| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38486044_38486058del | CA2584898021 | RYR1 | c.5389_5403del (p.Arg1797_Ala1801del) c.5386_5400del (p.Arg1796_Ala1800del) n.5472_5486del | gnomAD v4 |
| 19 | g.38486056G>A | CA405655038 | RYR1 | c.5401G>A (p.Ala1801Thr) c.5398G>A (p.Ala1800Thr) n.5484G>A | |
| 19 | g.38486056G>C | CA405655045 | RYR1 | c.5401G>C (p.Ala1801Pro) c.5398G>C (p.Ala1800Pro) n.5484G>C | |
| 19 | g.38486056G>T | CA405655048 | RYR1 | c.5401G>T (p.Ala1801Ser) c.5398G>T (p.Ala1800Ser) n.5484G>T | |
| 19 | g.38486057C>A | CA405655052 | RYR1 | c.5402C>A (p.Ala1801Asp) c.5399C>A (p.Ala1800Asp) n.5485C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486057C= | CA2335046381 | RYR1 | c.5402C= (p.Ala1801=) c.5399C= (p.Ala1800=) n.5485C= | |
| 19 | g.38486057C>G | CA405655053 | RYR1 | c.5402C>G (p.Ala1801Gly) c.5399C>G (p.Ala1800Gly) n.5485C>G | |
| 19 | g.38486057C>T | CA405655054 | RYR1 | c.5402C>T (p.Ala1801Val) c.5399C>T (p.Ala1800Val) n.5485C>T | |
| 19 | g.38486058C>A | CA507353495 | RYR1 | c.5403C>A (p.Ala1801=) c.5400C>A (p.Ala1800=) n.5486C>A | |
| 19 | g.38486058C>G | CA507353496 | RYR1 | c.5403C>G (p.Ala1801=) c.5400C>G (p.Ala1800=) n.5486C>G | |
| 19 | g.38486058C>T | CA507353497 | RYR1 | c.5403C>T (p.Ala1801=) c.5400C>T (p.Ala1800=) n.5486C>T | |
| 19 | g.38486059A>C | CA405655064 | RYR1 | c.5404A>C (p.Ile1802Leu) c.5401A>C (p.Ile1801Leu) n.5487A>C | |
| 19 | g.38486059A>G | CA405655059 | RYR1 | c.5404A>G (p.Ile1802Val) c.5401A>G (p.Ile1801Val) n.5487A>G | |
| 19 | g.38486059A>T | CA405655062 | RYR1 | c.5404A>T (p.Ile1802Phe) c.5401A>T (p.Ile1801Phe) n.5487A>T | |
| 19 | g.38486060T>A | CA405655068 | RYR1 | c.5405T>A (p.Ile1802Asn) c.5402T>A (p.Ile1801Asn) n.5488T>A | |
| 19 | g.38486060T>C | CA405655071 | RYR1 | c.5405T>C (p.Ile1802Thr) c.5402T>C (p.Ile1801Thr) n.5488T>C | |
| 19 | g.38486060T>G | CA405655074 | RYR1 | c.5405T>G (p.Ile1802Ser) c.5402T>G (p.Ile1801Ser) n.5488T>G | |
| 19 | g.38486061C>A | CA507353502 | RYR1 | c.5406C>A (p.Ile1802=) c.5403C>A (p.Ile1801=) n.5489C>A | |
| 19 | g.38486061C>G | CA405655076 | RYR1 | c.5406C>G (p.Ile1802Met) c.5403C>G (p.Ile1801Met) n.5489C>G | gnomAD v4 |
| 19 | g.38486061C>T | CA507353503 | RYR1 | c.5406C>T (p.Ile1802=) c.5403C>T (p.Ile1801=) n.5489C>T | |
| 19 | g.38486062C>A | CA405655079 | RYR1 | c.5407C>A (p.Pro1803Thr) c.5404C>A (p.Pro1802Thr) n.5490C>A | |
| 19 | g.38486062C>G | CA405655081 | RYR1 | c.5407C>G (p.Pro1803Ala) c.5404C>G (p.Pro1802Ala) n.5490C>G | |
| 19 | g.38486062C>T | CA405655084 | RYR1 | c.5407C>T (p.Pro1803Ser) c.5404C>T (p.Pro1802Ser) n.5490C>T | |
| 19 | g.38486063C>A | CA405655088 | RYR1 | c.5408C>A (p.Pro1803Gln) c.5405C>A (p.Pro1802Gln) n.5491C>A | |
| 19 | g.38486063C= | CA2335046382 | RYR1 | c.5408C= (p.Pro1803=) c.5405C= (p.Pro1802=) n.5491C= | |
| 19 | g.38486063C>G | CA405655089 | RYR1 | c.5408C>G (p.Pro1803Arg) c.5405C>G (p.Pro1802Arg) n.5491C>G | gnomAD v4 |
| 19 | g.38486063C>T | CA067071 | RYR1 | c.5408C>T (p.Pro1803Leu) c.5405C>T (p.Pro1802Leu) n.5491C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38486064G>A | CA067074 | RYR1 | c.5409G>A (p.Pro1803=) c.5406G>A (p.Pro1802=) n.5492G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38486064G>C | CA507353511 | RYR1 | c.5409G>C (p.Pro1803=) c.5406G>C (p.Pro1802=) n.5492G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38486064G= | CA2335046383 | RYR1 | c.5409G= (p.Pro1803=) c.5406G= (p.Pro1802=) n.5492G= | |
| 19 | g.38486064G>T | CA507353508 | RYR1 | c.5409G>T (p.Pro1803=) c.5406G>T (p.Pro1802=) n.5492G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.38486065C>A | CA405655101 | RYR1 | c.5410C>A (p.Leu1804Met) c.5407C>A (p.Leu1803Met) n.5493C>A | |
| 19 | g.38486065C= | CA2335046384 | RYR1 | c.5410C= (p.Leu1804=) c.5407C= (p.Leu1803=) n.5493C= | |
| 19 | g.38486065C>G | CA405655098 | RYR1 | c.5410C>G (p.Leu1804Val) c.5407C>G (p.Leu1803Val) n.5493C>G | |
| 19 | g.38486065C>T | CA507353401 | RYR1 | c.5410C>T (p.Leu1804=) c.5407C>T (p.Leu1803=) n.5493C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486066T>A | CA405655103 | RYR1 | c.5411T>A (p.Leu1804Gln) c.5408T>A (p.Leu1803Gln) n.5494T>A | |
| 19 | g.38486066T>C | CA405655104 | RYR1 | c.5411T>C (p.Leu1804Pro) c.5408T>C (p.Leu1803Pro) n.5494T>C | |
| 19 | g.38486066T>G | CA405655105 | RYR1 | c.5411T>G (p.Leu1804Arg) c.5408T>G (p.Leu1803Arg) n.5494T>G | |
| 19 | g.38486067G>A | CA081782 | RYR1 | c.5412G>A (p.Leu1804=) c.5409G>A (p.Leu1803=) n.5495G>A | COSMIC |
| 19 | g.38486067G>C | CA507353402 | RYR1 | c.5412G>C (p.Leu1804=) c.5409G>C (p.Leu1803=) n.5495G>C | |
| 19 | g.38486067G>T | CA507353403 | RYR1 | c.5412G>T (p.Leu1804=) c.5409G>T (p.Leu1803=) n.5495G>T | |
| 19 | g.38486068G>A | CA405655113 | RYR1 | c.5413G>A (p.Glu1805Lys) c.5410G>A (p.Glu1804Lys) n.5496G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38486068G>C | CA405655116 | RYR1 | c.5413G>C (p.Glu1805Gln) c.5410G>C (p.Glu1804Gln) n.5496G>C | |
| 19 | g.38486068G= | CA2335046385 | RYR1 | c.5413G= (p.Glu1805=) c.5410G= (p.Glu1804=) n.5496G= | |
| 19 | g.38486068G>T | CA405655117 | RYR1 | c.5413G>T (p.Glu1805Ter) c.5410G>T (p.Glu1804Ter) n.5496G>T | |
| 19 | g.38486069A>C | CA405655122 | RYR1 | c.5414A>C (p.Glu1805Ala) c.5411A>C (p.Glu1804Ala) n.5497A>C | |
