| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38485817G>A | CA405654021 | RYR1 | c.5162G>A (p.Ser1721Asn) c.5159G>A (p.Ser1720Asn) n.5245G>A | gnomAD v4 |
| 19 | g.38485817G>C | CA405654023 | RYR1 | c.5162G>C (p.Ser1721Thr) c.5159G>C (p.Ser1720Thr) n.5245G>C | gnomAD v4 |
| 19 | g.38485817G>T | CA405654025 | RYR1 | c.5162G>T (p.Ser1721Ile) c.5159G>T (p.Ser1720Ile) n.5245G>T | |
| 19 | g.38485818T>A | CA405654027 | RYR1 | c.5163T>A (p.Ser1721Arg) c.5160T>A (p.Ser1720Arg) n.5246T>A | |
| 19 | g.38485818T>C | CA507353159 | RYR1 | c.5163T>C (p.Ser1721=) c.5160T>C (p.Ser1720=) n.5246T>C | dbSNP gnomAD v4 |
| 19 | g.38485818T>G | CA405654026 | RYR1 | c.5163T>G (p.Ser1721Arg) c.5160T>G (p.Ser1720Arg) n.5246T>G | |
| 19 | g.38485818T= | CA2335046257 | RYR1 | c.5163T= (p.Ser1721=) c.5160T= (p.Ser1720=) n.5246T= | |
| 19 | g.38485819G>A | CA405654028 | RYR1 | c.5164G>A (p.Ala1722Thr) c.5161G>A (p.Ala1721Thr) n.5247G>A | ClinVar |
| 19 | g.38485819G>C | CA405654029 | RYR1 | c.5164G>C (p.Ala1722Pro) c.5161G>C (p.Ala1721Pro) n.5247G>C | dbSNP |
| 19 | g.38485819G= | CA2335046258 | RYR1 | c.5164G= (p.Ala1722=) c.5161G= (p.Ala1721=) n.5247G= | |
| 19 | g.38485819G>T | CA405654031 | RYR1 | c.5164G>T (p.Ala1722Ser) c.5161G>T (p.Ala1721Ser) n.5247G>T | |
| 19 | g.38485820C>A | CA405654032 | RYR1 | c.5165C>A (p.Ala1722Asp) c.5162C>A (p.Ala1721Asp) n.5248C>A | |
| 19 | g.38485820C>G | CA405654033 | RYR1 | c.5165C>G (p.Ala1722Gly) c.5162C>G (p.Ala1721Gly) n.5248C>G | |
| 19 | g.38485820C>T | CA405654035 | RYR1 | c.5165C>T (p.Ala1722Val) c.5162C>T (p.Ala1721Val) n.5248C>T | |
| 19 | g.38485821C>A | CA507353163 | RYR1 | c.5166C>A (p.Ala1722=) c.5163C>A (p.Ala1721=) n.5249C>A | |
| 19 | g.38485821C= | CA2335046259 | RYR1 | c.5166C= (p.Ala1722=) c.5163C= (p.Ala1721=) n.5249C= | |
| 19 | g.38485821C>G | CA507353164 | RYR1 | c.5166C>G (p.Ala1722=) c.5163C>G (p.Ala1721=) n.5249C>G | |
| 19 | g.38485821C>T | CA507353165 | RYR1 | c.5166C>T (p.Ala1722=) c.5163C>T (p.Ala1721=) n.5249C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485822T>A | CA405654036 | RYR1 | c.5167T>A (p.Cys1723Ser) c.5164T>A (p.Cys1722Ser) n.5250T>A | |
| 19 | g.38485822T>C | CA405654037 | RYR1 | c.5167T>C (p.Cys1723Arg) c.5164T>C (p.Cys1722Arg) n.5250T>C | |
| 19 | g.38485822T>G | CA405654039 | RYR1 | c.5167T>G (p.Cys1723Gly) c.5164T>G (p.Cys1722Gly) n.5250T>G | |
| 19 | g.38485823G>A | CA405654041 | RYR1 | c.5168G>A (p.Cys1723Tyr) c.5165G>A (p.Cys1722Tyr) n.5251G>A | |
| 19 | g.38485823G>C | CA405654042 | RYR1 | c.5168G>C (p.Cys1723Ser) c.5165G>C (p.Cys1722Ser) n.5251G>C | |
