Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38499633A>C | CA405667762 | RYR1 | c.7028-2A>C (n.7028-2A>C) c.7025-2A>C (n.7025-2A>C) c.480-2A>C n.7111-2A>C | |
19 | g.38499633A>G | CA405667763 | RYR1 | c.7028-2A>G (n.7028-2A>G) c.7025-2A>G (n.7025-2A>G) c.480-2A>G n.7111-2A>G | |
19 | g.38499633A>T | CA405667764 | RYR1 | c.7028-2A>T (n.7028-2A>T) c.7025-2A>T (n.7025-2A>T) c.480-2A>T n.7111-2A>T | |
19 | g.38499634G>A | CA405667765 | RYR1 | c.7028-1G>A (n.7028-1G>A) c.7025-1G>A (n.7025-1G>A) c.480-1G>A n.7111-1G>A | |
19 | g.38499634G>C | CA405667766 | RYR1 | c.7028-1G>C (n.7028-1G>C) c.7025-1G>C (n.7025-1G>C) c.480-1G>C n.7111-1G>C | |
19 | g.38499634G>T | CA405667767 | RYR1 | c.7028-1G>T (n.7028-1G>T) c.7025-1G>T (n.7025-1G>T) c.480-1G>T n.7111-1G>T | gnomAD v4 |
19 | g.38499635G>A | CA405667768 | RYR1 | c.7028G>A (p.Gly2343Asp) c.7025G>A (p.Gly2342Asp) c.480G>A n.7111G>A | |
19 | g.38499635G>C | CA405667769 | RYR1 | c.7028G>C (p.Gly2343Ala) c.7025G>C (p.Gly2342Ala) c.480G>C n.7111G>C | |
19 | g.38499635G>T | CA405667770 | RYR1 | c.7028G>T (p.Gly2343Val) c.7025G>T (p.Gly2342Val) c.480G>T n.7111G>T | gnomAD v4 |
19 | g.38499636C>A | CA507353763 | RYR1 | c.7029C>A (p.Gly2343=) c.7026C>A (p.Gly2342=) c.481C>A n.7112C>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499636C= | CA2335052840 | RYR1 | c.7029C= (p.Gly2343=) c.7026C= (p.Gly2342=) c.481C= n.7112C= | |
19 | g.38499636C>G | CA507353764 | RYR1 | c.7029C>G (p.Gly2343=) c.7026C>G (p.Gly2342=) c.481C>G n.7112C>G | |
19 | g.38499636C>T | CA069044 | RYR1 | c.7029C>T (p.Gly2343=) c.7026C>T (p.Gly2342=) c.481C>T n.7112C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499637G>A | CA082296 | RYR1 | c.7030G>A (p.Glu2344Lys) c.7027G>A (p.Glu2343Lys) c.482G>A n.7113G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499637G>C | CA405667772 | RYR1 | c.7030G>C (p.Glu2344Gln) c.7027G>C (p.Glu2343Gln) c.482G>C n.7113G>C | |
19 | g.38499637G= | CA2335052841 | RYR1 | c.7030G= (p.Glu2344=) c.7027G= (p.Glu2343=) c.482G= n.7113G= | |
19 | g.38499637G>T | CA405667771 | RYR1 | c.7030G>T (p.Glu2344Ter) c.7027G>T (p.Glu2343Ter) c.482G>T n.7113G>T | gnomAD v4 |
19 | g.38499637_38499639dup | CA2814346132 | RYR1 | c.7030_7032dup (p.Glu2344_Ser2345insGlu) c.7027_7029dup (p.Glu2343_Ser2344insGlu) c.482_484dup n.7113_7115dup | |
19 | g.38499638A>C | CA405667773 | RYR1 | c.7031A>C (p.Glu2344Ala) c.7028A>C (p.Glu2343Ala) c.483A>C n.7114A>C | |
19 | g.38499638A>G | CA405667774 | RYR1 | c.7031A>G (p.Glu2344Gly) c.7028A>G (p.Glu2343Gly) c.483A>G n.7114A>G | |
19 | g.38499638A>T | CA405667775 | RYR1 | c.7031A>T (p.Glu2344Val) c.7028A>T (p.Glu2343Val) c.483A>T n.7114A>T | |
19 | g.38499639G>A | CA507353771 | RYR1 | c.7032G>A (p.Glu2344=) c.7029G>A (p.Glu2343=) c.484G>A n.7115G>A | |
19 | g.38499639G>C | CA024673 | RYR1 | c.7032G>C (p.Glu2344Asp) c.7029G>C (p.Glu2343Asp) c.484G>C n.7115G>C | ClinVar dbSNP |
19 | g.38499639G= | CA2335052842 | RYR1 | c.7032G= (p.Glu2344=) c.7029G= (p.Glu2343=) c.484G= n.7115G= | |
19 | g.38499639G>T | CA405667776 | RYR1 | c.7032G>T (p.Glu2344Asp) c.7029G>T (p.Glu2343Asp) c.484G>T n.7115G>T | gnomAD v4 |
19 | g.38499640A= | CA2335052843 | RYR1 | c.7033A= (p.Ser2345=) c.7030A= (p.Ser2344=) c.485A= n.7116A= | |
19 | g.38499640A>C | CA405667777 | RYR1 | c.7033A>C (p.Ser2345Arg) c.7030A>C (p.Ser2344Arg) c.485A>C n.7116A>C | COSMIC |
19 | g.38499640A>G | CA405667778 | RYR1 | c.7033A>G (p.Ser2345Gly) c.7030A>G (p.Ser2344Gly) c.485A>G n.7116A>G | gnomAD v4 |
19 | g.38499640A>T | CA069047 | RYR1 | c.7033A>T (p.Ser2345Cys) c.7030A>T (p.Ser2344Cys) c.485A>T n.7116A>T | dbSNP ExAC gnomAD v4 |
19 | g.38499641G>A | CA069051 | RYR1 | c.7034G>A (p.Ser2345Asn) c.7031G>A (p.Ser2344Asn) c.486G>A n.7117G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.38499641G>C | CA405667779 | RYR1 | c.7034G>C (p.Ser2345Thr) c.7031G>C (p.Ser2344Thr) c.486G>C n.7117G>C | ClinVar |
19 | g.38499641G= | CA2335052844 | RYR1 | c.7034G= (p.Ser2345=) c.7031G= (p.Ser2344=) c.486G= n.7117G= | |
19 | g.38499641G>T | CA405667780 | RYR1 | c.7034G>T (p.Ser2345Ile) c.7031G>T (p.Ser2344Ile) c.486G>T n.7117G>T | |
19 | g.38499642C>A | CA405667782 | RYR1 | c.7035C>A (p.Ser2345Arg) c.7032C>A (p.Ser2344Arg) c.487C>A n.7118C>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499642C= | CA2335052845 | RYR1 | c.7035C= (p.Ser2345=) c.7032C= (p.Ser2344=) c.487C= n.7118C= | |
19 | g.38499642C>G | CA405667781 | RYR1 | c.7035C>G (p.Ser2345Arg) c.7032C>G (p.Ser2344Arg) c.487C>G n.7118C>G | ClinVar dbSNP |
19 | g.38499642C>T | CA507353778 | RYR1 | c.7035C>T (p.Ser2345=) c.7032C>T (p.Ser2344=) c.487C>T n.7118C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499643G>A | CA024676 | RYR1 | c.7036G>A (p.Val2346Met) c.7033G>A (p.Val2345Met) c.488G>A n.7119G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499643G>C | CA405667783 | RYR1 | c.7036G>C (p.Val2346Leu) c.7033G>C (p.Val2345Leu) c.488G>C n.7119G>C | |
19 | g.38499643G= | CA2335052846 | RYR1 | c.7036G= (p.Val2346=) c.7033G= (p.Val2345=) c.488G= n.7119G= | |
19 | g.38499643G>T | CA405667784 | RYR1 | c.7036G>T (p.Val2346Leu) c.7033G>T (p.Val2345Leu) c.488G>T n.7119G>T | |
19 | g.38499644T>A | CA405667785 | RYR1 | c.7037T>A (p.Val2346Glu) c.7034T>A (p.Val2345Glu) c.489T>A n.7120T>A | |
19 | g.38499644T>C | CA405667786 | RYR1 | c.7037T>C (p.Val2346Ala) c.7034T>C (p.Val2345Ala) c.489T>C n.7120T>C | |
19 | g.38499644T>G | CA405667787 | RYR1 | c.7037T>G (p.Val2346Gly) c.7034T>G (p.Val2345Gly) c.489T>G n.7120T>G | |
19 | g.38499644_38499647delinsTGGA | CA2335052847 | RYR1 | c.7037_7040delinsTGGA (p.Val2346=) c.7034_7037delinsTGGA (p.Val2345=) c.489_492delinsTGGA n.7120_7123delinsTGGA | |
19 | g.38499645G>A | CA082294 | RYR1 | c.7038G>A (p.Val2346=) c.7035G>A (p.Val2345=) c.490G>A n.7121G>A | gnomAD v4 |
19 | g.38499645G>C | CA507353787 | RYR1 | c.7038G>C (p.Val2346=) c.7035G>C (p.Val2345=) c.490G>C n.7121G>C | |
19 | g.38499645G>T | CA507353788 | RYR1 | c.7038G>T (p.Val2346=) c.7035G>T (p.Val2345=) c.490G>T n.7121G>T | gnomAD v4 |
