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.38485646A= | CA2335046163 | RYR1 | c.4991A= (p.His1664=) c.4988A= (p.His1663=) n.5074A= | |
| 19 | g.38485646A>C | CA405652891 | RYR1 | c.4991A>C (p.His1664Pro) c.4988A>C (p.His1663Pro) n.5074A>C | |
| 19 | g.38485646A>G | CA405652892 | RYR1 | c.4991A>G (p.His1664Arg) c.4988A>G (p.His1663Arg) n.5074A>G | |
| 19 | g.38485646A>T | CA066579 | RYR1 | c.4991A>T (p.His1664Leu) c.4988A>T (p.His1663Leu) n.5074A>T | dbSNP ExAC gnomAD v2 |
| 19 | g.38485647C>A | CA405652895 | RYR1 | c.4992C>A (p.His1664Gln) c.4989C>A (p.His1663Gln) n.5075C>A | |
| 19 | g.38485647C>G | CA405652896 | RYR1 | c.4992C>G (p.His1664Gln) c.4989C>G (p.His1663Gln) n.5075C>G | gnomAD v4 |
| 19 | g.38485647C>T | CA507238450 | RYR1 | c.4992C>T (p.His1664=) c.4989C>T (p.His1663=) n.5075C>T | |
| 19 | g.38485648A= | CA2335046164 | RYR1 | c.4993A= (p.Thr1665=) c.4990A= (p.Thr1664=) n.5076A= | |
| 19 | g.38485648A>C | CA405652899 | RYR1 | c.4993A>C (p.Thr1665Pro) c.4990A>C (p.Thr1664Pro) n.5076A>C | dbSNP |
| 19 | g.38485648A>G | CA405652902 | RYR1 | c.4993A>G (p.Thr1665Ala) c.4990A>G (p.Thr1664Ala) n.5076A>G | |
| 19 | g.38485648A>T | CA405652906 | RYR1 | c.4993A>T (p.Thr1665Ser) c.4990A>T (p.Thr1664Ser) n.5076A>T | |
| 19 | g.38485649C>A | CA405652916 | RYR1 | c.4994C>A (p.Thr1665Asn) c.4991C>A (p.Thr1664Asn) n.5077C>A | gnomAD v4 |
| 19 | g.38485649C= | CA2335046165 | RYR1 | c.4994C= (p.Thr1665=) c.4991C= (p.Thr1664=) n.5077C= | |
| 19 | g.38485649C>G | CA405652914 | RYR1 | c.4994C>G (p.Thr1665Ser) c.4991C>G (p.Thr1664Ser) n.5077C>G | |
| 19 | g.38485649C>T | CA405652910 | RYR1 | c.4994C>T (p.Thr1665Ile) c.4991C>T (p.Thr1664Ile) n.5077C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485650C>A | CA507238452 | RYR1 | c.4995C>A (p.Thr1665=) c.4992C>A (p.Thr1664=) n.5078C>A | gnomAD v4 |
| 19 | g.38485650C>G | CA507238454 | RYR1 | c.4995C>G (p.Thr1665=) c.4992C>G (p.Thr1664=) n.5078C>G | ClinVar gnomAD v4 COSMIC |
| 19 | g.38485650C>T | CA507238453 | RYR1 | c.4995C>T (p.Thr1665=) c.4992C>T (p.Thr1664=) n.5078C>T | gnomAD v4 |
| 19 | g.38485651C>A | CA405652918 | RYR1 | c.4996C>A (p.Leu1666Met) c.4993C>A (p.Leu1665Met) n.5079C>A | dbSNP gnomAD v2 |
| 19 | g.38485651C= | CA2335046166 | RYR1 | c.4996C= (p.Leu1666=) c.4993C= (p.Leu1665=) n.5079C= | |
| 19 | g.38485651C>G | CA405652920 | RYR1 | c.4996C>G (p.Leu1666Val) c.4993C>G (p.Leu1665Val) n.5079C>G | gnomAD v4 |
| 19 | g.38485651C>T | CA507238458 | RYR1 | c.4996C>T (p.Leu1666=) c.4993C>T (p.Leu1665=) n.5079C>T | gnomAD v4 |
| 19 | g.38485652T>A | CA405652922 | RYR1 | c.4997T>A (p.Leu1666Gln) c.4994T>A (p.Leu1665Gln) n.5080T>A | |
| 19 | g.38485652T>C | CA405652924 | RYR1 | c.4997T>C (p.Leu1666Pro) c.4994T>C (p.Leu1665Pro) n.5080T>C | gnomAD v4 |
| 19 | g.38485652T>G | CA405652925 | RYR1 | c.4997T>G (p.Leu1666Arg) c.4994T>G (p.Leu1665Arg) n.5080T>G | |
| 19 | g.38485653G>A | CA507238461 | RYR1 | c.4998G>A (p.Leu1666=) c.4995G>A (p.Leu1665=) n.5081G>A | dbSNP gnomAD v4 |
| 19 | g.38485653G>C | CA507238462 | RYR1 | c.4998G>C (p.Leu1666=) c.4995G>C (p.Leu1665=) n.5081G>C | |
| 19 | g.38485653G= | CA2335046167 | RYR1 | c.4998G= (p.Leu1666=) c.4995G= (p.Leu1665=) n.5081G= | |
| 19 | g.38485653G>T | CA507238464 | RYR1 | c.4998G>T (p.Leu1666=) c.4995G>T (p.Leu1665=) n.5081G>T | |
| 19 | g.38485654C>A | CA405652929 | RYR1 | c.4999C>A (p.Arg1667Ser) c.4996C>A (p.Arg1666Ser) n.5082C>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485654C= | CA2335046168 | RYR1 | c.4999C= (p.Arg1667=) c.4996C= (p.Arg1666=) n.5082C= | |
| 19 | g.38485654C>G | CA405652932 | RYR1 | c.4999C>G (p.Arg1667Gly) c.4996C>G (p.Arg1666Gly) n.5082C>G | |
| 19 | g.38485654C>T | CA212170 | RYR1 | c.4999C>T (p.Arg1667Cys) c.4996C>T (p.Arg1666Cys) n.5082C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485654_38485681delinsCGCCTCTACCGCGCTGTGTGCGCCCTGG | CA2335046169 | RYR1 | c.4999_5026delinsCGCCTCTACCGCGCTGTGTGCGCCCTGG (p.Arg1667=) c.4996_5023delinsCGCCTCTACCGCGCTGTGTGCGCCCTGG (p.Arg1666=) n.5082_5109delinsCGCCTCTACCGCGCTGTGTGCGCCCTGG | |
| 19 | g.38485655G>A | CA066587 | RYR1 | c.5000G>A (p.Arg1667His) c.4997G>A (p.Arg1666His) n.5083G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485655G>C | CA405652938 | RYR1 | c.5000G>C (p.Arg1667Pro) c.4997G>C (p.Arg1666Pro) n.5083G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485655G= | CA2335046170 | RYR1 | c.5000G= (p.Arg1667=) c.4997G= (p.Arg1666=) n.5083G= | |
| 19 | g.38485655G>T | CA405652941 | RYR1 | c.5000G>T (p.Arg1667Leu) c.4997G>T (p.Arg1666Leu) n.5083G>T | gnomAD v4 |
| 19 | g.38485657_38485683del | CA9415806 | RYR1 | c.5002_5028del (p.Leu1668_Gly1676del) c.4999_5025del (p.Leu1667_Gly1675del) n.5085_5111del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485656C>A | CA507238471 | RYR1 | c.5001C>A (p.Arg1667=) c.4998C>A (p.Arg1666=) n.5084C>A | dbSNP |
| 19 | g.38485656C>G | CA507238474 | RYR1 | c.5001C>G (p.Arg1667=) c.4998C>G (p.Arg1666=) n.5084C>G | |
| 19 | g.38485656C>T | CA507238476 | RYR1 | c.5001C>T (p.Arg1667=) c.4998C>T (p.Arg1666=) n.5084C>T | |
| 19 | g.38485657C>A | CA405652963 | RYR1 | c.5002C>A (p.Leu1668Ile) c.4999C>A (p.Leu1667Ile) n.5085C>A | |
| 19 | g.38485657C= | CA2335046171 | RYR1 | c.5002C= (p.Leu1668=) c.4999C= (p.Leu1667=) n.5085C= | |
