Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38584921_38584939delinsCCAGTGTGCTCCCCTCCCT | CA2335094909 | RYR1 | c.1583-22_1583-4delinsCCAGTGTGCTCCCCTCCCT c.2980-22_2980-4delinsCCAGTGTGCTCCCCTCCCT c.2952-22_2952-4delinsCCAGTGTGCTCCCCTCCCT n.18_36delinsCCAGTGTGCTCCCCTCCCT c.14647-22_14647-4delinsCCAGTGTGCTCCCCTCCCT (n.14647-22_14647-4delinsCCAGTGTGCTCCCCTCCCT) c.14632-22_14632-4delinsCCAGTGTGCTCCCCTCCCT (n.14632-22_14632-4delinsCCAGTGTGCTCCCCTCCCT) c.14629-22_14629-4delinsCCAGTGTGCTCCCCTCCCT (n.14629-22_14629-4delinsCCAGTGTGCTCCCCTCCCT) c.14614-22_14614-4delinsCCAGTGTGCTCCCCTCCCT (n.14614-22_14614-4delinsCCAGTGTGCTCCCCTCCCT) c.14644-22_14644-4delinsCCAGTGTGCTCCCCTCCCT (n.14644-22_14644-4delinsCCAGTGTGCTCCCCTCCCT) c.14560-22_14560-4delinsCCAGTGTGCTCCCCTCCCT (n.14560-22_14560-4delinsCCAGTGTGCTCCCCTCCCT) | |
19 | g.38584928_38584945del | CA915953039 | RYR1 | c.1583-15_1585del c.2980-15_2982del c.2952-15_2954del n.25_42del c.14647-15_14649del c.14632-15_14634del c.14629-15_14631del c.14614-15_14616del c.14644-15_14646del c.14560-15_14562del | ClinVar dbSNP |
19 | g.38584928G>C | CA995742888 | RYR1 | c.1583-15G>C c.2980-15G>C c.2952-15G>C n.25G>C c.14647-15G>C (n.14647-15G>C) c.14632-15G>C (n.14632-15G>C) c.14629-15G>C (n.14629-15G>C) c.14614-15G>C (n.14614-15G>C) c.14644-15G>C (n.14644-15G>C) c.14560-15G>C (n.14560-15G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38584928G= | CA2335094913 | RYR1 | c.1583-15G= c.2980-15G= c.2952-15G= n.25G= c.14647-15G= (n.14647-15G=) c.14632-15G= (n.14632-15G=) c.14629-15G= (n.14629-15G=) c.14614-15G= (n.14614-15G=) c.14644-15G= (n.14644-15G=) c.14560-15G= (n.14560-15G=) | |
19 | g.38584928G>T | CA2584911011 | RYR1 | c.1583-15G>T c.2980-15G>T c.2952-15G>T n.25G>T c.14647-15G>T (n.14647-15G>T) c.14632-15G>T (n.14632-15G>T) c.14629-15G>T (n.14629-15G>T) c.14614-15G>T (n.14614-15G>T) c.14644-15G>T (n.14644-15G>T) c.14560-15G>T (n.14560-15G>T) | gnomAD v4 |
19 | g.38584929C>T | CA2576827553 | RYR1 | c.1583-14C>T c.2980-14C>T c.2952-14C>T n.26C>T c.14647-14C>T (n.14647-14C>T) c.14632-14C>T (n.14632-14C>T) c.14629-14C>T (n.14629-14C>T) c.14614-14C>T (n.14614-14C>T) c.14644-14C>T (n.14644-14C>T) c.14560-14C>T (n.14560-14C>T) | ClinVar gnomAD v4 |
19 | g.38584930T>C | CA633066998 | RYR1 | c.1583-13T>C c.2980-13T>C c.2952-13T>C n.27T>C c.14647-13T>C (n.14647-13T>C) c.14632-13T>C (n.14632-13T>C) c.14629-13T>C (n.14629-13T>C) c.14614-13T>C (n.14614-13T>C) c.14644-13T>C (n.14644-13T>C) c.14560-13T>C (n.14560-13T>C) | ClinVar dbSNP gnomAD v2 |
19 | g.38584930T= | CA2335094914 | RYR1 | c.1583-13T= c.2980-13T= c.2952-13T= n.27T= c.14647-13T= (n.14647-13T=) c.14632-13T= (n.14632-13T=) c.14629-13T= (n.14629-13T=) c.14614-13T= (n.14614-13T=) c.14644-13T= (n.14644-13T=) c.14560-13T= (n.14560-13T=) | |
19 | g.38584931C= | CA2335094915 | RYR1 | c.1583-12C= c.2980-12C= c.2952-12C= n.28C= c.14647-12C= (n.14647-12C=) c.14632-12C= (n.14632-12C=) c.14629-12C= (n.14629-12C=) c.14614-12C= (n.14614-12C=) c.14644-12C= (n.14644-12C=) c.14560-12C= (n.14560-12C=) | |
19 | g.38584931C>G | CA061476 | RYR1 | c.1583-12C>G c.2980-12C>G c.2952-12C>G n.28C>G c.14647-12C>G (n.14647-12C>G) c.14632-12C>G (n.14632-12C>G) c.14629-12C>G (n.14629-12C>G) c.14614-12C>G (n.14614-12C>G) c.14644-12C>G (n.14644-12C>G) c.14560-12C>G (n.14560-12C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38584931C>T | CA633066999 | RYR1 | c.1583-12C>T c.2980-12C>T c.2952-12C>T n.28C>T c.14647-12C>T (n.14647-12C>T) c.14632-12C>T (n.14632-12C>T) c.14629-12C>T (n.14629-12C>T) c.14614-12C>T (n.14614-12C>T) c.14644-12C>T (n.14644-12C>T) c.14560-12C>T (n.14560-12C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38584934dup | CA2839279732 | RYR1 | c.1583-9dup c.2980-9dup c.2952-9dup n.31dup c.14647-9dup (n.14647-9dup) c.14632-9dup (n.14632-9dup) c.14629-9dup (n.14629-9dup) c.14614-9dup (n.14614-9dup) c.14644-9dup (n.14644-9dup) c.14560-9dup (n.14560-9dup) | |
19 | g.38584932C= | CA2335094916 | RYR1 | c.1583-11C= c.2980-11C= c.2952-11C= n.29C= c.14647-11C= (n.14647-11C=) c.14632-11C= (n.14632-11C=) c.14629-11C= (n.14629-11C=) c.14614-11C= (n.14614-11C=) c.14644-11C= (n.14644-11C=) c.14560-11C= (n.14560-11C=) | |
19 | g.38584932C>T | CA633067000 | RYR1 | c.1583-11C>T c.2980-11C>T c.2952-11C>T n.29C>T c.14647-11C>T (n.14647-11C>T) c.14632-11C>T (n.14632-11C>T) c.14629-11C>T (n.14629-11C>T) c.14614-11C>T (n.14614-11C>T) c.14644-11C>T (n.14644-11C>T) c.14560-11C>T (n.14560-11C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38584933C= | CA2335094917 | RYR1 | c.1583-10C= c.2980-10C= c.2952-10C= n.30C= c.14647-10C= (n.14647-10C=) c.14632-10C= (n.14632-10C=) c.14629-10C= (n.14629-10C=) c.14614-10C= (n.14614-10C=) c.14644-10C= (n.14644-10C=) c.14560-10C= (n.14560-10C=) | |
19 | g.38584933C>T | CA061475 | RYR1 | c.1583-10C>T c.2980-10C>T c.2952-10C>T n.30C>T c.14647-10C>T (n.14647-10C>T) c.14632-10C>T (n.14632-10C>T) c.14629-10C>T (n.14629-10C>T) c.14614-10C>T (n.14614-10C>T) c.14644-10C>T (n.14644-10C>T) c.14560-10C>T (n.14560-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38584934C>A | CA2838346203 | RYR1 | c.1583-9C>A c.2980-9C>A c.2952-9C>A n.31C>A c.14647-9C>A (n.14647-9C>A) c.14632-9C>A (n.14632-9C>A) c.14629-9C>A (n.14629-9C>A) c.14614-9C>A (n.14614-9C>A) c.14644-9C>A (n.14644-9C>A) c.14560-9C>A (n.14560-9C>A) | |
19 | g.38584934C= | CA2335094918 | RYR1 | c.1583-9C= c.2980-9C= c.2952-9C= n.31C= c.14647-9C= (n.14647-9C=) c.14632-9C= (n.14632-9C=) c.14629-9C= (n.14629-9C=) c.14614-9C= (n.14614-9C=) c.14644-9C= (n.14644-9C=) c.14560-9C= (n.14560-9C=) | |
19 | g.38584934C>G | CA081285 | RYR1 | c.1583-9C>G c.2980-9C>G c.2952-9C>G n.31C>G c.14647-9C>G (n.14647-9C>G) c.14632-9C>G (n.14632-9C>G) c.14629-9C>G (n.14629-9C>G) c.14614-9C>G (n.14614-9C>G) c.14644-9C>G (n.14644-9C>G) c.14560-9C>G (n.14560-9C>G) | |
19 | g.38584934C>T | CA633067001 | RYR1 | c.1583-9C>T c.2980-9C>T c.2952-9C>T n.31C>T c.14647-9C>T (n.14647-9C>T) c.14632-9C>T (n.14632-9C>T) c.14629-9C>T (n.14629-9C>T) c.14614-9C>T (n.14614-9C>T) c.14644-9C>T (n.14644-9C>T) c.14560-9C>T (n.14560-9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38584936C>T | CA081284 | RYR1 | c.1583-7C>T c.2980-7C>T c.2952-7C>T n.33C>T c.14647-7C>T (n.14647-7C>T) c.14632-7C>T (n.14632-7C>T) c.14629-7C>T (n.14629-7C>T) c.14614-7C>T (n.14614-7C>T) c.14644-7C>T (n.14644-7C>T) c.14560-7C>T (n.14560-7C>T) | |
19 | g.38584937C>T | CA645613557 | RYR1 | c.1583-6C>T c.2980-6C>T c.2952-6C>T n.34C>T c.14647-6C>T (n.14647-6C>T) c.14632-6C>T (n.14632-6C>T) c.14629-6C>T (n.14629-6C>T) c.14614-6C>T (n.14614-6C>T) c.14644-6C>T (n.14644-6C>T) c.14560-6C>T (n.14560-6C>T) | COSMIC |
19 | g.38584938C>A | CA2551948338 | RYR1 | c.1583-5C>A c.2980-5C>A c.2952-5C>A n.35C>A c.14647-5C>A (n.14647-5C>A) c.14632-5C>A (n.14632-5C>A) c.14629-5C>A (n.14629-5C>A) c.14614-5C>A (n.14614-5C>A) c.14644-5C>A (n.14644-5C>A) c.14560-5C>A (n.14560-5C>A) | |
19 | g.38584938C= | CA2335094919 | RYR1 | c.1583-5C= c.2980-5C= c.2952-5C= n.35C= c.14647-5C= (n.14647-5C=) c.14632-5C= (n.14632-5C=) c.14629-5C= (n.14629-5C=) c.14614-5C= (n.14614-5C=) c.14644-5C= (n.14644-5C=) c.14560-5C= (n.14560-5C=) | |
19 | g.38584938C>T | CA061492 | RYR1 | c.1583-5C>T c.2980-5C>T c.2952-5C>T n.35C>T c.14647-5C>T (n.14647-5C>T) c.14632-5C>T (n.14632-5C>T) c.14629-5C>T (n.14629-5C>T) c.14614-5C>T (n.14614-5C>T) c.14644-5C>T (n.14644-5C>T) c.14560-5C>T (n.14560-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38584938_38584942delinsCTCAG | CA2335094920 | RYR1 | c.1583-5_1583-1delinsCTCAG c.2980-5_2980-1delinsCTCAG c.2952-5_2952-1delinsCTCAG n.35_39delinsCTCAG c.14647-5_14647-1delinsCTCAG (n.14647-5_14647-1delinsCTCAG) c.14632-5_14632-1delinsCTCAG (n.14632-5_14632-1delinsCTCAG) c.14629-5_14629-1delinsCTCAG (n.14629-5_14629-1delinsCTCAG) c.14614-5_14614-1delinsCTCAG (n.14614-5_14614-1delinsCTCAG) c.14644-5_14644-1delinsCTCAG (n.14644-5_14644-1delinsCTCAG) c.14560-5_14560-1delinsCTCAG (n.14560-5_14560-1delinsCTCAG) | |
19 | g.38584939T>G | CA061490 | RYR1 | c.1583-4T>G c.2980-4T>G c.2952-4T>G n.36T>G c.14647-4T>G (n.14647-4T>G) c.14632-4T>G (n.14632-4T>G) c.14629-4T>G (n.14629-4T>G) c.14614-4T>G (n.14614-4T>G) c.14644-4T>G (n.14644-4T>G) c.14560-4T>G (n.14560-4T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38584939T= | CA2335094921 | RYR1 | c.1583-4T= c.2980-4T= c.2952-4T= n.36T= c.14647-4T= (n.14647-4T=) c.14632-4T= (n.14632-4T=) c.14629-4T= (n.14629-4T=) c.14614-4T= (n.14614-4T=) c.14644-4T= (n.14644-4T=) c.14560-4T= (n.14560-4T=) | |
19 | g.38584940_38584943del | CA633067002 | RYR1 | c.1583-3_1583del c.2980-3_2980del c.2952-3_2952del n.37_40del c.14647-3_14647del c.14632-3_14632del c.14629-3_14629del c.14614-3_14614del c.14644-3_14644del c.14560-3_14560del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38584940C= | CA2335094922 | RYR1 | c.1583-3C= c.2980-3C= c.2952-3C= n.37C= c.14647-3C= (n.14647-3C=) c.14632-3C= (n.14632-3C=) c.14629-3C= (n.14629-3C=) c.14614-3C= (n.14614-3C=) c.14644-3C= (n.14644-3C=) c.14560-3C= (n.14560-3C=) | |
19 | g.38584940C>G | CA915940775 | RYR1 | c.1583-3C>G c.2980-3C>G c.2952-3C>G n.37C>G c.14647-3C>G (n.14647-3C>G) c.14632-3C>G (n.14632-3C>G) c.14629-3C>G (n.14629-3C>G) c.14614-3C>G (n.14614-3C>G) c.14644-3C>G (n.14644-3C>G) c.14560-3C>G (n.14560-3C>G) | ClinVar dbSNP |
19 | g.38584940C>T | CA2335094923 | RYR1 | c.1583-3C>T c.2980-3C>T c.2952-3C>T n.37C>T c.14647-3C>T (n.14647-3C>T) c.14632-3C>T (n.14632-3C>T) c.14629-3C>T (n.14629-3C>T) c.14614-3C>T (n.14614-3C>T) c.14644-3C>T (n.14644-3C>T) c.14560-3C>T (n.14560-3C>T) | ClinVar dbSNP |
19 | g.38584941A>C | CA405689963 | RYR1 | c.1583-2A>C c.2980-2A>C c.2952-2A>C n.38A>C c.14647-2A>C (n.14647-2A>C) c.14632-2A>C (n.14632-2A>C) c.14629-2A>C (n.14629-2A>C) c.14614-2A>C (n.14614-2A>C) c.14644-2A>C (n.14644-2A>C) c.14560-2A>C (n.14560-2A>C) | |
19 | g.38584941A>G | CA405689969 | RYR1 | c.1583-2A>G c.2980-2A>G c.2952-2A>G n.38A>G c.14647-2A>G (n.14647-2A>G) c.14632-2A>G (n.14632-2A>G) c.14629-2A>G (n.14629-2A>G) c.14614-2A>G (n.14614-2A>G) c.14644-2A>G (n.14644-2A>G) c.14560-2A>G (n.14560-2A>G) | |
19 | g.38584941A>T | CA405689977 | RYR1 | c.1583-2A>T c.2980-2A>T c.2952-2A>T n.38A>T c.14647-2A>T (n.14647-2A>T) c.14632-2A>T (n.14632-2A>T) c.14629-2A>T (n.14629-2A>T) c.14614-2A>T (n.14614-2A>T) c.14644-2A>T (n.14644-2A>T) c.14560-2A>T (n.14560-2A>T) | |
19 | g.38584942G>A | CA308125416 | RYR1 | c.1583-1G>A c.2980-1G>A c.2952-1G>A n.39G>A c.14647-1G>A (n.14647-1G>A) c.14632-1G>A (n.14632-1G>A) c.14629-1G>A (n.14629-1G>A) c.14614-1G>A (n.14614-1G>A) c.14644-1G>A (n.14644-1G>A) c.14560-1G>A (n.14560-1G>A) | dbSNP |