19 | g.38499649_38499651del | CA024679 | RYR1 | c.7042_7044del (p.Glu2348del) c.7039_7041del (p.Glu2347del) c.494_496del n.7125_7127del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499646G>A | CA069061 | RYR1 | c.7039G>A (p.Glu2347Lys) c.7036G>A (p.Glu2346Lys) c.491G>A n.7122G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499646G>C | CA405667788 | RYR1 | c.7039G>C (p.Glu2347Gln) c.7036G>C (p.Glu2346Gln) c.491G>C n.7122G>C | |
19 | g.38499646G= | CA2335052848 | RYR1 | c.7039G= (p.Glu2347=) c.7036G= (p.Glu2346=) c.491G= n.7122G= | |
19 | g.38499646G>T | CA082295 | RYR1 | c.7039G>T (p.Glu2347Ter) c.7036G>T (p.Glu2346Ter) c.491G>T n.7122G>T | gnomAD v4 |
19 | g.38499647A= | CA2335052849 | RYR1 | c.7040A= (p.Glu2347=) c.7037A= (p.Glu2346=) c.492A= n.7123A= | |
19 | g.38499647A>C | CA069066 | RYR1 | c.7040A>C (p.Glu2347Ala) c.7037A>C (p.Glu2346Ala) c.492A>C n.7123A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499647A>G | CA405667789 | RYR1 | c.7040A>G (p.Glu2347Gly) c.7037A>G (p.Glu2346Gly) c.492A>G n.7123A>G | |
19 | g.38499647A>T | CA405667790 | RYR1 | c.7040A>T (p.Glu2347Val) c.7037A>T (p.Glu2346Val) c.492A>T n.7123A>T | |
19 | g.38499648G>A | CA507353795 | RYR1 | c.7041G>A (p.Glu2347=) c.7038G>A (p.Glu2346=) c.493G>A n.7124G>A | |
19 | g.38499648G>C | CA405667791 | RYR1 | c.7041G>C (p.Glu2347Asp) c.7038G>C (p.Glu2346Asp) c.493G>C n.7124G>C | |
19 | g.38499648G>T | CA405667792 | RYR1 | c.7041G>T (p.Glu2347Asp) c.7038G>T (p.Glu2346Asp) c.493G>T n.7124G>T | gnomAD v4 |
19 | g.38499649G>A | CA082310 | RYR1 | c.7042G>A (p.Glu2348Lys) c.7039G>A (p.Glu2347Lys) c.494G>A n.7125G>A | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.38499649G>C | CA405667794 | RYR1 | c.7042G>C (p.Glu2348Gln) c.7039G>C (p.Glu2347Gln) c.494G>C n.7125G>C | |
19 | g.38499649G= | CA2335052850 | RYR1 | c.7042G= (p.Glu2348=) c.7039G= (p.Glu2347=) c.494G= n.7125G= | |
19 | g.38499649G>T | CA405667793 | RYR1 | c.7042G>T (p.Glu2348Ter) c.7039G>T (p.Glu2347Ter) c.494G>T n.7125G>T | gnomAD v4 |
19 | g.38499650A= | CA2335052851 | RYR1 | c.7043A= (p.Glu2348=) c.7040A= (p.Glu2347=) c.495A= n.7126A= | |
19 | g.38499650A>C | CA082311 | RYR1 | c.7043A>C (p.Glu2348Ala) c.7040A>C (p.Glu2347Ala) c.495A>C n.7126A>C | |
19 | g.38499650A>G | CA024686 | RYR1 | c.7043A>G (p.Glu2348Gly) c.7040A>G (p.Glu2347Gly) c.495A>G n.7126A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499650A>T | CA405667795 | RYR1 | c.7043A>T (p.Glu2348Val) c.7040A>T (p.Glu2347Val) c.495A>T n.7126A>T | |
19 | g.38499651G>A | CA507353799 | RYR1 | c.7044G>A (p.Glu2348=) c.7041G>A (p.Glu2347=) c.496G>A n.7127G>A | gnomAD v4 |
19 | g.38499651G>C | CA405667796 | RYR1 | c.7044G>C (p.Glu2348Asp) c.7041G>C (p.Glu2347Asp) c.496G>C n.7127G>C | |
19 | g.38499651G= | CA2335052852 | RYR1 | c.7044G= (p.Glu2348=) c.7041G= (p.Glu2347=) c.496G= n.7127G= | |
19 | g.38499651G>T | CA405667797 | RYR1 | c.7044G>T (p.Glu2348Asp) c.7041G>T (p.Glu2347Asp) c.496G>T n.7127G>T | dbSNP gnomAD v4 |
19 | g.38499652A= | CA2335052853 | RYR1 | c.7045A= (p.Asn2349=) c.7042A= (p.Asn2348=) c.497A= n.7128A= | |
19 | g.38499652A>C | CA405667799 | RYR1 | c.7045A>C (p.Asn2349His) c.7042A>C (p.Asn2348His) c.497A>C n.7128A>C | dbSNP |
19 | g.38499652A>G | CA405667801 | RYR1 | c.7045A>G (p.Asn2349Asp) c.7042A>G (p.Asn2348Asp) c.497A>G n.7128A>G | COSMIC |
19 | g.38499652A>T | CA069069 | RYR1 | c.7045A>T (p.Asn2349Tyr) c.7042A>T (p.Asn2348Tyr) c.497A>T n.7128A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499653A>C | CA405667805 | RYR1 | c.7046A>C (p.Asn2349Thr) c.7043A>C (p.Asn2348Thr) c.498A>C n.7129A>C | |
19 | g.38499653A>G | CA405667807 | RYR1 | c.7046A>G (p.Asn2349Ser) c.7043A>G (p.Asn2348Ser) c.498A>G n.7129A>G | |
19 | g.38499653A>T | CA405667809 | RYR1 | c.7046A>T (p.Asn2349Ile) c.7043A>T (p.Asn2348Ile) c.498A>T n.7129A>T | |
19 | g.38499654C>A | CA405667813 | RYR1 | c.7047C>A (p.Asn2349Lys) c.7044C>A (p.Asn2348Lys) c.499C>A n.7130C>A | |
19 | g.38499654C= | CA2335052854 | RYR1 | c.7047C= (p.Asn2349=) c.7044C= (p.Asn2348=) c.499C= n.7130C= | |
19 | g.38499654C>G | CA405667815 | RYR1 | c.7047C>G (p.Asn2349Lys) c.7044C>G (p.Asn2348Lys) c.499C>G n.7130C>G | |
19 | g.38499654C>T | CA069073 | RYR1 | c.7047C>T (p.Asn2349=) c.7044C>T (p.Asn2348=) c.499C>T n.7130C>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.38499655G>A | CA024690 | RYR1 | c.7048G>A (p.Ala2350Thr) c.7045G>A (p.Ala2349Thr) c.500G>A n.7131G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499655G>C | CA405667817 | RYR1 | c.7048G>C (p.Ala2350Pro) c.7045G>C (p.Ala2349Pro) c.500G>C n.7131G>C | |
19 | g.38499655G= | CA2335052855 | RYR1 | c.7048G= (p.Ala2350=) c.7045G= (p.Ala2349=) c.500G= n.7131G= | |
19 | g.38499655G>T | CA405667818 | RYR1 | c.7048G>T (p.Ala2350Ser) c.7045G>T (p.Ala2349Ser) c.500G>T n.7131G>T | gnomAD v4 |
19 | g.38499656C>A | CA405667822 | RYR1 | c.7049C>A (p.Ala2350Asp) c.7046C>A (p.Ala2349Asp) c.501C>A n.7132C>A | |
19 | g.38499656C>G | CA405667825 | RYR1 | c.7049C>G (p.Ala2350Gly) c.7046C>G (p.Ala2349Gly) c.501C>G n.7132C>G | COSMIC |
19 | g.38499656C>T | CA405667826 | RYR1 | c.7049C>T (p.Ala2350Val) c.7046C>T (p.Ala2349Val) c.501C>T n.7132C>T | gnomAD v4 |
19 | g.38499657C>A | CA507353813 | RYR1 | c.7050C>A (p.Ala2350=) c.7047C>A (p.Ala2349=) c.502C>A n.7133C>A | |
19 | g.38499657C>G | CA507353814 | RYR1 | c.7050C>G (p.Ala2350=) c.7047C>G (p.Ala2349=) c.502C>G n.7133C>G | |
19 | g.38499657C>T | CA082313 | RYR1 | c.7050C>T (p.Ala2350=) c.7047C>T (p.Ala2349=) c.502C>T n.7133C>T | gnomAD v4 |
19 | g.38499658A= | CA2335052856 | RYR1 | c.7051A= (p.Asn2351=) c.7048A= (p.Asn2350=) c.503A= n.7134A= | |
19 | g.38499658A>C | CA069074 | RYR1 | c.7051A>C (p.Asn2351His) c.7048A>C (p.Asn2350His) c.503A>C n.7134A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499658A>G | CA405667830 | RYR1 | c.7051A>G (p.Asn2351Asp) c.7048A>G (p.Asn2350Asp) c.503A>G n.7134A>G | dbSNP gnomAD v4 |
19 | g.38499658A>T | CA405667829 | RYR1 | c.7051A>T (p.Asn2351Tyr) c.7048A>T (p.Asn2350Tyr) c.503A>T n.7134A>T | |