| 19 | g.38485657C>G | CA405652950 | RYR1 | c.5002C>G (p.Leu1668Val) c.4999C>G (p.Leu1667Val) n.5085C>G | gnomAD v4 |
| 19 | g.38485657C>T | CA405652946 | RYR1 | c.5002C>T (p.Leu1668Phe) c.4999C>T (p.Leu1667Phe) n.5085C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485658T>A | CA405652966 | RYR1 | c.5003T>A (p.Leu1668His) c.5000T>A (p.Leu1667His) n.5086T>A | |
| 19 | g.38485658T>C | CA405652977 | RYR1 | c.5003T>C (p.Leu1668Pro) c.5000T>C (p.Leu1667Pro) n.5086T>C | |
| 19 | g.38485658T>G | CA405652981 | RYR1 | c.5003T>G (p.Leu1668Arg) c.5000T>G (p.Leu1667Arg) n.5086T>G | |
| 19 | g.38485658_38485684del | CA081685 | RYR1 | c.5003_5029del (p.Leu1668_Asn1677delinsHis) c.5000_5026del (p.Leu1667_Asn1676delinsHis) n.5086_5112del | |
| 19 | g.38485659C>A | CA507238479 | RYR1 | c.5004C>A (p.Leu1668=) c.5001C>A (p.Leu1667=) n.5087C>A | gnomAD v4 |
| 19 | g.38485659C>G | CA507238480 | RYR1 | c.5004C>G (p.Leu1668=) c.5001C>G (p.Leu1667=) n.5087C>G | |
| 19 | g.38485659C>T | CA507238481 | RYR1 | c.5004C>T (p.Leu1668=) c.5001C>T (p.Leu1667=) n.5087C>T | gnomAD v4 |
| 19 | g.38485660T>A | CA405652989 | RYR1 | c.5005T>A (p.Tyr1669Asn) c.5002T>A (p.Tyr1668Asn) n.5088T>A | |
| 19 | g.38485660T>C | CA405652993 | RYR1 | c.5005T>C (p.Tyr1669His) c.5002T>C (p.Tyr1668His) n.5088T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485660T>G | CA405653006 | RYR1 | c.5005T>G (p.Tyr1669Asp) c.5002T>G (p.Tyr1668Asp) n.5088T>G | |
| 19 | g.38485660T= | CA2335046172 | RYR1 | c.5005T= (p.Tyr1669=) c.5002T= (p.Tyr1668=) n.5088T= | |
| 19 | g.38485661A>C | CA405653008 | RYR1 | c.5006A>C (p.Tyr1669Ser) c.5003A>C (p.Tyr1668Ser) n.5089A>C | |
| 19 | g.38485661A>G | CA405653012 | RYR1 | c.5006A>G (p.Tyr1669Cys) c.5003A>G (p.Tyr1668Cys) n.5089A>G | gnomAD v4 |
| 19 | g.38485661A>T | CA405653014 | RYR1 | c.5006A>T (p.Tyr1669Phe) c.5003A>T (p.Tyr1668Phe) n.5089A>T | |
| 19 | g.38485662C>A | CA405653017 | RYR1 | c.5007C>A (p.Tyr1669Ter) c.5004C>A (p.Tyr1668Ter) n.5090C>A | |
| 19 | g.38485662C= | CA2335046173 | RYR1 | c.5007C= (p.Tyr1669=) c.5004C= (p.Tyr1668=) n.5090C= | |
| 19 | g.38485662C>G | CA405653020 | RYR1 | c.5007C>G (p.Tyr1669Ter) c.5004C>G (p.Tyr1668Ter) n.5090C>G | |
| 19 | g.38485662C>T | CA066590 | RYR1 | c.5007C>T (p.Tyr1669=) c.5004C>T (p.Tyr1668=) n.5090C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485662_38485663delinsAA | CA645615239 | RYR1 | c.5007_5008delinsAA (p.Tyr1669Ter) c.5004_5005delinsAA (p.Tyr1668Ter) n.5090_5091delinsAA | COSMIC |
| 19 | g.38485663C>A | CA405653027 | RYR1 | c.5008C>A (p.Arg1670Ser) c.5005C>A (p.Arg1669Ser) n.5091C>A | |
| 19 | g.38485663C= | CA2335046174 | RYR1 | c.5008C= (p.Arg1670=) c.5005C= (p.Arg1669=) n.5091C= | |
| 19 | g.38485663C>G | CA405653033 | RYR1 | c.5008C>G (p.Arg1670Gly) c.5005C>G (p.Arg1669Gly) n.5091C>G | |
| 19 | g.38485663C>T | CA405653030 | RYR1 | c.5008C>T (p.Arg1670Cys) c.5005C>T (p.Arg1669Cys) n.5091C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.38485664G>A | CA405653037 | RYR1 | c.5009G>A (p.Arg1670His) c.5006G>A (p.Arg1669His) n.5092G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485664G>C | CA405653044 | RYR1 | c.5009G>C (p.Arg1670Pro) c.5006G>C (p.Arg1669Pro) n.5092G>C | |
| 19 | g.38485664G= | CA2335046175 | RYR1 | c.5009G= (p.Arg1670=) c.5006G= (p.Arg1669=) n.5092G= | |
| 19 | g.38485664G>T | CA405653039 | RYR1 | c.5009G>T (p.Arg1670Leu) c.5006G>T (p.Arg1669Leu) n.5092G>T | gnomAD v4 |
| 19 | g.38485665C>A | CA507238499 | RYR1 | c.5010C>A (p.Arg1670=) c.5007C>A (p.Arg1669=) n.5093C>A | |
| 19 | g.38485665C= | CA2335046176 | RYR1 | c.5010C= (p.Arg1670=) c.5007C= (p.Arg1669=) n.5093C= | |
| 19 | g.38485665C>G | CA066593 | RYR1 | c.5010C>G (p.Arg1670=) c.5007C>G (p.Arg1669=) n.5093C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485665C>T | CA066597 | RYR1 | c.5010C>T (p.Arg1670=) c.5007C>T (p.Arg1669=) n.5093C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485666G>A | CA405653049 | RYR1 | c.5011G>A (p.Ala1671Thr) c.5008G>A (p.Ala1670Thr) n.5094G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38485666G>C | CA405653055 | RYR1 | c.5011G>C (p.Ala1671Pro) c.5008G>C (p.Ala1670Pro) n.5094G>C | |
| 19 | g.38485666G= | CA2335046177 | RYR1 | c.5011G= (p.Ala1671=) c.5008G= (p.Ala1670=) n.5094G= | |
| 19 | g.38485666G>T | CA405653051 | RYR1 | c.5011G>T (p.Ala1671Ser) c.5008G>T (p.Ala1670Ser) n.5094G>T | gnomAD v4 |
| 19 | g.38485667C>A | CA405653058 | RYR1 | c.5012C>A (p.Ala1671Asp) c.5009C>A (p.Ala1670Asp) n.5095C>A | gnomAD v4 |
| 19 | g.38485667C= | CA2335046178 | RYR1 | c.5012C= (p.Ala1671=) c.5009C= (p.Ala1670=) n.5095C= | |
| 19 | g.38485667C>G | CA405653067 | RYR1 | c.5012C>G (p.Ala1671Gly) c.5009C>G (p.Ala1670Gly) n.5095C>G | |
| 19 | g.38485667C>T | CA405653069 | RYR1 | c.5012C>T (p.Ala1671Val) c.5009C>T (p.Ala1670Val) n.5095C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485668T>A | CA507238506 | RYR1 | c.5013T>A (p.Ala1671=) c.5010T>A (p.Ala1670=) n.5096T>A | |
| 19 | g.38485668T>C | CA507238505 | RYR1 | c.5013T>C (p.Ala1671=) c.5010T>C (p.Ala1670=) n.5096T>C | |
| 19 | g.38485668T>G | CA507238504 | RYR1 | c.5013T>G (p.Ala1671=) c.5010T>G (p.Ala1670=) n.5096T>G | |
| 19 | g.38485669G>A | CA405653075 | RYR1 | c.5014G>A (p.Val1672Met) c.5011G>A (p.Val1671Met) n.5097G>A | |
