Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38499773_38499783del | CA2584900040 | RYR1 | c.7166_7176del (p.Asp2389GlyfsTer16) c.7163_7173del (p.Asp2388GlyfsTer16) c.618_628del n.7249_7259del | gnomAD v4 |
19 | g.38499780G>A | CA069210 | RYR1 | c.7173G>A (p.Ala2391=) c.7170G>A (p.Ala2390=) c.625G>A n.7256G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499780G>C | CA507353907 | RYR1 | c.7173G>C (p.Ala2391=) c.7170G>C (p.Ala2390=) c.625G>C n.7256G>C | |
19 | g.38499780G= | CA2335052931 | RYR1 | c.7173G= (p.Ala2391=) c.7170G= (p.Ala2390=) c.625G= n.7256G= | |
19 | g.38499780G>T | CA507353906 | RYR1 | c.7173G>T (p.Ala2391=) c.7170G>T (p.Ala2390=) c.625G>T n.7256G>T | gnomAD v4 |
19 | g.38499781A>C | CA507353908 | RYR1 | c.7174A>C (p.Arg2392=) c.7171A>C (p.Arg2391=) c.626A>C n.7257A>C | |
19 | g.38499781A>G | CA405668631 | RYR1 | c.7174A>G (p.Arg2392Gly) c.7171A>G (p.Arg2391Gly) c.626A>G n.7257A>G | |
19 | g.38499781A>T | CA405668634 | RYR1 | c.7174A>T (p.Arg2392Trp) c.7171A>T (p.Arg2391Trp) c.626A>T n.7257A>T | |
19 | g.38499782G>A | CA405668640 | RYR1 | c.7175G>A (p.Arg2392Lys) c.7172G>A (p.Arg2391Lys) c.627G>A n.7258G>A | dbSNP gnomAD v2 |
19 | g.38499782G>C | CA405668639 | RYR1 | c.7175G>C (p.Arg2392Thr) c.7172G>C (p.Arg2391Thr) c.627G>C n.7258G>C | |
19 | g.38499782G= | CA2335052932 | RYR1 | c.7175G= (p.Arg2392=) c.7172G= (p.Arg2391=) c.627G= n.7258G= | |
19 | g.38499782G>T | CA405668637 | RYR1 | c.7175G>T (p.Arg2392Met) c.7172G>T (p.Arg2391Met) c.627G>T n.7258G>T | gnomAD v4 |
19 | g.38499784del | CA2584900041 | RYR1 | c.7177del (p.Asp2393MetfsTer?) c.7174del (p.Asp2392MetfsTer?) c.629del n.7260del | gnomAD v4 |
19 | g.38499783G>A | CA082349 | RYR1 | c.7176G>A (p.Arg2392=) c.7173G>A (p.Arg2391=) c.628G>A n.7259G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499783G>C | CA405668641 | RYR1 | c.7176G>C (p.Arg2392Ser) c.7173G>C (p.Arg2391Ser) c.628G>C n.7259G>C | |
19 | g.38499783G= | CA2335052933 | RYR1 | c.7176G= (p.Arg2392=) c.7173G= (p.Arg2391=) c.628G= n.7259G= | |
19 | g.38499783G>T | CA405668642 | RYR1 | c.7176G>T (p.Arg2392Ser) c.7173G>T (p.Arg2391Ser) c.628G>T n.7259G>T | gnomAD v4 |
19 | g.38499784G>A | CA405668643 | RYR1 | c.7177G>A (p.Asp2393Asn) c.7174G>A (p.Asp2392Asn) c.629G>A n.7260G>A | |
19 | g.38499784G>C | CA405668645 | RYR1 | c.7177G>C (p.Asp2393His) c.7174G>C (p.Asp2392His) c.629G>C n.7260G>C | |
19 | g.38499784G= | CA2335052934 | RYR1 | c.7177G= (p.Asp2393=) c.7174G= (p.Asp2392=) c.629G= n.7260G= | |
19 | g.38499784G>T | CA405668647 | RYR1 | c.7177G>T (p.Asp2393Tyr) c.7174G>T (p.Asp2392Tyr) c.629G>T n.7260G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499785A= | CA2335052935 | RYR1 | c.7178A= (p.Asp2393=) c.7175A= (p.Asp2392=) c.630A= n.7261A= | |
19 | g.38499785A>C | CA069214 | RYR1 | c.7178A>C (p.Asp2393Ala) c.7175A>C (p.Asp2392Ala) c.630A>C n.7261A>C | ClinVar dbSNP ExAC gnomAD v4 |
19 | g.38499785A>G | CA405668651 | RYR1 | c.7178A>G (p.Asp2393Gly) c.7175A>G (p.Asp2392Gly) c.630A>G n.7261A>G | gnomAD v4 |
19 | g.38499785A>T | CA405668661 | RYR1 | c.7178A>T (p.Asp2393Val) c.7175A>T (p.Asp2392Val) c.630A>T n.7261A>T | |
19 | g.38499786T>A | CA405668664 | RYR1 | c.7179T>A (p.Asp2393Glu) c.7176T>A (p.Asp2392Glu) c.631T>A n.7262T>A | |
19 | g.38499786T>C | CA507353909 | RYR1 | c.7179T>C (p.Asp2393=) c.7176T>C (p.Asp2392=) c.631T>C n.7262T>C | gnomAD v4 |
19 | g.38499786T>G | CA405668665 | RYR1 | c.7179T>G (p.Asp2393Glu) c.7176T>G (p.Asp2392Glu) c.631T>G n.7262T>G | |
19 | g.38499787G>A | CA405668677 | RYR1 | c.7180G>A (p.Gly2394Ser) c.7177G>A (p.Gly2393Ser) c.632G>A n.7263G>A | dbSNP gnomAD v4 |
19 | g.38499787G>C | CA405668680 | RYR1 | c.7180G>C (p.Gly2394Arg) c.7177G>C (p.Gly2393Arg) c.632G>C n.7263G>C | |
19 | g.38499787G= | CA2335052936 | RYR1 | c.7180G= (p.Gly2394=) c.7177G= (p.Gly2393=) c.632G= n.7263G= | |
19 | g.38499787G>T | CA405668682 | RYR1 | c.7180G>T (p.Gly2394Cys) c.7177G>T (p.Gly2393Cys) c.632G>T n.7263G>T | ClinVar |
19 | g.38499788G>A | CA405668700 | RYR1 | c.7181G>A (p.Gly2394Asp) c.7178G>A (p.Gly2393Asp) c.633G>A n.7264G>A | gnomAD v4 |
19 | g.38499788G>C | CA405668690 | RYR1 | c.7181G>C (p.Gly2394Ala) c.7178G>C (p.Gly2393Ala) c.633G>C n.7264G>C | |
19 | g.38499788G>T | CA405668694 | RYR1 | c.7181G>T (p.Gly2394Val) c.7178G>T (p.Gly2393Val) c.633G>T n.7264G>T | gnomAD v4 |
19 | g.38499789C>A | CA507353912 | RYR1 | c.7182C>A (p.Gly2394=) c.7179C>A (p.Gly2393=) c.634C>A n.7265C>A | |
19 | g.38499789C>G | CA507353910 | RYR1 | c.7182C>G (p.Gly2394=) c.7179C>G (p.Gly2393=) c.634C>G n.7265C>G | |
19 | g.38499789C>T | CA507353911 | RYR1 | c.7182C>T (p.Gly2394=) c.7179C>T (p.Gly2393=) c.634C>T n.7265C>T | gnomAD v4 |
19 | g.38499790C>A | CA405668703 | RYR1 | c.7183C>A (p.Pro2395Thr) c.7180C>A (p.Pro2394Thr) c.635C>A n.7266C>A | |
19 | g.38499790C>G | CA405668704 | RYR1 | c.7183C>G (p.Pro2395Ala) c.7180C>G (p.Pro2394Ala) c.635C>G n.7266C>G | gnomAD v4 |
19 | g.38499790C>T | CA405668714 | RYR1 | c.7183C>T (p.Pro2395Ser) c.7180C>T (p.Pro2394Ser) c.635C>T n.7266C>T | |