| 19 | g.38485823G>T | CA405654043 | RYR1 | c.5168G>T (p.Cys1723Phe) c.5165G>T (p.Cys1722Phe) n.5251G>T | |
| 19 | g.38485824C>A | CA405654044 | RYR1 | c.5169C>A (p.Cys1723Ter) c.5166C>A (p.Cys1722Ter) n.5252C>A | |
| 19 | g.38485824C>G | CA405654045 | RYR1 | c.5169C>G (p.Cys1723Trp) c.5166C>G (p.Cys1722Trp) n.5252C>G | |
| 19 | g.38485824C>T | CA507353166 | RYR1 | c.5169C>T (p.Cys1723=) c.5166C>T (p.Cys1722=) n.5252C>T | |
| 19 | g.38485825C>A | CA405654049 | RYR1 | c.5170C>A (p.Arg1724Ser) c.5167C>A (p.Arg1723Ser) n.5253C>A | |
| 19 | g.38485825C= | CA2335046260 | RYR1 | c.5170C= (p.Arg1724=) c.5167C= (p.Arg1723=) n.5253C= | |
| 19 | g.38485825C>G | CA405654048 | RYR1 | c.5170C>G (p.Arg1724Gly) c.5167C>G (p.Arg1723Gly) n.5253C>G | ClinVar gnomAD v4 |
| 19 | g.38485825C>T | CA066721 | RYR1 | c.5170C>T (p.Arg1724Cys) c.5167C>T (p.Arg1723Cys) n.5253C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485826G>A | CA066725 | RYR1 | c.5171G>A (p.Arg1724His) c.5168G>A (p.Arg1723His) n.5254G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485826G>C | CA405654051 | RYR1 | c.5171G>C (p.Arg1724Pro) c.5168G>C (p.Arg1723Pro) n.5254G>C | |
| 19 | g.38485826G= | CA2335046261 | RYR1 | c.5171G= (p.Arg1724=) c.5168G= (p.Arg1723=) n.5254G= | |
| 19 | g.38485826G>T | CA405654053 | RYR1 | c.5171G>T (p.Arg1724Leu) c.5168G>T (p.Arg1723Leu) n.5254G>T | |
| 19 | g.38485827C>A | CA507353170 | RYR1 | c.5172C>A (p.Arg1724=) c.5169C>A (p.Arg1723=) n.5255C>A | |
| 19 | g.38485827C= | CA2335046262 | RYR1 | c.5172C= (p.Arg1724=) c.5169C= (p.Arg1723=) n.5255C= | |
| 19 | g.38485827C>G | CA507353171 | RYR1 | c.5172C>G (p.Arg1724=) c.5169C>G (p.Arg1723=) n.5255C>G | |
| 19 | g.38485827C>T | CA507353172 | RYR1 | c.5172C>T (p.Arg1724=) c.5169C>T (p.Arg1723=) n.5255C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485828A>C | CA405654054 | RYR1 | c.5173A>C (p.Ser1725Arg) c.5170A>C (p.Ser1724Arg) n.5256A>C | gnomAD v4 |
| 19 | g.38485828A>G | CA405654057 | RYR1 | c.5173A>G (p.Ser1725Gly) c.5170A>G (p.Ser1724Gly) n.5256A>G | |
| 19 | g.38485828A>T | CA405654056 | RYR1 | c.5173A>T (p.Ser1725Cys) c.5170A>T (p.Ser1724Cys) n.5256A>T | dbSNP |
| 19 | g.38485829G>A | CA081723 | RYR1 | c.5174G>A (p.Ser1725Asn) c.5171G>A (p.Ser1724Asn) n.5257G>A | |
| 19 | g.38485829G>C | CA405654059 | RYR1 | c.5174G>C (p.Ser1725Thr) c.5171G>C (p.Ser1724Thr) n.5257G>C | dbSNP |
| 19 | g.38485829G>T | CA405654061 | RYR1 | c.5174G>T (p.Ser1725Ile) c.5171G>T (p.Ser1724Ile) n.5257G>T | gnomAD v4 |
| 19 | g.38485834_38485836del | CA2584898017 | RYR1 | c.5179_5181del (p.Arg1727del) c.5176_5178del (p.Arg1726del) n.5262_5264del | gnomAD v4 |