| 19 | g.38485669G>C | CA405653077 | RYR1 | c.5014G>C (p.Val1672Leu) c.5011G>C (p.Val1671Leu) n.5097G>C | gnomAD v4 |
| 19 | g.38485669G>T | CA405653080 | RYR1 | c.5014G>T (p.Val1672Leu) c.5011G>T (p.Val1671Leu) n.5097G>T | gnomAD v4 |
| 19 | g.38485670T>A | CA405653082 | RYR1 | c.5015T>A (p.Val1672Glu) c.5012T>A (p.Val1671Glu) n.5098T>A | ClinVar |
| 19 | g.38485670T>C | CA405653086 | RYR1 | c.5015T>C (p.Val1672Ala) c.5012T>C (p.Val1671Ala) n.5098T>C | dbSNP gnomAD v2 |
| 19 | g.38485670T>G | CA405653087 | RYR1 | c.5015T>G (p.Val1672Gly) c.5012T>G (p.Val1671Gly) n.5098T>G | |
| 19 | g.38485670T= | CA2335046179 | RYR1 | c.5015T= (p.Val1672=) c.5012T= (p.Val1671=) n.5098T= | |
| 19 | g.38485671G>A | CA507238515 | RYR1 | c.5016G>A (p.Val1672=) c.5013G>A (p.Val1671=) n.5099G>A | |
| 19 | g.38485671G>C | CA507238516 | RYR1 | c.5016G>C (p.Val1672=) c.5013G>C (p.Val1671=) n.5099G>C | |
| 19 | g.38485671G>T | CA507238517 | RYR1 | c.5016G>T (p.Val1672=) c.5013G>T (p.Val1671=) n.5099G>T | |
| 19 | g.38485672T>A | CA405653091 | RYR1 | c.5017T>A (p.Cys1673Ser) c.5014T>A (p.Cys1672Ser) n.5100T>A | |
| 19 | g.38485672T>C | CA405653093 | RYR1 | c.5017T>C (p.Cys1673Arg) c.5014T>C (p.Cys1672Arg) n.5100T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485672T>G | CA405653094 | RYR1 | c.5017T>G (p.Cys1673Gly) c.5014T>G (p.Cys1672Gly) n.5100T>G | ClinVar gnomAD v4 |
| 19 | g.38485672T= | CA2335046180 | RYR1 | c.5017T= (p.Cys1673=) c.5014T= (p.Cys1672=) n.5100T= | |
| 19 | g.38485673G>A | CA405653107 | RYR1 | c.5018G>A (p.Cys1673Tyr) c.5015G>A (p.Cys1672Tyr) n.5101G>A | |
| 19 | g.38485673G>C | CA405653112 | RYR1 | c.5018G>C (p.Cys1673Ser) c.5015G>C (p.Cys1672Ser) n.5101G>C | |
| 19 | g.38485673G>T | CA405653109 | RYR1 | c.5018G>T (p.Cys1673Phe) c.5015G>T (p.Cys1672Phe) n.5101G>T | |
| 19 | g.38485674C>A | CA405653117 | RYR1 | c.5019C>A (p.Cys1673Ter) c.5016C>A (p.Cys1672Ter) n.5102C>A | |
| 19 | g.38485674C= | CA2335046181 | RYR1 | c.5019C= (p.Cys1673=) c.5016C= (p.Cys1672=) n.5102C= | |
| 19 | g.38485674C>G | CA405653121 | RYR1 | c.5019C>G (p.Cys1673Trp) c.5016C>G (p.Cys1672Trp) n.5102C>G | |
| 19 | g.38485674C>T | CA066602 | RYR1 | c.5019C>T (p.Cys1673=) c.5016C>T (p.Cys1672=) n.5102C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485675G>A | CA405653136 | RYR1 | c.5020G>A (p.Ala1674Thr) c.5017G>A (p.Ala1673Thr) n.5103G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485675G>C | CA405653138 | RYR1 | c.5020G>C (p.Ala1674Pro) c.5017G>C (p.Ala1673Pro) n.5103G>C | |
| 19 | g.38485675G= | CA2335046182 | RYR1 | c.5020G= (p.Ala1674=) c.5017G= (p.Ala1673=) n.5103G= | |
| 19 | g.38485675G>T | CA405653142 | RYR1 | c.5020G>T (p.Ala1674Ser) c.5017G>T (p.Ala1673Ser) n.5103G>T | gnomAD v4 |
| 19 | g.38485676C>A | CA405653143 | RYR1 | c.5021C>A (p.Ala1674Asp) c.5018C>A (p.Ala1673Asp) n.5104C>A | gnomAD v4 |
| 19 | g.38485676C= | CA2335046183 | RYR1 | c.5021C= (p.Ala1674=) c.5018C= (p.Ala1673=) n.5104C= | |
| 19 | g.38485676C>G | CA405653144 | RYR1 | c.5021C>G (p.Ala1674Gly) c.5018C>G (p.Ala1673Gly) n.5104C>G | gnomAD v4 |
| 19 | g.38485676C>T | CA308092930 | RYR1 | c.5021C>T (p.Ala1674Val) c.5018C>T (p.Ala1673Val) n.5104C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485677C>A | CA507238532 | RYR1 | c.5022C>A (p.Ala1674=) c.5019C>A (p.Ala1673=) n.5105C>A | |
| 19 | g.38485677C= | CA2335046184 | RYR1 | c.5022C= (p.Ala1674=) c.5019C= (p.Ala1673=) n.5105C= | |
| 19 | g.38485677C>G | CA066605 | RYR1 | c.5022C>G (p.Ala1674=) c.5019C>G (p.Ala1673=) n.5105C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485677C>T | CA081690 | RYR1 | c.5022C>T (p.Ala1674=) c.5019C>T (p.Ala1673=) n.5105C>T | ClinVar |
| 19 | g.38485679_38485763del | CA2814345561 | RYR1 | c.5024_5108del (p.Leu1675GlnfsTer?) c.5021_5105del (p.Leu1674GlnfsTer?) n.5107_5191del | |
| 19 | g.38485678C>A | CA405653147 | RYR1 | c.5023C>A (p.Leu1675Met) c.5020C>A (p.Leu1674Met) n.5106C>A | gnomAD v4 |
| 19 | g.38485678C>G | CA405653156 | RYR1 | c.5023C>G (p.Leu1675Val) c.5020C>G (p.Leu1674Val) n.5106C>G | |
| 19 | g.38485678C>T | CA507238537 | RYR1 | c.5023C>T (p.Leu1675=) c.5020C>T (p.Leu1674=) n.5106C>T | |
| 19 | g.38485679T>A | CA405653160 | RYR1 | c.5024T>A (p.Leu1675Gln) c.5021T>A (p.Leu1674Gln) n.5107T>A | |
| 19 | g.38485679T>C | CA405653178 | RYR1 | c.5024T>C (p.Leu1675Pro) c.5021T>C (p.Leu1674Pro) n.5107T>C | ClinVar dbSNP |
| 19 | g.38485679T>G | CA405653181 | RYR1 | c.5024T>G (p.Leu1675Arg) c.5021T>G (p.Leu1674Arg) n.5107T>G | |
| 19 | g.38485680G>A | CA507238541 | RYR1 | c.5025G>A (p.Leu1675=) c.5022G>A (p.Leu1674=) n.5108G>A | dbSNP |
| 19 | g.38485680G>C | CA10651848 | RYR1 | c.5025G>C (p.Leu1675=) c.5022G>C (p.Leu1674=) n.5108G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485680G= | CA2335046185 | RYR1 | c.5025G= (p.Leu1675=) c.5022G= (p.Leu1674=) n.5108G= | |
| 19 | g.38485680G>T | CA507238543 | RYR1 | c.5025G>T (p.Leu1675=) c.5022G>T (p.Leu1674=) n.5108G>T | |
| 19 | g.38485681G>A | CA405653200 | RYR1 | c.5026G>A (p.Gly1676Ser) c.5023G>A (p.Gly1675Ser) n.5109G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485681G>C | CA405653201 | RYR1 | c.5026G>C (p.Gly1676Arg) c.5023G>C (p.Gly1675Arg) n.5109G>C | |
| 19 | g.38485681G>T | CA405653202 | RYR1 | c.5026G>T (p.Gly1676Cys) c.5023G>T (p.Gly1675Cys) n.5109G>T | |