19 | g.38499659A= | CA2335052857 | RYR1 | c.7052A= (p.Asn2351=) c.7049A= (p.Asn2350=) c.504A= n.7135A= | |
19 | g.38499659A>C | CA405667831 | RYR1 | c.7052A>C (p.Asn2351Thr) c.7049A>C (p.Asn2350Thr) c.504A>C n.7135A>C | |
19 | g.38499659A>G | CA069078 | RYR1 | c.7052A>G (p.Asn2351Ser) c.7049A>G (p.Asn2350Ser) c.504A>G n.7135A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499659A>T | CA405667832 | RYR1 | c.7052A>T (p.Asn2351Ile) c.7049A>T (p.Asn2350Ile) c.504A>T n.7135A>T | |
19 | g.38499660T>A | CA405667833 | RYR1 | c.7053T>A (p.Asn2351Lys) c.7050T>A (p.Asn2350Lys) c.505T>A n.7136T>A | |
19 | g.38499660T>C | CA069079 | RYR1 | c.7053T>C (p.Asn2351=) c.7050T>C (p.Asn2350=) c.505T>C n.7136T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499660T>G | CA405667836 | RYR1 | c.7053T>G (p.Asn2351Lys) c.7050T>G (p.Asn2350Lys) c.505T>G n.7136T>G | |
19 | g.38499660T= | CA2335052858 | RYR1 | c.7053T= (p.Asn2351=) c.7050T= (p.Asn2350=) c.505T= n.7136T= | |
19 | g.38499661G>A | CA405667843 | RYR1 | c.7054G>A (p.Val2352Met) c.7051G>A (p.Val2351Met) c.506G>A n.7137G>A | gnomAD v4 |
19 | g.38499661G>C | CA405667839 | RYR1 | c.7054G>C (p.Val2352Leu) c.7051G>C (p.Val2351Leu) c.506G>C n.7137G>C | |
19 | g.38499661G= | CA2335052859 | RYR1 | c.7054G= (p.Val2352=) c.7051G= (p.Val2351=) c.506G= n.7137G= | |
19 | g.38499661G>T | CA405667841 | RYR1 | c.7054G>T (p.Val2352Leu) c.7051G>T (p.Val2351Leu) c.506G>T n.7137G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38499667_38499669del | CA2695228665 | RYR1 | c.7060_7062del (p.Val2354del) c.7057_7059del (p.Val2353del) c.512_514del n.7143_7145del | |
19 | g.38499662T>A | CA405667845 | RYR1 | c.7055T>A (p.Val2352Glu) c.7052T>A (p.Val2351Glu) c.507T>A n.7138T>A | gnomAD v4 |
19 | g.38499662T>C | CA405667848 | RYR1 | c.7055T>C (p.Val2352Ala) c.7052T>C (p.Val2351Ala) c.507T>C n.7138T>C | |
19 | g.38499662T>G | CA405667850 | RYR1 | c.7055T>G (p.Val2352Gly) c.7052T>G (p.Val2351Gly) c.507T>G n.7138T>G | |
19 | g.38499663G>A | CA507353818 | RYR1 | c.7056G>A (p.Val2352=) c.7053G>A (p.Val2351=) c.508G>A n.7139G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499663G>C | CA507353820 | RYR1 | c.7056G>C (p.Val2352=) c.7053G>C (p.Val2351=) c.508G>C n.7139G>C | |
19 | g.38499663G= | CA2335052860 | RYR1 | c.7056G= (p.Val2352=) c.7053G= (p.Val2351=) c.508G= n.7139G= | |
19 | g.38499663G>T | CA507353821 | RYR1 | c.7056G>T (p.Val2352=) c.7053G>T (p.Val2351=) c.508G>T n.7139G>T | gnomAD v4 |
19 | g.38499663_38499664insTA | CA082287 | RYR1 | c.7056_7057insTA (p.Val2353Ter) c.7053_7054insTA (p.Val2352Ter) c.508_509insTA n.7139_7140insTA | |
19 | g.38499664G>A | CA069083 | RYR1 | c.7057G>A (p.Val2353Met) c.7054G>A (p.Val2352Met) c.509G>A n.7140G>A | dbSNP ExAC gnomAD v2 |
19 | g.38499664G>C | CA405667854 | RYR1 | c.7057G>C (p.Val2353Leu) c.7054G>C (p.Val2352Leu) c.509G>C n.7140G>C | |
19 | g.38499664G= | CA2335052861 | RYR1 | c.7057G= (p.Val2353=) c.7054G= (p.Val2352=) c.509G= n.7140G= | |
19 | g.38499664G>T | CA405667856 | RYR1 | c.7057G>T (p.Val2353Leu) c.7054G>T (p.Val2352Leu) c.509G>T n.7140G>T | gnomAD v4 |
19 | g.38499665T>A | CA405667858 | RYR1 | c.7058T>A (p.Val2353Glu) c.7055T>A (p.Val2352Glu) c.510T>A n.7141T>A | |
19 | g.38499665T>C | CA405667859 | RYR1 | c.7058T>C (p.Val2353Ala) c.7055T>C (p.Val2352Ala) c.510T>C n.7141T>C | dbSNP gnomAD v4 |
19 | g.38499665T>G | CA405667862 | RYR1 | c.7058T>G (p.Val2353Gly) c.7055T>G (p.Val2352Gly) c.510T>G n.7141T>G | |
19 | g.38499666G>A | CA507353825 | RYR1 | c.7059G>A (p.Val2353=) c.7056G>A (p.Val2352=) c.511G>A n.7142G>A | gnomAD v4 |
19 | g.38499666G>C | CA507353826 | RYR1 | c.7059G>C (p.Val2353=) c.7056G>C (p.Val2352=) c.511G>C n.7142G>C | |
19 | g.38499666G= | CA2335052862 | RYR1 | c.7059G= (p.Val2353=) c.7056G= (p.Val2352=) c.511G= n.7142G= | |
19 | g.38499666G>T | CA069089 | RYR1 | c.7059G>T (p.Val2353=) c.7056G>T (p.Val2352=) c.511G>T n.7142G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499667G>A | CA082317 | RYR1 | c.7060G>A (p.Val2354Met) c.7057G>A (p.Val2353Met) c.512G>A n.7143G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499667G>C | CA405667878 | RYR1 | c.7060G>C (p.Val2354Leu) c.7057G>C (p.Val2353Leu) c.512G>C n.7143G>C | gnomAD v4 |
19 | g.38499667G= | CA2335052863 | RYR1 | c.7060G= (p.Val2354=) c.7057G= (p.Val2353=) c.512G= n.7143G= | |
19 | g.38499667G>T | CA069094 | RYR1 | c.7060G>T (p.Val2354Leu) c.7057G>T (p.Val2353Leu) c.512G>T n.7143G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499668T>A | CA405667886 | RYR1 | c.7061T>A (p.Val2354Glu) c.7058T>A (p.Val2353Glu) c.513T>A n.7144T>A | |
19 | g.38499668T>C | CA405667882 | RYR1 | c.7061T>C (p.Val2354Ala) c.7058T>C (p.Val2353Ala) c.513T>C n.7144T>C | |
19 | g.38499668T>G | CA405667884 | RYR1 | c.7061T>G (p.Val2354Gly) c.7058T>G (p.Val2353Gly) c.513T>G n.7144T>G | |
19 | g.38499669G>A | CA507353827 | RYR1 | c.7062G>A (p.Val2354=) c.7059G>A (p.Val2353=) c.514G>A n.7145G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499669G>C | CA507353828 | RYR1 | c.7062G>C (p.Val2354=) c.7059G>C (p.Val2353=) c.514G>C n.7145G>C | |
19 | g.38499669G= | CA2335052864 | RYR1 | c.7062G= (p.Val2354=) c.7059G= (p.Val2353=) c.514G= n.7145G= | |
19 | g.38499669G>T | CA082318 | RYR1 | c.7062G>T (p.Val2354=) c.7059G>T (p.Val2353=) c.514G>T n.7145G>T | gnomAD v4 |
19 | g.38499670C>A | CA507353829 | RYR1 | c.7063C>A (p.Arg2355=) c.7060C>A (p.Arg2354=) c.515C>A n.7146C>A | gnomAD v4 |
19 | g.38499670C= | CA2335052865 | RYR1 | c.7063C= (p.Arg2355=) c.7060C= (p.Arg2354=) c.515C= n.7146C= | |
19 | g.38499670C>G | CA405667890 | RYR1 | c.7063C>G (p.Arg2355Gly) c.7060C>G (p.Arg2354Gly) c.515C>G n.7146C>G | |
19 | g.38499670C>T | CA024693 | RYR1 | c.7063C>T (p.Arg2355Trp) c.7060C>T (p.Arg2354Trp) c.515C>T n.7146C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499671G>A | CA069098 | RYR1 | c.7064G>A (p.Arg2355Gln) c.7061G>A (p.Arg2354Gln) c.516G>A n.7147G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499671G>C | CA405667896 | RYR1 | c.7064G>C (p.Arg2355Pro) c.7061G>C (p.Arg2354Pro) c.516G>C n.7147G>C | gnomAD v4 |
