 19 | g.13235016G= | CA2323795494 | CACNA1A | c.5154C= (p.Ile1718=) c.5160C= (p.Ile1720=) c.573C= n.378C= c.315C= (p.Ile105=) n.359C= c.5157C= (p.Ile1719=) n.1143C= c.469C= c.249C= (p.Ile83=) c.5163C= (p.Ile1721=) c.450C= (p.Ile150=) c.5172C= (p.Ile1724=) c.5016C= (p.Ile1672=) c.348C= n.547C= c.558C= (p.Ile186=) n.148C= c.5358C= (p.Ile1786=) c.1212C= (p.Ile404=) c.615C= (p.Ile205=) | |
| 19 | g.13235016G>T | CA505658418 | CACNA1A | c.5154C>A (p.Ile1718=) c.5160C>A (p.Ile1720=) c.573C>A n.378C>A c.315C>A (p.Ile105=) n.359C>A c.5157C>A (p.Ile1719=) n.1143C>A c.469C>A c.249C>A (p.Ile83=) c.5163C>A (p.Ile1721=) c.450C>A (p.Ile150=) c.5172C>A (p.Ile1724=) c.5016C>A (p.Ile1672=) c.348C>A n.547C>A c.558C>A (p.Ile186=) n.148C>A c.5358C>A (p.Ile1786=) c.1212C>A (p.Ile404=) c.615C>A (p.Ile205=) | |
| 19 | g.13235017A>C | CA404335736 | CACNA1A | c.5153T>G (p.Ile1718Ser) c.5159T>G (p.Ile1720Ser) c.572T>G n.377T>G c.314T>G (p.Ile105Ser) n.358T>G c.5156T>G (p.Ile1719Ser) n.1142T>G c.468T>G c.248T>G (p.Ile83Ser) c.5162T>G (p.Ile1721Ser) c.449T>G (p.Ile150Ser) c.5171T>G (p.Ile1724Ser) c.5015T>G (p.Ile1672Ser) c.347T>G n.546T>G c.557T>G (p.Ile186Ser) n.147T>G c.5357T>G (p.Ile1786Ser) c.1211T>G (p.Ile404Ser) c.614T>G (p.Ile205Ser) | |
| 19 | g.13235017A>G | CA404335737 | CACNA1A | c.5153T>C (p.Ile1718Thr) c.5159T>C (p.Ile1720Thr) c.572T>C n.377T>C c.314T>C (p.Ile105Thr) n.358T>C c.5156T>C (p.Ile1719Thr) n.1142T>C c.468T>C c.248T>C (p.Ile83Thr) c.5162T>C (p.Ile1721Thr) c.449T>C (p.Ile150Thr) c.5171T>C (p.Ile1724Thr) c.5015T>C (p.Ile1672Thr) c.347T>C n.546T>C c.557T>C (p.Ile186Thr) n.147T>C c.5357T>C (p.Ile1786Thr) c.1211T>C (p.Ile404Thr) c.614T>C (p.Ile205Thr) | |
| 19 | g.13235017A>T | CA404335738 | CACNA1A | c.5153T>A (p.Ile1718Asn) c.5159T>A (p.Ile1720Asn) c.572T>A n.377T>A c.314T>A (p.Ile105Asn) n.358T>A c.5156T>A (p.Ile1719Asn) n.1142T>A c.468T>A c.248T>A (p.Ile83Asn) c.5162T>A (p.Ile1721Asn) c.449T>A (p.Ile150Asn) c.5171T>A (p.Ile1724Asn) c.5015T>A (p.Ile1672Asn) c.347T>A n.546T>A c.557T>A (p.Ile186Asn) n.147T>A c.5357T>A (p.Ile1786Asn) c.1211T>A (p.Ile404Asn) c.614T>A (p.Ile205Asn) | |
| 19 | g.13235018T>A | CA404335741 | CACNA1A | c.5152A>T (p.Ile1718Phe) c.5158A>T (p.Ile1720Phe) c.571A>T n.376A>T c.313A>T (p.Ile105Phe) n.357A>T c.5155A>T (p.Ile1719Phe) n.1141A>T c.467A>T c.247A>T (p.Ile83Phe) c.5161A>T (p.Ile1721Phe) c.448A>T (p.Ile150Phe) c.5170A>T (p.Ile1724Phe) c.5014A>T (p.Ile1672Phe) c.346A>T n.545A>T c.556A>T (p.Ile186Phe) n.146A>T c.5356A>T (p.Ile1786Phe) c.1210A>T (p.Ile404Phe) c.613A>T (p.Ile205Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13235018T>C | CA404335740 | CACNA1A | c.5152A>G (p.Ile1718Val) c.5158A>G (p.Ile1720Val) c.571A>G n.376A>G c.313A>G (p.Ile105Val) n.357A>G c.5155A>G (p.Ile1719Val) n.1141A>G c.467A>G c.247A>G (p.Ile83Val) c.5161A>G (p.Ile1721Val) c.448A>G (p.Ile150Val) c.5170A>G (p.Ile1724Val) c.5014A>G (p.Ile1672Val) c.346A>G n.545A>G c.556A>G (p.Ile186Val) n.146A>G c.5356A>G (p.Ile1786Val) c.1210A>G (p.Ile404Val) c.613A>G (p.Ile205Val) | |
| 19 | g.13235018T>G | CA404335739 | CACNA1A | c.5152A>C (p.Ile1718Leu) c.5158A>C (p.Ile1720Leu) c.571A>C n.376A>C c.313A>C (p.Ile105Leu) n.357A>C c.5155A>C (p.Ile1719Leu) n.1141A>C c.467A>C c.247A>C (p.Ile83Leu) c.5161A>C (p.Ile1721Leu) c.448A>C (p.Ile150Leu) c.5170A>C (p.Ile1724Leu) c.5014A>C (p.Ile1672Leu) c.346A>C n.545A>C c.556A>C (p.Ile186Leu) n.146A>C c.5356A>C (p.Ile1786Leu) c.1210A>C (p.Ile404Leu) c.613A>C (p.Ile205Leu) | |
| 19 | g.13235018T= | CA2323795495 | CACNA1A | c.5152A= (p.Ile1718=) c.5158A= (p.Ile1720=) c.571A= n.376A= c.313A= (p.Ile105=) n.357A= c.5155A= (p.Ile1719=) n.1141A= c.467A= c.247A= (p.Ile83=) c.5161A= (p.Ile1721=) c.448A= (p.Ile150=) c.5170A= (p.Ile1724=) c.5014A= (p.Ile1672=) c.346A= n.545A= c.556A= (p.Ile186=) n.146A= c.5356A= (p.Ile1786=) c.1210A= (p.Ile404=) c.613A= (p.Ile205=) | |
| 19 | g.13235019G>A | CA505658424 | CACNA1A | c.5151C>T (p.Gly1717=) c.5157C>T (p.Gly1719=) c.570C>T n.375C>T c.312C>T (p.Gly104=) n.356C>T c.5154C>T (p.Gly1718=) n.1140C>T c.466C>T c.246C>T (p.Gly82=) c.5160C>T (p.Gly1720=) c.447C>T (p.Gly149=) c.5169C>T (p.Gly1723=) c.5013C>T (p.Gly1671=) c.345C>T n.544C>T c.555C>T (p.Gly185=) n.145C>T c.5355C>T (p.Gly1785=) c.1209C>T (p.Gly403=) c.612C>T (p.Gly204=) | |
| 19 | g.13235019G>C | CA505658425 | CACNA1A | c.5151C>G (p.Gly1717=) c.5157C>G (p.Gly1719=) c.570C>G n.375C>G c.312C>G (p.Gly104=) n.356C>G c.5154C>G (p.Gly1718=) n.1140C>G c.466C>G c.246C>G (p.Gly82=) c.5160C>G (p.Gly1720=) c.447C>G (p.Gly149=) c.5169C>G (p.Gly1723=) c.5013C>G (p.Gly1671=) c.345C>G n.544C>G c.555C>G (p.Gly185=) n.145C>G c.5355C>G (p.Gly1785=) c.1209C>G (p.Gly403=) c.612C>G (p.Gly204=) | |
| 19 | g.13235019G>T | CA505658426 | CACNA1A | c.5151C>A (p.Gly1717=) c.5157C>A (p.Gly1719=) c.570C>A n.375C>A c.312C>A (p.Gly104=) n.356C>A c.5154C>A (p.Gly1718=) n.1140C>A c.466C>A c.246C>A (p.Gly82=) c.5160C>A (p.Gly1720=) c.447C>A (p.Gly149=) c.5169C>A (p.Gly1723=) c.5013C>A (p.Gly1671=) c.345C>A n.544C>A c.555C>A (p.Gly185=) n.145C>A c.5355C>A (p.Gly1785=) c.1209C>A (p.Gly403=) c.612C>A (p.Gly204=) | |