19 | g.38584942G>C | CA405689987 | RYR1 | c.1583-1G>C c.2980-1G>C c.2952-1G>C n.39G>C c.14647-1G>C (n.14647-1G>C) c.14632-1G>C (n.14632-1G>C) c.14629-1G>C (n.14629-1G>C) c.14614-1G>C (n.14614-1G>C) c.14644-1G>C (n.14644-1G>C) c.14560-1G>C (n.14560-1G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38584942G= | CA2335094924 | RYR1 | c.1583-1G= c.2980-1G= c.2952-1G= n.39G= c.14647-1G= (n.14647-1G=) c.14632-1G= (n.14632-1G=) c.14629-1G= (n.14629-1G=) c.14614-1G= (n.14614-1G=) c.14644-1G= (n.14644-1G=) c.14560-1G= (n.14560-1G=) | |
19 | g.38584942G>T | CA405689991 | RYR1 | c.1583-1G>T c.2980-1G>T c.2952-1G>T n.39G>T c.14647-1G>T (n.14647-1G>T) c.14632-1G>T (n.14632-1G>T) c.14629-1G>T (n.14629-1G>T) c.14614-1G>T (n.14614-1G>T) c.14644-1G>T (n.14644-1G>T) c.14560-1G>T (n.14560-1G>T) | |
19 | g.38584943T>A | CA405689996 | RYR1 | c.1583T>A c.2980T>A c.2952T>A n.40T>A c.14647T>A (p.Cys4883Ser) c.14632T>A (p.Cys4878Ser) c.14629T>A (p.Cys4877Ser) c.14614T>A (p.Cys4872Ser) c.14644T>A (p.Cys4882Ser) c.14560T>A (p.Cys4854Ser) | ClinVar dbSNP |
19 | g.38584943T>C | CA405690008 | RYR1 | c.1583T>C c.2980T>C c.2952T>C n.40T>C c.14647T>C (p.Cys4883Arg) c.14632T>C (p.Cys4878Arg) c.14629T>C (p.Cys4877Arg) c.14614T>C (p.Cys4872Arg) c.14644T>C (p.Cys4882Arg) c.14560T>C (p.Cys4854Arg) | |
19 | g.38584943T>G | CA405689999 | RYR1 | c.1583T>G c.2980T>G c.2952T>G n.40T>G c.14647T>G (p.Cys4883Gly) c.14632T>G (p.Cys4878Gly) c.14629T>G (p.Cys4877Gly) c.14614T>G (p.Cys4872Gly) c.14644T>G (p.Cys4882Gly) c.14560T>G (p.Cys4854Gly) | |
19 | g.38584943T= | CA2335094925 | RYR1 | c.1583T= c.2980T= c.2952T= n.40T= c.14647T= (p.Cys4883=) c.14632T= (p.Cys4878=) c.14629T= (p.Cys4877=) c.14614T= (p.Cys4872=) c.14644T= (p.Cys4882=) c.14560T= (p.Cys4854=) | |
19 | g.38584944G>A | CA405690012 | RYR1 | c.1584G>A c.2981G>A c.2953G>A n.41G>A c.14648G>A (p.Cys4883Tyr) c.14633G>A (p.Cys4878Tyr) c.14630G>A (p.Cys4877Tyr) c.14615G>A (p.Cys4872Tyr) c.14645G>A (p.Cys4882Tyr) c.14561G>A (p.Cys4854Tyr) | |
19 | g.38584944G>C | CA405690021 | RYR1 | c.1584G>C c.2981G>C c.2953G>C n.41G>C c.14648G>C (p.Cys4883Ser) c.14633G>C (p.Cys4878Ser) c.14630G>C (p.Cys4877Ser) c.14615G>C (p.Cys4872Ser) c.14645G>C (p.Cys4882Ser) c.14561G>C (p.Cys4854Ser) | |
19 | g.38584944G>T | CA405690014 | RYR1 | c.1584G>T c.2981G>T c.2953G>T n.41G>T c.14648G>T (p.Cys4883Phe) c.14633G>T (p.Cys4878Phe) c.14630G>T (p.Cys4877Phe) c.14615G>T (p.Cys4872Phe) c.14645G>T (p.Cys4882Phe) c.14561G>T (p.Cys4854Phe) | |
19 | g.38584945T>A | CA405690025 | RYR1 | c.1585T>A c.2982T>A c.2954T>A n.42T>A c.14649T>A (p.Cys4883Ter) c.14634T>A (p.Cys4878Ter) c.14631T>A (p.Cys4877Ter) c.14616T>A (p.Cys4872Ter) c.14646T>A (p.Cys4882Ter) c.14562T>A (p.Cys4854Ter) | |
19 | g.38584945T>C | CA061498 | RYR1 | c.1585T>C c.2982T>C c.2954T>C n.42T>C c.14649T>C (p.Cys4883=) c.14634T>C (p.Cys4878=) c.14631T>C (p.Cys4877=) c.14616T>C (p.Cys4872=) c.14646T>C (p.Cys4882=) c.14562T>C (p.Cys4854=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38584945T>G | CA405690032 | RYR1 | c.1585T>G c.2982T>G c.2954T>G n.42T>G c.14649T>G (p.Cys4883Trp) c.14634T>G (p.Cys4878Trp) c.14631T>G (p.Cys4877Trp) c.14616T>G (p.Cys4872Trp) c.14646T>G (p.Cys4882Trp) c.14562T>G (p.Cys4854Trp) | |
19 | g.38584945T= | CA2335094926 | RYR1 | c.1585T= c.2982T= c.2954T= n.42T= c.14649T= (p.Cys4883=) c.14634T= (p.Cys4878=) c.14631T= (p.Cys4877=) c.14616T= (p.Cys4872=) c.14646T= (p.Cys4882=) c.14562T= (p.Cys4854=) | |
19 | g.38584946T>A | CA405690035 | RYR1 | c.1586T>A c.2983T>A c.2955T>A n.43T>A c.14650T>A (p.Tyr4884Asn) c.14635T>A (p.Tyr4879Asn) c.14632T>A (p.Tyr4878Asn) c.14617T>A (p.Tyr4873Asn) c.14647T>A (p.Tyr4883Asn) c.14563T>A (p.Tyr4855Asn) | |
19 | g.38584946T>C | CA405690038 | RYR1 | c.1586T>C c.2983T>C c.2955T>C n.43T>C c.14650T>C (p.Tyr4884His) c.14635T>C (p.Tyr4879His) c.14632T>C (p.Tyr4878His) c.14617T>C (p.Tyr4873His) c.14647T>C (p.Tyr4883His) c.14563T>C (p.Tyr4855His) | ClinVar dbSNP |
19 | g.38584946T>G | CA405690041 | RYR1 | c.1586T>G c.2983T>G c.2955T>G n.43T>G c.14650T>G (p.Tyr4884Asp) c.14635T>G (p.Tyr4879Asp) c.14632T>G (p.Tyr4878Asp) c.14617T>G (p.Tyr4873Asp) c.14647T>G (p.Tyr4883Asp) c.14563T>G (p.Tyr4855Asp) | |
19 | g.38584947A>C | CA405690044 | RYR1 | c.1587A>C c.2984A>C c.2956A>C n.44A>C c.14651A>C (p.Tyr4884Ser) c.14636A>C (p.Tyr4879Ser) c.14633A>C (p.Tyr4878Ser) c.14618A>C (p.Tyr4873Ser) c.14648A>C (p.Tyr4883Ser) c.14564A>C (p.Tyr4855Ser) | |
19 | g.38584947A>G | CA405690045 | RYR1 | c.1587A>G c.2984A>G c.2956A>G n.44A>G c.14651A>G (p.Tyr4884Cys) c.14636A>G (p.Tyr4879Cys) c.14633A>G (p.Tyr4878Cys) c.14618A>G (p.Tyr4873Cys) c.14648A>G (p.Tyr4883Cys) c.14564A>G (p.Tyr4855Cys) | |
19 | g.38584947A>T | CA405690049 | RYR1 | c.1587A>T c.2984A>T c.2956A>T n.44A>T c.14651A>T (p.Tyr4884Phe) c.14636A>T (p.Tyr4879Phe) c.14633A>T (p.Tyr4878Phe) c.14618A>T (p.Tyr4873Phe) c.14648A>T (p.Tyr4883Phe) c.14564A>T (p.Tyr4855Phe) | |
19 | g.38584948C>A | CA405690050 | RYR1 | c.1588C>A c.2985C>A c.2957C>A n.45C>A c.14652C>A (p.Tyr4884Ter) c.14637C>A (p.Tyr4879Ter) c.14634C>A (p.Tyr4878Ter) c.14619C>A (p.Tyr4873Ter) c.14649C>A (p.Tyr4883Ter) c.14565C>A (p.Tyr4855Ter) | |
19 | g.38584948C>G | CA405690051 | RYR1 | c.1588C>G c.2985C>G c.2957C>G n.45C>G c.14652C>G (p.Tyr4884Ter) c.14637C>G (p.Tyr4879Ter) c.14634C>G (p.Tyr4878Ter) c.14619C>G (p.Tyr4873Ter) c.14649C>G (p.Tyr4883Ter) c.14565C>G (p.Tyr4855Ter) | gnomAD v4 |
19 | g.38584948C>T | CA507246300 | RYR1 | c.1588C>T c.2985C>T c.2957C>T n.45C>T c.14652C>T (p.Tyr4884=) c.14637C>T (p.Tyr4879=) c.14634C>T (p.Tyr4878=) c.14619C>T (p.Tyr4873=) c.14649C>T (p.Tyr4883=) c.14565C>T (p.Tyr4855=) | ClinVar gnomAD v4 |
19 | g.38584949C>A | CA405690053 | RYR1 | c.1589C>A c.2986C>A c.2958C>A n.46C>A c.14653C>A (p.Leu4885Met) c.14638C>A (p.Leu4880Met) c.14635C>A (p.Leu4879Met) c.14620C>A (p.Leu4874Met) c.14650C>A (p.Leu4884Met) c.14566C>A (p.Leu4856Met) | |
19 | g.38584949C= | CA2335094927 | RYR1 | c.1589C= c.2986C= c.2958C= n.46C= c.14653C= (p.Leu4885=) c.14638C= (p.Leu4880=) c.14635C= (p.Leu4879=) c.14620C= (p.Leu4874=) c.14650C= (p.Leu4884=) c.14566C= (p.Leu4856=) | |
19 | g.38584949C>G | CA405690052 | RYR1 | c.1589C>G c.2986C>G c.2958C>G n.46C>G c.14653C>G (p.Leu4885Val) c.14638C>G (p.Leu4880Val) c.14635C>G (p.Leu4879Val) c.14620C>G (p.Leu4874Val) c.14650C>G (p.Leu4884Val) c.14566C>G (p.Leu4856Val) | gnomAD v4 |
19 | g.38584949C>T | CA061500 | RYR1 | c.1589C>T c.2986C>T c.2958C>T n.46C>T c.14653C>T (p.Leu4885=) c.14638C>T (p.Leu4880=) c.14635C>T (p.Leu4879=) c.14620C>T (p.Leu4874=) c.14650C>T (p.Leu4884=) c.14566C>T (p.Leu4856=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38584950T>A | CA405690058 | RYR1 | c.1590T>A c.2987T>A c.2959T>A n.47T>A c.14654T>A (p.Leu4885Gln) c.14639T>A (p.Leu4880Gln) c.14636T>A (p.Leu4879Gln) c.14621T>A (p.Leu4874Gln) c.14651T>A (p.Leu4884Gln) c.14567T>A (p.Leu4856Gln) | |
19 | g.38584950T>C | CA405690066 | RYR1 | c.1590T>C c.2987T>C c.2959T>C n.47T>C c.14654T>C (p.Leu4885Pro) c.14639T>C (p.Leu4880Pro) c.14636T>C (p.Leu4879Pro) c.14621T>C (p.Leu4874Pro) c.14651T>C (p.Leu4884Pro) c.14567T>C (p.Leu4856Pro) | |
19 | g.38584950T>G | CA405690070 | RYR1 | c.1590T>G c.2987T>G c.2959T>G n.47T>G c.14654T>G (p.Leu4885Arg) c.14639T>G (p.Leu4880Arg) c.14636T>G (p.Leu4879Arg) c.14621T>G (p.Leu4874Arg) c.14651T>G (p.Leu4884Arg) c.14567T>G (p.Leu4856Arg) | |
19 | g.38584951G>A | CA507246304 | RYR1 | c.1591G>A c.2988G>A c.2960G>A n.48G>A c.14655G>A (p.Leu4885=) c.14640G>A (p.Leu4880=) c.14637G>A (p.Leu4879=) c.14622G>A (p.Leu4874=) c.14652G>A (p.Leu4884=) c.14568G>A (p.Leu4856=) | |
19 | g.38584951G>C | CA507246306 | RYR1 | c.1591G>C c.2988G>C c.2960G>C n.48G>C c.14655G>C (p.Leu4885=) c.14640G>C (p.Leu4880=) c.14637G>C (p.Leu4879=) c.14622G>C (p.Leu4874=) c.14652G>C (p.Leu4884=) c.14568G>C (p.Leu4856=) | COSMIC |
19 | g.38584951G>T | CA507246305 | RYR1 | c.1591G>T c.2988G>T c.2960G>T n.48G>T c.14655G>T (p.Leu4885=) c.14640G>T (p.Leu4880=) c.14637G>T (p.Leu4879=) c.14622G>T (p.Leu4874=) c.14652G>T (p.Leu4884=) c.14568G>T (p.Leu4856=) | |
19 | g.38584952T>A | CA405690073 | RYR1 | c.1592T>A c.2989T>A c.2961T>A n.49T>A c.14656T>A (p.Phe4886Ile) c.14641T>A (p.Phe4881Ile) c.14638T>A (p.Phe4880Ile) c.14623T>A (p.Phe4875Ile) c.14653T>A (p.Phe4885Ile) c.14569T>A (p.Phe4857Ile) | |
19 | g.38584952T>C | CA405690076 | RYR1 | c.1592T>C c.2989T>C c.2961T>C n.49T>C c.14656T>C (p.Phe4886Leu) c.14641T>C (p.Phe4881Leu) c.14638T>C (p.Phe4880Leu) c.14623T>C (p.Phe4875Leu) c.14653T>C (p.Phe4885Leu) c.14569T>C (p.Phe4857Leu) | |
19 | g.38584952T>G | CA405690084 | RYR1 | c.1592T>G c.2989T>G c.2961T>G n.49T>G c.14656T>G (p.Phe4886Val) c.14641T>G (p.Phe4881Val) c.14638T>G (p.Phe4880Val) c.14623T>G (p.Phe4875Val) c.14653T>G (p.Phe4885Val) c.14569T>G (p.Phe4857Val) | |
19 | g.38584953T>A | CA405690087 | RYR1 | c.1593T>A c.2990T>A c.2962T>A n.50T>A c.14657T>A (p.Phe4886Tyr) c.14642T>A (p.Phe4881Tyr) c.14639T>A (p.Phe4880Tyr) c.14624T>A (p.Phe4875Tyr) c.14654T>A (p.Phe4885Tyr) c.14570T>A (p.Phe4857Tyr) | |
19 | g.38584953T>C | CA405690091 | RYR1 | c.1593T>C c.2990T>C c.2962T>C n.50T>C c.14657T>C (p.Phe4886Ser) c.14642T>C (p.Phe4881Ser) c.14639T>C (p.Phe4880Ser) c.14624T>C (p.Phe4875Ser) c.14654T>C (p.Phe4885Ser) c.14570T>C (p.Phe4857Ser) | |
19 | g.38584953T>G | CA405690093 | RYR1 | c.1593T>G c.2990T>G c.2962T>G n.50T>G c.14657T>G (p.Phe4886Cys) c.14642T>G (p.Phe4881Cys) c.14639T>G (p.Phe4880Cys) c.14624T>G (p.Phe4875Cys) c.14654T>G (p.Phe4885Cys) c.14570T>G (p.Phe4857Cys) | |
19 | g.38584954T>A | CA405690098 | RYR1 | c.1594T>A c.2991T>A c.2963T>A n.51T>A c.14658T>A (p.Phe4886Leu) c.14643T>A (p.Phe4881Leu) c.14640T>A (p.Phe4880Leu) c.14625T>A (p.Phe4875Leu) c.14655T>A (p.Phe4885Leu) c.14571T>A (p.Phe4857Leu) | |
19 | g.38584954T>C | CA308125432 | RYR1 | c.1594T>C c.2991T>C c.2963T>C n.51T>C c.14658T>C (p.Phe4886=) c.14643T>C (p.Phe4881=) c.14640T>C (p.Phe4880=) c.14625T>C (p.Phe4875=) c.14655T>C (p.Phe4885=) c.14571T>C (p.Phe4857=) | ClinVar dbSNP gnomAD v4 |
19 | g.38584954T>G | CA405690100 | RYR1 | c.1594T>G c.2991T>G c.2963T>G n.51T>G c.14658T>G (p.Phe4886Leu) c.14643T>G (p.Phe4881Leu) c.14640T>G (p.Phe4880Leu) c.14625T>G (p.Phe4875Leu) c.14655T>G (p.Phe4885Leu) c.14571T>G (p.Phe4857Leu) | |
19 | g.38584954T= | CA2335094928 | RYR1 | c.1594T= c.2991T= c.2963T= n.51T= c.14658T= (p.Phe4886=) c.14643T= (p.Phe4881=) c.14640T= (p.Phe4880=) c.14625T= (p.Phe4875=) c.14655T= (p.Phe4885=) c.14571T= (p.Phe4857=) | |
19 | g.38584955C>A | CA405690105 | RYR1 | c.1595C>A c.2992C>A c.2964C>A n.52C>A c.14659C>A (p.His4887Asn) c.14644C>A (p.His4882Asn) c.14641C>A (p.His4881Asn) c.14626C>A (p.His4876Asn) c.14656C>A (p.His4886Asn) c.14572C>A (p.His4858Asn) | |
19 | g.38584955C= | CA2335094929 | RYR1 | c.1595C= c.2992C= c.2964C= n.52C= c.14659C= (p.His4887=) c.14644C= (p.His4882=) c.14641C= (p.His4881=) c.14626C= (p.His4876=) c.14656C= (p.His4886=) c.14572C= (p.His4858=) | |