19 | g.38499671G= | CA2335052866 | RYR1 | c.7064G= (p.Arg2355=) c.7061G= (p.Arg2354=) c.516G= n.7147G= | |
19 | g.38499671G>T | CA405667897 | RYR1 | c.7064G>T (p.Arg2355Leu) c.7061G>T (p.Arg2354Leu) c.516G>T n.7147G>T | gnomAD v4 |
19 | g.38499672G>A | CA507353830 | RYR1 | c.7065G>A (p.Arg2355=) c.7062G>A (p.Arg2354=) c.517G>A n.7148G>A | gnomAD v4 |
19 | g.38499672G>C | CA507353831 | RYR1 | c.7065G>C (p.Arg2355=) c.7062G>C (p.Arg2354=) c.517G>C n.7148G>C | |
19 | g.38499672G>T | CA507353832 | RYR1 | c.7065G>T (p.Arg2355=) c.7062G>T (p.Arg2354=) c.517G>T n.7148G>T | gnomAD v4 |
19 | g.38499673C>A | CA405667898 | RYR1 | c.7066C>A (p.Leu2356Met) c.7063C>A (p.Leu2355Met) c.518C>A n.7149C>A | gnomAD v4 |
19 | g.38499673C>G | CA405667899 | RYR1 | c.7066C>G (p.Leu2356Val) c.7063C>G (p.Leu2355Val) c.518C>G n.7149C>G | |
19 | g.38499673C>T | CA082320 | RYR1 | c.7066C>T (p.Leu2356=) c.7063C>T (p.Leu2355=) c.518C>T n.7149C>T | gnomAD v4 |
19 | g.38499674T>A | CA405667902 | RYR1 | c.7067T>A (p.Leu2356Gln) c.7064T>A (p.Leu2355Gln) c.519T>A n.7150T>A | |
19 | g.38499674T>C | CA405667904 | RYR1 | c.7067T>C (p.Leu2356Pro) c.7064T>C (p.Leu2355Pro) c.519T>C n.7150T>C | |
19 | g.38499674T>G | CA405667906 | RYR1 | c.7067T>G (p.Leu2356Arg) c.7064T>G (p.Leu2355Arg) c.519T>G n.7150T>G | |
19 | g.38499675G>A | CA507353833 | RYR1 | c.7068G>A (p.Leu2356=) c.7065G>A (p.Leu2355=) c.520G>A n.7151G>A | gnomAD v4 |
19 | g.38499675G>C | CA507353834 | RYR1 | c.7068G>C (p.Leu2356=) c.7065G>C (p.Leu2355=) c.520G>C n.7151G>C | gnomAD v4 |
19 | g.38499675G>T | CA507353835 | RYR1 | c.7068G>T (p.Leu2356=) c.7065G>T (p.Leu2355=) c.520G>T n.7151G>T | gnomAD v4 |
19 | g.38499676C>A | CA405667907 | RYR1 | c.7069C>A (p.Leu2357Ile) c.7066C>A (p.Leu2356Ile) c.521C>A n.7152C>A | |
19 | g.38499676C>G | CA405667908 | RYR1 | c.7069C>G (p.Leu2357Val) c.7066C>G (p.Leu2356Val) c.521C>G n.7152C>G | |
19 | g.38499676C>T | CA405667909 | RYR1 | c.7069C>T (p.Leu2357Phe) c.7066C>T (p.Leu2356Phe) c.521C>T n.7152C>T | gnomAD v4 |
19 | g.38499677T>A | CA405667915 | RYR1 | c.7070T>A (p.Leu2357His) c.7067T>A (p.Leu2356His) c.522T>A n.7153T>A | |
19 | g.38499677T>C | CA405667914 | RYR1 | c.7070T>C (p.Leu2357Pro) c.7067T>C (p.Leu2356Pro) c.522T>C n.7153T>C | |
19 | g.38499677T>G | CA405667910 | RYR1 | c.7070T>G (p.Leu2357Arg) c.7067T>G (p.Leu2356Arg) c.522T>G n.7153T>G | |
19 | g.38499678C>A | CA507353836 | RYR1 | c.7071C>A (p.Leu2357=) c.7068C>A (p.Leu2356=) c.523C>A n.7154C>A | gnomAD v4 |
19 | g.38499678C= | CA2335052867 | RYR1 | c.7071C= (p.Leu2357=) c.7068C= (p.Leu2356=) c.523C= n.7154C= | |
19 | g.38499678C>G | CA507353838 | RYR1 | c.7071C>G (p.Leu2357=) c.7068C>G (p.Leu2356=) c.523C>G n.7154C>G | |
19 | g.38499678C>T | CA507353837 | RYR1 | c.7071C>T (p.Leu2357=) c.7068C>T (p.Leu2356=) c.523C>T n.7154C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499679A= | CA2335052868 | RYR1 | c.7072A= (p.Ile2358=) c.7069A= (p.Ile2357=) c.524A= n.7155A= | |
19 | g.38499679A>C | CA069102 | RYR1 | c.7072A>C (p.Ile2358Leu) c.7069A>C (p.Ile2357Leu) c.524A>C n.7155A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499679A>G | CA405667921 | RYR1 | c.7072A>G (p.Ile2358Val) c.7069A>G (p.Ile2357Val) c.524A>G n.7155A>G | |
19 | g.38499679A>T | CA405667922 | RYR1 | c.7072A>T (p.Ile2358Phe) c.7069A>T (p.Ile2357Phe) c.524A>T n.7155A>T | dbSNP |
19 | g.38499680T>A | CA405667924 | RYR1 | c.7073T>A (p.Ile2358Asn) c.7070T>A (p.Ile2357Asn) c.525T>A n.7156T>A | ClinVar dbSNP |
19 | g.38499680T>C | CA405667926 | RYR1 | c.7073T>C (p.Ile2358Thr) c.7070T>C (p.Ile2357Thr) c.525T>C n.7156T>C | |
19 | g.38499680T>G | CA405667940 | RYR1 | c.7073T>G (p.Ile2358Ser) c.7070T>G (p.Ile2357Ser) c.525T>G n.7156T>G | |
19 | g.38499680T= | CA2335052869 | RYR1 | c.7073T= (p.Ile2358=) c.7070T= (p.Ile2357=) c.525T= n.7156T= | |
19 | g.38499681C>A | CA507353839 | RYR1 | c.7074C>A (p.Ile2358=) c.7071C>A (p.Ile2357=) c.526C>A n.7157C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499681C= | CA2335052870 | RYR1 | c.7074C= (p.Ile2358=) c.7071C= (p.Ile2357=) c.526C= n.7157C= | |
19 | g.38499681C>G | CA405667943 | RYR1 | c.7074C>G (p.Ile2358Met) c.7071C>G (p.Ile2357Met) c.526C>G n.7157C>G | |
19 | g.38499681C>T | CA507353840 | RYR1 | c.7074C>T (p.Ile2358=) c.7071C>T (p.Ile2357=) c.526C>T n.7157C>T | gnomAD v4 |
19 | g.38499682C>A | CA507353841 | RYR1 | c.7075C>A (p.Arg2359=) c.7072C>A (p.Arg2358=) c.527C>A n.7158C>A | gnomAD v4 |
19 | g.38499682C= | CA2335052871 | RYR1 | c.7075C= (p.Arg2359=) c.7072C= (p.Arg2358=) c.527C= n.7158C= | |
19 | g.38499682C>G | CA405667946 | RYR1 | c.7075C>G (p.Arg2359Gly) c.7072C>G (p.Arg2358Gly) c.527C>G n.7158C>G | |
19 | g.38499682C>T | CA069103 | RYR1 | c.7075C>T (p.Arg2359Trp) c.7072C>T (p.Arg2358Trp) c.527C>T n.7158C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499683G>A | CA405667952 | RYR1 | c.7076G>A (p.Arg2359Gln) c.7073G>A (p.Arg2358Gln) c.528G>A n.7159G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499683G>C | CA405667953 | RYR1 | c.7076G>C (p.Arg2359Pro) c.7073G>C (p.Arg2358Pro) c.528G>C n.7159G>C | |
19 | g.38499683G= | CA2335052872 | RYR1 | c.7076G= (p.Arg2359=) c.7073G= (p.Arg2358=) c.528G= n.7159G= | |
19 | g.38499683G>T | CA405667955 | RYR1 | c.7076G>T (p.Arg2359Leu) c.7073G>T (p.Arg2358Leu) c.528G>T n.7159G>T | gnomAD v4 COSMIC |
19 | g.38499684G>A | CA507353842 | RYR1 | c.7077G>A (p.Arg2359=) c.7074G>A (p.Arg2358=) c.529G>A n.7160G>A | gnomAD v4 |
19 | g.38499684G>C | CA507353843 | RYR1 | c.7077G>C (p.Arg2359=) c.7074G>C (p.Arg2358=) c.529G>C n.7160G>C | |
19 | g.38499684G= | CA2335052873 | RYR1 | c.7077G= (p.Arg2359=) c.7074G= (p.Arg2358=) c.529G= n.7160G= | |
19 | g.38499684G>T | CA069107 | RYR1 | c.7077G>T (p.Arg2359=) c.7074G>T (p.Arg2358=) c.529G>T n.7160G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499685A>C | CA405667965 | RYR1 | c.7078A>C (p.Lys2360Gln) c.7075A>C (p.Lys2359Gln) c.530A>C n.7161A>C | |
19 | g.38499685A>G | CA405667964 | RYR1 | c.7078A>G (p.Lys2360Glu) c.7075A>G (p.Lys2359Glu) c.530A>G n.7161A>G | |