| 19 | g.13235020C>A | CA404335742 | CACNA1A | c.5150G>T (p.Gly1717Val) c.5156G>T (p.Gly1719Val) c.569G>T n.374G>T c.311G>T (p.Gly104Val) n.355G>T c.5153G>T (p.Gly1718Val) n.1139G>T c.465G>T c.245G>T (p.Gly82Val) c.5159G>T (p.Gly1720Val) c.446G>T (p.Gly149Val) c.5168G>T (p.Gly1723Val) c.5012G>T (p.Gly1671Val) c.344G>T n.543G>T c.554G>T (p.Gly185Val) n.144G>T c.5354G>T (p.Gly1785Val) c.1208G>T (p.Gly403Val) c.611G>T (p.Gly204Val) | |
| 19 | g.13235020C>G | CA404335744 | CACNA1A | c.5150G>C (p.Gly1717Ala) c.5156G>C (p.Gly1719Ala) c.569G>C n.374G>C c.311G>C (p.Gly104Ala) n.355G>C c.5153G>C (p.Gly1718Ala) n.1139G>C c.465G>C c.245G>C (p.Gly82Ala) c.5159G>C (p.Gly1720Ala) c.446G>C (p.Gly149Ala) c.5168G>C (p.Gly1723Ala) c.5012G>C (p.Gly1671Ala) c.344G>C n.543G>C c.554G>C (p.Gly185Ala) n.144G>C c.5354G>C (p.Gly1785Ala) c.1208G>C (p.Gly403Ala) c.611G>C (p.Gly204Ala) | |
| 19 | g.13235020C>T | CA404335743 | CACNA1A | c.5150G>A (p.Gly1717Asp) c.5156G>A (p.Gly1719Asp) c.569G>A n.374G>A c.311G>A (p.Gly104Asp) n.355G>A c.5153G>A (p.Gly1718Asp) n.1139G>A c.465G>A c.245G>A (p.Gly82Asp) c.5159G>A (p.Gly1720Asp) c.446G>A (p.Gly149Asp) c.5168G>A (p.Gly1723Asp) c.5012G>A (p.Gly1671Asp) c.344G>A n.543G>A c.554G>A (p.Gly185Asp) n.144G>A c.5354G>A (p.Gly1785Asp) c.1208G>A (p.Gly403Asp) c.611G>A (p.Gly204Asp) | |
| 19 | g.13235021C>A | CA404335745 | CACNA1A | c.5149G>T (p.Gly1717Cys) c.5155G>T (p.Gly1719Cys) c.568G>T n.373G>T c.310G>T (p.Gly104Cys) n.354G>T c.5152G>T (p.Gly1718Cys) n.1138G>T c.464G>T c.244G>T (p.Gly82Cys) c.5158G>T (p.Gly1720Cys) c.445G>T (p.Gly149Cys) c.5167G>T (p.Gly1723Cys) c.5011G>T (p.Gly1671Cys) c.343G>T n.542G>T c.553G>T (p.Gly185Cys) n.143G>T c.5353G>T (p.Gly1785Cys) c.1207G>T (p.Gly403Cys) c.610G>T (p.Gly204Cys) | |
| 19 | g.13235021C= | CA2323795496 | CACNA1A | c.5149G= (p.Gly1717=) c.5155G= (p.Gly1719=) c.568G= n.373G= c.310G= (p.Gly104=) n.354G= c.5152G= (p.Gly1718=) n.1138G= c.464G= c.244G= (p.Gly82=) c.5158G= (p.Gly1720=) c.445G= (p.Gly149=) c.5167G= (p.Gly1723=) c.5011G= (p.Gly1671=) c.343G= n.542G= c.553G= (p.Gly185=) n.143G= c.5353G= (p.Gly1785=) c.1207G= (p.Gly403=) c.610G= (p.Gly204=) | |
| 19 | g.13235021C>G | CA404335746 | CACNA1A | c.5149G>C (p.Gly1717Arg) c.5155G>C (p.Gly1719Arg) c.568G>C n.373G>C c.310G>C (p.Gly104Arg) n.354G>C c.5152G>C (p.Gly1718Arg) n.1138G>C c.464G>C c.244G>C (p.Gly82Arg) c.5158G>C (p.Gly1720Arg) c.445G>C (p.Gly149Arg) c.5167G>C (p.Gly1723Arg) c.5011G>C (p.Gly1671Arg) c.343G>C n.542G>C c.553G>C (p.Gly185Arg) n.143G>C c.5353G>C (p.Gly1785Arg) c.1207G>C (p.Gly403Arg) c.610G>C (p.Gly204Arg) | |
