| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38485780G>A | CA405653871 | RYR1 | c.5125G>A (p.Gly1709Ser) c.5122G>A (p.Gly1708Ser) n.5208G>A | |
| 19 | g.38485780G>C | CA405653872 | RYR1 | c.5125G>C (p.Gly1709Arg) c.5122G>C (p.Gly1708Arg) n.5208G>C | |
| 19 | g.38485780G>T | CA405653875 | RYR1 | c.5125G>T (p.Gly1709Cys) c.5122G>T (p.Gly1708Cys) n.5208G>T | |
| 19 | g.38485781G>A | CA405653882 | RYR1 | c.5126G>A (p.Gly1709Asp) c.5123G>A (p.Gly1708Asp) n.5209G>A | dbSNP |
| 19 | g.38485781G>C | CA405653880 | RYR1 | c.5126G>C (p.Gly1709Ala) c.5123G>C (p.Gly1708Ala) n.5209G>C | |
| 19 | g.38485781G= | CA2335046237 | RYR1 | c.5126G= (p.Gly1709=) c.5123G= (p.Gly1708=) n.5209G= | |
| 19 | g.38485781G>T | CA405653878 | RYR1 | c.5126G>T (p.Gly1709Val) c.5123G>T (p.Gly1708Val) n.5209G>T | |
| 19 | g.38485782C>A | CA507238704 | RYR1 | c.5127C>A (p.Gly1709=) c.5124C>A (p.Gly1708=) n.5210C>A | |
| 19 | g.38485782C= | CA2335046238 | RYR1 | c.5127C= (p.Gly1709=) c.5124C= (p.Gly1708=) n.5210C= | |
| 19 | g.38485782C>G | CA507238705 | RYR1 | c.5127C>G (p.Gly1709=) c.5124C>G (p.Gly1708=) n.5210C>G | |
| 19 | g.38485782C>T | CA507238706 | RYR1 | c.5127C>T (p.Gly1709=) c.5124C>T (p.Gly1708=) n.5210C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485783T>A | CA405653885 | RYR1 | c.5128T>A (p.Tyr1710Asn) c.5125T>A (p.Tyr1709Asn) n.5211T>A | |
| 19 | g.38485783T>C | CA405653888 | RYR1 | c.5128T>C (p.Tyr1710His) c.5125T>C (p.Tyr1709His) n.5211T>C | |
| 19 | g.38485783T>G | CA405653890 | RYR1 | c.5128T>G (p.Tyr1710Asp) c.5125T>G (p.Tyr1709Asp) n.5211T>G | |
| 19 | g.38485784A>C | CA405653894 | RYR1 | c.5129A>C (p.Tyr1710Ser) c.5126A>C (p.Tyr1709Ser) n.5212A>C | |
| 19 | g.38485784A>G | CA405653896 | RYR1 | c.5129A>G (p.Tyr1710Cys) c.5126A>G (p.Tyr1709Cys) n.5212A>G | gnomAD v4 |
| 19 | g.38485784A>T | CA405653899 | RYR1 | c.5129A>T (p.Tyr1710Phe) c.5126A>T (p.Tyr1709Phe) n.5212A>T | ClinVar |
| 19 | g.38485785C>A | CA405653902 | RYR1 | c.5130C>A (p.Tyr1710Ter) c.5127C>A (p.Tyr1709Ter) n.5213C>A | |
| 19 | g.38485785C>G | CA405653903 | RYR1 | c.5130C>G (p.Tyr1710Ter) c.5127C>G (p.Tyr1709Ter) n.5213C>G | |
| 19 | g.38485785C>T | CA507238707 | RYR1 | c.5130C>T (p.Tyr1710=) c.5127C>T (p.Tyr1709=) n.5213C>T | |
| 19 | g.38485786T>A | CA405653906 | RYR1 | c.5131T>A (p.Tyr1711Asn) c.5128T>A (p.Tyr1710Asn) n.5214T>A | |
| 19 | g.38485786T>C | CA405653908 | RYR1 | c.5131T>C (p.Tyr1711His) c.5128T>C (p.Tyr1710His) n.5214T>C | |
| 19 | g.38485786T>G | CA405653911 | RYR1 | c.5131T>G (p.Tyr1711Asp) c.5128T>G (p.Tyr1710Asp) n.5214T>G | |
| 19 | g.38485787A= | CA2335046239 | RYR1 | c.5132A= (p.Tyr1711=) c.5129A= (p.Tyr1710=) n.5215A= | |
| 19 | g.38485787A>C | CA16607793 | RYR1 | c.5132A>C (p.Tyr1711Ser) c.5129A>C (p.Tyr1710Ser) n.5215A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485787A>G | CA066692 | RYR1 | c.5132A>G (p.Tyr1711Cys) c.5129A>G (p.Tyr1710Cys) n.5215A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485787A>T | CA066695 | RYR1 | c.5132A>T (p.Tyr1711Phe) c.5129A>T (p.Tyr1710Phe) n.5215A>T | dbSNP ExAC |
| 19 | g.38485788T>A | CA405653923 | RYR1 | c.5133T>A (p.Tyr1711Ter) c.5130T>A (p.Tyr1710Ter) n.5216T>A | |
| 19 | g.38485788T>C | CA507238712 | RYR1 | c.5133T>C (p.Tyr1711=) c.5130T>C (p.Tyr1710=) n.5216T>C | |
| 19 | g.38485788T>G | CA405653925 | RYR1 | c.5133T>G (p.Tyr1711Ter) c.5130T>G (p.Tyr1710Ter) n.5216T>G | |
| 19 | g.38485789G>A | CA405653928 | RYR1 | c.5134G>A (p.Asp1712Asn) c.5131G>A (p.Asp1711Asn) n.5217G>A | ClinVar dbSNP |
| 19 | g.38485789G>C | CA405653930 | RYR1 | c.5134G>C (p.Asp1712His) c.5131G>C (p.Asp1711His) n.5217G>C | |
| 19 | g.38485789G>T | CA405653931 | RYR1 | c.5134G>T (p.Asp1712Tyr) c.5131G>T (p.Asp1711Tyr) n.5217G>T | |
| 19 | g.38485790A>C | CA405653933 | RYR1 | c.5135A>C (p.Asp1712Ala) c.5132A>C (p.Asp1711Ala) n.5218A>C | |
| 19 | g.38485790A>G | CA081716 | RYR1 | c.5135A>G (p.Asp1712Gly) c.5132A>G (p.Asp1711Gly) n.5218A>G | |
| 19 | g.38485790A>T | CA081717 | RYR1 | c.5135A>T (p.Asp1712Val) c.5132A>T (p.Asp1711Val) n.5218A>T | |
| 19 | g.38485790_38485793delinsACCT | CA2335046240 | RYR1 | c.5135_5138delinsACCT (p.Asp1712=) c.5132_5135delinsACCT (p.Asp1711=) n.5218_5221delinsACCT | |
| 19 | g.38485791C>A | CA405653935 | RYR1 | c.5136C>A (p.Asp1712Glu) c.5133C>A (p.Asp1711Glu) n.5219C>A | |
| 19 | g.38485791C= | CA2335046241 | RYR1 | c.5136C= (p.Asp1712=) c.5133C= (p.Asp1711=) n.5219C= | |
| 19 | g.38485791C>G | CA405653936 | RYR1 | c.5136C>G (p.Asp1712Glu) c.5133C>G (p.Asp1711Glu) n.5219C>G | |
| 19 | g.38485791C>T | CA507238717 | RYR1 | c.5136C>T (p.Asp1712=) c.5133C>T (p.Asp1711=) n.5219C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485795_38485797del | CA633066587 | RYR1 | c.5140_5142del (p.Leu1714del) c.5137_5139del (p.Leu1713del) n.5223_5225del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485792C>A | CA405653937 | RYR1 | c.5137C>A (p.Leu1713Ile) c.5134C>A (p.Leu1712Ile) n.5220C>A | |
| 19 | g.38485792C= | CA2335046242 | RYR1 | c.5137C= (p.Leu1713=) c.5134C= (p.Leu1712=) n.5220C= | |
| 19 | g.38485792C>G | CA405653939 | RYR1 | c.5137C>G (p.Leu1713Val) c.5134C>G (p.Leu1712Val) n.5220C>G | dbSNP |