19 | g.38499685A>T | CA405667962 | RYR1 | c.7078A>T (p.Lys2360Ter) c.7075A>T (p.Lys2359Ter) c.530A>T n.7161A>T | |
19 | g.38499686A>C | CA405667969 | RYR1 | c.7079A>C (p.Lys2360Thr) c.7076A>C (p.Lys2359Thr) c.531A>C n.7162A>C | |
19 | g.38499686A>G | CA405667970 | RYR1 | c.7079A>G (p.Lys2360Arg) c.7076A>G (p.Lys2359Arg) c.531A>G n.7162A>G | |
19 | g.38499686A>T | CA405667971 | RYR1 | c.7079A>T (p.Lys2360Met) c.7076A>T (p.Lys2359Met) c.531A>T n.7162A>T | |
19 | g.38499687G>A | CA507353844 | RYR1 | c.7080G>A (p.Lys2360=) c.7077G>A (p.Lys2359=) c.532G>A n.7163G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499687G>C | CA405667972 | RYR1 | c.7080G>C (p.Lys2360Asn) c.7077G>C (p.Lys2359Asn) c.532G>C n.7163G>C | |
19 | g.38499687G= | CA2335052874 | RYR1 | c.7080G= (p.Lys2360=) c.7077G= (p.Lys2359=) c.532G= n.7163G= | |
19 | g.38499687G>T | CA082324 | RYR1 | c.7080G>T (p.Lys2360Asn) c.7077G>T (p.Lys2359Asn) c.532G>T n.7163G>T | gnomAD v4 |
19 | g.38499687dup | CA2695228666 | RYR1 | c.7080dup (p.Pro2361AlafsTer2) c.7077dup (p.Pro2360AlafsTer2) c.532dup n.7163dup | |
19 | g.38499688C>A | CA405667973 | RYR1 | c.7081C>A (p.Pro2361Thr) c.7078C>A (p.Pro2360Thr) c.533C>A n.7164C>A | gnomAD v4 |
19 | g.38499688C>G | CA405667974 | RYR1 | c.7081C>G (p.Pro2361Ala) c.7078C>G (p.Pro2360Ala) c.533C>G n.7164C>G | |
19 | g.38499688C>T | CA405667977 | RYR1 | c.7081C>T (p.Pro2361Ser) c.7078C>T (p.Pro2360Ser) c.533C>T n.7164C>T | gnomAD v4 |
19 | g.38499689C>A | CA405667979 | RYR1 | c.7082C>A (p.Pro2361His) c.7079C>A (p.Pro2360His) c.534C>A n.7165C>A | gnomAD v4 |
19 | g.38499689C= | CA2335052875 | RYR1 | c.7082C= (p.Pro2361=) c.7079C= (p.Pro2360=) c.534C= n.7165C= | |
19 | g.38499689C>G | CA405667980 | RYR1 | c.7082C>G (p.Pro2361Arg) c.7079C>G (p.Pro2360Arg) c.534C>G n.7165C>G | ClinVar dbSNP |
19 | g.38499689C>T | CA405667982 | RYR1 | c.7082C>T (p.Pro2361Leu) c.7079C>T (p.Pro2360Leu) c.534C>T n.7165C>T | |
19 | g.38499690T>A | CA507353845 | RYR1 | c.7083T>A (p.Pro2361=) c.7080T>A (p.Pro2360=) c.535T>A n.7166T>A | gnomAD v4 |
19 | g.38499690T>C | CA507353847 | RYR1 | c.7083T>C (p.Pro2361=) c.7080T>C (p.Pro2360=) c.535T>C n.7166T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499690T>G | CA507353846 | RYR1 | c.7083T>G (p.Pro2361=) c.7080T>G (p.Pro2360=) c.535T>G n.7166T>G | |
19 | g.38499690T= | CA2335052876 | RYR1 | c.7083T= (p.Pro2361=) c.7080T= (p.Pro2360=) c.535T= n.7166T= | |
19 | g.38499691G>A | CA069115 | RYR1 | c.7084G>A (p.Glu2362Lys) c.7081G>A (p.Glu2361Lys) c.536G>A n.7167G>A | ClinVar dbSNP ExAC |
19 | g.38499691G>C | CA405667985 | RYR1 | c.7084G>C (p.Glu2362Gln) c.7081G>C (p.Glu2361Gln) c.536G>C n.7167G>C | |
19 | g.38499691G= | CA2335052877 | RYR1 | c.7084G= (p.Glu2362=) c.7081G= (p.Glu2361=) c.536G= n.7167G= | |
19 | g.38499691G>T | CA405667987 | RYR1 | c.7084G>T (p.Glu2362Ter) c.7081G>T (p.Glu2361Ter) c.536G>T n.7167G>T | gnomAD v4 |
19 | g.38499692A= | CA2335052878 | RYR1 | c.7085A= (p.Glu2362=) c.7082A= (p.Glu2361=) c.537A= n.7168A= | |
19 | g.38499692A>C | CA405667991 | RYR1 | c.7085A>C (p.Glu2362Ala) c.7082A>C (p.Glu2361Ala) c.537A>C n.7168A>C | |
19 | g.38499692A>G | CA024696 | RYR1 | c.7085A>G (p.Glu2362Gly) c.7082A>G (p.Glu2361Gly) c.537A>G n.7168A>G | ClinVar dbSNP |
19 | g.38499692A>T | CA405667989 | RYR1 | c.7085A>T (p.Glu2362Val) c.7082A>T (p.Glu2361Val) c.537A>T n.7168A>T | gnomAD v4 |
19 | g.38499693G>A | CA507353848 | RYR1 | c.7086G>A (p.Glu2362=) c.7083G>A (p.Glu2361=) c.538G>A n.7169G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499693G>C | CA405667994 | RYR1 | c.7086G>C (p.Glu2362Asp) c.7083G>C (p.Glu2361Asp) c.538G>C n.7169G>C | |
19 | g.38499693G= | CA2335052879 | RYR1 | c.7086G= (p.Glu2362=) c.7083G= (p.Glu2361=) c.538G= n.7169G= | |
19 | g.38499693G>T | CA405667997 | RYR1 | c.7086G>T (p.Glu2362Asp) c.7083G>T (p.Glu2361Asp) c.538G>T n.7169G>T | |
19 | g.38499694T>A | CA405668000 | RYR1 | c.7087T>A (p.Cys2363Ser) c.7084T>A (p.Cys2362Ser) c.539T>A n.7170T>A | |
19 | g.38499694T>C | CA308109461 | RYR1 | c.7087T>C (p.Cys2363Arg) c.7084T>C (p.Cys2362Arg) c.539T>C n.7170T>C | dbSNP gnomAD v4 |
19 | g.38499694T>G | CA405668003 | RYR1 | c.7087T>G (p.Cys2363Gly) c.7084T>G (p.Cys2362Gly) c.539T>G n.7170T>G | |
19 | g.38499694T= | CA2335052880 | RYR1 | c.7087T= (p.Cys2363=) c.7084T= (p.Cys2362=) c.539T= n.7170T= | |
19 | g.38499695G>A | CA405668004 | RYR1 | c.7088G>A (p.Cys2363Tyr) c.7085G>A (p.Cys2362Tyr) c.540G>A n.7171G>A | |
19 | g.38499695G>C | CA405668005 | RYR1 | c.7088G>C (p.Cys2363Ser) c.7085G>C (p.Cys2362Ser) c.540G>C n.7171G>C | |
19 | g.38499695G>T | CA405668006 | RYR1 | c.7088G>T (p.Cys2363Phe) c.7085G>T (p.Cys2362Phe) c.540G>T n.7171G>T | gnomAD v4 |
19 | g.38499696del | CA995715518 | RYR1 | c.7089del (p.Phe2364SerfsTer?) c.7086del (p.Phe2363SerfsTer?) c.541del n.7172del | gnomAD v3 gnomAD v4 |
19 | g.38499696C>A | CA405668008 | RYR1 | c.7089C>A (p.Cys2363Ter) c.7086C>A (p.Cys2362Ter) c.541C>A n.7172C>A | gnomAD v4 |
19 | g.38499696C= | CA2335052881 | RYR1 | c.7089C= (p.Cys2363=) c.7086C= (p.Cys2362=) c.541C= n.7172C= | |
19 | g.38499696C>G | CA405668010 | RYR1 | c.7089C>G (p.Cys2363Trp) c.7086C>G (p.Cys2362Trp) c.541C>G n.7172C>G | ClinVar dbSNP |
19 | g.38499696C>T | CA024700 | RYR1 | c.7089C>T (p.Cys2363=) c.7086C>T (p.Cys2362=) c.541C>T n.7172C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499697T>A | CA405668012 | RYR1 | c.7090T>A (p.Phe2364Ile) c.7087T>A (p.Phe2363Ile) c.542T>A n.7173T>A | |
19 | g.38499697T>C | CA405668014 | RYR1 | c.7090T>C (p.Phe2364Leu) c.7087T>C (p.Phe2363Leu) c.542T>C n.7173T>C | gnomAD v4 |
19 | g.38499697T>G | CA024702 | RYR1 | c.7090T>G (p.Phe2364Val) c.7087T>G (p.Phe2363Val) c.542T>G n.7173T>G | ClinVar dbSNP gnomAD v4 |
19 | g.38499697T= | CA2335052882 | RYR1 | c.7090T= (p.Phe2364=) c.7087T= (p.Phe2363=) c.542T= n.7173T= | |
19 | g.38499697_38499698insAGATC | CA995715519 | RYR1 | c.7090_7091insAGATC (p.Phe2364Ter) c.7087_7088insAGATC (p.Phe2363Ter) c.542_543insAGATC n.7173_7174insAGATC | gnomAD v3 gnomAD v4 |