19 | g.38499791C>A | CA405668717 | RYR1 | c.7184C>A (p.Pro2395Gln) c.7181C>A (p.Pro2394Gln) c.636C>A n.7267C>A | gnomAD v4 |
19 | g.38499791C>G | CA405668720 | RYR1 | c.7184C>G (p.Pro2395Arg) c.7181C>G (p.Pro2394Arg) c.636C>G n.7267C>G | |
19 | g.38499791C>T | CA405668724 | RYR1 | c.7184C>T (p.Pro2395Leu) c.7181C>T (p.Pro2394Leu) c.636C>T n.7267C>T | gnomAD v4 |
19 | g.38499792A>C | CA507353913 | RYR1 | c.7185A>C (p.Pro2395=) c.7182A>C (p.Pro2394=) c.637A>C n.7268A>C | |
19 | g.38499792A>G | CA507353914 | RYR1 | c.7185A>G (p.Pro2395=) c.7182A>G (p.Pro2394=) c.637A>G n.7268A>G | ClinVar |
19 | g.38499792A>T | CA507353915 | RYR1 | c.7185A>T (p.Pro2395=) c.7182A>T (p.Pro2394=) c.637A>T n.7268A>T | |
19 | g.38499793G>A | CA405668727 | RYR1 | c.7186G>A (p.Gly2396Ser) c.7183G>A (p.Gly2395Ser) c.638G>A n.7269G>A | |
19 | g.38499793G>C | CA405668731 | RYR1 | c.7186G>C (p.Gly2396Arg) c.7183G>C (p.Gly2395Arg) c.638G>C n.7269G>C | |
19 | g.38499793G>T | CA405668736 | RYR1 | c.7186G>T (p.Gly2396Cys) c.7183G>T (p.Gly2395Cys) c.638G>T n.7269G>T | gnomAD v4 |
19 | g.38499794G>A | CA069215 | RYR1 | c.7187G>A (p.Gly2396Asp) c.7184G>A (p.Gly2395Asp) c.639G>A n.7270G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499794G>C | CA405668745 | RYR1 | c.7187G>C (p.Gly2396Ala) c.7184G>C (p.Gly2395Ala) c.639G>C n.7270G>C | ClinVar |
19 | g.38499794G= | CA2335052937 | RYR1 | c.7187G= (p.Gly2396=) c.7184G= (p.Gly2395=) c.639G= n.7270G= | |
19 | g.38499794G>T | CA405668750 | RYR1 | c.7187G>T (p.Gly2396Val) c.7184G>T (p.Gly2395Val) c.639G>T n.7270G>T | gnomAD v4 |
19 | g.38499795C>A | CA507353918 | RYR1 | c.7188C>A (p.Gly2396=) c.7185C>A (p.Gly2395=) c.640C>A n.7271C>A | |
19 | g.38499795C>G | CA507353916 | RYR1 | c.7188C>G (p.Gly2396=) c.7185C>G (p.Gly2395=) c.640C>G n.7271C>G | |
19 | g.38499795C>T | CA507353917 | RYR1 | c.7188C>T (p.Gly2396=) c.7185C>T (p.Gly2395=) c.640C>T n.7271C>T | |
19 | g.38499796A>C | CA405668755 | RYR1 | c.7189A>C (p.Ile2397Leu) c.7186A>C (p.Ile2396Leu) c.641A>C n.7272A>C | |
19 | g.38499796A>G | CA405668754 | RYR1 | c.7189A>G (p.Ile2397Val) c.7186A>G (p.Ile2396Val) c.641A>G n.7272A>G | ClinVar gnomAD v4 |
19 | g.38499796A>T | CA405668753 | RYR1 | c.7189A>T (p.Ile2397Phe) c.7186A>T (p.Ile2396Phe) c.641A>T n.7272A>T | |
19 | g.38499797T>A | CA405668757 | RYR1 | c.7190T>A (p.Ile2397Asn) c.7187T>A (p.Ile2396Asn) c.642T>A n.7273T>A | gnomAD v4 |
19 | g.38499797T>C | CA405668756 | RYR1 | c.7190T>C (p.Ile2397Thr) c.7187T>C (p.Ile2396Thr) c.642T>C n.7273T>C | |
19 | g.38499797T>G | CA405668758 | RYR1 | c.7190T>G (p.Ile2397Ser) c.7187T>G (p.Ile2396Ser) c.642T>G n.7273T>G | |
19 | g.38499798C>A | CA507353919 | RYR1 | c.7191C>A (p.Ile2397=) c.7188C>A (p.Ile2396=) c.643C>A n.7274C>A | |
19 | g.38499798C>G | CA405668761 | RYR1 | c.7191C>G (p.Ile2397Met) c.7188C>G (p.Ile2396Met) c.643C>G n.7274C>G | |
19 | g.38499798C>T | CA507353920 | RYR1 | c.7191C>T (p.Ile2397=) c.7188C>T (p.Ile2396=) c.643C>T n.7274C>T | ClinVar gnomAD v4 |
19 | g.38499799C>A | CA405668762 | RYR1 | c.7192C>A (p.Arg2398Ser) c.7189C>A (p.Arg2397Ser) c.644C>A n.7275C>A | gnomAD v4 |
19 | g.38499799C= | CA2335052938 | RYR1 | c.7192C= (p.Arg2398=) c.7189C= (p.Arg2397=) c.644C= n.7275C= | |
19 | g.38499799C>G | CA405668763 | RYR1 | c.7192C>G (p.Arg2398Gly) c.7189C>G (p.Arg2397Gly) c.644C>G n.7275C>G | |
19 | g.38499799C>T | CA069218 | RYR1 | c.7192C>T (p.Arg2398Cys) c.7189C>T (p.Arg2397Cys) c.644C>T n.7275C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499800G>A | CA069224 | RYR1 | c.7193G>A (p.Arg2398His) c.7190G>A (p.Arg2397His) c.645G>A n.7276G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499800G>C | CA405668765 | RYR1 | c.7193G>C (p.Arg2398Pro) c.7190G>C (p.Arg2397Pro) c.645G>C n.7276G>C | |
19 | g.38499800G= | CA2335052939 | RYR1 | c.7193G= (p.Arg2398=) c.7190G= (p.Arg2397=) c.645G= n.7276G= | |
19 | g.38499800G>T | CA405668766 | RYR1 | c.7193G>T (p.Arg2398Leu) c.7190G>T (p.Arg2397Leu) c.645G>T n.7276G>T | gnomAD v4 |
19 | g.38499801C>A | CA507353921 | RYR1 | c.7194C>A (p.Arg2398=) c.7191C>A (p.Arg2397=) c.646C>A n.7277C>A | |
19 | g.38499801C= | CA2335052940 | RYR1 | c.7194C= (p.Arg2398=) c.7191C= (p.Arg2397=) c.646C= n.7277C= | |
19 | g.38499801C>G | CA507353922 | RYR1 | c.7194C>G (p.Arg2398=) c.7191C>G (p.Arg2397=) c.646C>G n.7277C>G | |
19 | g.38499801C>T | CA308109635 | RYR1 | c.7194C>T (p.Arg2398=) c.7191C>T (p.Arg2397=) c.646C>T n.7277C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499802A>C | CA507353923 | RYR1 | c.7195A>C (p.Arg2399=) c.7192A>C (p.Arg2398=) c.647A>C n.7278A>C | |
19 | g.38499802A>G | CA405668782 | RYR1 | c.7195A>G (p.Arg2399Gly) c.7192A>G (p.Arg2398Gly) c.647A>G n.7278A>G | gnomAD v4 |
19 | g.38499802A>T | CA405668785 | RYR1 | c.7195A>T (p.Arg2399Trp) c.7192A>T (p.Arg2398Trp) c.647A>T n.7278A>T | |
19 | g.38499802_38499803delinsAG | CA2335052941 | RYR1 | c.7195_7196delinsAG (p.Arg2399=) c.7192_7193delinsAG (p.Arg2398=) c.647_648delinsAG n.7278_7279delinsAG | |
