Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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= | |
19 | g.38486157G>A | CA507353516 | RYR1 | c.5502G>A (p.Val1834=) c.5499G>A (p.Val1833=) n.5585G>A | |
19 | g.38486157G>C | CA507353517 | RYR1 | c.5502G>C (p.Val1834=) c.5499G>C (p.Val1833=) n.5585G>C | |
19 | g.38486157G>T | CA507353518 | RYR1 | c.5502G>T (p.Val1834=) c.5499G>T (p.Val1833=) n.5585G>T | |
19 | g.38486158G>A | CA405655793 | RYR1 | c.5503G>A (p.Glu1835Lys) c.5500G>A (p.Glu1834Lys) n.5586G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38486158G>C | CA405655794 | RYR1 | c.5503G>C (p.Glu1835Gln) c.5500G>C (p.Glu1834Gln) n.5586G>C | COSMIC |
19 | g.38486158G= | CA2335046438 | RYR1 | c.5503G= (p.Glu1835=) c.5500G= (p.Glu1834=) n.5586G= | |
19 | g.38486158G>T | CA405655795 | RYR1 | c.5503G>T (p.Glu1835Ter) c.5500G>T (p.Glu1834Ter) n.5586G>T | |
19 | g.38486159A= | CA2335046439 | RYR1 | c.5504A= (p.Glu1835=) c.5501A= (p.Glu1834=) n.5587A= | |
19 | g.38486159A>C | CA308093977 | RYR1 | c.5504A>C (p.Glu1835Ala) c.5501A>C (p.Glu1834Ala) n.5587A>C | dbSNP |
19 | g.38486159A>G | CA405655796 | RYR1 | c.5504A>G (p.Glu1835Gly) c.5501A>G (p.Glu1834Gly) n.5587A>G | |
19 | g.38486159A>T | CA405655797 | RYR1 | c.5504A>T (p.Glu1835Val) c.5501A>T (p.Glu1834Val) n.5587A>T | |
19 | g.38486160G>A | CA507353519 | RYR1 | c.5505G>A (p.Glu1835=) c.5502G>A (p.Glu1834=) n.5588G>A | ClinVar |
19 | g.38486160G>C | CA405655798 | RYR1 | c.5505G>C (p.Glu1835Asp) c.5502G>C (p.Glu1834Asp) n.5588G>C | |
19 | g.38486160G>T | CA405655799 | RYR1 | c.5505G>T (p.Glu1835Asp) c.5502G>T (p.Glu1834Asp) n.5588G>T | |
19 | g.38486161T>A | CA405655801 | RYR1 | c.5506T>A (p.Phe1836Ile) c.5503T>A (p.Phe1835Ile) n.5589T>A | |
19 | g.38486161T>C | CA405655811 | RYR1 | c.5506T>C (p.Phe1836Leu) c.5503T>C (p.Phe1835Leu) n.5589T>C | |
19 | g.38486161T>G | CA405655802 | RYR1 | c.5506T>G (p.Phe1836Val) c.5503T>G (p.Phe1835Val) n.5589T>G | |
19 | g.38486161_38486162del | CA2825002784 | RYR1 | c.5506_5507del (p.Phe1836ProfsTer21) c.5503_5504del (p.Phe1835ProfsTer21) n.5589_5590del | ClinVar |
19 | g.38486162T>A | CA405655819 | RYR1 | c.5507T>A (p.Phe1836Tyr) c.5504T>A (p.Phe1835Tyr) n.5590T>A | |
19 | g.38486162T>C | CA405655827 | RYR1 | c.5507T>C (p.Phe1836Ser) c.5504T>C (p.Phe1835Ser) n.5590T>C | dbSNP gnomAD v2 |
19 | g.38486162T>G | CA405655823 | RYR1 | c.5507T>G (p.Phe1836Cys) c.5504T>G (p.Phe1835Cys) n.5590T>G | |
19 | g.38486162T= | CA2335046440 | RYR1 | c.5507T= (p.Phe1836=) c.5504T= (p.Phe1835=) n.5590T= | |
19 | g.38486163C>A | CA405655832 | RYR1 | c.5508C>A (p.Phe1836Leu) c.5505C>A (p.Phe1835Leu) n.5591C>A | gnomAD v4 |
19 | g.38486163C>G | CA405655839 | RYR1 | c.5508C>G (p.Phe1836Leu) c.5505C>G (p.Phe1835Leu) n.5591C>G | |
19 | g.38486163C>T | CA507353523 | RYR1 | c.5508C>T (p.Phe1836=) c.5505C>T (p.Phe1835=) n.5591C>T | |
19 | g.38486163_38486165delinsCCA | CA2335046441 | RYR1 | c.5508_5510delinsCCA (p.Phe1836=) c.5505_5507delinsCCA (p.Phe1835=) n.5591_5593delinsCCA | |
19 | g.38486164C>A | CA405655843 | RYR1 | c.5509C>A (p.Gln1837Lys) c.5506C>A (p.Gln1836Lys) n.5592C>A | |
19 | g.38486164C= | CA2335046442 | RYR1 | c.5509C= (p.Gln1837=) c.5506C= (p.Gln1836=) n.5592C= | |
19 | g.38486164C>G | CA405655846 | RYR1 | c.5509C>G (p.Gln1837Glu) c.5506C>G (p.Gln1836Glu) n.5592C>G | |
19 | g.38486164C>T | CA405655850 | RYR1 | c.5509C>T (p.Gln1837Ter) c.5506C>T (p.Gln1836Ter) n.5592C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38486164_38486165del | CA658799199 | RYR1 | c.5509_5510del (p.Gln1837ValfsTer20) c.5506_5507del (p.Gln1836ValfsTer20) n.5592_5593del | ClinVar dbSNP gnomAD v4 |