19 | g.38584955C>G | CA405690108 | RYR1 | c.1595C>G c.2992C>G c.2964C>G n.52C>G c.14659C>G (p.His4887Asp) c.14644C>G (p.His4882Asp) c.14641C>G (p.His4881Asp) c.14626C>G (p.His4876Asp) c.14656C>G (p.His4886Asp) c.14572C>G (p.His4858Asp) | dbSNP |
19 | g.38584955C>T | CA024212 | RYR1 | c.1595C>T c.2992C>T c.2964C>T n.52C>T c.14659C>T (p.His4887Tyr) c.14644C>T (p.His4882Tyr) c.14641C>T (p.His4881Tyr) c.14626C>T (p.His4876Tyr) c.14656C>T (p.His4886Tyr) c.14572C>T (p.His4858Tyr) | ClinVar dbSNP gnomAD v2 |
19 | g.38584956A= | CA2335094930 | RYR1 | c.1596A= c.2993A= c.2965A= n.53A= c.14660A= (p.His4887=) c.14645A= (p.His4882=) c.14642A= (p.His4881=) c.14627A= (p.His4876=) c.14657A= (p.His4886=) c.14573A= (p.His4858=) | |
19 | g.38584956A>C | CA405690112 | RYR1 | c.1596A>C c.2993A>C c.2965A>C n.53A>C c.14660A>C (p.His4887Pro) c.14645A>C (p.His4882Pro) c.14642A>C (p.His4881Pro) c.14627A>C (p.His4876Pro) c.14657A>C (p.His4886Pro) c.14573A>C (p.His4858Pro) | |
19 | g.38584956A>G | CA405690116 | RYR1 | c.1596A>G c.2993A>G c.2965A>G n.53A>G c.14660A>G (p.His4887Arg) c.14645A>G (p.His4882Arg) c.14642A>G (p.His4881Arg) c.14627A>G (p.His4876Arg) c.14657A>G (p.His4886Arg) c.14573A>G (p.His4858Arg) | |
19 | g.38584956A>T | CA405690118 | RYR1 | c.1596A>T c.2993A>T c.2965A>T n.53A>T c.14660A>T (p.His4887Leu) c.14645A>T (p.His4882Leu) c.14642A>T (p.His4881Leu) c.14627A>T (p.His4876Leu) c.14657A>T (p.His4886Leu) c.14573A>T (p.His4858Leu) | ClinVar dbSNP |
19 | g.38584957C>A | CA081274 | RYR1 | c.1597C>A c.2994C>A c.2966C>A n.54C>A c.14661C>A (p.His4887Gln) c.14646C>A (p.His4882Gln) c.14643C>A (p.His4881Gln) c.14628C>A (p.His4876Gln) c.14658C>A (p.His4886Gln) c.14574C>A (p.His4858Gln) | |
19 | g.38584957C>G | CA405690125 | RYR1 | c.1597C>G c.2994C>G c.2966C>G n.54C>G c.14661C>G (p.His4887Gln) c.14646C>G (p.His4882Gln) c.14643C>G (p.His4881Gln) c.14628C>G (p.His4876Gln) c.14658C>G (p.His4886Gln) c.14574C>G (p.His4858Gln) | |
19 | g.38584957C>T | CA081275 | RYR1 | c.1597C>T c.2994C>T c.2966C>T n.54C>T c.14661C>T (p.His4887=) c.14646C>T (p.His4882=) c.14643C>T (p.His4881=) c.14628C>T (p.His4876=) c.14658C>T (p.His4886=) c.14574C>T (p.His4858=) | |
19 | g.38584958A= | CA2335094931 | RYR1 | c.1598A= c.2995A= c.2967A= n.55A= c.14662A= (p.Met4888=) c.14647A= (p.Met4883=) c.14644A= (p.Met4882=) c.14629A= (p.Met4877=) c.14659A= (p.Met4887=) c.14575A= (p.Met4859=) | |
19 | g.38584958A>C | CA405690134 | RYR1 | c.1598A>C c.2995A>C c.2967A>C n.55A>C c.14662A>C (p.Met4888Leu) c.14647A>C (p.Met4883Leu) c.14644A>C (p.Met4882Leu) c.14629A>C (p.Met4877Leu) c.14659A>C (p.Met4887Leu) c.14575A>C (p.Met4859Leu) | |
19 | g.38584958A>G | CA405690133 | RYR1 | c.1598A>G c.2995A>G c.2967A>G n.55A>G c.14662A>G (p.Met4888Val) c.14647A>G (p.Met4883Val) c.14644A>G (p.Met4882Val) c.14629A>G (p.Met4877Val) c.14659A>G (p.Met4887Val) c.14575A>G (p.Met4859Val) | ClinVar dbSNP |
19 | g.38584958A>T | CA405690131 | RYR1 | c.1598A>T c.2995A>T c.2967A>T n.55A>T c.14662A>T (p.Met4888Leu) c.14647A>T (p.Met4883Leu) c.14644A>T (p.Met4882Leu) c.14629A>T (p.Met4877Leu) c.14659A>T (p.Met4887Leu) c.14575A>T (p.Met4859Leu) | |
19 | g.38584959T>A | CA405690137 | RYR1 | c.1599T>A c.2996T>A c.2968T>A n.56T>A c.14663T>A (p.Met4888Lys) c.14648T>A (p.Met4883Lys) c.14645T>A (p.Met4882Lys) c.14630T>A (p.Met4877Lys) c.14660T>A (p.Met4887Lys) c.14576T>A (p.Met4859Lys) | |
19 | g.38584959T>C | CA405690140 | RYR1 | c.1599T>C c.2996T>C c.2968T>C n.56T>C c.14663T>C (p.Met4888Thr) c.14648T>C (p.Met4883Thr) c.14645T>C (p.Met4882Thr) c.14630T>C (p.Met4877Thr) c.14660T>C (p.Met4887Thr) c.14576T>C (p.Met4859Thr) | |
19 | g.38584959T>G | CA405690142 | RYR1 | c.1599T>G c.2996T>G c.2968T>G n.56T>G c.14663T>G (p.Met4888Arg) c.14648T>G (p.Met4883Arg) c.14645T>G (p.Met4882Arg) c.14630T>G (p.Met4877Arg) c.14660T>G (p.Met4887Arg) c.14576T>G (p.Met4859Arg) | |
19 | g.38584960G>A | CA405690146 | RYR1 | c.1600G>A c.2997G>A c.2969G>A n.57G>A c.14664G>A (p.Met4888Ile) c.14649G>A (p.Met4883Ile) c.14646G>A (p.Met4882Ile) c.14631G>A (p.Met4877Ile) c.14661G>A (p.Met4887Ile) c.14577G>A (p.Met4859Ile) | |
19 | g.38584960G>C | CA405690151 | RYR1 | c.1600G>C c.2997G>C c.2969G>C n.57G>C c.14664G>C (p.Met4888Ile) c.14649G>C (p.Met4883Ile) c.14646G>C (p.Met4882Ile) c.14631G>C (p.Met4877Ile) c.14661G>C (p.Met4887Ile) c.14577G>C (p.Met4859Ile) | |
19 | g.38584960G>T | CA405690153 | RYR1 | c.1600G>T c.2997G>T c.2969G>T n.57G>T c.14664G>T (p.Met4888Ile) c.14649G>T (p.Met4883Ile) c.14646G>T (p.Met4882Ile) c.14631G>T (p.Met4877Ile) c.14661G>T (p.Met4887Ile) c.14577G>T (p.Met4859Ile) | |
19 | g.38584961T>A | CA405690167 | RYR1 | c.1601T>A c.2998T>A c.2970T>A n.58T>A c.14665T>A (p.Tyr4889Asn) c.14650T>A (p.Tyr4884Asn) c.14647T>A (p.Tyr4883Asn) c.14632T>A (p.Tyr4878Asn) c.14662T>A (p.Tyr4888Asn) c.14578T>A (p.Tyr4860Asn) | |
19 | g.38584961T>C | CA405690173 | RYR1 | c.1601T>C c.2998T>C c.2970T>C n.58T>C c.14665T>C (p.Tyr4889His) c.14650T>C (p.Tyr4884His) c.14647T>C (p.Tyr4883His) c.14632T>C (p.Tyr4878His) c.14662T>C (p.Tyr4888His) c.14578T>C (p.Tyr4860His) | |
19 | g.38584961T>G | CA405690171 | RYR1 | c.1601T>G c.2998T>G c.2970T>G n.58T>G c.14665T>G (p.Tyr4889Asp) c.14650T>G (p.Tyr4884Asp) c.14647T>G (p.Tyr4883Asp) c.14632T>G (p.Tyr4878Asp) c.14662T>G (p.Tyr4888Asp) c.14578T>G (p.Tyr4860Asp) | |
19 | g.38584962A>C | CA405690179 | RYR1 | c.1602A>C c.2999A>C c.2971A>C n.59A>C c.14666A>C (p.Tyr4889Ser) c.14651A>C (p.Tyr4884Ser) c.14648A>C (p.Tyr4883Ser) c.14633A>C (p.Tyr4878Ser) c.14663A>C (p.Tyr4888Ser) c.14579A>C (p.Tyr4860Ser) | |
19 | g.38584962A>G | CA405690182 | RYR1 | c.1602A>G c.2999A>G c.2971A>G n.59A>G c.14666A>G (p.Tyr4889Cys) c.14651A>G (p.Tyr4884Cys) c.14648A>G (p.Tyr4883Cys) c.14633A>G (p.Tyr4878Cys) c.14663A>G (p.Tyr4888Cys) c.14579A>G (p.Tyr4860Cys) | |
19 | g.38584962A>T | CA405690184 | RYR1 | c.1602A>T c.2999A>T c.2971A>T n.59A>T c.14666A>T (p.Tyr4889Phe) c.14651A>T (p.Tyr4884Phe) c.14648A>T (p.Tyr4883Phe) c.14633A>T (p.Tyr4878Phe) c.14663A>T (p.Tyr4888Phe) c.14579A>T (p.Tyr4860Phe) | |
19 | g.38584963C>A | CA405690192 | RYR1 | c.1603C>A c.3000C>A c.2972C>A n.60C>A c.14667C>A (p.Tyr4889Ter) c.14652C>A (p.Tyr4884Ter) c.14649C>A (p.Tyr4883Ter) c.14634C>A (p.Tyr4878Ter) c.14664C>A (p.Tyr4888Ter) c.14580C>A (p.Tyr4860Ter) | ClinVar dbSNP gnomAD v4 |
19 | g.38584963C= | CA2335094932 | RYR1 | c.1603C= c.3000C= c.2972C= n.60C= c.14667C= (p.Tyr4889=) c.14652C= (p.Tyr4884=) c.14649C= (p.Tyr4883=) c.14634C= (p.Tyr4878=) c.14664C= (p.Tyr4888=) c.14580C= (p.Tyr4860=) | |
19 | g.38584963C>G | CA024213 | RYR1 | c.1603C>G c.3000C>G c.2972C>G n.60C>G c.14667C>G (p.Tyr4889Ter) c.14652C>G (p.Tyr4884Ter) c.14649C>G (p.Tyr4883Ter) c.14634C>G (p.Tyr4878Ter) c.14664C>G (p.Tyr4888Ter) c.14580C>G (p.Tyr4860Ter) | ClinVar dbSNP |
19 | g.38584963C>T | CA061506 | RYR1 | c.1603C>T c.3000C>T c.2972C>T n.60C>T c.14667C>T (p.Tyr4889=) c.14652C>T (p.Tyr4884=) c.14649C>T (p.Tyr4883=) c.14634C>T (p.Tyr4878=) c.14664C>T (p.Tyr4888=) c.14580C>T (p.Tyr4860=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38584964G>A | CA405690210 | RYR1 | c.1604G>A c.3001G>A c.2973G>A n.61G>A c.14668G>A (p.Val4890Met) c.14653G>A (p.Val4885Met) c.14650G>A (p.Val4884Met) c.14635G>A (p.Val4879Met) c.14665G>A (p.Val4889Met) c.14581G>A (p.Val4861Met) | ClinVar dbSNP gnomAD v4 |
19 | g.38584964G>C | CA405690211 | RYR1 | c.1604G>C c.3001G>C c.2973G>C n.61G>C c.14668G>C (p.Val4890Leu) c.14653G>C (p.Val4885Leu) c.14650G>C (p.Val4884Leu) c.14635G>C (p.Val4879Leu) c.14665G>C (p.Val4889Leu) c.14581G>C (p.Val4861Leu) | |
19 | g.38584964G= | CA2335094933 | RYR1 | c.1604G= c.3001G= c.2973G= n.61G= c.14668G= (p.Val4890=) c.14653G= (p.Val4885=) c.14650G= (p.Val4884=) c.14635G= (p.Val4879=) c.14665G= (p.Val4889=) c.14581G= (p.Val4861=) | |
19 | g.38584964G>T | CA405690212 | RYR1 | c.1604G>T c.3001G>T c.2973G>T n.61G>T c.14668G>T (p.Val4890Leu) c.14653G>T (p.Val4885Leu) c.14650G>T (p.Val4884Leu) c.14635G>T (p.Val4879Leu) c.14665G>T (p.Val4889Leu) c.14581G>T (p.Val4861Leu) | |
19 | g.38584965T>A | CA405690213 | RYR1 | c.1605T>A c.3002T>A c.2974T>A n.62T>A c.14669T>A (p.Val4890Glu) c.14654T>A (p.Val4885Glu) c.14651T>A (p.Val4884Glu) c.14636T>A (p.Val4879Glu) c.14666T>A (p.Val4889Glu) c.14582T>A (p.Val4861Glu) | |
19 | g.38584965T>C | CA405690215 | RYR1 | c.1605T>C c.3002T>C c.2974T>C n.62T>C c.14669T>C (p.Val4890Ala) c.14654T>C (p.Val4885Ala) c.14651T>C (p.Val4884Ala) c.14636T>C (p.Val4879Ala) c.14666T>C (p.Val4889Ala) c.14582T>C (p.Val4861Ala) | |
19 | g.38584965T>G | CA405690218 | RYR1 | c.1605T>G c.3002T>G c.2974T>G n.62T>G c.14669T>G (p.Val4890Gly) c.14654T>G (p.Val4885Gly) c.14651T>G (p.Val4884Gly) c.14636T>G (p.Val4879Gly) c.14666T>G (p.Val4889Gly) c.14582T>G (p.Val4861Gly) | |
19 | g.38584966G>A | CA507246313 | RYR1 | c.1606G>A c.3003G>A c.2975G>A n.63G>A c.14670G>A (p.Val4890=) c.14655G>A (p.Val4885=) c.14652G>A (p.Val4884=) c.14637G>A (p.Val4879=) c.14667G>A (p.Val4889=) c.14583G>A (p.Val4861=) | |
19 | g.38584966G>C | CA061510 | RYR1 | c.1606G>C c.3003G>C c.2975G>C n.63G>C c.14670G>C (p.Val4890=) c.14655G>C (p.Val4885=) c.14652G>C (p.Val4884=) c.14637G>C (p.Val4879=) c.14667G>C (p.Val4889=) c.14583G>C (p.Val4861=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38584966G= | CA2335094934 | RYR1 | c.1606G= c.3003G= c.2975G= n.63G= c.14670G= (p.Val4890=) c.14655G= (p.Val4885=) c.14652G= (p.Val4884=) c.14637G= (p.Val4879=) c.14667G= (p.Val4889=) c.14583G= (p.Val4861=) | |
19 | g.38584966G>T | CA507246314 | RYR1 | c.1606G>T c.3003G>T c.2975G>T n.63G>T c.14670G>T (p.Val4890=) c.14655G>T (p.Val4885=) c.14652G>T (p.Val4884=) c.14637G>T (p.Val4879=) c.14667G>T (p.Val4889=) c.14583G>T (p.Val4861=) | COSMIC |
19 | g.38584967G>A | CA405690221 | RYR1 | c.1607G>A c.3004G>A c.2976G>A n.64G>A c.14671G>A (p.Gly4891Ser) c.14656G>A (p.Gly4886Ser) c.14653G>A (p.Gly4885Ser) c.14638G>A (p.Gly4880Ser) c.14668G>A (p.Gly4890Ser) c.14584G>A (p.Gly4862Ser) | |
19 | g.38584967G>C | CA024215 | RYR1 | c.1607G>C c.3004G>C c.2976G>C n.64G>C c.14671G>C (p.Gly4891Arg) c.14656G>C (p.Gly4886Arg) c.14653G>C (p.Gly4885Arg) c.14638G>C (p.Gly4880Arg) c.14668G>C (p.Gly4890Arg) c.14584G>C (p.Gly4862Arg) | ClinVar dbSNP |
19 | g.38584967G= | CA2335094935 | RYR1 | c.1607G= c.3004G= c.2976G= n.64G= c.14671G= (p.Gly4891=) c.14656G= (p.Gly4886=) c.14653G= (p.Gly4885=) c.14638G= (p.Gly4880=) c.14668G= (p.Gly4890=) c.14584G= (p.Gly4862=) | |
19 | g.38584967G>T | CA405690223 | RYR1 | c.1607G>T c.3004G>T c.2976G>T n.64G>T c.14671G>T (p.Gly4891Cys) c.14656G>T (p.Gly4886Cys) c.14653G>T (p.Gly4885Cys) c.14638G>T (p.Gly4880Cys) c.14668G>T (p.Gly4890Cys) c.14584G>T (p.Gly4862Cys) | |