19 | g.38499803G>A | CA082353 | RYR1 | c.7196G>A (p.Arg2399Lys) c.7193G>A (p.Arg2398Lys) c.648G>A n.7279G>A | |
19 | g.38499803G>C | CA405668799 | RYR1 | c.7196G>C (p.Arg2399Thr) c.7193G>C (p.Arg2398Thr) c.648G>C n.7279G>C | |
19 | g.38499803G>T | CA405668802 | RYR1 | c.7196G>T (p.Arg2399Met) c.7193G>T (p.Arg2398Met) c.648G>T n.7279G>T | |
19 | g.38499805del | CA069225 | RYR1 | c.7198del (p.Asp2400ThrfsTer30) c.7195del (p.Asp2399ThrfsTer30) c.650del n.7281del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499804G>A | CA507353924 | RYR1 | c.7197G>A (p.Arg2399=) c.7194G>A (p.Arg2398=) c.649G>A n.7280G>A | dbSNP |
19 | g.38499804G>C | CA405668807 | RYR1 | c.7197G>C (p.Arg2399Ser) c.7194G>C (p.Arg2398Ser) c.649G>C n.7280G>C | |
19 | g.38499804G= | CA2335052942 | RYR1 | c.7197G= (p.Arg2399=) c.7194G= (p.Arg2398=) c.649G= n.7280G= | |
19 | g.38499804G>T | CA405668810 | RYR1 | c.7197G>T (p.Arg2399Ser) c.7194G>T (p.Arg2398Ser) c.649G>T n.7280G>T | gnomAD v4 |
19 | g.38499805G>A | CA405668817 | RYR1 | c.7198G>A (p.Asp2400Asn) c.7195G>A (p.Asp2399Asn) c.650G>A n.7281G>A | gnomAD v4 |
19 | g.38499805G>C | CA405668819 | RYR1 | c.7198G>C (p.Asp2400His) c.7195G>C (p.Asp2399His) c.650G>C n.7281G>C | |
19 | g.38499805G>T | CA405668822 | RYR1 | c.7198G>T (p.Asp2400Tyr) c.7195G>T (p.Asp2399Tyr) c.650G>T n.7281G>T | |
19 | g.38499806A= | CA2335052943 | RYR1 | c.7199A= (p.Asp2400=) c.7196A= (p.Asp2399=) c.651A= n.7282A= | |
19 | g.38499806A>C | CA405668826 | RYR1 | c.7199A>C (p.Asp2400Ala) c.7196A>C (p.Asp2399Ala) c.651A>C n.7282A>C | |
19 | g.38499806A>G | CA308109644 | RYR1 | c.7199A>G (p.Asp2400Gly) c.7196A>G (p.Asp2399Gly) c.651A>G n.7282A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499806A>T | CA405668828 | RYR1 | c.7199A>T (p.Asp2400Val) c.7196A>T (p.Asp2399Val) c.651A>T n.7282A>T | |
19 | g.38499806_38499830delinsACCGGCGGCGCGAGCAGTGAGTCTC | CA2335052944 | RYR1 | c.7199_7214+9delinsACCGGCGGCGCGAGCAGTGAGTCTC c.7196_7211+9delinsACCGGCGGCGCGAGCAGTGAGTCTC c.651_666+9delinsACCGGCGGCGCGAGCAGTGAGTCTC n.7282_7297+9delinsACCGGCGGCGCGAGCAGTGAGTCTC | |
19 | g.38499807C>A | CA405668830 | RYR1 | c.7200C>A (p.Asp2400Glu) c.7197C>A (p.Asp2399Glu) c.652C>A n.7283C>A | gnomAD v4 |
19 | g.38499807C= | CA2335052945 | RYR1 | c.7200C= (p.Asp2400=) c.7197C= (p.Asp2399=) c.652C= n.7283C= | |
19 | g.38499807C>G | CA405668832 | RYR1 | c.7200C>G (p.Asp2400Glu) c.7197C>G (p.Asp2399Glu) c.652C>G n.7283C>G | |
19 | g.38499807C>T | CA069228 | RYR1 | c.7200C>T (p.Asp2400=) c.7197C>T (p.Asp2399=) c.652C>T n.7283C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499812_38499835del | CA633066148 | RYR1 | c.7205_7214+14del c.7202_7211+14del c.657_666+14del n.7288_7297+14del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499808C>A | CA507353925 | RYR1 | c.7201C>A (p.Arg2401=) c.7198C>A (p.Arg2400=) c.653C>A n.7284C>A | gnomAD v4 |
19 | g.38499808C= | CA2335052946 | RYR1 | c.7201C= (p.Arg2401=) c.7198C= (p.Arg2400=) c.653C= n.7284C= | |
19 | g.38499808C>G | CA405668834 | RYR1 | c.7201C>G (p.Arg2401Gly) c.7198C>G (p.Arg2400Gly) c.653C>G n.7284C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499808C>T | CA405668836 | RYR1 | c.7201C>T (p.Arg2401Trp) c.7198C>T (p.Arg2400Trp) c.653C>T n.7284C>T | dbSNP gnomAD v4 |
19 | g.38499809G>A | CA069232 | RYR1 | c.7202G>A (p.Arg2401Gln) c.7199G>A (p.Arg2400Gln) c.654G>A n.7285G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499809G>C | CA405668842 | RYR1 | c.7202G>C (p.Arg2401Pro) c.7199G>C (p.Arg2400Pro) c.654G>C n.7285G>C | |
19 | g.38499809G= | CA2335052947 | RYR1 | c.7202G= (p.Arg2401=) c.7199G= (p.Arg2400=) c.654G= n.7285G= | |
19 | g.38499809G>T | CA069235 | RYR1 | c.7202G>T (p.Arg2401Leu) c.7199G>T (p.Arg2400Leu) c.654G>T n.7285G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499810G>A | CA507353926 | RYR1 | c.7203G>A (p.Arg2401=) c.7200G>A (p.Arg2400=) c.655G>A n.7286G>A | gnomAD v4 |
19 | g.38499810G>C | CA507353928 | RYR1 | c.7203G>C (p.Arg2401=) c.7200G>C (p.Arg2400=) c.655G>C n.7286G>C | gnomAD v4 |
19 | g.38499810G>T | CA507353927 | RYR1 | c.7203G>T (p.Arg2401=) c.7200G>T (p.Arg2400=) c.655G>T n.7286G>T | gnomAD v4 |
19 | g.38499811C>A | CA507353929 | RYR1 | c.7204C>A (p.Arg2402=) c.7201C>A (p.Arg2401=) c.656C>A n.7287C>A | |
19 | g.38499811C= | CA2335052948 | RYR1 | c.7204C= (p.Arg2402=) c.7201C= (p.Arg2401=) c.656C= n.7287C= | |
19 | g.38499811C>G | CA405668848 | RYR1 | c.7204C>G (p.Arg2402Gly) c.7201C>G (p.Arg2401Gly) c.656C>G n.7287C>G | |
19 | g.38499811C>T | CA069238 | RYR1 | c.7204C>T (p.Arg2402Trp) c.7201C>T (p.Arg2401Trp) c.656C>T n.7287C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499812G>A | CA082356 | RYR1 | c.7205G>A (p.Arg2402Gln) c.7202G>A (p.Arg2401Gln) c.657G>A n.7288G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499812G>C | CA405668856 | RYR1 | c.7205G>C (p.Arg2402Pro) c.7202G>C (p.Arg2401Pro) c.657G>C n.7288G>C | gnomAD v4 |
