Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38499881_38499882delinsTC | CA2335052991 | RYR1 | c.7215-27_7215-26delinsTC (n.7215-27_7215-26delinsTC) c.7212-27_7212-26delinsTC (n.7212-27_7212-26delinsTC) c.667-27_667-26delinsTC n.7298-27_7298-26delinsTC | |
19 | g.38499882C>A | CA2584900081 | RYR1 | c.7215-26C>A (n.7215-26C>A) c.7212-26C>A (n.7212-26C>A) c.667-26C>A n.7298-26C>A | gnomAD v4 |
19 | g.38499882C= | CA2335052992 | RYR1 | c.7215-26C= (n.7215-26C=) c.7212-26C= (n.7212-26C=) c.667-26C= n.7298-26C= | |
19 | g.38499882C>T | CA308109762 | RYR1 | c.7215-26C>T (n.7215-26C>T) c.7212-26C>T (n.7212-26C>T) c.667-26C>T n.7298-26C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499885del | CA633066155 | RYR1 | c.7215-23del (n.7215-23del) c.7212-23del (n.7212-23del) c.667-23del n.7298-23del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499883C>A | CA2584900082 | RYR1 | c.7215-25C>A (n.7215-25C>A) c.7212-25C>A (n.7212-25C>A) c.667-25C>A n.7298-25C>A | gnomAD v4 |
19 | g.38499884C>A | CA2576771084 | RYR1 | c.7215-24C>A (n.7215-24C>A) c.7212-24C>A (n.7212-24C>A) c.667-24C>A n.7298-24C>A | |
19 | g.38499884C>T | CA2814346193 | RYR1 | c.7215-24C>T (n.7215-24C>T) c.7212-24C>T (n.7212-24C>T) c.667-24C>T n.7298-24C>T | |
19 | g.38499885C= | CA2335052993 | RYR1 | c.7215-23C= (n.7215-23C=) c.7212-23C= (n.7212-23C=) c.667-23C= n.7298-23C= | |
19 | g.38499885C>T | CA2335052994 | RYR1 | c.7215-23C>T (n.7215-23C>T) c.7212-23C>T (n.7212-23C>T) c.667-23C>T n.7298-23C>T | dbSNP |
19 | g.38499886A= | CA2335052995 | RYR1 | c.7215-22A= (n.7215-22A=) c.7212-22A= (n.7212-22A=) c.667-22A= n.7298-22A= | |
19 | g.38499886A>C | CA995715651 | RYR1 | c.7215-22A>C (n.7215-22A>C) c.7212-22A>C (n.7212-22A>C) c.667-22A>C n.7298-22A>C | gnomAD v3 gnomAD v4 |
19 | g.38499886A>T | CA995715653 | RYR1 | c.7215-22A>T (n.7215-22A>T) c.7212-22A>T (n.7212-22A>T) c.667-22A>T n.7298-22A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499887A= | CA2335052996 | RYR1 | c.7215-21A= (n.7215-21A=) c.7212-21A= (n.7212-21A=) c.667-21A= n.7298-21A= | |
19 | g.38499887A>C | CA633066156 | RYR1 | c.7215-21A>C (n.7215-21A>C) c.7212-21A>C (n.7212-21A>C) c.667-21A>C n.7298-21A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499887A>G | CA633066157 | RYR1 | c.7215-21A>G (n.7215-21A>G) c.7212-21A>G (n.7212-21A>G) c.667-21A>G n.7298-21A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499894_38499897del | CA2576771085 | RYR1 | c.7215-14_7215-11del (n.7215-14_7215-11del) c.7212-14_7212-11del (n.7212-14_7212-11del) c.667-14_667-11del n.7298-14_7298-11del | |
19 | g.38499888C>A | CA2584900083 | RYR1 | c.7215-20C>A (n.7215-20C>A) c.7212-20C>A (n.7212-20C>A) c.667-20C>A n.7298-20C>A | gnomAD v4 |
19 | g.38499890dup | CA2839137453 | RYR1 | c.7215-18dup (n.7215-18dup) c.7212-18dup (n.7212-18dup) c.667-18dup n.7298-18dup | |
19 | g.38499889C= | CA2335052997 | RYR1 | c.7215-19C= (n.7215-19C=) c.7212-19C= (n.7212-19C=) c.667-19C= n.7298-19C= | |
19 | g.38499889C>G | CA882051519 | RYR1 | c.7215-19C>G (n.7215-19C>G) c.7212-19C>G (n.7212-19C>G) c.667-19C>G n.7298-19C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499889C>T | CA2584900084 | RYR1 | c.7215-19C>T (n.7215-19C>T) c.7212-19C>T (n.7212-19C>T) c.667-19C>T n.7298-19C>T | gnomAD v4 |
19 | g.38499890C>A | CA2843262420 | RYR1 | c.7215-18C>A (n.7215-18C>A) c.7212-18C>A (n.7212-18C>A) c.667-18C>A n.7298-18C>A | |
19 | g.38499890C= | CA2335052998 | RYR1 | c.7215-18C= (n.7215-18C=) c.7212-18C= (n.7212-18C=) c.667-18C= n.7298-18C= | |
19 | g.38499890C>G | CA069301 | RYR1 | c.7215-18C>G (n.7215-18C>G) c.7212-18C>G (n.7212-18C>G) c.667-18C>G n.7298-18C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499890C>T | CA2584900085 | RYR1 | c.7215-18C>T (n.7215-18C>T) c.7212-18C>T (n.7212-18C>T) c.667-18C>T n.7298-18C>T | gnomAD v4 |
19 | g.38499891A>C | CA995715657 | RYR1 | c.7215-17A>C (n.7215-17A>C) c.7212-17A>C (n.7212-17A>C) c.667-17A>C n.7298-17A>C | gnomAD v3 gnomAD v4 |
19 | g.38499892C= | CA2335052999 | RYR1 | c.7215-16C= (n.7215-16C=) c.7212-16C= (n.7212-16C=) c.667-16C= n.7298-16C= | |
19 | g.38499892C>G | CA882051524 | RYR1 | c.7215-16C>G (n.7215-16C>G) c.7212-16C>G (n.7212-16C>G) c.667-16C>G n.7298-16C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499894del | CA2584900086 | RYR1 | c.7215-14del (n.7215-14del) c.7212-14del (n.7212-14del) c.667-14del n.7298-14del | gnomAD v4 |
19 | g.38499893C>G | CA082379 | RYR1 | c.7215-15C>G (n.7215-15C>G) c.7212-15C>G (n.7212-15C>G) c.667-15C>G n.7298-15C>G | |
19 | g.38499893C>T | CA2584900087 | RYR1 | c.7215-15C>T (n.7215-15C>T) c.7212-15C>T (n.7212-15C>T) c.667-15C>T n.7298-15C>T | gnomAD v4 |
19 | g.38499894C= | CA2335053000 | RYR1 | c.7215-14C= (n.7215-14C=) c.7212-14C= (n.7212-14C=) c.667-14C= n.7298-14C= | |
19 | g.38499894C>T | CA069298 | RYR1 | c.7215-14C>T (n.7215-14C>T) c.7212-14C>T (n.7212-14C>T) c.667-14C>T n.7298-14C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499895A>C | CA995715664 | RYR1 | c.7215-13A>C (n.7215-13A>C) c.7212-13A>C (n.7212-13A>C) c.667-13A>C n.7298-13A>C | gnomAD v3 gnomAD v4 |