| 19 | g.38485830C>A | CA066728 | RYR1 | c.5175C>A (p.Ser1725Arg) c.5172C>A (p.Ser1724Arg) n.5258C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485830C= | CA2335046263 | RYR1 | c.5175C= (p.Ser1725=) c.5172C= (p.Ser1724=) n.5258C= | |
| 19 | g.38485830C>G | CA405654063 | RYR1 | c.5175C>G (p.Ser1725Arg) c.5172C>G (p.Ser1724Arg) n.5258C>G | |
| 19 | g.38485830C>T | CA507353174 | RYR1 | c.5175C>T (p.Ser1725=) c.5172C>T (p.Ser1724=) n.5258C>T | |
| 19 | g.38485831C>A | CA405654065 | RYR1 | c.5176C>A (p.Arg1726Ser) c.5173C>A (p.Arg1725Ser) n.5259C>A | |
| 19 | g.38485831C= | CA2335046264 | RYR1 | c.5176C= (p.Arg1726=) c.5173C= (p.Arg1725=) n.5259C= | |
| 19 | g.38485831C>G | CA405654067 | RYR1 | c.5176C>G (p.Arg1726Gly) c.5173C>G (p.Arg1725Gly) n.5259C>G | |
| 19 | g.38485831C>T | CA405654069 | RYR1 | c.5176C>T (p.Arg1726Cys) c.5173C>T (p.Arg1725Cys) n.5259C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485832G>A | CA405654070 | RYR1 | c.5177G>A (p.Arg1726His) c.5174G>A (p.Arg1725His) n.5260G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38485832G>C | CA405654071 | RYR1 | c.5177G>C (p.Arg1726Pro) c.5174G>C (p.Arg1725Pro) n.5260G>C | |
| 19 | g.38485832G= | CA2335046265 | RYR1 | c.5177G= (p.Arg1726=) c.5174G= (p.Arg1725=) n.5260G= | |
| 19 | g.38485832G>T | CA405654072 | RYR1 | c.5177G>T (p.Arg1726Leu) c.5174G>T (p.Arg1725Leu) n.5260G>T | gnomAD v4 |
| 19 | g.38485833C>A | CA081724 | RYR1 | c.5178C>A (p.Arg1726=) c.5175C>A (p.Arg1725=) n.5261C>A | |
| 19 | g.38485833C= | CA2335046266 | RYR1 | c.5178C= (p.Arg1726=) c.5175C= (p.Arg1725=) n.5261C= | |
| 19 | g.38485833C>G | CA507353176 | RYR1 | c.5178C>G (p.Arg1726=) c.5175C>G (p.Arg1725=) n.5261C>G | |
| 19 | g.38485833C>T | CA308093281 | RYR1 | c.5178C>T (p.Arg1726=) c.5175C>T (p.Arg1725=) n.5261C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485834C>A | CA405654075 | RYR1 | c.5179C>A (p.Arg1727Ser) c.5176C>A (p.Arg1726Ser) n.5262C>A | |
| 19 | g.38485834C= | CA2335046267 | RYR1 | c.5179C= (p.Arg1727=) c.5176C= (p.Arg1726=) n.5262C= | |
| 19 | g.38485834C>G | CA405654077 | RYR1 | c.5179C>G (p.Arg1727Gly) c.5176C>G (p.Arg1726Gly) n.5262C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485834C>T | CA066734 | RYR1 | c.5179C>T (p.Arg1727Cys) c.5176C>T (p.Arg1726Cys) n.5262C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485835G>A | CA066738 | RYR1 | c.5180G>A (p.Arg1727His) c.5177G>A (p.Arg1726His) n.5263G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485835G>C | CA405654079 | RYR1 | c.5180G>C (p.Arg1727Pro) c.5177G>C (p.Arg1726Pro) n.5263G>C | |