| 19 | g.38485792C>T | CA405653940 | RYR1 | c.5137C>T (p.Leu1713Phe) c.5134C>T (p.Leu1712Phe) n.5220C>T | |
| 19 | g.38485793T>A | CA405653941 | RYR1 | c.5138T>A (p.Leu1713His) c.5135T>A (p.Leu1712His) n.5221T>A | |
| 19 | g.38485793T>C | CA405653944 | RYR1 | c.5138T>C (p.Leu1713Pro) c.5135T>C (p.Leu1712Pro) n.5221T>C | |
| 19 | g.38485793T>G | CA405653942 | RYR1 | c.5138T>G (p.Leu1713Arg) c.5135T>G (p.Leu1712Arg) n.5221T>G | |
| 19 | g.38485794C>A | CA507238720 | RYR1 | c.5139C>A (p.Leu1713=) c.5136C>A (p.Leu1712=) n.5222C>A | |
| 19 | g.38485794C= | CA2335046244 | RYR1 | c.5139C= (p.Leu1713=) c.5136C= (p.Leu1712=) n.5222C= | |
| 19 | g.38485794C>G | CA507238722 | RYR1 | c.5139C>G (p.Leu1713=) c.5136C>G (p.Leu1712=) n.5222C>G | |
| 19 | g.38485794C>T | CA507238725 | RYR1 | c.5139C>T (p.Leu1713=) c.5136C>T (p.Leu1712=) n.5222C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485795C>A | CA405653946 | RYR1 | c.5140C>A (p.Leu1714Ile) c.5137C>A (p.Leu1713Ile) n.5223C>A | |
| 19 | g.38485795C>G | CA405653947 | RYR1 | c.5140C>G (p.Leu1714Val) c.5137C>G (p.Leu1713Val) n.5223C>G | |
| 19 | g.38485795C>T | CA405653949 | RYR1 | c.5140C>T (p.Leu1714Phe) c.5137C>T (p.Leu1713Phe) n.5223C>T | gnomAD v4 |
| 19 | g.38485796T>A | CA405653950 | RYR1 | c.5141T>A (p.Leu1714His) c.5138T>A (p.Leu1713His) n.5224T>A | |
| 19 | g.38485796T>C | CA405653951 | RYR1 | c.5141T>C (p.Leu1714Pro) c.5138T>C (p.Leu1713Pro) n.5224T>C | |
| 19 | g.38485796T>G | CA405653953 | RYR1 | c.5141T>G (p.Leu1714Arg) c.5138T>G (p.Leu1713Arg) n.5224T>G | |
| 19 | g.38485797C>A | CA507238728 | RYR1 | c.5142C>A (p.Leu1714=) c.5139C>A (p.Leu1713=) n.5225C>A | |
| 19 | g.38485797C= | CA2335046245 | RYR1 | c.5142C= (p.Leu1714=) c.5139C= (p.Leu1713=) n.5225C= | |
| 19 | g.38485797C>G | CA507238729 | RYR1 | c.5142C>G (p.Leu1714=) c.5139C>G (p.Leu1713=) n.5225C>G | |
| 19 | g.38485797C>T | CA308093225 | RYR1 | c.5142C>T (p.Leu1714=) c.5139C>T (p.Leu1713=) n.5225C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485798A= | CA2335046247 | RYR1 | c.5143A= (p.Ile1715=) c.5140A= (p.Ile1714=) n.5226A= | |
| 19 | g.38485798A>C | CA405653956 | RYR1 | c.5143A>C (p.Ile1715Leu) c.5140A>C (p.Ile1714Leu) n.5226A>C | gnomAD v4 |
| 19 | g.38485798A>G | CA405653957 | RYR1 | c.5143A>G (p.Ile1715Val) c.5140A>G (p.Ile1714Val) n.5226A>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485798A>T | CA405653959 | RYR1 | c.5143A>T (p.Ile1715Phe) c.5140A>T (p.Ile1714Phe) n.5226A>T | |
| 19 | g.38485799T>A | CA405653963 | RYR1 | c.5144T>A (p.Ile1715Asn) c.5141T>A (p.Ile1714Asn) n.5227T>A | |
| 19 | g.38485799T>C | CA405653964 | RYR1 | c.5144T>C (p.Ile1715Thr) c.5141T>C (p.Ile1714Thr) n.5227T>C | |
| 19 | g.38485799T>G | CA405653961 | RYR1 | c.5144T>G (p.Ile1715Ser) c.5141T>G (p.Ile1714Ser) n.5227T>G | |
| 19 | g.38485800C>A | CA507238733 | RYR1 | c.5145C>A (p.Ile1715=) c.5142C>A (p.Ile1714=) n.5228C>A | gnomAD v4 |
| 19 | g.38485800C>G | CA405653965 | RYR1 | c.5145C>G (p.Ile1715Met) c.5142C>G (p.Ile1714Met) n.5228C>G | gnomAD v4 |
| 19 | g.38485800C>T | CA507238734 | RYR1 | c.5145C>T (p.Ile1715=) c.5142C>T (p.Ile1714=) n.5228C>T | |
| 19 | g.38485801A>C | CA405653967 | RYR1 | c.5146A>C (p.Ser1716Arg) c.5143A>C (p.Ser1715Arg) n.5229A>C | |
| 19 | g.38485801A>G | CA405653969 | RYR1 | c.5146A>G (p.Ser1716Gly) c.5143A>G (p.Ser1715Gly) n.5229A>G | gnomAD v4 |
| 19 | g.38485801A>T | CA405653971 | RYR1 | c.5146A>T (p.Ser1716Cys) c.5143A>T (p.Ser1715Cys) n.5229A>T | |
| 19 | g.38485802G>A | CA405653972 | RYR1 | c.5147G>A (p.Ser1716Asn) c.5144G>A (p.Ser1715Asn) n.5230G>A | |
| 19 | g.38485802G>C | CA405653973 | RYR1 | c.5147G>C (p.Ser1716Thr) c.5144G>C (p.Ser1715Thr) n.5230G>C | ClinVar |
| 19 | g.38485802G>T | CA405653975 | RYR1 | c.5147G>T (p.Ser1716Ile) c.5144G>T (p.Ser1715Ile) n.5230G>T | |
| 19 | g.38485803C>A | CA405653977 | RYR1 | c.5148C>A (p.Ser1716Arg) c.5145C>A (p.Ser1715Arg) n.5231C>A | |
| 19 | g.38485803C>G | CA405653979 | RYR1 | c.5148C>G (p.Ser1716Arg) c.5145C>G (p.Ser1715Arg) n.5231C>G | |
| 19 | g.38485803C>T | CA507238736 | RYR1 | c.5148C>T (p.Ser1716=) c.5145C>T (p.Ser1715=) n.5231C>T | ClinVar gnomAD v4 |
| 19 | g.38485804A>C | CA405653980 | RYR1 | c.5149A>C (p.Ile1717Leu) c.5146A>C (p.Ile1716Leu) n.5232A>C | |
| 19 | g.38485804A>G | CA405653981 | RYR1 | c.5149A>G (p.Ile1717Val) c.5146A>G (p.Ile1716Val) n.5232A>G | |
| 19 | g.38485804A>T | CA405653983 | RYR1 | c.5149A>T (p.Ile1717Phe) c.5146A>T (p.Ile1716Phe) n.5232A>T | |
| 19 | g.38485805T>A | CA405653985 | RYR1 | c.5150T>A (p.Ile1717Asn) c.5147T>A (p.Ile1716Asn) n.5233T>A | dbSNP gnomAD v4 |
| 19 | g.38485805T>C | CA405653986 | RYR1 | c.5150T>C (p.Ile1717Thr) c.5147T>C (p.Ile1716Thr) n.5233T>C | dbSNP |
| 19 | g.38485805T>G | CA405653987 | RYR1 | c.5150T>G (p.Ile1717Ser) c.5147T>G (p.Ile1716Ser) n.5233T>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485805T= | CA2335046248 | RYR1 | c.5150T= (p.Ile1717=) c.5147T= (p.Ile1716=) n.5233T= | |
| 19 | g.38485806C>A | CA507238741 | RYR1 | c.5151C>A (p.Ile1717=) c.5148C>A (p.Ile1716=) n.5234C>A | |