19 | g.38499812G= | CA2335052949 | RYR1 | c.7205G= (p.Arg2402=) c.7202G= (p.Arg2401=) c.657G= n.7288G= | |
19 | g.38499812G>T | CA082357 | RYR1 | c.7205G>T (p.Arg2402Leu) c.7202G>T (p.Arg2401Leu) c.657G>T n.7288G>T | |
19 | g.38499813G>A | CA507353930 | RYR1 | c.7206G>A (p.Arg2402=) c.7203G>A (p.Arg2401=) c.658G>A n.7289G>A | ClinVar |
19 | g.38499813G>C | CA507353931 | RYR1 | c.7206G>C (p.Arg2402=) c.7203G>C (p.Arg2401=) c.658G>C n.7289G>C | |
19 | g.38499813G>T | CA507353932 | RYR1 | c.7206G>T (p.Arg2402=) c.7203G>T (p.Arg2401=) c.658G>T n.7289G>T | |
19 | g.38499814C>A | CA405668859 | RYR1 | c.7207C>A (p.Arg2403Ser) c.7204C>A (p.Arg2402Ser) c.659C>A n.7290C>A | |
19 | g.38499814C= | CA2335052950 | RYR1 | c.7207C= (p.Arg2403=) c.7204C= (p.Arg2402=) c.659C= n.7290C= | |
19 | g.38499814C>G | CA405668861 | RYR1 | c.7207C>G (p.Arg2403Gly) c.7204C>G (p.Arg2402Gly) c.659C>G n.7290C>G | |
19 | g.38499814C>T | CA082358 | RYR1 | c.7207C>T (p.Arg2403Cys) c.7204C>T (p.Arg2402Cys) c.659C>T n.7290C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38499815G>A | CA069241 | RYR1 | c.7208G>A (p.Arg2403His) c.7205G>A (p.Arg2402His) c.660G>A n.7291G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38499815G>C | CA405668869 | RYR1 | c.7208G>C (p.Arg2403Pro) c.7205G>C (p.Arg2402Pro) c.660G>C n.7291G>C | |
19 | g.38499815G= | CA2335052951 | RYR1 | c.7208G= (p.Arg2403=) c.7205G= (p.Arg2402=) c.660G= n.7291G= | |
19 | g.38499815G>T | CA405668871 | RYR1 | c.7208G>T (p.Arg2403Leu) c.7205G>T (p.Arg2402Leu) c.660G>T n.7291G>T | dbSNP gnomAD v4 |
19 | g.38499815_38499816delinsAT | CA2697556575 | RYR1 | c.7208_7209delinsAT (p.Arg2403His) c.7205_7206delinsAT (p.Arg2402His) c.660_661delinsAT n.7291_7292delinsAT | ClinVar |
19 | g.38499816C>A | CA507353933 | RYR1 | c.7209C>A (p.Arg2403=) c.7206C>A (p.Arg2402=) c.661C>A n.7292C>A | dbSNP |
19 | g.38499816C= | CA2335052952 | RYR1 | c.7209C= (p.Arg2403=) c.7206C= (p.Arg2402=) c.661C= n.7292C= | |
19 | g.38499816C>G | CA507353934 | RYR1 | c.7209C>G (p.Arg2403=) c.7206C>G (p.Arg2402=) c.661C>G n.7292C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499816C>T | CA024721 | RYR1 | c.7209C>T (p.Arg2403=) c.7206C>T (p.Arg2402=) c.661C>T n.7292C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499817G>A | CA024723 | RYR1 | c.7210G>A (p.Glu2404Lys) c.7207G>A (p.Glu2403Lys) c.662G>A n.7293G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499817G>C | CA405668877 | RYR1 | c.7210G>C (p.Glu2404Gln) c.7207G>C (p.Glu2403Gln) c.662G>C n.7293G>C | |
19 | g.38499817G= | CA2335052953 | RYR1 | c.7210G= (p.Glu2404=) c.7207G= (p.Glu2403=) c.662G= n.7293G= | |
19 | g.38499817G>T | CA405668873 | RYR1 | c.7210G>T (p.Glu2404Ter) c.7207G>T (p.Glu2403Ter) c.662G>T n.7293G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38499818A= | CA2335052954 | RYR1 | c.7211A= (p.Glu2404=) c.7208A= (p.Glu2403=) c.663A= n.7294A= | |
19 | g.38499818A>C | CA405668898 | RYR1 | c.7211A>C (p.Glu2404Ala) c.7208A>C (p.Glu2403Ala) c.663A>C n.7294A>C | |
19 | g.38499818A>G | CA405668899 | RYR1 | c.7211A>G (p.Glu2404Gly) c.7208A>G (p.Glu2403Gly) c.663A>G n.7294A>G | dbSNP |
19 | g.38499818A>T | CA405668900 | RYR1 | c.7211A>T (p.Glu2404Val) c.7208A>T (p.Glu2403Val) c.663A>T n.7294A>T | |
19 | g.38499819G>A | CA507353935 | RYR1 | c.7212G>A (p.Glu2404=) c.7209G>A (p.Glu2403=) c.664G>A n.7295G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499819G>C | CA405668901 | RYR1 | c.7212G>C (p.Glu2404Asp) c.7209G>C (p.Glu2403Asp) c.664G>C n.7295G>C | |
19 | g.38499819G= | CA2335052955 | RYR1 | c.7212G= (p.Glu2404=) c.7209G= (p.Glu2403=) c.664G= n.7295G= | |
19 | g.38499819G>T | CA405668903 | RYR1 | c.7212G>T (p.Glu2404Asp) c.7209G>T (p.Glu2403Asp) c.664G>T n.7295G>T | |
19 | g.38499820C>A | CA405668914 | RYR1 | c.7213C>A (p.His2405Asn) c.7210C>A (p.His2404Asn) c.665C>A n.7296C>A | |
19 | g.38499820C>G | CA405668906 | RYR1 | c.7213C>G (p.His2405Asp) c.7210C>G (p.His2404Asp) c.665C>G n.7296C>G | |
19 | g.38499820C>T | CA405668912 | RYR1 | c.7213C>T (p.His2405Tyr) c.7210C>T (p.His2404Tyr) c.665C>T n.7296C>T | |
19 | g.38499821A>C | CA405668917 | RYR1 | c.7214A>C (p.His2405Pro) c.7211A>C (p.His2404Pro) c.666A>C n.7297A>C | |
19 | g.38499821A>G | CA405668919 | RYR1 | c.7214A>G (p.His2405Arg) c.7211A>G (p.His2404Arg) c.666A>G n.7297A>G | |
19 | g.38499821A>T | CA405668921 | RYR1 | c.7214A>T (p.His2405Leu) c.7211A>T (p.His2404Leu) c.666A>T n.7297A>T | |
19 | g.38499822G>A | CA405668923 | RYR1 | c.7214+1G>A (n.7214+1G>A) c.7211+1G>A (n.7211+1G>A) c.666+1G>A n.7297+1G>A | dbSNP |
19 | g.38499822G>C | CA405668927 | RYR1 | c.7214+1G>C (n.7214+1G>C) c.7211+1G>C (n.7211+1G>C) c.666+1G>C n.7297+1G>C | |
19 | g.38499822G= | CA2335052956 | RYR1 | c.7214+1G= (n.7214+1G=) c.7211+1G= (n.7211+1G=) c.666+1G= n.7297+1G= | |
19 | g.38499822G>T | CA405668929 | RYR1 | c.7214+1G>T (n.7214+1G>T) c.7211+1G>T (n.7211+1G>T) c.666+1G>T n.7297+1G>T | |
19 | g.38499823T>A | CA405668935 | RYR1 | c.7214+2T>A (n.7214+2T>A) c.7211+2T>A (n.7211+2T>A) c.666+2T>A n.7297+2T>A | |
