Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38499806_38499830delinsACCGGCGGCGCGAGCAGTGAGTCTC | CA2335052944 | RYR1 | c.7199_7214+9delinsACCGGCGGCGCGAGCAGTGAGTCTC c.7196_7211+9delinsACCGGCGGCGCGAGCAGTGAGTCTC c.651_666+9delinsACCGGCGGCGCGAGCAGTGAGTCTC n.7282_7297+9delinsACCGGCGGCGCGAGCAGTGAGTCTC | |
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.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 | 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.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 |