| 19 | g.38486069A>G | CA405655120 | RYR1 | c.5414A>G (p.Glu1805Gly) c.5411A>G (p.Glu1804Gly) n.5497A>G | |
| 19 | g.38486069A>T | CA405655121 | RYR1 | c.5414A>T (p.Glu1805Val) c.5411A>T (p.Glu1804Val) n.5497A>T | |
| 19 | g.38486070G>A | CA507353404 | RYR1 | c.5415G>A (p.Glu1805=) c.5412G>A (p.Glu1804=) n.5498G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38486070G>C | CA405655123 | RYR1 | c.5415G>C (p.Glu1805Asp) c.5412G>C (p.Glu1804Asp) n.5498G>C | |
| 19 | g.38486070G= | CA2335046386 | RYR1 | c.5415G= (p.Glu1805=) c.5412G= (p.Glu1804=) n.5498G= | |
| 19 | g.38486070G>T | CA405655125 | RYR1 | c.5415G>T (p.Glu1805Asp) c.5412G>T (p.Glu1804Asp) n.5498G>T | gnomAD v4 |
| 19 | g.38486072_38486080dup | CA2584898023 | RYR1 | c.5417_5425dup (p.Arg1808_Asp1809insAlaLeuArg) c.5414_5422dup (p.Arg1807_Asp1808insAlaLeuArg) n.5500_5508dup | gnomAD v4 |
| 19 | g.38486071G>A | CA405655126 | RYR1 | c.5416G>A (p.Ala1806Thr) c.5413G>A (p.Ala1805Thr) n.5499G>A | dbSNP COSMIC |
| 19 | g.38486071G>C | CA405655128 | RYR1 | c.5416G>C (p.Ala1806Pro) c.5413G>C (p.Ala1805Pro) n.5499G>C | |
| 19 | g.38486071G= | CA2335046387 | RYR1 | c.5416G= (p.Ala1806=) c.5413G= (p.Ala1805=) n.5499G= | |
| 19 | g.38486071G>T | CA405655129 | RYR1 | c.5416G>T (p.Ala1806Ser) c.5413G>T (p.Ala1805Ser) n.5499G>T | gnomAD v4 |
| 19 | g.38486072C>A | CA405655132 | RYR1 | c.5417C>A (p.Ala1806Asp) c.5414C>A (p.Ala1805Asp) n.5500C>A | |
| 19 | g.38486072C= | CA2335046388 | RYR1 | c.5417C= (p.Ala1806=) c.5414C= (p.Ala1805=) n.5500C= | |
| 19 | g.38486072C>G | CA405655140 | RYR1 | c.5417C>G (p.Ala1806Gly) c.5414C>G (p.Ala1805Gly) n.5500C>G | |
| 19 | g.38486072C>T | CA067077 | RYR1 | c.5417C>T (p.Ala1806Val) c.5414C>T (p.Ala1805Val) n.5500C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486074del | CA2695228662 | RYR1 | c.5419del (p.Leu1807CysfsTer6) c.5416del (p.Leu1806CysfsTer6) n.5502del | |
| 19 | g.38486073C>A | CA507353410 | RYR1 | c.5418C>A (p.Ala1806=) c.5415C>A (p.Ala1805=) n.5501C>A | |
| 19 | g.38486073C= | CA2335046389 | RYR1 | c.5418C= (p.Ala1806=) c.5415C= (p.Ala1805=) n.5501C= | |
| 19 | g.38486073C>G | CA507353412 | RYR1 | c.5418C>G (p.Ala1806=) c.5415C>G (p.Ala1805=) n.5501C>G | |
| 19 | g.38486073C>T | CA067081 | RYR1 | c.5418C>T (p.Ala1806=) c.5415C>T (p.Ala1805=) n.5501C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38486074C>A | CA405655144 | RYR1 | c.5419C>A (p.Leu1807Met) c.5416C>A (p.Leu1806Met) n.5502C>A | gnomAD v4 |
| 19 | g.38486074C>G | CA405655148 | RYR1 | c.5419C>G (p.Leu1807Val) c.5416C>G (p.Leu1806Val) n.5502C>G | gnomAD v4 |
| 19 | g.38486074C>T | CA507353415 | RYR1 | c.5419C>T (p.Leu1807=) c.5416C>T (p.Leu1806=) n.5502C>T | |
| 19 | g.38486075T>A | CA405655151 | RYR1 | c.5420T>A (p.Leu1807Gln) c.5417T>A (p.Leu1806Gln) n.5503T>A | |
| 19 | g.38486075T>C | CA405655154 | RYR1 | c.5420T>C (p.Leu1807Pro) c.5417T>C (p.Leu1806Pro) n.5503T>C | |
| 19 | g.38486075T>G | CA405655157 | RYR1 | c.5420T>G (p.Leu1807Arg) c.5417T>G (p.Leu1806Arg) n.5503T>G | dbSNP gnomAD v4 |
| 19 | g.38486075T= | CA2335046390 | RYR1 | c.5420T= (p.Leu1807=) c.5417T= (p.Leu1806=) n.5503T= | |
| 19 | g.38486076G>A | CA507353417 | RYR1 | c.5421G>A (p.Leu1807=) c.5418G>A (p.Leu1806=) n.5504G>A | |
| 19 | g.38486076G>C | CA507353418 | RYR1 | c.5421G>C (p.Leu1807=) c.5418G>C (p.Leu1806=) n.5504G>C | gnomAD v4 |
| 19 | g.38486076G>T | CA507353419 | RYR1 | c.5421G>T (p.Leu1807=) c.5418G>T (p.Leu1806=) n.5504G>T | |
| 19 | g.38486077C>A | CA507353420 | RYR1 | c.5422C>A (p.Arg1808=) c.5419C>A (p.Arg1807=) n.5505C>A | |
| 19 | g.38486077C= | CA2335046391 | RYR1 | c.5422C= (p.Arg1808=) c.5419C= (p.Arg1807=) n.5505C= | |
| 19 | g.38486077C>G | CA405655159 | RYR1 | c.5422C>G (p.Arg1808Gly) c.5419C>G (p.Arg1807Gly) n.5505C>G | |
| 19 | g.38486077C>T | CA067084 | RYR1 | c.5422C>T (p.Arg1808Trp) c.5419C>T (p.Arg1807Trp) n.5505C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38486078G>A | CA067087 | RYR1 | c.5423G>A (p.Arg1808Gln) c.5420G>A (p.Arg1807Gln) n.5506G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486078G>C | CA405655165 | RYR1 | c.5423G>C (p.Arg1808Pro) c.5420G>C (p.Arg1807Pro) n.5506G>C | dbSNP |
| 19 | g.38486078G= | CA2335046392 | RYR1 | c.5423G= (p.Arg1808=) c.5420G= (p.Arg1807=) n.5506G= | |
| 19 | g.38486078G>T | CA405655169 | RYR1 | c.5423G>T (p.Arg1808Leu) c.5420G>T (p.Arg1807Leu) n.5506G>T | |
| 19 | g.38486079G>A | CA507353424 | RYR1 | c.5424G>A (p.Arg1808=) c.5421G>A (p.Arg1807=) n.5507G>A | ClinVar |
| 19 | g.38486079G>C | CA507353425 | RYR1 | c.5424G>C (p.Arg1808=) c.5421G>C (p.Arg1807=) n.5507G>C | |
| 19 | g.38486079G>T | CA507353426 | RYR1 | c.5424G>T (p.Arg1808=) c.5421G>T (p.Arg1807=) n.5507G>T | |
| 19 | g.38486080G>A | CA405655176 | RYR1 | c.5425G>A (p.Asp1809Asn) c.5422G>A (p.Asp1808Asn) n.5508G>A | ClinVar |
| 19 | g.38486080G>C | CA405655179 | RYR1 | c.5425G>C (p.Asp1809His) c.5422G>C (p.Asp1808His) n.5508G>C | |
| 19 | g.38486080G>T | CA405655173 | RYR1 | c.5425G>T (p.Asp1809Tyr) c.5422G>T (p.Asp1808Tyr) n.5508G>T | gnomAD v4 |
| 19 | g.38486081A>C | CA405655182 | RYR1 | c.5426A>C (p.Asp1809Ala) c.5423A>C (p.Asp1808Ala) n.5509A>C | |
| 19 | g.38486081A>G | CA405655183 | RYR1 | c.5426A>G (p.Asp1809Gly) c.5423A>G (p.Asp1808Gly) n.5509A>G | |
| 19 | g.38486081A>T | CA405655185 | RYR1 | c.5426A>T (p.Asp1809Val) c.5423A>T (p.Asp1808Val) n.5509A>T | |