| 19 | g.13235021C>T | CA404335747 | CACNA1A | c.5149G>A (p.Gly1717Ser) c.5155G>A (p.Gly1719Ser) c.568G>A n.373G>A c.310G>A (p.Gly104Ser) n.354G>A c.5152G>A (p.Gly1718Ser) n.1138G>A c.464G>A c.244G>A (p.Gly82Ser) c.5158G>A (p.Gly1720Ser) c.445G>A (p.Gly149Ser) c.5167G>A (p.Gly1723Ser) c.5011G>A (p.Gly1671Ser) c.343G>A n.542G>A c.553G>A (p.Gly185Ser) n.143G>A c.5353G>A (p.Gly1785Ser) c.1207G>A (p.Gly403Ser) c.610G>A (p.Gly204Ser) | dbSNP |
| 19 | g.13235022A= | CA2323795497 | CACNA1A | c.5148T= (p.Ile1716=) c.5154T= (p.Ile1718=) c.567T= n.372T= c.309T= (p.Ile103=) n.353T= c.5151T= (p.Ile1717=) n.1137T= c.463T= c.243T= (p.Ile81=) c.5157T= (p.Ile1719=) c.444T= (p.Ile148=) c.5166T= (p.Ile1722=) c.5010T= (p.Ile1670=) c.342T= n.541T= c.552T= (p.Ile184=) n.142T= c.5352T= (p.Ile1784=) c.1206T= (p.Ile402=) c.609T= (p.Ile203=) | |
| 19 | g.13235022A>C | CA404335748 | CACNA1A | c.5148T>G (p.Ile1716Met) c.5154T>G (p.Ile1718Met) c.567T>G n.372T>G c.309T>G (p.Ile103Met) n.353T>G c.5151T>G (p.Ile1717Met) n.1137T>G c.463T>G c.243T>G (p.Ile81Met) c.5157T>G (p.Ile1719Met) c.444T>G (p.Ile148Met) c.5166T>G (p.Ile1722Met) c.5010T>G (p.Ile1670Met) c.342T>G n.541T>G c.552T>G (p.Ile184Met) n.142T>G c.5352T>G (p.Ile1784Met) c.1206T>G (p.Ile402Met) c.609T>G (p.Ile203Met) | |
| 19 | g.13235022A>G | CA505658433 | CACNA1A | c.5148T>C (p.Ile1716=) c.5154T>C (p.Ile1718=) c.567T>C n.372T>C c.309T>C (p.Ile103=) n.353T>C c.5151T>C (p.Ile1717=) n.1137T>C c.463T>C c.243T>C (p.Ile81=) c.5157T>C (p.Ile1719=) c.444T>C (p.Ile148=) c.5166T>C (p.Ile1722=) c.5010T>C (p.Ile1670=) c.342T>C n.541T>C c.552T>C (p.Ile184=) n.142T>C c.5352T>C (p.Ile1784=) c.1206T>C (p.Ile402=) c.609T>C (p.Ile203=) | |
| 19 | g.13235022A>T | CA505658435 | CACNA1A | c.5148T>A (p.Ile1716=) c.5154T>A (p.Ile1718=) c.567T>A n.372T>A c.309T>A (p.Ile103=) n.353T>A c.5151T>A (p.Ile1717=) n.1137T>A c.463T>A c.243T>A (p.Ile81=) c.5157T>A (p.Ile1719=) c.444T>A (p.Ile148=) c.5166T>A (p.Ile1722=) c.5010T>A (p.Ile1670=) c.342T>A n.541T>A c.552T>A (p.Ile184=) n.142T>A c.5352T>A (p.Ile1784=) c.1206T>A (p.Ile402=) c.609T>A (p.Ile203=) | dbSNP |
| 19 | g.13235023A>C | CA404335749 | CACNA1A | c.5147T>G (p.Ile1716Ser) c.5153T>G (p.Ile1718Ser) c.566T>G n.371T>G c.308T>G (p.Ile103Ser) n.352T>G c.5150T>G (p.Ile1717Ser) n.1136T>G c.462T>G c.242T>G (p.Ile81Ser) c.5156T>G (p.Ile1719Ser) c.443T>G (p.Ile148Ser) c.5165T>G (p.Ile1722Ser) c.5009T>G (p.Ile1670Ser) c.341T>G n.540T>G c.551T>G (p.Ile184Ser) n.141T>G c.5351T>G (p.Ile1784Ser) c.1205T>G (p.Ile402Ser) c.608T>G (p.Ile203Ser) | |