19 | g.38584968G>A | CA024218 | RYR1 | c.1608G>A c.3005G>A c.2977G>A n.65G>A c.14672G>A (p.Gly4891Asp) c.14657G>A (p.Gly4886Asp) c.14654G>A (p.Gly4885Asp) c.14639G>A (p.Gly4880Asp) c.14669G>A (p.Gly4890Asp) c.14585G>A (p.Gly4862Asp) | ClinVar dbSNP |
19 | g.38584968G>C | CA405690230 | RYR1 | c.1608G>C c.3005G>C c.2977G>C n.65G>C c.14672G>C (p.Gly4891Ala) c.14657G>C (p.Gly4886Ala) c.14654G>C (p.Gly4885Ala) c.14639G>C (p.Gly4880Ala) c.14669G>C (p.Gly4890Ala) c.14585G>C (p.Gly4862Ala) | |
19 | g.38584968G= | CA2335094936 | RYR1 | c.1608G= c.3005G= c.2977G= n.65G= c.14672G= (p.Gly4891=) c.14657G= (p.Gly4886=) c.14654G= (p.Gly4885=) c.14639G= (p.Gly4880=) c.14669G= (p.Gly4890=) c.14585G= (p.Gly4862=) | |
19 | g.38584968G>T | CA405690233 | RYR1 | c.1608G>T c.3005G>T c.2977G>T n.65G>T c.14672G>T (p.Gly4891Val) c.14657G>T (p.Gly4886Val) c.14654G>T (p.Gly4885Val) c.14639G>T (p.Gly4880Val) c.14669G>T (p.Gly4890Val) c.14585G>T (p.Gly4862Val) | |
19 | g.38584969T>A | CA507246316 | RYR1 | c.1609T>A c.3006T>A c.2978T>A n.66T>A c.14673T>A (p.Gly4891=) c.14658T>A (p.Gly4886=) c.14655T>A (p.Gly4885=) c.14640T>A (p.Gly4880=) c.14670T>A (p.Gly4890=) c.14586T>A (p.Gly4862=) | |
19 | g.38584969T>C | CA507246317 | RYR1 | c.1609T>C c.3006T>C c.2978T>C n.66T>C c.14673T>C (p.Gly4891=) c.14658T>C (p.Gly4886=) c.14655T>C (p.Gly4885=) c.14640T>C (p.Gly4880=) c.14670T>C (p.Gly4890=) c.14586T>C (p.Gly4862=) | |
19 | g.38584969T>G | CA507246318 | RYR1 | c.1609T>G c.3006T>G c.2978T>G n.66T>G c.14673T>G (p.Gly4891=) c.14658T>G (p.Gly4886=) c.14655T>G (p.Gly4885=) c.14640T>G (p.Gly4880=) c.14670T>G (p.Gly4890=) c.14586T>G (p.Gly4862=) | dbSNP |
19 | g.38584969T= | CA2335094937 | RYR1 | c.1609T= c.3006T= c.2978T= n.66T= c.14673T= (p.Gly4891=) c.14658T= (p.Gly4886=) c.14655T= (p.Gly4885=) c.14640T= (p.Gly4880=) c.14670T= (p.Gly4890=) c.14586T= (p.Gly4862=) | |
19 | g.38584970G>A | CA405690237 | RYR1 | c.1610G>A c.3007G>A c.2979G>A n.67G>A c.14674G>A (p.Val4892Ile) c.14659G>A (p.Val4887Ile) c.14656G>A (p.Val4886Ile) c.14641G>A (p.Val4881Ile) c.14671G>A (p.Val4891Ile) c.14587G>A (p.Val4863Ile) | |
19 | g.38584970G>C | CA405690239 | RYR1 | c.1610G>C c.3007G>C c.2979G>C n.67G>C c.14674G>C (p.Val4892Leu) c.14659G>C (p.Val4887Leu) c.14656G>C (p.Val4886Leu) c.14641G>C (p.Val4881Leu) c.14671G>C (p.Val4891Leu) c.14587G>C (p.Val4863Leu) | |
19 | g.38584970G>T | CA405690242 | RYR1 | c.1610G>T c.3007G>T c.2979G>T n.67G>T c.14674G>T (p.Val4892Phe) c.14659G>T (p.Val4887Phe) c.14656G>T (p.Val4886Phe) c.14641G>T (p.Val4881Phe) c.14671G>T (p.Val4891Phe) c.14587G>T (p.Val4863Phe) | |
19 | g.38584971T>A | CA405690245 | RYR1 | c.1611T>A c.3008T>A c.2980T>A n.68T>A c.14675T>A (p.Val4892Asp) c.14660T>A (p.Val4887Asp) c.14657T>A (p.Val4886Asp) c.14642T>A (p.Val4881Asp) c.14672T>A (p.Val4891Asp) c.14588T>A (p.Val4863Asp) | |
19 | g.38584971T>C | CA405690243 | RYR1 | c.1611T>C c.3008T>C c.2980T>C n.68T>C c.14675T>C (p.Val4892Ala) c.14660T>C (p.Val4887Ala) c.14657T>C (p.Val4886Ala) c.14642T>C (p.Val4881Ala) c.14672T>C (p.Val4891Ala) c.14588T>C (p.Val4863Ala) | |
19 | g.38584971T>G | CA405690244 | RYR1 | c.1611T>G c.3008T>G c.2980T>G n.68T>G c.14675T>G (p.Val4892Gly) c.14660T>G (p.Val4887Gly) c.14657T>G (p.Val4886Gly) c.14642T>G (p.Val4881Gly) c.14672T>G (p.Val4891Gly) c.14588T>G (p.Val4863Gly) | |
19 | g.38584972C>A | CA507246320 | RYR1 | c.1612C>A c.3009C>A c.2981C>A n.69C>A c.14676C>A (p.Val4892=) c.14661C>A (p.Val4887=) c.14658C>A (p.Val4886=) c.14643C>A (p.Val4881=) c.14673C>A (p.Val4891=) c.14589C>A (p.Val4863=) | |
19 | g.38584972C>G | CA507246321 | RYR1 | c.1612C>G c.3009C>G c.2981C>G n.69C>G c.14676C>G (p.Val4892=) c.14661C>G (p.Val4887=) c.14658C>G (p.Val4886=) c.14643C>G (p.Val4881=) c.14673C>G (p.Val4891=) c.14589C>G (p.Val4863=) | |
19 | g.38584972C>T | CA507246322 | RYR1 | c.1612C>T c.3009C>T c.2981C>T n.69C>T c.14676C>T (p.Val4892=) c.14661C>T (p.Val4887=) c.14658C>T (p.Val4886=) c.14643C>T (p.Val4881=) c.14673C>T (p.Val4891=) c.14589C>T (p.Val4863=) | |
19 | g.38584973C>A | CA507246323 | RYR1 | c.1613C>A c.3010C>A c.2982C>A n.70C>A c.14677C>A (p.Arg4893=) c.14662C>A (p.Arg4888=) c.14659C>A (p.Arg4887=) c.14644C>A (p.Arg4882=) c.14674C>A (p.Arg4892=) c.14590C>A (p.Arg4864=) | |
19 | g.38584973C= | CA2335094938 | RYR1 | c.1613C= c.3010C= c.2982C= n.70C= c.14677C= (p.Arg4893=) c.14662C= (p.Arg4888=) c.14659C= (p.Arg4887=) c.14644C= (p.Arg4882=) c.14674C= (p.Arg4892=) c.14590C= (p.Arg4864=) | |
19 | g.38584973C>G | CA308125459 | RYR1 | c.1613C>G c.3010C>G c.2982C>G n.70C>G c.14677C>G (p.Arg4893Gly) c.14662C>G (p.Arg4888Gly) c.14659C>G (p.Arg4887Gly) c.14644C>G (p.Arg4882Gly) c.14674C>G (p.Arg4892Gly) c.14590C>G (p.Arg4864Gly) | dbSNP |
19 | g.38584973C>T | CA024220 | RYR1 | c.1613C>T c.3010C>T c.2982C>T n.70C>T c.14677C>T (p.Arg4893Trp) c.14662C>T (p.Arg4888Trp) c.14659C>T (p.Arg4887Trp) c.14644C>T (p.Arg4882Trp) c.14674C>T (p.Arg4892Trp) c.14590C>T (p.Arg4864Trp) | ClinVar dbSNP gnomAD v4 |
19 | g.38584974G>A | CA024221 | RYR1 | c.1614G>A c.3011G>A c.2983G>A n.71G>A c.14678G>A (p.Arg4893Gln) c.14663G>A (p.Arg4888Gln) c.14660G>A (p.Arg4887Gln) c.14645G>A (p.Arg4882Gln) c.14675G>A (p.Arg4892Gln) c.14591G>A (p.Arg4864Gln) | ClinVar dbSNP |
19 | g.38584974G>C | CA024223 | RYR1 | c.1614G>C c.3011G>C c.2983G>C n.71G>C c.14678G>C (p.Arg4893Pro) c.14663G>C (p.Arg4888Pro) c.14660G>C (p.Arg4887Pro) c.14645G>C (p.Arg4882Pro) c.14675G>C (p.Arg4892Pro) c.14591G>C (p.Arg4864Pro) | ClinVar dbSNP |
19 | g.38584974G= | CA2335094939 | RYR1 | c.1614G= c.3011G= c.2983G= n.71G= c.14678G= (p.Arg4893=) c.14663G= (p.Arg4888=) c.14660G= (p.Arg4887=) c.14645G= (p.Arg4882=) c.14675G= (p.Arg4892=) c.14591G= (p.Arg4864=) | |
19 | g.38584974G>T | CA405690254 | RYR1 | c.1614G>T c.3011G>T c.2983G>T n.71G>T c.14678G>T (p.Arg4893Leu) c.14663G>T (p.Arg4888Leu) c.14660G>T (p.Arg4887Leu) c.14645G>T (p.Arg4882Leu) c.14675G>T (p.Arg4892Leu) c.14591G>T (p.Arg4864Leu) | ClinVar gnomAD v4 |
19 | g.38584975G>A | CA507246325 | RYR1 | c.1615G>A c.3012G>A c.2984G>A n.72G>A c.14679G>A (p.Arg4893=) c.14664G>A (p.Arg4888=) c.14661G>A (p.Arg4887=) c.14646G>A (p.Arg4882=) c.14676G>A (p.Arg4892=) c.14592G>A (p.Arg4864=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38584975G>C | CA507246326 | RYR1 | c.1615G>C c.3012G>C c.2984G>C n.72G>C c.14679G>C (p.Arg4893=) c.14664G>C (p.Arg4888=) c.14661G>C (p.Arg4887=) c.14646G>C (p.Arg4882=) c.14676G>C (p.Arg4892=) c.14592G>C (p.Arg4864=) | |
19 | g.38584975G= | CA2335094940 | RYR1 | c.1615G= c.3012G= c.2984G= n.72G= c.14679G= (p.Arg4893=) c.14664G= (p.Arg4888=) c.14661G= (p.Arg4887=) c.14646G= (p.Arg4882=) c.14676G= (p.Arg4892=) c.14592G= (p.Arg4864=) | |
19 | g.38584975G>T | CA507246328 | RYR1 | c.1615G>T c.3012G>T c.2984G>T n.72G>T c.14679G>T (p.Arg4893=) c.14664G>T (p.Arg4888=) c.14661G>T (p.Arg4887=) c.14646G>T (p.Arg4882=) c.14676G>T (p.Arg4892=) c.14592G>T (p.Arg4864=) | |
19 | g.38584976G>A | CA024225 | RYR1 | c.1616G>A c.3013G>A c.2985G>A n.73G>A c.14680G>A (p.Ala4894Thr) c.14665G>A (p.Ala4889Thr) c.14662G>A (p.Ala4888Thr) c.14647G>A (p.Ala4883Thr) c.14677G>A (p.Ala4893Thr) c.14593G>A (p.Ala4865Thr) | ClinVar dbSNP |
19 | g.38584976G>C | CA024227 | RYR1 | c.1616G>C c.3013G>C c.2985G>C n.73G>C c.14680G>C (p.Ala4894Pro) c.14665G>C (p.Ala4889Pro) c.14662G>C (p.Ala4888Pro) c.14647G>C (p.Ala4883Pro) c.14677G>C (p.Ala4893Pro) c.14593G>C (p.Ala4865Pro) | ClinVar dbSNP |
19 | g.38584976G= | CA2335094941 | RYR1 | c.1616G= c.3013G= c.2985G= n.73G= c.14680G= (p.Ala4894=) c.14665G= (p.Ala4889=) c.14662G= (p.Ala4888=) c.14647G= (p.Ala4883=) c.14677G= (p.Ala4893=) c.14593G= (p.Ala4865=) | |
19 | g.38584976G>T | CA405690256 | RYR1 | c.1616G>T c.3013G>T c.2985G>T n.73G>T c.14680G>T (p.Ala4894Ser) c.14665G>T (p.Ala4889Ser) c.14662G>T (p.Ala4888Ser) c.14647G>T (p.Ala4883Ser) c.14677G>T (p.Ala4893Ser) c.14593G>T (p.Ala4865Ser) | |
19 | g.38584977C>A | CA405690259 | RYR1 | c.1617C>A c.3014C>A c.2986C>A n.74C>A c.14681C>A (p.Ala4894Asp) c.14666C>A (p.Ala4889Asp) c.14663C>A (p.Ala4888Asp) c.14648C>A (p.Ala4883Asp) c.14678C>A (p.Ala4893Asp) c.14594C>A (p.Ala4865Asp) | ClinVar dbSNP |
19 | g.38584977C= | CA2335094942 | RYR1 | c.1617C= c.3014C= c.2986C= n.74C= c.14681C= (p.Ala4894=) c.14666C= (p.Ala4889=) c.14663C= (p.Ala4888=) c.14648C= (p.Ala4883=) c.14678C= (p.Ala4893=) c.14594C= (p.Ala4865=) | |
19 | g.38584977C>G | CA405690261 | RYR1 | c.1617C>G c.3014C>G c.2986C>G n.74C>G c.14681C>G (p.Ala4894Gly) c.14666C>G (p.Ala4889Gly) c.14663C>G (p.Ala4888Gly) c.14648C>G (p.Ala4883Gly) c.14678C>G (p.Ala4893Gly) c.14594C>G (p.Ala4865Gly) | |
19 | g.38584977C>T | CA024229 | RYR1 | c.1617C>T c.3014C>T c.2986C>T n.74C>T c.14681C>T (p.Ala4894Val) c.14666C>T (p.Ala4889Val) c.14663C>T (p.Ala4888Val) c.14648C>T (p.Ala4883Val) c.14678C>T (p.Ala4893Val) c.14594C>T (p.Ala4865Val) | ClinVar dbSNP |
19 | g.38584978T>A | CA507246330 | RYR1 | c.1618T>A c.3015T>A c.2987T>A n.75T>A c.14682T>A (p.Ala4894=) c.14667T>A (p.Ala4889=) c.14664T>A (p.Ala4888=) c.14649T>A (p.Ala4883=) c.14679T>A (p.Ala4893=) c.14595T>A (p.Ala4865=) | |
19 | g.38584978T>C | CA507246332 | RYR1 | c.1618T>C c.3015T>C c.2987T>C n.75T>C c.14682T>C (p.Ala4894=) c.14667T>C (p.Ala4889=) c.14664T>C (p.Ala4888=) c.14649T>C (p.Ala4883=) c.14679T>C (p.Ala4893=) c.14595T>C (p.Ala4865=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38584978T>G | CA507246333 | RYR1 | c.1618T>G c.3015T>G c.2987T>G n.75T>G c.14682T>G (p.Ala4894=) c.14667T>G (p.Ala4889=) c.14664T>G (p.Ala4888=) c.14649T>G (p.Ala4883=) c.14679T>G (p.Ala4893=) c.14595T>G (p.Ala4865=) | |
19 | g.38584978T= | CA2335094943 | RYR1 | c.1618T= c.3015T= c.2987T= n.75T= c.14682T= (p.Ala4894=) c.14667T= (p.Ala4889=) c.14664T= (p.Ala4888=) c.14649T= (p.Ala4883=) c.14679T= (p.Ala4893=) c.14595T= (p.Ala4865=) | |
19 | g.38584979G>A | CA405690265 | RYR1 | c.1619G>A c.3016G>A c.2988G>A n.76G>A c.14683G>A (p.Gly4895Ser) c.14668G>A (p.Gly4890Ser) c.14665G>A (p.Gly4889Ser) c.14650G>A (p.Gly4884Ser) c.14680G>A (p.Gly4894Ser) c.14596G>A (p.Gly4866Ser) | |
19 | g.38584979G>C | CA405690266 | RYR1 | c.1619G>C c.3016G>C c.2988G>C n.76G>C c.14683G>C (p.Gly4895Arg) c.14668G>C (p.Gly4890Arg) c.14665G>C (p.Gly4889Arg) c.14650G>C (p.Gly4884Arg) c.14680G>C (p.Gly4894Arg) c.14596G>C (p.Gly4866Arg) | |
19 | g.38584979G>T | CA405690267 | RYR1 | c.1619G>T c.3016G>T c.2988G>T n.76G>T c.14683G>T (p.Gly4895Cys) c.14668G>T (p.Gly4890Cys) c.14665G>T (p.Gly4889Cys) c.14650G>T (p.Gly4884Cys) c.14680G>T (p.Gly4894Cys) c.14596G>T (p.Gly4866Cys) | |
19 | g.38584980G>A | CA405690268 | RYR1 | c.1620G>A c.3017G>A c.2989G>A n.77G>A c.14684G>A (p.Gly4895Asp) c.14669G>A (p.Gly4890Asp) c.14666G>A (p.Gly4889Asp) c.14651G>A (p.Gly4884Asp) c.14681G>A (p.Gly4894Asp) c.14597G>A (p.Gly4866Asp) | COSMIC |
19 | g.38584980G>C | CA405690269 | RYR1 | c.1620G>C c.3017G>C c.2989G>C n.77G>C c.14684G>C (p.Gly4895Ala) c.14669G>C (p.Gly4890Ala) c.14666G>C (p.Gly4889Ala) c.14651G>C (p.Gly4884Ala) c.14681G>C (p.Gly4894Ala) c.14597G>C (p.Gly4866Ala) | |