19 | g.38499896C= | CA2335053001 | RYR1 | c.7215-12C= (n.7215-12C=) c.7212-12C= (n.7212-12C=) c.667-12C= n.7298-12C= | |
19 | g.38499896C>T | CA308109770 | RYR1 | c.7215-12C>T (n.7215-12C>T) c.7212-12C>T (n.7212-12C>T) c.667-12C>T n.7298-12C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499897C= | CA2335053002 | RYR1 | c.7215-11C= (n.7215-11C=) c.7212-11C= (n.7212-11C=) c.667-11C= n.7298-11C= | |
19 | g.38499897C>T | CA082378 | RYR1 | c.7215-11C>T (n.7215-11C>T) c.7212-11C>T (n.7212-11C>T) c.667-11C>T n.7298-11C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38499898T>A | CA2335053004 | RYR1 | c.7215-10T>A (n.7215-10T>A) c.7212-10T>A (n.7212-10T>A) c.667-10T>A n.7298-10T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499898T>G | CA2825002780 | RYR1 | c.7215-10T>G (n.7215-10T>G) c.7212-10T>G (n.7212-10T>G) c.667-10T>G n.7298-10T>G | ClinVar |
19 | g.38499898T= | CA2335053003 | RYR1 | c.7215-10T= (n.7215-10T=) c.7212-10T= (n.7212-10T=) c.667-10T= n.7298-10T= | |
19 | g.38499898_38499899insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT | CA633066132 | RYR1 | c.7215-10_7215-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT (n.7215-10_7215-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT) c.7212-10_7212-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT (n.7212-10_7212-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT) c.667-10_667-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT n.7298-10_7298-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT | dbSNP gnomAD v2 |
19 | g.38499900C>A | CA2584900088 | RYR1 | c.7215-8C>A (n.7215-8C>A) c.7212-8C>A (n.7212-8C>A) c.667-8C>A n.7298-8C>A | gnomAD v4 |
19 | g.38499901C>A | CA2843262421 | RYR1 | c.7215-7C>A (n.7215-7C>A) c.7212-7C>A (n.7212-7C>A) c.667-7C>A n.7298-7C>A | |
19 | g.38499901C= | CA2335053005 | RYR1 | c.7215-7C= (n.7215-7C=) c.7212-7C= (n.7212-7C=) c.667-7C= n.7298-7C= | |
19 | g.38499901C>G | CA2580097206 | RYR1 | c.7215-7C>G (n.7215-7C>G) c.7212-7C>G (n.7212-7C>G) c.667-7C>G n.7298-7C>G | ClinVar gnomAD v4 |
19 | g.38499901C>T | CA633066133 | RYR1 | c.7215-7C>T (n.7215-7C>T) c.7212-7C>T (n.7212-7C>T) c.667-7C>T n.7298-7C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499902C>T | CA2573156327 | RYR1 | c.7215-6C>T (n.7215-6C>T) c.7212-6C>T (n.7212-6C>T) c.667-6C>T n.7298-6C>T | ClinVar dbSNP |
19 | g.38499903T>A | CA2527904729 | RYR1 | c.7215-5T>A (n.7215-5T>A) c.7212-5T>A (n.7212-5T>A) c.667-5T>A n.7298-5T>A | gnomAD v4 |
19 | g.38499903T>G | CA2814346194 | RYR1 | c.7215-5T>G (n.7215-5T>G) c.7212-5T>G (n.7212-5T>G) c.667-5T>G n.7298-5T>G | |
19 | g.38499905C= | CA2335053006 | RYR1 | c.7215-3C= (n.7215-3C=) c.7212-3C= (n.7212-3C=) c.667-3C= n.7298-3C= | |
19 | g.38499905C>G | CA2814346195 | RYR1 | c.7215-3C>G (n.7215-3C>G) c.7212-3C>G (n.7212-3C>G) c.667-3C>G n.7298-3C>G | |
19 | g.38499905C>T | CA633066134 | RYR1 | c.7215-3C>T (n.7215-3C>T) c.7212-3C>T (n.7212-3C>T) c.667-3C>T n.7298-3C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499906A>C | CA405669000 | RYR1 | c.7215-2A>C (n.7215-2A>C) c.7212-2A>C (n.7212-2A>C) c.667-2A>C n.7298-2A>C | |
19 | g.38499906A>G | CA405669003 | RYR1 | c.7215-2A>G (n.7215-2A>G) c.7212-2A>G (n.7212-2A>G) c.667-2A>G n.7298-2A>G | |
19 | g.38499906A>T | CA405669004 | RYR1 | c.7215-2A>T (n.7215-2A>T) c.7212-2A>T (n.7212-2A>T) c.667-2A>T n.7298-2A>T | |
19 | g.38499907G>A | CA405669006 | RYR1 | c.7215-1G>A (n.7215-1G>A) c.7212-1G>A (n.7212-1G>A) c.667-1G>A n.7298-1G>A | |
19 | g.38499907G>C | CA405669008 | RYR1 | c.7215-1G>C (n.7215-1G>C) c.7212-1G>C (n.7212-1G>C) c.667-1G>C n.7298-1G>C | |
19 | g.38499907G>T | CA405669012 | RYR1 | c.7215-1G>T (n.7215-1G>T) c.7212-1G>T (n.7212-1G>T) c.667-1G>T n.7298-1G>T | ClinVar |
19 | g.38499907_38499908del | CA913015952 | RYR1 | c.7215-1_7215del c.7212-1_7212del c.667-1_667del n.7298-1_7298del | |
19 | g.38499907_38499908delinsGC | CA2335053007 | RYR1 | c.7215-1_7215delinsGC c.7212-1_7212delinsGC c.667-1_667delinsGC n.7298-1_7298delinsGC | |
19 | g.38499908del | CA658824676 | RYR1 | c.7215del (p.Phe2406LeufsTer24) c.7212del (p.Phe2405LeufsTer24) c.667del n.7298del | ClinVar dbSNP |
19 | g.38499908C>A | CA405669016 | RYR1 | c.7215C>A (p.His2405Gln) c.7212C>A (p.His2404Gln) c.667C>A n.7298C>A | |
19 | g.38499908C>G | CA405669018 | RYR1 | c.7215C>G (p.His2405Gln) c.7212C>G (p.His2404Gln) c.667C>G n.7298C>G | |
19 | g.38499908C>T | CA507353692 | RYR1 | c.7215C>T (p.His2405=) c.7212C>T (p.His2404=) c.667C>T n.7298C>T | |
19 | g.38499909T>A | CA405669030 | RYR1 | c.7216T>A (p.Phe2406Ile) c.7213T>A (p.Phe2405Ile) c.668T>A n.7299T>A | |
19 | g.38499909T>C | CA405669025 | RYR1 | c.7216T>C (p.Phe2406Leu) c.7213T>C (p.Phe2405Leu) c.668T>C n.7299T>C | |
19 | g.38499909T>G | CA405669022 | RYR1 | c.7216T>G (p.Phe2406Val) c.7213T>G (p.Phe2405Val) c.668T>G n.7299T>G | |
19 | g.38499911dup | CA645612039 | RYR1 | c.7218dup (p.Gly2407TrpfsTer2) c.7215dup (p.Gly2406TrpfsTer2) c.670dup n.7301dup | COSMIC |
19 | g.38499910T>A | CA405669032 | RYR1 | c.7217T>A (p.Phe2406Tyr) c.7214T>A (p.Phe2405Tyr) c.669T>A n.7300T>A | |
19 | g.38499910T>C | CA405669036 | RYR1 | c.7217T>C (p.Phe2406Ser) c.7214T>C (p.Phe2405Ser) c.669T>C n.7300T>C | |