| 19 | g.13235023A>G | CA404335750 | CACNA1A | c.5147T>C (p.Ile1716Thr) c.5153T>C (p.Ile1718Thr) c.566T>C n.371T>C c.308T>C (p.Ile103Thr) n.352T>C c.5150T>C (p.Ile1717Thr) n.1136T>C c.462T>C c.242T>C (p.Ile81Thr) c.5156T>C (p.Ile1719Thr) c.443T>C (p.Ile148Thr) c.5165T>C (p.Ile1722Thr) c.5009T>C (p.Ile1670Thr) c.341T>C n.540T>C c.551T>C (p.Ile184Thr) n.141T>C c.5351T>C (p.Ile1784Thr) c.1205T>C (p.Ile402Thr) c.608T>C (p.Ile203Thr) | |
| 19 | g.13235023A>T | CA404335751 | CACNA1A | c.5147T>A (p.Ile1716Asn) c.5153T>A (p.Ile1718Asn) c.566T>A n.371T>A c.308T>A (p.Ile103Asn) n.352T>A c.5150T>A (p.Ile1717Asn) n.1136T>A c.462T>A c.242T>A (p.Ile81Asn) c.5156T>A (p.Ile1719Asn) c.443T>A (p.Ile148Asn) c.5165T>A (p.Ile1722Asn) c.5009T>A (p.Ile1670Asn) c.341T>A n.540T>A c.551T>A (p.Ile184Asn) n.141T>A c.5351T>A (p.Ile1784Asn) c.1205T>A (p.Ile402Asn) c.608T>A (p.Ile203Asn) | |
| 19 | g.13235024T>A | CA404335752 | CACNA1A | c.5146A>T (p.Ile1716Phe) c.5152A>T (p.Ile1718Phe) c.565A>T n.370A>T c.307A>T (p.Ile103Phe) n.351A>T c.5149A>T (p.Ile1717Phe) n.1135A>T c.461A>T c.241A>T (p.Ile81Phe) c.5155A>T (p.Ile1719Phe) c.442A>T (p.Ile148Phe) c.5164A>T (p.Ile1722Phe) c.5008A>T (p.Ile1670Phe) c.340A>T n.539A>T c.550A>T (p.Ile184Phe) n.140A>T c.5350A>T (p.Ile1784Phe) c.1204A>T (p.Ile402Phe) c.607A>T (p.Ile203Phe) | |
| 19 | g.13235024T>C | CA404335753 | CACNA1A | c.5146A>G (p.Ile1716Val) c.5152A>G (p.Ile1718Val) c.565A>G n.370A>G c.307A>G (p.Ile103Val) n.351A>G c.5149A>G (p.Ile1717Val) n.1135A>G c.461A>G c.241A>G (p.Ile81Val) c.5155A>G (p.Ile1719Val) c.442A>G (p.Ile148Val) c.5164A>G (p.Ile1722Val) c.5008A>G (p.Ile1670Val) c.340A>G n.539A>G c.550A>G (p.Ile184Val) n.140A>G c.5350A>G (p.Ile1784Val) c.1204A>G (p.Ile402Val) c.607A>G (p.Ile203Val) | gnomAD v4 |
| 19 | g.13235024T>G | CA404335754 | CACNA1A | c.5146A>C (p.Ile1716Leu) c.5152A>C (p.Ile1718Leu) c.565A>C n.370A>C c.307A>C (p.Ile103Leu) n.351A>C c.5149A>C (p.Ile1717Leu) n.1135A>C c.461A>C c.241A>C (p.Ile81Leu) c.5155A>C (p.Ile1719Leu) c.442A>C (p.Ile148Leu) c.5164A>C (p.Ile1722Leu) c.5008A>C (p.Ile1670Leu) c.340A>C n.539A>C c.550A>C (p.Ile184Leu) n.140A>C c.5350A>C (p.Ile1784Leu) c.1204A>C (p.Ile402Leu) c.607A>C (p.Ile203Leu) | |
| 19 | g.13235025G>A | CA505658442 | CACNA1A | c.5145C>T (p.Asn1715=) c.5151C>T (p.Asn1717=) c.564C>T n.369C>T c.306C>T (p.Asn102=) n.350C>T c.5148C>T (p.Asn1716=) n.1134C>T c.460C>T c.240C>T (p.Asn80=) c.5154C>T (p.Asn1718=) c.441C>T (p.Asn147=) c.5163C>T (p.Asn1721=) c.5007C>T (p.Asn1669=) c.339C>T n.538C>T c.549C>T (p.Asn183=) n.139C>T c.5349C>T (p.Asn1783=) c.1203C>T (p.Asn401=) c.606C>T (p.Asn202=) | |
