Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38543315G>A | CA633066743 | RYR1 | c.100-32G>A c.82-32G>A c.11690-32G>A (n.11690-32G>A) c.11675-32G>A (n.11675-32G>A) c.11672-32G>A (n.11672-32G>A) c.299-32G>A c.5059-32G>A c.11657-32G>A (n.11657-32G>A) c.11687-32G>A (n.11687-32G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38543315G>C | CA080404 | RYR1 | c.100-32G>C c.82-32G>C c.11690-32G>C (n.11690-32G>C) c.11675-32G>C (n.11675-32G>C) c.11672-32G>C (n.11672-32G>C) c.299-32G>C c.5059-32G>C c.11657-32G>C (n.11657-32G>C) c.11687-32G>C (n.11687-32G>C) | |
19 | g.38543315G= | CA2335074283 | RYR1 | c.100-32G= c.82-32G= c.11690-32G= (n.11690-32G=) c.11675-32G= (n.11675-32G=) c.11672-32G= (n.11672-32G=) c.299-32G= c.5059-32G= c.11657-32G= (n.11657-32G=) c.11687-32G= (n.11687-32G=) | |
19 | g.38543316G>A | CA057498 | RYR1 | c.100-31G>A c.82-31G>A c.11690-31G>A (n.11690-31G>A) c.11675-31G>A (n.11675-31G>A) c.11672-31G>A (n.11672-31G>A) c.299-31G>A c.5059-31G>A c.11657-31G>A (n.11657-31G>A) c.11687-31G>A (n.11687-31G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543316G= | CA2335074284 | RYR1 | c.100-31G= c.82-31G= c.11690-31G= (n.11690-31G=) c.11675-31G= (n.11675-31G=) c.11672-31G= (n.11672-31G=) c.299-31G= c.5059-31G= c.11657-31G= (n.11657-31G=) c.11687-31G= (n.11687-31G=) | |
19 | g.38543316G>T | CA633066744 | RYR1 | c.100-31G>T c.82-31G>T c.11690-31G>T (n.11690-31G>T) c.11675-31G>T (n.11675-31G>T) c.11672-31G>T (n.11672-31G>T) c.299-31G>T c.5059-31G>T c.11657-31G>T (n.11657-31G>T) c.11687-31G>T (n.11687-31G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38543317T>A | CA308091923 | RYR1 | c.100-30T>A c.82-30T>A c.11690-30T>A (n.11690-30T>A) c.11675-30T>A (n.11675-30T>A) c.11672-30T>A (n.11672-30T>A) c.299-30T>A c.5059-30T>A c.11657-30T>A (n.11657-30T>A) c.11687-30T>A (n.11687-30T>A) | dbSNP gnomAD v4 |
19 | g.38543317T= | CA2335074285 | RYR1 | c.100-30T= c.82-30T= c.11690-30T= (n.11690-30T=) c.11675-30T= (n.11675-30T=) c.11672-30T= (n.11672-30T=) c.299-30T= c.5059-30T= c.11657-30T= (n.11657-30T=) c.11687-30T= (n.11687-30T=) | |
19 | g.38543318G>A | CA2576804828 | RYR1 | c.100-29G>A c.82-29G>A c.11690-29G>A (n.11690-29G>A) c.11675-29G>A (n.11675-29G>A) c.11672-29G>A (n.11672-29G>A) c.299-29G>A c.5059-29G>A c.11657-29G>A (n.11657-29G>A) c.11687-29G>A (n.11687-29G>A) | |
19 | g.38543318G= | CA2335074286 | RYR1 | c.100-29G= c.82-29G= c.11690-29G= (n.11690-29G=) c.11675-29G= (n.11675-29G=) c.11672-29G= (n.11672-29G=) c.299-29G= c.5059-29G= c.11657-29G= (n.11657-29G=) c.11687-29G= (n.11687-29G=) | |
19 | g.38543318G>T | CA057496 | RYR1 | c.100-29G>T c.82-29G>T c.11690-29G>T (n.11690-29G>T) c.11675-29G>T (n.11675-29G>T) c.11672-29G>T (n.11672-29G>T) c.299-29G>T c.5059-29G>T c.11657-29G>T (n.11657-29G>T) c.11687-29G>T (n.11687-29G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543319C>T | CA2814346115 | RYR1 | c.100-28C>T c.82-28C>T c.11690-28C>T (n.11690-28C>T) c.11675-28C>T (n.11675-28C>T) c.11672-28C>T (n.11672-28C>T) c.299-28C>T c.5059-28C>T c.11657-28C>T (n.11657-28C>T) c.11687-28C>T (n.11687-28C>T) | |
19 | g.38543321G>A | CA2584908077 | RYR1 | c.100-26G>A c.82-26G>A c.11690-26G>A (n.11690-26G>A) c.11675-26G>A (n.11675-26G>A) c.11672-26G>A (n.11672-26G>A) c.299-26G>A c.5059-26G>A c.11657-26G>A (n.11657-26G>A) c.11687-26G>A (n.11687-26G>A) | gnomAD v4 |
19 | g.38543321G>T | CA080402 | RYR1 | c.100-26G>T c.82-26G>T c.11690-26G>T (n.11690-26G>T) c.11675-26G>T (n.11675-26G>T) c.11672-26G>T (n.11672-26G>T) c.299-26G>T c.5059-26G>T c.11657-26G>T (n.11657-26G>T) c.11687-26G>T (n.11687-26G>T) | |
19 | g.38543323A= | CA2335074287 | RYR1 | c.100-24A= c.82-24A= c.11690-24A= (n.11690-24A=) c.11675-24A= (n.11675-24A=) c.11672-24A= (n.11672-24A=) c.299-24A= c.5059-24A= c.11657-24A= (n.11657-24A=) c.11687-24A= (n.11687-24A=) | |
19 | g.38543323A>G | CA882060482 | RYR1 | c.100-24A>G c.82-24A>G c.11690-24A>G (n.11690-24A>G) c.11675-24A>G (n.11675-24A>G) c.11672-24A>G (n.11672-24A>G) c.299-24A>G c.5059-24A>G c.11657-24A>G (n.11657-24A>G) c.11687-24A>G (n.11687-24A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38543324T>C | CA057491 | RYR1 | c.100-23T>C c.82-23T>C c.11690-23T>C (n.11690-23T>C) c.11675-23T>C (n.11675-23T>C) c.11672-23T>C (n.11672-23T>C) c.299-23T>C c.5059-23T>C c.11657-23T>C (n.11657-23T>C) c.11687-23T>C (n.11687-23T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543324T= | CA2335074288 | RYR1 | c.100-23T= c.82-23T= c.11690-23T= (n.11690-23T=) c.11675-23T= (n.11675-23T=) c.11672-23T= (n.11672-23T=) c.299-23T= c.5059-23T= c.11657-23T= (n.11657-23T=) c.11687-23T= (n.11687-23T=) | |
19 | g.38543327A= | CA2335074289 | RYR1 | c.100-20A= c.82-20A= c.11690-20A= (n.11690-20A=) c.11675-20A= (n.11675-20A=) c.11672-20A= (n.11672-20A=) c.299-20A= c.5059-20A= c.11657-20A= (n.11657-20A=) c.11687-20A= (n.11687-20A=) | |
19 | g.38543327A>G | CA057486 | RYR1 | c.100-20A>G c.82-20A>G c.11690-20A>G (n.11690-20A>G) c.11675-20A>G (n.11675-20A>G) c.11672-20A>G (n.11672-20A>G) c.299-20A>G c.5059-20A>G c.11657-20A>G (n.11657-20A>G) c.11687-20A>G (n.11687-20A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543329G>A | CA633066745 | RYR1 | c.100-18G>A c.82-18G>A c.11690-18G>A (n.11690-18G>A) c.11675-18G>A (n.11675-18G>A) c.11672-18G>A (n.11672-18G>A) c.299-18G>A c.5059-18G>A c.11657-18G>A (n.11657-18G>A) c.11687-18G>A (n.11687-18G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38543329G= | CA2335074290 | RYR1 | c.100-18G= c.82-18G= c.11690-18G= (n.11690-18G=) c.11675-18G= (n.11675-18G=) c.11672-18G= (n.11672-18G=) c.299-18G= c.5059-18G= c.11657-18G= (n.11657-18G=) c.11687-18G= (n.11687-18G=) | |
19 | g.38543330A>G | CA080400 | RYR1 | c.100-17A>G c.82-17A>G c.11690-17A>G (n.11690-17A>G) c.11675-17A>G (n.11675-17A>G) c.11672-17A>G (n.11672-17A>G) c.299-17A>G c.5059-17A>G c.11657-17A>G (n.11657-17A>G) c.11687-17A>G (n.11687-17A>G) | |
19 | g.38543331C>A | CA2335074293 | RYR1 | c.100-16C>A c.82-16C>A c.11690-16C>A (n.11690-16C>A) c.11675-16C>A (n.11675-16C>A) c.11672-16C>A (n.11672-16C>A) c.299-16C>A c.5059-16C>A c.11657-16C>A (n.11657-16C>A) c.11687-16C>A (n.11687-16C>A) | dbSNP |
19 | g.38543331C= | CA2335074292 | RYR1 | c.100-16C= c.82-16C= c.11690-16C= (n.11690-16C=) c.11675-16C= (n.11675-16C=) c.11672-16C= (n.11672-16C=) c.299-16C= c.5059-16C= c.11657-16C= (n.11657-16C=) c.11687-16C= (n.11687-16C=) | |
19 | g.38543331C>T | CA2335074294 | RYR1 | c.100-16C>T c.82-16C>T c.11690-16C>T (n.11690-16C>T) c.11675-16C>T (n.11675-16C>T) c.11672-16C>T (n.11672-16C>T) c.299-16C>T c.5059-16C>T c.11657-16C>T (n.11657-16C>T) c.11687-16C>T (n.11687-16C>T) | dbSNP gnomAD v4 |
19 | g.38543331_38543333delinsCTT | CA2335074291 | RYR1 | c.100-16_100-14delinsCTT c.82-16_82-14delinsCTT c.11690-16_11690-14delinsCTT (n.11690-16_11690-14delinsCTT) c.11675-16_11675-14delinsCTT (n.11675-16_11675-14delinsCTT) c.11672-16_11672-14delinsCTT (n.11672-16_11672-14delinsCTT) c.299-16_299-14delinsCTT c.5059-16_5059-14delinsCTT c.11657-16_11657-14delinsCTT (n.11657-16_11657-14delinsCTT) c.11687-16_11687-14delinsCTT (n.11687-16_11687-14delinsCTT) | |
19 | g.38543334_38543335del | CA057483 | RYR1 | c.100-13_100-12del c.82-13_82-12del c.11690-13_11690-12del (n.11690-13_11690-12del) c.11675-13_11675-12del (n.11675-13_11675-12del) c.11672-13_11672-12del (n.11672-13_11672-12del) c.299-13_299-12del c.5059-13_5059-12del c.11657-13_11657-12del (n.11657-13_11657-12del) c.11687-13_11687-12del (n.11687-13_11687-12del) | dbSNP ExAC |
19 | g.38543333T>C | CA2814346118 | RYR1 | c.100-14T>C c.82-14T>C c.11690-14T>C (n.11690-14T>C) c.11675-14T>C (n.11675-14T>C) c.11672-14T>C (n.11672-14T>C) c.299-14T>C c.5059-14T>C c.11657-14T>C (n.11657-14T>C) c.11687-14T>C (n.11687-14T>C) | |
19 | g.38543334T>C | CA2584908078 | RYR1 | c.100-13T>C c.82-13T>C c.11690-13T>C (n.11690-13T>C) c.11675-13T>C (n.11675-13T>C) c.11672-13T>C (n.11672-13T>C) c.299-13T>C c.5059-13T>C c.11657-13T>C (n.11657-13T>C) c.11687-13T>C (n.11687-13T>C) | gnomAD v4 |
19 | g.38543335T= | CA2335074295 | RYR1 | c.100-12T= c.82-12T= c.11690-12T= (n.11690-12T=) c.11675-12T= (n.11675-12T=) c.11672-12T= (n.11672-12T=) c.299-12T= c.5059-12T= c.11657-12T= (n.11657-12T=) c.11687-12T= (n.11687-12T=) | |