| 19 | g.38486082C>A | CA405655188 | RYR1 | c.5427C>A (p.Asp1809Glu) c.5424C>A (p.Asp1808Glu) n.5510C>A | gnomAD v4 COSMIC |
| 19 | g.38486082C= | CA2335046393 | RYR1 | c.5427C= (p.Asp1809=) c.5424C= (p.Asp1808=) n.5510C= | |
| 19 | g.38486082C>G | CA067088 | RYR1 | c.5427C>G (p.Asp1809Glu) c.5424C>G (p.Asp1808Glu) n.5510C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486082C>T | CA507353429 | RYR1 | c.5427C>T (p.Asp1809=) c.5424C>T (p.Asp1808=) n.5510C>T | |
| 19 | g.38486083A= | CA2335046394 | RYR1 | c.5428A= (p.Lys1810=) c.5425A= (p.Lys1809=) n.5511A= | |
| 19 | g.38486083A>C | CA405655191 | RYR1 | c.5428A>C (p.Lys1810Gln) c.5425A>C (p.Lys1809Gln) n.5511A>C | |
| 19 | g.38486083A>G | CA405655193 | RYR1 | c.5428A>G (p.Lys1810Glu) c.5425A>G (p.Lys1809Glu) n.5511A>G | dbSNP gnomAD v4 |
| 19 | g.38486083A>T | CA405655199 | RYR1 | c.5428A>T (p.Lys1810Ter) c.5425A>T (p.Lys1809Ter) n.5511A>T | |
| 19 | g.38486084A>C | CA405655203 | RYR1 | c.5429A>C (p.Lys1810Thr) c.5426A>C (p.Lys1809Thr) n.5512A>C | |
| 19 | g.38486084A>G | CA405655213 | RYR1 | c.5429A>G (p.Lys1810Arg) c.5426A>G (p.Lys1809Arg) n.5512A>G | |
| 19 | g.38486084A>T | CA405655219 | RYR1 | c.5429A>T (p.Lys1810Met) c.5426A>T (p.Lys1809Met) n.5512A>T | |
| 19 | g.38486085G>A | CA507353433 | RYR1 | c.5430G>A (p.Lys1810=) c.5427G>A (p.Lys1809=) n.5513G>A | ClinVar dbSNP |
| 19 | g.38486085G>C | CA405655221 | RYR1 | c.5430G>C (p.Lys1810Asn) c.5427G>C (p.Lys1809Asn) n.5513G>C | |
| 19 | g.38486085G>T | CA405655224 | RYR1 | c.5430G>T (p.Lys1810Asn) c.5427G>T (p.Lys1809Asn) n.5513G>T | |
| 19 | g.38486086G>A | CA308093845 | RYR1 | c.5431G>A (p.Ala1811Thr) c.5428G>A (p.Ala1810Thr) n.5514G>A | dbSNP gnomAD v4 |
| 19 | g.38486086G>C | CA405655234 | RYR1 | c.5431G>C (p.Ala1811Pro) c.5428G>C (p.Ala1810Pro) n.5514G>C | |
| 19 | g.38486086G= | CA2335046395 | RYR1 | c.5431G= (p.Ala1811=) c.5428G= (p.Ala1810=) n.5514G= | |
| 19 | g.38486086G>T | CA405655228 | RYR1 | c.5431G>T (p.Ala1811Ser) c.5428G>T (p.Ala1810Ser) n.5514G>T | ClinVar dbSNP gnomAD v2 |
| 19 | g.38486087C>A | CA405655239 | RYR1 | c.5432C>A (p.Ala1811Glu) c.5429C>A (p.Ala1810Glu) n.5515C>A | |
| 19 | g.38486087C>G | CA405655243 | RYR1 | c.5432C>G (p.Ala1811Gly) c.5429C>G (p.Ala1810Gly) n.5515C>G | |
| 19 | g.38486087C>T | CA405655250 | RYR1 | c.5432C>T (p.Ala1811Val) c.5429C>T (p.Ala1810Val) n.5515C>T | |
| 19 | g.38486088A>C | CA507353435 | RYR1 | c.5433A>C (p.Ala1811=) c.5430A>C (p.Ala1810=) n.5516A>C | |
| 19 | g.38486088A>G | CA507353437 | RYR1 | c.5433A>G (p.Ala1811=) c.5430A>G (p.Ala1810=) n.5516A>G | |
| 19 | g.38486088A>T | CA507353439 | RYR1 | c.5433A>T (p.Ala1811=) c.5430A>T (p.Ala1810=) n.5516A>T | |
| 19 | g.38486089C>A | CA405655252 | RYR1 | c.5434C>A (p.Leu1812Met) c.5431C>A (p.Leu1811Met) n.5517C>A | |
| 19 | g.38486089C>G | CA405655261 | RYR1 | c.5434C>G (p.Leu1812Val) c.5431C>G (p.Leu1811Val) n.5517C>G | |
| 19 | g.38486089C>T | CA507353441 | RYR1 | c.5434C>T (p.Leu1812=) c.5431C>T (p.Leu1811=) n.5517C>T | |
| 19 | g.38486090T>A | CA405655266 | RYR1 | c.5435T>A (p.Leu1812Gln) c.5432T>A (p.Leu1811Gln) n.5518T>A | |
| 19 | g.38486090T>C | CA405655274 | RYR1 | c.5435T>C (p.Leu1812Pro) c.5432T>C (p.Leu1811Pro) n.5518T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.38486090T>G | CA405655277 | RYR1 | c.5435T>G (p.Leu1812Arg) c.5432T>G (p.Leu1811Arg) n.5518T>G | gnomAD v4 |
| 19 | g.38486090T= | CA2335046396 | RYR1 | c.5435T= (p.Leu1812=) c.5432T= (p.Leu1811=) n.5518T= | |
| 19 | g.38486091G>A | CA067092 | RYR1 | c.5436G>A (p.Leu1812=) c.5433G>A (p.Leu1811=) n.5519G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486091G>C | CA507353442 | RYR1 | c.5436G>C (p.Leu1812=) c.5433G>C (p.Leu1811=) n.5519G>C | |
| 19 | g.38486091G= | CA2335046397 | RYR1 | c.5436G= (p.Leu1812=) c.5433G= (p.Leu1811=) n.5519G= | |
| 19 | g.38486091G>T | CA507353443 | RYR1 | c.5436G>T (p.Leu1812=) c.5433G>T (p.Leu1811=) n.5519G>T | |
| 19 | g.38486092A>C | CA507353444 | RYR1 | c.5437A>C (p.Arg1813=) c.5434A>C (p.Arg1812=) n.5520A>C | |
| 19 | g.38486092A>G | CA405655287 | RYR1 | c.5437A>G (p.Arg1813Gly) c.5434A>G (p.Arg1812Gly) n.5520A>G | |
| 19 | g.38486092A>T | CA405655289 | RYR1 | c.5437A>T (p.Arg1813Trp) c.5434A>T (p.Arg1812Trp) n.5520A>T | |
| 19 | g.38486093G>A | CA405655295 | RYR1 | c.5438G>A (p.Arg1813Lys) c.5435G>A (p.Arg1812Lys) n.5521G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.38486093G>C | CA405655297 | RYR1 | c.5438G>C (p.Arg1813Thr) c.5435G>C (p.Arg1812Thr) n.5521G>C | |
| 19 | g.38486093G= | CA2335046398 | RYR1 | c.5438G= (p.Arg1813=) c.5435G= (p.Arg1812=) n.5521G= | |
| 19 | g.38486093G>T | CA10648633 | RYR1 | c.5438G>T (p.Arg1813Met) c.5435G>T (p.Arg1812Met) n.5521G>T | ClinVar dbSNP |
| 19 | g.38486094G>A | CA067095 | RYR1 | c.5439G>A (p.Arg1813=) c.5436G>A (p.Arg1812=) n.5522G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486094G>C | CA405655310 | RYR1 | c.5439G>C (p.Arg1813Ser) c.5436G>C (p.Arg1812Ser) n.5522G>C | |
| 19 | g.38486094G= | CA2335046399 | RYR1 | c.5439G= (p.Arg1813=) c.5436G= (p.Arg1812=) n.5522G= | |
| 19 | g.38486094G>T | CA405655302 | RYR1 | c.5439G>T (p.Arg1813Ser) c.5436G>T (p.Arg1812Ser) n.5522G>T | gnomAD v4 |
| 19 | g.38486095A>C | CA405655312 | RYR1 | c.5440A>C (p.Met1814Leu) c.5437A>C (p.Met1813Leu) n.5523A>C | gnomAD v4 |