19 | g.38584980G= | CA2335094944 | RYR1 | c.1620G= c.3017G= c.2989G= n.77G= c.14684G= (p.Gly4895=) c.14669G= (p.Gly4890=) c.14666G= (p.Gly4889=) c.14651G= (p.Gly4884=) c.14681G= (p.Gly4894=) c.14597G= (p.Gly4866=) | |
19 | g.38584980G>T | CA405690270 | RYR1 | c.1620G>T c.3017G>T c.2989G>T n.77G>T c.14684G>T (p.Gly4895Val) c.14669G>T (p.Gly4890Val) c.14666G>T (p.Gly4889Val) c.14651G>T (p.Gly4884Val) c.14681G>T (p.Gly4894Val) c.14597G>T (p.Gly4866Val) | ClinVar dbSNP |
19 | g.38584981C>A | CA507246335 | RYR1 | c.1621C>A c.3018C>A c.2990C>A n.78C>A c.14685C>A (p.Gly4895=) c.14670C>A (p.Gly4890=) c.14667C>A (p.Gly4889=) c.14652C>A (p.Gly4884=) c.14682C>A (p.Gly4894=) c.14598C>A (p.Gly4866=) | |
19 | g.38584981C= | CA2335094945 | RYR1 | c.1621C= c.3018C= c.2990C= n.78C= c.14685C= (p.Gly4895=) c.14670C= (p.Gly4890=) c.14667C= (p.Gly4889=) c.14652C= (p.Gly4884=) c.14682C= (p.Gly4894=) c.14598C= (p.Gly4866=) | |
19 | g.38584981C>G | CA507246336 | RYR1 | c.1621C>G c.3018C>G c.2990C>G n.78C>G c.14685C>G (p.Gly4895=) c.14670C>G (p.Gly4890=) c.14667C>G (p.Gly4889=) c.14652C>G (p.Gly4884=) c.14682C>G (p.Gly4894=) c.14598C>G (p.Gly4866=) | |
19 | g.38584981C>T | CA061513 | RYR1 | c.1621C>T c.3018C>T c.2990C>T n.78C>T c.14685C>T (p.Gly4895=) c.14670C>T (p.Gly4890=) c.14667C>T (p.Gly4889=) c.14652C>T (p.Gly4884=) c.14682C>T (p.Gly4894=) c.14598C>T (p.Gly4866=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38584982G>A | CA405690275 | RYR1 | c.1622G>A c.3019G>A c.2991G>A n.79G>A c.14686G>A (p.Gly4896Arg) c.14671G>A (p.Gly4891Arg) c.14668G>A (p.Gly4890Arg) c.14653G>A (p.Gly4885Arg) c.14683G>A (p.Gly4895Arg) c.14599G>A (p.Gly4867Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.38584982G>C | CA405690279 | RYR1 | c.1622G>C c.3019G>C c.2991G>C n.79G>C c.14686G>C (p.Gly4896Arg) c.14671G>C (p.Gly4891Arg) c.14668G>C (p.Gly4890Arg) c.14653G>C (p.Gly4885Arg) c.14683G>C (p.Gly4895Arg) c.14599G>C (p.Gly4867Arg) | |
19 | g.38584982G= | CA2335094946 | RYR1 | c.1622G= c.3019G= c.2991G= n.79G= c.14686G= (p.Gly4896=) c.14671G= (p.Gly4891=) c.14668G= (p.Gly4890=) c.14653G= (p.Gly4885=) c.14683G= (p.Gly4895=) c.14599G= (p.Gly4867=) | |
19 | g.38584982G>T | CA405690281 | RYR1 | c.1622G>T c.3019G>T c.2991G>T n.79G>T c.14686G>T (p.Gly4896Ter) c.14671G>T (p.Gly4891Ter) c.14668G>T (p.Gly4890Ter) c.14653G>T (p.Gly4885Ter) c.14683G>T (p.Gly4895Ter) c.14599G>T (p.Gly4867Ter) | |
19 | g.38584984_38584986del | CA2837107974 | RYR1 | c.1624_1626del c.3021_3023del c.2993_2995del n.81_83del c.14688_14690del (p.Gly4897del) c.14673_14675del (p.Gly4892del) c.14670_14672del (p.Gly4891del) c.14655_14657del (p.Gly4886del) c.14685_14687del (p.Gly4896del) c.14601_14603del (p.Gly4868del) | |
19 | g.38584983G>A | CA405690282 | RYR1 | c.1623G>A c.3020G>A c.2992G>A n.80G>A c.14687G>A (p.Gly4896Glu) c.14672G>A (p.Gly4891Glu) c.14669G>A (p.Gly4890Glu) c.14654G>A (p.Gly4885Glu) c.14684G>A (p.Gly4895Glu) c.14600G>A (p.Gly4867Glu) | ClinVar dbSNP |
19 | g.38584983G>C | CA405690286 | RYR1 | c.1623G>C c.3020G>C c.2992G>C n.80G>C c.14687G>C (p.Gly4896Ala) c.14672G>C (p.Gly4891Ala) c.14669G>C (p.Gly4890Ala) c.14654G>C (p.Gly4885Ala) c.14684G>C (p.Gly4895Ala) c.14600G>C (p.Gly4867Ala) | |
19 | g.38584983G= | CA2335094947 | RYR1 | c.1623G= c.3020G= c.2992G= n.80G= c.14687G= (p.Gly4896=) c.14672G= (p.Gly4891=) c.14669G= (p.Gly4890=) c.14654G= (p.Gly4885=) c.14684G= (p.Gly4895=) c.14600G= (p.Gly4867=) | |
19 | g.38584983G>T | CA405690284 | RYR1 | c.1623G>T c.3020G>T c.2992G>T n.80G>T c.14687G>T (p.Gly4896Val) c.14672G>T (p.Gly4891Val) c.14669G>T (p.Gly4890Val) c.14654G>T (p.Gly4885Val) c.14684G>T (p.Gly4895Val) c.14600G>T (p.Gly4867Val) | |
19 | g.38584984A>C | CA507246338 | RYR1 | c.1624A>C c.3021A>C c.2993A>C n.81A>C c.14688A>C (p.Gly4896=) c.14673A>C (p.Gly4891=) c.14670A>C (p.Gly4890=) c.14655A>C (p.Gly4885=) c.14685A>C (p.Gly4895=) c.14601A>C (p.Gly4867=) | |
19 | g.38584984A>G | CA507246339 | RYR1 | c.1624A>G c.3021A>G c.2993A>G n.81A>G c.14688A>G (p.Gly4896=) c.14673A>G (p.Gly4891=) c.14670A>G (p.Gly4890=) c.14655A>G (p.Gly4885=) c.14685A>G (p.Gly4895=) c.14601A>G (p.Gly4867=) | |
19 | g.38584984A>T | CA507246340 | RYR1 | c.1624A>T c.3021A>T c.2993A>T n.81A>T c.14688A>T (p.Gly4896=) c.14673A>T (p.Gly4891=) c.14670A>T (p.Gly4890=) c.14655A>T (p.Gly4885=) c.14685A>T (p.Gly4895=) c.14601A>T (p.Gly4867=) | |
19 | g.38584985G>A | CA405690288 | RYR1 | c.1625G>A c.3022G>A c.2994G>A n.82G>A c.14689G>A (p.Gly4897Ser) c.14674G>A (p.Gly4892Ser) c.14671G>A (p.Gly4891Ser) c.14656G>A (p.Gly4886Ser) c.14686G>A (p.Gly4896Ser) c.14602G>A (p.Gly4868Ser) | |
19 | g.38584985G>C | CA405690289 | RYR1 | c.1625G>C c.3022G>C c.2994G>C n.82G>C c.14689G>C (p.Gly4897Arg) c.14674G>C (p.Gly4892Arg) c.14671G>C (p.Gly4891Arg) c.14656G>C (p.Gly4886Arg) c.14686G>C (p.Gly4896Arg) c.14602G>C (p.Gly4868Arg) | |
19 | g.38584985G>T | CA405690290 | RYR1 | c.1625G>T c.3022G>T c.2994G>T n.82G>T c.14689G>T (p.Gly4897Cys) c.14674G>T (p.Gly4892Cys) c.14671G>T (p.Gly4891Cys) c.14656G>T (p.Gly4886Cys) c.14686G>T (p.Gly4896Cys) c.14602G>T (p.Gly4868Cys) | |
19 | g.38584986G>A | CA405690291 | RYR1 | c.1626G>A c.3023G>A c.2995G>A n.83G>A c.14690G>A (p.Gly4897Asp) c.14675G>A (p.Gly4892Asp) c.14672G>A (p.Gly4891Asp) c.14657G>A (p.Gly4886Asp) c.14687G>A (p.Gly4896Asp) c.14603G>A (p.Gly4868Asp) | ClinVar dbSNP |
19 | g.38584986G>C | CA405690292 | RYR1 | c.1626G>C c.3023G>C c.2995G>C n.83G>C c.14690G>C (p.Gly4897Ala) c.14675G>C (p.Gly4892Ala) c.14672G>C (p.Gly4891Ala) c.14657G>C (p.Gly4886Ala) c.14687G>C (p.Gly4896Ala) c.14603G>C (p.Gly4868Ala) | |
19 | g.38584986G= | CA2335094948 | RYR1 | c.1626G= c.3023G= c.2995G= n.83G= c.14690G= (p.Gly4897=) c.14675G= (p.Gly4892=) c.14672G= (p.Gly4891=) c.14657G= (p.Gly4886=) c.14687G= (p.Gly4896=) c.14603G= (p.Gly4868=) | |
19 | g.38584986G>T | CA024231 | RYR1 | c.1626G>T c.3023G>T c.2995G>T n.83G>T c.14690G>T (p.Gly4897Val) c.14675G>T (p.Gly4892Val) c.14672G>T (p.Gly4891Val) c.14657G>T (p.Gly4886Val) c.14687G>T (p.Gly4896Val) c.14603G>T (p.Gly4868Val) | ClinVar dbSNP |
19 | g.38584987C>A | CA507246343 | RYR1 | c.1627C>A c.3024C>A c.2996C>A n.84C>A c.14691C>A (p.Gly4897=) c.14676C>A (p.Gly4892=) c.14673C>A (p.Gly4891=) c.14658C>A (p.Gly4886=) c.14688C>A (p.Gly4896=) c.14604C>A (p.Gly4868=) | |
19 | g.38584987C>G | CA507246344 | RYR1 | c.1627C>G c.3024C>G c.2996C>G n.84C>G c.14691C>G (p.Gly4897=) c.14676C>G (p.Gly4892=) c.14673C>G (p.Gly4891=) c.14658C>G (p.Gly4886=) c.14688C>G (p.Gly4896=) c.14604C>G (p.Gly4868=) | |
19 | g.38584987C>T | CA507246342 | RYR1 | c.1627C>T c.3024C>T c.2996C>T n.84C>T c.14691C>T (p.Gly4897=) c.14676C>T (p.Gly4892=) c.14673C>T (p.Gly4891=) c.14658C>T (p.Gly4886=) c.14688C>T (p.Gly4896=) c.14604C>T (p.Gly4868=) | |
19 | g.38584988A>C | CA405690295 | RYR1 | c.1628A>C c.3025A>C c.2997A>C n.85A>C c.14692A>C (p.Ile4898Leu) c.14677A>C (p.Ile4893Leu) c.14674A>C (p.Ile4892Leu) c.14659A>C (p.Ile4887Leu) c.14689A>C (p.Ile4897Leu) c.14605A>C (p.Ile4869Leu) | |
19 | g.38584988A>G | CA405690297 | RYR1 | c.1628A>G c.3025A>G c.2997A>G n.85A>G c.14692A>G (p.Ile4898Val) c.14677A>G (p.Ile4893Val) c.14674A>G (p.Ile4892Val) c.14659A>G (p.Ile4887Val) c.14689A>G (p.Ile4897Val) c.14605A>G (p.Ile4869Val) | |
19 | g.38584988A>T | CA405690299 | RYR1 | c.1628A>T c.3025A>T c.2997A>T n.85A>T c.14692A>T (p.Ile4898Phe) c.14677A>T (p.Ile4893Phe) c.14674A>T (p.Ile4892Phe) c.14659A>T (p.Ile4887Phe) c.14689A>T (p.Ile4897Phe) c.14605A>T (p.Ile4869Phe) | |
19 | g.38584989T>A | CA405690302 | RYR1 | c.1629T>A c.3026T>A c.2998T>A n.86T>A c.14693T>A (p.Ile4898Asn) c.14678T>A (p.Ile4893Asn) c.14675T>A (p.Ile4892Asn) c.14660T>A (p.Ile4887Asn) c.14690T>A (p.Ile4897Asn) c.14606T>A (p.Ile4869Asn) | ClinVar dbSNP |
19 | g.38584989T>C | CA024233 | RYR1 | c.1629T>C c.3026T>C c.2998T>C n.86T>C c.14693T>C (p.Ile4898Thr) c.14678T>C (p.Ile4893Thr) c.14675T>C (p.Ile4892Thr) c.14660T>C (p.Ile4887Thr) c.14690T>C (p.Ile4897Thr) c.14606T>C (p.Ile4869Thr) | ClinVar dbSNP gnomAD v4 |
19 | g.38584989T>G | CA405690306 | RYR1 | c.1629T>G c.3026T>G c.2998T>G n.86T>G c.14693T>G (p.Ile4898Ser) c.14678T>G (p.Ile4893Ser) c.14675T>G (p.Ile4892Ser) c.14660T>G (p.Ile4887Ser) c.14690T>G (p.Ile4897Ser) c.14606T>G (p.Ile4869Ser) | ClinVar |
19 | g.38584989T= | CA2335094949 | RYR1 | c.1629T= c.3026T= c.2998T= n.86T= c.14693T= (p.Ile4898=) c.14678T= (p.Ile4893=) c.14675T= (p.Ile4892=) c.14660T= (p.Ile4887=) c.14690T= (p.Ile4897=) c.14606T= (p.Ile4869=) | |
19 | g.38584990dup | CA2584911050 | RYR1 | c.1630dup c.3027dup c.2999dup n.87dup c.14694dup (p.Gly4899TrpfsTer10) c.14679dup (p.Gly4894TrpfsTer10) c.14676dup (p.Gly4893TrpfsTer10) c.14661dup (p.Gly4888TrpfsTer10) c.14691dup (p.Gly4898TrpfsTer10) c.14607dup (p.Gly4870TrpfsTer10) | gnomAD v4 |
19 | g.38584990T>A | CA507246348 | RYR1 | c.1630T>A c.3027T>A c.2999T>A n.87T>A c.14694T>A (p.Ile4898=) c.14679T>A (p.Ile4893=) c.14676T>A (p.Ile4892=) c.14661T>A (p.Ile4887=) c.14691T>A (p.Ile4897=) c.14607T>A (p.Ile4869=) | |
19 | g.38584990T>C | CA507246347 | RYR1 | c.1630T>C c.3027T>C c.2999T>C n.87T>C c.14694T>C (p.Ile4898=) c.14679T>C (p.Ile4893=) c.14676T>C (p.Ile4892=) c.14661T>C (p.Ile4887=) c.14691T>C (p.Ile4897=) c.14607T>C (p.Ile4869=) | gnomAD v4 |
19 | g.38584990T>G | CA405690307 | RYR1 | c.1630T>G c.3027T>G c.2999T>G n.87T>G c.14694T>G (p.Ile4898Met) c.14679T>G (p.Ile4893Met) c.14676T>G (p.Ile4892Met) c.14661T>G (p.Ile4887Met) c.14691T>G (p.Ile4897Met) c.14607T>G (p.Ile4869Met) | |
19 | g.38584991G>A | CA024235 | RYR1 | c.1631G>A c.3028G>A c.3000G>A n.88G>A c.14695G>A (p.Gly4899Arg) c.14680G>A (p.Gly4894Arg) c.14677G>A (p.Gly4893Arg) c.14662G>A (p.Gly4888Arg) c.14692G>A (p.Gly4898Arg) c.14608G>A (p.Gly4870Arg) | ClinVar dbSNP |
19 | g.38584991G>C | CA405690308 | RYR1 | c.1631G>C c.3028G>C c.3000G>C n.88G>C c.14695G>C (p.Gly4899Arg) c.14680G>C (p.Gly4894Arg) c.14677G>C (p.Gly4893Arg) c.14662G>C (p.Gly4888Arg) c.14692G>C (p.Gly4898Arg) c.14608G>C (p.Gly4870Arg) | |
19 | g.38584991G= | CA2335094950 | RYR1 | c.1631G= c.3028G= c.3000G= n.88G= c.14695G= (p.Gly4899=) c.14680G= (p.Gly4894=) c.14677G= (p.Gly4893=) c.14662G= (p.Gly4888=) c.14692G= (p.Gly4898=) c.14608G= (p.Gly4870=) | |
19 | g.38584991G>T | CA405690309 | RYR1 | c.1631G>T c.3028G>T c.3000G>T n.88G>T c.14695G>T (p.Gly4899Trp) c.14680G>T (p.Gly4894Trp) c.14677G>T (p.Gly4893Trp) c.14662G>T (p.Gly4888Trp) c.14692G>T (p.Gly4898Trp) c.14608G>T (p.Gly4870Trp) | |
19 | g.38584992G>A | CA024237 | RYR1 | c.1632G>A c.3029G>A c.3001G>A n.89G>A c.14696G>A (p.Gly4899Glu) c.14681G>A (p.Gly4894Glu) c.14678G>A (p.Gly4893Glu) c.14663G>A (p.Gly4888Glu) c.14693G>A (p.Gly4898Glu) c.14609G>A (p.Gly4870Glu) | ClinVar dbSNP |