| 19 | g.38485806C>G | CA405653989 | RYR1 | c.5151C>G (p.Ile1717Met) c.5148C>G (p.Ile1716Met) n.5234C>G | |
| 19 | g.38485806C>T | CA507238740 | RYR1 | c.5151C>T (p.Ile1717=) c.5148C>T (p.Ile1716=) n.5234C>T | gnomAD v4 |
| 19 | g.38485807C>A | CA405653991 | RYR1 | c.5152C>A (p.His1718Asn) c.5149C>A (p.His1717Asn) n.5235C>A | |
| 19 | g.38485807C>G | CA405653993 | RYR1 | c.5152C>G (p.His1718Asp) c.5149C>G (p.His1717Asp) n.5235C>G | |
| 19 | g.38485807C>T | CA405653994 | RYR1 | c.5152C>T (p.His1718Tyr) c.5149C>T (p.His1717Tyr) n.5235C>T | |
| 19 | g.38485808A= | CA2335046249 | RYR1 | c.5153A= (p.His1718=) c.5150A= (p.His1717=) n.5236A= | |
| 19 | g.38485808A>C | CA066701 | RYR1 | c.5153A>C (p.His1718Pro) c.5150A>C (p.His1717Pro) n.5236A>C | dbSNP ExAC gnomAD v2 |
| 19 | g.38485808A>G | CA405653996 | RYR1 | c.5153A>G (p.His1718Arg) c.5150A>G (p.His1717Arg) n.5236A>G | |
| 19 | g.38485808A>T | CA405653998 | RYR1 | c.5153A>T (p.His1718Leu) c.5150A>T (p.His1717Leu) n.5236A>T | |
| 19 | g.38485809C>A | CA405653999 | RYR1 | c.5154C>A (p.His1718Gln) c.5151C>A (p.His1717Gln) n.5237C>A | |
| 19 | g.38485809C>G | CA405654000 | RYR1 | c.5154C>G (p.His1718Gln) c.5151C>G (p.His1717Gln) n.5237C>G | |
| 19 | g.38485809C>T | CA507353151 | RYR1 | c.5154C>T (p.His1718=) c.5151C>T (p.His1717=) n.5237C>T | gnomAD v4 |
| 19 | g.38485810C>A | CA066705 | RYR1 | c.5155C>A (p.Leu1719Ile) c.5152C>A (p.Leu1718Ile) n.5238C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485810C= | CA2335046251 | RYR1 | c.5155C= (p.Leu1719=) c.5152C= (p.Leu1718=) n.5238C= | |
| 19 | g.38485810C>G | CA405654002 | RYR1 | c.5155C>G (p.Leu1719Val) c.5152C>G (p.Leu1718Val) n.5238C>G | |
| 19 | g.38485810C>T | CA405654003 | RYR1 | c.5155C>T (p.Leu1719Phe) c.5152C>T (p.Leu1718Phe) n.5238C>T | |
| 19 | g.38485811T>A | CA405654005 | RYR1 | c.5156T>A (p.Leu1719His) c.5153T>A (p.Leu1718His) n.5239T>A | |
| 19 | g.38485811T>C | CA405654006 | RYR1 | c.5156T>C (p.Leu1719Pro) c.5153T>C (p.Leu1718Pro) n.5239T>C | |
| 19 | g.38485811T>G | CA405654007 | RYR1 | c.5156T>G (p.Leu1719Arg) c.5153T>G (p.Leu1718Arg) n.5239T>G | |
| 19 | g.38485812C>A | CA507353155 | RYR1 | c.5157C>A (p.Leu1719=) c.5154C>A (p.Leu1718=) n.5240C>A | |
| 19 | g.38485812C= | CA2335046253 | RYR1 | c.5157C= (p.Leu1719=) c.5154C= (p.Leu1718=) n.5240C= | |
| 19 | g.38485812C>G | CA507353156 | RYR1 | c.5157C>G (p.Leu1719=) c.5154C>G (p.Leu1718=) n.5240C>G | |
| 19 | g.38485812C>T | CA066708 | RYR1 | c.5157C>T (p.Leu1719=) c.5154C>T (p.Leu1718=) n.5240C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485813G>A | CA066711 | RYR1 | c.5158G>A (p.Glu1720Lys) c.5155G>A (p.Glu1719Lys) n.5241G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485813G>C | CA405654009 | RYR1 | c.5158G>C (p.Glu1720Gln) c.5155G>C (p.Glu1719Gln) n.5241G>C | |
| 19 | g.38485813G= | CA2335046254 | RYR1 | c.5158G= (p.Glu1720=) c.5155G= (p.Glu1719=) n.5241G= | |
| 19 | g.38485813G>T | CA405654010 | RYR1 | c.5158G>T (p.Glu1720Ter) c.5155G>T (p.Glu1719Ter) n.5241G>T | ClinVar gnomAD v4 |
| 19 | g.38485814A= | CA2335046255 | RYR1 | c.5159A= (p.Glu1720=) c.5156A= (p.Glu1719=) n.5242A= | |
| 19 | g.38485814A>C | CA405654011 | RYR1 | c.5159A>C (p.Glu1720Ala) c.5156A>C (p.Glu1719Ala) n.5242A>C | |
| 19 | g.38485814A>G | CA405654013 | RYR1 | c.5159A>G (p.Glu1720Gly) c.5156A>G (p.Glu1719Gly) n.5242A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485814A>T | CA405654015 | RYR1 | c.5159A>T (p.Glu1720Val) c.5156A>T (p.Glu1719Val) n.5242A>T | |
| 19 | g.38485815A= | CA2335046256 | RYR1 | c.5160A= (p.Glu1720=) c.5157A= (p.Glu1719=) n.5243A= | |
| 19 | g.38485815A>C | CA405654016 | RYR1 | c.5160A>C (p.Glu1720Asp) c.5157A>C (p.Glu1719Asp) n.5243A>C | |
| 19 | g.38485815A>G | CA507353157 | RYR1 | c.5160A>G (p.Glu1720=) c.5157A>G (p.Glu1719=) n.5243A>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485815A>T | CA405654017 | RYR1 | c.5160A>T (p.Glu1720Asp) c.5157A>T (p.Glu1719Asp) n.5243A>T | |
| 19 | g.38485816A>C | CA405654018 | RYR1 | c.5161A>C (p.Ser1721Arg) c.5158A>C (p.Ser1720Arg) n.5244A>C | |
| 19 | g.38485816A>G | CA405654019 | RYR1 | c.5161A>G (p.Ser1721Gly) c.5158A>G (p.Ser1720Gly) n.5244A>G | |
| 19 | g.38485816A>T | CA405654020 | RYR1 | c.5161A>T (p.Ser1721Cys) c.5158A>T (p.Ser1720Cys) n.5244A>T | |
| 19 | g.38485817G>A | CA405654021 | RYR1 | c.5162G>A (p.Ser1721Asn) c.5159G>A (p.Ser1720Asn) n.5245G>A | gnomAD v4 |
| 19 | g.38485817G>C | CA405654023 | RYR1 | c.5162G>C (p.Ser1721Thr) c.5159G>C (p.Ser1720Thr) n.5245G>C | gnomAD v4 |
| 19 | g.38485817G>T | CA405654025 | RYR1 | c.5162G>T (p.Ser1721Ile) c.5159G>T (p.Ser1720Ile) n.5245G>T | |
| 19 | g.38485818T>A | CA405654027 | RYR1 | c.5163T>A (p.Ser1721Arg) c.5160T>A (p.Ser1720Arg) n.5246T>A | |
| 19 | g.38485818T>C | CA507353159 | RYR1 | c.5163T>C (p.Ser1721=) c.5160T>C (p.Ser1720=) n.5246T>C | dbSNP gnomAD v4 |
| 19 | g.38485818T>G | CA405654026 | RYR1 | c.5163T>G (p.Ser1721Arg) c.5160T>G (p.Ser1720Arg) n.5246T>G | |
| 19 | g.38485818T= | CA2335046257 | RYR1 | c.5163T= (p.Ser1721=) c.5160T= (p.Ser1720=) n.5246T= | |