19 | g.38499910T>G | CA405669037 | RYR1 | c.7217T>G (p.Phe2406Cys) c.7214T>G (p.Phe2405Cys) c.669T>G n.7300T>G | |
19 | g.38499911T>A | CA405669040 | RYR1 | c.7218T>A (p.Phe2406Leu) c.7215T>A (p.Phe2405Leu) c.670T>A n.7301T>A | |
19 | g.38499911T>C | CA507353694 | RYR1 | c.7218T>C (p.Phe2406=) c.7215T>C (p.Phe2405=) c.670T>C n.7301T>C | ClinVar |
19 | g.38499911T>G | CA405669042 | RYR1 | c.7218T>G (p.Phe2406Leu) c.7215T>G (p.Phe2405Leu) c.670T>G n.7301T>G | |
19 | g.38499912G>A | CA405669055 | RYR1 | c.7219G>A (p.Gly2407Ser) c.7216G>A (p.Gly2406Ser) c.671G>A n.7302G>A | |
19 | g.38499912G>C | CA405669053 | RYR1 | c.7219G>C (p.Gly2407Arg) c.7216G>C (p.Gly2406Arg) c.671G>C n.7302G>C | |
19 | g.38499912G>T | CA405669047 | RYR1 | c.7219G>T (p.Gly2407Cys) c.7216G>T (p.Gly2406Cys) c.671G>T n.7302G>T | |
19 | g.38499913G>A | CA069314 | RYR1 | c.7220G>A (p.Gly2407Asp) c.7217G>A (p.Gly2406Asp) c.672G>A n.7303G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499913G>C | CA405669058 | RYR1 | c.7220G>C (p.Gly2407Ala) c.7217G>C (p.Gly2406Ala) c.672G>C n.7303G>C | |
19 | g.38499913G= | CA2335053008 | RYR1 | c.7220G= (p.Gly2407=) c.7217G= (p.Gly2406=) c.672G= n.7303G= | |
19 | g.38499913G>T | CA405669059 | RYR1 | c.7220G>T (p.Gly2407Val) c.7217G>T (p.Gly2406Val) c.672G>T n.7303G>T | |
19 | g.38499914T>A | CA507353697 | RYR1 | c.7221T>A (p.Gly2407=) c.7218T>A (p.Gly2406=) c.673T>A n.7304T>A | |
19 | g.38499914T>C | CA507353698 | RYR1 | c.7221T>C (p.Gly2407=) c.7218T>C (p.Gly2406=) c.673T>C n.7304T>C | COSMIC |
19 | g.38499914T>G | CA507353699 | RYR1 | c.7221T>G (p.Gly2407=) c.7218T>G (p.Gly2406=) c.673T>G n.7304T>G | gnomAD v3 gnomAD v4 |
19 | g.38499915G>A | CA405669061 | RYR1 | c.7222G>A (p.Glu2408Lys) c.7219G>A (p.Glu2407Lys) c.674G>A n.7305G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499915G>C | CA405669063 | RYR1 | c.7222G>C (p.Glu2408Gln) c.7219G>C (p.Glu2407Gln) c.674G>C n.7305G>C | |
19 | g.38499915G= | CA2335053009 | RYR1 | c.7222G= (p.Glu2408=) c.7219G= (p.Glu2407=) c.674G= n.7305G= | |
19 | g.38499915G>T | CA405669065 | RYR1 | c.7222G>T (p.Glu2408Ter) c.7219G>T (p.Glu2407Ter) c.674G>T n.7305G>T | |
19 | g.38499916A>C | CA405669070 | RYR1 | c.7223A>C (p.Glu2408Ala) c.7220A>C (p.Glu2407Ala) c.675A>C n.7306A>C | |
19 | g.38499916A>G | CA405669073 | RYR1 | c.7223A>G (p.Glu2408Gly) c.7220A>G (p.Glu2407Gly) c.675A>G n.7306A>G | |
19 | g.38499916A>T | CA405669071 | RYR1 | c.7223A>T (p.Glu2408Val) c.7220A>T (p.Glu2407Val) c.675A>T n.7306A>T | |
19 | g.38499917G>A | CA507353700 | RYR1 | c.7224G>A (p.Glu2408=) c.7221G>A (p.Glu2407=) c.676G>A n.7307G>A | |
19 | g.38499917G>C | CA405669076 | RYR1 | c.7224G>C (p.Glu2408Asp) c.7221G>C (p.Glu2407Asp) c.676G>C n.7307G>C | |
19 | g.38499917G>T | CA405669080 | RYR1 | c.7224G>T (p.Glu2408Asp) c.7221G>T (p.Glu2407Asp) c.676G>T n.7307G>T | |
19 | g.38499918G>A | CA405669083 | RYR1 | c.7225G>A (p.Glu2409Lys) c.7222G>A (p.Glu2408Lys) c.677G>A n.7308G>A | COSMIC |
19 | g.38499918G>C | CA405669084 | RYR1 | c.7225G>C (p.Glu2409Gln) c.7222G>C (p.Glu2408Gln) c.677G>C n.7308G>C | |
19 | g.38499918G>T | CA405669086 | RYR1 | c.7225G>T (p.Glu2409Ter) c.7222G>T (p.Glu2408Ter) c.677G>T n.7308G>T | |
19 | g.38499918_38499920dup | CA2584900089 | RYR1 | c.7225_7227dup (p.Glu2409_Pro2410insGlu) c.7222_7224dup (p.Glu2408_Pro2409insGlu) c.677_679dup n.7308_7310dup | gnomAD v4 |
19 | g.38499919A>C | CA405669091 | RYR1 | c.7226A>C (p.Glu2409Ala) c.7223A>C (p.Glu2408Ala) c.678A>C n.7309A>C | |
19 | g.38499919A>G | CA405669093 | RYR1 | c.7226A>G (p.Glu2409Gly) c.7223A>G (p.Glu2408Gly) c.678A>G n.7309A>G | |
19 | g.38499919A>T | CA405669094 | RYR1 | c.7226A>T (p.Glu2409Val) c.7223A>T (p.Glu2408Val) c.678A>T n.7309A>T | |
19 | g.38499920A>C | CA405669096 | RYR1 | c.7227A>C (p.Glu2409Asp) c.7224A>C (p.Glu2408Asp) c.679A>C n.7310A>C | |
19 | g.38499920A>G | CA507353703 | RYR1 | c.7227A>G (p.Glu2409=) c.7224A>G (p.Glu2408=) c.679A>G n.7310A>G | ClinVar |
19 | g.38499920A>T | CA405669100 | RYR1 | c.7227A>T (p.Glu2409Asp) c.7224A>T (p.Glu2408Asp) c.679A>T n.7310A>T | |
19 | g.38499921C>A | CA069317 | RYR1 | c.7228C>A (p.Pro2410Thr) c.7225C>A (p.Pro2409Thr) c.680C>A n.7311C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499921C= | CA2335053010 | RYR1 | c.7228C= (p.Pro2410=) c.7225C= (p.Pro2409=) c.680C= n.7311C= | |
19 | g.38499921C>G | CA405669103 | RYR1 | c.7228C>G (p.Pro2410Ala) c.7225C>G (p.Pro2409Ala) c.680C>G n.7311C>G | |
19 | g.38499921C>T | CA082363 | RYR1 | c.7228C>T (p.Pro2410Ser) c.7225C>T (p.Pro2409Ser) c.680C>T n.7311C>T | |
19 | g.38499922C>A | CA405669104 | RYR1 | c.7229C>A (p.Pro2410Gln) c.7226C>A (p.Pro2409Gln) c.681C>A n.7312C>A | gnomAD v4 |
19 | g.38499922C= | CA2335053011 | RYR1 | c.7229C= (p.Pro2410=) c.7226C= (p.Pro2409=) c.681C= n.7312C= | |
19 | g.38499922C>G | CA405669107 | RYR1 | c.7229C>G (p.Pro2410Arg) c.7226C>G (p.Pro2409Arg) c.681C>G n.7312C>G | |