| 19 | g.38485682G>A | CA066607 | RYR1 | c.5027G>A (p.Gly1676Asp) c.5024G>A (p.Gly1675Asp) n.5110G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485682G>C | CA405653204 | RYR1 | c.5027G>C (p.Gly1676Ala) c.5024G>C (p.Gly1675Ala) n.5110G>C | |
| 19 | g.38485682G= | CA2335046186 | RYR1 | c.5027G= (p.Gly1676=) c.5024G= (p.Gly1675=) n.5110G= | |
| 19 | g.38485682G>T | CA405653207 | RYR1 | c.5027G>T (p.Gly1676Val) c.5024G>T (p.Gly1675Val) n.5110G>T | gnomAD v4 |
| 19 | g.38485683C>A | CA507238547 | RYR1 | c.5028C>A (p.Gly1676=) c.5025C>A (p.Gly1675=) n.5111C>A | |
| 19 | g.38485683C>G | CA507238549 | RYR1 | c.5028C>G (p.Gly1676=) c.5025C>G (p.Gly1675=) n.5111C>G | |
| 19 | g.38485683C>T | CA507238551 | RYR1 | c.5028C>T (p.Gly1676=) c.5025C>T (p.Gly1675=) n.5111C>T | |
| 19 | g.38485684A>C | CA405653210 | RYR1 | c.5029A>C (p.Asn1677His) c.5026A>C (p.Asn1676His) n.5112A>C | |
| 19 | g.38485684A>G | CA405653213 | RYR1 | c.5029A>G (p.Asn1677Asp) c.5026A>G (p.Asn1676Asp) n.5112A>G | |
| 19 | g.38485684A>T | CA405653215 | RYR1 | c.5029A>T (p.Asn1677Tyr) c.5026A>T (p.Asn1676Tyr) n.5112A>T | |
| 19 | g.38485685A>C | CA405653219 | RYR1 | c.5030A>C (p.Asn1677Thr) c.5027A>C (p.Asn1676Thr) n.5113A>C | |
| 19 | g.38485685A>G | CA405653228 | RYR1 | c.5030A>G (p.Asn1677Ser) c.5027A>G (p.Asn1676Ser) n.5113A>G | |
| 19 | g.38485685A>T | CA405653223 | RYR1 | c.5030A>T (p.Asn1677Ile) c.5027A>T (p.Asn1676Ile) n.5113A>T | |
| 19 | g.38485686C>A | CA405653231 | RYR1 | c.5031C>A (p.Asn1677Lys) c.5028C>A (p.Asn1676Lys) n.5114C>A | |
| 19 | g.38485686C>G | CA405653232 | RYR1 | c.5031C>G (p.Asn1677Lys) c.5028C>G (p.Asn1676Lys) n.5114C>G | |
| 19 | g.38485686C>T | CA507238555 | RYR1 | c.5031C>T (p.Asn1677=) c.5028C>T (p.Asn1676=) n.5114C>T | gnomAD v4 |
| 19 | g.38485687A>C | CA405653233 | RYR1 | c.5032A>C (p.Asn1678His) c.5029A>C (p.Asn1677His) n.5115A>C | |
| 19 | g.38485687A>G | CA405653234 | RYR1 | c.5032A>G (p.Asn1678Asp) c.5029A>G (p.Asn1677Asp) n.5115A>G | |
| 19 | g.38485687A>T | CA405653236 | RYR1 | c.5032A>T (p.Asn1678Tyr) c.5029A>T (p.Asn1677Tyr) n.5115A>T | gnomAD v4 |
| 19 | g.38485688A= | CA2335046187 | RYR1 | c.5033A= (p.Asn1678=) c.5030A= (p.Asn1677=) n.5116A= | |
| 19 | g.38485688A>C | CA405653238 | RYR1 | c.5033A>C (p.Asn1678Thr) c.5030A>C (p.Asn1677Thr) n.5116A>C | |
| 19 | g.38485688A>G | CA066616 | RYR1 | c.5033A>G (p.Asn1678Ser) c.5030A>G (p.Asn1677Ser) n.5116A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485688A>T | CA405653241 | RYR1 | c.5033A>T (p.Asn1678Ile) c.5030A>T (p.Asn1677Ile) n.5116A>T | |
| 19 | g.38485689T>A | CA405653254 | RYR1 | c.5034T>A (p.Asn1678Lys) c.5031T>A (p.Asn1677Lys) n.5117T>A | |
| 19 | g.38485689T>C | CA507238560 | RYR1 | c.5034T>C (p.Asn1678=) c.5031T>C (p.Asn1677=) n.5117T>C | |
| 19 | g.38485689T>G | CA405653260 | RYR1 | c.5034T>G (p.Asn1678Lys) c.5031T>G (p.Asn1677Lys) n.5117T>G | |
| 19 | g.38485690C>A | CA405653265 | RYR1 | c.5035C>A (p.Arg1679Ser) c.5032C>A (p.Arg1678Ser) n.5118C>A | |
| 19 | g.38485690C= | CA2335046188 | RYR1 | c.5035C= (p.Arg1679=) c.5032C= (p.Arg1678=) n.5118C= | |
| 19 | g.38485690C>G | CA405653267 | RYR1 | c.5035C>G (p.Arg1679Gly) c.5032C>G (p.Arg1678Gly) n.5118C>G | |
| 19 | g.38485690C>T | CA405653262 | RYR1 | c.5035C>T (p.Arg1679Cys) c.5032C>T (p.Arg1678Cys) n.5118C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485691G>A | CA024479 | RYR1 | c.5036G>A (p.Arg1679His) c.5033G>A (p.Arg1678His) n.5119G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485691G>C | CA405653279 | RYR1 | c.5036G>C (p.Arg1679Pro) c.5033G>C (p.Arg1678Pro) n.5119G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485691G= | CA2335046189 | RYR1 | c.5036G= (p.Arg1679=) c.5033G= (p.Arg1678=) n.5119G= | |
| 19 | g.38485691G>T | CA405653286 | RYR1 | c.5036G>T (p.Arg1679Leu) c.5033G>T (p.Arg1678Leu) n.5119G>T | gnomAD v4 |
| 19 | g.38485692C>A | CA507238563 | RYR1 | c.5037C>A (p.Arg1679=) c.5034C>A (p.Arg1678=) n.5120C>A | gnomAD v4 |
| 19 | g.38485692C= | CA2335046190 | RYR1 | c.5037C= (p.Arg1679=) c.5034C= (p.Arg1678=) n.5120C= | |
| 19 | g.38485692C>G | CA066622 | RYR1 | c.5037C>G (p.Arg1679=) c.5034C>G (p.Arg1678=) n.5120C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485692C>T | CA066628 | RYR1 | c.5037C>T (p.Arg1679=) c.5034C>T (p.Arg1678=) n.5120C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38485693G>A | CA405653302 | RYR1 | c.5038G>A (p.Val1680Met) c.5035G>A (p.Val1679Met) n.5121G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485693G>C | CA405653301 | RYR1 | c.5038G>C (p.Val1680Leu) c.5035G>C (p.Val1679Leu) n.5121G>C | |
| 19 | g.38485693G= | CA2335046191 | RYR1 | c.5038G= (p.Val1680=) c.5035G= (p.Val1679=) n.5121G= | |
| 19 | g.38485693G>T | CA405653300 | RYR1 | c.5038G>T (p.Val1680Leu) c.5035G>T (p.Val1679Leu) n.5121G>T | |
| 19 | g.38485694T>A | CA405653306 | RYR1 | c.5039T>A (p.Val1680Glu) c.5036T>A (p.Val1679Glu) n.5122T>A | |
| 19 | g.38485694T>C | CA405653308 | RYR1 | c.5039T>C (p.Val1680Ala) c.5036T>C (p.Val1679Ala) n.5122T>C | |
| 19 | g.38485694T>G | CA405653311 | RYR1 | c.5039T>G (p.Val1680Gly) c.5036T>G (p.Val1679Gly) n.5122T>G | |
| 19 | g.38485695G>A | CA507238582 | RYR1 | c.5040G>A (p.Val1680=) c.5037G>A (p.Val1679=) n.5123G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485695G>C | CA507238580 | RYR1 | c.5040G>C (p.Val1680=) c.5037G>C (p.Val1679=) n.5123G>C | |