| 19 | g.13235025G>C | CA404335755 | CACNA1A | c.5145C>G (p.Asn1715Lys) c.5151C>G (p.Asn1717Lys) c.564C>G n.369C>G c.306C>G (p.Asn102Lys) n.350C>G c.5148C>G (p.Asn1716Lys) n.1134C>G c.460C>G c.240C>G (p.Asn80Lys) c.5154C>G (p.Asn1718Lys) c.441C>G (p.Asn147Lys) c.5163C>G (p.Asn1721Lys) c.5007C>G (p.Asn1669Lys) c.339C>G n.538C>G c.549C>G (p.Asn183Lys) n.139C>G c.5349C>G (p.Asn1783Lys) c.1203C>G (p.Asn401Lys) c.606C>G (p.Asn202Lys) | |
| 19 | g.13235025G>T | CA404335756 | CACNA1A | c.5145C>A (p.Asn1715Lys) c.5151C>A (p.Asn1717Lys) c.564C>A n.369C>A c.306C>A (p.Asn102Lys) n.350C>A c.5148C>A (p.Asn1716Lys) n.1134C>A c.460C>A c.240C>A (p.Asn80Lys) c.5154C>A (p.Asn1718Lys) c.441C>A (p.Asn147Lys) c.5163C>A (p.Asn1721Lys) c.5007C>A (p.Asn1669Lys) c.339C>A n.538C>A c.549C>A (p.Asn183Lys) n.139C>A c.5349C>A (p.Asn1783Lys) c.1203C>A (p.Asn401Lys) c.606C>A (p.Asn202Lys) | |
| 19 | g.13235026T>A | CA404335759 | CACNA1A | c.5144A>T (p.Asn1715Ile) c.5150A>T (p.Asn1717Ile) c.563A>T n.368A>T c.305A>T (p.Asn102Ile) n.349A>T c.5147A>T (p.Asn1716Ile) n.1133A>T c.459A>T c.239A>T (p.Asn80Ile) c.5153A>T (p.Asn1718Ile) c.440A>T (p.Asn147Ile) c.5162A>T (p.Asn1721Ile) c.5006A>T (p.Asn1669Ile) c.338A>T n.537A>T c.548A>T (p.Asn183Ile) n.138A>T c.5348A>T (p.Asn1783Ile) c.1202A>T (p.Asn401Ile) c.605A>T (p.Asn202Ile) | |
| 19 | g.13235026T>C | CA404335757 | CACNA1A | c.5144A>G (p.Asn1715Ser) c.5150A>G (p.Asn1717Ser) c.563A>G n.368A>G c.305A>G (p.Asn102Ser) n.349A>G c.5147A>G (p.Asn1716Ser) n.1133A>G c.459A>G c.239A>G (p.Asn80Ser) c.5153A>G (p.Asn1718Ser) c.440A>G (p.Asn147Ser) c.5162A>G (p.Asn1721Ser) c.5006A>G (p.Asn1669Ser) c.338A>G n.537A>G c.548A>G (p.Asn183Ser) n.138A>G c.5348A>G (p.Asn1783Ser) c.1202A>G (p.Asn401Ser) c.605A>G (p.Asn202Ser) | |
| 19 | g.13235026T>G | CA404335758 | CACNA1A | c.5144A>C (p.Asn1715Thr) c.5150A>C (p.Asn1717Thr) c.563A>C n.368A>C c.305A>C (p.Asn102Thr) n.349A>C c.5147A>C (p.Asn1716Thr) n.1133A>C c.459A>C c.239A>C (p.Asn80Thr) c.5153A>C (p.Asn1718Thr) c.440A>C (p.Asn147Thr) c.5162A>C (p.Asn1721Thr) c.5006A>C (p.Asn1669Thr) c.338A>C n.537A>C c.548A>C (p.Asn183Thr) n.138A>C c.5348A>C (p.Asn1783Thr) c.1202A>C (p.Asn401Thr) c.605A>C (p.Asn202Thr) | |
| 19 | g.13235027T>A | CA404335760 | CACNA1A | c.5143A>T (p.Asn1715Tyr) c.5149A>T (p.Asn1717Tyr) c.562A>T n.367A>T c.304A>T (p.Asn102Tyr) n.348A>T c.5146A>T (p.Asn1716Tyr) n.1132A>T c.458A>T c.238A>T (p.Asn80Tyr) c.5152A>T (p.Asn1718Tyr) c.439A>T (p.Asn147Tyr) c.5161A>T (p.Asn1721Tyr) c.5005A>T (p.Asn1669Tyr) c.337A>T n.536A>T c.547A>T (p.Asn183Tyr) n.137A>T c.5347A>T (p.Asn1783Tyr) c.1201A>T (p.Asn401Tyr) c.604A>T (p.Asn202Tyr) | |