19 | g.38486164_38486167del | CA2825002785 | RYR1 | c.5509_5512del (p.Gln1837LeufsTer13) c.5506_5509del (p.Gln1836LeufsTer13) n.5592_5595del | ClinVar |
19 | g.38486165A>C | CA405655854 | RYR1 | c.5510A>C (p.Gln1837Pro) c.5507A>C (p.Gln1836Pro) n.5593A>C | |
19 | g.38486165A>G | CA405655858 | RYR1 | c.5510A>G (p.Gln1837Arg) c.5507A>G (p.Gln1836Arg) n.5593A>G | gnomAD v4 |
19 | g.38486165A>T | CA405655860 | RYR1 | c.5510A>T (p.Gln1837Leu) c.5507A>T (p.Gln1836Leu) n.5593A>T | |
19 | g.38486166G>A | CA507353524 | RYR1 | c.5511G>A (p.Gln1837=) c.5508G>A (p.Gln1836=) n.5594G>A | |
19 | g.38486166G>C | CA405655862 | RYR1 | c.5511G>C (p.Gln1837His) c.5508G>C (p.Gln1836His) n.5594G>C | COSMIC |
19 | g.38486166G= | CA2335046443 | RYR1 | c.5511G= (p.Gln1837=) c.5508G= (p.Gln1836=) n.5594G= | |
19 | g.38486166G>T | CA067205 | RYR1 | c.5511G>T (p.Gln1837His) c.5508G>T (p.Gln1836His) n.5594G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38486167T>A | CA405655877 | RYR1 | c.5512T>A (p.Phe1838Ile) c.5509T>A (p.Phe1837Ile) n.5595T>A | |
19 | g.38486167T>C | CA405655874 | RYR1 | c.5512T>C (p.Phe1838Leu) c.5509T>C (p.Phe1837Leu) n.5595T>C | |
19 | g.38486167T>G | CA405655868 | RYR1 | c.5512T>G (p.Phe1838Val) c.5509T>G (p.Phe1837Val) n.5595T>G | |
19 | g.38486168T>A | CA405655880 | RYR1 | c.5513T>A (p.Phe1838Tyr) c.5510T>A (p.Phe1837Tyr) n.5596T>A | |
19 | g.38486168T>C | CA067209 | RYR1 | c.5513T>C (p.Phe1838Ser) c.5510T>C (p.Phe1837Ser) n.5596T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38486168T>G | CA405655885 | RYR1 | c.5513T>G (p.Phe1838Cys) c.5510T>G (p.Phe1837Cys) n.5596T>G | |
19 | g.38486168T= | CA2335046444 | RYR1 | c.5513T= (p.Phe1838=) c.5510T= (p.Phe1837=) n.5596T= | |
19 | g.38486169T>A | CA405655888 | RYR1 | c.5514T>A (p.Phe1838Leu) c.5511T>A (p.Phe1837Leu) n.5597T>A | |
19 | g.38486169T>C | CA507353528 | RYR1 | c.5514T>C (p.Phe1838=) c.5511T>C (p.Phe1837=) n.5597T>C | |
19 | g.38486169T>G | CA405655892 | RYR1 | c.5514T>G (p.Phe1838Leu) c.5511T>G (p.Phe1837Leu) n.5597T>G | |
19 | g.38486170G>A | CA405655898 | RYR1 | c.5515G>A (p.Val1839Met) c.5512G>A (p.Val1838Met) n.5598G>A | |
19 | g.38486170G>C | CA405655900 | RYR1 | c.5515G>C (p.Val1839Leu) c.5512G>C (p.Val1838Leu) n.5598G>C | |
19 | g.38486170G>T | CA405655903 | RYR1 | c.5515G>T (p.Val1839Leu) c.5512G>T (p.Val1838Leu) n.5598G>T | |
19 | g.38486171T>A | CA405655905 | RYR1 | c.5516T>A (p.Val1839Glu) c.5513T>A (p.Val1838Glu) n.5599T>A | |
19 | g.38486171T>C | CA081811 | RYR1 | c.5516T>C (p.Val1839Ala) c.5513T>C (p.Val1838Ala) n.5599T>C | |
19 | g.38486171T>G | CA405655910 | RYR1 | c.5516T>G (p.Val1839Gly) c.5513T>G (p.Val1838Gly) n.5599T>G | |
19 | g.38486172G>A | CA507353529 | RYR1 | c.5517G>A (p.Val1839=) c.5514G>A (p.Val1838=) n.5600G>A | |
19 | g.38486172G>C | CA507353530 | RYR1 | c.5517G>C (p.Val1839=) c.5514G>C (p.Val1838=) n.5600G>C | |
19 | g.38486172G= | CA2335046445 | RYR1 | c.5517G= (p.Val1839=) c.5514G= (p.Val1838=) n.5600G= | |
19 | g.38486172G>T | CA507353532 | RYR1 | c.5517G>T (p.Val1839=) c.5514G>T (p.Val1838=) n.5600G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38486173C>A | CA405655925 | RYR1 | c.5518C>A (p.Pro1840Thr) c.5515C>A (p.Pro1839Thr) n.5601C>A | |
19 | g.38486173C= | CA2335046446 | RYR1 | c.5518C= (p.Pro1840=) c.5515C= (p.Pro1839=) n.5601C= | |