| 19 | g.38485819G>A | CA405654028 | RYR1 | c.5164G>A (p.Ala1722Thr) c.5161G>A (p.Ala1721Thr) n.5247G>A | ClinVar |
| 19 | g.38485819G>C | CA405654029 | RYR1 | c.5164G>C (p.Ala1722Pro) c.5161G>C (p.Ala1721Pro) n.5247G>C | dbSNP |
| 19 | g.38485819G= | CA2335046258 | RYR1 | c.5164G= (p.Ala1722=) c.5161G= (p.Ala1721=) n.5247G= | |
| 19 | g.38485819G>T | CA405654031 | RYR1 | c.5164G>T (p.Ala1722Ser) c.5161G>T (p.Ala1721Ser) n.5247G>T | |
| 19 | g.38485820C>A | CA405654032 | RYR1 | c.5165C>A (p.Ala1722Asp) c.5162C>A (p.Ala1721Asp) n.5248C>A | |
| 19 | g.38485820C>G | CA405654033 | RYR1 | c.5165C>G (p.Ala1722Gly) c.5162C>G (p.Ala1721Gly) n.5248C>G | |
| 19 | g.38485820C>T | CA405654035 | RYR1 | c.5165C>T (p.Ala1722Val) c.5162C>T (p.Ala1721Val) n.5248C>T | |
| 19 | g.38485821C>A | CA507353163 | RYR1 | c.5166C>A (p.Ala1722=) c.5163C>A (p.Ala1721=) n.5249C>A | |
| 19 | g.38485821C= | CA2335046259 | RYR1 | c.5166C= (p.Ala1722=) c.5163C= (p.Ala1721=) n.5249C= | |
| 19 | g.38485821C>G | CA507353164 | RYR1 | c.5166C>G (p.Ala1722=) c.5163C>G (p.Ala1721=) n.5249C>G | |
| 19 | g.38485821C>T | CA507353165 | RYR1 | c.5166C>T (p.Ala1722=) c.5163C>T (p.Ala1721=) n.5249C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485822T>A | CA405654036 | RYR1 | c.5167T>A (p.Cys1723Ser) c.5164T>A (p.Cys1722Ser) n.5250T>A | |
| 19 | g.38485822T>C | CA405654037 | RYR1 | c.5167T>C (p.Cys1723Arg) c.5164T>C (p.Cys1722Arg) n.5250T>C | |
| 19 | g.38485822T>G | CA405654039 | RYR1 | c.5167T>G (p.Cys1723Gly) c.5164T>G (p.Cys1722Gly) n.5250T>G | |
| 19 | g.38485823G>A | CA405654041 | RYR1 | c.5168G>A (p.Cys1723Tyr) c.5165G>A (p.Cys1722Tyr) n.5251G>A | |
| 19 | g.38485823G>C | CA405654042 | RYR1 | c.5168G>C (p.Cys1723Ser) c.5165G>C (p.Cys1722Ser) n.5251G>C | |
| 19 | g.38485823G>T | CA405654043 | RYR1 | c.5168G>T (p.Cys1723Phe) c.5165G>T (p.Cys1722Phe) n.5251G>T | |
| 19 | g.38485824C>A | CA405654044 | RYR1 | c.5169C>A (p.Cys1723Ter) c.5166C>A (p.Cys1722Ter) n.5252C>A | |
| 19 | g.38485824C>G | CA405654045 | RYR1 | c.5169C>G (p.Cys1723Trp) c.5166C>G (p.Cys1722Trp) n.5252C>G | |
| 19 | g.38485824C>T | CA507353166 | RYR1 | c.5169C>T (p.Cys1723=) c.5166C>T (p.Cys1722=) n.5252C>T | |
| 19 | g.38485825C>A | CA405654049 | RYR1 | c.5170C>A (p.Arg1724Ser) c.5167C>A (p.Arg1723Ser) n.5253C>A | |
| 19 | g.38485825C= | CA2335046260 | RYR1 | c.5170C= (p.Arg1724=) c.5167C= (p.Arg1723=) n.5253C= | |
| 19 | g.38485825C>G | CA405654048 | RYR1 | c.5170C>G (p.Arg1724Gly) c.5167C>G (p.Arg1723Gly) n.5253C>G | ClinVar gnomAD v4 |
| 19 | g.38485825C>T | CA066721 | RYR1 | c.5170C>T (p.Arg1724Cys) c.5167C>T (p.Arg1723Cys) n.5253C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485826G>A | CA066725 | RYR1 | c.5171G>A (p.Arg1724His) c.5168G>A (p.Arg1723His) n.5254G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485826G>C | CA405654051 | RYR1 | c.5171G>C (p.Arg1724Pro) c.5168G>C (p.Arg1723Pro) n.5254G>C | |
| 19 | g.38485826G= | CA2335046261 | RYR1 | c.5171G= (p.Arg1724=) c.5168G= (p.Arg1723=) n.5254G= | |
| 19 | g.38485826G>T | CA405654053 | RYR1 | c.5171G>T (p.Arg1724Leu) c.5168G>T (p.Arg1723Leu) n.5254G>T | |
| 19 | g.38485827C>A | CA507353170 | RYR1 | c.5172C>A (p.Arg1724=) c.5169C>A (p.Arg1723=) n.5255C>A | |
| 19 | g.38485827C= | CA2335046262 | RYR1 | c.5172C= (p.Arg1724=) c.5169C= (p.Arg1723=) n.5255C= | |
| 19 | g.38485827C>G | CA507353171 | RYR1 | c.5172C>G (p.Arg1724=) c.5169C>G (p.Arg1723=) n.5255C>G | |
| 19 | g.38485827C>T | CA507353172 | RYR1 | c.5172C>T (p.Arg1724=) c.5169C>T (p.Arg1723=) n.5255C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485828A>C | CA405654054 | RYR1 | c.5173A>C (p.Ser1725Arg) c.5170A>C (p.Ser1724Arg) n.5256A>C | gnomAD v4 |
| 19 | g.38485828A>G | CA405654057 | RYR1 | c.5173A>G (p.Ser1725Gly) c.5170A>G (p.Ser1724Gly) n.5256A>G | |
| 19 | g.38485828A>T | CA405654056 | RYR1 | c.5173A>T (p.Ser1725Cys) c.5170A>T (p.Ser1724Cys) n.5256A>T | dbSNP |
| 19 | g.38485829G>A | CA081723 | RYR1 | c.5174G>A (p.Ser1725Asn) c.5171G>A (p.Ser1724Asn) n.5257G>A | |
| 19 | g.38485829G>C | CA405654059 | RYR1 | c.5174G>C (p.Ser1725Thr) c.5171G>C (p.Ser1724Thr) n.5257G>C | dbSNP |
| 19 | g.38485829G>T | CA405654061 | RYR1 | c.5174G>T (p.Ser1725Ile) c.5171G>T (p.Ser1724Ile) n.5257G>T | gnomAD v4 |
| 19 | g.38485834_38485836del | CA2584898017 | RYR1 | c.5179_5181del (p.Arg1727del) c.5176_5178del (p.Arg1726del) n.5262_5264del | gnomAD v4 |
| 19 | g.38485830C>A | CA066728 | RYR1 | c.5175C>A (p.Ser1725Arg) c.5172C>A (p.Ser1724Arg) n.5258C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485830C= | CA2335046263 | RYR1 | c.5175C= (p.Ser1725=) c.5172C= (p.Ser1724=) n.5258C= | |
| 19 | g.38485830C>G | CA405654063 | RYR1 | c.5175C>G (p.Ser1725Arg) c.5172C>G (p.Ser1724Arg) n.5258C>G | |
| 19 | g.38485830C>T | CA507353174 | RYR1 | c.5175C>T (p.Ser1725=) c.5172C>T (p.Ser1724=) n.5258C>T | |
| 19 | g.38485831C>A | CA405654065 | RYR1 | c.5176C>A (p.Arg1726Ser) c.5173C>A (p.Arg1725Ser) n.5259C>A | |
| 19 | g.38485831C= | CA2335046264 | RYR1 | c.5176C= (p.Arg1726=) c.5173C= (p.Arg1725=) n.5259C= | |
| 19 | g.38485831C>G | CA405654067 | RYR1 | c.5176C>G (p.Arg1726Gly) c.5173C>G (p.Arg1725Gly) n.5259C>G | |
