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.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) | |
| 19 | g.13235031A>G | CA505658463 | CACNA1A | c.5139T>C (p.Phe1713=) c.5145T>C (p.Phe1715=) c.558T>C n.363T>C c.300T>C (p.Phe100=) n.344T>C c.5142T>C (p.Phe1714=) n.1128T>C c.454T>C c.234T>C (p.Phe78=) c.5148T>C (p.Phe1716=) c.435T>C (p.Phe145=) c.5157T>C (p.Phe1719=) c.5001T>C (p.Phe1667=) c.333T>C n.532T>C c.543T>C (p.Phe181=) n.133T>C c.5343T>C (p.Phe1781=) c.1197T>C (p.Phe399=) c.600T>C (p.Phe200=) | gnomAD v4 |
| 19 | g.13235031A>T | CA404335770 | CACNA1A | c.5139T>A (p.Phe1713Leu) c.5145T>A (p.Phe1715Leu) c.558T>A n.363T>A c.300T>A (p.Phe100Leu) n.344T>A c.5142T>A (p.Phe1714Leu) n.1128T>A c.454T>A c.234T>A (p.Phe78Leu) c.5148T>A (p.Phe1716Leu) c.435T>A (p.Phe145Leu) c.5157T>A (p.Phe1719Leu) c.5001T>A (p.Phe1667Leu) c.333T>A n.532T>A c.543T>A (p.Phe181Leu) n.133T>A c.5343T>A (p.Phe1781Leu) c.1197T>A (p.Phe399Leu) c.600T>A (p.Phe200Leu) | ClinVar dbSNP |
| 19 | g.13235032A>C | CA404335773 | CACNA1A | c.5138T>G (p.Phe1713Cys) c.5144T>G (p.Phe1715Cys) c.557T>G n.362T>G c.299T>G (p.Phe100Cys) n.343T>G c.5141T>G (p.Phe1714Cys) n.1127T>G c.453T>G c.233T>G (p.Phe78Cys) c.5147T>G (p.Phe1716Cys) c.434T>G (p.Phe145Cys) c.5156T>G (p.Phe1719Cys) c.5000T>G (p.Phe1667Cys) c.332T>G n.531T>G c.542T>G (p.Phe181Cys) n.132T>G c.5342T>G (p.Phe1781Cys) c.1196T>G (p.Phe399Cys) c.599T>G (p.Phe200Cys) | |
| 19 | g.13235032A>G | CA404335772 | CACNA1A | c.5138T>C (p.Phe1713Ser) c.5144T>C (p.Phe1715Ser) c.557T>C n.362T>C c.299T>C (p.Phe100Ser) n.343T>C c.5141T>C (p.Phe1714Ser) n.1127T>C c.453T>C c.233T>C (p.Phe78Ser) c.5147T>C (p.Phe1716Ser) c.434T>C (p.Phe145Ser) c.5156T>C (p.Phe1719Ser) c.5000T>C (p.Phe1667Ser) c.332T>C n.531T>C c.542T>C (p.Phe181Ser) n.132T>C c.5342T>C (p.Phe1781Ser) c.1196T>C (p.Phe399Ser) c.599T>C (p.Phe200Ser) | |
| 19 | g.13235032A>T | CA404335771 | CACNA1A | c.5138T>A (p.Phe1713Tyr) c.5144T>A (p.Phe1715Tyr) c.557T>A n.362T>A c.299T>A (p.Phe100Tyr) n.343T>A c.5141T>A (p.Phe1714Tyr) n.1127T>A c.453T>A c.233T>A (p.Phe78Tyr) c.5147T>A (p.Phe1716Tyr) c.434T>A (p.Phe145Tyr) c.5156T>A (p.Phe1719Tyr) c.5000T>A (p.Phe1667Tyr) c.332T>A n.531T>A c.542T>A (p.Phe181Tyr) n.132T>A c.5342T>A (p.Phe1781Tyr) c.1196T>A (p.Phe399Tyr) c.599T>A (p.Phe200Tyr) | |