19 | g.38486173C>G | CA405655921 | RYR1 | c.5518C>G (p.Pro1840Ala) c.5515C>G (p.Pro1839Ala) n.5601C>G | |
19 | g.38486173C>T | CA405655916 | RYR1 | c.5518C>T (p.Pro1840Ser) c.5515C>T (p.Pro1839Ser) n.5601C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38486174C>A | CA405655927 | RYR1 | c.5519C>A (p.Pro1840His) c.5516C>A (p.Pro1839His) n.5602C>A | |
19 | g.38486174C>G | CA405655929 | RYR1 | c.5519C>G (p.Pro1840Arg) c.5516C>G (p.Pro1839Arg) n.5602C>G | |
19 | g.38486174C>T | CA405655938 | RYR1 | c.5519C>T (p.Pro1840Leu) c.5516C>T (p.Pro1839Leu) n.5602C>T | COSMIC |
19 | g.38486175T>A | CA067213 | RYR1 | c.5520T>A (p.Pro1840=) c.5517T>A (p.Pro1839=) n.5603T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38486175T>C | CA507353537 | RYR1 | c.5520T>C (p.Pro1840=) c.5517T>C (p.Pro1839=) n.5603T>C | dbSNP gnomAD v4 |
19 | g.38486175T>G | CA507353536 | RYR1 | c.5520T>G (p.Pro1840=) c.5517T>G (p.Pro1839=) n.5603T>G | |
19 | g.38486175T= | CA2335046447 | RYR1 | c.5520T= (p.Pro1840=) c.5517T= (p.Pro1839=) n.5603T= | |
19 | g.38486176G>A | CA405655943 | RYR1 | c.5521G>A (p.Val1841Met) c.5518G>A (p.Val1840Met) n.5604G>A | |
19 | g.38486176G>C | CA405655946 | RYR1 | c.5521G>C (p.Val1841Leu) c.5518G>C (p.Val1840Leu) n.5604G>C | |
19 | g.38486176G>T | CA405655951 | RYR1 | c.5521G>T (p.Val1841Leu) c.5518G>T (p.Val1840Leu) n.5604G>T | gnomAD v4 |
19 | g.38486177T>A | CA405655955 | RYR1 | c.5522T>A (p.Val1841Glu) c.5519T>A (p.Val1840Glu) n.5605T>A | |
19 | g.38486177T>C | CA405655958 | RYR1 | c.5522T>C (p.Val1841Ala) c.5519T>C (p.Val1840Ala) n.5605T>C | gnomAD v4 |
19 | g.38486177T>G | CA405655961 | RYR1 | c.5522T>G (p.Val1841Gly) c.5519T>G (p.Val1840Gly) n.5605T>G | |
19 | g.38486178G>A | CA507353542 | RYR1 | c.5523G>A (p.Val1841=) c.5520G>A (p.Val1840=) n.5606G>A | |
19 | g.38486178G>C | CA507353543 | RYR1 | c.5523G>C (p.Val1841=) c.5520G>C (p.Val1840=) n.5606G>C | |
19 | g.38486178G>T | CA507353544 | RYR1 | c.5523G>T (p.Val1841=) c.5520G>T (p.Val1840=) n.5606G>T | gnomAD v4 |
19 | g.38486179C>A | CA405655962 | RYR1 | c.5524C>A (p.Leu1842Ile) c.5521C>A (p.Leu1841Ile) n.5607C>A | |
19 | g.38486179C= | CA2335046448 | RYR1 | c.5524C= (p.Leu1842=) c.5521C= (p.Leu1841=) n.5607C= | |
19 | g.38486179C>G | CA405655963 | RYR1 | c.5524C>G (p.Leu1842Val) c.5521C>G (p.Leu1841Val) n.5607C>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38486179C>T | CA405655973 | RYR1 | c.5524C>T (p.Leu1842Phe) c.5521C>T (p.Leu1841Phe) n.5607C>T | |
19 | g.38486180T>A | CA405655977 | RYR1 | c.5525T>A (p.Leu1842His) c.5522T>A (p.Leu1841His) n.5608T>A | |
19 | g.38486180T>C | CA10648634 | RYR1 | c.5525T>C (p.Leu1842Pro) c.5522T>C (p.Leu1841Pro) n.5608T>C | ClinVar dbSNP |
19 | g.38486180T>G | CA405655981 | RYR1 | c.5525T>G (p.Leu1842Arg) c.5522T>G (p.Leu1841Arg) n.5608T>G | |
19 | g.38486180T= | CA2335046449 | RYR1 | c.5525T= (p.Leu1842=) c.5522T= (p.Leu1841=) n.5608T= | |
19 | g.38486181C>A | CA507353546 | RYR1 | c.5526C>A (p.Leu1842=) c.5523C>A (p.Leu1841=) n.5609C>A | gnomAD v4 |
19 | g.38486181C>G | CA507353547 | RYR1 | c.5526C>G (p.Leu1842=) c.5523C>G (p.Leu1841=) n.5609C>G | ClinVar gnomAD v4 |
19 | g.38486181C>T | CA507353549 | RYR1 | c.5526C>T (p.Leu1842=) c.5523C>T (p.Leu1841=) n.5609C>T | |
19 | g.38486182A>C | CA405655988 | RYR1 | c.5527A>C (p.Lys1843Gln) c.5524A>C (p.Lys1842Gln) n.5610A>C | |
19 | g.38486182A>G | CA405655991 | RYR1 | c.5527A>G (p.Lys1843Glu) c.5524A>G (p.Lys1842Glu) n.5610A>G | |