19 | g.38499698T>A | CA405668024 | RYR1 | c.7091T>A (p.Phe2364Tyr) c.7088T>A (p.Phe2363Tyr) c.543T>A n.7174T>A | |
19 | g.38499698T>C | CA405668025 | RYR1 | c.7091T>C (p.Phe2364Ser) c.7088T>C (p.Phe2363Ser) c.543T>C n.7174T>C | |
19 | g.38499698T>G | CA405668021 | RYR1 | c.7091T>G (p.Phe2364Cys) c.7088T>G (p.Phe2363Cys) c.543T>G n.7174T>G | |
19 | g.38499699C>A | CA405668028 | RYR1 | c.7092C>A (p.Phe2364Leu) c.7089C>A (p.Phe2363Leu) c.544C>A n.7175C>A | gnomAD v4 |
19 | g.38499699C= | CA2335052883 | RYR1 | c.7092C= (p.Phe2364=) c.7089C= (p.Phe2363=) c.544C= n.7175C= | |
19 | g.38499699C>G | CA405668029 | RYR1 | c.7092C>G (p.Phe2364Leu) c.7089C>G (p.Phe2363Leu) c.544C>G n.7175C>G | |
19 | g.38499699C>T | CA069122 | RYR1 | c.7092C>T (p.Phe2364=) c.7089C>T (p.Phe2363=) c.544C>T n.7175C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499702_38499714del | CA2576771077 | RYR1 | c.7095_7107del (p.Pro2366ValfsTer?) c.7092_7104del (p.Pro2365ValfsTer?) c.547_559del n.7178_7190del | |
19 | g.38499700G>A | CA069126 | RYR1 | c.7093G>A (p.Gly2365Arg) c.7090G>A (p.Gly2364Arg) c.545G>A n.7176G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499700G>C | CA405668030 | RYR1 | c.7093G>C (p.Gly2365Arg) c.7090G>C (p.Gly2364Arg) c.545G>C n.7176G>C | dbSNP |
19 | g.38499700G= | CA2335052884 | RYR1 | c.7093G= (p.Gly2365=) c.7090G= (p.Gly2364=) c.545G= n.7176G= | |
19 | g.38499700G>T | CA405668033 | RYR1 | c.7093G>T (p.Gly2365Ter) c.7090G>T (p.Gly2364Ter) c.545G>T n.7176G>T | dbSNP gnomAD v4 |
19 | g.38499701G>A | CA405668034 | RYR1 | c.7094G>A (p.Gly2365Glu) c.7091G>A (p.Gly2364Glu) c.546G>A n.7177G>A | |
19 | g.38499701G>C | CA405668035 | RYR1 | c.7094G>C (p.Gly2365Ala) c.7091G>C (p.Gly2364Ala) c.546G>C n.7177G>C | |
19 | g.38499701G>T | CA405668036 | RYR1 | c.7094G>T (p.Gly2365Val) c.7091G>T (p.Gly2364Val) c.546G>T n.7177G>T | gnomAD v4 |
19 | g.38499702A= | CA2335052885 | RYR1 | c.7095A= (p.Gly2365=) c.7092A= (p.Gly2364=) c.547A= n.7178A= | |
19 | g.38499702A>C | CA507353849 | RYR1 | c.7095A>C (p.Gly2365=) c.7092A>C (p.Gly2364=) c.547A>C n.7178A>C | dbSNP |
19 | g.38499702A>G | CA507353850 | RYR1 | c.7095A>G (p.Gly2365=) c.7092A>G (p.Gly2364=) c.547A>G n.7178A>G | |
19 | g.38499702A>T | CA507353851 | RYR1 | c.7095A>T (p.Gly2365=) c.7092A>T (p.Gly2364=) c.547A>T n.7178A>T | |
19 | g.38499702_38499709del | CA2584900036 | RYR1 | c.7095_7102del (p.Pro2366AlafsTer3) c.7092_7099del (p.Pro2365AlafsTer3) c.547_554del n.7178_7185del | gnomAD v4 |
19 | g.38499703C>A | CA405668037 | RYR1 | c.7096C>A (p.Pro2366Thr) c.7093C>A (p.Pro2365Thr) c.548C>A n.7179C>A | gnomAD v4 |
19 | g.38499703C>G | CA405668038 | RYR1 | c.7096C>G (p.Pro2366Ala) c.7093C>G (p.Pro2365Ala) c.548C>G n.7179C>G | |
19 | g.38499703C>T | CA405668039 | RYR1 | c.7096C>T (p.Pro2366Ser) c.7093C>T (p.Pro2365Ser) c.548C>T n.7179C>T | gnomAD v4 |
19 | g.38499704C>A | CA405668042 | RYR1 | c.7097C>A (p.Pro2366His) c.7094C>A (p.Pro2365His) c.549C>A n.7180C>A | gnomAD v4 |
19 | g.38499704C= | CA2335052886 | RYR1 | c.7097C= (p.Pro2366=) c.7094C= (p.Pro2365=) c.549C= n.7180C= | |
19 | g.38499704C>G | CA024705 | RYR1 | c.7097C>G (p.Pro2366Arg) c.7094C>G (p.Pro2365Arg) c.549C>G n.7180C>G | ClinVar dbSNP |
19 | g.38499704C>T | CA405668041 | RYR1 | c.7097C>T (p.Pro2366Leu) c.7094C>T (p.Pro2365Leu) c.549C>T n.7180C>T | |
19 | g.38499705C>A | CA069130 | RYR1 | c.7098C>A (p.Pro2366=) c.7095C>A (p.Pro2365=) c.550C>A n.7181C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499705C= | CA2335052887 | RYR1 | c.7098C= (p.Pro2366=) c.7095C= (p.Pro2365=) c.550C= n.7181C= | |
19 | g.38499705C>G | CA507353852 | RYR1 | c.7098C>G (p.Pro2366=) c.7095C>G (p.Pro2365=) c.550C>G n.7181C>G | |
19 | g.38499705C>T | CA024708 | RYR1 | c.7098C>T (p.Pro2366=) c.7095C>T (p.Pro2365=) c.550C>T n.7181C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499706del | CA2838201304 | RYR1 | c.7099del (p.Ala2367ProfsTer?) c.7096del (p.Ala2366ProfsTer?) c.551del n.7182del | |
19 | g.38499706G>A | CA024711 | RYR1 | c.7099G>A (p.Ala2367Thr) c.7096G>A (p.Ala2366Thr) c.551G>A n.7182G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499706G>C | CA405668043 | RYR1 | c.7099G>C (p.Ala2367Pro) c.7096G>C (p.Ala2366Pro) c.551G>C n.7182G>C | |
19 | g.38499706G= | CA2335052888 | RYR1 | c.7099G= (p.Ala2367=) c.7096G= (p.Ala2366=) c.551G= n.7182G= | |
19 | g.38499706G>T | CA308109524 | RYR1 | c.7099G>T (p.Ala2367Ser) c.7096G>T (p.Ala2366Ser) c.551G>T n.7182G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499707C>A | CA405668048 | RYR1 | c.7100C>A (p.Ala2367Asp) c.7097C>A (p.Ala2366Asp) c.552C>A n.7183C>A | |
19 | g.38499707C= | CA2335052889 | RYR1 | c.7100C= (p.Ala2367=) c.7097C= (p.Ala2366=) c.552C= n.7183C= | |
19 | g.38499707C>G | CA405668049 | RYR1 | c.7100C>G (p.Ala2367Gly) c.7097C>G (p.Ala2366Gly) c.552C>G n.7183C>G | |
19 | g.38499707C>T | CA069143 | RYR1 | c.7100C>T (p.Ala2367Val) c.7097C>T (p.Ala2366Val) c.552C>T n.7183C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499708C>A | CA082328 | RYR1 | c.7101C>A (p.Ala2367=) c.7098C>A (p.Ala2366=) c.553C>A n.7184C>A | |
19 | g.38499708C= | CA2335052890 | RYR1 | c.7101C= (p.Ala2367=) c.7098C= (p.Ala2366=) c.553C= n.7184C= | |
19 | g.38499708C>G | CA507353853 | RYR1 | c.7101C>G (p.Ala2367=) c.7098C>G (p.Ala2366=) c.553C>G n.7184C>G | |
19 | g.38499708C>T | CA082329 | RYR1 | c.7101C>T (p.Ala2367=) c.7098C>T (p.Ala2366=) c.553C>T n.7184C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499709C>A | CA405668055 | RYR1 | c.7102C>A (p.Leu2368Met) c.7099C>A (p.Leu2367Met) c.554C>A n.7185C>A | gnomAD v4 |
19 | g.38499709C= | CA2335052891 | RYR1 | c.7102C= (p.Leu2368=) c.7099C= (p.Leu2367=) c.554C= n.7185C= | |
19 | g.38499709C>G | CA069148 | RYR1 | c.7102C>G (p.Leu2368Val) c.7099C>G (p.Leu2367Val) c.554C>G n.7185C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499709C>T | CA024715 | RYR1 | c.7102C>T (p.Leu2368=) c.7099C>T (p.Leu2367=) c.554C>T n.7185C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499710T>A | CA405668067 | RYR1 | c.7103T>A (p.Leu2368Gln) c.7100T>A (p.Leu2367Gln) c.555T>A n.7186T>A | |