19 | g.38543336C>A | CA633066747 | RYR1 | c.100-11C>A c.82-11C>A c.11690-11C>A (n.11690-11C>A) c.11675-11C>A (n.11675-11C>A) c.11672-11C>A (n.11672-11C>A) c.299-11C>A c.5059-11C>A c.11657-11C>A (n.11657-11C>A) c.11687-11C>A (n.11687-11C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38543336C= | CA2335074296 | RYR1 | c.100-11C= c.82-11C= c.11690-11C= (n.11690-11C=) c.11675-11C= (n.11675-11C=) c.11672-11C= (n.11672-11C=) c.299-11C= c.5059-11C= c.11657-11C= (n.11657-11C=) c.11687-11C= (n.11687-11C=) | |
19 | g.38543336C>T | CA2814346122 | RYR1 | c.100-11C>T c.82-11C>T c.11690-11C>T (n.11690-11C>T) c.11675-11C>T (n.11675-11C>T) c.11672-11C>T (n.11672-11C>T) c.299-11C>T c.5059-11C>T c.11657-11C>T (n.11657-11C>T) c.11687-11C>T (n.11687-11C>T) | |
19 | g.38543336dup | CA633066746 | RYR1 | c.100-11dup c.82-11dup c.11690-11dup (n.11690-11dup) c.11675-11dup (n.11675-11dup) c.11672-11dup (n.11672-11dup) c.299-11dup c.5059-11dup c.11657-11dup (n.11657-11dup) c.11687-11dup (n.11687-11dup) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38543339C>A | CA2697556578 | RYR1 | c.100-8C>A c.82-8C>A c.11690-8C>A (n.11690-8C>A) c.11675-8C>A (n.11675-8C>A) c.11672-8C>A (n.11672-8C>A) c.299-8C>A c.5059-8C>A c.11657-8C>A (n.11657-8C>A) c.11687-8C>A (n.11687-8C>A) | ClinVar |
19 | g.38543339C= | CA2335074297 | RYR1 | c.100-8C= c.82-8C= c.11690-8C= (n.11690-8C=) c.11675-8C= (n.11675-8C=) c.11672-8C= (n.11672-8C=) c.299-8C= c.5059-8C= c.11657-8C= (n.11657-8C=) c.11687-8C= (n.11687-8C=) | |
19 | g.38543339C>G | CA633066748 | RYR1 | c.100-8C>G c.82-8C>G c.11690-8C>G (n.11690-8C>G) c.11675-8C>G (n.11675-8C>G) c.11672-8C>G (n.11672-8C>G) c.299-8C>G c.5059-8C>G c.11657-8C>G (n.11657-8C>G) c.11687-8C>G (n.11687-8C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38543341C>A | CA2584908080 | RYR1 | c.100-6C>A c.82-6C>A c.11690-6C>A (n.11690-6C>A) c.11675-6C>A (n.11675-6C>A) c.11672-6C>A (n.11672-6C>A) c.299-6C>A c.5059-6C>A c.11657-6C>A (n.11657-6C>A) c.11687-6C>A (n.11687-6C>A) | gnomAD v4 |
19 | g.38543344del | CA2584908079 | RYR1 | c.100-3del c.82-3del c.11690-3del (n.11690-3del) c.11675-3del (n.11675-3del) c.11672-3del (n.11672-3del) c.299-3del c.5059-3del c.11657-3del (n.11657-3del) c.11687-3del (n.11687-3del) | ClinVar gnomAD v4 |
19 | g.38543342C= | CA2335074298 | RYR1 | c.100-5C= c.82-5C= c.11690-5C= (n.11690-5C=) c.11675-5C= (n.11675-5C=) c.11672-5C= (n.11672-5C=) c.299-5C= c.5059-5C= c.11657-5C= (n.11657-5C=) c.11687-5C= (n.11687-5C=) | |
19 | g.38543342C>G | CA057523 | RYR1 | c.100-5C>G c.82-5C>G c.11690-5C>G (n.11690-5C>G) c.11675-5C>G (n.11675-5C>G) c.11672-5C>G (n.11672-5C>G) c.299-5C>G c.5059-5C>G c.11657-5C>G (n.11657-5C>G) c.11687-5C>G (n.11687-5C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543343C= | CA2335074299 | RYR1 | c.100-4C= c.82-4C= c.11690-4C= (n.11690-4C=) c.11675-4C= (n.11675-4C=) c.11672-4C= (n.11672-4C=) c.299-4C= c.5059-4C= c.11657-4C= (n.11657-4C=) c.11687-4C= (n.11687-4C=) | |
19 | g.38543343C>G | CA995728661 | RYR1 | c.100-4C>G c.82-4C>G c.11690-4C>G (n.11690-4C>G) c.11675-4C>G (n.11675-4C>G) c.11672-4C>G (n.11672-4C>G) c.299-4C>G c.5059-4C>G c.11657-4C>G (n.11657-4C>G) c.11687-4C>G (n.11687-4C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38543344C= | CA2335074300 | RYR1 | c.100-3C= c.82-3C= c.11690-3C= (n.11690-3C=) c.11675-3C= (n.11675-3C=) c.11672-3C= (n.11672-3C=) c.299-3C= c.5059-3C= c.11657-3C= (n.11657-3C=) c.11687-3C= (n.11687-3C=) | |
19 | g.38543344C>G | CA2584908081 | RYR1 | c.100-3C>G c.82-3C>G c.11690-3C>G (n.11690-3C>G) c.11675-3C>G (n.11675-3C>G) c.11672-3C>G (n.11672-3C>G) c.299-3C>G c.5059-3C>G c.11657-3C>G (n.11657-3C>G) c.11687-3C>G (n.11687-3C>G) | gnomAD v4 |
19 | g.38543344C>T | CA882060486 | RYR1 | c.100-3C>T c.82-3C>T c.11690-3C>T (n.11690-3C>T) c.11675-3C>T (n.11675-3C>T) c.11672-3C>T (n.11672-3C>T) c.299-3C>T c.5059-3C>T c.11657-3C>T (n.11657-3C>T) c.11687-3C>T (n.11687-3C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38543345A>C | CA405661040 | RYR1 | c.100-2A>C c.82-2A>C c.11690-2A>C (n.11690-2A>C) c.11675-2A>C (n.11675-2A>C) c.11672-2A>C (n.11672-2A>C) c.299-2A>C c.5059-2A>C c.11657-2A>C (n.11657-2A>C) c.11687-2A>C (n.11687-2A>C) | ClinVar dbSNP |
19 | g.38543345A>G | CA405661038 | RYR1 | c.100-2A>G c.82-2A>G c.11690-2A>G (n.11690-2A>G) c.11675-2A>G (n.11675-2A>G) c.11672-2A>G (n.11672-2A>G) c.299-2A>G c.5059-2A>G c.11657-2A>G (n.11657-2A>G) c.11687-2A>G (n.11687-2A>G) | |
19 | g.38543345A>T | CA405661036 | RYR1 | c.100-2A>T c.82-2A>T c.11690-2A>T (n.11690-2A>T) c.11675-2A>T (n.11675-2A>T) c.11672-2A>T (n.11672-2A>T) c.299-2A>T c.5059-2A>T c.11657-2A>T (n.11657-2A>T) c.11687-2A>T (n.11687-2A>T) | |
19 | g.38543346G>A | CA405661042 | RYR1 | c.100-1G>A c.82-1G>A c.11690-1G>A (n.11690-1G>A) c.11675-1G>A (n.11675-1G>A) c.11672-1G>A (n.11672-1G>A) c.299-1G>A c.5059-1G>A c.11657-1G>A (n.11657-1G>A) c.11687-1G>A (n.11687-1G>A) | |
19 | g.38543346G>C | CA405661044 | RYR1 | c.100-1G>C c.82-1G>C c.11690-1G>C (n.11690-1G>C) c.11675-1G>C (n.11675-1G>C) c.11672-1G>C (n.11672-1G>C) c.299-1G>C c.5059-1G>C c.11657-1G>C (n.11657-1G>C) c.11687-1G>C (n.11687-1G>C) | |
19 | g.38543346G>T | CA405661046 | RYR1 | c.100-1G>T c.82-1G>T c.11690-1G>T (n.11690-1G>T) c.11675-1G>T (n.11675-1G>T) c.11672-1G>T (n.11672-1G>T) c.299-1G>T c.5059-1G>T c.11657-1G>T (n.11657-1G>T) c.11687-1G>T (n.11687-1G>T) | |
19 | g.38543347A= | CA2335074301 | RYR1 | c.100A= c.82A= c.11690A= (p.Asp3897=) c.11675A= (p.Asp3892=) c.11672A= (p.Asp3891=) c.299A= c.5059A= c.11657A= (p.Asp3886=) c.11687A= (p.Asp3896=) | |
19 | g.38543347A>C | CA405661048 | RYR1 | c.100A>C c.82A>C c.11690A>C (p.Asp3897Ala) c.11675A>C (p.Asp3892Ala) c.11672A>C (p.Asp3891Ala) c.299A>C c.5059A>C c.11657A>C (p.Asp3886Ala) c.11687A>C (p.Asp3896Ala) | |
19 | g.38543347A>G | CA405661050 | RYR1 | c.100A>G c.82A>G c.11690A>G (p.Asp3897Gly) c.11675A>G (p.Asp3892Gly) c.11672A>G (p.Asp3891Gly) c.299A>G c.5059A>G c.11657A>G (p.Asp3886Gly) c.11687A>G (p.Asp3896Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38543347A>T | CA405661052 | RYR1 | c.100A>T c.82A>T c.11690A>T (p.Asp3897Val) c.11675A>T (p.Asp3892Val) c.11672A>T (p.Asp3891Val) c.299A>T c.5059A>T c.11657A>T (p.Asp3886Val) c.11687A>T (p.Asp3896Val) | |
19 | g.38543348T>A | CA405661054 | RYR1 | c.101T>A c.83T>A c.11691T>A (p.Asp3897Glu) c.11676T>A (p.Asp3892Glu) c.11673T>A (p.Asp3891Glu) c.300T>A c.5060T>A c.11658T>A (p.Asp3886Glu) c.11688T>A (p.Asp3896Glu) | |
19 | g.38543348T>C | CA057527 | RYR1 | c.101T>C c.83T>C c.11691T>C (p.Asp3897=) c.11676T>C (p.Asp3892=) c.11673T>C (p.Asp3891=) c.300T>C c.5060T>C c.11658T>C (p.Asp3886=) c.11688T>C (p.Asp3896=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543348T>G | CA405661057 | RYR1 | c.101T>G c.83T>G c.11691T>G (p.Asp3897Glu) c.11676T>G (p.Asp3892Glu) c.11673T>G (p.Asp3891Glu) c.300T>G c.5060T>G c.11658T>G (p.Asp3886Glu) c.11688T>G (p.Asp3896Glu) | |
19 | g.38543348T= | CA2335074302 | RYR1 | c.101T= c.83T= c.11691T= (p.Asp3897=) c.11676T= (p.Asp3892=) c.11673T= (p.Asp3891=) c.300T= c.5060T= c.11658T= (p.Asp3886=) c.11688T= (p.Asp3896=) | |
19 | g.38543349T>A | CA405661059 | RYR1 | c.102T>A c.84T>A c.11692T>A (p.Phe3898Ile) c.11677T>A (p.Phe3893Ile) c.11674T>A (p.Phe3892Ile) c.301T>A c.5061T>A c.11659T>A (p.Phe3887Ile) c.11689T>A (p.Phe3897Ile) | |
19 | g.38543349T>C | CA405661062 | RYR1 | c.102T>C c.84T>C c.11692T>C (p.Phe3898Leu) c.11677T>C (p.Phe3893Leu) c.11674T>C (p.Phe3892Leu) c.301T>C c.5061T>C c.11659T>C (p.Phe3887Leu) c.11689T>C (p.Phe3897Leu) | |
19 | g.38543349T>G | CA405661063 | RYR1 | c.102T>G c.84T>G c.11692T>G (p.Phe3898Val) c.11677T>G (p.Phe3893Val) c.11674T>G (p.Phe3892Val) c.301T>G c.5061T>G c.11659T>G (p.Phe3887Val) c.11689T>G (p.Phe3897Val) | |
19 | g.38543350T>A | CA405661068 | RYR1 | c.103T>A c.85T>A c.11693T>A (p.Phe3898Tyr) c.11678T>A (p.Phe3893Tyr) c.11675T>A (p.Phe3892Tyr) c.302T>A c.5062T>A c.11660T>A (p.Phe3887Tyr) c.11690T>A (p.Phe3897Tyr) | |
19 | g.38543350T>C | CA405661070 | RYR1 | c.103T>C c.85T>C c.11693T>C (p.Phe3898Ser) c.11678T>C (p.Phe3893Ser) c.11675T>C (p.Phe3892Ser) c.302T>C c.5062T>C c.11660T>C (p.Phe3887Ser) c.11690T>C (p.Phe3897Ser) | |
19 | g.38543350T>G | CA405661066 | RYR1 | c.103T>G c.85T>G c.11693T>G (p.Phe3898Cys) c.11678T>G (p.Phe3893Cys) c.11675T>G (p.Phe3892Cys) c.302T>G c.5062T>G c.11660T>G (p.Phe3887Cys) c.11690T>G (p.Phe3897Cys) | |
19 | g.38543351C>A | CA405661073 | RYR1 | c.104C>A c.86C>A c.11694C>A (p.Phe3898Leu) c.11679C>A (p.Phe3893Leu) c.11676C>A (p.Phe3892Leu) c.303C>A c.5063C>A c.11661C>A (p.Phe3887Leu) c.11691C>A (p.Phe3897Leu) | ClinVar dbSNP COSMIC |