19 | g.38486182A>T | CA405655995 | RYR1 | c.5527A>T (p.Lys1843Ter) c.5524A>T (p.Lys1842Ter) n.5610A>T | |
19 | g.38486183A>C | CA405655999 | RYR1 | c.5528A>C (p.Lys1843Thr) c.5525A>C (p.Lys1842Thr) n.5611A>C | |
19 | g.38486183A>G | CA405656001 | RYR1 | c.5528A>G (p.Lys1843Arg) c.5525A>G (p.Lys1842Arg) n.5611A>G | |
19 | g.38486183A>T | CA405656003 | RYR1 | c.5528A>T (p.Lys1843Met) c.5525A>T (p.Lys1842Met) n.5611A>T | ClinVar |
19 | g.38486184G>A | CA507353558 | RYR1 | c.5529G>A (p.Lys1843=) c.5526G>A (p.Lys1842=) n.5612G>A | |
19 | g.38486184G>C | CA405656005 | RYR1 | c.5529G>C (p.Lys1843Asn) c.5526G>C (p.Lys1842Asn) n.5612G>C | ClinVar |
19 | g.38486184G>T | CA405656007 | RYR1 | c.5529G>T (p.Lys1843Asn) c.5526G>T (p.Lys1842Asn) n.5612G>T | ClinVar |
19 | g.38486185C>A | CA405656010 | RYR1 | c.5530C>A (p.Leu1844Ile) c.5527C>A (p.Leu1843Ile) n.5613C>A | |
19 | g.38486185C= | CA2335046450 | RYR1 | c.5530C= (p.Leu1844=) c.5527C= (p.Leu1843=) n.5613C= | |
19 | g.38486185C>G | CA405656013 | RYR1 | c.5530C>G (p.Leu1844Val) c.5527C>G (p.Leu1843Val) n.5613C>G | |
19 | g.38486185C>T | CA405656015 | RYR1 | c.5530C>T (p.Leu1844Phe) c.5527C>T (p.Leu1843Phe) n.5613C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38486186T>A | CA405656020 | RYR1 | c.5531T>A (p.Leu1844His) c.5528T>A (p.Leu1843His) n.5614T>A | dbSNP gnomAD v2 |
19 | g.38486186T>C | CA405656032 | RYR1 | c.5531T>C (p.Leu1844Pro) c.5528T>C (p.Leu1843Pro) n.5614T>C | |
19 | g.38486186T>G | CA405656017 | RYR1 | c.5531T>G (p.Leu1844Arg) c.5528T>G (p.Leu1843Arg) n.5614T>G | |
19 | g.38486186T= | CA2335046451 | RYR1 | c.5531T= (p.Leu1844=) c.5528T= (p.Leu1843=) n.5614T= | |
19 | g.38486187C>A | CA507353561 | RYR1 | c.5532C>A (p.Leu1844=) c.5529C>A (p.Leu1843=) n.5615C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38486187C= | CA2335046452 | RYR1 | c.5532C= (p.Leu1844=) c.5529C= (p.Leu1843=) n.5615C= | |
19 | g.38486187C>G | CA507353563 | RYR1 | c.5532C>G (p.Leu1844=) c.5529C>G (p.Leu1843=) n.5615C>G | |
19 | g.38486187C>T | CA067215 | RYR1 | c.5532C>T (p.Leu1844=) c.5529C>T (p.Leu1843=) n.5615C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38486188G>A | CA308094009 | RYR1 | c.5533G>A (p.Val1845Met) c.5530G>A (p.Val1844Met) n.5616G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38486188G>C | CA405656049 | RYR1 | c.5533G>C (p.Val1845Leu) c.5530G>C (p.Val1844Leu) n.5616G>C | ClinVar dbSNP |
19 | g.38486188G= | CA2335046453 | RYR1 | c.5533G= (p.Val1845=) c.5530G= (p.Val1844=) n.5616G= | |
19 | g.38486188G>T | CA405656053 | RYR1 | c.5533G>T (p.Val1845Leu) c.5530G>T (p.Val1844Leu) n.5616G>T | dbSNP |
19 | g.38486189T>A | CA405656058 | RYR1 | c.5534T>A (p.Val1845Glu) c.5531T>A (p.Val1844Glu) n.5617T>A | |
19 | g.38486189T>C | CA405656059 | RYR1 | c.5534T>C (p.Val1845Ala) c.5531T>C (p.Val1844Ala) n.5617T>C | gnomAD v4 |
19 | g.38486189T>G | CA405656060 | RYR1 | c.5534T>G (p.Val1845Gly) c.5531T>G (p.Val1844Gly) n.5617T>G | |
19 | g.38486190G>A | CA507353573 | RYR1 | c.5535G>A (p.Val1845=) c.5532G>A (p.Val1844=) n.5618G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38486190G>C | CA507353574 | RYR1 | c.5535G>C (p.Val1845=) c.5532G>C (p.Val1844=) n.5618G>C | |
19 | g.38486190G= | CA2335046454 | RYR1 | c.5535G= (p.Val1845=) c.5532G= (p.Val1844=) n.5618G= | |
19 | g.38486190G>T | CA507353576 | RYR1 | c.5535G>T (p.Val1845=) c.5532G>T (p.Val1844=) n.5618G>T | |
19 | g.38486191T>A | CA405656061 | RYR1 | c.5536T>A (p.Ser1846Thr) c.5533T>A (p.Ser1845Thr) n.5619T>A | |