| 19 | g.13235027T>C | CA404335761 | CACNA1A | c.5143A>G (p.Asn1715Asp) c.5149A>G (p.Asn1717Asp) c.562A>G n.367A>G c.304A>G (p.Asn102Asp) n.348A>G c.5146A>G (p.Asn1716Asp) n.1132A>G c.458A>G c.238A>G (p.Asn80Asp) c.5152A>G (p.Asn1718Asp) c.439A>G (p.Asn147Asp) c.5161A>G (p.Asn1721Asp) c.5005A>G (p.Asn1669Asp) c.337A>G n.536A>G c.547A>G (p.Asn183Asp) n.137A>G c.5347A>G (p.Asn1783Asp) c.1201A>G (p.Asn401Asp) c.604A>G (p.Asn202Asp) | |
| 19 | g.13235027T>G | CA404335762 | CACNA1A | c.5143A>C (p.Asn1715His) c.5149A>C (p.Asn1717His) c.562A>C n.367A>C c.304A>C (p.Asn102His) n.348A>C c.5146A>C (p.Asn1716His) n.1132A>C c.458A>C c.238A>C (p.Asn80His) c.5152A>C (p.Asn1718His) c.439A>C (p.Asn147His) c.5161A>C (p.Asn1721His) c.5005A>C (p.Asn1669His) c.337A>C n.536A>C c.547A>C (p.Asn183His) n.137A>C c.5347A>C (p.Asn1783His) c.1201A>C (p.Asn401His) c.604A>C (p.Asn202His) | |
| 19 | g.13235028A>C | CA505658455 | CACNA1A | c.5142T>G (p.Gly1714=) c.5148T>G (p.Gly1716=) c.561T>G n.366T>G c.303T>G (p.Gly101=) n.347T>G c.5145T>G (p.Gly1715=) n.1131T>G c.457T>G c.237T>G (p.Gly79=) c.5151T>G (p.Gly1717=) c.438T>G (p.Gly146=) c.5160T>G (p.Gly1720=) c.5004T>G (p.Gly1668=) c.336T>G n.535T>G c.546T>G (p.Gly182=) n.136T>G c.5346T>G (p.Gly1782=) c.1200T>G (p.Gly400=) c.603T>G (p.Gly201=) | |
| 19 | g.13235028A>G | CA505658453 | CACNA1A | c.5142T>C (p.Gly1714=) c.5148T>C (p.Gly1716=) c.561T>C n.366T>C c.303T>C (p.Gly101=) n.347T>C c.5145T>C (p.Gly1715=) n.1131T>C c.457T>C c.237T>C (p.Gly79=) c.5151T>C (p.Gly1717=) c.438T>C (p.Gly146=) c.5160T>C (p.Gly1720=) c.5004T>C (p.Gly1668=) c.336T>C n.535T>C c.546T>C (p.Gly182=) n.136T>C c.5346T>C (p.Gly1782=) c.1200T>C (p.Gly400=) c.603T>C (p.Gly201=) | dbSNP |
| 19 | g.13235028A>T | CA505658452 | CACNA1A | c.5142T>A (p.Gly1714=) c.5148T>A (p.Gly1716=) c.561T>A n.366T>A c.303T>A (p.Gly101=) n.347T>A c.5145T>A (p.Gly1715=) n.1131T>A c.457T>A c.237T>A (p.Gly79=) c.5151T>A (p.Gly1717=) c.438T>A (p.Gly146=) c.5160T>A (p.Gly1720=) c.5004T>A (p.Gly1668=) c.336T>A n.535T>A c.546T>A (p.Gly182=) n.136T>A c.5346T>A (p.Gly1782=) c.1200T>A (p.Gly400=) c.603T>A (p.Gly201=) | |
| 19 | g.13235029C>A | CA404335763 | CACNA1A | c.5141G>T (p.Gly1714Val) c.5147G>T (p.Gly1716Val) c.560G>T n.365G>T c.302G>T (p.Gly101Val) n.346G>T c.5144G>T (p.Gly1715Val) n.1130G>T c.456G>T c.236G>T (p.Gly79Val) c.5150G>T (p.Gly1717Val) c.437G>T (p.Gly146Val) c.5159G>T (p.Gly1720Val) c.5003G>T (p.Gly1668Val) c.335G>T n.534G>T c.545G>T (p.Gly182Val) n.135G>T c.5345G>T (p.Gly1782Val) c.1199G>T (p.Gly400Val) c.602G>T (p.Gly201Val) | |