19 | g.38499922C>T | CA069321 | RYR1 | c.7229C>T (p.Pro2410Leu) c.7226C>T (p.Pro2409Leu) c.681C>T n.7312C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499923G>A | CA069333 | RYR1 | c.7230G>A (p.Pro2410=) c.7227G>A (p.Pro2409=) c.682G>A n.7313G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499923G>C | CA507353706 | RYR1 | c.7230G>C (p.Pro2410=) c.7227G>C (p.Pro2409=) c.682G>C n.7313G>C | |
19 | g.38499923G= | CA2335053012 | RYR1 | c.7230G= (p.Pro2410=) c.7227G= (p.Pro2409=) c.682G= n.7313G= | |
19 | g.38499923G>T | CA507353704 | RYR1 | c.7230G>T (p.Pro2410=) c.7227G>T (p.Pro2409=) c.682G>T n.7313G>T | |
19 | g.38499924C>A | CA082382 | RYR1 | c.7231C>A (p.Pro2411Thr) c.7228C>A (p.Pro2410Thr) c.683C>A n.7314C>A | dbSNP gnomAD v2 |
19 | g.38499924C= | CA2335053013 | RYR1 | c.7231C= (p.Pro2411=) c.7228C= (p.Pro2410=) c.683C= n.7314C= | |
19 | g.38499924C>G | CA405669117 | RYR1 | c.7231C>G (p.Pro2411Ala) c.7228C>G (p.Pro2410Ala) c.683C>G n.7314C>G | |
19 | g.38499924C>T | CA405669120 | RYR1 | c.7231C>T (p.Pro2411Ser) c.7228C>T (p.Pro2410Ser) c.683C>T n.7314C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499925C>A | CA405669124 | RYR1 | c.7232C>A (p.Pro2411His) c.7229C>A (p.Pro2410His) c.684C>A n.7315C>A | dbSNP gnomAD v4 |
19 | g.38499925C= | CA2335053014 | RYR1 | c.7232C= (p.Pro2411=) c.7229C= (p.Pro2410=) c.684C= n.7315C= | |
19 | g.38499925C>G | CA405669126 | RYR1 | c.7232C>G (p.Pro2411Arg) c.7229C>G (p.Pro2410Arg) c.684C>G n.7315C>G | |
19 | g.38499925C>T | CA082365 | RYR1 | c.7232C>T (p.Pro2411Leu) c.7229C>T (p.Pro2410Leu) c.684C>T n.7315C>T | |
19 | g.38499926del | CA2573156328 | RYR1 | c.7233del (p.Glu2412LysfsTer18) c.7230del (p.Glu2411LysfsTer18) c.685del n.7316del | ClinVar dbSNP |
19 | g.38499926T>A | CA507353709 | RYR1 | c.7233T>A (p.Pro2411=) c.7230T>A (p.Pro2410=) c.685T>A n.7316T>A | |
19 | g.38499926T>C | CA507353710 | RYR1 | c.7233T>C (p.Pro2411=) c.7230T>C (p.Pro2410=) c.685T>C n.7316T>C | |
19 | g.38499926T>G | CA507353711 | RYR1 | c.7233T>G (p.Pro2411=) c.7230T>G (p.Pro2410=) c.685T>G n.7316T>G | |
19 | g.38499927G>A | CA405669132 | RYR1 | c.7234G>A (p.Glu2412Lys) c.7231G>A (p.Glu2411Lys) c.686G>A n.7317G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499927G>C | CA405669135 | RYR1 | c.7234G>C (p.Glu2412Gln) c.7231G>C (p.Glu2411Gln) c.686G>C n.7317G>C | |
19 | g.38499927G= | CA2335053015 | RYR1 | c.7234G= (p.Glu2412=) c.7231G= (p.Glu2411=) c.686G= n.7317G= | |
19 | g.38499927G>T | CA405669136 | RYR1 | c.7234G>T (p.Glu2412Ter) c.7231G>T (p.Glu2411Ter) c.686G>T n.7317G>T | |
19 | g.38499928A>C | CA405669137 | RYR1 | c.7235A>C (p.Glu2412Ala) c.7232A>C (p.Glu2411Ala) c.687A>C n.7318A>C | |
19 | g.38499928A>G | CA405669138 | RYR1 | c.7235A>G (p.Glu2412Gly) c.7232A>G (p.Glu2411Gly) c.687A>G n.7318A>G | |
19 | g.38499928A>T | CA405669139 | RYR1 | c.7235A>T (p.Glu2412Val) c.7232A>T (p.Glu2411Val) c.687A>T n.7318A>T | |
19 | g.38499929A>C | CA405669140 | RYR1 | c.7236A>C (p.Glu2412Asp) c.7233A>C (p.Glu2411Asp) c.688A>C n.7319A>C | |
19 | g.38499929A>G | CA507353716 | RYR1 | c.7236A>G (p.Glu2412=) c.7233A>G (p.Glu2411=) c.688A>G n.7319A>G | |
19 | g.38499929A>T | CA405669141 | RYR1 | c.7236A>T (p.Glu2412Asp) c.7233A>T (p.Glu2411Asp) c.688A>T n.7319A>T | gnomAD v4 |
19 | g.38499929_38499930delinsGC | CA082368 | RYR1 | c.7236_7237delinsGC (p.Glu2413Gln) c.7233_7234delinsGC (p.Glu2412Gln) c.688_689delinsGC n.7319_7320delinsGC | |
19 | g.38499930G>A | CA405669144 | RYR1 | c.7237G>A (p.Glu2413Lys) c.7234G>A (p.Glu2412Lys) c.689G>A n.7320G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499930G>C | CA405669145 | RYR1 | c.7237G>C (p.Glu2413Gln) c.7234G>C (p.Glu2412Gln) c.689G>C n.7320G>C | |
19 | g.38499930G= | CA2335053016 | RYR1 | c.7237G= (p.Glu2413=) c.7234G= (p.Glu2412=) c.689G= n.7320G= | |
19 | g.38499930G>T | CA405669155 | RYR1 | c.7237G>T (p.Glu2413Ter) c.7234G>T (p.Glu2412Ter) c.689G>T n.7320G>T | ClinVar dbSNP |
19 | g.38499931A>C | CA405669156 | RYR1 | c.7238A>C (p.Glu2413Ala) c.7235A>C (p.Glu2412Ala) c.690A>C n.7321A>C | gnomAD v4 |
19 | g.38499931A>G | CA405669157 | RYR1 | c.7238A>G (p.Glu2413Gly) c.7235A>G (p.Glu2412Gly) c.690A>G n.7321A>G | |
19 | g.38499931A>T | CA405669158 | RYR1 | c.7238A>T (p.Glu2413Val) c.7235A>T (p.Glu2412Val) c.690A>T n.7321A>T | |
19 | g.38499932A>C | CA405669159 | RYR1 | c.7239A>C (p.Glu2413Asp) c.7236A>C (p.Glu2412Asp) c.691A>C n.7322A>C | gnomAD v4 |
19 | g.38499932A>G | CA507353718 | RYR1 | c.7239A>G (p.Glu2413=) c.7236A>G (p.Glu2412=) c.691A>G n.7322A>G | |
19 | g.38499932A>T | CA405669160 | RYR1 | c.7239A>T (p.Glu2413Asp) c.7236A>T (p.Glu2412Asp) c.691A>T n.7322A>T | |
19 | g.38499933A>C | CA405669163 | RYR1 | c.7240A>C (p.Asn2414His) c.7237A>C (p.Asn2413His) c.692A>C n.7323A>C | gnomAD v4 |
19 | g.38499933A>G | CA405669165 | RYR1 | c.7240A>G (p.Asn2414Asp) c.7237A>G (p.Asn2413Asp) c.692A>G n.7323A>G | |
19 | g.38499933A>T | CA405669170 | RYR1 | c.7240A>T (p.Asn2414Tyr) c.7237A>T (p.Asn2413Tyr) c.692A>T n.7323A>T | |
19 | g.38499934A>C | CA405669177 | RYR1 | c.7241A>C (p.Asn2414Thr) c.7238A>C (p.Asn2413Thr) c.693A>C n.7324A>C | |
19 | g.38499934A>G | CA082371 | RYR1 | c.7241A>G (p.Asn2414Ser) c.7238A>G (p.Asn2413Ser) c.693A>G n.7324A>G | COSMIC |