19 | g.38584992G>C | CA405690312 | RYR1 | c.1632G>C c.3029G>C c.3001G>C n.89G>C c.14696G>C (p.Gly4899Ala) c.14681G>C (p.Gly4894Ala) c.14678G>C (p.Gly4893Ala) c.14663G>C (p.Gly4888Ala) c.14693G>C (p.Gly4898Ala) c.14609G>C (p.Gly4870Ala) | |
19 | g.38584992G= | CA2335094951 | RYR1 | c.1632G= c.3029G= c.3001G= n.89G= c.14696G= (p.Gly4899=) c.14681G= (p.Gly4894=) c.14678G= (p.Gly4893=) c.14663G= (p.Gly4888=) c.14693G= (p.Gly4898=) c.14609G= (p.Gly4870=) | |
19 | g.38584992G>T | CA405690314 | RYR1 | c.1632G>T c.3029G>T c.3001G>T n.89G>T c.14696G>T (p.Gly4899Val) c.14681G>T (p.Gly4894Val) c.14678G>T (p.Gly4893Val) c.14663G>T (p.Gly4888Val) c.14693G>T (p.Gly4898Val) c.14609G>T (p.Gly4870Val) | |
19 | g.38584993G>A | CA061519 | RYR1 | c.1633G>A c.3030G>A c.3002G>A n.90G>A c.14697G>A (p.Gly4899=) c.14682G>A (p.Gly4894=) c.14679G>A (p.Gly4893=) c.14664G>A (p.Gly4888=) c.14694G>A (p.Gly4898=) c.14610G>A (p.Gly4870=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38584993G>C | CA507246351 | RYR1 | c.1633G>C c.3030G>C c.3002G>C n.90G>C c.14697G>C (p.Gly4899=) c.14682G>C (p.Gly4894=) c.14679G>C (p.Gly4893=) c.14664G>C (p.Gly4888=) c.14694G>C (p.Gly4898=) c.14610G>C (p.Gly4870=) | |
19 | g.38584993G= | CA2335094952 | RYR1 | c.1633G= c.3030G= c.3002G= n.90G= c.14697G= (p.Gly4899=) c.14682G= (p.Gly4894=) c.14679G= (p.Gly4893=) c.14664G= (p.Gly4888=) c.14694G= (p.Gly4898=) c.14610G= (p.Gly4870=) | |
19 | g.38584993G>T | CA061521 | RYR1 | c.1633G>T c.3030G>T c.3002G>T n.90G>T c.14697G>T (p.Gly4899=) c.14682G>T (p.Gly4894=) c.14679G>T (p.Gly4893=) c.14664G>T (p.Gly4888=) c.14694G>T (p.Gly4898=) c.14610G>T (p.Gly4870=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38584994G>A | CA405690320 | RYR1 | c.1634G>A c.3031G>A c.3003G>A n.91G>A c.14698G>A (p.Asp4900Asn) c.14683G>A (p.Asp4895Asn) c.14680G>A (p.Asp4894Asn) c.14665G>A (p.Asp4889Asn) c.14695G>A (p.Asp4899Asn) c.14611G>A (p.Asp4871Asn) | |
19 | g.38584994G>C | CA405690323 | RYR1 | c.1634G>C c.3031G>C c.3003G>C n.91G>C c.14698G>C (p.Asp4900His) c.14683G>C (p.Asp4895His) c.14680G>C (p.Asp4894His) c.14665G>C (p.Asp4889His) c.14695G>C (p.Asp4899His) c.14611G>C (p.Asp4871His) | |
19 | g.38584994G>T | CA405690327 | RYR1 | c.1634G>T c.3031G>T c.3003G>T n.91G>T c.14698G>T (p.Asp4900Tyr) c.14683G>T (p.Asp4895Tyr) c.14680G>T (p.Asp4894Tyr) c.14665G>T (p.Asp4889Tyr) c.14695G>T (p.Asp4899Tyr) c.14611G>T (p.Asp4871Tyr) | |
19 | g.38584995A>C | CA405690330 | RYR1 | c.1635A>C c.3032A>C c.3004A>C n.92A>C c.14699A>C (p.Asp4900Ala) c.14684A>C (p.Asp4895Ala) c.14681A>C (p.Asp4894Ala) c.14666A>C (p.Asp4889Ala) c.14696A>C (p.Asp4899Ala) c.14612A>C (p.Asp4871Ala) | |
19 | g.38584995A>G | CA405690333 | RYR1 | c.1635A>G c.3032A>G c.3004A>G n.92A>G c.14699A>G (p.Asp4900Gly) c.14684A>G (p.Asp4895Gly) c.14681A>G (p.Asp4894Gly) c.14666A>G (p.Asp4889Gly) c.14696A>G (p.Asp4899Gly) c.14612A>G (p.Asp4871Gly) | ClinVar dbSNP COSMIC |
19 | g.38584995A>T | CA405690342 | RYR1 | c.1635A>T c.3032A>T c.3004A>T n.92A>T c.14699A>T (p.Asp4900Val) c.14684A>T (p.Asp4895Val) c.14681A>T (p.Asp4894Val) c.14666A>T (p.Asp4889Val) c.14696A>T (p.Asp4899Val) c.14612A>T (p.Asp4871Val) | |
19 | g.38584996C>A | CA405690351 | RYR1 | c.1636C>A c.3033C>A c.3005C>A n.93C>A c.14700C>A (p.Asp4900Glu) c.14685C>A (p.Asp4895Glu) c.14682C>A (p.Asp4894Glu) c.14667C>A (p.Asp4889Glu) c.14697C>A (p.Asp4899Glu) c.14613C>A (p.Asp4871Glu) | |
19 | g.38584996C= | CA2335094953 | RYR1 | c.1636C= c.3033C= c.3005C= n.93C= c.14700C= (p.Asp4900=) c.14685C= (p.Asp4895=) c.14682C= (p.Asp4894=) c.14667C= (p.Asp4889=) c.14697C= (p.Asp4899=) c.14613C= (p.Asp4871=) | |
19 | g.38584996C>G | CA405690348 | RYR1 | c.1636C>G c.3033C>G c.3005C>G n.93C>G c.14700C>G (p.Asp4900Glu) c.14685C>G (p.Asp4895Glu) c.14682C>G (p.Asp4894Glu) c.14667C>G (p.Asp4889Glu) c.14697C>G (p.Asp4899Glu) c.14613C>G (p.Asp4871Glu) | |
19 | g.38584996C>T | CA081298 | RYR1 | c.1636C>T c.3033C>T c.3005C>T n.93C>T c.14700C>T (p.Asp4900=) c.14685C>T (p.Asp4895=) c.14682C>T (p.Asp4894=) c.14667C>T (p.Asp4889=) c.14697C>T (p.Asp4899=) c.14613C>T (p.Asp4871=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38584998_38585012dup | CA2580097258 | RYR1 | c.1638_1652dup c.3035_3049dup c.3007_3021dup n.95_109dup c.14702_14716dup (p.Pro4905_Ala4906insGluIleGluAspPro) c.14687_14701dup (p.Pro4900_Ala4901insGluIleGluAspPro) c.14684_14698dup (p.Pro4899_Ala4900insGluIleGluAspPro) c.14669_14683dup (p.Pro4894_Ala4895insGluIleGluAspPro) c.14699_14713dup (p.Pro4904_Ala4905insGluIleGluAspPro) c.14615_14629dup (p.Pro4876_Ala4877insGluIleGluAspPro) | ClinVar |
19 | g.38584997G>A | CA061530 | RYR1 | c.1637G>A c.3034G>A c.3006G>A n.94G>A c.14701G>A (p.Glu4901Lys) c.14686G>A (p.Glu4896Lys) c.14683G>A (p.Glu4895Lys) c.14668G>A (p.Glu4890Lys) c.14698G>A (p.Glu4900Lys) c.14614G>A (p.Glu4872Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38584997G>C | CA405690362 | RYR1 | c.1637G>C c.3034G>C c.3006G>C n.94G>C c.14701G>C (p.Glu4901Gln) c.14686G>C (p.Glu4896Gln) c.14683G>C (p.Glu4895Gln) c.14668G>C (p.Glu4890Gln) c.14698G>C (p.Glu4900Gln) c.14614G>C (p.Glu4872Gln) | |
19 | g.38584997G= | CA2335094954 | RYR1 | c.1637G= c.3034G= c.3006G= n.94G= c.14701G= (p.Glu4901=) c.14686G= (p.Glu4896=) c.14683G= (p.Glu4895=) c.14668G= (p.Glu4890=) c.14698G= (p.Glu4900=) c.14614G= (p.Glu4872=) | |
19 | g.38584997G>T | CA405690358 | RYR1 | c.1637G>T c.3034G>T c.3006G>T n.94G>T c.14701G>T (p.Glu4901Ter) c.14686G>T (p.Glu4896Ter) c.14683G>T (p.Glu4895Ter) c.14668G>T (p.Glu4890Ter) c.14698G>T (p.Glu4900Ter) c.14614G>T (p.Glu4872Ter) | |
19 | g.38584998A>C | CA405690368 | RYR1 | c.1638A>C c.3035A>C c.3007A>C n.95A>C c.14702A>C (p.Glu4901Ala) c.14687A>C (p.Glu4896Ala) c.14684A>C (p.Glu4895Ala) c.14669A>C (p.Glu4890Ala) c.14699A>C (p.Glu4900Ala) c.14615A>C (p.Glu4872Ala) | |
19 | g.38584998A>G | CA405690371 | RYR1 | c.1638A>G c.3035A>G c.3007A>G n.95A>G c.14702A>G (p.Glu4901Gly) c.14687A>G (p.Glu4896Gly) c.14684A>G (p.Glu4895Gly) c.14669A>G (p.Glu4890Gly) c.14699A>G (p.Glu4900Gly) c.14615A>G (p.Glu4872Gly) | |
19 | g.38584998A>T | CA405690372 | RYR1 | c.1638A>T c.3035A>T c.3007A>T n.95A>T c.14702A>T (p.Glu4901Val) c.14687A>T (p.Glu4896Val) c.14684A>T (p.Glu4895Val) c.14669A>T (p.Glu4890Val) c.14699A>T (p.Glu4900Val) c.14615A>T (p.Glu4872Val) | |
19 | g.38584999G>A | CA507246355 | RYR1 | c.1639G>A c.3036G>A c.3008G>A n.96G>A c.14703G>A (p.Glu4901=) c.14688G>A (p.Glu4896=) c.14685G>A (p.Glu4895=) c.14670G>A (p.Glu4890=) c.14700G>A (p.Glu4900=) c.14616G>A (p.Glu4872=) | |
19 | g.38584999G>C | CA405690377 | RYR1 | c.1639G>C c.3036G>C c.3008G>C n.96G>C c.14703G>C (p.Glu4901Asp) c.14688G>C (p.Glu4896Asp) c.14685G>C (p.Glu4895Asp) c.14670G>C (p.Glu4890Asp) c.14700G>C (p.Glu4900Asp) c.14616G>C (p.Glu4872Asp) | |
19 | g.38584999G>T | CA405690380 | RYR1 | c.1639G>T c.3036G>T c.3008G>T n.96G>T c.14703G>T (p.Glu4901Asp) c.14688G>T (p.Glu4896Asp) c.14685G>T (p.Glu4895Asp) c.14670G>T (p.Glu4890Asp) c.14700G>T (p.Glu4900Asp) c.14616G>T (p.Glu4872Asp) | |
19 | g.38585000A>C | CA405690383 | RYR1 | c.1640A>C c.3037A>C c.3009A>C n.97A>C c.14704A>C (p.Ile4902Leu) c.14689A>C (p.Ile4897Leu) c.14686A>C (p.Ile4896Leu) c.14671A>C (p.Ile4891Leu) c.14701A>C (p.Ile4901Leu) c.14617A>C (p.Ile4873Leu) | |
19 | g.38585000A>G | CA405690384 | RYR1 | c.1640A>G c.3037A>G c.3009A>G n.97A>G c.14704A>G (p.Ile4902Val) c.14689A>G (p.Ile4897Val) c.14686A>G (p.Ile4896Val) c.14671A>G (p.Ile4891Val) c.14701A>G (p.Ile4901Val) c.14617A>G (p.Ile4873Val) | |
19 | g.38585000A>T | CA405690385 | RYR1 | c.1640A>T c.3037A>T c.3009A>T n.97A>T c.14704A>T (p.Ile4902Phe) c.14689A>T (p.Ile4897Phe) c.14686A>T (p.Ile4896Phe) c.14671A>T (p.Ile4891Phe) c.14701A>T (p.Ile4901Phe) c.14617A>T (p.Ile4873Phe) | |
19 | g.38585001T>A | CA405690386 | RYR1 | c.1641T>A c.3038T>A c.3010T>A n.98T>A c.14705T>A (p.Ile4902Asn) c.14690T>A (p.Ile4897Asn) c.14687T>A (p.Ile4896Asn) c.14672T>A (p.Ile4891Asn) c.14702T>A (p.Ile4901Asn) c.14618T>A (p.Ile4873Asn) | |
19 | g.38585001T>C | CA405690387 | RYR1 | c.1641T>C c.3038T>C c.3010T>C n.98T>C c.14705T>C (p.Ile4902Thr) c.14690T>C (p.Ile4897Thr) c.14687T>C (p.Ile4896Thr) c.14672T>C (p.Ile4891Thr) c.14702T>C (p.Ile4901Thr) c.14618T>C (p.Ile4873Thr) | ClinVar dbSNP |
19 | g.38585001T>G | CA405690389 | RYR1 | c.1641T>G c.3038T>G c.3010T>G n.98T>G c.14705T>G (p.Ile4902Ser) c.14690T>G (p.Ile4897Ser) c.14687T>G (p.Ile4896Ser) c.14672T>G (p.Ile4891Ser) c.14702T>G (p.Ile4901Ser) c.14618T>G (p.Ile4873Ser) | |
19 | g.38585001T= | CA2335094955 | RYR1 | c.1641T= c.3038T= c.3010T= n.98T= c.14705T= (p.Ile4902=) c.14690T= (p.Ile4897=) c.14687T= (p.Ile4896=) c.14672T= (p.Ile4891=) c.14702T= (p.Ile4901=) c.14618T= (p.Ile4873=) | |
19 | g.38585002C>A | CA507246358 | RYR1 | c.1642C>A c.3039C>A c.3011C>A n.99C>A c.14706C>A (p.Ile4902=) c.14691C>A (p.Ile4897=) c.14688C>A (p.Ile4896=) c.14673C>A (p.Ile4891=) c.14703C>A (p.Ile4901=) c.14619C>A (p.Ile4873=) | |
19 | g.38585002C= | CA2335094956 | RYR1 | c.1642C= c.3039C= c.3011C= n.99C= c.14706C= (p.Ile4902=) c.14691C= (p.Ile4897=) c.14688C= (p.Ile4896=) c.14673C= (p.Ile4891=) c.14703C= (p.Ile4901=) c.14619C= (p.Ile4873=) | |
19 | g.38585002C>G | CA405690396 | RYR1 | c.1642C>G c.3039C>G c.3011C>G n.99C>G c.14706C>G (p.Ile4902Met) c.14691C>G (p.Ile4897Met) c.14688C>G (p.Ile4896Met) c.14673C>G (p.Ile4891Met) c.14703C>G (p.Ile4901Met) c.14619C>G (p.Ile4873Met) | |
19 | g.38585002C>T | CA10642775 | RYR1 | c.1642C>T c.3039C>T c.3011C>T n.99C>T c.14706C>T (p.Ile4902=) c.14691C>T (p.Ile4897=) c.14688C>T (p.Ile4896=) c.14673C>T (p.Ile4891=) c.14703C>T (p.Ile4901=) c.14619C>T (p.Ile4873=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.38585003G>A | CA061534 | RYR1 | c.1643G>A c.3040G>A c.3012G>A n.100G>A c.14707G>A (p.Glu4903Lys) c.14692G>A (p.Glu4898Lys) c.14689G>A (p.Glu4897Lys) c.14674G>A (p.Glu4892Lys) c.14704G>A (p.Glu4902Lys) c.14620G>A (p.Glu4874Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38585003G>C | CA405690409 | RYR1 | c.1643G>C c.3040G>C c.3012G>C n.100G>C c.14707G>C (p.Glu4903Gln) c.14692G>C (p.Glu4898Gln) c.14689G>C (p.Glu4897Gln) c.14674G>C (p.Glu4892Gln) c.14704G>C (p.Glu4902Gln) c.14620G>C (p.Glu4874Gln) | |
19 | g.38585003G= | CA2335094957 | RYR1 | c.1643G= c.3040G= c.3012G= n.100G= c.14707G= (p.Glu4903=) c.14692G= (p.Glu4898=) c.14689G= (p.Glu4897=) c.14674G= (p.Glu4892=) c.14704G= (p.Glu4902=) c.14620G= (p.Glu4874=) | |
19 | g.38585003G>T | CA405690406 | RYR1 | c.1643G>T c.3040G>T c.3012G>T n.100G>T c.14707G>T (p.Glu4903Ter) c.14692G>T (p.Glu4898Ter) c.14689G>T (p.Glu4897Ter) c.14674G>T (p.Glu4892Ter) c.14704G>T (p.Glu4902Ter) c.14620G>T (p.Glu4874Ter) | |
19 | g.38585004A>C | CA405690410 | RYR1 | c.1644A>C c.3041A>C c.3013A>C n.101A>C c.14708A>C (p.Glu4903Ala) c.14693A>C (p.Glu4898Ala) c.14690A>C (p.Glu4897Ala) c.14675A>C (p.Glu4892Ala) c.14705A>C (p.Glu4902Ala) c.14621A>C (p.Glu4874Ala) | |