19 | g.38499823T>C | CA405668940 | RYR1 | c.7214+2T>C (n.7214+2T>C) c.7211+2T>C (n.7211+2T>C) c.666+2T>C n.7297+2T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499823T>G | CA405668934 | RYR1 | c.7214+2T>G (n.7214+2T>G) c.7211+2T>G (n.7211+2T>G) c.666+2T>G n.7297+2T>G | |
19 | g.38499823T= | CA2335052957 | RYR1 | c.7214+2T= (n.7214+2T=) c.7211+2T= (n.7211+2T=) c.666+2T= n.7297+2T= | |
19 | g.38499824G>A | CA633066149 | RYR1 | c.7214+3G>A (n.7214+3G>A) c.7211+3G>A (n.7211+3G>A) c.666+3G>A n.7297+3G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499824G= | CA2335052958 | RYR1 | c.7214+3G= (n.7214+3G=) c.7211+3G= (n.7211+3G=) c.666+3G= n.7297+3G= | |
19 | g.38499824G>T | CA2825002779 | RYR1 | c.7214+3G>T (n.7214+3G>T) c.7211+3G>T (n.7211+3G>T) c.666+3G>T n.7297+3G>T | ClinVar |
19 | g.38499828C>A | CA2843262411 | RYR1 | c.7214+7C>A (n.7214+7C>A) c.7211+7C>A (n.7211+7C>A) c.666+7C>A n.7297+7C>A | |
19 | g.38499828C>G | CA2584900042 | RYR1 | c.7214+7C>G (n.7214+7C>G) c.7211+7C>G (n.7211+7C>G) c.666+7C>G n.7297+7C>G | gnomAD v4 |
19 | g.38499828C>T | CA2584900043 | RYR1 | c.7214+7C>T (n.7214+7C>T) c.7211+7C>T (n.7211+7C>T) c.666+7C>T n.7297+7C>T | gnomAD v4 |
19 | g.38499829T>A | CA2584900044 | RYR1 | c.7214+8T>A (n.7214+8T>A) c.7211+8T>A (n.7211+8T>A) c.666+8T>A n.7297+8T>A | gnomAD v4 |
19 | g.38499830C>A | CA2584900045 | RYR1 | c.7214+9C>A (n.7214+9C>A) c.7211+9C>A (n.7211+9C>A) c.666+9C>A n.7297+9C>A | gnomAD v4 |
19 | g.38499830C>T | CA2584900046 | RYR1 | c.7214+9C>T (n.7214+9C>T) c.7211+9C>T (n.7211+9C>T) c.666+9C>T n.7297+9C>T | gnomAD v4 |
19 | g.38499831C= | CA2335052959 | RYR1 | c.7214+10C= (n.7214+10C=) c.7211+10C= (n.7211+10C=) c.666+10C= n.7297+10C= | |
19 | g.38499831C>T | CA069249 | RYR1 | c.7214+10C>T (n.7214+10C>T) c.7211+10C>T (n.7211+10C>T) c.666+10C>T n.7297+10C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499832C>A | CA2584900047 | RYR1 | c.7214+11C>A (n.7214+11C>A) c.7211+11C>A (n.7211+11C>A) c.666+11C>A n.7297+11C>A | gnomAD v4 |
19 | g.38499832C= | CA2335052960 | RYR1 | c.7214+11C= (n.7214+11C=) c.7211+11C= (n.7211+11C=) c.666+11C= n.7297+11C= | |
19 | g.38499832C>T | CA069251 | RYR1 | c.7214+11C>T (n.7214+11C>T) c.7211+11C>T (n.7211+11C>T) c.666+11C>T n.7297+11C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499833G>A | CA069254 | RYR1 | c.7214+12G>A (n.7214+12G>A) c.7211+12G>A (n.7211+12G>A) c.666+12G>A n.7297+12G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499833G= | CA2335052961 | RYR1 | c.7214+12G= (n.7214+12G=) c.7211+12G= (n.7211+12G=) c.666+12G= n.7297+12G= | |
19 | g.38499833G>T | CA2839137450 | RYR1 | c.7214+12G>T (n.7214+12G>T) c.7211+12G>T (n.7211+12G>T) c.666+12G>T n.7297+12G>T | |
19 | g.38499834G>A | CA069258 | RYR1 | c.7214+13G>A (n.7214+13G>A) c.7211+13G>A (n.7211+13G>A) c.666+13G>A n.7297+13G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499834G= | CA2335052962 | RYR1 | c.7214+13G= (n.7214+13G=) c.7211+13G= (n.7211+13G=) c.666+13G= n.7297+13G= | |
19 | g.38499835C>A | CA2584900048 | RYR1 | c.7214+14C>A (n.7214+14C>A) c.7211+14C>A (n.7211+14C>A) c.666+14C>A n.7297+14C>A | gnomAD v4 |
19 | g.38499835C>G | CA2843262412 | RYR1 | c.7214+14C>G (n.7214+14C>G) c.7211+14C>G (n.7211+14C>G) c.666+14C>G n.7297+14C>G | |
19 | g.38499835C>T | CA2584900049 | RYR1 | c.7214+14C>T (n.7214+14C>T) c.7211+14C>T (n.7211+14C>T) c.666+14C>T n.7297+14C>T | gnomAD v4 |
19 | g.38499839dup | CA2814346182 | RYR1 | c.7214+18dup (n.7214+18dup) c.7211+18dup (n.7211+18dup) c.666+18dup n.7297+18dup | |
19 | g.38499839del | CA2584900050 | RYR1 | c.7214+18del (n.7214+18del) c.7211+18del (n.7211+18del) c.666+18del n.7297+18del | gnomAD v4 |
19 | g.38499836C= | CA2335052963 | RYR1 | c.7214+15C= (n.7214+15C=) c.7211+15C= (n.7211+15C=) c.666+15C= n.7297+15C= | |
19 | g.38499836C>G | CA995715616 | RYR1 | c.7214+15C>G (n.7214+15C>G) c.7211+15C>G (n.7211+15C>G) c.666+15C>G n.7297+15C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499836C>T | CA069262 | RYR1 | c.7214+15C>T (n.7214+15C>T) c.7211+15C>T (n.7211+15C>T) c.666+15C>T n.7297+15C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499837C>A | CA2573156326 | RYR1 | c.7214+16C>A (n.7214+16C>A) c.7211+16C>A (n.7211+16C>A) c.666+16C>A n.7297+16C>A | ClinVar dbSNP |
19 | g.38499837C= | CA2335052964 | RYR1 | c.7214+16C= (n.7214+16C=) c.7211+16C= (n.7211+16C=) c.666+16C= n.7297+16C= | |
19 | g.38499837C>T | CA882051394 | RYR1 | c.7214+16C>T (n.7214+16C>T) c.7211+16C>T (n.7211+16C>T) c.666+16C>T n.7297+16C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499838C>A | CA2843262413 | RYR1 | c.7214+17C>A (n.7214+17C>A) c.7211+17C>A (n.7211+17C>A) c.666+17C>A n.7297+17C>A | |
19 | g.38499838C= | CA2335052965 | RYR1 | c.7214+17C= (n.7214+17C=) c.7211+17C= (n.7211+17C=) c.666+17C= n.7297+17C= | |