| 19 | g.38485835G= | CA2335046268 | RYR1 | c.5180G= (p.Arg1727=) c.5177G= (p.Arg1726=) n.5263G= | |
| 19 | g.38485835G>T | CA405654081 | RYR1 | c.5180G>T (p.Arg1727Leu) c.5177G>T (p.Arg1726Leu) n.5263G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485836C>A | CA507353178 | RYR1 | c.5181C>A (p.Arg1727=) c.5178C>A (p.Arg1726=) n.5264C>A | |
| 19 | g.38485836C= | CA2335046269 | RYR1 | c.5181C= (p.Arg1727=) c.5178C= (p.Arg1726=) n.5264C= | |
| 19 | g.38485836C>G | CA507353181 | RYR1 | c.5181C>G (p.Arg1727=) c.5178C>G (p.Arg1726=) n.5264C>G | |
| 19 | g.38485836C>T | CA507353182 | RYR1 | c.5181C>T (p.Arg1727=) c.5178C>T (p.Arg1726=) n.5264C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485837T>A | CA405654084 | RYR1 | c.5182T>A (p.Ser1728Thr) c.5179T>A (p.Ser1727Thr) n.5265T>A | |
| 19 | g.38485837T>C | CA024493 | RYR1 | c.5182T>C (p.Ser1728Pro) c.5179T>C (p.Ser1727Pro) n.5265T>C | ClinVar dbSNP |
| 19 | g.38485837T>G | CA405654085 | RYR1 | c.5182T>G (p.Ser1728Ala) c.5179T>G (p.Ser1727Ala) n.5265T>G | |
| 19 | g.38485837T= | CA2335046270 | RYR1 | c.5182T= (p.Ser1728=) c.5179T= (p.Ser1727=) n.5265T= | |
| 19 | g.38485838C>A | CA405654086 | RYR1 | c.5183C>A (p.Ser1728Tyr) c.5180C>A (p.Ser1727Tyr) n.5266C>A | |
| 19 | g.38485838C= | CA2335046271 | RYR1 | c.5183C= (p.Ser1728=) c.5180C= (p.Ser1727=) n.5266C= | |
| 19 | g.38485838C>G | CA405654087 | RYR1 | c.5183C>G (p.Ser1728Cys) c.5180C>G (p.Ser1727Cys) n.5266C>G | |
| 19 | g.38485838C>T | CA024494 | RYR1 | c.5183C>T (p.Ser1728Phe) c.5180C>T (p.Ser1727Phe) n.5266C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485839C>A | CA507353189 | RYR1 | c.5184C>A (p.Ser1728=) c.5181C>A (p.Ser1727=) n.5267C>A | |
| 19 | g.38485839C>G | CA507353190 | RYR1 | c.5184C>G (p.Ser1728=) c.5181C>G (p.Ser1727=) n.5267C>G | |
| 19 | g.38485839C>T | CA507353191 | RYR1 | c.5184C>T (p.Ser1728=) c.5181C>T (p.Ser1727=) n.5267C>T | |
| 19 | g.38485840A>C | CA405654091 | RYR1 | c.5185A>C (p.Met1729Leu) c.5182A>C (p.Met1728Leu) n.5268A>C | |
| 19 | g.38485840A>G | CA405654092 | RYR1 | c.5185A>G (p.Met1729Val) c.5182A>G (p.Met1728Val) n.5268A>G | |
| 19 | g.38485840A>T | CA405654089 | RYR1 | c.5185A>T (p.Met1729Leu) c.5182A>T (p.Met1728Leu) n.5268A>T | |
| 19 | g.38485841T>A | CA405654093 | RYR1 | c.5186T>A (p.Met1729Lys) c.5183T>A (p.Met1728Lys) n.5269T>A | |
| 19 | g.38485841T>C | CA405654094 | RYR1 | c.5186T>C (p.Met1729Thr) c.5183T>C (p.Met1728Thr) n.5269T>C | gnomAD v4 |