19 | g.38486191T>C | CA405656063 | RYR1 | c.5536T>C (p.Ser1846Pro) c.5533T>C (p.Ser1845Pro) n.5619T>C | |
19 | g.38486191T>G | CA405656066 | RYR1 | c.5536T>G (p.Ser1846Ala) c.5533T>G (p.Ser1845Ala) n.5619T>G | |
19 | g.38486192C>A | CA405656070 | RYR1 | c.5537C>A (p.Ser1846Tyr) c.5534C>A (p.Ser1845Tyr) n.5620C>A | |
19 | g.38486192C= | CA2335046455 | RYR1 | c.5537C= (p.Ser1846=) c.5534C= (p.Ser1845=) n.5620C= | |
19 | g.38486192C>G | CA405656072 | RYR1 | c.5537C>G (p.Ser1846Cys) c.5534C>G (p.Ser1845Cys) n.5620C>G | |
19 | g.38486192C>T | CA405656074 | RYR1 | c.5537C>T (p.Ser1846Phe) c.5534C>T (p.Ser1845Phe) n.5620C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38486192_38486193del | CA2584898026 | RYR1 | c.5537_5538del (p.Ser1846TyrfsTer11) c.5534_5535del (p.Ser1845TyrfsTer11) n.5620_5621del | gnomAD v4 |
19 | g.38486193C>A | CA507353584 | RYR1 | c.5538C>A (p.Ser1846=) c.5535C>A (p.Ser1845=) n.5621C>A | |
19 | g.38486193C>G | CA507353585 | RYR1 | c.5538C>G (p.Ser1846=) c.5535C>G (p.Ser1845=) n.5621C>G | |
19 | g.38486193C>T | CA507353586 | RYR1 | c.5538C>T (p.Ser1846=) c.5535C>T (p.Ser1845=) n.5621C>T | |
19 | g.38486194A>C | CA405656080 | RYR1 | c.5539A>C (p.Thr1847Pro) c.5536A>C (p.Thr1846Pro) n.5622A>C | |
19 | g.38486194A>G | CA405656083 | RYR1 | c.5539A>G (p.Thr1847Ala) c.5536A>G (p.Thr1846Ala) n.5622A>G | gnomAD v4 COSMIC |
19 | g.38486194A>T | CA405656077 | RYR1 | c.5539A>T (p.Thr1847Ser) c.5536A>T (p.Thr1846Ser) n.5622A>T | |
19 | g.38486194_38486195insATGG | CA2584898027 | RYR1 | c.5539_5540insATGG (p.Thr1847AsnfsTer12) c.5536_5537insATGG (p.Thr1846AsnfsTer12) n.5622_5623insATGG | gnomAD v4 |
19 | g.38486195C>A | CA405656087 | RYR1 | c.5540C>A (p.Thr1847Asn) c.5537C>A (p.Thr1846Asn) n.5623C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38486195C= | CA2335046456 | RYR1 | c.5540C= (p.Thr1847=) c.5537C= (p.Thr1846=) n.5623C= | |
19 | g.38486195C>G | CA405656091 | RYR1 | c.5540C>G (p.Thr1847Ser) c.5537C>G (p.Thr1846Ser) n.5623C>G | |
19 | g.38486195C>T | CA405656094 | RYR1 | c.5540C>T (p.Thr1847Ile) c.5537C>T (p.Thr1846Ile) n.5623C>T | |
19 | g.38486195_38486196insT | CA2584898028 | RYR1 | c.5540_5541insT (p.Leu1848ProfsTer10) c.5537_5538insT (p.Leu1847ProfsTer10) n.5623_5624insT | gnomAD v4 |
19 | g.38486196C>A | CA507353591 | RYR1 | c.5541C>A (p.Thr1847=) c.5538C>A (p.Thr1846=) n.5624C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38486196C= | CA2335046457 | RYR1 | c.5541C= (p.Thr1847=) c.5538C= (p.Thr1846=) n.5624C= | |
19 | g.38486196C>G | CA507353592 | RYR1 | c.5541C>G (p.Thr1847=) c.5538C>G (p.Thr1846=) n.5624C>G | |
19 | g.38486196C>T | CA507353593 | RYR1 | c.5541C>T (p.Thr1847=) c.5538C>T (p.Thr1846=) n.5624C>T | gnomAD v4 COSMIC |
19 | g.38486197C>A | CA405656097 | RYR1 | c.5542C>A (p.Leu1848Met) c.5539C>A (p.Leu1847Met) n.5625C>A | |
19 | g.38486197C= | CA2335046458 | RYR1 | c.5542C= (p.Leu1848=) c.5539C= (p.Leu1847=) n.5625C= | |
19 | g.38486197C>G | CA405656101 | RYR1 | c.5542C>G (p.Leu1848Val) c.5539C>G (p.Leu1847Val) n.5625C>G | gnomAD v4 |
19 | g.38486197C>T | CA507353594 | RYR1 | c.5542C>T (p.Leu1848=) c.5539C>T (p.Leu1847=) n.5625C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38486198T>A | CA405656112 | RYR1 | c.5543T>A (p.Leu1848Gln) c.5540T>A (p.Leu1847Gln) n.5626T>A | |
19 | g.38486198T>C | CA405656106 | RYR1 | c.5543T>C (p.Leu1848Pro) c.5540T>C (p.Leu1847Pro) n.5626T>C | |
19 | g.38486198T>G | CA405656110 | RYR1 | c.5543T>G (p.Leu1848Arg) c.5540T>G (p.Leu1847Arg) n.5626T>G | |