19 | g.38543351C>G | CA405661074 | RYR1 | c.104C>G c.86C>G c.11694C>G (p.Phe3898Leu) c.11679C>G (p.Phe3893Leu) c.11676C>G (p.Phe3892Leu) c.303C>G c.5063C>G c.11661C>G (p.Phe3887Leu) c.11691C>G (p.Phe3897Leu) | |
19 | g.38543351C>T | CA507354570 | RYR1 | c.104C>T c.86C>T c.11694C>T (p.Phe3898=) c.11679C>T (p.Phe3893=) c.11676C>T (p.Phe3892=) c.303C>T c.5063C>T c.11661C>T (p.Phe3887=) c.11691C>T (p.Phe3897=) | |
19 | g.38543352C>A | CA405661076 | RYR1 | c.105C>A c.87C>A c.11695C>A (p.Gln3899Lys) c.11680C>A (p.Gln3894Lys) c.11677C>A (p.Gln3893Lys) c.304C>A c.5064C>A c.11662C>A (p.Gln3888Lys) c.11692C>A (p.Gln3898Lys) | |
19 | g.38543352C>G | CA405661078 | RYR1 | c.105C>G c.87C>G c.11695C>G (p.Gln3899Glu) c.11680C>G (p.Gln3894Glu) c.11677C>G (p.Gln3893Glu) c.304C>G c.5064C>G c.11662C>G (p.Gln3888Glu) c.11692C>G (p.Gln3898Glu) | |
19 | g.38543352C>T | CA405661082 | RYR1 | c.105C>T c.87C>T c.11695C>T (p.Gln3899Ter) c.11680C>T (p.Gln3894Ter) c.11677C>T (p.Gln3893Ter) c.304C>T c.5064C>T c.11662C>T (p.Gln3888Ter) c.11692C>T (p.Gln3898Ter) | |
19 | g.38543353A>C | CA405661086 | RYR1 | c.106A>C c.88A>C c.11696A>C (p.Gln3899Pro) c.11681A>C (p.Gln3894Pro) c.11678A>C (p.Gln3893Pro) c.305A>C c.5065A>C c.11663A>C (p.Gln3888Pro) c.11693A>C (p.Gln3898Pro) | |
19 | g.38543353A>G | CA405661087 | RYR1 | c.106A>G c.88A>G c.11696A>G (p.Gln3899Arg) c.11681A>G (p.Gln3894Arg) c.11678A>G (p.Gln3893Arg) c.305A>G c.5065A>G c.11663A>G (p.Gln3888Arg) c.11693A>G (p.Gln3898Arg) | |
19 | g.38543353A>T | CA405661089 | RYR1 | c.106A>T c.88A>T c.11696A>T (p.Gln3899Leu) c.11681A>T (p.Gln3894Leu) c.11678A>T (p.Gln3893Leu) c.305A>T c.5065A>T c.11663A>T (p.Gln3888Leu) c.11693A>T (p.Gln3898Leu) | |
19 | g.38543354G>A | CA507354573 | RYR1 | c.107G>A c.89G>A c.11697G>A (p.Gln3899=) c.11682G>A (p.Gln3894=) c.11679G>A (p.Gln3893=) c.306G>A c.5066G>A c.11664G>A (p.Gln3888=) c.11694G>A (p.Gln3898=) | gnomAD v4 |
19 | g.38543354G>C | CA405661092 | RYR1 | c.107G>C c.89G>C c.11697G>C (p.Gln3899His) c.11682G>C (p.Gln3894His) c.11679G>C (p.Gln3893His) c.306G>C c.5066G>C c.11664G>C (p.Gln3888His) c.11694G>C (p.Gln3898His) | ClinVar dbSNP |
19 | g.38543354G= | CA2335074303 | RYR1 | c.107G= c.89G= c.11697G= (p.Gln3899=) c.11682G= (p.Gln3894=) c.11679G= (p.Gln3893=) c.306G= c.5066G= c.11664G= (p.Gln3888=) c.11694G= (p.Gln3898=) | |
19 | g.38543354G>T | CA405661093 | RYR1 | c.107G>T c.89G>T c.11697G>T (p.Gln3899His) c.11682G>T (p.Gln3894His) c.11679G>T (p.Gln3893His) c.306G>T c.5066G>T c.11664G>T (p.Gln3888His) c.11694G>T (p.Gln3898His) | ClinVar dbSNP |
19 | g.38543355A>C | CA405661095 | RYR1 | c.108A>C c.90A>C c.11698A>C (p.Asn3900His) c.11683A>C (p.Asn3895His) c.11680A>C (p.Asn3894His) c.307A>C c.5067A>C c.11665A>C (p.Asn3889His) c.11695A>C (p.Asn3899His) | |
19 | g.38543355A>G | CA405661097 | RYR1 | c.108A>G c.90A>G c.11698A>G (p.Asn3900Asp) c.11683A>G (p.Asn3895Asp) c.11680A>G (p.Asn3894Asp) c.307A>G c.5067A>G c.11665A>G (p.Asn3889Asp) c.11695A>G (p.Asn3899Asp) | |
19 | g.38543355A>T | CA405661099 | RYR1 | c.108A>T c.90A>T c.11698A>T (p.Asn3900Tyr) c.11683A>T (p.Asn3895Tyr) c.11680A>T (p.Asn3894Tyr) c.307A>T c.5067A>T c.11665A>T (p.Asn3889Tyr) c.11695A>T (p.Asn3899Tyr) | ClinVar dbSNP |
19 | g.38543356A>C | CA405661105 | RYR1 | c.109A>C c.91A>C c.11699A>C (p.Asn3900Thr) c.11684A>C (p.Asn3895Thr) c.11681A>C (p.Asn3894Thr) c.308A>C c.5068A>C c.11666A>C (p.Asn3889Thr) c.11696A>C (p.Asn3899Thr) | |
19 | g.38543356A>G | CA405661103 | RYR1 | c.109A>G c.91A>G c.11699A>G (p.Asn3900Ser) c.11684A>G (p.Asn3895Ser) c.11681A>G (p.Asn3894Ser) c.308A>G c.5068A>G c.11666A>G (p.Asn3889Ser) c.11696A>G (p.Asn3899Ser) | |
19 | g.38543356A>T | CA405661101 | RYR1 | c.109A>T c.91A>T c.11699A>T (p.Asn3900Ile) c.11684A>T (p.Asn3895Ile) c.11681A>T (p.Asn3894Ile) c.308A>T c.5068A>T c.11666A>T (p.Asn3889Ile) c.11696A>T (p.Asn3899Ile) | |
19 | g.38543357C>A | CA405661107 | RYR1 | c.110C>A c.92C>A c.11700C>A (p.Asn3900Lys) c.11685C>A (p.Asn3895Lys) c.11682C>A (p.Asn3894Lys) c.309C>A c.5069C>A c.11667C>A (p.Asn3889Lys) c.11697C>A (p.Asn3899Lys) | dbSNP |
19 | g.38543357C= | CA2335074304 | RYR1 | c.110C= c.92C= c.11700C= (p.Asn3900=) c.11685C= (p.Asn3895=) c.11682C= (p.Asn3894=) c.309C= c.5069C= c.11667C= (p.Asn3889=) c.11697C= (p.Asn3899=) | |
19 | g.38543357C>G | CA405661109 | RYR1 | c.110C>G c.92C>G c.11700C>G (p.Asn3900Lys) c.11685C>G (p.Asn3895Lys) c.11682C>G (p.Asn3894Lys) c.309C>G c.5069C>G c.11667C>G (p.Asn3889Lys) c.11697C>G (p.Asn3899Lys) | gnomAD v4 |
19 | g.38543357C>T | CA507354577 | RYR1 | c.110C>T c.92C>T c.11700C>T (p.Asn3900=) c.11685C>T (p.Asn3895=) c.11682C>T (p.Asn3894=) c.309C>T c.5069C>T c.11667C>T (p.Asn3889=) c.11697C>T (p.Asn3899=) | ClinVar |
19 | g.38543358T>A | CA405661111 | RYR1 | c.111T>A c.93T>A c.11701T>A (p.Tyr3901Asn) c.11686T>A (p.Tyr3896Asn) c.11683T>A (p.Tyr3895Asn) c.310T>A c.5070T>A c.11668T>A (p.Tyr3890Asn) c.11698T>A (p.Tyr3900Asn) | |
19 | g.38543358T>C | CA405661113 | RYR1 | c.111T>C c.93T>C c.11701T>C (p.Tyr3901His) c.11686T>C (p.Tyr3896His) c.11683T>C (p.Tyr3895His) c.310T>C c.5070T>C c.11668T>C (p.Tyr3890His) c.11698T>C (p.Tyr3900His) | |
19 | g.38543358T>G | CA405661114 | RYR1 | c.111T>G c.93T>G c.11701T>G (p.Tyr3901Asp) c.11686T>G (p.Tyr3896Asp) c.11683T>G (p.Tyr3895Asp) c.310T>G c.5070T>G c.11668T>G (p.Tyr3890Asp) c.11698T>G (p.Tyr3900Asp) | |
19 | g.38543359A>C | CA405661116 | RYR1 | c.112A>C c.94A>C c.11702A>C (p.Tyr3901Ser) c.11687A>C (p.Tyr3896Ser) c.11684A>C (p.Tyr3895Ser) c.311A>C c.5071A>C c.11669A>C (p.Tyr3890Ser) c.11699A>C (p.Tyr3900Ser) | |
19 | g.38543359A>G | CA405661118 | RYR1 | c.112A>G c.94A>G c.11702A>G (p.Tyr3901Cys) c.11687A>G (p.Tyr3896Cys) c.11684A>G (p.Tyr3895Cys) c.311A>G c.5071A>G c.11669A>G (p.Tyr3890Cys) c.11699A>G (p.Tyr3900Cys) | |
19 | g.38543359A>T | CA405661120 | RYR1 | c.112A>T c.94A>T c.11702A>T (p.Tyr3901Phe) c.11687A>T (p.Tyr3896Phe) c.11684A>T (p.Tyr3895Phe) c.311A>T c.5071A>T c.11669A>T (p.Tyr3890Phe) c.11699A>T (p.Tyr3900Phe) | |
19 | g.38543360C>A | CA405661122 | RYR1 | c.113C>A c.95C>A c.11703C>A (p.Tyr3901Ter) c.11688C>A (p.Tyr3896Ter) c.11685C>A (p.Tyr3895Ter) c.312C>A c.5072C>A c.11670C>A (p.Tyr3890Ter) c.11700C>A (p.Tyr3900Ter) | |
19 | g.38543360C= | CA2335074305 | RYR1 | c.113C= c.95C= c.11703C= (p.Tyr3901=) c.11688C= (p.Tyr3896=) c.11685C= (p.Tyr3895=) c.312C= c.5072C= c.11670C= (p.Tyr3890=) c.11700C= (p.Tyr3900=) | |
19 | g.38543360C>G | CA405661124 | RYR1 | c.113C>G c.95C>G c.11703C>G (p.Tyr3901Ter) c.11688C>G (p.Tyr3896Ter) c.11685C>G (p.Tyr3895Ter) c.312C>G c.5072C>G c.11670C>G (p.Tyr3890Ter) c.11700C>G (p.Tyr3900Ter) | |
19 | g.38543360C>T | CA507354583 | RYR1 | c.113C>T c.95C>T c.11703C>T (p.Tyr3901=) c.11688C>T (p.Tyr3896=) c.11685C>T (p.Tyr3895=) c.312C>T c.5072C>T c.11670C>T (p.Tyr3890=) c.11700C>T (p.Tyr3900=) | dbSNP |
19 | g.38543361C>A | CA405661127 | RYR1 | c.114C>A c.96C>A c.11704C>A (p.Leu3902Ile) c.11689C>A (p.Leu3897Ile) c.11686C>A (p.Leu3896Ile) c.313C>A c.5073C>A c.11671C>A (p.Leu3891Ile) c.11701C>A (p.Leu3901Ile) | |
19 | g.38543361C= | CA2335074306 | RYR1 | c.114C= c.96C= c.11704C= (p.Leu3902=) c.11689C= (p.Leu3897=) c.11686C= (p.Leu3896=) c.313C= c.5073C= c.11671C= (p.Leu3891=) c.11701C= (p.Leu3901=) | |
19 | g.38543361C>G | CA405661129 | RYR1 | c.114C>G c.96C>G c.11704C>G (p.Leu3902Val) c.11689C>G (p.Leu3897Val) c.11686C>G (p.Leu3896Val) c.313C>G c.5073C>G c.11671C>G (p.Leu3891Val) c.11701C>G (p.Leu3901Val) | dbSNP COSMIC |
19 | g.38543361C>T | CA507354586 | RYR1 | c.114C>T c.96C>T c.11704C>T (p.Leu3902=) c.11689C>T (p.Leu3897=) c.11686C>T (p.Leu3896=) c.313C>T c.5073C>T c.11671C>T (p.Leu3891=) c.11701C>T (p.Leu3901=) | ClinVar dbSNP |
19 | g.38543362T>A | CA405661135 | RYR1 | c.115T>A c.97T>A c.11705T>A (p.Leu3902Gln) c.11690T>A (p.Leu3897Gln) c.11687T>A (p.Leu3896Gln) c.314T>A c.5074T>A c.11672T>A (p.Leu3891Gln) c.11702T>A (p.Leu3901Gln) | |
19 | g.38543362T>C | CA405661133 | RYR1 | c.115T>C c.97T>C c.11705T>C (p.Leu3902Pro) c.11690T>C (p.Leu3897Pro) c.11687T>C (p.Leu3896Pro) c.314T>C c.5074T>C c.11672T>C (p.Leu3891Pro) c.11702T>C (p.Leu3901Pro) | |
19 | g.38543362T>G | CA405661131 | RYR1 | c.115T>G c.97T>G c.11705T>G (p.Leu3902Arg) c.11690T>G (p.Leu3897Arg) c.11687T>G (p.Leu3896Arg) c.314T>G c.5074T>G c.11672T>G (p.Leu3891Arg) c.11702T>G (p.Leu3901Arg) | |