| 19 | g.38486095A>G | CA405655316 | RYR1 | c.5440A>G (p.Met1814Val) c.5437A>G (p.Met1813Val) n.5523A>G | ClinVar dbSNP |
| 19 | g.38486095A>T | CA405655318 | RYR1 | c.5440A>T (p.Met1814Leu) c.5437A>T (p.Met1813Leu) n.5523A>T | |
| 19 | g.38486096T>A | CA024520 | RYR1 | c.5441T>A (p.Met1814Lys) c.5438T>A (p.Met1813Lys) n.5524T>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.38486096T>C | CA405655320 | RYR1 | c.5441T>C (p.Met1814Thr) c.5438T>C (p.Met1813Thr) n.5524T>C | |
| 19 | g.38486096T>G | CA405655322 | RYR1 | c.5441T>G (p.Met1814Arg) c.5438T>G (p.Met1813Arg) n.5524T>G | |
| 19 | g.38486096T= | CA2335046400 | RYR1 | c.5441T= (p.Met1814=) c.5438T= (p.Met1813=) n.5524T= | |
| 19 | g.38486097G>A | CA081788 | RYR1 | c.5442G>A (p.Met1814Ile) c.5439G>A (p.Met1813Ile) n.5525G>A | ClinVar gnomAD v4 |
| 19 | g.38486097G>C | CA405655324 | RYR1 | c.5442G>C (p.Met1814Ile) c.5439G>C (p.Met1813Ile) n.5525G>C | |
| 19 | g.38486097G>T | CA405655327 | RYR1 | c.5442G>T (p.Met1814Ile) c.5439G>T (p.Met1813Ile) n.5525G>T | |
| 19 | g.38486098C>A | CA405655329 | RYR1 | c.5443C>A (p.Leu1815Met) c.5440C>A (p.Leu1814Met) n.5526C>A | |
| 19 | g.38486098C= | CA2335046401 | RYR1 | c.5443C= (p.Leu1815=) c.5440C= (p.Leu1814=) n.5526C= | |
| 19 | g.38486098C>G | CA405655330 | RYR1 | c.5443C>G (p.Leu1815Val) c.5440C>G (p.Leu1814Val) n.5526C>G | |
| 19 | g.38486098C>T | CA507353451 | RYR1 | c.5443C>T (p.Leu1815=) c.5440C>T (p.Leu1814=) n.5526C>T | dbSNP gnomAD v2 |
| 19 | g.38486099del | CA2695228663 | RYR1 | c.5444del (p.Leu1815ArgfsTer?) c.5441del (p.Leu1814ArgfsTer?) n.5527del | |
| 19 | g.38486099T>A | CA405655331 | RYR1 | c.5444T>A (p.Leu1815Gln) c.5441T>A (p.Leu1814Gln) n.5527T>A | |
| 19 | g.38486099T>C | CA405655332 | RYR1 | c.5444T>C (p.Leu1815Pro) c.5441T>C (p.Leu1814Pro) n.5527T>C | |
| 19 | g.38486099T>G | CA405655333 | RYR1 | c.5444T>G (p.Leu1815Arg) c.5441T>G (p.Leu1814Arg) n.5527T>G | ClinVar |
| 19 | g.38486100G>A | CA507353452 | RYR1 | c.5445G>A (p.Leu1815=) c.5442G>A (p.Leu1814=) n.5528G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38486100G>C | CA507353453 | RYR1 | c.5445G>C (p.Leu1815=) c.5442G>C (p.Leu1814=) n.5528G>C | |
| 19 | g.38486100G= | CA2335046402 | RYR1 | c.5445G= (p.Leu1815=) c.5442G= (p.Leu1814=) n.5528G= | |
| 19 | g.38486100G>T | CA507353454 | RYR1 | c.5445G>T (p.Leu1815=) c.5442G>T (p.Leu1814=) n.5528G>T | |
| 19 | g.38486104del | CA2573054753 | RYR1 | c.5449del (p.Glu1817ArgfsTer?) c.5446del (p.Glu1816ArgfsTer?) n.5532del | ClinVar dbSNP gnomAD v4 |
| 19 | g.38486101G>A | CA405655334 | RYR1 | c.5446G>A (p.Gly1816Arg) c.5443G>A (p.Gly1815Arg) n.5529G>A | |
| 19 | g.38486101G>C | CA405655339 | RYR1 | c.5446G>C (p.Gly1816Arg) c.5443G>C (p.Gly1815Arg) n.5529G>C | |
| 19 | g.38486101G>T | CA405655337 | RYR1 | c.5446G>T (p.Gly1816Trp) c.5443G>T (p.Gly1815Trp) n.5529G>T | COSMIC |
| 19 | g.38486102G>A | CA405655341 | RYR1 | c.5447G>A (p.Gly1816Glu) c.5444G>A (p.Gly1815Glu) n.5530G>A | |
| 19 | g.38486102G>C | CA405655352 | RYR1 | c.5447G>C (p.Gly1816Ala) c.5444G>C (p.Gly1815Ala) n.5530G>C | gnomAD v4 |
| 19 | g.38486102G>T | CA405655357 | RYR1 | c.5447G>T (p.Gly1816Val) c.5444G>T (p.Gly1815Val) n.5530G>T | |
| 19 | g.38486103G>A | CA507353456 | RYR1 | c.5448G>A (p.Gly1816=) c.5445G>A (p.Gly1815=) n.5531G>A | |
| 19 | g.38486103G>C | CA507353457 | RYR1 | c.5448G>C (p.Gly1816=) c.5445G>C (p.Gly1815=) n.5531G>C | |
| 19 | g.38486103G>T | CA507353458 | RYR1 | c.5448G>T (p.Gly1816=) c.5445G>T (p.Gly1815=) n.5531G>T | |
| 19 | g.38486104G>A | CA405655360 | RYR1 | c.5449G>A (p.Glu1817Lys) c.5446G>A (p.Glu1816Lys) n.5532G>A | |
| 19 | g.38486104G>C | CA405655361 | RYR1 | c.5449G>C (p.Glu1817Gln) c.5446G>C (p.Glu1816Gln) n.5532G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38486104G= | CA2335046403 | RYR1 | c.5449G= (p.Glu1817=) c.5446G= (p.Glu1816=) n.5532G= | |
| 19 | g.38486104G>T | CA405655363 | RYR1 | c.5449G>T (p.Glu1817Ter) c.5446G>T (p.Glu1816Ter) n.5532G>T | |
| 19 | g.38486105A>C | CA405655364 | RYR1 | c.5450A>C (p.Glu1817Ala) c.5447A>C (p.Glu1816Ala) n.5533A>C | |
| 19 | g.38486105A>G | CA405655367 | RYR1 | c.5450A>G (p.Glu1817Gly) c.5447A>G (p.Glu1816Gly) n.5533A>G | |
| 19 | g.38486105A>T | CA405655369 | RYR1 | c.5450A>T (p.Glu1817Val) c.5447A>T (p.Glu1816Val) n.5533A>T | |
| 19 | g.38486106G>A | CA507353459 | RYR1 | c.5451G>A (p.Glu1817=) c.5448G>A (p.Glu1816=) n.5534G>A | |
| 19 | g.38486106G>C | CA405655370 | RYR1 | c.5451G>C (p.Glu1817Asp) c.5448G>C (p.Glu1816Asp) n.5534G>C | |
| 19 | g.38486106G>T | CA405655373 | RYR1 | c.5451G>T (p.Glu1817Asp) c.5448G>T (p.Glu1816Asp) n.5534G>T | COSMIC |
| 19 | g.38486107G>A | CA405655385 | RYR1 | c.5452G>A (p.Ala1818Thr) c.5449G>A (p.Ala1817Thr) n.5535G>A | gnomAD v4 |
| 19 | g.38486107G>C | CA405655387 | RYR1 | c.5452G>C (p.Ala1818Pro) c.5449G>C (p.Ala1817Pro) n.5535G>C | |
| 19 | g.38486107G>T | CA405655382 | RYR1 | c.5452G>T (p.Ala1818Ser) c.5449G>T (p.Ala1817Ser) n.5535G>T | |
| 19 | g.38486108C>A | CA405655390 | RYR1 | c.5453C>A (p.Ala1818Glu) c.5450C>A (p.Ala1817Glu) n.5536C>A | |
| 19 | g.38486108C= | CA2335046404 | RYR1 | c.5453C= (p.Ala1818=) c.5450C= (p.Ala1817=) n.5536C= | |
| 19 | g.38486108C>G | CA405655395 | RYR1 | c.5453C>G (p.Ala1818Gly) c.5450C>G (p.Ala1817Gly) n.5536C>G | COSMIC |