19 | g.38486199G>A | CA507353596 | RYR1 | c.5544G>A (p.Leu1848=) c.5541G>A (p.Leu1847=) n.5627G>A | |
19 | g.38486199G>C | CA507353597 | RYR1 | c.5544G>C (p.Leu1848=) c.5541G>C (p.Leu1847=) n.5627G>C | |
19 | g.38486199G>T | CA507353600 | RYR1 | c.5544G>T (p.Leu1848=) c.5541G>T (p.Leu1847=) n.5627G>T | |
19 | g.38486200C>A | CA405656115 | RYR1 | c.5545C>A (p.Leu1849Met) c.5542C>A (p.Leu1848Met) n.5628C>A | |
19 | g.38486200C>G | CA405656119 | RYR1 | c.5545C>G (p.Leu1849Val) c.5542C>G (p.Leu1848Val) n.5628C>G | gnomAD v4 |
19 | g.38486200C>T | CA507353602 | RYR1 | c.5545C>T (p.Leu1849=) c.5542C>T (p.Leu1848=) n.5628C>T | ClinVar COSMIC |
19 | g.38486201T>A | CA405656125 | RYR1 | c.5546T>A (p.Leu1849Gln) c.5543T>A (p.Leu1848Gln) n.5629T>A | |
19 | g.38486201T>C | CA405656128 | RYR1 | c.5546T>C (p.Leu1849Pro) c.5543T>C (p.Leu1848Pro) n.5629T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38486201T>G | CA405656131 | RYR1 | c.5546T>G (p.Leu1849Arg) c.5543T>G (p.Leu1848Arg) n.5629T>G | |
19 | g.38486201T= | CA2335046459 | RYR1 | c.5546T= (p.Leu1849=) c.5543T= (p.Leu1848=) n.5629T= | |
19 | g.38486202G>A | CA507353603 | RYR1 | c.5547G>A (p.Leu1849=) c.5544G>A (p.Leu1848=) n.5630G>A | |
19 | g.38486202G>C | CA507353604 | RYR1 | c.5547G>C (p.Leu1849=) c.5544G>C (p.Leu1848=) n.5630G>C | |
19 | g.38486202G>T | CA507353605 | RYR1 | c.5547G>T (p.Leu1849=) c.5544G>T (p.Leu1848=) n.5630G>T | |
19 | g.38486203G>A | CA405656150 | RYR1 | c.5547+1G>A (n.5547+1G>A) c.5544+1G>A (n.5544+1G>A) n.5630+1G>A | |
19 | g.38486203G>C | CA405656142 | RYR1 | c.5547+1G>C (n.5547+1G>C) c.5544+1G>C (n.5544+1G>C) n.5630+1G>C | |
19 | g.38486203G= | CA2335046460 | RYR1 | c.5547+1G= (n.5547+1G=) c.5544+1G= (n.5544+1G=) n.5630+1G= | |
19 | g.38486203G>T | CA405656140 | RYR1 | c.5547+1G>T (n.5547+1G>T) c.5544+1G>T (n.5544+1G>T) n.5630+1G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38486204T>A | CA405656152 | RYR1 | c.5547+2T>A (n.5547+2T>A) c.5544+2T>A (n.5544+2T>A) n.5630+2T>A | |
19 | g.38486204T>C | CA405656155 | RYR1 | c.5547+2T>C (n.5547+2T>C) c.5544+2T>C (n.5544+2T>C) n.5630+2T>C | |
19 | g.38486204T>G | CA405656158 | RYR1 | c.5547+2T>G (n.5547+2T>G) c.5544+2T>G (n.5544+2T>G) n.5630+2T>G | |
19 | g.38486209G>C | CA308094016 | RYR1 | c.5547+7G>C (n.5547+7G>C) c.5544+7G>C (n.5544+7G>C) n.5630+7G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38486209G= | CA2335046461 | RYR1 | c.5547+7G= (n.5547+7G=) c.5544+7G= (n.5544+7G=) n.5630+7G= | |
19 | g.38486209G>T | CA2499225467 | RYR1 | c.5547+7G>T (n.5547+7G>T) c.5544+7G>T (n.5544+7G>T) n.5630+7G>T | ClinVar dbSNP |
19 | g.38486212T>C | CA633066082 | RYR1 | c.5547+10T>C (n.5547+10T>C) c.5544+10T>C (n.5544+10T>C) n.5630+10T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38486212T= | CA2335046462 | RYR1 | c.5547+10T= (n.5547+10T=) c.5544+10T= (n.5544+10T=) n.5630+10T= | |
19 | g.38486213C>A | CA2584898029 | RYR1 | c.5547+11C>A (n.5547+11C>A) c.5544+11C>A (n.5544+11C>A) n.5630+11C>A | gnomAD v4 |
19 | g.38486213C= | CA2335046463 | RYR1 | c.5547+11C= (n.5547+11C=) c.5544+11C= (n.5544+11C=) n.5630+11C= | |
19 | g.38486213C>T | CA067219 | RYR1 | c.5547+11C>T (n.5547+11C>T) c.5544+11C>T (n.5544+11C>T) n.5630+11C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38486214C>A | CA2584898030 | RYR1 | c.5547+12C>A (n.5547+12C>A) c.5544+12C>A (n.5544+12C>A) n.5630+12C>A | gnomAD v4 |
19 | g.38486214C= | CA2335046464 | RYR1 | c.5547+12C= (n.5547+12C=) c.5544+12C= (n.5544+12C=) n.5630+12C= | |