19 | g.38499838C>G | CA069263 | RYR1 | c.7214+17C>G (n.7214+17C>G) c.7211+17C>G (n.7211+17C>G) c.666+17C>G n.7297+17C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499838C>T | CA069265 | RYR1 | c.7214+17C>T (n.7214+17C>T) c.7211+17C>T (n.7211+17C>T) c.666+17C>T n.7297+17C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499840_38499841del | CA069268 | RYR1 | c.7214+19_7214+20del (n.7214+19_7214+20del) c.7211+19_7211+20del (n.7211+19_7211+20del) c.666+19_666+20del n.7297+19_7297+20del | |
19 | g.38499840T>C | CA2576771079 | RYR1 | c.7214+19T>C (n.7214+19T>C) c.7211+19T>C (n.7211+19T>C) c.666+19T>C n.7297+19T>C | gnomAD v4 |
19 | g.38499840T>G | CA9415816 | RYR1 | c.7214+19T>G (n.7214+19T>G) c.7211+19T>G (n.7211+19T>G) c.666+19T>G n.7297+19T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499840T= | CA2335052966 | RYR1 | c.7214+19T= (n.7214+19T=) c.7211+19T= (n.7211+19T=) c.666+19T= n.7297+19T= | |
19 | g.38499840_38499841delinsTC | CA2335052967 | RYR1 | c.7214+19_7214+20delinsTC (n.7214+19_7214+20delinsTC) c.7211+19_7211+20delinsTC (n.7211+19_7211+20delinsTC) c.666+19_666+20delinsTC n.7297+19_7297+20delinsTC | |
19 | g.38499841C>G | CA2576771080 | RYR1 | c.7214+20C>G (n.7214+20C>G) c.7211+20C>G (n.7211+20C>G) c.666+20C>G n.7297+20C>G | |
19 | g.38499841C>T | CA2584900051 | RYR1 | c.7214+20C>T (n.7214+20C>T) c.7211+20C>T (n.7211+20C>T) c.666+20C>T n.7297+20C>T | gnomAD v4 |
19 | g.38499842del | CA9415815 | RYR1 | c.7214+21del (n.7214+21del) c.7211+21del (n.7211+21del) c.666+21del n.7297+21del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499843T>C | CA2843262414 | RYR1 | c.7214+22T>C (n.7214+22T>C) c.7211+22T>C (n.7211+22T>C) c.666+22T>C n.7297+22T>C | |
19 | g.38499844C>A | CA069276 | RYR1 | c.7214+23C>A (n.7214+23C>A) c.7211+23C>A (n.7211+23C>A) c.666+23C>A n.7297+23C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499844C= | CA2335052968 | RYR1 | c.7214+23C= (n.7214+23C=) c.7211+23C= (n.7211+23C=) c.666+23C= n.7297+23C= | |
19 | g.38499844C>T | CA2584900052 | RYR1 | c.7214+23C>T (n.7214+23C>T) c.7211+23C>T (n.7211+23C>T) c.666+23C>T n.7297+23C>T | gnomAD v4 |
19 | g.38499845A= | CA2335052969 | RYR1 | c.7214+24A= (n.7214+24A=) c.7211+24A= (n.7211+24A=) c.666+24A= n.7297+24A= | |
19 | g.38499845A>C | CA2843262415 | RYR1 | c.7214+24A>C (n.7214+24A>C) c.7211+24A>C (n.7211+24A>C) c.666+24A>C n.7297+24A>C | |
19 | g.38499845A>G | CA069278 | RYR1 | c.7214+24A>G (n.7214+24A>G) c.7211+24A>G (n.7211+24A>G) c.666+24A>G n.7297+24A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499846dup | CA2814346189 | RYR1 | c.7214+25dup (n.7214+25dup) c.7211+25dup (n.7211+25dup) c.666+25dup n.7297+25dup | |
19 | g.38499846A= | CA2335052970 | RYR1 | c.7214+25A= (n.7214+25A=) c.7211+25A= (n.7211+25A=) c.666+25A= n.7297+25A= | |
19 | g.38499846A>G | CA882051407 | RYR1 | c.7214+25A>G (n.7214+25A>G) c.7211+25A>G (n.7211+25A>G) c.666+25A>G n.7297+25A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499847T>C | CA2335052972 | RYR1 | c.7214+26T>C (n.7214+26T>C) c.7211+26T>C (n.7211+26T>C) c.666+26T>C n.7297+26T>C | dbSNP |
19 | g.38499847T>G | CA2814346190 | RYR1 | c.7214+26T>G (n.7214+26T>G) c.7211+26T>G (n.7211+26T>G) c.666+26T>G n.7297+26T>G | |
19 | g.38499847T= | CA2335052971 | RYR1 | c.7214+26T= (n.7214+26T=) c.7211+26T= (n.7211+26T=) c.666+26T= n.7297+26T= | |
19 | g.38499848A= | CA2335052973 | RYR1 | c.7214+27A= (n.7214+27A=) c.7211+27A= (n.7211+27A=) c.666+27A= n.7297+27A= | |
19 | g.38499848A>G | CA633066150 | RYR1 | c.7214+27A>G (n.7214+27A>G) c.7211+27A>G (n.7211+27A>G) c.666+27A>G n.7297+27A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499849G>A | CA069279 | RYR1 | c.7214+28G>A (n.7214+28G>A) c.7211+28G>A (n.7211+28G>A) c.666+28G>A n.7297+28G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499849G= | CA2335052974 | RYR1 | c.7214+28G= (n.7214+28G=) c.7211+28G= (n.7211+28G=) c.666+28G= n.7297+28G= | |
19 | g.38499850G>A | CA2584900054 | RYR1 | c.7214+29G>A (n.7214+29G>A) c.7211+29G>A (n.7211+29G>A) c.666+29G>A n.7297+29G>A | dbSNP gnomAD v4 |
19 | g.38499850G>C | CA2584900053 | RYR1 | c.7214+29G>C (n.7214+29G>C) c.7211+29G>C (n.7211+29G>C) c.666+29G>C n.7297+29G>C | gnomAD v4 |
19 | g.38499851G>A | CA2843262416 | RYR1 | c.7214+30G>A (n.7214+30G>A) c.7211+30G>A (n.7211+30G>A) c.666+30G>A n.7297+30G>A | |
19 | g.38499851G= | CA2335052975 | RYR1 | c.7214+30G= (n.7214+30G=) c.7211+30G= (n.7211+30G=) c.666+30G= n.7297+30G= | |
19 | g.38499851G>T | CA308109740 | RYR1 | c.7214+30G>T (n.7214+30G>T) c.7211+30G>T (n.7211+30G>T) c.666+30G>T n.7297+30G>T | dbSNP gnomAD v4 |
19 | g.38499852C= | CA2335052976 | RYR1 | c.7214+31C= (n.7214+31C=) c.7211+31C= (n.7211+31C=) c.666+31C= n.7297+31C= | |
19 | g.38499852C>T | CA2584900055 | RYR1 | c.7214+31C>T (n.7214+31C>T) c.7211+31C>T (n.7211+31C>T) c.666+31C>T n.7297+31C>T | gnomAD v4 |
19 | g.38499853A= | CA2335052977 | RYR1 | c.7214+32A= (n.7214+32A=) c.7211+32A= (n.7211+32A=) c.666+32A= n.7297+32A= | |