| 19 | g.38486108C>T | CA405655393 | RYR1 | c.5453C>T (p.Ala1818Val) c.5450C>T (p.Ala1817Val) n.5536C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38486109G>A | CA067099 | RYR1 | c.5454G>A (p.Ala1818=) c.5451G>A (p.Ala1817=) n.5537G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38486109G>C | CA067100 | RYR1 | c.5454G>C (p.Ala1818=) c.5451G>C (p.Ala1817=) n.5537G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38486109G= | CA2335046405 | RYR1 | c.5454G= (p.Ala1818=) c.5451G= (p.Ala1817=) n.5537G= | |
| 19 | g.38486109G>T | CA507353463 | RYR1 | c.5454G>T (p.Ala1818=) c.5451G>T (p.Ala1817=) n.5537G>T | |
| 19 | g.38486110G>A | CA405655404 | RYR1 | c.5455G>A (p.Val1819Met) c.5452G>A (p.Val1818Met) n.5538G>A | COSMIC |
| 19 | g.38486110G>C | CA405655411 | RYR1 | c.5455G>C (p.Val1819Leu) c.5452G>C (p.Val1818Leu) n.5538G>C | |
| 19 | g.38486110G>T | CA405655405 | RYR1 | c.5455G>T (p.Val1819Leu) c.5452G>T (p.Val1818Leu) n.5538G>T | |
| 19 | g.38486111T>A | CA405655414 | RYR1 | c.5456T>A (p.Val1819Glu) c.5453T>A (p.Val1818Glu) n.5539T>A | |
| 19 | g.38486111T>C | CA405655420 | RYR1 | c.5456T>C (p.Val1819Ala) c.5453T>C (p.Val1818Ala) n.5539T>C | |
| 19 | g.38486111T>G | CA405655424 | RYR1 | c.5456T>G (p.Val1819Gly) c.5453T>G (p.Val1818Gly) n.5539T>G | |
| 19 | g.38486112G>A | CA081789 | RYR1 | c.5457G>A (p.Val1819=) c.5454G>A (p.Val1818=) n.5540G>A | dbSNP gnomAD v2 |
| 19 | g.38486112G>C | CA081790 | RYR1 | c.5457G>C (p.Val1819=) c.5454G>C (p.Val1818=) n.5540G>C | dbSNP |
| 19 | g.38486112G= | CA2335046406 | RYR1 | c.5457G= (p.Val1819=) c.5454G= (p.Val1818=) n.5540G= | |
| 19 | g.38486112G>T | CA507353466 | RYR1 | c.5457G>T (p.Val1819=) c.5454G>T (p.Val1818=) n.5540G>T | |
| 19 | g.38486113C>A | CA405655431 | RYR1 | c.5458C>A (p.Arg1820Ser) c.5455C>A (p.Arg1819Ser) n.5541C>A | gnomAD v4 |
| 19 | g.38486113C= | CA2335046407 | RYR1 | c.5458C= (p.Arg1820=) c.5455C= (p.Arg1819=) n.5541C= | |
| 19 | g.38486113C>G | CA405655434 | RYR1 | c.5458C>G (p.Arg1820Gly) c.5455C>G (p.Arg1819Gly) n.5541C>G | |
| 19 | g.38486113C>T | CA067103 | RYR1 | c.5458C>T (p.Arg1820Cys) c.5455C>T (p.Arg1819Cys) n.5541C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38486114G>A | CA067108 | RYR1 | c.5459G>A (p.Arg1820His) c.5456G>A (p.Arg1819His) n.5542G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38486114G>C | CA405655445 | RYR1 | c.5459G>C (p.Arg1820Pro) c.5456G>C (p.Arg1819Pro) n.5542G>C | |
| 19 | g.38486114G= | CA2335046408 | RYR1 | c.5459G= (p.Arg1820=) c.5456G= (p.Arg1819=) n.5542G= | |
| 19 | g.38486114G>T | CA308093857 | RYR1 | c.5459G>T (p.Arg1820Leu) c.5456G>T (p.Arg1819Leu) n.5542G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486115C>A | CA507353468 | RYR1 | c.5460C>A (p.Arg1820=) c.5457C>A (p.Arg1819=) n.5543C>A | |
| 19 | g.38486115C= | CA2335046409 | RYR1 | c.5460C= (p.Arg1820=) c.5457C= (p.Arg1819=) n.5543C= | |
| 19 | g.38486115C>G | CA507353469 | RYR1 | c.5460C>G (p.Arg1820=) c.5457C>G (p.Arg1819=) n.5543C>G | |
| 19 | g.38486115C>T | CA507353470 | RYR1 | c.5460C>T (p.Arg1820=) c.5457C>T (p.Arg1819=) n.5543C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38486116G>A | CA067121 | RYR1 | c.5461G>A (p.Asp1821Asn) c.5458G>A (p.Asp1820Asn) n.5544G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38486116G>C | CA405655449 | RYR1 | c.5461G>C (p.Asp1821His) c.5458G>C (p.Asp1820His) n.5544G>C | |
| 19 | g.38486116G= | CA2335046410 | RYR1 | c.5461G= (p.Asp1821=) c.5458G= (p.Asp1820=) n.5544G= | |
| 19 | g.38486116G>T | CA081791 | RYR1 | c.5461G>T (p.Asp1821Tyr) c.5458G>T (p.Asp1820Tyr) n.5544G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486117A>C | CA405655450 | RYR1 | c.5462A>C (p.Asp1821Ala) c.5459A>C (p.Asp1820Ala) n.5545A>C | |
| 19 | g.38486117A>G | CA405655453 | RYR1 | c.5462A>G (p.Asp1821Gly) c.5459A>G (p.Asp1820Gly) n.5545A>G | |
| 19 | g.38486117A>T | CA405655451 | RYR1 | c.5462A>T (p.Asp1821Val) c.5459A>T (p.Asp1820Val) n.5545A>T | |
| 19 | g.38486118C>A | CA405655459 | RYR1 | c.5463C>A (p.Asp1821Glu) c.5460C>A (p.Asp1820Glu) n.5546C>A | |
| 19 | g.38486118C= | CA2335046411 | RYR1 | c.5463C= (p.Asp1821=) c.5460C= (p.Asp1820=) n.5546C= | |
| 19 | g.38486118C>G | CA405655460 | RYR1 | c.5463C>G (p.Asp1821Glu) c.5460C>G (p.Asp1820Glu) n.5546C>G | |
| 19 | g.38486118C>T | CA067129 | RYR1 | c.5463C>T (p.Asp1821=) c.5460C>T (p.Asp1820=) n.5546C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38486119G>A | CA081793 | RYR1 | c.5464G>A (p.Gly1822Ser) c.5461G>A (p.Gly1821Ser) n.5547G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38486119G>C | CA405655468 | RYR1 | c.5464G>C (p.Gly1822Arg) c.5461G>C (p.Gly1821Arg) n.5547G>C | |
| 19 | g.38486119G= | CA2335046412 | RYR1 | c.5464G= (p.Gly1822=) c.5461G= (p.Gly1821=) n.5547G= | |
| 19 | g.38486119G>T | CA081794 | RYR1 | c.5464G>T (p.Gly1822Cys) c.5461G>T (p.Gly1821Cys) n.5547G>T | gnomAD v4 COSMIC |
| 19 | g.38486120G>A | CA405655473 | RYR1 | c.5465G>A (p.Gly1822Asp) c.5462G>A (p.Gly1821Asp) n.5548G>A | ClinVar |
| 19 | g.38486120G>C | CA405655475 | RYR1 | c.5465G>C (p.Gly1822Ala) c.5462G>C (p.Gly1821Ala) n.5548G>C | |
| 19 | g.38486120G>T | CA405655477 | RYR1 | c.5465G>T (p.Gly1822Val) c.5462G>T (p.Gly1821Val) n.5548G>T | |
| 19 | g.38486121T>A | CA507353474 | RYR1 | c.5466T>A (p.Gly1822=) c.5463T>A (p.Gly1821=) n.5549T>A | |
| 19 | g.38486121T>C | CA507353476 | RYR1 | c.5466T>C (p.Gly1822=) c.5463T>C (p.Gly1821=) n.5549T>C | |