19 | g.38499934A>T | CA405669174 | RYR1 | c.7241A>T (p.Asn2414Ile) c.7238A>T (p.Asn2413Ile) c.693A>T n.7324A>T | |
19 | g.38499935C>A | CA405669180 | RYR1 | c.7242C>A (p.Asn2414Lys) c.7239C>A (p.Asn2413Lys) c.694C>A n.7325C>A | |
19 | g.38499935C= | CA2335053017 | RYR1 | c.7242C= (p.Asn2414=) c.7239C= (p.Asn2413=) c.694C= n.7325C= | |
19 | g.38499935C>G | CA405669182 | RYR1 | c.7242C>G (p.Asn2414Lys) c.7239C>G (p.Asn2413Lys) c.694C>G n.7325C>G | |
19 | g.38499935C>T | CA507353721 | RYR1 | c.7242C>T (p.Asn2414=) c.7239C>T (p.Asn2413=) c.694C>T n.7325C>T | ClinVar dbSNP |
19 | g.38499936C>A | CA507353722 | RYR1 | c.7243C>A (p.Arg2415=) c.7240C>A (p.Arg2414=) c.695C>A n.7326C>A | |
19 | g.38499936C= | CA2335053018 | RYR1 | c.7243C= (p.Arg2415=) c.7240C= (p.Arg2414=) c.695C= n.7326C= | |
19 | g.38499936C>G | CA069335 | RYR1 | c.7243C>G (p.Arg2415Gly) c.7240C>G (p.Arg2414Gly) c.695C>G n.7326C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499936C>T | CA069339 | RYR1 | c.7243C>T (p.Arg2415Trp) c.7240C>T (p.Arg2414Trp) c.695C>T n.7326C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499936_38499937delinsCG | CA2335053019 | RYR1 | c.7243_7244delinsCG (p.Arg2415=) c.7240_7241delinsCG (p.Arg2414=) c.695_696delinsCG n.7326_7327delinsCG | |
19 | g.38499937G>A | CA069343 | RYR1 | c.7244G>A (p.Arg2415Gln) c.7241G>A (p.Arg2414Gln) c.696G>A n.7327G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499937G>C | CA405669198 | RYR1 | c.7244G>C (p.Arg2415Pro) c.7241G>C (p.Arg2414Pro) c.696G>C n.7327G>C | |
19 | g.38499937G= | CA2335053020 | RYR1 | c.7244G= (p.Arg2415=) c.7241G= (p.Arg2414=) c.696G= n.7327G= | |
19 | g.38499937G>T | CA405669201 | RYR1 | c.7244G>T (p.Arg2415Leu) c.7241G>T (p.Arg2414Leu) c.696G>T n.7327G>T | |
19 | g.38499939del | CA633066135 | RYR1 | c.7246del (p.Val2416CysfsTer14) c.7243del (p.Val2415CysfsTer14) c.698del n.7329del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499938G>A | CA082372 | RYR1 | c.7245G>A (p.Arg2415=) c.7242G>A (p.Arg2414=) c.697G>A n.7328G>A | gnomAD v4 |
19 | g.38499938G>C | CA507353723 | RYR1 | c.7245G>C (p.Arg2415=) c.7242G>C (p.Arg2414=) c.697G>C n.7328G>C | |
19 | g.38499938G>T | CA507353724 | RYR1 | c.7245G>T (p.Arg2415=) c.7242G>T (p.Arg2414=) c.697G>T n.7328G>T | |
19 | g.38499939G>A | CA405669205 | RYR1 | c.7246G>A (p.Val2416Met) c.7243G>A (p.Val2415Met) c.698G>A n.7329G>A | ClinVar |
19 | g.38499939G>C | CA405669217 | RYR1 | c.7246G>C (p.Val2416Leu) c.7243G>C (p.Val2415Leu) c.698G>C n.7329G>C | |
19 | g.38499939G>T | CA405669219 | RYR1 | c.7246G>T (p.Val2416Leu) c.7243G>T (p.Val2415Leu) c.698G>T n.7329G>T | |
19 | g.38499940T>A | CA405669220 | RYR1 | c.7247T>A (p.Val2416Glu) c.7244T>A (p.Val2415Glu) c.699T>A n.7330T>A | |
19 | g.38499940T>C | CA405669221 | RYR1 | c.7247T>C (p.Val2416Ala) c.7244T>C (p.Val2415Ala) c.699T>C n.7330T>C | |
19 | g.38499940T>G | CA405669222 | RYR1 | c.7247T>G (p.Val2416Gly) c.7244T>G (p.Val2415Gly) c.699T>G n.7330T>G | |
19 | g.38499941G>A | CA507353725 | RYR1 | c.7248G>A (p.Val2416=) c.7245G>A (p.Val2415=) c.700G>A n.7331G>A | gnomAD v4 |
19 | g.38499941G>C | CA507353726 | RYR1 | c.7248G>C (p.Val2416=) c.7245G>C (p.Val2415=) c.700G>C n.7331G>C | |
19 | g.38499941G>T | CA507353727 | RYR1 | c.7248G>T (p.Val2416=) c.7245G>T (p.Val2415=) c.700G>T n.7331G>T | |
19 | g.38499942C>A | CA405669227 | RYR1 | c.7249C>A (p.His2417Asn) c.7246C>A (p.His2416Asn) c.701C>A n.7332C>A | |
19 | g.38499942C>G | CA405669223 | RYR1 | c.7249C>G (p.His2417Asp) c.7246C>G (p.His2416Asp) c.701C>G n.7332C>G | |
19 | g.38499942C>T | CA405669224 | RYR1 | c.7249C>T (p.His2417Tyr) c.7246C>T (p.His2416Tyr) c.701C>T n.7332C>T | |
19 | g.38499943A>C | CA405669239 | RYR1 | c.7250A>C (p.His2417Pro) c.7247A>C (p.His2416Pro) c.702A>C n.7333A>C | |
19 | g.38499943A>G | CA405669241 | RYR1 | c.7250A>G (p.His2417Arg) c.7247A>G (p.His2416Arg) c.702A>G n.7333A>G | COSMIC |
19 | g.38499943A>T | CA405669244 | RYR1 | c.7250A>T (p.His2417Leu) c.7247A>T (p.His2416Leu) c.702A>T n.7333A>T | |
19 | g.38499944C>A | CA308109782 | RYR1 | c.7251C>A (p.His2417Gln) c.7248C>A (p.His2416Gln) c.703C>A n.7334C>A | dbSNP gnomAD v4 |
19 | g.38499944C= | CA2335053021 | RYR1 | c.7251C= (p.His2417=) c.7248C= (p.His2416=) c.703C= n.7334C= | |
19 | g.38499944C>G | CA405669252 | RYR1 | c.7251C>G (p.His2417Gln) c.7248C>G (p.His2416Gln) c.703C>G n.7334C>G | |
19 | g.38499944C>T | CA507353728 | RYR1 | c.7251C>T (p.His2417=) c.7248C>T (p.His2416=) c.703C>T n.7334C>T | dbSNP gnomAD v4 |
19 | g.38499945C>A | CA405669255 | RYR1 | c.7252C>A (p.Leu2418Met) c.7249C>A (p.Leu2417Met) c.704C>A n.7335C>A | |
19 | g.38499945C= | CA2335053022 | RYR1 | c.7252C= (p.Leu2418=) c.7249C= (p.Leu2417=) c.704C= n.7335C= | |
19 | g.38499945C>G | CA405669256 | RYR1 | c.7252C>G (p.Leu2418Val) c.7249C>G (p.Leu2417Val) c.704C>G n.7335C>G | ClinVar dbSNP |
19 | g.38499945C>T | CA069367 | RYR1 | c.7252C>T (p.Leu2418=) c.7249C>T (p.Leu2417=) c.704C>T n.7335C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499946T>A | CA405669262 | RYR1 | c.7253T>A (p.Leu2418Gln) c.7250T>A (p.Leu2417Gln) c.705T>A n.7336T>A | |
19 | g.38499946T>C | CA069388 | RYR1 | c.7253T>C (p.Leu2418Pro) c.7250T>C (p.Leu2417Pro) c.705T>C n.7336T>C | dbSNP ExAC gnomAD v4 |