| 19 | g.38485695G= | CA2335046192 | RYR1 | c.5040G= (p.Val1680=) c.5037G= (p.Val1679=) n.5123G= | |
| 19 | g.38485695G>T | CA507238578 | RYR1 | c.5040G>T (p.Val1680=) c.5037G>T (p.Val1679=) n.5123G>T | |
| 19 | g.38485696G>A | CA405653315 | RYR1 | c.5041G>A (p.Ala1681Thr) c.5038G>A (p.Ala1680Thr) n.5124G>A | |
| 19 | g.38485696G>C | CA405653321 | RYR1 | c.5041G>C (p.Ala1681Pro) c.5038G>C (p.Ala1680Pro) n.5124G>C | |
| 19 | g.38485696G>T | CA405653322 | RYR1 | c.5041G>T (p.Ala1681Ser) c.5038G>T (p.Ala1680Ser) n.5124G>T | COSMIC |
| 19 | g.38485697C>A | CA308092960 | RYR1 | c.5042C>A (p.Ala1681Glu) c.5039C>A (p.Ala1680Glu) n.5125C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485697C= | CA2335046193 | RYR1 | c.5042C= (p.Ala1681=) c.5039C= (p.Ala1680=) n.5125C= | |
| 19 | g.38485697C>G | CA405653334 | RYR1 | c.5042C>G (p.Ala1681Gly) c.5039C>G (p.Ala1680Gly) n.5125C>G | |
| 19 | g.38485697C>T | CA405653329 | RYR1 | c.5042C>T (p.Ala1681Val) c.5039C>T (p.Ala1680Val) n.5125C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485698G>A | CA507238600 | RYR1 | c.5043G>A (p.Ala1681=) c.5040G>A (p.Ala1680=) n.5126G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485698G>C | CA507238597 | RYR1 | c.5043G>C (p.Ala1681=) c.5040G>C (p.Ala1680=) n.5126G>C | gnomAD v4 |
| 19 | g.38485698G= | CA2335046194 | RYR1 | c.5043G= (p.Ala1681=) c.5040G= (p.Ala1680=) n.5126G= | |
| 19 | g.38485698G>T | CA507238595 | RYR1 | c.5043G>T (p.Ala1681=) c.5040G>T (p.Ala1680=) n.5126G>T | gnomAD v4 |
| 19 | g.38485699C>A | CA405653340 | RYR1 | c.5044C>A (p.His1682Asn) c.5041C>A (p.His1681Asn) n.5127C>A | ClinVar dbSNP |
| 19 | g.38485699C= | CA2335046195 | RYR1 | c.5044C= (p.His1682=) c.5041C= (p.His1681=) n.5127C= | |
| 19 | g.38485699C>G | CA405653343 | RYR1 | c.5044C>G (p.His1682Asp) c.5041C>G (p.His1681Asp) n.5127C>G | |
| 19 | g.38485699C>T | CA066630 | RYR1 | c.5044C>T (p.His1682Tyr) c.5041C>T (p.His1681Tyr) n.5127C>T | dbSNP ExAC gnomAD v2 |
| 19 | g.38485700A>C | CA405653344 | RYR1 | c.5045A>C (p.His1682Pro) c.5042A>C (p.His1681Pro) n.5128A>C | |
| 19 | g.38485700A>G | CA405653345 | RYR1 | c.5045A>G (p.His1682Arg) c.5042A>G (p.His1681Arg) n.5128A>G | |
| 19 | g.38485700A>T | CA405653346 | RYR1 | c.5045A>T (p.His1682Leu) c.5042A>T (p.His1681Leu) n.5128A>T | gnomAD v4 |
| 19 | g.38485701C>A | CA405653350 | RYR1 | c.5046C>A (p.His1682Gln) c.5043C>A (p.His1681Gln) n.5129C>A | |
| 19 | g.38485701C= | CA2335046196 | RYR1 | c.5046C= (p.His1682=) c.5043C= (p.His1681=) n.5129C= | |
| 19 | g.38485701C>G | CA405653352 | RYR1 | c.5046C>G (p.His1682Gln) c.5043C>G (p.His1681Gln) n.5129C>G | |
| 19 | g.38485701C>T | CA066634 | RYR1 | c.5046C>T (p.His1682=) c.5043C>T (p.His1681=) n.5129C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485702G>A | CA405653357 | RYR1 | c.5047G>A (p.Ala1683Thr) c.5044G>A (p.Ala1682Thr) n.5130G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485702G>C | CA405653363 | RYR1 | c.5047G>C (p.Ala1683Pro) c.5044G>C (p.Ala1682Pro) n.5130G>C | |
| 19 | g.38485702G= | CA2335046197 | RYR1 | c.5047G= (p.Ala1683=) c.5044G= (p.Ala1682=) n.5130G= | |
| 19 | g.38485702G>T | CA405653367 | RYR1 | c.5047G>T (p.Ala1683Ser) c.5044G>T (p.Ala1682Ser) n.5130G>T | gnomAD v4 |
| 19 | g.38485703C>A | CA405653371 | RYR1 | c.5048C>A (p.Ala1683Asp) c.5045C>A (p.Ala1682Asp) n.5131C>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485703C= | CA2335046198 | RYR1 | c.5048C= (p.Ala1683=) c.5045C= (p.Ala1682=) n.5131C= | |
| 19 | g.38485703C>G | CA405653380 | RYR1 | c.5048C>G (p.Ala1683Gly) c.5045C>G (p.Ala1682Gly) n.5131C>G | |
| 19 | g.38485703C>T | CA405653378 | RYR1 | c.5048C>T (p.Ala1683Val) c.5045C>T (p.Ala1682Val) n.5131C>T | |
| 19 | g.38485704T>A | CA507238605 | RYR1 | c.5049T>A (p.Ala1683=) c.5046T>A (p.Ala1682=) n.5132T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485704T>C | CA507238606 | RYR1 | c.5049T>C (p.Ala1683=) c.5046T>C (p.Ala1682=) n.5132T>C | |
| 19 | g.38485704T>G | CA507238607 | RYR1 | c.5049T>G (p.Ala1683=) c.5046T>G (p.Ala1682=) n.5132T>G | |
| 19 | g.38485704T= | CA2335046199 | RYR1 | c.5049T= (p.Ala1683=) c.5046T= (p.Ala1682=) n.5132T= | |
| 19 | g.38485705C>A | CA405653382 | RYR1 | c.5050C>A (p.Leu1684Met) c.5047C>A (p.Leu1683Met) n.5133C>A | |
| 19 | g.38485705C>G | CA405653386 | RYR1 | c.5050C>G (p.Leu1684Val) c.5047C>G (p.Leu1683Val) n.5133C>G | |
| 19 | g.38485705C>T | CA507238608 | RYR1 | c.5050C>T (p.Leu1684=) c.5047C>T (p.Leu1683=) n.5133C>T | |
| 19 | g.38485706T>A | CA405653391 | RYR1 | c.5051T>A (p.Leu1684Gln) c.5048T>A (p.Leu1683Gln) n.5134T>A | |
| 19 | g.38485706T>C | CA405653395 | RYR1 | c.5051T>C (p.Leu1684Pro) c.5048T>C (p.Leu1683Pro) n.5134T>C | |
| 19 | g.38485706T>G | CA405653398 | RYR1 | c.5051T>G (p.Leu1684Arg) c.5048T>G (p.Leu1683Arg) n.5134T>G | |
| 19 | g.38485707G>A | CA507238610 | RYR1 | c.5052G>A (p.Leu1684=) c.5049G>A (p.Leu1683=) n.5135G>A | |
| 19 | g.38485707G>C | CA507238611 | RYR1 | c.5052G>C (p.Leu1684=) c.5049G>C (p.Leu1683=) n.5135G>C | gnomAD v4 |
| 19 | g.38485707G>T | CA507238614 | RYR1 | c.5052G>T (p.Leu1684=) c.5049G>T (p.Leu1683=) n.5135G>T | |
| 19 | g.38485708T>A | CA405653411 | RYR1 | c.5053T>A (p.Cys1685Ser) c.5050T>A (p.Cys1684Ser) n.5136T>A | |