19 | g.38486214C>T | CA308094040 | RYR1 | c.5547+12C>T (n.5547+12C>T) c.5544+12C>T (n.5544+12C>T) n.5630+12C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38486215T>C | CA2741631262 | RYR1 | c.5547+13T>C (n.5547+13T>C) c.5544+13T>C (n.5544+13T>C) n.5630+13T>C | |
19 | g.38486216C= | CA2335046465 | RYR1 | c.5547+14C= (n.5547+14C=) c.5544+14C= (n.5544+14C=) n.5630+14C= | |
19 | g.38486216C>T | CA633066083 | RYR1 | c.5547+14C>T (n.5547+14C>T) c.5544+14C>T (n.5544+14C>T) n.5630+14C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38486217C= | CA2335046466 | RYR1 | c.5547+15C= (n.5547+15C=) c.5544+15C= (n.5544+15C=) n.5630+15C= | |
19 | g.38486217C>T | CA308094052 | RYR1 | c.5547+15C>T (n.5547+15C>T) c.5544+15C>T (n.5544+15C>T) n.5630+15C>T | dbSNP |
19 | g.38486218T>C | CA2335046468 | RYR1 | c.5547+16T>C (n.5547+16T>C) c.5544+16T>C (n.5544+16T>C) n.5630+16T>C | dbSNP |
19 | g.38486218T= | CA2335046467 | RYR1 | c.5547+16T= (n.5547+16T=) c.5544+16T= (n.5544+16T=) n.5630+16T= | |
19 | g.38486219G>A | CA882054383 | RYR1 | c.5547+17G>A (n.5547+17G>A) c.5544+17G>A (n.5544+17G>A) n.5630+17G>A | dbSNP |
19 | g.38486219G>C | CA067222 | RYR1 | c.5547+17G>C (n.5547+17G>C) c.5544+17G>C (n.5544+17G>C) n.5630+17G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38486219G= | CA2335046469 | RYR1 | c.5547+17G= (n.5547+17G=) c.5544+17G= (n.5544+17G=) n.5630+17G= | |
19 | g.38486219G>T | CA882054384 | RYR1 | c.5547+17G>T (n.5547+17G>T) c.5544+17G>T (n.5544+17G>T) n.5630+17G>T | dbSNP |
19 | g.38486221T>G | CA995729211 | RYR1 | c.5547+19T>G (n.5547+19T>G) c.5544+19T>G (n.5544+19T>G) n.5630+19T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38486221T= | CA2335046470 | RYR1 | c.5547+19T= (n.5547+19T=) c.5544+19T= (n.5544+19T=) n.5630+19T= | |
19 | g.38486224C>A | CA2584898031 | RYR1 | c.5547+22C>A (n.5547+22C>A) c.5544+22C>A (n.5544+22C>A) n.5630+22C>A | gnomAD v4 |
19 | g.38486224C= | CA2335046471 | RYR1 | c.5547+22C= (n.5547+22C=) c.5544+22C= (n.5544+22C=) n.5630+22C= | |
19 | g.38486224C>G | CA2584898032 | RYR1 | c.5547+22C>G (n.5547+22C>G) c.5544+22C>G (n.5544+22C>G) n.5630+22C>G | gnomAD v4 |
19 | g.38486224C>T | CA067223 | RYR1 | c.5547+22C>T (n.5547+22C>T) c.5544+22C>T (n.5544+22C>T) n.5630+22C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38486225C= | CA2335046472 | RYR1 | c.5547+23C= (n.5547+23C=) c.5544+23C= (n.5544+23C=) n.5630+23C= | |
19 | g.38486225C>T | CA067227 | RYR1 | c.5547+23C>T (n.5547+23C>T) c.5544+23C>T (n.5544+23C>T) n.5630+23C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38486227C>A | CA2584898033 | RYR1 | c.5547+25C>A (n.5547+25C>A) c.5544+25C>A (n.5544+25C>A) n.5630+25C>A | gnomAD v4 |
19 | g.38486227C>G | CA2584898034 | RYR1 | c.5547+25C>G (n.5547+25C>G) c.5544+25C>G (n.5544+25C>G) n.5630+25C>G | gnomAD v4 |
19 | g.38486232C>G | CA2584898035 | RYR1 | c.5547+30C>G (n.5547+30C>G) c.5544+30C>G (n.5544+30C>G) n.5630+30C>G | gnomAD v4 |
19 | g.38486233C= | CA2335046473 | RYR1 | c.5547+31C= (n.5547+31C=) c.5544+31C= (n.5544+31C=) n.5630+31C= | |
19 | g.38486233C>G | CA2335046474 | RYR1 | c.5547+31C>G (n.5547+31C>G) c.5544+31C>G (n.5544+31C>G) n.5630+31C>G | dbSNP |
19 | g.38486233C>T | CA067231 | RYR1 | c.5547+31C>T (n.5547+31C>T) c.5544+31C>T (n.5544+31C>T) n.5630+31C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38486234A= | CA2335046476 | RYR1 | c.5547+32A= (n.5547+32A=) c.5544+32A= (n.5544+32A=) n.5630+32A= | |
19 | g.38486234A>C | CA2335046475 | RYR1 | c.5547+32A>C (n.5547+32A>C) c.5544+32A>C (n.5544+32A>C) n.5630+32A>C | dbSNP |