| 19 | g.38486121T>G | CA507353477 | RYR1 | c.5466T>G (p.Gly1822=) c.5463T>G (p.Gly1821=) n.5549T>G | |
| 19 | g.38486122G>A | CA405655485 | RYR1 | c.5467G>A (p.Gly1823Arg) c.5464G>A (p.Gly1822Arg) n.5550G>A | dbSNP gnomAD v2 |
| 19 | g.38486122G>C | CA405655487 | RYR1 | c.5467G>C (p.Gly1823Arg) c.5464G>C (p.Gly1822Arg) n.5550G>C | |
| 19 | g.38486122G= | CA2335046413 | RYR1 | c.5467G= (p.Gly1823=) c.5464G= (p.Gly1822=) n.5550G= | |
| 19 | g.38486122G>T | CA405655483 | RYR1 | c.5467G>T (p.Gly1823Trp) c.5464G>T (p.Gly1822Trp) n.5550G>T | |
| 19 | g.38486123G>A | CA067133 | RYR1 | c.5468G>A (p.Gly1823Glu) c.5465G>A (p.Gly1822Glu) n.5551G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486123G>C | CA067136 | RYR1 | c.5468G>C (p.Gly1823Ala) c.5465G>C (p.Gly1822Ala) n.5551G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38486123G= | CA2335046414 | RYR1 | c.5468G= (p.Gly1823=) c.5465G= (p.Gly1822=) n.5551G= | |
| 19 | g.38486123G>T | CA405655493 | RYR1 | c.5468G>T (p.Gly1823Val) c.5465G>T (p.Gly1822Val) n.5551G>T | |
| 19 | g.38486123_38486125del | CA2584898024 | RYR1 | c.5468_5470del (p.Gly1823_Gln1824delinsGlu) c.5465_5467del (p.Gly1822_Gln1823delinsGlu) n.5551_5553del | gnomAD v4 |
| 19 | g.38486124G>A | CA10587316 | RYR1 | c.5469G>A (p.Gly1823=) c.5466G>A (p.Gly1822=) n.5552G>A | ClinVar dbSNP COSMIC |
| 19 | g.38486124G>C | CA507353480 | RYR1 | c.5469G>C (p.Gly1823=) c.5466G>C (p.Gly1822=) n.5552G>C | |
| 19 | g.38486124G= | CA2335046415 | RYR1 | c.5469G= (p.Gly1823=) c.5466G= (p.Gly1822=) n.5552G= | |
| 19 | g.38486124G>T | CA507353481 | RYR1 | c.5469G>T (p.Gly1823=) c.5466G>T (p.Gly1822=) n.5552G>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38486125C>A | CA405655505 | RYR1 | c.5470C>A (p.Gln1824Lys) c.5467C>A (p.Gln1823Lys) n.5553C>A | COSMIC |
| 19 | g.38486125C>G | CA405655509 | RYR1 | c.5470C>G (p.Gln1824Glu) c.5467C>G (p.Gln1823Glu) n.5553C>G | |
| 19 | g.38486125C>T | CA405655516 | RYR1 | c.5470C>T (p.Gln1824Ter) c.5467C>T (p.Gln1823Ter) n.5553C>T | |
| 19 | g.38486126A>C | CA405655519 | RYR1 | c.5471A>C (p.Gln1824Pro) c.5468A>C (p.Gln1823Pro) n.5554A>C | ClinVar |
| 19 | g.38486126A>G | CA405655522 | RYR1 | c.5471A>G (p.Gln1824Arg) c.5468A>G (p.Gln1823Arg) n.5554A>G | |
| 19 | g.38486126A>T | CA405655531 | RYR1 | c.5471A>T (p.Gln1824Leu) c.5468A>T (p.Gln1823Leu) n.5554A>T | |
| 19 | g.38486127G>A | CA507353482 | RYR1 | c.5472G>A (p.Gln1824=) c.5469G>A (p.Gln1823=) n.5555G>A | gnomAD v4 |
| 19 | g.38486127G>C | CA308093887 | RYR1 | c.5472G>C (p.Gln1824His) c.5469G>C (p.Gln1823His) n.5555G>C | dbSNP gnomAD v4 |
| 19 | g.38486127G= | CA2335046416 | RYR1 | c.5472G= (p.Gln1824=) c.5469G= (p.Gln1823=) n.5555G= | |
| 19 | g.38486127G>T | CA405655550 | RYR1 | c.5472G>T (p.Gln1824His) c.5469G>T (p.Gln1823His) n.5555G>T | |
| 19 | g.38486128C>A | CA308093893 | RYR1 | c.5473C>A (p.His1825Asn) c.5470C>A (p.His1824Asn) n.5556C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38486128C= | CA2335046417 | RYR1 | c.5473C= (p.His1825=) c.5470C= (p.His1824=) n.5556C= | |
| 19 | g.38486128C>G | CA405655557 | RYR1 | c.5473C>G (p.His1825Asp) c.5470C>G (p.His1824Asp) n.5556C>G | |
| 19 | g.38486128C>T | CA405655552 | RYR1 | c.5473C>T (p.His1825Tyr) c.5470C>T (p.His1824Tyr) n.5556C>T | |
| 19 | g.38486129_38486139del | CA2584898025 | RYR1 | c.5474_5484del (p.His1825ProfsTer29) c.5471_5481del (p.His1824ProfsTer29) n.5557_5567del | gnomAD v4 |
| 19 | g.38486129A>C | CA405655562 | RYR1 | c.5474A>C (p.His1825Pro) c.5471A>C (p.His1824Pro) n.5557A>C | |
| 19 | g.38486129A>G | CA405655566 | RYR1 | c.5474A>G (p.His1825Arg) c.5471A>G (p.His1824Arg) n.5557A>G | |
| 19 | g.38486129A>T | CA405655571 | RYR1 | c.5474A>T (p.His1825Leu) c.5471A>T (p.His1824Leu) n.5557A>T | |
| 19 | g.38486130C>A | CA405655574 | RYR1 | c.5475C>A (p.His1825Gln) c.5472C>A (p.His1824Gln) n.5558C>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38486130C= | CA2335046418 | RYR1 | c.5475C= (p.His1825=) c.5472C= (p.His1824=) n.5558C= | |
| 19 | g.38486130C>G | CA405655577 | RYR1 | c.5475C>G (p.His1825Gln) c.5472C>G (p.His1824Gln) n.5558C>G | |
| 19 | g.38486130C>T | CA067145 | RYR1 | c.5475C>T (p.His1825=) c.5472C>T (p.His1824=) n.5558C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486131G>A | CA067149 | RYR1 | c.5476G>A (p.Ala1826Thr) c.5473G>A (p.Ala1825Thr) n.5559G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38486131G>C | CA405655589 | RYR1 | c.5476G>C (p.Ala1826Pro) c.5473G>C (p.Ala1825Pro) n.5559G>C | COSMIC |
| 19 | g.38486131G= | CA2335046419 | RYR1 | c.5476G= (p.Ala1826=) c.5473G= (p.Ala1825=) n.5559G= | |
| 19 | g.38486131G>T | CA405655587 | RYR1 | c.5476G>T (p.Ala1826Ser) c.5473G>T (p.Ala1825Ser) n.5559G>T | |
| 19 | g.38486132C>A | CA405655592 | RYR1 | c.5477C>A (p.Ala1826Asp) c.5474C>A (p.Ala1825Asp) n.5560C>A | |
| 19 | g.38486132C>G | CA405655594 | RYR1 | c.5477C>G (p.Ala1826Gly) c.5474C>G (p.Ala1825Gly) n.5560C>G | |
| 19 | g.38486132C>T | CA405655601 | RYR1 | c.5477C>T (p.Ala1826Val) c.5474C>T (p.Ala1825Val) n.5560C>T | |
| 19 | g.38486133T>A | CA507353488 | RYR1 | c.5478T>A (p.Ala1826=) c.5475T>A (p.Ala1825=) n.5561T>A | |
| 19 | g.38486133T>C | CA9415811 | RYR1 | c.5478T>C (p.Ala1826=) c.5475T>C (p.Ala1825=) n.5561T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38486133T>G | CA507353487 | RYR1 | c.5478T>G (p.Ala1826=) c.5475T>G (p.Ala1825=) n.5561T>G | |