19 | g.38499710T>C | CA405668074 | RYR1 | c.7103T>C (p.Leu2368Pro) c.7100T>C (p.Leu2367Pro) c.555T>C n.7186T>C | dbSNP |
19 | g.38499710T>G | CA405668073 | RYR1 | c.7103T>G (p.Leu2368Arg) c.7100T>G (p.Leu2367Arg) c.555T>G n.7186T>G | |
19 | g.38499710T= | CA2335052892 | RYR1 | c.7103T= (p.Leu2368=) c.7100T= (p.Leu2367=) c.555T= n.7186T= | |
19 | g.38499711G>A | CA507353854 | RYR1 | c.7104G>A (p.Leu2368=) c.7101G>A (p.Leu2367=) c.556G>A n.7187G>A | gnomAD v4 |
19 | g.38499711G>C | CA507353855 | RYR1 | c.7104G>C (p.Leu2368=) c.7101G>C (p.Leu2367=) c.556G>C n.7187G>C | |
19 | g.38499711G>T | CA507353856 | RYR1 | c.7104G>T (p.Leu2368=) c.7101G>T (p.Leu2367=) c.556G>T n.7187G>T | gnomAD v4 |
19 | g.38499712_38499721del | CA995715538 | RYR1 | c.7105_7114del (p.Arg2369ValfsTer?) c.7102_7111del (p.Arg2368ValfsTer?) c.557_566del n.7188_7197del | gnomAD v3 gnomAD v4 |
19 | g.38499712del | CA2843262409 | RYR1 | c.7105del (p.Arg2369GlyfsTer?) c.7102del (p.Arg2368GlyfsTer?) c.557del n.7188del | |
19 | g.38499712C>A | CA069152 | RYR1 | c.7105C>A (p.Arg2369=) c.7102C>A (p.Arg2368=) c.557C>A n.7188C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499712C= | CA2335052893 | RYR1 | c.7105C= (p.Arg2369=) c.7102C= (p.Arg2368=) c.557C= n.7188C= | |
19 | g.38499712C>G | CA082332 | RYR1 | c.7105C>G (p.Arg2369Gly) c.7102C>G (p.Arg2368Gly) c.557C>G n.7188C>G | gnomAD v4 |
19 | g.38499712C>T | CA405668091 | RYR1 | c.7105C>T (p.Arg2369Trp) c.7102C>T (p.Arg2368Trp) c.557C>T n.7188C>T | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.38499713G>A | CA069158 | RYR1 | c.7106G>A (p.Arg2369Gln) c.7103G>A (p.Arg2368Gln) c.558G>A n.7189G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38499713G>C | CA405668104 | RYR1 | c.7106G>C (p.Arg2369Pro) c.7103G>C (p.Arg2368Pro) c.558G>C n.7189G>C | |
19 | g.38499713G= | CA2335052894 | RYR1 | c.7106G= (p.Arg2369=) c.7103G= (p.Arg2368=) c.558G= n.7189G= | |
19 | g.38499713G>T | CA405668100 | RYR1 | c.7106G>T (p.Arg2369Leu) c.7103G>T (p.Arg2368Leu) c.558G>T n.7189G>T | dbSNP gnomAD v4 |
19 | g.38499716del | CA2584900037 | RYR1 | c.7109del (p.Gly2370ValfsTer?) c.7106del (p.Gly2369ValfsTer?) c.561del n.7192del | gnomAD v4 |
19 | g.38499714G>A | CA507353857 | RYR1 | c.7107G>A (p.Arg2369=) c.7104G>A (p.Arg2368=) c.559G>A n.7190G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499714G>C | CA507353858 | RYR1 | c.7107G>C (p.Arg2369=) c.7104G>C (p.Arg2368=) c.559G>C n.7190G>C | |
19 | g.38499714G>T | CA507353859 | RYR1 | c.7107G>T (p.Arg2369=) c.7104G>T (p.Arg2368=) c.559G>T n.7190G>T | gnomAD v4 |
19 | g.38499715G>A | CA308109549 | RYR1 | c.7108G>A (p.Gly2370Ser) c.7105G>A (p.Gly2369Ser) c.560G>A n.7191G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499715G>C | CA405668121 | RYR1 | c.7108G>C (p.Gly2370Arg) c.7105G>C (p.Gly2369Arg) c.560G>C n.7191G>C | |
19 | g.38499715G= | CA2335052895 | RYR1 | c.7108G= (p.Gly2370=) c.7105G= (p.Gly2369=) c.560G= n.7191G= | |
19 | g.38499715G>T | CA405668126 | RYR1 | c.7108G>T (p.Gly2370Cys) c.7105G>T (p.Gly2369Cys) c.560G>T n.7191G>T | gnomAD v4 |
19 | g.38499716G>A | CA082334 | RYR1 | c.7109G>A (p.Gly2370Asp) c.7106G>A (p.Gly2369Asp) c.561G>A n.7192G>A | gnomAD v4 |
19 | g.38499716G>C | CA405668129 | RYR1 | c.7109G>C (p.Gly2370Ala) c.7106G>C (p.Gly2369Ala) c.561G>C n.7192G>C | |
19 | g.38499716G= | CA2335052896 | RYR1 | c.7109G= (p.Gly2370=) c.7106G= (p.Gly2369=) c.561G= n.7192G= | |
19 | g.38499716G>T | CA405668130 | RYR1 | c.7109G>T (p.Gly2370Val) c.7106G>T (p.Gly2369Val) c.561G>T n.7192G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499717T>A | CA507353860 | RYR1 | c.7110T>A (p.Gly2370=) c.7107T>A (p.Gly2369=) c.562T>A n.7193T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499717T>C | CA507353861 | RYR1 | c.7110T>C (p.Gly2370=) c.7107T>C (p.Gly2369=) c.562T>C n.7193T>C | gnomAD v4 |
19 | g.38499717T>G | CA507353862 | RYR1 | c.7110T>G (p.Gly2370=) c.7107T>G (p.Gly2369=) c.562T>G n.7193T>G | |
19 | g.38499717T= | CA2335052897 | RYR1 | c.7110T= (p.Gly2370=) c.7107T= (p.Gly2369=) c.562T= n.7193T= | |
19 | g.38499718G>A | CA16043555 | RYR1 | c.7111G>A (p.Glu2371Lys) c.7108G>A (p.Glu2370Lys) c.563G>A n.7194G>A | ClinVar dbSNP |
19 | g.38499718G>C | CA405668151 | RYR1 | c.7111G>C (p.Glu2371Gln) c.7108G>C (p.Glu2370Gln) c.563G>C n.7194G>C | |
19 | g.38499718G= | CA2335052898 | RYR1 | c.7111G= (p.Glu2371=) c.7108G= (p.Glu2370=) c.563G= n.7194G= | |
19 | g.38499718G>T | CA405668153 | RYR1 | c.7111G>T (p.Glu2371Ter) c.7108G>T (p.Glu2370Ter) c.563G>T n.7194G>T | gnomAD v4 |
19 | g.38499719A>C | CA405668162 | RYR1 | c.7112A>C (p.Glu2371Ala) c.7109A>C (p.Glu2370Ala) c.564A>C n.7195A>C | |
19 | g.38499719A>G | CA405668159 | RYR1 | c.7112A>G (p.Glu2371Gly) c.7109A>G (p.Glu2370Gly) c.564A>G n.7195A>G | ClinVar dbSNP gnomAD v4 |
19 | g.38499719A>T | CA405668158 | RYR1 | c.7112A>T (p.Glu2371Val) c.7109A>T (p.Glu2370Val) c.564A>T n.7195A>T | |
19 | g.38499720G>A | CA507353863 | RYR1 | c.7113G>A (p.Glu2371=) c.7110G>A (p.Glu2370=) c.565G>A n.7196G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499720G>C | CA405668165 | RYR1 | c.7113G>C (p.Glu2371Asp) c.7110G>C (p.Glu2370Asp) c.565G>C n.7196G>C | |
19 | g.38499720G= | CA2335052899 | RYR1 | c.7113G= (p.Glu2371=) c.7110G= (p.Glu2370=) c.565G= n.7196G= | |
19 | g.38499720G>T | CA405668168 | RYR1 | c.7113G>T (p.Glu2371Asp) c.7110G>T (p.Glu2370Asp) c.565G>T n.7196G>T | gnomAD v4 |
19 | g.38499721G>A | CA405668170 | RYR1 | c.7114G>A (p.Gly2372Ser) c.7111G>A (p.Gly2371Ser) c.566G>A n.7197G>A | dbSNP |
19 | g.38499721G>C | CA405668172 | RYR1 | c.7114G>C (p.Gly2372Arg) c.7111G>C (p.Gly2371Arg) c.566G>C n.7197G>C | ClinVar dbSNP |
19 | g.38499721G= | CA2335052900 | RYR1 | c.7114G= (p.Gly2372=) c.7111G= (p.Gly2371=) c.566G= n.7197G= | |
19 | g.38499721G>T | CA405668174 | RYR1 | c.7114G>T (p.Gly2372Cys) c.7111G>T (p.Gly2371Cys) c.566G>T n.7197G>T | gnomAD v4 |