19 | g.38499853A>C | CA069282 | RYR1 | c.7214+32A>C (n.7214+32A>C) c.7211+32A>C (n.7211+32A>C) c.666+32A>C n.7297+32A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499854dup | CA633066151 | RYR1 | c.7214+33dup (n.7214+33dup) c.7211+33dup (n.7211+33dup) c.666+33dup n.7297+33dup | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499854A= | CA2335052978 | RYR1 | c.7214+33A= (n.7214+33A=) c.7211+33A= (n.7211+33A=) c.666+33A= n.7297+33A= | |
19 | g.38499855C>A | CA2584900056 | RYR1 | c.7214+34C>A (n.7214+34C>A) c.7211+34C>A (n.7211+34C>A) c.666+34C>A n.7297+34C>A | gnomAD v4 |
19 | g.38499855C>T | CA2584900057 | RYR1 | c.7214+34C>T (n.7214+34C>T) c.7211+34C>T (n.7211+34C>T) c.666+34C>T n.7297+34C>T | gnomAD v4 |
19 | g.38499857dup | CA633066153 | RYR1 | c.7214+36dup (n.7214+36dup) c.7211+36dup (n.7211+36dup) c.666+36dup n.7297+36dup | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499857del | CA633066152 | RYR1 | c.7214+36del (n.7214+36del) c.7211+36del (n.7211+36del) c.666+36del n.7297+36del | gnomAD v2 |
19 | g.38499857C>A | CA2584900058 | RYR1 | c.7214+36C>A (n.7214+36C>A) c.7211+36C>A (n.7211+36C>A) c.666+36C>A n.7297+36C>A | gnomAD v4 |
19 | g.38499857C= | CA2335052979 | RYR1 | c.7214+36C= (n.7214+36C=) c.7211+36C= (n.7211+36C=) c.666+36C= n.7297+36C= | |
19 | g.38499857C>T | CA069284 | RYR1 | c.7214+36C>T (n.7214+36C>T) c.7211+36C>T (n.7211+36C>T) c.666+36C>T n.7297+36C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499858G>A | CA069288 | RYR1 | c.7214+37G>A (n.7214+37G>A) c.7211+37G>A (n.7211+37G>A) c.666+37G>A n.7297+37G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499858G>C | CA069289 | RYR1 | c.7214+37G>C (n.7214+37G>C) c.7211+37G>C (n.7211+37G>C) c.666+37G>C n.7297+37G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499858G= | CA2335052980 | RYR1 | c.7214+37G= (n.7214+37G=) c.7211+37G= (n.7211+37G=) c.666+37G= n.7297+37G= | |
19 | g.38499858G>T | CA2584900059 | RYR1 | c.7214+37G>T (n.7214+37G>T) c.7211+37G>T (n.7211+37G>T) c.666+37G>T n.7297+37G>T | dbSNP gnomAD v4 |
19 | g.38499858_38499859insGGC | CA2584900060 | RYR1 | c.7214+37_7214+38insGGC (n.7214+37_7214+38insGGC) c.7211+37_7211+38insGGC (n.7211+37_7211+38insGGC) c.666+37_666+38insGGC n.7297+37_7297+38insGGC | gnomAD v4 |
19 | g.38499858_38499859insGGCCCCGGCCGCCCCCCCCACCCCCCCC | CA2584900061 | RYR1 | c.7214+37_7214+38insGGCCCCGGCCGCCCCCCCCACCCCCCCC (n.7214+37_7214+38insGGCCCCGGCCGCCCCCCCCACCCCCCCC) c.7211+37_7211+38insGGCCCCGGCCGCCCCCCCCACCCCCCCC (n.7211+37_7211+38insGGCCCCGGCCGCCCCCCCCACCCCCCCC) c.666+37_666+38insGGCCCCGGCCGCCCCCCCCACCCCCCCC n.7297+37_7297+38insGGCCCCGGCCGCCCCCCCCACCCCCCCC | gnomAD v4 |
19 | g.38499859C>A | CA2843262417 | RYR1 | c.7214+38C>A (n.7214+38C>A) c.7211+38C>A (n.7211+38C>A) c.666+38C>A n.7297+38C>A | |
19 | g.38499859C= | CA2335052981 | RYR1 | c.7214+38C= (n.7214+38C=) c.7211+38C= (n.7211+38C=) c.666+38C= n.7297+38C= | |
19 | g.38499859C>T | CA069293 | RYR1 | c.7214+38C>T (n.7214+38C>T) c.7211+38C>T (n.7211+38C>T) c.666+38C>T n.7297+38C>T | dbSNP ExAC gnomAD v2 |
19 | g.38499861dup | CA2584900062 | RYR1 | c.7214+40dup (n.7214+40dup) c.7211+40dup (n.7211+40dup) c.666+40dup n.7297+40dup | gnomAD v4 |
19 | g.38499860C>A | CA2584900063 | RYR1 | c.7214+39C>A (n.7214+39C>A) c.7211+39C>A (n.7211+39C>A) c.666+39C>A n.7297+39C>A | gnomAD v4 |
19 | g.38499861C>A | CA2576771081 | RYR1 | c.7214+40C>A (n.7214+40C>A) c.7211+40C>A (n.7211+40C>A) c.666+40C>A n.7297+40C>A | |
19 | g.38499861_38499862insA | CA2584900064 | RYR1 | c.7214+40_7214+41insA (n.7214+40_7214+41insA) c.7211+40_7211+41insA (n.7211+40_7211+41insA) c.666+40_666+41insA n.7297+40_7297+41insA | gnomAD v4 |
19 | g.38499862T>A | CA995715638 | RYR1 | c.7214+41T>A (n.7214+41T>A) c.7211+41T>A (n.7211+41T>A) c.666+41T>A n.7297+41T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499862T>C | CA633066154 | RYR1 | c.7214+41T>C (n.7214+41T>C) c.7211+41T>C (n.7211+41T>C) c.666+41T>C n.7297+41T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499862T>G | CA2584900065 | RYR1 | c.7214+41T>G (n.7214+41T>G) c.7211+41T>G (n.7211+41T>G) c.666+41T>G n.7297+41T>G | gnomAD v4 |
19 | g.38499862T= | CA2335052982 | RYR1 | c.7214+41T= (n.7214+41T=) c.7211+41T= (n.7211+41T=) c.666+41T= n.7297+41T= | |
19 | g.38499862_38499869delinsTCCCTGGC | CA2335052983 | RYR1 | c.7214+41_7215-39delinsTCCCTGGC (n.7214+41_7215-39delinsTCCCTGGC) c.7211+41_7212-39delinsTCCCTGGC (n.7211+41_7212-39delinsTCCCTGGC) c.666+41_667-39delinsTCCCTGGC n.7297+41_7298-39delinsTCCCTGGC | |
19 | g.38499863C>A | CA2576771082 | RYR1 | c.7214+42C>A (n.7214+42C>A) c.7211+42C>A (n.7211+42C>A) c.666+42C>A n.7297+42C>A | gnomAD v4 |
19 | g.38499863C>G | CA2584900066 | RYR1 | c.7214+42C>G (n.7214+42C>G) c.7211+42C>G (n.7211+42C>G) c.666+42C>G n.7297+42C>G | gnomAD v4 |
19 | g.38499865del | CA2838206503 | RYR1 | c.7215-43del (n.7215-43del) c.7212-43del (n.7212-43del) c.667-43del n.7298-43del | |
19 | g.38499870_38499876del | CA9415817 | RYR1 | c.7215-38_7215-32del (n.7215-38_7215-32del) c.7212-38_7212-32del (n.7212-38_7212-32del) c.667-38_667-32del n.7298-38_7298-32del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499864C>T | CA2584900067 | RYR1 | c.7215-44C>T (n.7215-44C>T) c.7212-44C>T (n.7212-44C>T) c.667-44C>T n.7298-44C>T | gnomAD v4 |