| 19 | g.38485841T>G | CA024497 | RYR1 | c.5186T>G (p.Met1729Arg) c.5183T>G (p.Met1728Arg) n.5269T>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485841T= | CA2335046272 | RYR1 | c.5186T= (p.Met1729=) c.5183T= (p.Met1728=) n.5269T= | |
| 19 | g.38485842G>A | CA405654097 | RYR1 | c.5187G>A (p.Met1729Ile) c.5184G>A (p.Met1728Ile) n.5270G>A | |
| 19 | g.38485842G>C | CA405654098 | RYR1 | c.5187G>C (p.Met1729Ile) c.5184G>C (p.Met1728Ile) n.5270G>C | |
| 19 | g.38485842G>T | CA405654100 | RYR1 | c.5187G>T (p.Met1729Ile) c.5184G>T (p.Met1728Ile) n.5270G>T | gnomAD v4 |
| 19 | g.38485843C>A | CA405654102 | RYR1 | c.5188C>A (p.Leu1730Ile) c.5185C>A (p.Leu1729Ile) n.5271C>A | |
| 19 | g.38485843C>G | CA405654105 | RYR1 | c.5188C>G (p.Leu1730Val) c.5185C>G (p.Leu1729Val) n.5271C>G | |
| 19 | g.38485843C>T | CA405654103 | RYR1 | c.5188C>T (p.Leu1730Phe) c.5185C>T (p.Leu1729Phe) n.5271C>T | |
| 19 | g.38485847_38485848del | CA2584898018 | RYR1 | c.5192_5193del (p.Ser1731Ter) c.5189_5190del (p.Ser1730Ter) n.5275_5276del | gnomAD v4 |
| 19 | g.38485844T>A | CA405654106 | RYR1 | c.5189T>A (p.Leu1730His) c.5186T>A (p.Leu1729His) n.5272T>A | |
| 19 | g.38485844T>C | CA405654108 | RYR1 | c.5189T>C (p.Leu1730Pro) c.5186T>C (p.Leu1729Pro) n.5272T>C | ClinVar |
| 19 | g.38485844T>G | CA405654109 | RYR1 | c.5189T>G (p.Leu1730Arg) c.5186T>G (p.Leu1729Arg) n.5272T>G | |
| 19 | g.38485845C>A | CA507353198 | RYR1 | c.5190C>A (p.Leu1730=) c.5187C>A (p.Leu1729=) n.5273C>A | |
| 19 | g.38485845C= | CA2335046273 | RYR1 | c.5190C= (p.Leu1730=) c.5187C= (p.Leu1729=) n.5273C= | |
| 19 | g.38485845C>G | CA066746 | RYR1 | c.5190C>G (p.Leu1730=) c.5187C>G (p.Leu1729=) n.5273C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485845C>T | CA507353199 | RYR1 | c.5190C>T (p.Leu1730=) c.5187C>T (p.Leu1729=) n.5273C>T | |
| 19 | g.38485846T>A | CA405654111 | RYR1 | c.5191T>A (p.Ser1731Thr) c.5188T>A (p.Ser1730Thr) n.5274T>A | |
| 19 | g.38485846T>C | CA405654114 | RYR1 | c.5191T>C (p.Ser1731Pro) c.5188T>C (p.Ser1730Pro) n.5274T>C | |
| 19 | g.38485846T>G | CA405654113 | RYR1 | c.5191T>G (p.Ser1731Ala) c.5188T>G (p.Ser1730Ala) n.5274T>G | |
| 19 | g.38485847C>A | CA405654115 | RYR1 | c.5192C>A (p.Ser1731Tyr) c.5189C>A (p.Ser1730Tyr) n.5275C>A | |
| 19 | g.38485847C>G | CA405654117 | RYR1 | c.5192C>G (p.Ser1731Cys) c.5189C>G (p.Ser1730Cys) n.5275C>G | |
| 19 | g.38485847C>T | CA405654118 | RYR1 | c.5192C>T (p.Ser1731Phe) c.5189C>T (p.Ser1730Phe) n.5275C>T | |
| 19 | g.38485848T>A | CA507353204 | RYR1 | c.5193T>A (p.Ser1731=) c.5190T>A (p.Ser1730=) n.5276T>A | |