19 | g.38499946T>G | CA405669265 | RYR1 | c.7253T>G (p.Leu2418Arg) c.7250T>G (p.Leu2417Arg) c.705T>G n.7336T>G | |
19 | g.38499946T= | CA2335053023 | RYR1 | c.7253T= (p.Leu2418=) c.7250T= (p.Leu2417=) c.705T= n.7336T= | |
19 | g.38499947G>A | CA082375 | RYR1 | c.7254G>A (p.Leu2418=) c.7251G>A (p.Leu2417=) c.706G>A n.7337G>A | |
19 | g.38499947G>C | CA082376 | RYR1 | c.7254G>C (p.Leu2418=) c.7251G>C (p.Leu2417=) c.706G>C n.7337G>C | |
19 | g.38499947G= | CA2335053024 | RYR1 | c.7254G= (p.Leu2418=) c.7251G= (p.Leu2417=) c.706G= n.7337G= | |
19 | g.38499947G>T | CA507353731 | RYR1 | c.7254G>T (p.Leu2418=) c.7251G>T (p.Leu2417=) c.706G>T n.7337G>T | dbSNP |
19 | g.38499948G>A | CA405669273 | RYR1 | c.7255G>A (p.Gly2419Arg) c.7252G>A (p.Gly2418Arg) c.707G>A n.7338G>A | |
19 | g.38499948G>C | CA405669270 | RYR1 | c.7255G>C (p.Gly2419Arg) c.7252G>C (p.Gly2418Arg) c.707G>C n.7338G>C | |
19 | g.38499948G>T | CA405669268 | RYR1 | c.7255G>T (p.Gly2419Ter) c.7252G>T (p.Gly2418Ter) c.707G>T n.7338G>T | COSMIC |
19 | g.38499949G>A | CA308109784 | RYR1 | c.7256G>A (p.Gly2419Glu) c.7253G>A (p.Gly2418Glu) c.708G>A n.7339G>A | dbSNP |
19 | g.38499949G>C | CA405669277 | RYR1 | c.7256G>C (p.Gly2419Ala) c.7253G>C (p.Gly2418Ala) c.708G>C n.7339G>C | |
19 | g.38499949G= | CA2335053025 | RYR1 | c.7256G= (p.Gly2419=) c.7253G= (p.Gly2418=) c.708G= n.7339G= | |
19 | g.38499949G>T | CA405669276 | RYR1 | c.7256G>T (p.Gly2419Val) c.7253G>T (p.Gly2418Val) c.708G>T n.7339G>T | |
19 | g.38499950A>C | CA507353735 | RYR1 | c.7257A>C (p.Gly2419=) c.7254A>C (p.Gly2418=) c.709A>C n.7340A>C | |
19 | g.38499950A>G | CA507353736 | RYR1 | c.7257A>G (p.Gly2419=) c.7254A>G (p.Gly2418=) c.709A>G n.7340A>G | |
19 | g.38499950A>T | CA507353737 | RYR1 | c.7257A>T (p.Gly2419=) c.7254A>T (p.Gly2418=) c.709A>T n.7340A>T | |
19 | g.38499951C>A | CA405669291 | RYR1 | c.7258C>A (p.His2420Asn) c.7255C>A (p.His2419Asn) c.710C>A n.7341C>A | COSMIC |
19 | g.38499951C>G | CA405669297 | RYR1 | c.7258C>G (p.His2420Asp) c.7255C>G (p.His2419Asp) c.710C>G n.7341C>G | |
19 | g.38499951C>T | CA405669293 | RYR1 | c.7258C>T (p.His2420Tyr) c.7255C>T (p.His2419Tyr) c.710C>T n.7341C>T | |
19 | g.38499952A= | CA2335053026 | RYR1 | c.7259A= (p.His2420=) c.7256A= (p.His2419=) c.711A= n.7342A= | |
19 | g.38499952A>C | CA405669301 | RYR1 | c.7259A>C (p.His2420Pro) c.7256A>C (p.His2419Pro) c.711A>C n.7342A>C | |
19 | g.38499952A>G | CA405669307 | RYR1 | c.7259A>G (p.His2420Arg) c.7256A>G (p.His2419Arg) c.711A>G n.7342A>G | |
19 | g.38499952A>T | CA405669305 | RYR1 | c.7259A>T (p.His2420Leu) c.7256A>T (p.His2419Leu) c.711A>T n.7342A>T | dbSNP |
19 | g.38499953C>A | CA405669308 | RYR1 | c.7260C>A (p.His2420Gln) c.7257C>A (p.His2419Gln) c.712C>A n.7343C>A | |
19 | g.38499953C= | CA2335053027 | RYR1 | c.7260C= (p.His2420=) c.7257C= (p.His2419=) c.712C= n.7343C= | |
19 | g.38499953C>G | CA405669314 | RYR1 | c.7260C>G (p.His2420Gln) c.7257C>G (p.His2419Gln) c.712C>G n.7343C>G | |
19 | g.38499953C>T | CA024725 | RYR1 | c.7260C>T (p.His2420=) c.7257C>T (p.His2419=) c.712C>T n.7343C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499954G>A | CA069410 | RYR1 | c.7261G>A (p.Ala2421Thr) c.7258G>A (p.Ala2420Thr) c.713G>A n.7344G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499954G>C | CA024730 | RYR1 | c.7261G>C (p.Ala2421Pro) c.7258G>C (p.Ala2420Pro) c.713G>C n.7344G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499954G= | CA2335053028 | RYR1 | c.7261G= (p.Ala2421=) c.7258G= (p.Ala2420=) c.713G= n.7344G= | |
19 | g.38499954G>T | CA069413 | RYR1 | c.7261G>T (p.Ala2421Ser) c.7258G>T (p.Ala2420Ser) c.713G>T n.7344G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499955C>A | CA405669322 | RYR1 | c.7262C>A (p.Ala2421Asp) c.7259C>A (p.Ala2420Asp) c.714C>A n.7345C>A | |
19 | g.38499955C>G | CA405669324 | RYR1 | c.7262C>G (p.Ala2421Gly) c.7259C>G (p.Ala2420Gly) c.714C>G n.7345C>G | |
19 | g.38499955C>T | CA405669327 | RYR1 | c.7262C>T (p.Ala2421Val) c.7259C>T (p.Ala2420Val) c.714C>T n.7345C>T | |
19 | g.38499955_38499956insGAT | CA2584900090 | RYR1 | c.7262_7263insGAT (p.Ala2421_Ile2422insIle) c.7259_7260insGAT (p.Ala2420_Ile2421insIle) c.714_715insGAT n.7345_7346insGAT | gnomAD v4 |
19 | g.38499956C>A | CA507353744 | RYR1 | c.7263C>A (p.Ala2421=) c.7260C>A (p.Ala2420=) c.715C>A n.7346C>A | |
19 | g.38499956C>G | CA507353745 | RYR1 | c.7263C>G (p.Ala2421=) c.7260C>G (p.Ala2420=) c.715C>G n.7346C>G | |
19 | g.38499956C>T | CA082388 | RYR1 | c.7263C>T (p.Ala2421=) c.7260C>T (p.Ala2420=) c.715C>T n.7346C>T | |
19 | g.38499957A= | CA2335053029 | RYR1 | c.7264A= (p.Ile2422=) c.7261A= (p.Ile2421=) c.716A= n.7347A= | |
19 | g.38499957A>C | CA405669330 | RYR1 | c.7264A>C (p.Ile2422Leu) c.7261A>C (p.Ile2421Leu) c.716A>C n.7347A>C | |
19 | g.38499957A>G | CA069434 | RYR1 | c.7264A>G (p.Ile2422Val) c.7261A>G (p.Ile2421Val) c.716A>G n.7347A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499957A>T | CA405669334 | RYR1 | c.7264A>T (p.Ile2422Phe) c.7261A>T (p.Ile2421Phe) c.716A>T n.7347A>T | |