| 19 | g.38485708T>C | CA308092971 | RYR1 | c.5053T>C (p.Cys1685Arg) c.5050T>C (p.Cys1684Arg) n.5136T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485708T>G | CA066636 | RYR1 | c.5053T>G (p.Cys1685Gly) c.5050T>G (p.Cys1684Gly) n.5136T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485708T= | CA2335046200 | RYR1 | c.5053T= (p.Cys1685=) c.5050T= (p.Cys1684=) n.5136T= | |
| 19 | g.38485709G>A | CA308092986 | RYR1 | c.5054G>A (p.Cys1685Tyr) c.5051G>A (p.Cys1684Tyr) n.5137G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485709G>C | CA405653414 | RYR1 | c.5054G>C (p.Cys1685Ser) c.5051G>C (p.Cys1684Ser) n.5137G>C | |
| 19 | g.38485709G= | CA2335046201 | RYR1 | c.5054G= (p.Cys1685=) c.5051G= (p.Cys1684=) n.5137G= | |
| 19 | g.38485709G>T | CA405653416 | RYR1 | c.5054G>T (p.Cys1685Phe) c.5051G>T (p.Cys1684Phe) n.5137G>T | |
| 19 | g.38485710C>A | CA405653418 | RYR1 | c.5055C>A (p.Cys1685Ter) c.5052C>A (p.Cys1684Ter) n.5138C>A | |
| 19 | g.38485710C= | CA2335046202 | RYR1 | c.5055C= (p.Cys1685=) c.5052C= (p.Cys1684=) n.5138C= | |
| 19 | g.38485710C>G | CA405653420 | RYR1 | c.5055C>G (p.Cys1685Trp) c.5052C>G (p.Cys1684Trp) n.5138C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485710C>T | CA066639 | RYR1 | c.5055C>T (p.Cys1685=) c.5052C>T (p.Cys1684=) n.5138C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485711A>C | CA405653424 | RYR1 | c.5056A>C (p.Ser1686Arg) c.5053A>C (p.Ser1685Arg) n.5139A>C | |
| 19 | g.38485711A>G | CA405653431 | RYR1 | c.5056A>G (p.Ser1686Gly) c.5053A>G (p.Ser1685Gly) n.5139A>G | |
| 19 | g.38485711A>T | CA405653428 | RYR1 | c.5056A>T (p.Ser1686Cys) c.5053A>T (p.Ser1685Cys) n.5139A>T | |
| 19 | g.38485712G>A | CA405653445 | RYR1 | c.5057G>A (p.Ser1686Asn) c.5054G>A (p.Ser1685Asn) n.5140G>A | gnomAD v4 |
| 19 | g.38485712G>C | CA405653450 | RYR1 | c.5057G>C (p.Ser1686Thr) c.5054G>C (p.Ser1685Thr) n.5140G>C | |
| 19 | g.38485712G>T | CA405653453 | RYR1 | c.5057G>T (p.Ser1686Ile) c.5054G>T (p.Ser1685Ile) n.5140G>T | gnomAD v4 |
| 19 | g.38485713C>A | CA405653456 | RYR1 | c.5058C>A (p.Ser1686Arg) c.5055C>A (p.Ser1685Arg) n.5141C>A | |
| 19 | g.38485713C= | CA2335046203 | RYR1 | c.5058C= (p.Ser1686=) c.5055C= (p.Ser1685=) n.5141C= | |
| 19 | g.38485713C>G | CA405653459 | RYR1 | c.5058C>G (p.Ser1686Arg) c.5055C>G (p.Ser1685Arg) n.5141C>G | |
| 19 | g.38485713C>T | CA081700 | RYR1 | c.5058C>T (p.Ser1686=) c.5055C>T (p.Ser1685=) n.5141C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485714C>A | CA405653463 | RYR1 | c.5059C>A (p.His1687Asn) c.5056C>A (p.His1686Asn) n.5142C>A | |
| 19 | g.38485714C= | CA2335046204 | RYR1 | c.5059C= (p.His1687=) c.5056C= (p.His1686=) n.5142C= | |
| 19 | g.38485714C>G | CA405653466 | RYR1 | c.5059C>G (p.His1687Asp) c.5056C>G (p.His1686Asp) n.5142C>G | |
| 19 | g.38485714C>T | CA308093005 | RYR1 | c.5059C>T (p.His1687Tyr) c.5056C>T (p.His1686Tyr) n.5142C>T | dbSNP |
| 19 | g.38485715A= | CA2335046205 | RYR1 | c.5060A= (p.His1687=) c.5057A= (p.His1686=) n.5143A= | |
| 19 | g.38485715A>C | CA405653478 | RYR1 | c.5060A>C (p.His1687Pro) c.5057A>C (p.His1686Pro) n.5143A>C | |
| 19 | g.38485715A>G | CA405653480 | RYR1 | c.5060A>G (p.His1687Arg) c.5057A>G (p.His1686Arg) n.5143A>G | |
| 19 | g.38485715A>T | CA308093012 | RYR1 | c.5060A>T (p.His1687Leu) c.5057A>T (p.His1686Leu) n.5143A>T | dbSNP |
| 19 | g.38485716C>A | CA405653490 | RYR1 | c.5061C>A (p.His1687Gln) c.5058C>A (p.His1686Gln) n.5144C>A | |
| 19 | g.38485716C= | CA2335046206 | RYR1 | c.5061C= (p.His1687=) c.5058C= (p.His1686=) n.5144C= | |
| 19 | g.38485716C>G | CA405653487 | RYR1 | c.5061C>G (p.His1687Gln) c.5058C>G (p.His1686Gln) n.5144C>G | |
| 19 | g.38485716C>T | CA507238626 | RYR1 | c.5061C>T (p.His1687=) c.5058C>T (p.His1686=) n.5144C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485717G>A | CA405653492 | RYR1 | c.5062G>A (p.Val1688Ile) c.5059G>A (p.Val1687Ile) n.5145G>A | ClinVar |
| 19 | g.38485717G>C | CA405653494 | RYR1 | c.5062G>C (p.Val1688Leu) c.5059G>C (p.Val1687Leu) n.5145G>C | |
| 19 | g.38485717G>T | CA405653493 | RYR1 | c.5062G>T (p.Val1688Leu) c.5059G>T (p.Val1687Leu) n.5145G>T | gnomAD v4 |
| 19 | g.38485718T>A | CA405653495 | RYR1 | c.5063T>A (p.Val1688Glu) c.5060T>A (p.Val1687Glu) n.5146T>A | |
| 19 | g.38485718T>C | CA405653502 | RYR1 | c.5063T>C (p.Val1688Ala) c.5060T>C (p.Val1687Ala) n.5146T>C | |
| 19 | g.38485718T>G | CA405653497 | RYR1 | c.5063T>G (p.Val1688Gly) c.5060T>G (p.Val1687Gly) n.5146T>G | gnomAD v4 |
| 19 | g.38485719A= | CA2335046207 | RYR1 | c.5064A= (p.Val1688=) c.5061A= (p.Val1687=) n.5147A= | |
| 19 | g.38485719A>C | CA507238630 | RYR1 | c.5064A>C (p.Val1688=) c.5061A>C (p.Val1687=) n.5147A>C | |
| 19 | g.38485719A>G | CA507238631 | RYR1 | c.5064A>G (p.Val1688=) c.5061A>G (p.Val1687=) n.5147A>G | |
| 19 | g.38485719A>T | CA066642 | RYR1 | c.5064A>T (p.Val1688=) c.5061A>T (p.Val1687=) n.5147A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485721_38485726dup | CA2584898015 | RYR1 | c.5066_5071dup (p.Gln1690_Ala1691insAspGln) c.5063_5068dup (p.Gln1689_Ala1690insAspGln) n.5149_5154dup | gnomAD v4 |
| 19 | g.38485720G>A | CA405653528 | RYR1 | c.5065G>A (p.Asp1689Asn) c.5062G>A (p.Asp1688Asn) n.5148G>A | dbSNP |
| 19 | g.38485720G>C | CA405653530 | RYR1 | c.5065G>C (p.Asp1689His) c.5062G>C (p.Asp1688His) n.5148G>C | gnomAD v4 |
| 19 | g.38485720G= | CA2335046208 | RYR1 | c.5065G= (p.Asp1689=) c.5062G= (p.Asp1688=) n.5148G= | |