| 19 | g.38485831C>T | CA405654069 | RYR1 | c.5176C>T (p.Arg1726Cys) c.5173C>T (p.Arg1725Cys) n.5259C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485832G>A | CA405654070 | RYR1 | c.5177G>A (p.Arg1726His) c.5174G>A (p.Arg1725His) n.5260G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38485832G>C | CA405654071 | RYR1 | c.5177G>C (p.Arg1726Pro) c.5174G>C (p.Arg1725Pro) n.5260G>C | |
| 19 | g.38485832G= | CA2335046265 | RYR1 | c.5177G= (p.Arg1726=) c.5174G= (p.Arg1725=) n.5260G= | |
| 19 | g.38485832G>T | CA405654072 | RYR1 | c.5177G>T (p.Arg1726Leu) c.5174G>T (p.Arg1725Leu) n.5260G>T | gnomAD v4 |
| 19 | g.38485833C>A | CA081724 | RYR1 | c.5178C>A (p.Arg1726=) c.5175C>A (p.Arg1725=) n.5261C>A | |
| 19 | g.38485833C= | CA2335046266 | RYR1 | c.5178C= (p.Arg1726=) c.5175C= (p.Arg1725=) n.5261C= | |
| 19 | g.38485833C>G | CA507353176 | RYR1 | c.5178C>G (p.Arg1726=) c.5175C>G (p.Arg1725=) n.5261C>G | |
| 19 | g.38485833C>T | CA308093281 | RYR1 | c.5178C>T (p.Arg1726=) c.5175C>T (p.Arg1725=) n.5261C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485834C>A | CA405654075 | RYR1 | c.5179C>A (p.Arg1727Ser) c.5176C>A (p.Arg1726Ser) n.5262C>A | |
| 19 | g.38485834C= | CA2335046267 | RYR1 | c.5179C= (p.Arg1727=) c.5176C= (p.Arg1726=) n.5262C= | |
| 19 | g.38485834C>G | CA405654077 | RYR1 | c.5179C>G (p.Arg1727Gly) c.5176C>G (p.Arg1726Gly) n.5262C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485834C>T | CA066734 | RYR1 | c.5179C>T (p.Arg1727Cys) c.5176C>T (p.Arg1726Cys) n.5262C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485835G>A | CA066738 | RYR1 | c.5180G>A (p.Arg1727His) c.5177G>A (p.Arg1726His) n.5263G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485835G>C | CA405654079 | RYR1 | c.5180G>C (p.Arg1727Pro) c.5177G>C (p.Arg1726Pro) n.5263G>C | |
| 19 | g.38485835G= | CA2335046268 | RYR1 | c.5180G= (p.Arg1727=) c.5177G= (p.Arg1726=) n.5263G= | |
| 19 | g.38485835G>T | CA405654081 | RYR1 | c.5180G>T (p.Arg1727Leu) c.5177G>T (p.Arg1726Leu) n.5263G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485836C>A | CA507353178 | RYR1 | c.5181C>A (p.Arg1727=) c.5178C>A (p.Arg1726=) n.5264C>A | |
| 19 | g.38485836C= | CA2335046269 | RYR1 | c.5181C= (p.Arg1727=) c.5178C= (p.Arg1726=) n.5264C= | |
| 19 | g.38485836C>G | CA507353181 | RYR1 | c.5181C>G (p.Arg1727=) c.5178C>G (p.Arg1726=) n.5264C>G | |
| 19 | g.38485836C>T | CA507353182 | RYR1 | c.5181C>T (p.Arg1727=) c.5178C>T (p.Arg1726=) n.5264C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485837T>A | CA405654084 | RYR1 | c.5182T>A (p.Ser1728Thr) c.5179T>A (p.Ser1727Thr) n.5265T>A | |
| 19 | g.38485837T>C | CA024493 | RYR1 | c.5182T>C (p.Ser1728Pro) c.5179T>C (p.Ser1727Pro) n.5265T>C | ClinVar dbSNP |
| 19 | g.38485837T>G | CA405654085 | RYR1 | c.5182T>G (p.Ser1728Ala) c.5179T>G (p.Ser1727Ala) n.5265T>G | |
| 19 | g.38485837T= | CA2335046270 | RYR1 | c.5182T= (p.Ser1728=) c.5179T= (p.Ser1727=) n.5265T= | |
| 19 | g.38485838C>A | CA405654086 | RYR1 | c.5183C>A (p.Ser1728Tyr) c.5180C>A (p.Ser1727Tyr) n.5266C>A | |
| 19 | g.38485838C= | CA2335046271 | RYR1 | c.5183C= (p.Ser1728=) c.5180C= (p.Ser1727=) n.5266C= | |
| 19 | g.38485838C>G | CA405654087 | RYR1 | c.5183C>G (p.Ser1728Cys) c.5180C>G (p.Ser1727Cys) n.5266C>G | |
| 19 | g.38485838C>T | CA024494 | RYR1 | c.5183C>T (p.Ser1728Phe) c.5180C>T (p.Ser1727Phe) n.5266C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485839C>A | CA507353189 | RYR1 | c.5184C>A (p.Ser1728=) c.5181C>A (p.Ser1727=) n.5267C>A | |
| 19 | g.38485839C>G | CA507353190 | RYR1 | c.5184C>G (p.Ser1728=) c.5181C>G (p.Ser1727=) n.5267C>G | |
| 19 | g.38485839C>T | CA507353191 | RYR1 | c.5184C>T (p.Ser1728=) c.5181C>T (p.Ser1727=) n.5267C>T | |
| 19 | g.38485840A>C | CA405654091 | RYR1 | c.5185A>C (p.Met1729Leu) c.5182A>C (p.Met1728Leu) n.5268A>C | |
| 19 | g.38485840A>G | CA405654092 | RYR1 | c.5185A>G (p.Met1729Val) c.5182A>G (p.Met1728Val) n.5268A>G | |
| 19 | g.38485840A>T | CA405654089 | RYR1 | c.5185A>T (p.Met1729Leu) c.5182A>T (p.Met1728Leu) n.5268A>T | |
| 19 | g.38485841T>A | CA405654093 | RYR1 | c.5186T>A (p.Met1729Lys) c.5183T>A (p.Met1728Lys) n.5269T>A | |
| 19 | g.38485841T>C | CA405654094 | RYR1 | c.5186T>C (p.Met1729Thr) c.5183T>C (p.Met1728Thr) n.5269T>C | gnomAD v4 |
| 19 | g.38485841T>G | CA024497 | RYR1 | c.5186T>G (p.Met1729Arg) c.5183T>G (p.Met1728Arg) n.5269T>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485841T= | CA2335046272 | RYR1 | c.5186T= (p.Met1729=) c.5183T= (p.Met1728=) n.5269T= | |
| 19 | g.38485842G>A | CA405654097 | RYR1 | c.5187G>A (p.Met1729Ile) c.5184G>A (p.Met1728Ile) n.5270G>A | |
| 19 | g.38485842G>C | CA405654098 | RYR1 | c.5187G>C (p.Met1729Ile) c.5184G>C (p.Met1728Ile) n.5270G>C | |
| 19 | g.38485842G>T | CA405654100 | RYR1 | c.5187G>T (p.Met1729Ile) c.5184G>T (p.Met1728Ile) n.5270G>T | gnomAD v4 |
| 19 | g.38485843C>A | CA405654102 | RYR1 | c.5188C>A (p.Leu1730Ile) c.5185C>A (p.Leu1729Ile) n.5271C>A | |
| 19 | g.38485843C>G | CA405654105 | RYR1 | c.5188C>G (p.Leu1730Val) c.5185C>G (p.Leu1729Val) n.5271C>G | |