19 | g.38543363A= | CA2335074307 | RYR1 | c.116A= c.98A= c.11706A= (p.Leu3902=) c.11691A= (p.Leu3897=) c.11688A= (p.Leu3896=) c.315A= c.5075A= c.11673A= (p.Leu3891=) c.11703A= (p.Leu3901=) | |
19 | g.38543363A>C | CA507354590 | RYR1 | c.116A>C c.98A>C c.11706A>C (p.Leu3902=) c.11691A>C (p.Leu3897=) c.11688A>C (p.Leu3896=) c.315A>C c.5075A>C c.11673A>C (p.Leu3891=) c.11703A>C (p.Leu3901=) | |
19 | g.38543363A>G | CA057532 | RYR1 | c.116A>G c.98A>G c.11706A>G (p.Leu3902=) c.11691A>G (p.Leu3897=) c.11688A>G (p.Leu3896=) c.315A>G c.5075A>G c.11673A>G (p.Leu3891=) c.11703A>G (p.Leu3901=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543363A>T | CA507354591 | RYR1 | c.116A>T c.98A>T c.11706A>T (p.Leu3902=) c.11691A>T (p.Leu3897=) c.11688A>T (p.Leu3896=) c.315A>T c.5075A>T c.11673A>T (p.Leu3891=) c.11703A>T (p.Leu3901=) | |
19 | g.38543364C>A | CA507354592 | RYR1 | c.117C>A c.99C>A c.11707C>A (p.Arg3903=) c.11692C>A (p.Arg3898=) c.11689C>A (p.Arg3897=) c.316C>A c.5076C>A c.11674C>A (p.Arg3892=) c.11704C>A (p.Arg3902=) | gnomAD v4 |
19 | g.38543364C= | CA2335074308 | RYR1 | c.117C= c.99C= c.11707C= (p.Arg3903=) c.11692C= (p.Arg3898=) c.11689C= (p.Arg3897=) c.316C= c.5076C= c.11674C= (p.Arg3892=) c.11704C= (p.Arg3902=) | |
19 | g.38543364C>G | CA405661137 | RYR1 | c.117C>G c.99C>G c.11707C>G (p.Arg3903Gly) c.11692C>G (p.Arg3898Gly) c.11689C>G (p.Arg3897Gly) c.316C>G c.5076C>G c.11674C>G (p.Arg3892Gly) c.11704C>G (p.Arg3902Gly) | |
19 | g.38543364C>T | CA405661138 | RYR1 | c.117C>T c.99C>T c.11707C>T (p.Arg3903Trp) c.11692C>T (p.Arg3898Trp) c.11689C>T (p.Arg3897Trp) c.316C>T c.5076C>T c.11674C>T (p.Arg3892Trp) c.11704C>T (p.Arg3902Trp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38543365G>A | CA023926 | RYR1 | c.118G>A c.100G>A c.11708G>A (p.Arg3903Gln) c.11693G>A (p.Arg3898Gln) c.11690G>A (p.Arg3897Gln) c.317G>A c.5077G>A c.11675G>A (p.Arg3892Gln) c.11705G>A (p.Arg3902Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38543365G>C | CA405661141 | RYR1 | c.118G>C c.100G>C c.11708G>C (p.Arg3903Pro) c.11693G>C (p.Arg3898Pro) c.11690G>C (p.Arg3897Pro) c.317G>C c.5077G>C c.11675G>C (p.Arg3892Pro) c.11705G>C (p.Arg3902Pro) | ClinVar |
19 | g.38543365G= | CA2335074309 | RYR1 | c.118G= c.100G= c.11708G= (p.Arg3903=) c.11693G= (p.Arg3898=) c.11690G= (p.Arg3897=) c.317G= c.5077G= c.11675G= (p.Arg3892=) c.11705G= (p.Arg3902=) | |
19 | g.38543365G>T | CA405661143 | RYR1 | c.118G>T c.100G>T c.11708G>T (p.Arg3903Leu) c.11693G>T (p.Arg3898Leu) c.11690G>T (p.Arg3897Leu) c.317G>T c.5077G>T c.11675G>T (p.Arg3892Leu) c.11705G>T (p.Arg3902Leu) | ClinVar gnomAD v4 |
19 | g.38543366G>A | CA507354594 | RYR1 | c.119G>A c.101G>A c.11709G>A (p.Arg3903=) c.11694G>A (p.Arg3898=) c.11691G>A (p.Arg3897=) c.318G>A c.5078G>A c.11676G>A (p.Arg3892=) c.11706G>A (p.Arg3902=) | COSMIC |
19 | g.38543366G>C | CA507354595 | RYR1 | c.119G>C c.101G>C c.11709G>C (p.Arg3903=) c.11694G>C (p.Arg3898=) c.11691G>C (p.Arg3897=) c.318G>C c.5078G>C c.11676G>C (p.Arg3892=) c.11706G>C (p.Arg3902=) | |
19 | g.38543366G>T | CA507354596 | RYR1 | c.119G>T c.101G>T c.11709G>T (p.Arg3903=) c.11694G>T (p.Arg3898=) c.11691G>T (p.Arg3897=) c.318G>T c.5078G>T c.11676G>T (p.Arg3892=) c.11706G>T (p.Arg3902=) | |
19 | g.38543367A>C | CA405661145 | RYR1 | c.120A>C c.102A>C c.11710A>C (p.Thr3904Pro) c.11695A>C (p.Thr3899Pro) c.11692A>C (p.Thr3898Pro) c.319A>C c.5079A>C c.11677A>C (p.Thr3893Pro) c.11707A>C (p.Thr3903Pro) | |
19 | g.38543367A>G | CA405661147 | RYR1 | c.120A>G c.102A>G c.11710A>G (p.Thr3904Ala) c.11695A>G (p.Thr3899Ala) c.11692A>G (p.Thr3898Ala) c.319A>G c.5079A>G c.11677A>G (p.Thr3893Ala) c.11707A>G (p.Thr3903Ala) | |
19 | g.38543367A>T | CA405661149 | RYR1 | c.120A>T c.102A>T c.11710A>T (p.Thr3904Ser) c.11695A>T (p.Thr3899Ser) c.11692A>T (p.Thr3898Ser) c.319A>T c.5079A>T c.11677A>T (p.Thr3893Ser) c.11707A>T (p.Thr3903Ser) | |
19 | g.38543368C>A | CA405661152 | RYR1 | c.121C>A c.103C>A c.11711C>A (p.Thr3904Lys) c.11696C>A (p.Thr3899Lys) c.11693C>A (p.Thr3898Lys) c.320C>A c.5080C>A c.11678C>A (p.Thr3893Lys) c.11708C>A (p.Thr3903Lys) | |
19 | g.38543368C>G | CA405661154 | RYR1 | c.121C>G c.103C>G c.11711C>G (p.Thr3904Arg) c.11696C>G (p.Thr3899Arg) c.11693C>G (p.Thr3898Arg) c.320C>G c.5080C>G c.11678C>G (p.Thr3893Arg) c.11708C>G (p.Thr3903Arg) | |
19 | g.38543368C>T | CA405661155 | RYR1 | c.121C>T c.103C>T c.11711C>T (p.Thr3904Ile) c.11696C>T (p.Thr3899Ile) c.11693C>T (p.Thr3898Ile) c.320C>T c.5080C>T c.11678C>T (p.Thr3893Ile) c.11708C>T (p.Thr3903Ile) | gnomAD v4 |
19 | g.38543369A= | CA2335074310 | RYR1 | c.122A= c.104A= c.11712A= (p.Thr3904=) c.11697A= (p.Thr3899=) c.11694A= (p.Thr3898=) c.321A= c.5081A= c.11679A= (p.Thr3893=) c.11709A= (p.Thr3903=) | |
19 | g.38543369A>C | CA507354602 | RYR1 | c.122A>C c.104A>C c.11712A>C (p.Thr3904=) c.11697A>C (p.Thr3899=) c.11694A>C (p.Thr3898=) c.321A>C c.5081A>C c.11679A>C (p.Thr3893=) c.11709A>C (p.Thr3903=) | |
19 | g.38543369A>G | CA057538 | RYR1 | c.122A>G c.104A>G c.11712A>G (p.Thr3904=) c.11697A>G (p.Thr3899=) c.11694A>G (p.Thr3898=) c.321A>G c.5081A>G c.11679A>G (p.Thr3893=) c.11709A>G (p.Thr3903=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543369A>T | CA507354603 | RYR1 | c.122A>T c.104A>T c.11712A>T (p.Thr3904=) c.11697A>T (p.Thr3899=) c.11694A>T (p.Thr3898=) c.321A>T c.5081A>T c.11679A>T (p.Thr3893=) c.11709A>T (p.Thr3903=) | |
19 | g.38543373_38543376del | CA2584908082 | RYR1 | c.126_129del c.108_111del c.11716_11719del (p.Thr3906GlyfsTer?) c.11701_11704del (p.Thr3901GlyfsTer?) c.11698_11701del (p.Thr3900GlyfsTer?) c.325_328del c.5085_5088del c.11683_11686del (p.Thr3895GlyfsTer?) c.11713_11716del (p.Thr3905GlyfsTer?) | gnomAD v4 |
19 | g.38543370C>A | CA405661163 | RYR1 | c.123C>A c.105C>A c.11713C>A (p.Gln3905Lys) c.11698C>A (p.Gln3900Lys) c.11695C>A (p.Gln3899Lys) c.322C>A c.5082C>A c.11680C>A (p.Gln3894Lys) c.11710C>A (p.Gln3904Lys) | |
19 | g.38543370C>G | CA405661161 | RYR1 | c.123C>G c.105C>G c.11713C>G (p.Gln3905Glu) c.11698C>G (p.Gln3900Glu) c.11695C>G (p.Gln3899Glu) c.322C>G c.5082C>G c.11680C>G (p.Gln3894Glu) c.11710C>G (p.Gln3904Glu) | gnomAD v4 |
19 | g.38543370C>T | CA405661159 | RYR1 | c.123C>T c.105C>T c.11713C>T (p.Gln3905Ter) c.11698C>T (p.Gln3900Ter) c.11695C>T (p.Gln3899Ter) c.322C>T c.5082C>T c.11680C>T (p.Gln3894Ter) c.11710C>T (p.Gln3904Ter) | gnomAD v4 |
19 | g.38543371A>C | CA405661165 | RYR1 | c.124A>C c.106A>C c.11714A>C (p.Gln3905Pro) c.11699A>C (p.Gln3900Pro) c.11696A>C (p.Gln3899Pro) c.323A>C c.5083A>C c.11681A>C (p.Gln3894Pro) c.11711A>C (p.Gln3904Pro) | COSMIC |
19 | g.38543371A>G | CA405661167 | RYR1 | c.124A>G c.106A>G c.11714A>G (p.Gln3905Arg) c.11699A>G (p.Gln3900Arg) c.11696A>G (p.Gln3899Arg) c.323A>G c.5083A>G c.11681A>G (p.Gln3894Arg) c.11711A>G (p.Gln3904Arg) | |
19 | g.38543371A>T | CA405661169 | RYR1 | c.124A>T c.106A>T c.11714A>T (p.Gln3905Leu) c.11699A>T (p.Gln3900Leu) c.11696A>T (p.Gln3899Leu) c.323A>T c.5083A>T c.11681A>T (p.Gln3894Leu) c.11711A>T (p.Gln3904Leu) | |
19 | g.38543372G>A | CA308091978 | RYR1 | c.125G>A c.107G>A c.11715G>A (p.Gln3905=) c.11700G>A (p.Gln3900=) c.11697G>A (p.Gln3899=) c.324G>A c.5084G>A c.11682G>A (p.Gln3894=) c.11712G>A (p.Gln3904=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543372G>C | CA405661171 | RYR1 | c.125G>C c.107G>C c.11715G>C (p.Gln3905His) c.11700G>C (p.Gln3900His) c.11697G>C (p.Gln3899His) c.324G>C c.5084G>C c.11682G>C (p.Gln3894His) c.11712G>C (p.Gln3904His) | ClinVar |
19 | g.38543372G= | CA2335074311 | RYR1 | c.125G= c.107G= c.11715G= (p.Gln3905=) c.11700G= (p.Gln3900=) c.11697G= (p.Gln3899=) c.324G= c.5084G= c.11682G= (p.Gln3894=) c.11712G= (p.Gln3904=) | |
19 | g.38543372G>T | CA405661173 | RYR1 | c.125G>T c.107G>T c.11715G>T (p.Gln3905His) c.11700G>T (p.Gln3900His) c.11697G>T (p.Gln3899His) c.324G>T c.5084G>T c.11682G>T (p.Gln3894His) c.11712G>T (p.Gln3904His) | COSMIC |
19 | g.38543373A= | CA2335074312 | RYR1 | c.126A= c.108A= c.11716A= (p.Thr3906=) c.11701A= (p.Thr3901=) c.11698A= (p.Thr3900=) c.325A= c.5085A= c.11683A= (p.Thr3895=) c.11713A= (p.Thr3905=) | |
19 | g.38543373A>C | CA405661176 | RYR1 | c.126A>C c.108A>C c.11716A>C (p.Thr3906Pro) c.11701A>C (p.Thr3901Pro) c.11698A>C (p.Thr3900Pro) c.325A>C c.5085A>C c.11683A>C (p.Thr3895Pro) c.11713A>C (p.Thr3905Pro) | |