19 | g.38585004A>G | CA405690412 | RYR1 | c.1644A>G c.3041A>G c.3013A>G n.101A>G c.14708A>G (p.Glu4903Gly) c.14693A>G (p.Glu4898Gly) c.14690A>G (p.Glu4897Gly) c.14675A>G (p.Glu4892Gly) c.14705A>G (p.Glu4902Gly) c.14621A>G (p.Glu4874Gly) | |
19 | g.38585004A>T | CA405690414 | RYR1 | c.1644A>T c.3041A>T c.3013A>T n.101A>T c.14708A>T (p.Glu4903Val) c.14693A>T (p.Glu4898Val) c.14690A>T (p.Glu4897Val) c.14675A>T (p.Glu4892Val) c.14705A>T (p.Glu4902Val) c.14621A>T (p.Glu4874Val) | |
19 | g.38585005G>A | CA507246362 | RYR1 | c.1645G>A c.3042G>A c.3014G>A n.102G>A c.14709G>A (p.Glu4903=) c.14694G>A (p.Glu4898=) c.14691G>A (p.Glu4897=) c.14676G>A (p.Glu4892=) c.14706G>A (p.Glu4902=) c.14622G>A (p.Glu4874=) | |
19 | g.38585005G>C | CA061537 | RYR1 | c.1645G>C c.3042G>C c.3014G>C n.102G>C c.14709G>C (p.Glu4903Asp) c.14694G>C (p.Glu4898Asp) c.14691G>C (p.Glu4897Asp) c.14676G>C (p.Glu4892Asp) c.14706G>C (p.Glu4902Asp) c.14622G>C (p.Glu4874Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38585005G= | CA2335094958 | RYR1 | c.1645G= c.3042G= c.3014G= n.102G= c.14709G= (p.Glu4903=) c.14694G= (p.Glu4898=) c.14691G= (p.Glu4897=) c.14676G= (p.Glu4892=) c.14706G= (p.Glu4902=) c.14622G= (p.Glu4874=) | |
19 | g.38585005G>T | CA405690422 | RYR1 | c.1645G>T c.3042G>T c.3014G>T n.102G>T c.14709G>T (p.Glu4903Asp) c.14694G>T (p.Glu4898Asp) c.14691G>T (p.Glu4897Asp) c.14676G>T (p.Glu4892Asp) c.14706G>T (p.Glu4902Asp) c.14622G>T (p.Glu4874Asp) | |
19 | g.38585006G>A | CA081301 | RYR1 | c.1646G>A c.3043G>A c.3015G>A n.103G>A c.14710G>A (p.Asp4904Asn) c.14695G>A (p.Asp4899Asn) c.14692G>A (p.Asp4898Asn) c.14677G>A (p.Asp4893Asn) c.14707G>A (p.Asp4903Asn) c.14623G>A (p.Asp4875Asn) | |
19 | g.38585006G>C | CA405690426 | RYR1 | c.1646G>C c.3043G>C c.3015G>C n.103G>C c.14710G>C (p.Asp4904His) c.14695G>C (p.Asp4899His) c.14692G>C (p.Asp4898His) c.14677G>C (p.Asp4893His) c.14707G>C (p.Asp4903His) c.14623G>C (p.Asp4875His) | |
19 | g.38585006G>T | CA405690430 | RYR1 | c.1646G>T c.3043G>T c.3015G>T n.103G>T c.14710G>T (p.Asp4904Tyr) c.14695G>T (p.Asp4899Tyr) c.14692G>T (p.Asp4898Tyr) c.14677G>T (p.Asp4893Tyr) c.14707G>T (p.Asp4903Tyr) c.14623G>T (p.Asp4875Tyr) | |
19 | g.38585007A= | CA2335094959 | RYR1 | c.1647A= c.3044A= c.3016A= n.104A= c.14711A= (p.Asp4904=) c.14696A= (p.Asp4899=) c.14693A= (p.Asp4898=) c.14678A= (p.Asp4893=) c.14708A= (p.Asp4903=) c.14624A= (p.Asp4875=) | |
19 | g.38585007A>C | CA405690447 | RYR1 | c.1647A>C c.3044A>C c.3016A>C n.104A>C c.14711A>C (p.Asp4904Ala) c.14696A>C (p.Asp4899Ala) c.14693A>C (p.Asp4898Ala) c.14678A>C (p.Asp4893Ala) c.14708A>C (p.Asp4903Ala) c.14624A>C (p.Asp4875Ala) | dbSNP |
19 | g.38585007A>G | CA405690448 | RYR1 | c.1647A>G c.3044A>G c.3016A>G n.104A>G c.14711A>G (p.Asp4904Gly) c.14696A>G (p.Asp4899Gly) c.14693A>G (p.Asp4898Gly) c.14678A>G (p.Asp4893Gly) c.14708A>G (p.Asp4903Gly) c.14624A>G (p.Asp4875Gly) | |
19 | g.38585007A>T | CA405690451 | RYR1 | c.1647A>T c.3044A>T c.3016A>T n.104A>T c.14711A>T (p.Asp4904Val) c.14696A>T (p.Asp4899Val) c.14693A>T (p.Asp4898Val) c.14678A>T (p.Asp4893Val) c.14708A>T (p.Asp4903Val) c.14624A>T (p.Asp4875Val) | |
19 | g.38585008C>A | CA405690454 | RYR1 | c.1648C>A c.3045C>A c.3017C>A n.105C>A c.14712C>A (p.Asp4904Glu) c.14697C>A (p.Asp4899Glu) c.14694C>A (p.Asp4898Glu) c.14679C>A (p.Asp4893Glu) c.14709C>A (p.Asp4903Glu) c.14625C>A (p.Asp4875Glu) | |
19 | g.38585008C>G | CA405690464 | RYR1 | c.1648C>G c.3045C>G c.3017C>G n.105C>G c.14712C>G (p.Asp4904Glu) c.14697C>G (p.Asp4899Glu) c.14694C>G (p.Asp4898Glu) c.14679C>G (p.Asp4893Glu) c.14709C>G (p.Asp4903Glu) c.14625C>G (p.Asp4875Glu) | |
19 | g.38585008C>T | CA507246366 | RYR1 | c.1648C>T c.3045C>T c.3017C>T n.105C>T c.14712C>T (p.Asp4904=) c.14697C>T (p.Asp4899=) c.14694C>T (p.Asp4898=) c.14679C>T (p.Asp4893=) c.14709C>T (p.Asp4903=) c.14625C>T (p.Asp4875=) | ClinVar |
19 | g.38585009C>A | CA16043558 | RYR1 | c.1649C>A c.3046C>A c.3018C>A n.106C>A c.14713C>A (p.Pro4905Thr) c.14698C>A (p.Pro4900Thr) c.14695C>A (p.Pro4899Thr) c.14680C>A (p.Pro4894Thr) c.14710C>A (p.Pro4904Thr) c.14626C>A (p.Pro4876Thr) | ClinVar dbSNP |
19 | g.38585009C= | CA2335094960 | RYR1 | c.1649C= c.3046C= c.3018C= n.106C= c.14713C= (p.Pro4905=) c.14698C= (p.Pro4900=) c.14695C= (p.Pro4899=) c.14680C= (p.Pro4894=) c.14710C= (p.Pro4904=) c.14626C= (p.Pro4876=) | |
19 | g.38585009C>G | CA405690474 | RYR1 | c.1649C>G c.3046C>G c.3018C>G n.106C>G c.14713C>G (p.Pro4905Ala) c.14698C>G (p.Pro4900Ala) c.14695C>G (p.Pro4899Ala) c.14680C>G (p.Pro4894Ala) c.14710C>G (p.Pro4904Ala) c.14626C>G (p.Pro4876Ala) | |
19 | g.38585009C>T | CA405690476 | RYR1 | c.1649C>T c.3046C>T c.3018C>T n.106C>T c.14713C>T (p.Pro4905Ser) c.14698C>T (p.Pro4900Ser) c.14695C>T (p.Pro4899Ser) c.14680C>T (p.Pro4894Ser) c.14710C>T (p.Pro4904Ser) c.14626C>T (p.Pro4876Ser) | ClinVar |
19 | g.38585010C>A | CA405690479 | RYR1 | c.1650C>A c.3047C>A c.3019C>A n.107C>A c.14714C>A (p.Pro4905His) c.14699C>A (p.Pro4900His) c.14696C>A (p.Pro4899His) c.14681C>A (p.Pro4894His) c.14711C>A (p.Pro4904His) c.14627C>A (p.Pro4876His) | gnomAD v4 |
19 | g.38585010C>G | CA405690481 | RYR1 | c.1650C>G c.3047C>G c.3019C>G n.107C>G c.14714C>G (p.Pro4905Arg) c.14699C>G (p.Pro4900Arg) c.14696C>G (p.Pro4899Arg) c.14681C>G (p.Pro4894Arg) c.14711C>G (p.Pro4904Arg) c.14627C>G (p.Pro4876Arg) | |
19 | g.38585010C>T | CA405690486 | RYR1 | c.1650C>T c.3047C>T c.3019C>T n.107C>T c.14714C>T (p.Pro4905Leu) c.14699C>T (p.Pro4900Leu) c.14696C>T (p.Pro4899Leu) c.14681C>T (p.Pro4894Leu) c.14711C>T (p.Pro4904Leu) c.14627C>T (p.Pro4876Leu) | |
19 | g.38585011C>A | CA507246368 | RYR1 | c.1651C>A c.3048C>A c.3020C>A n.108C>A c.14715C>A (p.Pro4905=) c.14700C>A (p.Pro4900=) c.14697C>A (p.Pro4899=) c.14682C>A (p.Pro4894=) c.14712C>A (p.Pro4904=) c.14628C>A (p.Pro4876=) | |
19 | g.38585011C= | CA2335094961 | RYR1 | c.1651C= c.3048C= c.3020C= n.108C= c.14715C= (p.Pro4905=) c.14700C= (p.Pro4900=) c.14697C= (p.Pro4899=) c.14682C= (p.Pro4894=) c.14712C= (p.Pro4904=) c.14628C= (p.Pro4876=) | |
19 | g.38585011C>G | CA507246369 | RYR1 | c.1651C>G c.3048C>G c.3020C>G n.108C>G c.14715C>G (p.Pro4905=) c.14700C>G (p.Pro4900=) c.14697C>G (p.Pro4899=) c.14682C>G (p.Pro4894=) c.14712C>G (p.Pro4904=) c.14628C>G (p.Pro4876=) | |
19 | g.38585011C>T | CA507246370 | RYR1 | c.1651C>T c.3048C>T c.3020C>T n.108C>T c.14715C>T (p.Pro4905=) c.14700C>T (p.Pro4900=) c.14697C>T (p.Pro4899=) c.14682C>T (p.Pro4894=) c.14712C>T (p.Pro4904=) c.14628C>T (p.Pro4876=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38585012G>A | CA405690492 | RYR1 | c.1652G>A c.3049G>A c.3021G>A n.109G>A c.14716G>A (p.Ala4906Thr) c.14701G>A (p.Ala4901Thr) c.14698G>A (p.Ala4900Thr) c.14683G>A (p.Ala4895Thr) c.14713G>A (p.Ala4905Thr) c.14629G>A (p.Ala4877Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38585012G>C | CA405690495 | RYR1 | c.1652G>C c.3049G>C c.3021G>C n.109G>C c.14716G>C (p.Ala4906Pro) c.14701G>C (p.Ala4901Pro) c.14698G>C (p.Ala4900Pro) c.14683G>C (p.Ala4895Pro) c.14713G>C (p.Ala4905Pro) c.14629G>C (p.Ala4877Pro) | |
19 | g.38585012G= | CA2335094962 | RYR1 | c.1652G= c.3049G= c.3021G= n.109G= c.14716G= (p.Ala4906=) c.14701G= (p.Ala4901=) c.14698G= (p.Ala4900=) c.14683G= (p.Ala4895=) c.14713G= (p.Ala4905=) c.14629G= (p.Ala4877=) | |
19 | g.38585012G>T | CA405690499 | RYR1 | c.1652G>T c.3049G>T c.3021G>T n.109G>T c.14716G>T (p.Ala4906Ser) c.14701G>T (p.Ala4901Ser) c.14698G>T (p.Ala4900Ser) c.14683G>T (p.Ala4895Ser) c.14713G>T (p.Ala4905Ser) c.14629G>T (p.Ala4877Ser) | dbSNP |
19 | g.38585012dup | CA2838346201 | RYR1 | c.1652dup c.3049dup c.3021dup n.109dup c.14716dup (p.Ala4906GlyfsTer3) c.14701dup (p.Ala4901GlyfsTer3) c.14698dup (p.Ala4900GlyfsTer3) c.14683dup (p.Ala4895GlyfsTer3) c.14713dup (p.Ala4905GlyfsTer3) c.14629dup (p.Ala4877GlyfsTer3) | |
19 | g.38585013C>A | CA405690510 | RYR1 | c.1653C>A c.3050C>A c.3022C>A n.110C>A c.14717C>A (p.Ala4906Glu) c.14702C>A (p.Ala4901Glu) c.14699C>A (p.Ala4900Glu) c.14684C>A (p.Ala4895Glu) c.14714C>A (p.Ala4905Glu) c.14630C>A (p.Ala4877Glu) | |
19 | g.38585013C= | CA2335094963 | RYR1 | c.1653C= c.3050C= c.3022C= n.110C= c.14717C= (p.Ala4906=) c.14702C= (p.Ala4901=) c.14699C= (p.Ala4900=) c.14684C= (p.Ala4895=) c.14714C= (p.Ala4905=) c.14630C= (p.Ala4877=) | |
19 | g.38585013C>G | CA024239 | RYR1 | c.1653C>G c.3050C>G c.3022C>G n.110C>G c.14717C>G (p.Ala4906Gly) c.14702C>G (p.Ala4901Gly) c.14699C>G (p.Ala4900Gly) c.14684C>G (p.Ala4895Gly) c.14714C>G (p.Ala4905Gly) c.14630C>G (p.Ala4877Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38585013C>T | CA024241 | RYR1 | c.1653C>T c.3050C>T c.3022C>T n.110C>T c.14717C>T (p.Ala4906Val) c.14702C>T (p.Ala4901Val) c.14699C>T (p.Ala4900Val) c.14684C>T (p.Ala4895Val) c.14714C>T (p.Ala4905Val) c.14630C>T (p.Ala4877Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38585014G>A | CA061546 | RYR1 | c.1654G>A c.3051G>A c.3023G>A n.111G>A c.14718G>A (p.Ala4906=) c.14703G>A (p.Ala4901=) c.14700G>A (p.Ala4900=) c.14685G>A (p.Ala4895=) c.14715G>A (p.Ala4905=) c.14631G>A (p.Ala4877=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38585014G>C | CA507246374 | RYR1 | c.1654G>C c.3051G>C c.3023G>C n.111G>C c.14718G>C (p.Ala4906=) c.14703G>C (p.Ala4901=) c.14700G>C (p.Ala4900=) c.14685G>C (p.Ala4895=) c.14715G>C (p.Ala4905=) c.14631G>C (p.Ala4877=) | |
19 | g.38585014G= | CA2335094964 | RYR1 | c.1654G= c.3051G= c.3023G= n.111G= c.14718G= (p.Ala4906=) c.14703G= (p.Ala4901=) c.14700G= (p.Ala4900=) c.14685G= (p.Ala4895=) c.14715G= (p.Ala4905=) c.14631G= (p.Ala4877=) | |
19 | g.38585014G>T | CA507246375 | RYR1 | c.1654G>T c.3051G>T c.3023G>T n.111G>T c.14718G>T (p.Ala4906=) c.14703G>T (p.Ala4901=) c.14700G>T (p.Ala4900=) c.14685G>T (p.Ala4895=) c.14715G>T (p.Ala4905=) c.14631G>T (p.Ala4877=) | |
19 | g.38585015G>A | CA405690545 | RYR1 | c.1655G>A c.3052G>A c.3024G>A n.112G>A c.14719G>A (p.Gly4907Ser) c.14704G>A (p.Gly4902Ser) c.14701G>A (p.Gly4901Ser) c.14686G>A (p.Gly4896Ser) c.14716G>A (p.Gly4906Ser) c.14632G>A (p.Gly4878Ser) | |
19 | g.38585015G>C | CA405690535 | RYR1 | c.1655G>C c.3052G>C c.3024G>C n.112G>C c.14719G>C (p.Gly4907Arg) c.14704G>C (p.Gly4902Arg) c.14701G>C (p.Gly4901Arg) c.14686G>C (p.Gly4896Arg) c.14716G>C (p.Gly4906Arg) c.14632G>C (p.Gly4878Arg) | |
19 | g.38585015G>T | CA405690541 | RYR1 | c.1655G>T c.3052G>T c.3024G>T n.112G>T c.14719G>T (p.Gly4907Cys) c.14704G>T (p.Gly4902Cys) c.14701G>T (p.Gly4901Cys) c.14686G>T (p.Gly4896Cys) c.14716G>T (p.Gly4906Cys) c.14632G>T (p.Gly4878Cys) | |
19 | g.38585016G>A | CA405690552 | RYR1 | c.1656G>A c.3053G>A c.3025G>A n.113G>A c.14720G>A (p.Gly4907Asp) c.14705G>A (p.Gly4902Asp) c.14702G>A (p.Gly4901Asp) c.14687G>A (p.Gly4896Asp) c.14717G>A (p.Gly4906Asp) c.14633G>A (p.Gly4878Asp) | |