| 19 | g.38485843C>T | CA405654103 | RYR1 | c.5188C>T (p.Leu1730Phe) c.5185C>T (p.Leu1729Phe) n.5271C>T | |
| 19 | g.38485847_38485848del | CA2584898018 | RYR1 | c.5192_5193del (p.Ser1731Ter) c.5189_5190del (p.Ser1730Ter) n.5275_5276del | gnomAD v4 |
| 19 | g.38485844T>A | CA405654106 | RYR1 | c.5189T>A (p.Leu1730His) c.5186T>A (p.Leu1729His) n.5272T>A | |
| 19 | g.38485844T>C | CA405654108 | RYR1 | c.5189T>C (p.Leu1730Pro) c.5186T>C (p.Leu1729Pro) n.5272T>C | ClinVar |
| 19 | g.38485844T>G | CA405654109 | RYR1 | c.5189T>G (p.Leu1730Arg) c.5186T>G (p.Leu1729Arg) n.5272T>G | |
| 19 | g.38485845C>A | CA507353198 | RYR1 | c.5190C>A (p.Leu1730=) c.5187C>A (p.Leu1729=) n.5273C>A | |
| 19 | g.38485845C= | CA2335046273 | RYR1 | c.5190C= (p.Leu1730=) c.5187C= (p.Leu1729=) n.5273C= | |
| 19 | g.38485845C>G | CA066746 | RYR1 | c.5190C>G (p.Leu1730=) c.5187C>G (p.Leu1729=) n.5273C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485845C>T | CA507353199 | RYR1 | c.5190C>T (p.Leu1730=) c.5187C>T (p.Leu1729=) n.5273C>T | |
| 19 | g.38485846T>A | CA405654111 | RYR1 | c.5191T>A (p.Ser1731Thr) c.5188T>A (p.Ser1730Thr) n.5274T>A | |
| 19 | g.38485846T>C | CA405654114 | RYR1 | c.5191T>C (p.Ser1731Pro) c.5188T>C (p.Ser1730Pro) n.5274T>C | |
| 19 | g.38485846T>G | CA405654113 | RYR1 | c.5191T>G (p.Ser1731Ala) c.5188T>G (p.Ser1730Ala) n.5274T>G | |
| 19 | g.38485847C>A | CA405654115 | RYR1 | c.5192C>A (p.Ser1731Tyr) c.5189C>A (p.Ser1730Tyr) n.5275C>A | |
| 19 | g.38485847C>G | CA405654117 | RYR1 | c.5192C>G (p.Ser1731Cys) c.5189C>G (p.Ser1730Cys) n.5275C>G | |
| 19 | g.38485847C>T | CA405654118 | RYR1 | c.5192C>T (p.Ser1731Phe) c.5189C>T (p.Ser1730Phe) n.5275C>T | |
| 19 | g.38485848T>A | CA507353204 | RYR1 | c.5193T>A (p.Ser1731=) c.5190T>A (p.Ser1730=) n.5276T>A | |
| 19 | g.38485848T>C | CA066750 | RYR1 | c.5193T>C (p.Ser1731=) c.5190T>C (p.Ser1730=) n.5276T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485848T>G | CA507353205 | RYR1 | c.5193T>G (p.Ser1731=) c.5190T>G (p.Ser1730=) n.5276T>G | |
| 19 | g.38485848T= | CA2335046274 | RYR1 | c.5193T= (p.Ser1731=) c.5190T= (p.Ser1730=) n.5276T= | |
| 19 | g.38485849G>A | CA405654121 | RYR1 | c.5194G>A (p.Glu1732Lys) c.5191G>A (p.Glu1731Lys) n.5277G>A | COSMIC |
| 19 | g.38485849G>C | CA066755 | RYR1 | c.5194G>C (p.Glu1732Gln) c.5191G>C (p.Glu1731Gln) n.5277G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485849G= | CA2335046275 | RYR1 | c.5194G= (p.Glu1732=) c.5191G= (p.Glu1731=) n.5277G= | |
| 19 | g.38485849G>T | CA405654122 | RYR1 | c.5194G>T (p.Glu1732Ter) c.5191G>T (p.Glu1731Ter) n.5277G>T | |
| 19 | g.38485850A= | CA2335046276 | RYR1 | c.5195A= (p.Glu1732=) c.5192A= (p.Glu1731=) n.5278A= | |
| 19 | g.38485850A>C | CA405654124 | RYR1 | c.5195A>C (p.Glu1732Ala) c.5192A>C (p.Glu1731Ala) n.5278A>C | ClinVar dbSNP |
| 19 | g.38485850A>G | CA405654125 | RYR1 | c.5195A>G (p.Glu1732Gly) c.5192A>G (p.Glu1731Gly) n.5278A>G | |
| 19 | g.38485850A>T | CA405654127 | RYR1 | c.5195A>T (p.Glu1732Val) c.5192A>T (p.Glu1731Val) n.5278A>T | |
| 19 | g.38485851A>C | CA405654128 | RYR1 | c.5196A>C (p.Glu1732Asp) c.5193A>C (p.Glu1731Asp) n.5279A>C | |
| 19 | g.38485851A>G | CA507353211 | RYR1 | c.5196A>G (p.Glu1732=) c.5193A>G (p.Glu1731=) n.5279A>G | |
| 19 | g.38485851A>T | CA405654130 | RYR1 | c.5196A>T (p.Glu1732Asp) c.5193A>T (p.Glu1731Asp) n.5279A>T | ClinVar dbSNP |
| 19 | g.38485852T>A | CA066758 | RYR1 | c.5197T>A (p.Tyr1733Asn) c.5194T>A (p.Tyr1732Asn) n.5280T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485852T>C | CA405654134 | RYR1 | c.5197T>C (p.Tyr1733His) c.5194T>C (p.Tyr1732His) n.5280T>C | |
| 19 | g.38485852T>G | CA405654132 | RYR1 | c.5197T>G (p.Tyr1733Asp) c.5194T>G (p.Tyr1732Asp) n.5280T>G | gnomAD v4 |
| 19 | g.38485852T= | CA2335046277 | RYR1 | c.5197T= (p.Tyr1733=) c.5194T= (p.Tyr1732=) n.5280T= | |
| 19 | g.38485853A= | CA2335046278 | RYR1 | c.5198A= (p.Tyr1733=) c.5195A= (p.Tyr1732=) n.5281A= | |
| 19 | g.38485853A>C | CA066760 | RYR1 | c.5198A>C (p.Tyr1733Ser) c.5195A>C (p.Tyr1732Ser) n.5281A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485853A>G | CA405654136 | RYR1 | c.5198A>G (p.Tyr1733Cys) c.5195A>G (p.Tyr1732Cys) n.5281A>G | |
| 19 | g.38485853A>T | CA405654137 | RYR1 | c.5198A>T (p.Tyr1733Phe) c.5195A>T (p.Tyr1732Phe) n.5281A>T | |
| 19 | g.38485854C>A | CA405654138 | RYR1 | c.5199C>A (p.Tyr1733Ter) c.5196C>A (p.Tyr1732Ter) n.5282C>A | |
| 19 | g.38485854C= | CA2335046279 | RYR1 | c.5199C= (p.Tyr1733=) c.5196C= (p.Tyr1732=) n.5282C= | |
| 19 | g.38485854C>G | CA405654139 | RYR1 | c.5199C>G (p.Tyr1733Ter) c.5196C>G (p.Tyr1732Ter) n.5282C>G | |
| 19 | g.38485854C>T | CA066764 | RYR1 | c.5199C>T (p.Tyr1733=) c.5196C>T (p.Tyr1732=) n.5282C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485855A>C | CA405654141 | RYR1 | c.5200A>C (p.Ile1734Leu) c.5197A>C (p.Ile1733Leu) n.5283A>C | |
| 19 | g.38485855A>G | CA405654143 | RYR1 | c.5200A>G (p.Ile1734Val) c.5197A>G (p.Ile1733Val) n.5283A>G | gnomAD v4 |
| 19 | g.38485855A>T | CA405654145 | RYR1 | c.5200A>T (p.Ile1734Phe) c.5197A>T (p.Ile1733Phe) n.5283A>T | gnomAD v4 |