| 19 | g.38485720G>T | CA405653534 | RYR1 | c.5065G>T (p.Asp1689Tyr) c.5062G>T (p.Asp1688Tyr) n.5148G>T | gnomAD v4 |
| 19 | g.38485721A>C | CA405653538 | RYR1 | c.5066A>C (p.Asp1689Ala) c.5063A>C (p.Asp1688Ala) n.5149A>C | |
| 19 | g.38485721A>G | CA405653546 | RYR1 | c.5066A>G (p.Asp1689Gly) c.5063A>G (p.Asp1688Gly) n.5149A>G | COSMIC |
| 19 | g.38485721A>T | CA405653550 | RYR1 | c.5066A>T (p.Asp1689Val) c.5063A>T (p.Asp1688Val) n.5149A>T | |
| 19 | g.38485722C>A | CA405653555 | RYR1 | c.5067C>A (p.Asp1689Glu) c.5064C>A (p.Asp1688Glu) n.5150C>A | |
| 19 | g.38485722C= | CA2335046209 | RYR1 | c.5067C= (p.Asp1689=) c.5064C= (p.Asp1688=) n.5150C= | |
| 19 | g.38485722C>G | CA066646 | RYR1 | c.5067C>G (p.Asp1689Glu) c.5064C>G (p.Asp1688Glu) n.5150C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485722C>T | CA507238634 | RYR1 | c.5067C>T (p.Asp1689=) c.5064C>T (p.Asp1688=) n.5150C>T | |
| 19 | g.38485723del | CA2584898016 | RYR1 | c.5068del (p.Gln1690LysfsTer?) c.5065del (p.Gln1689LysfsTer?) n.5151del | gnomAD v4 |
| 19 | g.38485723C>A | CA405653568 | RYR1 | c.5068C>A (p.Gln1690Lys) c.5065C>A (p.Gln1689Lys) n.5151C>A | |
| 19 | g.38485723C>G | CA405653563 | RYR1 | c.5068C>G (p.Gln1690Glu) c.5065C>G (p.Gln1689Glu) n.5151C>G | |
| 19 | g.38485723C>T | CA405653561 | RYR1 | c.5068C>T (p.Gln1690Ter) c.5065C>T (p.Gln1689Ter) n.5151C>T | |
| 19 | g.38485724A>C | CA405653571 | RYR1 | c.5069A>C (p.Gln1690Pro) c.5066A>C (p.Gln1689Pro) n.5152A>C | |
| 19 | g.38485724A>G | CA405653578 | RYR1 | c.5069A>G (p.Gln1690Arg) c.5066A>G (p.Gln1689Arg) n.5152A>G | |
| 19 | g.38485724A>T | CA405653579 | RYR1 | c.5069A>T (p.Gln1690Leu) c.5066A>T (p.Gln1689Leu) n.5152A>T | |
| 19 | g.38485725A>C | CA405653582 | RYR1 | c.5070A>C (p.Gln1690His) c.5067A>C (p.Gln1689His) n.5153A>C | |
| 19 | g.38485725A>G | CA507238638 | RYR1 | c.5070A>G (p.Gln1690=) c.5067A>G (p.Gln1689=) n.5153A>G | |
| 19 | g.38485725A>T | CA405653586 | RYR1 | c.5070A>T (p.Gln1690His) c.5067A>T (p.Gln1689His) n.5153A>T | |
| 19 | g.38485726G>A | CA405653588 | RYR1 | c.5071G>A (p.Ala1691Thr) c.5068G>A (p.Ala1690Thr) n.5154G>A | |
| 19 | g.38485726G>C | CA405653590 | RYR1 | c.5071G>C (p.Ala1691Pro) c.5068G>C (p.Ala1690Pro) n.5154G>C | |
| 19 | g.38485726G= | CA2335046210 | RYR1 | c.5071G= (p.Ala1691=) c.5068G= (p.Ala1690=) n.5154G= | |
| 19 | g.38485726G>T | CA405653596 | RYR1 | c.5071G>T (p.Ala1691Ser) c.5068G>T (p.Ala1690Ser) n.5154G>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485727C>A | CA405653600 | RYR1 | c.5072C>A (p.Ala1691Asp) c.5069C>A (p.Ala1690Asp) n.5155C>A | |
| 19 | g.38485727C= | CA2335046213 | RYR1 | c.5072C= (p.Ala1691=) c.5069C= (p.Ala1690=) n.5155C= | |
| 19 | g.38485727C>G | CA405653602 | RYR1 | c.5072C>G (p.Ala1691Gly) c.5069C>G (p.Ala1690Gly) n.5155C>G | |
| 19 | g.38485727C>T | CA066650 | RYR1 | c.5072C>T (p.Ala1691Val) c.5069C>T (p.Ala1690Val) n.5155C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485728T>A | CA507238641 | RYR1 | c.5073T>A (p.Ala1691=) c.5070T>A (p.Ala1690=) n.5156T>A | |
| 19 | g.38485728T>C | CA507238645 | RYR1 | c.5073T>C (p.Ala1691=) c.5070T>C (p.Ala1690=) n.5156T>C | |
| 19 | g.38485728T>G | CA507238643 | RYR1 | c.5073T>G (p.Ala1691=) c.5070T>G (p.Ala1690=) n.5156T>G | |
| 19 | g.38485729C>A | CA405653608 | RYR1 | c.5074C>A (p.Gln1692Lys) c.5071C>A (p.Gln1691Lys) n.5157C>A | |
| 19 | g.38485729C>G | CA405653619 | RYR1 | c.5074C>G (p.Gln1692Glu) c.5071C>G (p.Gln1691Glu) n.5157C>G | COSMIC |
| 19 | g.38485729C>T | CA405653605 | RYR1 | c.5074C>T (p.Gln1692Ter) c.5071C>T (p.Gln1691Ter) n.5157C>T | gnomAD v4 |
| 19 | g.38485730A>C | CA405653623 | RYR1 | c.5075A>C (p.Gln1692Pro) c.5072A>C (p.Gln1691Pro) n.5158A>C | |
| 19 | g.38485730A>G | CA405653626 | RYR1 | c.5075A>G (p.Gln1692Arg) c.5072A>G (p.Gln1691Arg) n.5158A>G | |
| 19 | g.38485730A>T | CA405653628 | RYR1 | c.5075A>T (p.Gln1692Leu) c.5072A>T (p.Gln1691Leu) n.5158A>T | |
| 19 | g.38485731G>A | CA507238648 | RYR1 | c.5076G>A (p.Gln1692=) c.5073G>A (p.Gln1691=) n.5159G>A | |
| 19 | g.38485731G>C | CA405653642 | RYR1 | c.5076G>C (p.Gln1692His) c.5073G>C (p.Gln1691His) n.5159G>C | |
| 19 | g.38485731G>T | CA405653645 | RYR1 | c.5076G>T (p.Gln1692His) c.5073G>T (p.Gln1691His) n.5159G>T | |
| 19 | g.38485731_38485732delinsGC | CA2335046215 | RYR1 | c.5076_5077delinsGC (p.Gln1692=) c.5073_5074delinsGC (p.Gln1691=) n.5159_5160delinsGC | |
| 19 | g.38485731_38485733delinsGCT | CA2335046216 | RYR1 | c.5076_5078delinsGCT (p.Gln1692=) c.5073_5075delinsGCT (p.Gln1691=) n.5159_5161delinsGCT | |
| 19 | g.38485732del | CA066653 | RYR1 | c.5077del (p.Leu1693CysfsTer?) c.5074del (p.Leu1692CysfsTer?) n.5160del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485732C>A | CA405653654 | RYR1 | c.5077C>A (p.Leu1693Met) c.5074C>A (p.Leu1692Met) n.5160C>A | |
| 19 | g.38485732C>G | CA405653648 | RYR1 | c.5077C>G (p.Leu1693Val) c.5074C>G (p.Leu1692Val) n.5160C>G | |
| 19 | g.38485732C>T | CA507238649 | RYR1 | c.5077C>T (p.Leu1693=) c.5074C>T (p.Leu1692=) n.5160C>T | |
| 19 | g.38485732_38485733delinsG | CA915952989 | RYR1 | c.5077_5078delinsG (p.Leu1693GlyfsTer?) c.5074_5075delinsG (p.Leu1692GlyfsTer?) n.5160_5161delinsG | ClinVar dbSNP |
| 19 | g.38485733T>A | CA405653655 | RYR1 | c.5078T>A (p.Leu1693Gln) c.5075T>A (p.Leu1692Gln) n.5161T>A | gnomAD v4 |