19 | g.38543373A>G | CA405661177 | RYR1 | c.126A>G c.108A>G c.11716A>G (p.Thr3906Ala) c.11701A>G (p.Thr3901Ala) c.11698A>G (p.Thr3900Ala) c.325A>G c.5085A>G c.11683A>G (p.Thr3895Ala) c.11713A>G (p.Thr3905Ala) | COSMIC |
19 | g.38543373A>T | CA405661179 | RYR1 | c.126A>T c.108A>T c.11716A>T (p.Thr3906Ser) c.11701A>T (p.Thr3901Ser) c.11698A>T (p.Thr3900Ser) c.325A>T c.5085A>T c.11683A>T (p.Thr3895Ser) c.11713A>T (p.Thr3905Ser) | ClinVar dbSNP gnomAD v4 |
19 | g.38543374C>A | CA405661182 | RYR1 | c.127C>A c.109C>A c.11717C>A (p.Thr3906Lys) c.11702C>A (p.Thr3901Lys) c.11699C>A (p.Thr3900Lys) c.326C>A c.5086C>A c.11684C>A (p.Thr3895Lys) c.11714C>A (p.Thr3905Lys) | |
19 | g.38543374C>G | CA405661183 | RYR1 | c.127C>G c.109C>G c.11717C>G (p.Thr3906Arg) c.11702C>G (p.Thr3901Arg) c.11699C>G (p.Thr3900Arg) c.326C>G c.5086C>G c.11684C>G (p.Thr3895Arg) c.11714C>G (p.Thr3905Arg) | |
19 | g.38543374C>T | CA405661185 | RYR1 | c.127C>T c.109C>T c.11717C>T (p.Thr3906Ile) c.11702C>T (p.Thr3901Ile) c.11699C>T (p.Thr3900Ile) c.326C>T c.5086C>T c.11684C>T (p.Thr3895Ile) c.11714C>T (p.Thr3905Ile) | gnomAD v4 COSMIC |
19 | g.38543375A>C | CA507354609 | RYR1 | c.128A>C c.110A>C c.11718A>C (p.Thr3906=) c.11703A>C (p.Thr3901=) c.11700A>C (p.Thr3900=) c.327A>C c.5087A>C c.11685A>C (p.Thr3895=) c.11715A>C (p.Thr3905=) | |
19 | g.38543375A>G | CA507354610 | RYR1 | c.128A>G c.110A>G c.11718A>G (p.Thr3906=) c.11703A>G (p.Thr3901=) c.11700A>G (p.Thr3900=) c.327A>G c.5087A>G c.11685A>G (p.Thr3895=) c.11715A>G (p.Thr3905=) | gnomAD v4 |
19 | g.38543375A>T | CA507354611 | RYR1 | c.128A>T c.110A>T c.11718A>T (p.Thr3906=) c.11703A>T (p.Thr3901=) c.11700A>T (p.Thr3900=) c.327A>T c.5087A>T c.11685A>T (p.Thr3895=) c.11715A>T (p.Thr3905=) | |
19 | g.38543376G>A | CA080389 | RYR1 | c.129G>A c.111G>A c.11719G>A (p.Gly3907Arg) c.11704G>A (p.Gly3902Arg) c.11701G>A (p.Gly3901Arg) c.328G>A c.5088G>A c.11686G>A (p.Gly3896Arg) c.11716G>A (p.Gly3906Arg) | |
19 | g.38543376G>C | CA405661188 | RYR1 | c.129G>C c.111G>C c.11719G>C (p.Gly3907Arg) c.11704G>C (p.Gly3902Arg) c.11701G>C (p.Gly3901Arg) c.328G>C c.5088G>C c.11686G>C (p.Gly3896Arg) c.11716G>C (p.Gly3906Arg) | |
19 | g.38543376G>T | CA405661189 | RYR1 | c.129G>T c.111G>T c.11719G>T (p.Gly3907Trp) c.11704G>T (p.Gly3902Trp) c.11701G>T (p.Gly3901Trp) c.328G>T c.5088G>T c.11686G>T (p.Gly3896Trp) c.11716G>T (p.Gly3906Trp) | |
19 | g.38543377G>A | CA405661193 | RYR1 | c.130G>A c.112G>A c.11720G>A (p.Gly3907Glu) c.11705G>A (p.Gly3902Glu) c.11702G>A (p.Gly3901Glu) c.329G>A c.5089G>A c.11687G>A (p.Gly3896Glu) c.11717G>A (p.Gly3906Glu) | |
19 | g.38543377G>C | CA405661194 | RYR1 | c.130G>C c.112G>C c.11720G>C (p.Gly3907Ala) c.11705G>C (p.Gly3902Ala) c.11702G>C (p.Gly3901Ala) c.329G>C c.5089G>C c.11687G>C (p.Gly3896Ala) c.11717G>C (p.Gly3906Ala) | |
19 | g.38543377G>T | CA405661191 | RYR1 | c.130G>T c.112G>T c.11720G>T (p.Gly3907Val) c.11705G>T (p.Gly3902Val) c.11702G>T (p.Gly3901Val) c.329G>T c.5089G>T c.11687G>T (p.Gly3896Val) c.11717G>T (p.Gly3906Val) | |
19 | g.38543378G>A | CA507354613 | RYR1 | c.131G>A c.113G>A c.11721G>A (p.Gly3907=) c.11706G>A (p.Gly3902=) c.11703G>A (p.Gly3901=) c.330G>A c.5090G>A c.11688G>A (p.Gly3896=) c.11718G>A (p.Gly3906=) | |
19 | g.38543378G>C | CA507354615 | RYR1 | c.131G>C c.113G>C c.11721G>C (p.Gly3907=) c.11706G>C (p.Gly3902=) c.11703G>C (p.Gly3901=) c.330G>C c.5090G>C c.11688G>C (p.Gly3896=) c.11718G>C (p.Gly3906=) | |
19 | g.38543378G>T | CA507354614 | RYR1 | c.131G>T c.113G>T c.11721G>T (p.Gly3907=) c.11706G>T (p.Gly3902=) c.11703G>T (p.Gly3901=) c.330G>T c.5090G>T c.11688G>T (p.Gly3896=) c.11718G>T (p.Gly3906=) | |
19 | g.38543379A>C | CA405661196 | RYR1 | c.132A>C c.114A>C c.11722A>C (p.Asn3908His) c.11707A>C (p.Asn3903His) c.11704A>C (p.Asn3902His) c.331A>C c.5091A>C c.11689A>C (p.Asn3897His) c.11719A>C (p.Asn3907His) | |
19 | g.38543379A>G | CA405661198 | RYR1 | c.132A>G c.114A>G c.11722A>G (p.Asn3908Asp) c.11707A>G (p.Asn3903Asp) c.11704A>G (p.Asn3902Asp) c.331A>G c.5091A>G c.11689A>G (p.Asn3897Asp) c.11719A>G (p.Asn3907Asp) | |
19 | g.38543379A>T | CA405661200 | RYR1 | c.132A>T c.114A>T c.11722A>T (p.Asn3908Tyr) c.11707A>T (p.Asn3903Tyr) c.11704A>T (p.Asn3902Tyr) c.331A>T c.5091A>T c.11689A>T (p.Asn3897Tyr) c.11719A>T (p.Asn3907Tyr) | |
19 | g.38543380A= | CA2335074313 | RYR1 | c.133A= c.115A= c.11723A= (p.Asn3908=) c.11708A= (p.Asn3903=) c.11705A= (p.Asn3902=) c.332A= c.5092A= c.11690A= (p.Asn3897=) c.11720A= (p.Asn3907=) | |
19 | g.38543380A>C | CA405661201 | RYR1 | c.133A>C c.115A>C c.11723A>C (p.Asn3908Thr) c.11708A>C (p.Asn3903Thr) c.11705A>C (p.Asn3902Thr) c.332A>C c.5092A>C c.11690A>C (p.Asn3897Thr) c.11720A>C (p.Asn3907Thr) | |
19 | g.38543380A>G | CA057545 | RYR1 | c.133A>G c.115A>G c.11723A>G (p.Asn3908Ser) c.11708A>G (p.Asn3903Ser) c.11705A>G (p.Asn3902Ser) c.332A>G c.5092A>G c.11690A>G (p.Asn3897Ser) c.11720A>G (p.Asn3907Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543380A>T | CA405661203 | RYR1 | c.133A>T c.115A>T c.11723A>T (p.Asn3908Ile) c.11708A>T (p.Asn3903Ile) c.11705A>T (p.Asn3902Ile) c.332A>T c.5092A>T c.11690A>T (p.Asn3897Ile) c.11720A>T (p.Asn3907Ile) | ClinVar dbSNP gnomAD v4 |
19 | g.38543381C>A | CA405661204 | RYR1 | c.134C>A c.116C>A c.11724C>A (p.Asn3908Lys) c.11709C>A (p.Asn3903Lys) c.11706C>A (p.Asn3902Lys) c.333C>A c.5093C>A c.11691C>A (p.Asn3897Lys) c.11721C>A (p.Asn3907Lys) | |
19 | g.38543381C= | CA2335074314 | RYR1 | c.134C= c.116C= c.11724C= (p.Asn3908=) c.11709C= (p.Asn3903=) c.11706C= (p.Asn3902=) c.333C= c.5093C= c.11691C= (p.Asn3897=) c.11721C= (p.Asn3907=) | |
19 | g.38543381C>G | CA405661206 | RYR1 | c.134C>G c.116C>G c.11724C>G (p.Asn3908Lys) c.11709C>G (p.Asn3903Lys) c.11706C>G (p.Asn3902Lys) c.333C>G c.5093C>G c.11691C>G (p.Asn3897Lys) c.11721C>G (p.Asn3907Lys) | |
19 | g.38543381C>T | CA308091985 | RYR1 | c.134C>T c.116C>T c.11724C>T (p.Asn3908=) c.11709C>T (p.Asn3903=) c.11706C>T (p.Asn3902=) c.333C>T c.5093C>T c.11691C>T (p.Asn3897=) c.11721C>T (p.Asn3907=) | dbSNP gnomAD v4 |
19 | g.38543382A>C | CA405661207 | RYR1 | c.135A>C c.117A>C c.11725A>C (p.Thr3909Pro) c.11710A>C (p.Thr3904Pro) c.11707A>C (p.Thr3903Pro) c.334A>C c.5094A>C c.11692A>C (p.Thr3898Pro) c.11722A>C (p.Thr3908Pro) | gnomAD v4 |
19 | g.38543382A>G | CA405661208 | RYR1 | c.135A>G c.117A>G c.11725A>G (p.Thr3909Ala) c.11710A>G (p.Thr3904Ala) c.11707A>G (p.Thr3903Ala) c.334A>G c.5094A>G c.11692A>G (p.Thr3898Ala) c.11722A>G (p.Thr3908Ala) | |
19 | g.38543382A>T | CA405661210 | RYR1 | c.135A>T c.117A>T c.11725A>T (p.Thr3909Ser) c.11710A>T (p.Thr3904Ser) c.11707A>T (p.Thr3903Ser) c.334A>T c.5094A>T c.11692A>T (p.Thr3898Ser) c.11722A>T (p.Thr3908Ser) | |
19 | g.38543383C>A | CA405661214 | RYR1 | c.136C>A c.118C>A c.11726C>A (p.Thr3909Lys) c.11711C>A (p.Thr3904Lys) c.11708C>A (p.Thr3903Lys) c.335C>A c.5095C>A c.11693C>A (p.Thr3898Lys) c.11723C>A (p.Thr3908Lys) | COSMIC |
19 | g.38543383C= | CA2335074315 | RYR1 | c.136C= c.118C= c.11726C= (p.Thr3909=) c.11711C= (p.Thr3904=) c.11708C= (p.Thr3903=) c.335C= c.5095C= c.11693C= (p.Thr3898=) c.11723C= (p.Thr3908=) | |
19 | g.38543383C>G | CA405661212 | RYR1 | c.136C>G c.118C>G c.11726C>G (p.Thr3909Arg) c.11711C>G (p.Thr3904Arg) c.11708C>G (p.Thr3903Arg) c.335C>G c.5095C>G c.11693C>G (p.Thr3898Arg) c.11723C>G (p.Thr3908Arg) | gnomAD v4 |
19 | g.38543383C>T | CA057550 | RYR1 | c.136C>T c.118C>T c.11726C>T (p.Thr3909Met) c.11711C>T (p.Thr3904Met) c.11708C>T (p.Thr3903Met) c.335C>T c.5095C>T c.11693C>T (p.Thr3898Met) c.11723C>T (p.Thr3908Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543384G>A | CA057557 | RYR1 | c.137G>A c.119G>A c.11727G>A (p.Thr3909=) c.11712G>A (p.Thr3904=) c.11709G>A (p.Thr3903=) c.336G>A c.5096G>A c.11694G>A (p.Thr3898=) c.11724G>A (p.Thr3908=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543384G>C | CA507354623 | RYR1 | c.137G>C c.119G>C c.11727G>C (p.Thr3909=) c.11712G>C (p.Thr3904=) c.11709G>C (p.Thr3903=) c.336G>C c.5096G>C c.11694G>C (p.Thr3898=) c.11724G>C (p.Thr3908=) | |
19 | g.38543384G= | CA2335074316 | RYR1 | c.137G= c.119G= c.11727G= (p.Thr3909=) c.11712G= (p.Thr3904=) c.11709G= (p.Thr3903=) c.336G= c.5096G= c.11694G= (p.Thr3898=) c.11724G= (p.Thr3908=) | |
19 | g.38543384G>T | CA080391 | RYR1 | c.137G>T c.119G>T c.11727G>T (p.Thr3909=) c.11712G>T (p.Thr3904=) c.11709G>T (p.Thr3903=) c.336G>T c.5096G>T c.11694G>T (p.Thr3898=) c.11724G>T (p.Thr3908=) | gnomAD v4 |