| 19 | g.38485856T>A | CA405654146 | RYR1 | c.5201T>A (p.Ile1734Asn) c.5198T>A (p.Ile1733Asn) n.5284T>A | |
| 19 | g.38485856T>C | CA405654148 | RYR1 | c.5201T>C (p.Ile1734Thr) c.5198T>C (p.Ile1733Thr) n.5284T>C | |
| 19 | g.38485856T>G | CA405654150 | RYR1 | c.5201T>G (p.Ile1734Ser) c.5198T>G (p.Ile1733Ser) n.5284T>G | |
| 19 | g.38485857C>A | CA308093297 | RYR1 | c.5202C>A (p.Ile1734=) c.5199C>A (p.Ile1733=) n.5285C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485857C= | CA2335046280 | RYR1 | c.5202C= (p.Ile1734=) c.5199C= (p.Ile1733=) n.5285C= | |
| 19 | g.38485857C>G | CA405654151 | RYR1 | c.5202C>G (p.Ile1734Met) c.5199C>G (p.Ile1733Met) n.5285C>G | |
| 19 | g.38485857C>T | CA081732 | RYR1 | c.5202C>T (p.Ile1734=) c.5199C>T (p.Ile1733=) n.5285C>T | gnomAD v4 COSMIC |
| 19 | g.38485858G>A | CA405654157 | RYR1 | c.5203G>A (p.Val1735Met) c.5200G>A (p.Val1734Met) n.5286G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.38485858G>C | CA405654155 | RYR1 | c.5203G>C (p.Val1735Leu) c.5200G>C (p.Val1734Leu) n.5286G>C | |
| 19 | g.38485858G= | CA2335046281 | RYR1 | c.5203G= (p.Val1735=) c.5200G= (p.Val1734=) n.5286G= | |
| 19 | g.38485858G>T | CA405654153 | RYR1 | c.5203G>T (p.Val1735Leu) c.5200G>T (p.Val1734Leu) n.5286G>T | gnomAD v4 |
| 19 | g.38485859T>A | CA405654159 | RYR1 | c.5204T>A (p.Val1735Glu) c.5201T>A (p.Val1734Glu) n.5287T>A | |
| 19 | g.38485859T>C | CA405654160 | RYR1 | c.5204T>C (p.Val1735Ala) c.5201T>C (p.Val1734Ala) n.5287T>C | |
| 19 | g.38485859T>G | CA405654161 | RYR1 | c.5204T>G (p.Val1735Gly) c.5201T>G (p.Val1734Gly) n.5287T>G | |
| 19 | g.38485860G>A | CA507353221 | RYR1 | c.5205G>A (p.Val1735=) c.5202G>A (p.Val1734=) n.5288G>A | gnomAD v4 COSMIC |
| 19 | g.38485860G>C | CA066769 | RYR1 | c.5205G>C (p.Val1735=) c.5202G>C (p.Val1734=) n.5288G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485860G= | CA2335046282 | RYR1 | c.5205G= (p.Val1735=) c.5202G= (p.Val1734=) n.5288G= | |
| 19 | g.38485860G>T | CA507353223 | RYR1 | c.5205G>T (p.Val1735=) c.5202G>T (p.Val1734=) n.5288G>T | ClinVar gnomAD v4 |
| 19 | g.38485861C>A | CA405654164 | RYR1 | c.5206C>A (p.Pro1736Thr) c.5203C>A (p.Pro1735Thr) n.5289C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485861C= | CA2335046283 | RYR1 | c.5206C= (p.Pro1736=) c.5203C= (p.Pro1735=) n.5289C= | |
| 19 | g.38485861C>G | CA405654165 | RYR1 | c.5206C>G (p.Pro1736Ala) c.5203C>G (p.Pro1735Ala) n.5289C>G | ClinVar |
| 19 | g.38485861C>T | CA066773 | RYR1 | c.5206C>T (p.Pro1736Ser) c.5203C>T (p.Pro1735Ser) n.5289C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485862C>A | CA405654168 | RYR1 | c.5207C>A (p.Pro1736His) c.5204C>A (p.Pro1735His) n.5290C>A | |
| 19 | g.38485862C>G | CA405654170 | RYR1 | c.5207C>G (p.Pro1736Arg) c.5204C>G (p.Pro1735Arg) n.5290C>G | |
| 19 | g.38485862C>T | CA405654171 | RYR1 | c.5207C>T (p.Pro1736Leu) c.5204C>T (p.Pro1735Leu) n.5290C>T | ClinVar gnomAD v4 |
| 19 | g.38485863C>A | CA507353227 | RYR1 | c.5208C>A (p.Pro1736=) c.5205C>A (p.Pro1735=) n.5291C>A | COSMIC |
| 19 | g.38485863C= | CA2335046284 | RYR1 | c.5208C= (p.Pro1736=) c.5205C= (p.Pro1735=) n.5291C= | |
| 19 | g.38485863C>G | CA507353229 | RYR1 | c.5208C>G (p.Pro1736=) c.5205C>G (p.Pro1735=) n.5291C>G | |
| 19 | g.38485863C>T | CA066777 | RYR1 | c.5208C>T (p.Pro1736=) c.5205C>T (p.Pro1735=) n.5291C>T | ClinVar dbSNP ExAC gnomAD v4 |
| 19 | g.38485864C>A | CA405654172 | RYR1 | c.5209C>A (p.Leu1737Ile) c.5206C>A (p.Leu1736Ile) n.5292C>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485864C= | CA2335046285 | RYR1 | c.5209C= (p.Leu1737=) c.5206C= (p.Leu1736=) n.5292C= | |
| 19 | g.38485864C>G | CA405654173 | RYR1 | c.5209C>G (p.Leu1737Val) c.5206C>G (p.Leu1736Val) n.5292C>G | |
| 19 | g.38485864C>T | CA081734 | RYR1 | c.5209C>T (p.Leu1737Phe) c.5206C>T (p.Leu1736Phe) n.5292C>T | |
| 19 | g.38485865T>A | CA405654177 | RYR1 | c.5210T>A (p.Leu1737His) c.5207T>A (p.Leu1736His) n.5293T>A | |
| 19 | g.38485865T>C | CA405654179 | RYR1 | c.5210T>C (p.Leu1737Pro) c.5207T>C (p.Leu1736Pro) n.5293T>C | |
| 19 | g.38485865T>G | CA405654176 | RYR1 | c.5210T>G (p.Leu1737Arg) c.5207T>G (p.Leu1736Arg) n.5293T>G | |
| 19 | g.38485866C>A | CA507353237 | RYR1 | c.5211C>A (p.Leu1737=) c.5208C>A (p.Leu1736=) n.5294C>A | |
| 19 | g.38485866C>G | CA507353234 | RYR1 | c.5211C>G (p.Leu1737=) c.5208C>G (p.Leu1736=) n.5294C>G | |
| 19 | g.38485866C>T | CA081735 | RYR1 | c.5211C>T (p.Leu1737=) c.5208C>T (p.Leu1736=) n.5294C>T | gnomAD v4 |
| 19 | g.38485867del | CA2584898019 | RYR1 | c.5212del (p.Thr1738ArgfsTer?) c.5209del (p.Thr1737ArgfsTer?) n.5295del | gnomAD v4 |
| 19 | g.38485867A>C | CA405654181 | RYR1 | c.5212A>C (p.Thr1738Pro) c.5209A>C (p.Thr1737Pro) n.5295A>C | |
| 19 | g.38485867A>G | CA405654183 | RYR1 | c.5212A>G (p.Thr1738Ala) c.5209A>G (p.Thr1737Ala) n.5295A>G | |
| 19 | g.38485867A>T | CA405654184 | RYR1 | c.5212A>T (p.Thr1738Ser) c.5209A>T (p.Thr1737Ser) n.5295A>T | |
| 19 | g.38485868C>A | CA405654185 | RYR1 | c.5213C>A (p.Thr1738Lys) c.5210C>A (p.Thr1737Lys) n.5296C>A | |
| 19 | g.38485868C= | CA2335046286 | RYR1 | c.5213C= (p.Thr1738=) c.5210C= (p.Thr1737=) n.5296C= | |