19 | g.38585016G>C | CA405690554 | RYR1 | c.1656G>C c.3053G>C c.3025G>C n.113G>C c.14720G>C (p.Gly4907Ala) c.14705G>C (p.Gly4902Ala) c.14702G>C (p.Gly4901Ala) c.14687G>C (p.Gly4896Ala) c.14717G>C (p.Gly4906Ala) c.14633G>C (p.Gly4878Ala) | |
19 | g.38585016G>T | CA405690555 | RYR1 | c.1656G>T c.3053G>T c.3025G>T n.113G>T c.14720G>T (p.Gly4907Val) c.14705G>T (p.Gly4902Val) c.14702G>T (p.Gly4901Val) c.14687G>T (p.Gly4896Val) c.14717G>T (p.Gly4906Val) c.14633G>T (p.Gly4878Val) | |
19 | g.38585017T>A | CA507246377 | RYR1 | c.1657T>A c.3054T>A c.3026T>A n.114T>A c.14721T>A (p.Gly4907=) c.14706T>A (p.Gly4902=) c.14703T>A (p.Gly4901=) c.14688T>A (p.Gly4896=) c.14718T>A (p.Gly4906=) c.14634T>A (p.Gly4878=) | |
19 | g.38585017T>C | CA507246379 | RYR1 | c.1657T>C c.3054T>C c.3026T>C n.114T>C c.14721T>C (p.Gly4907=) c.14706T>C (p.Gly4902=) c.14703T>C (p.Gly4901=) c.14688T>C (p.Gly4896=) c.14718T>C (p.Gly4906=) c.14634T>C (p.Gly4878=) | |
19 | g.38585017T>G | CA507246380 | RYR1 | c.1657T>G c.3054T>G c.3026T>G n.114T>G c.14721T>G (p.Gly4907=) c.14706T>G (p.Gly4902=) c.14703T>G (p.Gly4901=) c.14688T>G (p.Gly4896=) c.14718T>G (p.Gly4906=) c.14634T>G (p.Gly4878=) | |
19 | g.38585018G>A | CA405690556 | RYR1 | c.1658G>A c.3055G>A c.3027G>A n.115G>A c.14722G>A (p.Asp4908Asn) c.14707G>A (p.Asp4903Asn) c.14704G>A (p.Asp4902Asn) c.14689G>A (p.Asp4897Asn) c.14719G>A (p.Asp4907Asn) c.14635G>A (p.Asp4879Asn) | |
19 | g.38585018G>C | CA405690557 | RYR1 | c.1658G>C c.3055G>C c.3027G>C n.115G>C c.14722G>C (p.Asp4908His) c.14707G>C (p.Asp4903His) c.14704G>C (p.Asp4902His) c.14689G>C (p.Asp4897His) c.14719G>C (p.Asp4907His) c.14635G>C (p.Asp4879His) | |
19 | g.38585018G>T | CA405690558 | RYR1 | c.1658G>T c.3055G>T c.3027G>T n.115G>T c.14722G>T (p.Asp4908Tyr) c.14707G>T (p.Asp4903Tyr) c.14704G>T (p.Asp4902Tyr) c.14689G>T (p.Asp4897Tyr) c.14719G>T (p.Asp4907Tyr) c.14635G>T (p.Asp4879Tyr) | |
19 | g.38585019A= | CA2335094965 | RYR1 | c.1659A= c.3056A= c.3028A= n.116A= c.14723A= (p.Asp4908=) c.14708A= (p.Asp4903=) c.14705A= (p.Asp4902=) c.14690A= (p.Asp4897=) c.14720A= (p.Asp4907=) c.14636A= (p.Asp4879=) | |
19 | g.38585019A>C | CA405690559 | RYR1 | c.1659A>C c.3056A>C c.3028A>C n.116A>C c.14723A>C (p.Asp4908Ala) c.14708A>C (p.Asp4903Ala) c.14705A>C (p.Asp4902Ala) c.14690A>C (p.Asp4897Ala) c.14720A>C (p.Asp4907Ala) c.14636A>C (p.Asp4879Ala) | |
19 | g.38585019A>G | CA405690561 | RYR1 | c.1659A>G c.3056A>G c.3028A>G n.116A>G c.14723A>G (p.Asp4908Gly) c.14708A>G (p.Asp4903Gly) c.14705A>G (p.Asp4902Gly) c.14690A>G (p.Asp4897Gly) c.14720A>G (p.Asp4907Gly) c.14636A>G (p.Asp4879Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38585019A>T | CA405690565 | RYR1 | c.1659A>T c.3056A>T c.3028A>T n.116A>T c.14723A>T (p.Asp4908Val) c.14708A>T (p.Asp4903Val) c.14705A>T (p.Asp4902Val) c.14690A>T (p.Asp4897Val) c.14720A>T (p.Asp4907Val) c.14636A>T (p.Asp4879Val) | |
19 | g.38585020C>A | CA405690567 | RYR1 | c.1660C>A c.3057C>A c.3029C>A n.117C>A c.14724C>A (p.Asp4908Glu) c.14709C>A (p.Asp4903Glu) c.14706C>A (p.Asp4902Glu) c.14691C>A (p.Asp4897Glu) c.14721C>A (p.Asp4907Glu) c.14637C>A (p.Asp4879Glu) | |
19 | g.38585020C= | CA2335094966 | RYR1 | c.1660C= c.3057C= c.3029C= n.117C= c.14724C= (p.Asp4908=) c.14709C= (p.Asp4903=) c.14706C= (p.Asp4902=) c.14691C= (p.Asp4897=) c.14721C= (p.Asp4907=) c.14637C= (p.Asp4879=) | |
19 | g.38585020C>G | CA405690568 | RYR1 | c.1660C>G c.3057C>G c.3029C>G n.117C>G c.14724C>G (p.Asp4908Glu) c.14709C>G (p.Asp4903Glu) c.14706C>G (p.Asp4902Glu) c.14691C>G (p.Asp4897Glu) c.14721C>G (p.Asp4907Glu) c.14637C>G (p.Asp4879Glu) | gnomAD v4 |
19 | g.38585020C>T | CA061552 | RYR1 | c.1660C>T c.3057C>T c.3029C>T n.117C>T c.14724C>T (p.Asp4908=) c.14709C>T (p.Asp4903=) c.14706C>T (p.Asp4902=) c.14691C>T (p.Asp4897=) c.14721C>T (p.Asp4907=) c.14637C>T (p.Asp4879=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38585021G>A | CA061556 | RYR1 | c.1661G>A c.3058G>A c.3030G>A n.118G>A c.14725G>A (p.Glu4909Lys) c.14710G>A (p.Glu4904Lys) c.14707G>A (p.Glu4903Lys) c.14692G>A (p.Glu4898Lys) c.14722G>A (p.Glu4908Lys) c.14638G>A (p.Glu4880Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38585021G>C | CA405690576 | RYR1 | c.1661G>C c.3058G>C c.3030G>C n.118G>C c.14725G>C (p.Glu4909Gln) c.14710G>C (p.Glu4904Gln) c.14707G>C (p.Glu4903Gln) c.14692G>C (p.Glu4898Gln) c.14722G>C (p.Glu4908Gln) c.14638G>C (p.Glu4880Gln) | |
19 | g.38585021G= | CA2335094967 | RYR1 | c.1661G= c.3058G= c.3030G= n.118G= c.14725G= (p.Glu4909=) c.14710G= (p.Glu4904=) c.14707G= (p.Glu4903=) c.14692G= (p.Glu4898=) c.14722G= (p.Glu4908=) c.14638G= (p.Glu4880=) | |
19 | g.38585021G>T | CA405690571 | RYR1 | c.1661G>T c.3058G>T c.3030G>T n.118G>T c.14725G>T (p.Glu4909Ter) c.14710G>T (p.Glu4904Ter) c.14707G>T (p.Glu4903Ter) c.14692G>T (p.Glu4898Ter) c.14722G>T (p.Glu4908Ter) c.14638G>T (p.Glu4880Ter) | |
19 | g.38585022A>C | CA405690586 | RYR1 | c.1662A>C c.3059A>C c.3031A>C n.119A>C c.14726A>C (p.Glu4909Ala) c.14711A>C (p.Glu4904Ala) c.14708A>C (p.Glu4903Ala) c.14693A>C (p.Glu4898Ala) c.14723A>C (p.Glu4908Ala) c.14639A>C (p.Glu4880Ala) | |
19 | g.38585022A>G | CA405690590 | RYR1 | c.1662A>G c.3059A>G c.3031A>G n.119A>G c.14726A>G (p.Glu4909Gly) c.14711A>G (p.Glu4904Gly) c.14708A>G (p.Glu4903Gly) c.14693A>G (p.Glu4898Gly) c.14723A>G (p.Glu4908Gly) c.14639A>G (p.Glu4880Gly) | |
19 | g.38585022A>T | CA405690587 | RYR1 | c.1662A>T c.3059A>T c.3031A>T n.119A>T c.14726A>T (p.Glu4909Val) c.14711A>T (p.Glu4904Val) c.14708A>T (p.Glu4903Val) c.14693A>T (p.Glu4898Val) c.14723A>T (p.Glu4908Val) c.14639A>T (p.Glu4880Val) | |
19 | g.38585023A>C | CA405690594 | RYR1 | c.1663A>C c.3060A>C c.3032A>C n.120A>C c.14727A>C (p.Glu4909Asp) c.14712A>C (p.Glu4904Asp) c.14709A>C (p.Glu4903Asp) c.14694A>C (p.Glu4898Asp) c.14724A>C (p.Glu4908Asp) c.14640A>C (p.Glu4880Asp) | |
19 | g.38585023A>G | CA507246382 | RYR1 | c.1663A>G c.3060A>G c.3032A>G n.120A>G c.14727A>G (p.Glu4909=) c.14712A>G (p.Glu4904=) c.14709A>G (p.Glu4903=) c.14694A>G (p.Glu4898=) c.14724A>G (p.Glu4908=) c.14640A>G (p.Glu4880=) | gnomAD v4 |
19 | g.38585023A>T | CA405690598 | RYR1 | c.1663A>T c.3060A>T c.3032A>T n.120A>T c.14727A>T (p.Glu4909Asp) c.14712A>T (p.Glu4904Asp) c.14709A>T (p.Glu4903Asp) c.14694A>T (p.Glu4898Asp) c.14724A>T (p.Glu4908Asp) c.14640A>T (p.Glu4880Asp) | |
19 | g.38585024T>A | CA081306 | RYR1 | c.1664T>A c.3061T>A c.3033T>A n.121T>A c.14728T>A (p.Tyr4910Asn) c.14713T>A (p.Tyr4905Asn) c.14710T>A (p.Tyr4904Asn) c.14695T>A (p.Tyr4899Asn) c.14725T>A (p.Tyr4909Asn) c.14641T>A (p.Tyr4881Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38585024T>C | CA405690613 | RYR1 | c.1664T>C c.3061T>C c.3033T>C n.121T>C c.14728T>C (p.Tyr4910His) c.14713T>C (p.Tyr4905His) c.14710T>C (p.Tyr4904His) c.14695T>C (p.Tyr4899His) c.14725T>C (p.Tyr4909His) c.14641T>C (p.Tyr4881His) | |
19 | g.38585024T>G | CA405690612 | RYR1 | c.1664T>G c.3061T>G c.3033T>G n.121T>G c.14728T>G (p.Tyr4910Asp) c.14713T>G (p.Tyr4905Asp) c.14710T>G (p.Tyr4904Asp) c.14695T>G (p.Tyr4899Asp) c.14725T>G (p.Tyr4909Asp) c.14641T>G (p.Tyr4881Asp) | |
19 | g.38585024T= | CA2335094968 | RYR1 | c.1664T= c.3061T= c.3033T= n.121T= c.14728T= (p.Tyr4910=) c.14713T= (p.Tyr4905=) c.14710T= (p.Tyr4904=) c.14695T= (p.Tyr4899=) c.14725T= (p.Tyr4909=) c.14641T= (p.Tyr4881=) | |
19 | g.38585025A>C | CA405690616 | RYR1 | c.1665A>C c.3062A>C c.3034A>C n.122A>C c.14729A>C (p.Tyr4910Ser) c.14714A>C (p.Tyr4905Ser) c.14711A>C (p.Tyr4904Ser) c.14696A>C (p.Tyr4899Ser) c.14726A>C (p.Tyr4909Ser) c.14642A>C (p.Tyr4881Ser) | |
19 | g.38585025A>G | CA405690622 | RYR1 | c.1665A>G c.3062A>G c.3034A>G n.122A>G c.14729A>G (p.Tyr4910Cys) c.14714A>G (p.Tyr4905Cys) c.14711A>G (p.Tyr4904Cys) c.14696A>G (p.Tyr4899Cys) c.14726A>G (p.Tyr4909Cys) c.14642A>G (p.Tyr4881Cys) | |
19 | g.38585025A>T | CA405690631 | RYR1 | c.1665A>T c.3062A>T c.3034A>T n.122A>T c.14729A>T (p.Tyr4910Phe) c.14714A>T (p.Tyr4905Phe) c.14711A>T (p.Tyr4904Phe) c.14696A>T (p.Tyr4899Phe) c.14726A>T (p.Tyr4909Phe) c.14642A>T (p.Tyr4881Phe) | |
19 | g.38585026C>A | CA405690636 | RYR1 | c.1666C>A c.3063C>A c.3035C>A n.123C>A c.14730C>A (p.Tyr4910Ter) c.14715C>A (p.Tyr4905Ter) c.14712C>A (p.Tyr4904Ter) c.14697C>A (p.Tyr4899Ter) c.14727C>A (p.Tyr4909Ter) c.14643C>A (p.Tyr4881Ter) | |
19 | g.38585026C= | CA2335094969 | RYR1 | c.1666C= c.3063C= c.3035C= n.123C= c.14730C= (p.Tyr4910=) c.14715C= (p.Tyr4905=) c.14712C= (p.Tyr4904=) c.14697C= (p.Tyr4899=) c.14727C= (p.Tyr4909=) c.14643C= (p.Tyr4881=) | |
19 | g.38585026C>G | CA405690638 | RYR1 | c.1666C>G c.3063C>G c.3035C>G n.123C>G c.14730C>G (p.Tyr4910Ter) c.14715C>G (p.Tyr4905Ter) c.14712C>G (p.Tyr4904Ter) c.14697C>G (p.Tyr4899Ter) c.14727C>G (p.Tyr4909Ter) c.14643C>G (p.Tyr4881Ter) | |
19 | g.38585026C>T | CA061563 | RYR1 | c.1666C>T c.3063C>T c.3035C>T n.123C>T c.14730C>T (p.Tyr4910=) c.14715C>T (p.Tyr4905=) c.14712C>T (p.Tyr4904=) c.14697C>T (p.Tyr4899=) c.14727C>T (p.Tyr4909=) c.14643C>T (p.Tyr4881=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38585027G>A | CA10606470 | RYR1 | c.1667G>A c.3064G>A c.3036G>A n.124G>A c.14731G>A (p.Glu4911Lys) c.14716G>A (p.Glu4906Lys) c.14713G>A (p.Glu4905Lys) c.14698G>A (p.Glu4900Lys) c.14728G>A (p.Glu4910Lys) c.14644G>A (p.Glu4882Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38585027G>C | CA405690645 | RYR1 | c.1667G>C c.3064G>C c.3036G>C n.124G>C c.14731G>C (p.Glu4911Gln) c.14716G>C (p.Glu4906Gln) c.14713G>C (p.Glu4905Gln) c.14698G>C (p.Glu4900Gln) c.14728G>C (p.Glu4910Gln) c.14644G>C (p.Glu4882Gln) | |
19 | g.38585027G= | CA2335094970 | RYR1 | c.1667G= c.3064G= c.3036G= n.124G= c.14731G= (p.Glu4911=) c.14716G= (p.Glu4906=) c.14713G= (p.Glu4905=) c.14698G= (p.Glu4900=) c.14728G= (p.Glu4910=) c.14644G= (p.Glu4882=) | |
19 | g.38585027G>T | CA405690647 | RYR1 | c.1667G>T c.3064G>T c.3036G>T n.124G>T c.14731G>T (p.Glu4911Ter) c.14716G>T (p.Glu4906Ter) c.14713G>T (p.Glu4905Ter) c.14698G>T (p.Glu4900Ter) c.14728G>T (p.Glu4910Ter) c.14644G>T (p.Glu4882Ter) | |
19 | g.38585028A>C | CA405690656 | RYR1 | c.1668A>C c.3065A>C c.3037A>C n.125A>C c.14732A>C (p.Glu4911Ala) c.14717A>C (p.Glu4906Ala) c.14714A>C (p.Glu4905Ala) c.14699A>C (p.Glu4900Ala) c.14729A>C (p.Glu4910Ala) c.14645A>C (p.Glu4882Ala) | |
19 | g.38585028A>G | CA405690652 | RYR1 | c.1668A>G c.3065A>G c.3037A>G n.125A>G c.14732A>G (p.Glu4911Gly) c.14717A>G (p.Glu4906Gly) c.14714A>G (p.Glu4905Gly) c.14699A>G (p.Glu4900Gly) c.14729A>G (p.Glu4910Gly) c.14645A>G (p.Glu4882Gly) | |
19 | g.38585028A>T | CA405690650 | RYR1 | c.1668A>T c.3065A>T c.3037A>T n.125A>T c.14732A>T (p.Glu4911Val) c.14717A>T (p.Glu4906Val) c.14714A>T (p.Glu4905Val) c.14699A>T (p.Glu4900Val) c.14729A>T (p.Glu4910Val) c.14645A>T (p.Glu4882Val) |