19 | g.38543385A>C | CA080392 | RYR1 | c.138A>C c.120A>C c.11728A>C (p.Thr3910Pro) c.11713A>C (p.Thr3905Pro) c.11710A>C (p.Thr3904Pro) c.337A>C c.5097A>C c.11695A>C (p.Thr3899Pro) c.11725A>C (p.Thr3909Pro) | |
19 | g.38543385A>G | CA405661218 | RYR1 | c.138A>G c.120A>G c.11728A>G (p.Thr3910Ala) c.11713A>G (p.Thr3905Ala) c.11710A>G (p.Thr3904Ala) c.337A>G c.5097A>G c.11695A>G (p.Thr3899Ala) c.11725A>G (p.Thr3909Ala) | |
19 | g.38543385A>T | CA405661220 | RYR1 | c.138A>T c.120A>T c.11728A>T (p.Thr3910Ser) c.11713A>T (p.Thr3905Ser) c.11710A>T (p.Thr3904Ser) c.337A>T c.5097A>T c.11695A>T (p.Thr3899Ser) c.11725A>T (p.Thr3909Ser) | |
19 | g.38543386C>A | CA405661222 | RYR1 | c.139C>A c.121C>A c.11729C>A (p.Thr3910Asn) c.11714C>A (p.Thr3905Asn) c.11711C>A (p.Thr3904Asn) c.338C>A c.5098C>A c.11696C>A (p.Thr3899Asn) c.11726C>A (p.Thr3909Asn) | |
19 | g.38543386C>G | CA405661224 | RYR1 | c.139C>G c.121C>G c.11729C>G (p.Thr3910Ser) c.11714C>G (p.Thr3905Ser) c.11711C>G (p.Thr3904Ser) c.338C>G c.5098C>G c.11696C>G (p.Thr3899Ser) c.11726C>G (p.Thr3909Ser) | |
19 | g.38543386C>T | CA080414 | RYR1 | c.139C>T c.121C>T c.11729C>T (p.Thr3910Ile) c.11714C>T (p.Thr3905Ile) c.11711C>T (p.Thr3904Ile) c.338C>T c.5098C>T c.11696C>T (p.Thr3899Ile) c.11726C>T (p.Thr3909Ile) | |
19 | g.38543387C>A | CA507354629 | RYR1 | c.140C>A c.122C>A c.11730C>A (p.Thr3910=) c.11715C>A (p.Thr3905=) c.11712C>A (p.Thr3904=) c.339C>A c.5099C>A c.11697C>A (p.Thr3899=) c.11727C>A (p.Thr3909=) | |
19 | g.38543387C= | CA2335074317 | RYR1 | c.140C= c.122C= c.11730C= (p.Thr3910=) c.11715C= (p.Thr3905=) c.11712C= (p.Thr3904=) c.339C= c.5099C= c.11697C= (p.Thr3899=) c.11727C= (p.Thr3909=) | |
19 | g.38543387C>G | CA507354628 | RYR1 | c.140C>G c.122C>G c.11730C>G (p.Thr3910=) c.11715C>G (p.Thr3905=) c.11712C>G (p.Thr3904=) c.339C>G c.5099C>G c.11697C>G (p.Thr3899=) c.11727C>G (p.Thr3909=) | ClinVar |
19 | g.38543387C>T | CA507354627 | RYR1 | c.140C>T c.122C>T c.11730C>T (p.Thr3910=) c.11715C>T (p.Thr3905=) c.11712C>T (p.Thr3904=) c.339C>T c.5099C>T c.11697C>T (p.Thr3899=) c.11727C>T (p.Thr3909=) | dbSNP |
19 | g.38543388A= | CA2335074318 | RYR1 | c.141A= c.123A= c.11731A= (p.Thr3911=) c.11716A= (p.Thr3906=) c.11713A= (p.Thr3905=) c.340A= c.5100A= c.11698A= (p.Thr3900=) c.11728A= (p.Thr3910=) | |
19 | g.38543388A>C | CA405661226 | RYR1 | c.141A>C c.123A>C c.11731A>C (p.Thr3911Pro) c.11716A>C (p.Thr3906Pro) c.11713A>C (p.Thr3905Pro) c.340A>C c.5100A>C c.11698A>C (p.Thr3900Pro) c.11728A>C (p.Thr3910Pro) | gnomAD v4 |
19 | g.38543388A>G | CA057560 | RYR1 | c.141A>G c.123A>G c.11731A>G (p.Thr3911Ala) c.11716A>G (p.Thr3906Ala) c.11713A>G (p.Thr3905Ala) c.340A>G c.5100A>G c.11698A>G (p.Thr3900Ala) c.11728A>G (p.Thr3910Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543388A>T | CA405661228 | RYR1 | c.141A>T c.123A>T c.11731A>T (p.Thr3911Ser) c.11716A>T (p.Thr3906Ser) c.11713A>T (p.Thr3905Ser) c.340A>T c.5100A>T c.11698A>T (p.Thr3900Ser) c.11728A>T (p.Thr3910Ser) | |
19 | g.38543389C>A | CA405661231 | RYR1 | c.142C>A c.124C>A c.11732C>A (p.Thr3911Asn) c.11717C>A (p.Thr3906Asn) c.11714C>A (p.Thr3905Asn) c.341C>A c.5101C>A c.11699C>A (p.Thr3900Asn) c.11729C>A (p.Thr3910Asn) | |
19 | g.38543389C>G | CA405661233 | RYR1 | c.142C>G c.124C>G c.11732C>G (p.Thr3911Ser) c.11717C>G (p.Thr3906Ser) c.11714C>G (p.Thr3905Ser) c.341C>G c.5101C>G c.11699C>G (p.Thr3900Ser) c.11729C>G (p.Thr3910Ser) | |
19 | g.38543389C>T | CA405661235 | RYR1 | c.142C>T c.124C>T c.11732C>T (p.Thr3911Ile) c.11717C>T (p.Thr3906Ile) c.11714C>T (p.Thr3905Ile) c.341C>T c.5101C>T c.11699C>T (p.Thr3900Ile) c.11729C>T (p.Thr3910Ile) | COSMIC |
19 | g.38543390T>A | CA507354630 | RYR1 | c.143T>A c.125T>A c.11733T>A (p.Thr3911=) c.11718T>A (p.Thr3906=) c.11715T>A (p.Thr3905=) c.342T>A c.5102T>A c.11700T>A (p.Thr3900=) c.11730T>A (p.Thr3910=) | |
19 | g.38543390T>C | CA507354632 | RYR1 | c.143T>C c.125T>C c.11733T>C (p.Thr3911=) c.11718T>C (p.Thr3906=) c.11715T>C (p.Thr3905=) c.342T>C c.5102T>C c.11700T>C (p.Thr3900=) c.11730T>C (p.Thr3910=) | |
19 | g.38543390T>G | CA507354633 | RYR1 | c.143T>G c.125T>G c.11733T>G (p.Thr3911=) c.11718T>G (p.Thr3906=) c.11715T>G (p.Thr3905=) c.342T>G c.5102T>G c.11700T>G (p.Thr3900=) c.11730T>G (p.Thr3910=) | gnomAD v4 |
19 | g.38543391A= | CA2335074320 | RYR1 | c.144A= c.126A= c.11734A= (p.Ile3912=) c.11719A= (p.Ile3907=) c.11716A= (p.Ile3906=) c.343A= c.5103A= c.11701A= (p.Ile3901=) c.11731A= (p.Ile3911=) | |
19 | g.38543391A>C | CA405661239 | RYR1 | c.144A>C c.126A>C c.11734A>C (p.Ile3912Leu) c.11719A>C (p.Ile3907Leu) c.11716A>C (p.Ile3906Leu) c.343A>C c.5103A>C c.11701A>C (p.Ile3901Leu) c.11731A>C (p.Ile3911Leu) | |
19 | g.38543391A>G | CA080416 | RYR1 | c.144A>G c.126A>G c.11734A>G (p.Ile3912Val) c.11719A>G (p.Ile3907Val) c.11716A>G (p.Ile3906Val) c.343A>G c.5103A>G c.11701A>G (p.Ile3901Val) c.11731A>G (p.Ile3911Val) | dbSNP gnomAD v4 |
19 | g.38543391A>T | CA405661237 | RYR1 | c.144A>T c.126A>T c.11734A>T (p.Ile3912Phe) c.11719A>T (p.Ile3907Phe) c.11716A>T (p.Ile3906Phe) c.343A>T c.5103A>T c.11701A>T (p.Ile3901Phe) c.11731A>T (p.Ile3911Phe) | |
19 | g.38543391_38543392delinsAT | CA2335074319 | RYR1 | c.144_145delinsAT c.126_127delinsAT c.11734_11735delinsAT (p.Ile3912=) c.11719_11720delinsAT (p.Ile3907=) c.11716_11717delinsAT (p.Ile3906=) c.343_344delinsAT c.5103_5104delinsAT c.11701_11702delinsAT (p.Ile3901=) c.11731_11732delinsAT (p.Ile3911=) | |
19 | g.38543392T>A | CA10652420 | RYR1 | c.145T>A c.127T>A c.11735T>A (p.Ile3912Asn) c.11720T>A (p.Ile3907Asn) c.11717T>A (p.Ile3906Asn) c.344T>A c.5104T>A c.11702T>A (p.Ile3901Asn) c.11732T>A (p.Ile3911Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38543392T>C | CA405661242 | RYR1 | c.145T>C c.127T>C c.11735T>C (p.Ile3912Thr) c.11720T>C (p.Ile3907Thr) c.11717T>C (p.Ile3906Thr) c.344T>C c.5104T>C c.11702T>C (p.Ile3901Thr) c.11732T>C (p.Ile3911Thr) | |
19 | g.38543392T>G | CA405661244 | RYR1 | c.145T>G c.127T>G c.11735T>G (p.Ile3912Ser) c.11720T>G (p.Ile3907Ser) c.11717T>G (p.Ile3906Ser) c.344T>G c.5104T>G c.11702T>G (p.Ile3901Ser) c.11732T>G (p.Ile3911Ser) | |
19 | g.38543392T= | CA2335074321 | RYR1 | c.145T= c.127T= c.11735T= (p.Ile3912=) c.11720T= (p.Ile3907=) c.11717T= (p.Ile3906=) c.344T= c.5104T= c.11702T= (p.Ile3901=) c.11732T= (p.Ile3911=) | |
19 | g.38543393del | CA633066749 | RYR1 | c.146del c.128del c.11736del (p.Asn3913ThrfsTer?) c.11721del (p.Asn3908ThrfsTer?) c.11718del (p.Asn3907ThrfsTer?) c.345del c.5105del c.11703del (p.Asn3902ThrfsTer?) c.11733del (p.Asn3912ThrfsTer?) | dbSNP gnomAD v2 |
19 | g.38543393T>A | CA507354635 | RYR1 | c.146T>A c.128T>A c.11736T>A (p.Ile3912=) c.11721T>A (p.Ile3907=) c.11718T>A (p.Ile3906=) c.345T>A c.5105T>A c.11703T>A (p.Ile3901=) c.11733T>A (p.Ile3911=) | |
19 | g.38543393T>C | CA507354636 | RYR1 | c.146T>C c.128T>C c.11736T>C (p.Ile3912=) c.11721T>C (p.Ile3907=) c.11718T>C (p.Ile3906=) c.345T>C c.5105T>C c.11703T>C (p.Ile3901=) c.11733T>C (p.Ile3911=) | |
19 | g.38543393T>G | CA405661247 | RYR1 | c.146T>G c.128T>G c.11736T>G (p.Ile3912Met) c.11721T>G (p.Ile3907Met) c.11718T>G (p.Ile3906Met) c.345T>G c.5105T>G c.11703T>G (p.Ile3901Met) c.11733T>G (p.Ile3911Met) | |
19 | g.38543394A>C | CA405661249 | RYR1 | c.147A>C c.129A>C c.11737A>C (p.Asn3913His) c.11722A>C (p.Asn3908His) c.11719A>C (p.Asn3907His) c.346A>C c.5106A>C c.11704A>C (p.Asn3902His) c.11734A>C (p.Asn3912His) | |
19 | g.38543394A>G | CA405661253 | RYR1 | c.147A>G c.129A>G c.11737A>G (p.Asn3913Asp) c.11722A>G (p.Asn3908Asp) c.11719A>G (p.Asn3907Asp) c.346A>G c.5106A>G c.11704A>G (p.Asn3902Asp) c.11734A>G (p.Asn3912Asp) | |
19 | g.38543394A>T | CA405661256 | RYR1 | c.147A>T c.129A>T c.11737A>T (p.Asn3913Tyr) c.11722A>T (p.Asn3908Tyr) c.11719A>T (p.Asn3907Tyr) c.346A>T c.5106A>T c.11704A>T (p.Asn3902Tyr) c.11734A>T (p.Asn3912Tyr) | |
19 | g.38543395A>C | CA405661259 | RYR1 | c.148A>C c.130A>C c.11738A>C (p.Asn3913Thr) c.11723A>C (p.Asn3908Thr) c.11720A>C (p.Asn3907Thr) c.347A>C c.5107A>C c.11705A>C (p.Asn3902Thr) c.11735A>C (p.Asn3912Thr) | |
19 | g.38543395A>G | CA405661260 | RYR1 | c.148A>G c.130A>G c.11738A>G (p.Asn3913Ser) c.11723A>G (p.Asn3908Ser) c.11720A>G (p.Asn3907Ser) c.347A>G c.5107A>G c.11705A>G (p.Asn3902Ser) c.11735A>G (p.Asn3912Ser) | |
19 | g.38543395A>T | CA405661261 | RYR1 | c.148A>T c.130A>T c.11738A>T (p.Asn3913Ile) c.11723A>T (p.Asn3908Ile) c.11720A>T (p.Asn3907Ile) c.347A>T c.5107A>T c.11705A>T (p.Asn3902Ile) c.11735A>T (p.Asn3912Ile) | |