| 19 | g.38485868C>G | CA405654186 | RYR1 | c.5213C>G (p.Thr1738Arg) c.5210C>G (p.Thr1737Arg) n.5296C>G | |
| 19 | g.38485868C>T | CA405654188 | RYR1 | c.5213C>T (p.Thr1738Met) c.5210C>T (p.Thr1737Met) n.5296C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485869G>A | CA507353241 | RYR1 | c.5214G>A (p.Thr1738=) c.5211G>A (p.Thr1737=) n.5297G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38485869G>C | CA507353243 | RYR1 | c.5214G>C (p.Thr1738=) c.5211G>C (p.Thr1737=) n.5297G>C | |
| 19 | g.38485869G= | CA2335046287 | RYR1 | c.5214G= (p.Thr1738=) c.5211G= (p.Thr1737=) n.5297G= | |
| 19 | g.38485869G>T | CA507353245 | RYR1 | c.5214G>T (p.Thr1738=) c.5211G>T (p.Thr1737=) n.5297G>T | |
| 19 | g.38485870C>A | CA405654190 | RYR1 | c.5215C>A (p.Pro1739Thr) c.5212C>A (p.Pro1738Thr) n.5298C>A | |
| 19 | g.38485870C= | CA2335046288 | RYR1 | c.5215C= (p.Pro1739=) c.5212C= (p.Pro1738=) n.5298C= | |
| 19 | g.38485870C>G | CA405654191 | RYR1 | c.5215C>G (p.Pro1739Ala) c.5212C>G (p.Pro1738Ala) n.5298C>G | |
| 19 | g.38485870C>T | CA405654192 | RYR1 | c.5215C>T (p.Pro1739Ser) c.5212C>T (p.Pro1738Ser) n.5298C>T | dbSNP gnomAD v4 |
| 19 | g.38485871C>A | CA405654194 | RYR1 | c.5216C>A (p.Pro1739His) c.5213C>A (p.Pro1738His) n.5299C>A | |
| 19 | g.38485871C>G | CA405654196 | RYR1 | c.5216C>G (p.Pro1739Arg) c.5213C>G (p.Pro1738Arg) n.5299C>G | |
| 19 | g.38485871C>T | CA405654197 | RYR1 | c.5216C>T (p.Pro1739Leu) c.5213C>T (p.Pro1738Leu) n.5299C>T | |
| 19 | g.38485872T>A | CA507353249 | RYR1 | c.5217T>A (p.Pro1739=) c.5214T>A (p.Pro1738=) n.5300T>A | |
| 19 | g.38485872T>C | CA507353251 | RYR1 | c.5217T>C (p.Pro1739=) c.5214T>C (p.Pro1738=) n.5300T>C | |
| 19 | g.38485872T>G | CA507353253 | RYR1 | c.5217T>G (p.Pro1739=) c.5214T>G (p.Pro1738=) n.5300T>G | |
| 19 | g.38485873G>A | CA405654200 | RYR1 | c.5218G>A (p.Glu1740Lys) c.5215G>A (p.Glu1739Lys) n.5301G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38485873G>C | CA405654202 | RYR1 | c.5218G>C (p.Glu1740Gln) c.5215G>C (p.Glu1739Gln) n.5301G>C | |
| 19 | g.38485873G= | CA2335046289 | RYR1 | c.5218G= (p.Glu1740=) c.5215G= (p.Glu1739=) n.5301G= | |
| 19 | g.38485873G>T | CA405654199 | RYR1 | c.5218G>T (p.Glu1740Ter) c.5215G>T (p.Glu1739Ter) n.5301G>T | ClinVar dbSNP |
| 19 | g.38485874A>C | CA405654203 | RYR1 | c.5219A>C (p.Glu1740Ala) c.5216A>C (p.Glu1739Ala) n.5302A>C | |
| 19 | g.38485874A>G | CA405654205 | RYR1 | c.5219A>G (p.Glu1740Gly) c.5216A>G (p.Glu1739Gly) n.5302A>G | |
| 19 | g.38485874A>T | CA405654207 | RYR1 | c.5219A>T (p.Glu1740Val) c.5216A>T (p.Glu1739Val) n.5302A>T | |
| 19 | g.38485875G>A | CA507353258 | RYR1 | c.5220G>A (p.Glu1740=) c.5217G>A (p.Glu1739=) n.5303G>A | |
| 19 | g.38485875G>C | CA405654208 | RYR1 | c.5220G>C (p.Glu1740Asp) c.5217G>C (p.Glu1739Asp) n.5303G>C | |
| 19 | g.38485875G>T | CA405654209 | RYR1 | c.5220G>T (p.Glu1740Asp) c.5217G>T (p.Glu1739Asp) n.5303G>T | gnomAD v4 |
| 19 | g.38485876A>C | CA405654214 | RYR1 | c.5221A>C (p.Thr1741Pro) c.5218A>C (p.Thr1740Pro) n.5304A>C | |
| 19 | g.38485876A>G | CA405654211 | RYR1 | c.5221A>G (p.Thr1741Ala) c.5218A>G (p.Thr1740Ala) n.5304A>G | |
| 19 | g.38485876A>T | CA405654213 | RYR1 | c.5221A>T (p.Thr1741Ser) c.5218A>T (p.Thr1740Ser) n.5304A>T | |
| 19 | g.38485877C>A | CA405654216 | RYR1 | c.5222C>A (p.Thr1741Asn) c.5219C>A (p.Thr1740Asn) n.5305C>A | |
| 19 | g.38485877C= | CA2335046290 | RYR1 | c.5222C= (p.Thr1741=) c.5219C= (p.Thr1740=) n.5305C= | |
| 19 | g.38485877C>G | CA308093321 | RYR1 | c.5222C>G (p.Thr1741Ser) c.5219C>G (p.Thr1740Ser) n.5305C>G | dbSNP |
| 19 | g.38485877C>T | CA405654218 | RYR1 | c.5222C>T (p.Thr1741Ile) c.5219C>T (p.Thr1740Ile) n.5305C>T | ClinVar |
| 19 | g.38485878C>A | CA507353262 | RYR1 | c.5223C>A (p.Thr1741=) c.5220C>A (p.Thr1740=) n.5306C>A | dbSNP gnomAD v4 |
| 19 | g.38485878C= | CA2335046291 | RYR1 | c.5223C= (p.Thr1741=) c.5220C= (p.Thr1740=) n.5306C= | |
| 19 | g.38485878C>G | CA507353264 | RYR1 | c.5223C>G (p.Thr1741=) c.5220C>G (p.Thr1740=) n.5306C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485878C>T | CA507353266 | RYR1 | c.5223C>T (p.Thr1741=) c.5220C>T (p.Thr1740=) n.5306C>T | |
| 19 | g.38485879C>A | CA405654220 | RYR1 | c.5224C>A (p.Arg1742Ser) c.5221C>A (p.Arg1741Ser) n.5307C>A | |
| 19 | g.38485879C= | CA2335046292 | RYR1 | c.5224C= (p.Arg1742=) c.5221C= (p.Arg1741=) n.5307C= | |
| 19 | g.38485879C>G | CA405654222 | RYR1 | c.5224C>G (p.Arg1742Gly) c.5221C>G (p.Arg1741Gly) n.5307C>G | |
| 19 | g.38485879C>T | CA405654223 | RYR1 | c.5224C>T (p.Arg1742Cys) c.5221C>T (p.Arg1741Cys) n.5307C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485880G>A | CA066779 | RYR1 | c.5225G>A (p.Arg1742His) c.5222G>A (p.Arg1741His) n.5308G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485880G>C | CA405654227 | RYR1 | c.5225G>C (p.Arg1742Pro) c.5222G>C (p.Arg1741Pro) n.5308G>C | gnomAD v4 |
| 19 | g.38485880G= | CA2335046293 | RYR1 | c.5225G= (p.Arg1742=) c.5222G= (p.Arg1741=) n.5308G= | |
| 19 | g.38485880G>T | CA405654225 | RYR1 | c.5225G>T (p.Arg1742Leu) c.5222G>T (p.Arg1741Leu) n.5308G>T |