| 19 | g.13235033A>C | CA404335774 | CACNA1A | c.5137T>G (p.Phe1713Val) c.5143T>G (p.Phe1715Val) c.556T>G n.361T>G c.298T>G (p.Phe100Val) n.342T>G c.5140T>G (p.Phe1714Val) n.1126T>G c.452T>G c.232T>G (p.Phe78Val) c.5146T>G (p.Phe1716Val) c.433T>G (p.Phe145Val) c.5155T>G (p.Phe1719Val) c.4999T>G (p.Phe1667Val) c.331T>G n.530T>G c.541T>G (p.Phe181Val) n.131T>G c.5341T>G (p.Phe1781Val) c.1195T>G (p.Phe399Val) c.598T>G (p.Phe200Val) | |
| 19 | g.13235033A>G | CA404335775 | CACNA1A | c.5137T>C (p.Phe1713Leu) c.5143T>C (p.Phe1715Leu) c.556T>C n.361T>C c.298T>C (p.Phe100Leu) n.342T>C c.5140T>C (p.Phe1714Leu) n.1126T>C c.452T>C c.232T>C (p.Phe78Leu) c.5146T>C (p.Phe1716Leu) c.433T>C (p.Phe145Leu) c.5155T>C (p.Phe1719Leu) c.4999T>C (p.Phe1667Leu) c.331T>C n.530T>C c.541T>C (p.Phe181Leu) n.131T>C c.5341T>C (p.Phe1781Leu) c.1195T>C (p.Phe399Leu) c.598T>C (p.Phe200Leu) | |
| 19 | g.13235033A>T | CA404335776 | CACNA1A | c.5137T>A (p.Phe1713Ile) c.5143T>A (p.Phe1715Ile) c.556T>A n.361T>A c.298T>A (p.Phe100Ile) n.342T>A c.5140T>A (p.Phe1714Ile) n.1126T>A c.452T>A c.232T>A (p.Phe78Ile) c.5146T>A (p.Phe1716Ile) c.433T>A (p.Phe145Ile) c.5155T>A (p.Phe1719Ile) c.4999T>A (p.Phe1667Ile) c.331T>A n.530T>A c.541T>A (p.Phe181Ile) n.131T>A c.5341T>A (p.Phe1781Ile) c.1195T>A (p.Phe399Ile) c.598T>A (p.Phe200Ile) | |
| 19 | g.13235034C>A | CA505658471 | CACNA1A | c.5136G>T (p.Val1712=) c.5142G>T (p.Val1714=) c.555G>T n.360G>T c.297G>T (p.Val99=) n.341G>T c.5139G>T (p.Val1713=) n.1125G>T c.451G>T c.231G>T (p.Val77=) c.5145G>T (p.Val1715=) c.432G>T (p.Val144=) c.5154G>T (p.Val1718=) c.4998G>T (p.Val1666=) c.330G>T n.529G>T c.540G>T (p.Val180=) n.130G>T c.5340G>T (p.Val1780=) c.1194G>T (p.Val398=) c.597G>T (p.Val199=) | |
| 19 | g.13235034C>G | CA505658475 | CACNA1A | c.5136G>C (p.Val1712=) c.5142G>C (p.Val1714=) c.555G>C n.360G>C c.297G>C (p.Val99=) n.341G>C c.5139G>C (p.Val1713=) n.1125G>C c.451G>C c.231G>C (p.Val77=) c.5145G>C (p.Val1715=) c.432G>C (p.Val144=) c.5154G>C (p.Val1718=) c.4998G>C (p.Val1666=) c.330G>C n.529G>C c.540G>C (p.Val180=) n.130G>C c.5340G>C (p.Val1780=) c.1194G>C (p.Val398=) c.597G>C (p.Val199=) | |
| 19 | g.13235034C>T | CA505658473 | CACNA1A | c.5136G>A (p.Val1712=) c.5142G>A (p.Val1714=) c.555G>A n.360G>A c.297G>A (p.Val99=) n.341G>A c.5139G>A (p.Val1713=) n.1125G>A c.451G>A c.231G>A (p.Val77=) c.5145G>A (p.Val1715=) c.432G>A (p.Val144=) c.5154G>A (p.Val1718=) c.4998G>A (p.Val1666=) c.330G>A n.529G>A c.540G>A (p.Val180=) n.130G>A c.5340G>A (p.Val1780=) c.1194G>A (p.Val398=) c.597G>A (p.Val199=) | |