19 | g.38499958T>A | CA405669337 | RYR1 | c.7265T>A (p.Ile2422Asn) c.7262T>A (p.Ile2421Asn) c.717T>A n.7348T>A | |
19 | g.38499958T>C | CA405669341 | RYR1 | c.7265T>C (p.Ile2422Thr) c.7262T>C (p.Ile2421Thr) c.717T>C n.7348T>C | dbSNP |
19 | g.38499958T>G | CA405669344 | RYR1 | c.7265T>G (p.Ile2422Ser) c.7262T>G (p.Ile2421Ser) c.717T>G n.7348T>G | |
19 | g.38499958T= | CA2335053030 | RYR1 | c.7265T= (p.Ile2422=) c.7262T= (p.Ile2421=) c.717T= n.7348T= | |
19 | g.38499958_38499959insGTCCTTCTATGCCGC | CA2584900091 | RYR1 | c.7265_7266insGTCCTTCTATGCCGC (p.Ile2422delinsMetSerPheTyrAlaAla) c.7262_7263insGTCCTTCTATGCCGC (p.Ile2421delinsMetSerPheTyrAlaAla) c.717_718insGTCCTTCTATGCCGC n.7348_7349insGTCCTTCTATGCCGC | gnomAD v4 |
19 | g.38499959C>A | CA507353747 | RYR1 | c.7266C>A (p.Ile2422=) c.7263C>A (p.Ile2421=) c.718C>A n.7349C>A | |
19 | g.38499959C>G | CA405669347 | RYR1 | c.7266C>G (p.Ile2422Met) c.7263C>G (p.Ile2421Met) c.718C>G n.7349C>G | |
19 | g.38499959C>T | CA507353748 | RYR1 | c.7266C>T (p.Ile2422=) c.7263C>T (p.Ile2421=) c.718C>T n.7349C>T | |
19 | g.38499960A>C | CA405669353 | RYR1 | c.7267A>C (p.Met2423Leu) c.7264A>C (p.Met2422Leu) c.719A>C n.7350A>C | |
19 | g.38499960A>G | CA082391 | RYR1 | c.7267A>G (p.Met2423Val) c.7264A>G (p.Met2422Val) c.719A>G n.7350A>G | gnomAD v4 |
19 | g.38499960A>T | CA405669350 | RYR1 | c.7267A>T (p.Met2423Leu) c.7264A>T (p.Met2422Leu) c.719A>T n.7350A>T | |
19 | g.38499961T>A | CA024732 | RYR1 | c.7268T>A (p.Met2423Lys) c.7265T>A (p.Met2422Lys) c.720T>A n.7351T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499961T>C | CA405669357 | RYR1 | c.7268T>C (p.Met2423Thr) c.7265T>C (p.Met2422Thr) c.720T>C n.7351T>C | gnomAD v4 |
19 | g.38499961T>G | CA405669358 | RYR1 | c.7268T>G (p.Met2423Arg) c.7265T>G (p.Met2422Arg) c.720T>G n.7351T>G | |
19 | g.38499961T= | CA2335053031 | RYR1 | c.7268T= (p.Met2423=) c.7265T= (p.Met2422=) c.720T= n.7351T= | |
19 | g.38499962G>A | CA405669361 | RYR1 | c.7269G>A (p.Met2423Ile) c.7266G>A (p.Met2422Ile) c.721G>A n.7352G>A | |
19 | g.38499962G>C | CA405669363 | RYR1 | c.7269G>C (p.Met2423Ile) c.7266G>C (p.Met2422Ile) c.721G>C n.7352G>C | |
19 | g.38499962G>T | CA405669364 | RYR1 | c.7269G>T (p.Met2423Ile) c.7266G>T (p.Met2422Ile) c.721G>T n.7352G>T | |
19 | g.38499963T>A | CA405669366 | RYR1 | c.7270T>A (p.Ser2424Thr) c.7267T>A (p.Ser2423Thr) c.722T>A n.7353T>A | |
19 | g.38499963T>C | CA405669367 | RYR1 | c.7270T>C (p.Ser2424Pro) c.7267T>C (p.Ser2423Pro) c.722T>C n.7353T>C | |
19 | g.38499963T>G | CA405669369 | RYR1 | c.7270T>G (p.Ser2424Ala) c.7267T>G (p.Ser2423Ala) c.722T>G n.7353T>G | |
19 | g.38499964C>A | CA405669373 | RYR1 | c.7271C>A (p.Ser2424Tyr) c.7268C>A (p.Ser2423Tyr) c.723C>A n.7354C>A | |
19 | g.38499964C>G | CA405669374 | RYR1 | c.7271C>G (p.Ser2424Cys) c.7268C>G (p.Ser2423Cys) c.723C>G n.7354C>G | |
19 | g.38499964C>T | CA405669377 | RYR1 | c.7271C>T (p.Ser2424Phe) c.7268C>T (p.Ser2423Phe) c.723C>T n.7354C>T | |
19 | g.38499964_38499967delinsCCTT | CA2335053032 | RYR1 | c.7271_7274delinsCCTT (p.Ser2424=) c.7268_7271delinsCCTT (p.Ser2423=) c.723_726delinsCCTT n.7354_7357delinsCCTT | |
19 | g.38499965C>A | CA507353753 | RYR1 | c.7272C>A (p.Ser2424=) c.7269C>A (p.Ser2423=) c.724C>A n.7355C>A | |
19 | g.38499965C>G | CA507353755 | RYR1 | c.7272C>G (p.Ser2424=) c.7269C>G (p.Ser2423=) c.724C>G n.7355C>G | |
19 | g.38499965C>T | CA507353754 | RYR1 | c.7272C>T (p.Ser2424=) c.7269C>T (p.Ser2423=) c.724C>T n.7355C>T | |
19 | g.38499967_38499969del | CA882051645 | RYR1 | c.7274_7276del (p.Phe2425del) c.7271_7273del (p.Phe2424del) c.726_728del n.7357_7359del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499966T>A | CA405669382 | RYR1 | c.7273T>A (p.Phe2425Ile) c.7270T>A (p.Phe2424Ile) c.725T>A n.7356T>A | |
19 | g.38499966T>C | CA405669388 | RYR1 | c.7273T>C (p.Phe2425Leu) c.7270T>C (p.Phe2424Leu) c.725T>C n.7356T>C | |
19 | g.38499966T>G | CA405669384 | RYR1 | c.7273T>G (p.Phe2425Val) c.7270T>G (p.Phe2424Val) c.725T>G n.7356T>G | |
19 | g.38499967T>A | CA405669390 | RYR1 | c.7274T>A (p.Phe2425Tyr) c.7271T>A (p.Phe2424Tyr) c.726T>A n.7357T>A | |
19 | g.38499967T>C | CA405669395 | RYR1 | c.7274T>C (p.Phe2425Ser) c.7271T>C (p.Phe2424Ser) c.726T>C n.7357T>C | |
19 | g.38499967T>G | CA405669396 | RYR1 | c.7274T>G (p.Phe2425Cys) c.7271T>G (p.Phe2424Cys) c.726T>G n.7357T>G | |
19 | g.38499968C>A | CA405669398 | RYR1 | c.7275C>A (p.Phe2425Leu) c.7272C>A (p.Phe2424Leu) c.727C>A n.7358C>A | |
19 | g.38499968C>G | CA405669399 | RYR1 | c.7275C>G (p.Phe2425Leu) c.7272C>G (p.Phe2424Leu) c.727C>G n.7358C>G | |
19 | g.38499968C>T | CA507353759 | RYR1 | c.7275C>T (p.Phe2425=) c.7272C>T (p.Phe2424=) c.727C>T n.7358C>T | ClinVar gnomAD v4 |
19 | g.38499969T>A | CA405669403 | RYR1 | c.7276T>A (p.Tyr2426Asn) c.7273T>A (p.Tyr2425Asn) c.728T>A n.7359T>A | |
19 | g.38499969T>C | CA405669407 | RYR1 | c.7276T>C (p.Tyr2426His) c.7273T>C (p.Tyr2425His) c.728T>C n.7359T>C | |
19 | g.38499969T>G | CA405669410 | RYR1 | c.7276T>G (p.Tyr2426Asp) c.7273T>G (p.Tyr2425Asp) c.728T>G n.7359T>G | |
19 | g.38499970del | CA2814346208 | RYR1 | c.7277del (p.Tyr2426LeufsTer4) c.7274del (p.Tyr2425LeufsTer4) c.729del n.7360del | |