19 | g.38543395_38543398delinsACAT | CA2335074322 | RYR1 | c.148_151delinsACAT c.130_133delinsACAT c.11738_11741delinsACAT (p.Asn3913=) c.11723_11726delinsACAT (p.Asn3908=) c.11720_11723delinsACAT (p.Asn3907=) c.347_350delinsACAT c.5107_5110delinsACAT c.11705_11708delinsACAT (p.Asn3902=) c.11735_11738delinsACAT (p.Asn3912=) | |
19 | g.38543396C>A | CA405661262 | RYR1 | c.149C>A c.131C>A c.11739C>A (p.Asn3913Lys) c.11724C>A (p.Asn3908Lys) c.11721C>A (p.Asn3907Lys) c.348C>A c.5108C>A c.11706C>A (p.Asn3902Lys) c.11736C>A (p.Asn3912Lys) | |
19 | g.38543396C= | CA2335074324 | RYR1 | c.149C= c.131C= c.11739C= (p.Asn3913=) c.11724C= (p.Asn3908=) c.11721C= (p.Asn3907=) c.348C= c.5108C= c.11706C= (p.Asn3902=) c.11736C= (p.Asn3912=) | |
19 | g.38543396C>G | CA405661263 | RYR1 | c.149C>G c.131C>G c.11739C>G (p.Asn3913Lys) c.11724C>G (p.Asn3908Lys) c.11721C>G (p.Asn3907Lys) c.348C>G c.5108C>G c.11706C>G (p.Asn3902Lys) c.11736C>G (p.Asn3912Lys) | |
19 | g.38543396C>T | CA057572 | RYR1 | c.149C>T c.131C>T c.11739C>T (p.Asn3913=) c.11724C>T (p.Asn3908=) c.11721C>T (p.Asn3907=) c.348C>T c.5108C>T c.11706C>T (p.Asn3902=) c.11736C>T (p.Asn3912=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543402_38543404del | CA2335074323 | RYR1 | c.155_157del c.137_139del c.11745_11747del (p.Ile3916del) c.11730_11732del (p.Ile3911del) c.11727_11729del (p.Ile3910del) c.354_356del c.5114_5116del c.11712_11714del (p.Ile3905del) c.11742_11744del (p.Ile3915del) | dbSNP gnomAD v4 |
19 | g.38543397A>C | CA405661264 | RYR1 | c.150A>C c.132A>C c.11740A>C (p.Ile3914Leu) c.11725A>C (p.Ile3909Leu) c.11722A>C (p.Ile3908Leu) c.349A>C c.5109A>C c.11707A>C (p.Ile3903Leu) c.11737A>C (p.Ile3913Leu) | |
19 | g.38543397A>G | CA405661265 | RYR1 | c.150A>G c.132A>G c.11740A>G (p.Ile3914Val) c.11725A>G (p.Ile3909Val) c.11722A>G (p.Ile3908Val) c.349A>G c.5109A>G c.11707A>G (p.Ile3903Val) c.11737A>G (p.Ile3913Val) | |
19 | g.38543397A>T | CA405661266 | RYR1 | c.150A>T c.132A>T c.11740A>T (p.Ile3914Phe) c.11725A>T (p.Ile3909Phe) c.11722A>T (p.Ile3908Phe) c.349A>T c.5109A>T c.11707A>T (p.Ile3903Phe) c.11737A>T (p.Ile3913Phe) | |
19 | g.38543398T>A | CA405661270 | RYR1 | c.151T>A c.133T>A c.11741T>A (p.Ile3914Asn) c.11726T>A (p.Ile3909Asn) c.11723T>A (p.Ile3908Asn) c.350T>A c.5110T>A c.11708T>A (p.Ile3903Asn) c.11738T>A (p.Ile3913Asn) | |
19 | g.38543398T>C | CA405661272 | RYR1 | c.151T>C c.133T>C c.11741T>C (p.Ile3914Thr) c.11726T>C (p.Ile3909Thr) c.11723T>C (p.Ile3908Thr) c.350T>C c.5110T>C c.11708T>C (p.Ile3903Thr) c.11738T>C (p.Ile3913Thr) | gnomAD v4 |
19 | g.38543398T>G | CA405661269 | RYR1 | c.151T>G c.133T>G c.11741T>G (p.Ile3914Ser) c.11726T>G (p.Ile3909Ser) c.11723T>G (p.Ile3908Ser) c.350T>G c.5110T>G c.11708T>G (p.Ile3903Ser) c.11738T>G (p.Ile3913Ser) | |
19 | g.38543399C>A | CA507354640 | RYR1 | c.152C>A c.134C>A c.11742C>A (p.Ile3914=) c.11727C>A (p.Ile3909=) c.11724C>A (p.Ile3908=) c.351C>A c.5111C>A c.11709C>A (p.Ile3903=) c.11739C>A (p.Ile3913=) | |
19 | g.38543399C= | CA2335074325 | RYR1 | c.152C= c.134C= c.11742C= (p.Ile3914=) c.11727C= (p.Ile3909=) c.11724C= (p.Ile3908=) c.351C= c.5111C= c.11709C= (p.Ile3903=) c.11739C= (p.Ile3913=) | |
19 | g.38543399C>G | CA405661275 | RYR1 | c.152C>G c.134C>G c.11742C>G (p.Ile3914Met) c.11727C>G (p.Ile3909Met) c.11724C>G (p.Ile3908Met) c.351C>G c.5111C>G c.11709C>G (p.Ile3903Met) c.11739C>G (p.Ile3913Met) | ClinVar gnomAD v4 |
19 | g.38543399C>T | CA080417 | RYR1 | c.152C>T c.134C>T c.11742C>T (p.Ile3914=) c.11727C>T (p.Ile3909=) c.11724C>T (p.Ile3908=) c.351C>T c.5111C>T c.11709C>T (p.Ile3903=) c.11739C>T (p.Ile3913=) | dbSNP |
19 | g.38543400A>C | CA405661278 | RYR1 | c.153A>C c.135A>C c.11743A>C (p.Ile3915Leu) c.11728A>C (p.Ile3910Leu) c.11725A>C (p.Ile3909Leu) c.352A>C c.5112A>C c.11710A>C (p.Ile3904Leu) c.11740A>C (p.Ile3914Leu) | |
19 | g.38543400A>G | CA405661280 | RYR1 | c.153A>G c.135A>G c.11743A>G (p.Ile3915Val) c.11728A>G (p.Ile3910Val) c.11725A>G (p.Ile3909Val) c.352A>G c.5112A>G c.11710A>G (p.Ile3904Val) c.11740A>G (p.Ile3914Val) | |
19 | g.38543400A>T | CA405661282 | RYR1 | c.153A>T c.135A>T c.11743A>T (p.Ile3915Phe) c.11728A>T (p.Ile3910Phe) c.11725A>T (p.Ile3909Phe) c.352A>T c.5112A>T c.11710A>T (p.Ile3904Phe) c.11740A>T (p.Ile3914Phe) | |
19 | g.38543400_38543401delinsAT | CA2335074326 | RYR1 | c.153_154delinsAT c.135_136delinsAT c.11743_11744delinsAT (p.Ile3915=) c.11728_11729delinsAT (p.Ile3910=) c.11725_11726delinsAT (p.Ile3909=) c.352_353delinsAT c.5112_5113delinsAT c.11710_11711delinsAT (p.Ile3904=) c.11740_11741delinsAT (p.Ile3914=) | |
19 | g.38543401del | CA633066750 | RYR1 | c.154del c.136del c.11744del (p.Ile3915ThrfsTer?) c.11729del (p.Ile3910ThrfsTer?) c.11726del (p.Ile3909ThrfsTer?) c.353del c.5113del c.11711del (p.Ile3904ThrfsTer?) c.11741del (p.Ile3914ThrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38543401T>A | CA405661288 | RYR1 | c.154T>A c.136T>A c.11744T>A (p.Ile3915Asn) c.11729T>A (p.Ile3910Asn) c.11726T>A (p.Ile3909Asn) c.353T>A c.5113T>A c.11711T>A (p.Ile3904Asn) c.11741T>A (p.Ile3914Asn) | |
19 | g.38543401T>C | CA405661286 | RYR1 | c.154T>C c.136T>C c.11744T>C (p.Ile3915Thr) c.11729T>C (p.Ile3910Thr) c.11726T>C (p.Ile3909Thr) c.353T>C c.5113T>C c.11711T>C (p.Ile3904Thr) c.11741T>C (p.Ile3914Thr) | |
19 | g.38543401T>G | CA405661284 | RYR1 | c.154T>G c.136T>G c.11744T>G (p.Ile3915Ser) c.11729T>G (p.Ile3910Ser) c.11726T>G (p.Ile3909Ser) c.353T>G c.5113T>G c.11711T>G (p.Ile3904Ser) c.11741T>G (p.Ile3914Ser) | |
19 | g.38543402C>A | CA507354642 | RYR1 | c.155C>A c.137C>A c.11745C>A (p.Ile3915=) c.11730C>A (p.Ile3910=) c.11727C>A (p.Ile3909=) c.354C>A c.5114C>A c.11712C>A (p.Ile3904=) c.11742C>A (p.Ile3914=) | dbSNP |
19 | g.38543402C= | CA2335074328 | RYR1 | c.155C= c.137C= c.11745C= (p.Ile3915=) c.11730C= (p.Ile3910=) c.11727C= (p.Ile3909=) c.354C= c.5114C= c.11712C= (p.Ile3904=) c.11742C= (p.Ile3914=) | |
19 | g.38543402C>G | CA405661290 | RYR1 | c.155C>G c.137C>G c.11745C>G (p.Ile3915Met) c.11730C>G (p.Ile3910Met) c.11727C>G (p.Ile3909Met) c.354C>G c.5114C>G c.11712C>G (p.Ile3904Met) c.11742C>G (p.Ile3914Met) | |
19 | g.38543402C>T | CA507354644 | RYR1 | c.155C>T c.137C>T c.11745C>T (p.Ile3915=) c.11730C>T (p.Ile3910=) c.11727C>T (p.Ile3909=) c.354C>T c.5114C>T c.11712C>T (p.Ile3904=) c.11742C>T (p.Ile3914=) | |
19 | g.38543402_38543405delinsCATT | CA2335074327 | RYR1 | c.155_158delinsCATT c.137_140delinsCATT c.11745_11748delinsCATT (p.Ile3915=) c.11730_11733delinsCATT (p.Ile3910=) c.11727_11730delinsCATT (p.Ile3909=) c.354_357delinsCATT c.5114_5117delinsCATT c.11712_11715delinsCATT (p.Ile3904=) c.11742_11745delinsCATT (p.Ile3914=) | |
19 | g.38543403A= | CA2335074329 | RYR1 | c.156A= c.138A= c.11746A= (p.Ile3916=) c.11731A= (p.Ile3911=) c.11728A= (p.Ile3910=) c.355A= c.5115A= c.11713A= (p.Ile3905=) c.11743A= (p.Ile3915=) | |
19 | g.38543403A>C | CA405661293 | RYR1 | c.156A>C c.138A>C c.11746A>C (p.Ile3916Leu) c.11731A>C (p.Ile3911Leu) c.11728A>C (p.Ile3910Leu) c.355A>C c.5115A>C c.11713A>C (p.Ile3905Leu) c.11743A>C (p.Ile3915Leu) | |
19 | g.38543403A>G | CA057583 | RYR1 | c.156A>G c.138A>G c.11746A>G (p.Ile3916Val) c.11731A>G (p.Ile3911Val) c.11728A>G (p.Ile3910Val) c.355A>G c.5115A>G c.11713A>G (p.Ile3905Val) c.11743A>G (p.Ile3915Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38543403A>T | CA405661297 | RYR1 | c.156A>T c.138A>T c.11746A>T (p.Ile3916Phe) c.11731A>T (p.Ile3911Phe) c.11728A>T (p.Ile3910Phe) c.355A>T c.5115A>T c.11713A>T (p.Ile3905Phe) c.11743A>T (p.Ile3915Phe) | |
19 | g.38543403_38543405del | CA633066751 | RYR1 | c.156_158del c.138_140del c.11746_11748del (p.Ile3916del) c.11731_11733del (p.Ile3911del) c.11728_11730del (p.Ile3910del) c.355_357del c.5115_5117del c.11713_11715del (p.Ile3905del) c.11743_11745del (p.Ile3915del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38543404T>A | CA405661299 | RYR1 | c.157T>A c.139T>A c.11747T>A (p.Ile3916Asn) c.11732T>A (p.Ile3911Asn) c.11729T>A (p.Ile3910Asn) c.356T>A c.5116T>A c.11714T>A (p.Ile3905Asn) c.11744T>A (p.Ile3915Asn) | |
19 | g.38543404T>C | CA405661301 | RYR1 | c.157T>C c.139T>C c.11747T>C (p.Ile3916Thr) c.11732T>C (p.Ile3911Thr) c.11729T>C (p.Ile3910Thr) c.356T>C c.5116T>C c.11714T>C (p.Ile3905Thr) c.11744T>C (p.Ile3915Thr) | |