| 19 | g.38486133T= | CA2335046421 | RYR1 | c.5478T= (p.Ala1826=) c.5475T= (p.Ala1825=) n.5561T= | |
| 19 | g.38486133_38486134delinsTC | CA2335046420 | RYR1 | c.5478_5479delinsTC (p.Ala1826=) c.5475_5476delinsTC (p.Ala1825=) n.5561_5562delinsTC | |
| 19 | g.38486134del | CA9415810 | RYR1 | c.5479del (p.Arg1827AlafsTer24) c.5476del (p.Arg1826AlafsTer24) n.5562del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38486134C>A | CA081799 | RYR1 | c.5479C>A (p.Arg1827Ser) c.5476C>A (p.Arg1826Ser) n.5562C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38486134C= | CA2335046422 | RYR1 | c.5479C= (p.Arg1827=) c.5476C= (p.Arg1826=) n.5562C= | |
| 19 | g.38486134C>G | CA405655609 | RYR1 | c.5479C>G (p.Arg1827Gly) c.5476C>G (p.Arg1826Gly) n.5562C>G | |
| 19 | g.38486134C>T | CA405655612 | RYR1 | c.5479C>T (p.Arg1827Cys) c.5476C>T (p.Arg1826Cys) n.5562C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486136_38486137del | CA081800 | RYR1 | c.5481_5482del (p.Asp1828ProfsTer29) c.5478_5479del (p.Asp1827ProfsTer29) n.5564_5565del | |
| 19 | g.38486135G>A | CA067162 | RYR1 | c.5480G>A (p.Arg1827His) c.5477G>A (p.Arg1826His) n.5563G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38486135G>C | CA405655618 | RYR1 | c.5480G>C (p.Arg1827Pro) c.5477G>C (p.Arg1826Pro) n.5563G>C | |
| 19 | g.38486135G= | CA2335046423 | RYR1 | c.5480G= (p.Arg1827=) c.5477G= (p.Arg1826=) n.5563G= | |
| 19 | g.38486135G>T | CA405655632 | RYR1 | c.5480G>T (p.Arg1827Leu) c.5477G>T (p.Arg1826Leu) n.5563G>T | |
| 19 | g.38486136C>A | CA507353492 | RYR1 | c.5481C>A (p.Arg1827=) c.5478C>A (p.Arg1826=) n.5564C>A | COSMIC |
| 19 | g.38486136C= | CA2335046424 | RYR1 | c.5481C= (p.Arg1827=) c.5478C= (p.Arg1826=) n.5564C= | |
| 19 | g.38486136C>G | CA507353493 | RYR1 | c.5481C>G (p.Arg1827=) c.5478C>G (p.Arg1826=) n.5564C>G | |
| 19 | g.38486136C>T | CA507353494 | RYR1 | c.5481C>T (p.Arg1827=) c.5478C>T (p.Arg1826=) n.5564C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38486137G>A | CA308093933 | RYR1 | c.5482G>A (p.Asp1828Asn) c.5479G>A (p.Asp1827Asn) n.5565G>A | dbSNP gnomAD v4 |
| 19 | g.38486137G>C | CA405655636 | RYR1 | c.5482G>C (p.Asp1828His) c.5479G>C (p.Asp1827His) n.5565G>C | |
| 19 | g.38486137G= | CA2335046425 | RYR1 | c.5482G= (p.Asp1828=) c.5479G= (p.Asp1827=) n.5565G= | |
| 19 | g.38486137G>T | CA405655640 | RYR1 | c.5482G>T (p.Asp1828Tyr) c.5479G>T (p.Asp1827Tyr) n.5565G>T | |
| 19 | g.38486138A>C | CA405655644 | RYR1 | c.5483A>C (p.Asp1828Ala) c.5480A>C (p.Asp1827Ala) n.5566A>C | |
| 19 | g.38486138A>G | CA405655647 | RYR1 | c.5483A>G (p.Asp1828Gly) c.5480A>G (p.Asp1827Gly) n.5566A>G | gnomAD v4 |
| 19 | g.38486138A>T | CA405655650 | RYR1 | c.5483A>T (p.Asp1828Val) c.5480A>T (p.Asp1827Val) n.5566A>T | |
| 19 | g.38486138_38486139delinsAC | CA2335046426 | RYR1 | c.5483_5484delinsAC (p.Asp1828=) c.5480_5481delinsAC (p.Asp1827=) n.5566_5567delinsAC | |
| 19 | g.38486139C>A | CA405655664 | RYR1 | c.5484C>A (p.Asp1828Glu) c.5481C>A (p.Asp1827Glu) n.5567C>A | dbSNP |
| 19 | g.38486139C= | CA2335046427 | RYR1 | c.5484C= (p.Asp1828=) c.5481C= (p.Asp1827=) n.5567C= | |
| 19 | g.38486139C>G | CA405655668 | RYR1 | c.5484C>G (p.Asp1828Glu) c.5481C>G (p.Asp1827Glu) n.5567C>G | gnomAD v4 |
| 19 | g.38486139C>T | CA067165 | RYR1 | c.5484C>T (p.Asp1828=) c.5481C>T (p.Asp1827=) n.5567C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486142del | CA308093936 | RYR1 | c.5487del (p.Val1830SerfsTer21) c.5484del (p.Val1829SerfsTer21) n.5570del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38486140C>A | CA405655686 | RYR1 | c.5485C>A (p.Pro1829Thr) c.5482C>A (p.Pro1828Thr) n.5568C>A | ClinVar |
| 19 | g.38486140C>G | CA405655673 | RYR1 | c.5485C>G (p.Pro1829Ala) c.5482C>G (p.Pro1828Ala) n.5568C>G | |
| 19 | g.38486140C>T | CA405655676 | RYR1 | c.5485C>T (p.Pro1829Ser) c.5482C>T (p.Pro1828Ser) n.5568C>T | gnomAD v4 |
| 19 | g.38486141C>A | CA405655689 | RYR1 | c.5486C>A (p.Pro1829His) c.5483C>A (p.Pro1828His) n.5569C>A | |
| 19 | g.38486141C>G | CA405655690 | RYR1 | c.5486C>G (p.Pro1829Arg) c.5483C>G (p.Pro1828Arg) n.5569C>G | |
| 19 | g.38486141C>T | CA405655692 | RYR1 | c.5486C>T (p.Pro1829Leu) c.5483C>T (p.Pro1828Leu) n.5569C>T | gnomAD v4 |
| 19 | g.38486142C>A | CA067168 | RYR1 | c.5487C>A (p.Pro1829=) c.5484C>A (p.Pro1828=) n.5570C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38486142C= | CA2335046428 | RYR1 | c.5487C= (p.Pro1829=) c.5484C= (p.Pro1828=) n.5570C= | |
| 19 | g.38486142C>G | CA507353499 | RYR1 | c.5487C>G (p.Pro1829=) c.5484C>G (p.Pro1828=) n.5570C>G | |
| 19 | g.38486142C>T | CA067172 | RYR1 | c.5487C>T (p.Pro1829=) c.5484C>T (p.Pro1828=) n.5570C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486143G>A | CA067174 | RYR1 | c.5488G>A (p.Val1830Ile) c.5485G>A (p.Val1829Ile) n.5571G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38486143G>C | CA405655711 | RYR1 | c.5488G>C (p.Val1830Leu) c.5485G>C (p.Val1829Leu) n.5571G>C | |
| 19 | g.38486143G= | CA2335046429 | RYR1 | c.5488G= (p.Val1830=) c.5485G= (p.Val1829=) n.5571G= | |
| 19 | g.38486143G>T | CA405655713 | RYR1 | c.5488G>T (p.Val1830Phe) c.5485G>T (p.Val1829Phe) n.5571G>T | gnomAD v4 |
| 19 | g.38486144T>A | CA405655718 | RYR1 | c.5489T>A (p.Val1830Asp) c.5486T>A (p.Val1829Asp) n.5572T>A | |