19 | g.38499970A= | CA2335053033 | RYR1 | c.7277A= (p.Tyr2426=) c.7274A= (p.Tyr2425=) c.729A= n.7360A= | |
19 | g.38499970A>C | CA405669413 | RYR1 | c.7277A>C (p.Tyr2426Ser) c.7274A>C (p.Tyr2425Ser) c.729A>C n.7360A>C | gnomAD v4 |
19 | g.38499970A>G | CA405669417 | RYR1 | c.7277A>G (p.Tyr2426Cys) c.7274A>G (p.Tyr2425Cys) c.729A>G n.7360A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499970A>T | CA405669419 | RYR1 | c.7277A>T (p.Tyr2426Phe) c.7274A>T (p.Tyr2425Phe) c.729A>T n.7360A>T | |
19 | g.38499971T>A | CA405669421 | RYR1 | c.7278T>A (p.Tyr2426Ter) c.7275T>A (p.Tyr2425Ter) c.730T>A n.7361T>A | |
19 | g.38499971T>C | CA507353761 | RYR1 | c.7278T>C (p.Tyr2426=) c.7275T>C (p.Tyr2425=) c.730T>C n.7361T>C | ClinVar dbSNP gnomAD v4 |
19 | g.38499971T>G | CA405669422 | RYR1 | c.7278T>G (p.Tyr2426Ter) c.7275T>G (p.Tyr2425Ter) c.730T>G n.7361T>G | |
19 | g.38499972G>A | CA405669427 | RYR1 | c.7279G>A (p.Ala2427Thr) c.7276G>A (p.Ala2426Thr) c.731G>A n.7362G>A | |
19 | g.38499972G>C | CA405669432 | RYR1 | c.7279G>C (p.Ala2427Pro) c.7276G>C (p.Ala2426Pro) c.731G>C n.7362G>C | |
19 | g.38499972G>T | CA405669428 | RYR1 | c.7279G>T (p.Ala2427Ser) c.7276G>T (p.Ala2426Ser) c.731G>T n.7362G>T | |
19 | g.38499973C>A | CA405669437 | RYR1 | c.7280C>A (p.Ala2427Asp) c.7277C>A (p.Ala2426Asp) c.732C>A n.7363C>A | |
19 | g.38499973C>G | CA405669441 | RYR1 | c.7280C>G (p.Ala2427Gly) c.7277C>G (p.Ala2426Gly) c.732C>G n.7363C>G | |
19 | g.38499973C>T | CA405669443 | RYR1 | c.7280C>T (p.Ala2427Val) c.7277C>T (p.Ala2426Val) c.732C>T n.7363C>T | gnomAD v4 COSMIC |
19 | g.38499974C>A | CA507353765 | RYR1 | c.7281C>A (p.Ala2427=) c.7278C>A (p.Ala2426=) c.733C>A n.7364C>A | |
19 | g.38499974C= | CA2335053034 | RYR1 | c.7281C= (p.Ala2427=) c.7278C= (p.Ala2426=) c.733C= n.7364C= | |
19 | g.38499974C>G | CA507353766 | RYR1 | c.7281C>G (p.Ala2427=) c.7278C>G (p.Ala2426=) c.733C>G n.7364C>G | |
19 | g.38499974C>T | CA024735 | RYR1 | c.7281C>T (p.Ala2427=) c.7278C>T (p.Ala2426=) c.733C>T n.7364C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499975G>A | CA024738 | RYR1 | c.7282G>A (p.Ala2428Thr) c.7279G>A (p.Ala2427Thr) c.734G>A n.7365G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499975G>C | CA405669465 | RYR1 | c.7282G>C (p.Ala2428Pro) c.7279G>C (p.Ala2427Pro) c.734G>C n.7365G>C | |
19 | g.38499975G= | CA2335053035 | RYR1 | c.7282G= (p.Ala2428=) c.7279G= (p.Ala2427=) c.734G= n.7365G= | |
19 | g.38499975G>T | CA405669469 | RYR1 | c.7282G>T (p.Ala2428Ser) c.7279G>T (p.Ala2427Ser) c.734G>T n.7365G>T | ClinVar dbSNP |
19 | g.38499976C>A | CA405669470 | RYR1 | c.7283C>A (p.Ala2428Asp) c.7280C>A (p.Ala2427Asp) c.735C>A n.7366C>A | |
19 | g.38499976C>G | CA405669472 | RYR1 | c.7283C>G (p.Ala2428Gly) c.7280C>G (p.Ala2427Gly) c.735C>G n.7366C>G | |
19 | g.38499976C>T | CA405669477 | RYR1 | c.7283C>T (p.Ala2428Val) c.7280C>T (p.Ala2427Val) c.735C>T n.7366C>T | |
19 | g.38499977C>A | CA507353768 | RYR1 | c.7284C>A (p.Ala2428=) c.7281C>A (p.Ala2427=) c.736C>A n.7367C>A | |
19 | g.38499977C= | CA2335053036 | RYR1 | c.7284C= (p.Ala2428=) c.7281C= (p.Ala2427=) c.736C= n.7367C= | |
19 | g.38499977C>G | CA507353769 | RYR1 | c.7284C>G (p.Ala2428=) c.7281C>G (p.Ala2427=) c.736C>G n.7367C>G | |
19 | g.38499977C>T | CA082393 | RYR1 | c.7284C>T (p.Ala2428=) c.7281C>T (p.Ala2427=) c.736C>T n.7367C>T | dbSNP gnomAD v4 |
19 | g.38499978T>A | CA405669482 | RYR1 | c.7285T>A (p.Leu2429Met) c.7282T>A (p.Leu2428Met) c.737T>A n.7368T>A | |
19 | g.38499978T>C | CA507353770 | RYR1 | c.7285T>C (p.Leu2429=) c.7282T>C (p.Leu2428=) c.737T>C n.7368T>C | |
19 | g.38499978T>G | CA405669479 | RYR1 | c.7285T>G (p.Leu2429Val) c.7282T>G (p.Leu2428Val) c.737T>G n.7368T>G | |
19 | g.38499979T>A | CA405669484 | RYR1 | c.7286T>A (p.Leu2429Ter) c.7283T>A (p.Leu2428Ter) c.738T>A n.7369T>A | |
19 | g.38499979T>C | CA405669487 | RYR1 | c.7286T>C (p.Leu2429Ser) c.7283T>C (p.Leu2428Ser) c.738T>C n.7369T>C | |
19 | g.38499979T>G | CA405669489 | RYR1 | c.7286T>G (p.Leu2429Trp) c.7283T>G (p.Leu2428Trp) c.738T>G n.7369T>G | gnomAD v4 |
19 | g.38499980G>A | CA507353772 | RYR1 | c.7287G>A (p.Leu2429=) c.7284G>A (p.Leu2428=) c.739G>A n.7370G>A | gnomAD v4 |
19 | g.38499980G>C | CA405669491 | RYR1 | c.7287G>C (p.Leu2429Phe) c.7284G>C (p.Leu2428Phe) c.739G>C n.7370G>C | |
19 | g.38499980G>T | CA405669493 | RYR1 | c.7287G>T (p.Leu2429Phe) c.7284G>T (p.Leu2428Phe) c.739G>T n.7370G>T | |
19 | g.38499981A>C | CA405669497 | RYR1 | c.7288A>C (p.Ile2430Leu) c.7285A>C (p.Ile2429Leu) c.740A>C n.7371A>C | |
19 | g.38499981A>G | CA405669506 | RYR1 | c.7288A>G (p.Ile2430Val) c.7285A>G (p.Ile2429Val) c.740A>G n.7371A>G | COSMIC |
19 | g.38499981A>T | CA405669509 | RYR1 | c.7288A>T (p.Ile2430Phe) c.7285A>T (p.Ile2429Phe) c.740A>T n.7371A>T | |
19 | g.38499982T>A | CA405669511 | RYR1 | c.7289T>A (p.Ile2430Asn) c.7286T>A (p.Ile2429Asn) c.741T>A n.7372T>A | |
19 | g.38499982T>C | CA405669512 | RYR1 | c.7289T>C (p.Ile2430Thr) c.7286T>C (p.Ile2429Thr) c.741T>C n.7372T>C | |
19 | g.38499982T>G | CA405669513 | RYR1 | c.7289T>G (p.Ile2430Ser) c.7286T>G (p.Ile2429Ser) c.741T>G n.7372T>G |