| 19 | g.38485733T>C | CA405653659 | RYR1 | c.5078T>C (p.Leu1693Pro) c.5075T>C (p.Leu1692Pro) n.5161T>C | |
| 19 | g.38485733T>G | CA066657 | RYR1 | c.5078T>G (p.Leu1693Arg) c.5075T>G (p.Leu1692Arg) n.5161T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485733T= | CA2335046219 | RYR1 | c.5078T= (p.Leu1693=) c.5075T= (p.Leu1692=) n.5161T= | |
| 19 | g.38485734G>A | CA507238650 | RYR1 | c.5079G>A (p.Leu1693=) c.5076G>A (p.Leu1692=) n.5162G>A | |
| 19 | g.38485734G>C | CA507238652 | RYR1 | c.5079G>C (p.Leu1693=) c.5076G>C (p.Leu1692=) n.5162G>C | |
| 19 | g.38485734G= | CA2335046220 | RYR1 | c.5079G= (p.Leu1693=) c.5076G= (p.Leu1692=) n.5162G= | |
| 19 | g.38485734G>T | CA507238651 | RYR1 | c.5079G>T (p.Leu1693=) c.5076G>T (p.Leu1692=) n.5162G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485735del | CA081704 | RYR1 | c.5080del (p.Leu1694CysfsTer?) c.5077del (p.Leu1693CysfsTer?) n.5163del | |
| 19 | g.38485735C>A | CA405653673 | RYR1 | c.5080C>A (p.Leu1694Met) c.5077C>A (p.Leu1693Met) n.5163C>A | |
| 19 | g.38485735C>G | CA405653677 | RYR1 | c.5080C>G (p.Leu1694Val) c.5077C>G (p.Leu1693Val) n.5163C>G | |
| 19 | g.38485735C>T | CA507238653 | RYR1 | c.5080C>T (p.Leu1694=) c.5077C>T (p.Leu1693=) n.5163C>T | |
| 19 | g.38485736T>A | CA405653681 | RYR1 | c.5081T>A (p.Leu1694Gln) c.5078T>A (p.Leu1693Gln) n.5164T>A | |
| 19 | g.38485736T>C | CA405653685 | RYR1 | c.5081T>C (p.Leu1694Pro) c.5078T>C (p.Leu1693Pro) n.5164T>C | gnomAD v4 |
| 19 | g.38485736T>G | CA081705 | RYR1 | c.5081T>G (p.Leu1694Arg) c.5078T>G (p.Leu1693Arg) n.5164T>G | |
| 19 | g.38485737G>A | CA507238656 | RYR1 | c.5082G>A (p.Leu1694=) c.5079G>A (p.Leu1693=) n.5165G>A | |
| 19 | g.38485737G>C | CA507238657 | RYR1 | c.5082G>C (p.Leu1694=) c.5079G>C (p.Leu1693=) n.5165G>C | |
| 19 | g.38485737G>T | CA507238659 | RYR1 | c.5082G>T (p.Leu1694=) c.5079G>T (p.Leu1693=) n.5165G>T | gnomAD v4 |
| 19 | g.38485738C>A | CA405653689 | RYR1 | c.5083C>A (p.His1695Asn) c.5080C>A (p.His1694Asn) n.5166C>A | |
| 19 | g.38485738C>G | CA405653692 | RYR1 | c.5083C>G (p.His1695Asp) c.5080C>G (p.His1694Asp) n.5166C>G | |
| 19 | g.38485738C>T | CA405653694 | RYR1 | c.5083C>T (p.His1695Tyr) c.5080C>T (p.His1694Tyr) n.5166C>T | dbSNP gnomAD v4 |
| 19 | g.38485739A= | CA2335046222 | RYR1 | c.5084A= (p.His1695=) c.5081A= (p.His1694=) n.5167A= | |
| 19 | g.38485739A>C | CA405653695 | RYR1 | c.5084A>C (p.His1695Pro) c.5081A>C (p.His1694Pro) n.5167A>C | |
| 19 | g.38485739A>G | CA405653696 | RYR1 | c.5084A>G (p.His1695Arg) c.5081A>G (p.His1694Arg) n.5167A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485739A>T | CA405653697 | RYR1 | c.5084A>T (p.His1695Leu) c.5081A>T (p.His1694Leu) n.5167A>T | |
| 19 | g.38485740C>A | CA405653698 | RYR1 | c.5085C>A (p.His1695Gln) c.5082C>A (p.His1694Gln) n.5168C>A | |
| 19 | g.38485740C= | CA2335046224 | RYR1 | c.5085C= (p.His1695=) c.5082C= (p.His1694=) n.5168C= | |
| 19 | g.38485740C>G | CA405653700 | RYR1 | c.5085C>G (p.His1695Gln) c.5082C>G (p.His1694Gln) n.5168C>G | |
| 19 | g.38485740C>T | CA066661 | RYR1 | c.5085C>T (p.His1695=) c.5082C>T (p.His1694=) n.5168C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485741G>A | CA405653701 | RYR1 | c.5086G>A (p.Ala1696Thr) c.5083G>A (p.Ala1695Thr) n.5169G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485741G>C | CA405653702 | RYR1 | c.5086G>C (p.Ala1696Pro) c.5083G>C (p.Ala1695Pro) n.5169G>C | |
| 19 | g.38485741G= | CA2335046225 | RYR1 | c.5086G= (p.Ala1696=) c.5083G= (p.Ala1695=) n.5169G= | |
| 19 | g.38485741G>T | CA405653703 | RYR1 | c.5086G>T (p.Ala1696Ser) c.5083G>T (p.Ala1695Ser) n.5169G>T | gnomAD v4 |
| 19 | g.38485742C>A | CA405653709 | RYR1 | c.5087C>A (p.Ala1696Asp) c.5084C>A (p.Ala1695Asp) n.5170C>A | |
| 19 | g.38485742C>G | CA405653711 | RYR1 | c.5087C>G (p.Ala1696Gly) c.5084C>G (p.Ala1695Gly) n.5170C>G | |
| 19 | g.38485742C>T | CA405653706 | RYR1 | c.5087C>T (p.Ala1696Val) c.5084C>T (p.Ala1695Val) n.5170C>T | gnomAD v4 |
| 19 | g.38485743C>A | CA507238662 | RYR1 | c.5088C>A (p.Ala1696=) c.5085C>A (p.Ala1695=) n.5171C>A | |
| 19 | g.38485743C>G | CA507238663 | RYR1 | c.5088C>G (p.Ala1696=) c.5085C>G (p.Ala1695=) n.5171C>G | gnomAD v4 |
| 19 | g.38485743C>T | CA081706 | RYR1 | c.5088C>T (p.Ala1696=) c.5085C>T (p.Ala1695=) n.5171C>T | |
| 19 | g.38485744C>A | CA405653716 | RYR1 | c.5089C>A (p.Leu1697Met) c.5086C>A (p.Leu1696Met) n.5172C>A | |
| 19 | g.38485744C>G | CA405653714 | RYR1 | c.5089C>G (p.Leu1697Val) c.5086C>G (p.Leu1696Val) n.5172C>G | |
| 19 | g.38485744C>T | CA507238665 | RYR1 | c.5089C>T (p.Leu1697=) c.5086C>T (p.Leu1696=) n.5172C>T | ClinVar |
| 19 | g.38485745T>A | CA405653717 | RYR1 | c.5090T>A (p.Leu1697Gln) c.5087T>A (p.Leu1696Gln) n.5173T>A | |
| 19 | g.38485745T>C | CA405653719 | RYR1 | c.5090T>C (p.Leu1697Pro) c.5087T>C (p.Leu1696Pro) n.5173T>C | |
| 19 | g.38485745T>G | CA405653723 | RYR1 | c.5090T>G (p.Leu1697Arg) c.5087T>G (p.Leu1696Arg) n.5173T>G | |
| 19 | g.38485746G>A | CA507238666 | RYR1 | c.5091G>A (p.Leu1697=) c.5088G>A (p.Leu1696=) n.5174G>A | gnomAD v4 |
| 19 | g.38485746G>C | CA507238667 | RYR1 | c.5091G>C (p.Leu1697=) c.5088G>C (p.Leu1696=) n.5174G>C | |
| 19 | g.38485746G>T | CA507238668 | RYR1 | c.5091G>T (p.Leu1697=) c.5088G>T (p.Leu1696=) n.5174G>T | gnomAD v4 |