| 19 | g.38486144T>C | CA405655720 | RYR1 | c.5489T>C (p.Val1830Ala) c.5486T>C (p.Val1829Ala) n.5572T>C | |
| 19 | g.38486144T>G | CA405655728 | RYR1 | c.5489T>G (p.Val1830Gly) c.5486T>G (p.Val1829Gly) n.5572T>G | |
| 19 | g.38486145C>A | CA081804 | RYR1 | c.5490C>A (p.Val1830=) c.5487C>A (p.Val1829=) n.5573C>A | |
| 19 | g.38486145C= | CA2335046430 | RYR1 | c.5490C= (p.Val1830=) c.5487C= (p.Val1829=) n.5573C= | |
| 19 | g.38486145C>G | CA507353505 | RYR1 | c.5490C>G (p.Val1830=) c.5487C>G (p.Val1829=) n.5573C>G | |
| 19 | g.38486145C>T | CA081805 | RYR1 | c.5490C>T (p.Val1830=) c.5487C>T (p.Val1829=) n.5573C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38486146G>A | CA081806 | RYR1 | c.5491G>A (p.Gly1831Arg) c.5488G>A (p.Gly1830Arg) n.5574G>A | dbSNP |
| 19 | g.38486146G>C | CA405655736 | RYR1 | c.5491G>C (p.Gly1831Arg) c.5488G>C (p.Gly1830Arg) n.5574G>C | |
| 19 | g.38486146G= | CA2335046431 | RYR1 | c.5491G= (p.Gly1831=) c.5488G= (p.Gly1830=) n.5574G= | |
| 19 | g.38486146G>T | CA405655733 | RYR1 | c.5491G>T (p.Gly1831Trp) c.5488G>T (p.Gly1830Trp) n.5574G>T | dbSNP |
| 19 | g.38486150dup | CA2814332822 | RYR1 | c.5495dup (p.Ser1833LeufsTer25) c.5492dup (p.Ser1832LeufsTer25) n.5578dup | |
| 19 | g.38486147G>A | CA405655738 | RYR1 | c.5492G>A (p.Gly1831Glu) c.5489G>A (p.Gly1830Glu) n.5575G>A | |
| 19 | g.38486147G>C | CA405655740 | RYR1 | c.5492G>C (p.Gly1831Ala) c.5489G>C (p.Gly1830Ala) n.5575G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38486147G= | CA2335046432 | RYR1 | c.5492G= (p.Gly1831=) c.5489G= (p.Gly1830=) n.5575G= | |
| 19 | g.38486147G>T | CA405655742 | RYR1 | c.5492G>T (p.Gly1831Val) c.5489G>T (p.Gly1830Val) n.5575G>T | |
| 19 | g.38486148G>A | CA507353507 | RYR1 | c.5493G>A (p.Gly1831=) c.5490G>A (p.Gly1830=) n.5576G>A | COSMIC |
| 19 | g.38486148G>C | CA507353509 | RYR1 | c.5493G>C (p.Gly1831=) c.5490G>C (p.Gly1830=) n.5576G>C | |
| 19 | g.38486148G= | CA2335046433 | RYR1 | c.5493G= (p.Gly1831=) c.5490G= (p.Gly1830=) n.5576G= | |
| 19 | g.38486148G>T | CA024522 | RYR1 | c.5493G>T (p.Gly1831=) c.5490G>T (p.Gly1830=) n.5576G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486149G>A | CA405655747 | RYR1 | c.5494G>A (p.Gly1832Ser) c.5491G>A (p.Gly1831Ser) n.5577G>A | |
| 19 | g.38486149G>C | CA405655748 | RYR1 | c.5494G>C (p.Gly1832Arg) c.5491G>C (p.Gly1831Arg) n.5577G>C | |
| 19 | g.38486149G>T | CA405655751 | RYR1 | c.5494G>T (p.Gly1832Cys) c.5491G>T (p.Gly1831Cys) n.5577G>T | |
| 19 | g.38486150G>A | CA067186 | RYR1 | c.5495G>A (p.Gly1832Asp) c.5492G>A (p.Gly1831Asp) n.5578G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38486150G>C | CA024524 | RYR1 | c.5495G>C (p.Gly1832Ala) c.5492G>C (p.Gly1831Ala) n.5578G>C | ClinVar dbSNP |
| 19 | g.38486150G= | CA2335046434 | RYR1 | c.5495G= (p.Gly1832=) c.5492G= (p.Gly1831=) n.5578G= | |
| 19 | g.38486150G>T | CA405655755 | RYR1 | c.5495G>T (p.Gly1832Val) c.5492G>T (p.Gly1831Val) n.5578G>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38486151C>A | CA507353512 | RYR1 | c.5496C>A (p.Gly1832=) c.5493C>A (p.Gly1831=) n.5579C>A | ClinVar |
| 19 | g.38486151C= | CA2335046435 | RYR1 | c.5496C= (p.Gly1832=) c.5493C= (p.Gly1831=) n.5579C= | |
| 19 | g.38486151C>G | CA507353513 | RYR1 | c.5496C>G (p.Gly1832=) c.5493C>G (p.Gly1831=) n.5579C>G | |
| 19 | g.38486151C>T | CA081807 | RYR1 | c.5496C>T (p.Gly1832=) c.5493C>T (p.Gly1831=) n.5579C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38486152T>A | CA405655762 | RYR1 | c.5497T>A (p.Ser1833Thr) c.5494T>A (p.Ser1832Thr) n.5580T>A | gnomAD v4 |
| 19 | g.38486152T>C | CA405655764 | RYR1 | c.5497T>C (p.Ser1833Pro) c.5494T>C (p.Ser1832Pro) n.5580T>C | |
| 19 | g.38486152T>G | CA405655769 | RYR1 | c.5497T>G (p.Ser1833Ala) c.5494T>G (p.Ser1832Ala) n.5580T>G | |
| 19 | g.38486153C>A | CA405655776 | RYR1 | c.5498C>A (p.Ser1833Tyr) c.5495C>A (p.Ser1832Tyr) n.5581C>A | |
| 19 | g.38486153C>G | CA405655780 | RYR1 | c.5498C>G (p.Ser1833Cys) c.5495C>G (p.Ser1832Cys) n.5581C>G | |
| 19 | g.38486153C>T | CA405655779 | RYR1 | c.5498C>T (p.Ser1833Phe) c.5495C>T (p.Ser1832Phe) n.5581C>T | |
| 19 | g.38486154C>A | CA507353514 | RYR1 | c.5499C>A (p.Ser1833=) c.5496C>A (p.Ser1832=) n.5582C>A | |
| 19 | g.38486154C>G | CA507353515 | RYR1 | c.5499C>G (p.Ser1833=) c.5496C>G (p.Ser1832=) n.5582C>G | |
| 19 | g.38486154C>T | CA081809 | RYR1 | c.5499C>T (p.Ser1833=) c.5496C>T (p.Ser1832=) n.5582C>T | ClinVar gnomAD v4 |
| 19 | g.38486155G>A | CA405655784 | RYR1 | c.5500G>A (p.Val1834Met) c.5497G>A (p.Val1833Met) n.5583G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486155G>C | CA405655787 | RYR1 | c.5500G>C (p.Val1834Leu) c.5497G>C (p.Val1833Leu) n.5583G>C | |
| 19 | g.38486155G= | CA2335046436 | RYR1 | c.5500G= (p.Val1834=) c.5497G= (p.Val1833=) n.5583G= | |
| 19 | g.38486155G>T | CA405655790 | RYR1 | c.5500G>T (p.Val1834Leu) c.5497G>T (p.Val1833Leu) n.5583G>T | |
| 19 | g.38486156T>A | CA405655791 | RYR1 | c.5501T>A (p.Val1834Glu) c.5498T>A (p.Val1833Glu) n.5584T>A | |
| 19 | g.38486156T>C | CA308093975 | RYR1 | c.5501T>C (p.Val1834Ala) c.5498T>C (p.Val1833Ala) n.5584T>C | dbSNP |
| 19 | g.38486156T>G | CA405655792 | RYR1 | c.5501T>G (p.Val1834Gly) c.5498T>G (p.Val1833Gly) n.5584T>G | |
| 19 | g.38486156T= | CA2335046437 | RYR1 | c.5501T= (p.Val1834=) c.5498T= (p.Val1833=) n.5584T= |