19 | g.38499865C>A | CA2584900068 | RYR1 | c.7215-43C>A (n.7215-43C>A) c.7212-43C>A (n.7212-43C>A) c.667-43C>A n.7298-43C>A | gnomAD v4 |
19 | g.38499865_38499866insA | CA2584900070 | RYR1 | c.7215-43_7215-42insA (n.7215-43_7215-42insA) c.7212-43_7212-42insA (n.7212-43_7212-42insA) c.667-43_667-42insA n.7298-43_7298-42insA | gnomAD v4 |
19 | g.38499866T>A | CA995715643 | RYR1 | c.7215-42T>A (n.7215-42T>A) c.7212-42T>A (n.7212-42T>A) c.667-42T>A n.7298-42T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499866T>C | CA995715645 | RYR1 | c.7215-42T>C (n.7215-42T>C) c.7212-42T>C (n.7212-42T>C) c.667-42T>C n.7298-42T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499866T>G | CA2584900069 | RYR1 | c.7215-42T>G (n.7215-42T>G) c.7212-42T>G (n.7212-42T>G) c.667-42T>G n.7298-42T>G | gnomAD v4 |
19 | g.38499866T= | CA2335052984 | RYR1 | c.7215-42T= (n.7215-42T=) c.7212-42T= (n.7212-42T=) c.667-42T= n.7298-42T= | |
19 | g.38499866_38499868del | CA2838202906 | RYR1 | c.7215-42_7215-40del (n.7215-42_7215-40del) c.7212-42_7212-40del (n.7212-42_7212-40del) c.667-42_667-40del n.7298-42_7298-40del | |
19 | g.38499867G>C | CA2843262418 | RYR1 | c.7215-41G>C (n.7215-41G>C) c.7212-41G>C (n.7212-41G>C) c.667-41G>C n.7298-41G>C | |
19 | g.38499867G>T | CA2584900071 | RYR1 | c.7215-41G>T (n.7215-41G>T) c.7212-41G>T (n.7212-41G>T) c.667-41G>T n.7298-41G>T | gnomAD v4 |
19 | g.38499868G>A | CA2335052986 | RYR1 | c.7215-40G>A (n.7215-40G>A) c.7212-40G>A (n.7212-40G>A) c.667-40G>A n.7298-40G>A | dbSNP gnomAD v4 |
19 | g.38499868G= | CA2335052985 | RYR1 | c.7215-40G= (n.7215-40G=) c.7212-40G= (n.7212-40G=) c.667-40G= n.7298-40G= | |
19 | g.38499868G>T | CA2838196485 | RYR1 | c.7215-40G>T (n.7215-40G>T) c.7212-40G>T (n.7212-40G>T) c.667-40G>T n.7298-40G>T | |
19 | g.38499869C>A | CA2839745716 | RYR1 | c.7215-39C>A (n.7215-39C>A) c.7212-39C>A (n.7212-39C>A) c.667-39C>A n.7298-39C>A | |
19 | g.38499869C= | CA2335052987 | RYR1 | c.7215-39C= (n.7215-39C=) c.7212-39C= (n.7212-39C=) c.667-39C= n.7298-39C= | |
19 | g.38499869C>G | CA2584900072 | RYR1 | c.7215-39C>G (n.7215-39C>G) c.7212-39C>G (n.7212-39C>G) c.667-39C>G n.7298-39C>G | gnomAD v4 |
19 | g.38499869C>T | CA308109759 | RYR1 | c.7215-39C>T (n.7215-39C>T) c.7212-39C>T (n.7212-39C>T) c.667-39C>T n.7298-39C>T | dbSNP gnomAD v4 |
19 | g.38499872del | CA2838437013 | RYR1 | c.7215-36del (n.7215-36del) c.7212-36del (n.7212-36del) c.667-36del n.7298-36del | |
19 | g.38499871C>A | CA2736029776 | RYR1 | c.7215-37C>A (n.7215-37C>A) c.7212-37C>A (n.7212-37C>A) c.667-37C>A n.7298-37C>A | dbSNP |
19 | g.38499872C= | CA2335052988 | RYR1 | c.7215-36C= (n.7215-36C=) c.7212-36C= (n.7212-36C=) c.667-36C= n.7298-36C= | |
19 | g.38499872C>T | CA069305 | RYR1 | c.7215-36C>T (n.7215-36C>T) c.7212-36C>T (n.7212-36C>T) c.667-36C>T n.7298-36C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499873T>A | CA995715648 | RYR1 | c.7215-35T>A (n.7215-35T>A) c.7212-35T>A (n.7212-35T>A) c.667-35T>A n.7298-35T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499873T>C | CA2584900073 | RYR1 | c.7215-35T>C (n.7215-35T>C) c.7212-35T>C (n.7212-35T>C) c.667-35T>C n.7298-35T>C | gnomAD v4 |
19 | g.38499873T>G | CA2584900074 | RYR1 | c.7215-35T>G (n.7215-35T>G) c.7212-35T>G (n.7212-35T>G) c.667-35T>G n.7298-35T>G | gnomAD v4 |
19 | g.38499873T= | CA2335052989 | RYR1 | c.7215-35T= (n.7215-35T=) c.7212-35T= (n.7212-35T=) c.667-35T= n.7298-35T= | |
19 | g.38499874G>A | CA2576771083 | RYR1 | c.7215-34G>A (n.7215-34G>A) c.7212-34G>A (n.7212-34G>A) c.667-34G>A n.7298-34G>A | gnomAD v4 |
19 | g.38499874G>T | CA2584900075 | RYR1 | c.7215-34G>T (n.7215-34G>T) c.7212-34G>T (n.7212-34G>T) c.667-34G>T n.7298-34G>T | gnomAD v4 |
19 | g.38499876C>A | CA2838437006 | RYR1 | c.7215-32C>A (n.7215-32C>A) c.7212-32C>A (n.7212-32C>A) c.667-32C>A n.7298-32C>A | |
19 | g.38499876C>G | CA2584900076 | RYR1 | c.7215-32C>G (n.7215-32C>G) c.7212-32C>G (n.7212-32C>G) c.667-32C>G n.7298-32C>G | gnomAD v4 |
19 | g.38499877T>A | CA2584900077 | RYR1 | c.7215-31T>A (n.7215-31T>A) c.7212-31T>A (n.7212-31T>A) c.667-31T>A n.7298-31T>A | gnomAD v4 |
19 | g.38499877T>C | CA2843262419 | RYR1 | c.7215-31T>C (n.7215-31T>C) c.7212-31T>C (n.7212-31T>C) c.667-31T>C n.7298-31T>C | |
19 | g.38499877T>G | CA2584900078 | RYR1 | c.7215-31T>G (n.7215-31T>G) c.7212-31T>G (n.7212-31T>G) c.667-31T>G n.7298-31T>G | gnomAD v4 |
19 | g.38499879C= | CA2335052990 | RYR1 | c.7215-29C= (n.7215-29C=) c.7212-29C= (n.7212-29C=) c.667-29C= n.7298-29C= | |
19 | g.38499879C>T | CA882051513 | RYR1 | c.7215-29C>T (n.7215-29C>T) c.7212-29C>T (n.7212-29C>T) c.667-29C>T n.7298-29C>T | dbSNP gnomAD v4 |
19 | g.38499880_38499881insACCCCCACCCCCC | CA2584900079 | RYR1 | c.7215-28_7215-27insACCCCCACCCCCC (n.7215-28_7215-27insACCCCCACCCCCC) c.7212-28_7212-27insACCCCCACCCCCC (n.7212-28_7212-27insACCCCCACCCCCC) c.667-28_667-27insACCCCCACCCCCC n.7298-28_7298-27insACCCCCACCCCCC | gnomAD v4 |