19 | g.38486234A>G | CA308094079 | RYR1 | c.5547+32A>G (n.5547+32A>G) c.5544+32A>G (n.5544+32A>G) n.5630+32A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38486237C>A | CA633066084 | RYR1 | c.5547+35C>A (n.5547+35C>A) c.5544+35C>A (n.5544+35C>A) n.5630+35C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38486237C= | CA2335046477 | RYR1 | c.5547+35C= (n.5547+35C=) c.5544+35C= (n.5544+35C=) n.5630+35C= | |
19 | g.38486237C>T | CA067234 | RYR1 | c.5547+35C>T (n.5547+35C>T) c.5544+35C>T (n.5544+35C>T) n.5630+35C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38486240C= | CA2335046478 | RYR1 | c.5547+38C= (n.5547+38C=) c.5544+38C= (n.5544+38C=) n.5630+38C= | |
19 | g.38486240C>T | CA882054388 | RYR1 | c.5547+38C>T (n.5547+38C>T) c.5544+38C>T (n.5544+38C>T) n.5630+38C>T | dbSNP gnomAD v4 |
19 | g.38486242C= | CA2335046479 | RYR1 | c.5547+40C= (n.5547+40C=) c.5544+40C= (n.5544+40C=) n.5630+40C= | |
19 | g.38486242C>G | CA633066085 | RYR1 | c.5547+40C>G (n.5547+40C>G) c.5544+40C>G (n.5544+40C>G) n.5630+40C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38486242C>T | CA995729266 | RYR1 | c.5547+40C>T (n.5547+40C>T) c.5544+40C>T (n.5544+40C>T) n.5630+40C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38486244C>A | CA2584898036 | RYR1 | c.5547+42C>A (n.5547+42C>A) c.5544+42C>A (n.5544+42C>A) n.5630+42C>A | gnomAD v4 |
19 | g.38486245A= | CA2335046480 | RYR1 | c.5547+43A= (n.5547+43A=) c.5544+43A= (n.5544+43A=) n.5630+43A= | |
19 | g.38486245A>G | CA633066086 | RYR1 | c.5547+43A>G (n.5547+43A>G) c.5544+43A>G (n.5544+43A>G) n.5630+43A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38486247A= | CA2335046481 | RYR1 | c.5547+45A= (n.5547+45A=) c.5544+45A= (n.5544+45A=) n.5630+45A= | |
19 | g.38486247A>G | CA633066087 | RYR1 | c.5547+45A>G (n.5547+45A>G) c.5544+45A>G (n.5544+45A>G) n.5630+45A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38486250C= | CA2335046482 | RYR1 | c.5547+48C= (n.5547+48C=) c.5544+48C= (n.5544+48C=) n.5630+48C= | |
19 | g.38486250C>T | CA067236 | RYR1 | c.5547+48C>T (n.5547+48C>T) c.5544+48C>T (n.5544+48C>T) n.5630+48C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38486251C>A | CA2584898037 | RYR1 | c.5547+49C>A (n.5547+49C>A) c.5544+49C>A (n.5544+49C>A) n.5630+49C>A | gnomAD v4 |
19 | g.38486251C= | CA2335046483 | RYR1 | c.5547+49C= (n.5547+49C=) c.5544+49C= (n.5544+49C=) n.5630+49C= | |
19 | g.38486251C>G | CA2584898038 | RYR1 | c.5547+49C>G (n.5547+49C>G) c.5544+49C>G (n.5544+49C>G) n.5630+49C>G | gnomAD v4 |
19 | g.38486251C>T | CA633066088 | RYR1 | c.5547+49C>T (n.5547+49C>T) c.5544+49C>T (n.5544+49C>T) n.5630+49C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38486252C= | CA2335046484 | RYR1 | c.5547+50C= (n.5547+50C=) c.5544+50C= (n.5544+50C=) n.5630+50C= | |
19 | g.38486252C>T | CA2335046485 | RYR1 | c.5547+50C>T (n.5547+50C>T) c.5544+50C>T (n.5544+50C>T) n.5630+50C>T | dbSNP |
19 | g.38486253A= | CA2335046486 | RYR1 | c.5547+51A= (n.5547+51A=) c.5544+51A= (n.5544+51A=) n.5630+51A= | |
19 | g.38486253A>C | CA995729274 | RYR1 | c.5547+51A>C (n.5547+51A>C) c.5544+51A>C (n.5544+51A>C) n.5630+51A>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38486253A>G | CA633066089 | RYR1 | c.5547+51A>G (n.5547+51A>G) c.5544+51A>G (n.5544+51A>G) n.5630+51A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38486254A>G | CA2584898039 | RYR1 | c.5547+52A>G (n.5547+52A>G) c.5544+52A>G (n.5544+52A>G) n.5630+52A>G | gnomAD v4 |