19 | g.38499722G>A | CA405668178 | RYR1 | c.7115G>A (p.Gly2372Asp) c.7112G>A (p.Gly2371Asp) c.567G>A n.7198G>A | |
19 | g.38499722G>C | CA069161 | RYR1 | c.7115G>C (p.Gly2372Ala) c.7112G>C (p.Gly2371Ala) c.567G>C n.7198G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499722G= | CA2335052901 | RYR1 | c.7115G= (p.Gly2372=) c.7112G= (p.Gly2371=) c.567G= n.7198G= | |
19 | g.38499722G>T | CA405668181 | RYR1 | c.7115G>T (p.Gly2372Val) c.7112G>T (p.Gly2371Val) c.567G>T n.7198G>T | gnomAD v4 |
19 | g.38499723T>A | CA507353864 | RYR1 | c.7116T>A (p.Gly2372=) c.7113T>A (p.Gly2371=) c.568T>A n.7199T>A | |
19 | g.38499723T>C | CA507353865 | RYR1 | c.7116T>C (p.Gly2372=) c.7113T>C (p.Gly2371=) c.568T>C n.7199T>C | |
19 | g.38499723T>G | CA507353866 | RYR1 | c.7116T>G (p.Gly2372=) c.7113T>G (p.Gly2371=) c.568T>G n.7199T>G | |
19 | g.38499724G>A | CA405668188 | RYR1 | c.7117G>A (p.Gly2373Ser) c.7114G>A (p.Gly2372Ser) c.569G>A n.7200G>A | ClinVar dbSNP gnomAD v2 |
19 | g.38499724G>C | CA405668189 | RYR1 | c.7117G>C (p.Gly2373Arg) c.7114G>C (p.Gly2372Arg) c.569G>C n.7200G>C | gnomAD v3 gnomAD v4 |
19 | g.38499724G= | CA2335052902 | RYR1 | c.7117G= (p.Gly2373=) c.7114G= (p.Gly2372=) c.569G= n.7200G= | |
19 | g.38499724G>T | CA405668192 | RYR1 | c.7117G>T (p.Gly2373Cys) c.7114G>T (p.Gly2372Cys) c.569G>T n.7200G>T | gnomAD v4 |
19 | g.38499725G>A | CA405668211 | RYR1 | c.7118G>A (p.Gly2373Asp) c.7115G>A (p.Gly2372Asp) c.570G>A n.7201G>A | gnomAD v4 |
19 | g.38499725G>C | CA082335 | RYR1 | c.7118G>C (p.Gly2373Ala) c.7115G>C (p.Gly2372Ala) c.570G>C n.7201G>C | |
19 | g.38499725G>T | CA405668197 | RYR1 | c.7118G>T (p.Gly2373Val) c.7115G>T (p.Gly2372Val) c.570G>T n.7201G>T | gnomAD v4 |
19 | g.38499726C>A | CA507353867 | RYR1 | c.7119C>A (p.Gly2373=) c.7116C>A (p.Gly2372=) c.571C>A n.7202C>A | |
19 | g.38499726C>G | CA507353868 | RYR1 | c.7119C>G (p.Gly2373=) c.7116C>G (p.Gly2372=) c.571C>G n.7202C>G | |
19 | g.38499726C>T | CA507353869 | RYR1 | c.7119C>T (p.Gly2373=) c.7116C>T (p.Gly2372=) c.571C>T n.7202C>T | gnomAD v4 |
19 | g.38499726_38499727insCG | CA2584900038 | RYR1 | c.7119_7120insCG (p.Ser2374ArgfsTer?) c.7116_7117insCG (p.Ser2373ArgfsTer?) c.571_572insCG n.7202_7203insCG | gnomAD v4 |
19 | g.38499727T>A | CA405668216 | RYR1 | c.7120T>A (p.Ser2374Thr) c.7117T>A (p.Ser2373Thr) c.572T>A n.7203T>A | |
19 | g.38499727T>C | CA405668220 | RYR1 | c.7120T>C (p.Ser2374Pro) c.7117T>C (p.Ser2373Pro) c.572T>C n.7203T>C | |
19 | g.38499727T>G | CA405668228 | RYR1 | c.7120T>G (p.Ser2374Ala) c.7117T>G (p.Ser2373Ala) c.572T>G n.7203T>G | |
19 | g.38499727_38499728insATCATTAAAAAA | CA2584900039 | RYR1 | c.7120_7121insATCATTAAAAAA (p.Ser2374TyrfsTer3) c.7117_7118insATCATTAAAAAA (p.Ser2373TyrfsTer3) c.572_573insATCATTAAAAAA n.7203_7204insATCATTAAAAAA | gnomAD v4 |
19 | g.38499728C>A | CA405668234 | RYR1 | c.7121C>A (p.Ser2374Ter) c.7118C>A (p.Ser2373Ter) c.573C>A n.7204C>A | |
19 | g.38499728C= | CA2335052903 | RYR1 | c.7121C= (p.Ser2374=) c.7118C= (p.Ser2373=) c.573C= n.7204C= | |
19 | g.38499728C>G | CA405668236 | RYR1 | c.7121C>G (p.Ser2374Ter) c.7118C>G (p.Ser2373Ter) c.573C>G n.7204C>G | gnomAD v4 COSMIC |
19 | g.38499728C>T | CA405668238 | RYR1 | c.7121C>T (p.Ser2374Leu) c.7118C>T (p.Ser2373Leu) c.573C>T n.7204C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499729A= | CA2335052905 | RYR1 | c.7122A= (p.Ser2374=) c.7119A= (p.Ser2373=) c.574A= n.7205A= | |
19 | g.38499729A>C | CA507353870 | RYR1 | c.7122A>C (p.Ser2374=) c.7119A>C (p.Ser2373=) c.574A>C n.7205A>C | |
19 | g.38499729A>G | CA507353871 | RYR1 | c.7122A>G (p.Ser2374=) c.7119A>G (p.Ser2373=) c.574A>G n.7205A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499729A>T | CA507353872 | RYR1 | c.7122A>T (p.Ser2374=) c.7119A>T (p.Ser2373=) c.574A>T n.7205A>T | |
19 | g.38499729_38499730delinsAG | CA2335052904 | RYR1 | c.7122_7123delinsAG (p.Ser2374=) c.7119_7120delinsAG (p.Ser2373=) c.574_575delinsAG n.7205_7206delinsAG | |
19 | g.38499730G>A | CA405668242 | RYR1 | c.7123G>A (p.Gly2375Arg) c.7120G>A (p.Gly2374Arg) c.575G>A n.7206G>A | ClinVar dbSNP |
19 | g.38499730G>C | CA405668243 | RYR1 | c.7123G>C (p.Gly2375Arg) c.7120G>C (p.Gly2374Arg) c.575G>C n.7206G>C | ClinVar dbSNP |
19 | g.38499730G= | CA2335052906 | RYR1 | c.7123G= (p.Gly2375=) c.7120G= (p.Gly2374=) c.575G= n.7206G= | |
19 | g.38499730G>T | CA405668246 | RYR1 | c.7123G>T (p.Gly2375Trp) c.7120G>T (p.Gly2374Trp) c.575G>T n.7206G>T | gnomAD v4 |
19 | g.38499732del | CA633066147 | RYR1 | c.7125del (p.Leu2376CysfsTer?) c.7122del (p.Leu2375CysfsTer?) c.577del n.7208del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499731G>A | CA405668249 | RYR1 | c.7124G>A (p.Gly2375Glu) c.7121G>A (p.Gly2374Glu) c.576G>A n.7207G>A | ClinVar dbSNP |
19 | g.38499731G>C | CA024718 | RYR1 | c.7124G>C (p.Gly2375Ala) c.7121G>C (p.Gly2374Ala) c.576G>C n.7207G>C | ClinVar dbSNP |
19 | g.38499731G= | CA2335052907 | RYR1 | c.7124G= (p.Gly2375=) c.7121G= (p.Gly2374=) c.576G= n.7207G= | |
19 | g.38499731G>T | CA405668250 | RYR1 | c.7124G>T (p.Gly2375Val) c.7121G>T (p.Gly2374Val) c.576G>T n.7207G>T | gnomAD v4 |
19 | g.38499732G>A | CA507353873 | RYR1 | c.7125G>A (p.Gly2375=) c.7122G>A (p.Gly2374=) c.577G>A n.7208G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499732G>C | CA507353875 | RYR1 | c.7125G>C (p.Gly2375=) c.7122G>C (p.Gly2374=) c.577G>C n.7208G>C | |
19 | g.38499732G= | CA2335052908 | RYR1 | c.7125G= (p.Gly2375=) c.7122G= (p.Gly2374=) c.577G= n.7208G= | |
19 | g.38499732G>T | CA507353874 | RYR1 | c.7125G>T (p.Gly2375=) c.7122G>T (p.Gly2374=) c.577G>T n.7208G>T | gnomAD v4 |
19 | g.38499733C>A | CA405668254 | RYR1 | c.7126C>A (p.Leu2376Met) c.7123C>A (p.Leu2375Met) c.578C>A n.7209C>A | gnomAD v4 |
19 | g.38499733C>G | CA405668252 | RYR1 | c.7126C>G (p.Leu2376Val) c.7123C>G (p.Leu2375Val) c.578C>G n.7209C>G | |
19 | g.38499733C>T | CA507353876 | RYR1 | c.7126C>T (p.Leu2376=) c.7123C>T (p.Leu2375=) c.578C>T n.7209C>T | gnomAD v4 |
19 | g.38499733dup | CA2843262410 | RYR1 | c.7126dup (p.Leu2376ProfsTer?) c.7123dup (p.Leu2375ProfsTer?) c.578dup n.7209dup |