| 19 | g.13235035A>C | CA404335777 | CACNA1A | c.5135T>G (p.Val1712Gly) c.5141T>G (p.Val1714Gly) c.554T>G n.359T>G c.296T>G (p.Val99Gly) n.340T>G c.5138T>G (p.Val1713Gly) n.1124T>G c.450T>G c.230T>G (p.Val77Gly) c.5144T>G (p.Val1715Gly) c.431T>G (p.Val144Gly) c.5153T>G (p.Val1718Gly) c.4997T>G (p.Val1666Gly) c.329T>G n.528T>G c.539T>G (p.Val180Gly) n.129T>G c.5339T>G (p.Val1780Gly) c.1193T>G (p.Val398Gly) c.596T>G (p.Val199Gly) | |
| 19 | g.13235035A>G | CA404335778 | CACNA1A | c.5135T>C (p.Val1712Ala) c.5141T>C (p.Val1714Ala) c.554T>C n.359T>C c.296T>C (p.Val99Ala) n.340T>C c.5138T>C (p.Val1713Ala) n.1124T>C c.450T>C c.230T>C (p.Val77Ala) c.5144T>C (p.Val1715Ala) c.431T>C (p.Val144Ala) c.5153T>C (p.Val1718Ala) c.4997T>C (p.Val1666Ala) c.329T>C n.528T>C c.539T>C (p.Val180Ala) n.129T>C c.5339T>C (p.Val1780Ala) c.1193T>C (p.Val398Ala) c.596T>C (p.Val199Ala) | |
| 19 | g.13235035A>T | CA404335779 | CACNA1A | c.5135T>A (p.Val1712Glu) c.5141T>A (p.Val1714Glu) c.554T>A n.359T>A c.296T>A (p.Val99Glu) n.340T>A c.5138T>A (p.Val1713Glu) n.1124T>A c.450T>A c.230T>A (p.Val77Glu) c.5144T>A (p.Val1715Glu) c.431T>A (p.Val144Glu) c.5153T>A (p.Val1718Glu) c.4997T>A (p.Val1666Glu) c.329T>A n.528T>A c.539T>A (p.Val180Glu) n.129T>A c.5339T>A (p.Val1780Glu) c.1193T>A (p.Val398Glu) c.596T>A (p.Val199Glu) | |
| 19 | g.13235036C>A | CA404335780 | CACNA1A | c.5134G>T (p.Val1712Leu) c.5140G>T (p.Val1714Leu) c.553G>T n.358G>T c.295G>T (p.Val99Leu) n.339G>T c.5137G>T (p.Val1713Leu) n.1123G>T c.449G>T c.229G>T (p.Val77Leu) c.5143G>T (p.Val1715Leu) c.430G>T (p.Val144Leu) c.5152G>T (p.Val1718Leu) c.4996G>T (p.Val1666Leu) c.328G>T n.527G>T c.538G>T (p.Val180Leu) n.128G>T c.5338G>T (p.Val1780Leu) c.1192G>T (p.Val398Leu) c.595G>T (p.Val199Leu) | |
| 19 | g.13235036C= | CA2323795498 | CACNA1A | c.5134G= (p.Val1712=) c.5140G= (p.Val1714=) c.553G= n.358G= c.295G= (p.Val99=) n.339G= c.5137G= (p.Val1713=) n.1123G= c.449G= c.229G= (p.Val77=) c.5143G= (p.Val1715=) c.430G= (p.Val144=) c.5152G= (p.Val1718=) c.4996G= (p.Val1666=) c.328G= n.527G= c.538G= (p.Val180=) n.128G= c.5338G= (p.Val1780=) c.1192G= (p.Val398=) c.595G= (p.Val199=) | |