| 19 | g.13235029C>G | CA404335764 | CACNA1A | c.5141G>C (p.Gly1714Ala) c.5147G>C (p.Gly1716Ala) c.560G>C n.365G>C c.302G>C (p.Gly101Ala) n.346G>C c.5144G>C (p.Gly1715Ala) n.1130G>C c.456G>C c.236G>C (p.Gly79Ala) c.5150G>C (p.Gly1717Ala) c.437G>C (p.Gly146Ala) c.5159G>C (p.Gly1720Ala) c.5003G>C (p.Gly1668Ala) c.335G>C n.534G>C c.545G>C (p.Gly182Ala) n.135G>C c.5345G>C (p.Gly1782Ala) c.1199G>C (p.Gly400Ala) c.602G>C (p.Gly201Ala) | |
| 19 | g.13235029C>T | CA404335765 | CACNA1A | c.5141G>A (p.Gly1714Asp) c.5147G>A (p.Gly1716Asp) c.560G>A n.365G>A c.302G>A (p.Gly101Asp) n.346G>A c.5144G>A (p.Gly1715Asp) n.1130G>A c.456G>A c.236G>A (p.Gly79Asp) c.5150G>A (p.Gly1717Asp) c.437G>A (p.Gly146Asp) c.5159G>A (p.Gly1720Asp) c.5003G>A (p.Gly1668Asp) c.335G>A n.534G>A c.545G>A (p.Gly182Asp) n.135G>A c.5345G>A (p.Gly1782Asp) c.1199G>A (p.Gly400Asp) c.602G>A (p.Gly201Asp) | ClinVar |
| 19 | g.13235030C>A | CA404335766 | CACNA1A | c.5140G>T (p.Gly1714Cys) c.5146G>T (p.Gly1716Cys) c.559G>T n.364G>T c.301G>T (p.Gly101Cys) n.345G>T c.5143G>T (p.Gly1715Cys) n.1129G>T c.455G>T c.235G>T (p.Gly79Cys) c.5149G>T (p.Gly1717Cys) c.436G>T (p.Gly146Cys) c.5158G>T (p.Gly1720Cys) c.5002G>T (p.Gly1668Cys) c.334G>T n.533G>T c.544G>T (p.Gly182Cys) n.134G>T c.5344G>T (p.Gly1782Cys) c.1198G>T (p.Gly400Cys) c.601G>T (p.Gly201Cys) | |
| 19 | g.13235030C>G | CA404335767 | CACNA1A | c.5140G>C (p.Gly1714Arg) c.5146G>C (p.Gly1716Arg) c.559G>C n.364G>C c.301G>C (p.Gly101Arg) n.345G>C c.5143G>C (p.Gly1715Arg) n.1129G>C c.455G>C c.235G>C (p.Gly79Arg) c.5149G>C (p.Gly1717Arg) c.436G>C (p.Gly146Arg) c.5158G>C (p.Gly1720Arg) c.5002G>C (p.Gly1668Arg) c.334G>C n.533G>C c.544G>C (p.Gly182Arg) n.134G>C c.5344G>C (p.Gly1782Arg) c.1198G>C (p.Gly400Arg) c.601G>C (p.Gly201Arg) | ClinVar |
| 19 | g.13235030C>T | CA404335768 | CACNA1A | c.5140G>A (p.Gly1714Ser) c.5146G>A (p.Gly1716Ser) c.559G>A n.364G>A c.301G>A (p.Gly101Ser) n.345G>A c.5143G>A (p.Gly1715Ser) n.1129G>A c.455G>A c.235G>A (p.Gly79Ser) c.5149G>A (p.Gly1717Ser) c.436G>A (p.Gly146Ser) c.5158G>A (p.Gly1720Ser) c.5002G>A (p.Gly1668Ser) c.334G>A n.533G>A c.544G>A (p.Gly182Ser) n.134G>A c.5344G>A (p.Gly1782Ser) c.1198G>A (p.Gly400Ser) c.601G>A (p.Gly201Ser) | |
| 19 | g.13235031A>C | CA404335769 | CACNA1A | c.5139T>G (p.Phe1713Leu) c.5145T>G (p.Phe1715Leu) c.558T>G n.363T>G c.300T>G (p.Phe100Leu) n.344T>G c.5142T>G (p.Phe1714Leu) n.1128T>G c.454T>G c.234T>G (p.Phe78Leu) c.5148T>G (p.Phe1716Leu) c.435T>G (p.Phe145Leu) c.5157T>G (p.Phe1719Leu) c.5001T>G (p.Phe1667Leu) c.333T>G n.532T>G c.543T>G (p.Phe181Leu) n.133T>G c.5343T>G (p.Phe1781Leu) c.1197T>G (p.Phe399Leu) c.600T>G (p.Phe200Leu) |