19 | g.38543404T>G | CA405661303 | RYR1 | c.157T>G c.139T>G c.11747T>G (p.Ile3916Ser) c.11732T>G (p.Ile3911Ser) c.11729T>G (p.Ile3910Ser) c.356T>G c.5116T>G c.11714T>G (p.Ile3905Ser) c.11744T>G (p.Ile3915Ser) | |
19 | g.38543405T>A | CA507354647 | RYR1 | c.158T>A c.140T>A c.11748T>A (p.Ile3916=) c.11733T>A (p.Ile3911=) c.11730T>A (p.Ile3910=) c.357T>A c.5117T>A c.11715T>A (p.Ile3905=) c.11745T>A (p.Ile3915=) | |
19 | g.38543405T>C | CA507354648 | RYR1 | c.158T>C c.140T>C c.11748T>C (p.Ile3916=) c.11733T>C (p.Ile3911=) c.11730T>C (p.Ile3910=) c.357T>C c.5117T>C c.11715T>C (p.Ile3905=) c.11745T>C (p.Ile3915=) | |
19 | g.38543405T>G | CA023930 | RYR1 | c.158T>G c.140T>G c.11748T>G (p.Ile3916Met) c.11733T>G (p.Ile3911Met) c.11730T>G (p.Ile3910Met) c.357T>G c.5117T>G c.11715T>G (p.Ile3905Met) c.11745T>G (p.Ile3915Met) | ClinVar dbSNP gnomAD v4 |
19 | g.38543405T= | CA2335074330 | RYR1 | c.158T= c.140T= c.11748T= (p.Ile3916=) c.11733T= (p.Ile3911=) c.11730T= (p.Ile3910=) c.357T= c.5117T= c.11715T= (p.Ile3905=) c.11745T= (p.Ile3915=) | |
19 | g.38543406T>A | CA405661310 | RYR1 | c.159T>A c.141T>A c.11749T>A (p.Cys3917Ser) c.11734T>A (p.Cys3912Ser) c.11731T>A (p.Cys3911Ser) c.358T>A c.5118T>A c.11716T>A (p.Cys3906Ser) c.11746T>A (p.Cys3916Ser) | |
19 | g.38543406T>C | CA405661306 | RYR1 | c.159T>C c.141T>C c.11749T>C (p.Cys3917Arg) c.11734T>C (p.Cys3912Arg) c.11731T>C (p.Cys3911Arg) c.358T>C c.5118T>C c.11716T>C (p.Cys3906Arg) c.11746T>C (p.Cys3916Arg) | |
19 | g.38543406T>G | CA405661308 | RYR1 | c.159T>G c.141T>G c.11749T>G (p.Cys3917Gly) c.11734T>G (p.Cys3912Gly) c.11731T>G (p.Cys3911Gly) c.358T>G c.5118T>G c.11716T>G (p.Cys3906Gly) c.11746T>G (p.Cys3916Gly) | |
19 | g.38543407G>A | CA405661312 | RYR1 | c.160G>A c.142G>A c.11750G>A (p.Cys3917Tyr) c.11735G>A (p.Cys3912Tyr) c.11732G>A (p.Cys3911Tyr) c.359G>A c.5119G>A c.11717G>A (p.Cys3906Tyr) c.11747G>A (p.Cys3916Tyr) | ClinVar dbSNP |
19 | g.38543407G>C | CA405661314 | RYR1 | c.160G>C c.142G>C c.11750G>C (p.Cys3917Ser) c.11735G>C (p.Cys3912Ser) c.11732G>C (p.Cys3911Ser) c.359G>C c.5119G>C c.11717G>C (p.Cys3906Ser) c.11747G>C (p.Cys3916Ser) | |
19 | g.38543407G= | CA2335074331 | RYR1 | c.160G= c.142G= c.11750G= (p.Cys3917=) c.11735G= (p.Cys3912=) c.11732G= (p.Cys3911=) c.359G= c.5119G= c.11717G= (p.Cys3906=) c.11747G= (p.Cys3916=) | |
19 | g.38543407G>T | CA405661316 | RYR1 | c.160G>T c.142G>T c.11750G>T (p.Cys3917Phe) c.11735G>T (p.Cys3912Phe) c.11732G>T (p.Cys3911Phe) c.359G>T c.5119G>T c.11717G>T (p.Cys3906Phe) c.11747G>T (p.Cys3916Phe) | |
19 | g.38543408C>A | CA405661317 | RYR1 | c.161C>A c.143C>A c.11751C>A (p.Cys3917Ter) c.11736C>A (p.Cys3912Ter) c.11733C>A (p.Cys3911Ter) c.360C>A c.5120C>A c.11718C>A (p.Cys3906Ter) c.11748C>A (p.Cys3916Ter) | |
19 | g.38543408C= | CA2335074332 | RYR1 | c.161C= c.143C= c.11751C= (p.Cys3917=) c.11736C= (p.Cys3912=) c.11733C= (p.Cys3911=) c.360C= c.5120C= c.11718C= (p.Cys3906=) c.11748C= (p.Cys3916=) | |
19 | g.38543408C>G | CA405661319 | RYR1 | c.161C>G c.143C>G c.11751C>G (p.Cys3917Trp) c.11736C>G (p.Cys3912Trp) c.11733C>G (p.Cys3911Trp) c.360C>G c.5120C>G c.11718C>G (p.Cys3906Trp) c.11748C>G (p.Cys3916Trp) | |
19 | g.38543408C>T | CA057590 | RYR1 | c.161C>T c.143C>T c.11751C>T (p.Cys3917=) c.11736C>T (p.Cys3912=) c.11733C>T (p.Cys3911=) c.360C>T c.5120C>T c.11718C>T (p.Cys3906=) c.11748C>T (p.Cys3916=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38543409A>C | CA405661323 | RYR1 | c.162A>C c.144A>C c.11752A>C (p.Thr3918Pro) c.11737A>C (p.Thr3913Pro) c.11734A>C (p.Thr3912Pro) c.361A>C c.5121A>C c.11719A>C (p.Thr3907Pro) c.11749A>C (p.Thr3917Pro) | gnomAD v4 |
19 | g.38543409A>G | CA405661328 | RYR1 | c.162A>G c.144A>G c.11752A>G (p.Thr3918Ala) c.11737A>G (p.Thr3913Ala) c.11734A>G (p.Thr3912Ala) c.361A>G c.5121A>G c.11719A>G (p.Thr3907Ala) c.11749A>G (p.Thr3917Ala) | gnomAD v4 |
19 | g.38543409A>T | CA405661326 | RYR1 | c.162A>T c.144A>T c.11752A>T (p.Thr3918Ser) c.11737A>T (p.Thr3913Ser) c.11734A>T (p.Thr3912Ser) c.361A>T c.5121A>T c.11719A>T (p.Thr3907Ser) c.11749A>T (p.Thr3917Ser) | |
19 | g.38543410C>A | CA405661330 | RYR1 | c.163C>A c.145C>A c.11753C>A (p.Thr3918Asn) c.11738C>A (p.Thr3913Asn) c.11735C>A (p.Thr3912Asn) c.362C>A c.5122C>A c.11720C>A (p.Thr3907Asn) c.11750C>A (p.Thr3917Asn) | |
19 | g.38543410C>G | CA405661332 | RYR1 | c.163C>G c.145C>G c.11753C>G (p.Thr3918Ser) c.11738C>G (p.Thr3913Ser) c.11735C>G (p.Thr3912Ser) c.362C>G c.5122C>G c.11720C>G (p.Thr3907Ser) c.11750C>G (p.Thr3917Ser) | |
19 | g.38543410C>T | CA405661334 | RYR1 | c.163C>T c.145C>T c.11753C>T (p.Thr3918Ile) c.11738C>T (p.Thr3913Ile) c.11735C>T (p.Thr3912Ile) c.362C>T c.5122C>T c.11720C>T (p.Thr3907Ile) c.11750C>T (p.Thr3917Ile) | |
19 | g.38543411T>A | CA023932 | RYR1 | c.164T>A c.146T>A c.11754T>A (p.Thr3918=) c.11739T>A (p.Thr3913=) c.11736T>A (p.Thr3912=) c.363T>A c.5123T>A c.11721T>A (p.Thr3907=) c.11751T>A (p.Thr3917=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38543411T>C | CA507354744 | RYR1 | c.164T>C c.146T>C c.11754T>C (p.Thr3918=) c.11739T>C (p.Thr3913=) c.11736T>C (p.Thr3912=) c.363T>C c.5123T>C c.11721T>C (p.Thr3907=) c.11751T>C (p.Thr3917=) | |
19 | g.38543411T>G | CA308092002 | RYR1 | c.164T>G c.146T>G c.11754T>G (p.Thr3918=) c.11739T>G (p.Thr3913=) c.11736T>G (p.Thr3912=) c.363T>G c.5123T>G c.11721T>G (p.Thr3907=) c.11751T>G (p.Thr3917=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38543411T= | CA2335074333 | RYR1 | c.164T= c.146T= c.11754T= (p.Thr3918=) c.11739T= (p.Thr3913=) c.11736T= (p.Thr3912=) c.363T= c.5123T= c.11721T= (p.Thr3907=) c.11751T= (p.Thr3917=) | |
19 | g.38543412G>A | CA405661337 | RYR1 | c.165G>A c.147G>A c.11755G>A (p.Val3919Met) c.11740G>A (p.Val3914Met) c.11737G>A (p.Val3913Met) c.364G>A c.5124G>A c.11722G>A (p.Val3908Met) c.11752G>A (p.Val3918Met) | |
19 | g.38543412G>C | CA405661340 | RYR1 | c.165G>C c.147G>C c.11755G>C (p.Val3919Leu) c.11740G>C (p.Val3914Leu) c.11737G>C (p.Val3913Leu) c.364G>C c.5124G>C c.11722G>C (p.Val3908Leu) c.11752G>C (p.Val3918Leu) | |
19 | g.38543412G>T | CA405661339 | RYR1 | c.165G>T c.147G>T c.11755G>T (p.Val3919Leu) c.11740G>T (p.Val3914Leu) c.11737G>T (p.Val3913Leu) c.364G>T c.5124G>T c.11722G>T (p.Val3908Leu) c.11752G>T (p.Val3918Leu) | ClinVar |
19 | g.38543413T>A | CA405661343 | RYR1 | c.166T>A c.148T>A c.11756T>A (p.Val3919Glu) c.11741T>A (p.Val3914Glu) c.11738T>A (p.Val3913Glu) c.365T>A c.5125T>A c.11723T>A (p.Val3908Glu) c.11753T>A (p.Val3918Glu) | |
19 | g.38543413T>C | CA405661345 | RYR1 | c.166T>C c.148T>C c.11756T>C (p.Val3919Ala) c.11741T>C (p.Val3914Ala) c.11738T>C (p.Val3913Ala) c.365T>C c.5125T>C c.11723T>C (p.Val3908Ala) c.11753T>C (p.Val3918Ala) | |
19 | g.38543413T>G | CA405661347 | RYR1 | c.166T>G c.148T>G c.11756T>G (p.Val3919Gly) c.11741T>G (p.Val3914Gly) c.11738T>G (p.Val3913Gly) c.365T>G c.5125T>G c.11723T>G (p.Val3908Gly) c.11753T>G (p.Val3918Gly) | |
19 | g.38543414G>A | CA507354750 | RYR1 | c.167G>A c.149G>A c.11757G>A (p.Val3919=) c.11742G>A (p.Val3914=) c.11739G>A (p.Val3913=) c.366G>A c.5126G>A c.11724G>A (p.Val3908=) c.11754G>A (p.Val3918=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38543414G>C | CA507354751 | RYR1 | c.167G>C c.149G>C c.11757G>C (p.Val3919=) c.11742G>C (p.Val3914=) c.11739G>C (p.Val3913=) c.366G>C c.5126G>C c.11724G>C (p.Val3908=) c.11754G>C (p.Val3918=) | |
19 | g.38543414G>T | CA507354752 | RYR1 | c.167G>T c.149G>T c.11757G>T (p.Val3919=) c.11742G>T (p.Val3914=) c.11739G>T (p.Val3913=) c.366G>T c.5126G>T c.11724G>T (p.Val3908=) c.11754G>T (p.Val3918=) | |
19 | g.38543415G>A | CA405661351 | RYR1 | c.168G>A c.150G>A c.11758G>A (p.Asp3920Asn) c.11743G>A (p.Asp3915Asn) c.11740G>A (p.Asp3914Asn) c.367G>A c.5127G>A c.11725G>A (p.Asp3909Asn) c.11755G>A (p.Asp3919Asn) | dbSNP |
19 | g.38543415G>C | CA405661353 | RYR1 | c.168G>C c.150G>C c.11758G>C (p.Asp3920His) c.11743G>C (p.Asp3915His) c.11740G>C (p.Asp3914His) c.367G>C c.5127G>C c.11725G>C (p.Asp3909His) c.11755G>C (p.Asp3919His) | |
19 | g.38543415G= | CA2335074334 | RYR1 | c.168G= c.150G= c.11758G= (p.Asp3920=) c.11743G= (p.Asp3915=) c.11740G= (p.Asp3914=) c.367G= c.5127G= c.11725G= (p.Asp3909=) c.11755G= (p.Asp3919=) | |
19 | g.38543415G>T | CA405661355 | RYR1 | c.168G>T c.150G>T c.11758G>T (p.Asp3920Tyr) c.11743G>T (p.Asp3915Tyr) c.11740G>T (p.Asp3914Tyr) c.367G>T c.5127G>T c.11725G>T (p.Asp3909Tyr) c.11755G>T (p.Asp3919Tyr) | dbSNP gnomAD v2 gnomAD v4 |