| 19 | g.13235036C>G | CA404335781 | CACNA1A | c.5134G>C (p.Val1712Leu) c.5140G>C (p.Val1714Leu) c.553G>C n.358G>C c.295G>C (p.Val99Leu) n.339G>C c.5137G>C (p.Val1713Leu) n.1123G>C c.449G>C c.229G>C (p.Val77Leu) c.5143G>C (p.Val1715Leu) c.430G>C (p.Val144Leu) c.5152G>C (p.Val1718Leu) c.4996G>C (p.Val1666Leu) c.328G>C n.527G>C c.538G>C (p.Val180Leu) n.128G>C c.5338G>C (p.Val1780Leu) c.1192G>C (p.Val398Leu) c.595G>C (p.Val199Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13235036C>T | CA404335782 | CACNA1A | c.5134G>A (p.Val1712Met) c.5140G>A (p.Val1714Met) c.553G>A n.358G>A c.295G>A (p.Val99Met) n.339G>A c.5137G>A (p.Val1713Met) n.1123G>A c.449G>A c.229G>A (p.Val77Met) c.5143G>A (p.Val1715Met) c.430G>A (p.Val144Met) c.5152G>A (p.Val1718Met) c.4996G>A (p.Val1666Met) c.328G>A n.527G>A c.538G>A (p.Val180Met) n.128G>A c.5338G>A (p.Val1780Met) c.1192G>A (p.Val398Met) c.595G>A (p.Val199Met) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13235036_13235037insACCCAACA | CA2813659347 | CACNA1A | c.5134-1_5134insTGTTGGGT (n.5134-1_5134insTGTTGGGT) c.5140-1_5140insTGTTGGGT (n.5140-1_5140insTGTTGGGT) c.553-1_553insTGTTGGGT n.358-1_358insTGTTGGGT c.295-1_295insTGTTGGGT (n.295-1_295insTGTTGGGT) n.339-1_339insTGTTGGGT c.5137-1_5137insTGTTGGGT (n.5137-1_5137insTGTTGGGT) n.1123-1_1123insTGTTGGGT c.449-1_449insTGTTGGGT c.229-1_229insTGTTGGGT (n.229-1_229insTGTTGGGT) c.5143-1_5143insTGTTGGGT (n.5143-1_5143insTGTTGGGT) c.430-1_430insTGTTGGGT (n.430-1_430insTGTTGGGT) c.5152-1_5152insTGTTGGGT (n.5152-1_5152insTGTTGGGT) c.4996-1_4996insTGTTGGGT (n.4996-1_4996insTGTTGGGT) c.328-1_328insTGTTGGGT n.527-1_527insTGTTGGGT c.538-1_538insTGTTGGGT (n.538-1_538insTGTTGGGT) n.128-1_128insTGTTGGGT c.5338-1_5338insTGTTGGGT (n.5338-1_5338insTGTTGGGT) c.1192-1_1192insTGTTGGGT (n.1192-1_1192insTGTTGGGT) c.595-1_595insTGTTGGGT (n.595-1_595insTGTTGGGT) | |
| 19 | g.13235037C>A | CA404335783 | CACNA1A | c.5134-1G>T (n.5134-1G>T) c.5140-1G>T (n.5140-1G>T) c.553-1G>T n.358-1G>T c.295-1G>T (n.295-1G>T) n.339-1G>T c.5137-1G>T (n.5137-1G>T) n.1123-1G>T c.449-1G>T c.229-1G>T (n.229-1G>T) c.5143-1G>T (n.5143-1G>T) c.430-1G>T (n.430-1G>T) c.5152-1G>T (n.5152-1G>T) c.4996-1G>T (n.4996-1G>T) c.328-1G>T n.527-1G>T c.538-1G>T (n.538-1G>T) n.128-1G>T c.5338-1G>T (n.5338-1G>T) c.1192-1G>T (n.1192-1G>T) c.595-1G>T (n.595-1G>T) | |
| 19 | g.13235037C>G | CA404335784 | CACNA1A | c.5134-1G>C (n.5134-1G>C) c.5140-1G>C (n.5140-1G>C) c.553-1G>C n.358-1G>C c.295-1G>C (n.295-1G>C) n.339-1G>C c.5137-1G>C (n.5137-1G>C) n.1123-1G>C c.449-1G>C c.229-1G>C (n.229-1G>C) c.5143-1G>C (n.5143-1G>C) c.430-1G>C (n.430-1G>C) c.5152-1G>C (n.5152-1G>C) c.4996-1G>C (n.4996-1G>C) c.328-1G>C n.527-1G>C c.538-1G>C (n.538-1G>C) n.128-1G>C c.5338-1G>C (n.5338-1G>C) c.1192-1G>C (n.1192-1G>C) c.595-1G>C (n.595-1G>C) |