| 19 | g.38485848T>C | CA066750 | RYR1 | c.5193T>C (p.Ser1731=) c.5190T>C (p.Ser1730=) n.5276T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485848T>G | CA507353205 | RYR1 | c.5193T>G (p.Ser1731=) c.5190T>G (p.Ser1730=) n.5276T>G | |
| 19 | g.38485848T= | CA2335046274 | RYR1 | c.5193T= (p.Ser1731=) c.5190T= (p.Ser1730=) n.5276T= | |
| 19 | g.38485849G>A | CA405654121 | RYR1 | c.5194G>A (p.Glu1732Lys) c.5191G>A (p.Glu1731Lys) n.5277G>A | COSMIC |
| 19 | g.38485849G>C | CA066755 | RYR1 | c.5194G>C (p.Glu1732Gln) c.5191G>C (p.Glu1731Gln) n.5277G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485849G= | CA2335046275 | RYR1 | c.5194G= (p.Glu1732=) c.5191G= (p.Glu1731=) n.5277G= | |
| 19 | g.38485849G>T | CA405654122 | RYR1 | c.5194G>T (p.Glu1732Ter) c.5191G>T (p.Glu1731Ter) n.5277G>T | |
| 19 | g.38485850A= | CA2335046276 | RYR1 | c.5195A= (p.Glu1732=) c.5192A= (p.Glu1731=) n.5278A= | |
| 19 | g.38485850A>C | CA405654124 | RYR1 | c.5195A>C (p.Glu1732Ala) c.5192A>C (p.Glu1731Ala) n.5278A>C | ClinVar dbSNP |
| 19 | g.38485850A>G | CA405654125 | RYR1 | c.5195A>G (p.Glu1732Gly) c.5192A>G (p.Glu1731Gly) n.5278A>G | |
| 19 | g.38485850A>T | CA405654127 | RYR1 | c.5195A>T (p.Glu1732Val) c.5192A>T (p.Glu1731Val) n.5278A>T | |
| 19 | g.38485851A>C | CA405654128 | RYR1 | c.5196A>C (p.Glu1732Asp) c.5193A>C (p.Glu1731Asp) n.5279A>C | |
| 19 | g.38485851A>G | CA507353211 | RYR1 | c.5196A>G (p.Glu1732=) c.5193A>G (p.Glu1731=) n.5279A>G | |
| 19 | g.38485851A>T | CA405654130 | RYR1 | c.5196A>T (p.Glu1732Asp) c.5193A>T (p.Glu1731Asp) n.5279A>T | ClinVar dbSNP |
| 19 | g.38485852T>A | CA066758 | RYR1 | c.5197T>A (p.Tyr1733Asn) c.5194T>A (p.Tyr1732Asn) n.5280T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485852T>C | CA405654134 | RYR1 | c.5197T>C (p.Tyr1733His) c.5194T>C (p.Tyr1732His) n.5280T>C | |
| 19 | g.38485852T>G | CA405654132 | RYR1 | c.5197T>G (p.Tyr1733Asp) c.5194T>G (p.Tyr1732Asp) n.5280T>G | gnomAD v4 |
| 19 | g.38485852T= | CA2335046277 | RYR1 | c.5197T= (p.Tyr1733=) c.5194T= (p.Tyr1732=) n.5280T= | |
| 19 | g.38485853A= | CA2335046278 | RYR1 | c.5198A= (p.Tyr1733=) c.5195A= (p.Tyr1732=) n.5281A= | |
| 19 | g.38485853A>C | CA066760 | RYR1 | c.5198A>C (p.Tyr1733Ser) c.5195A>C (p.Tyr1732Ser) n.5281A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485853A>G | CA405654136 | RYR1 | c.5198A>G (p.Tyr1733Cys) c.5195A>G (p.Tyr1732Cys) n.5281A>G | |
| 19 | g.38485853A>T | CA405654137 | RYR1 | c.5198A>T (p.Tyr1733Phe) c.5195A>T (p.Tyr1732Phe) n.5281A>T | |
| 19 | g.38485854C>A | CA405654138 | RYR1 | c.5199C>A (p.Tyr1733Ter) c.5196C>A (p.Tyr1732Ter) n.5282C>A | |
| 19 | g.38485854C= | CA2335046279 | RYR1 | c.5199C= (p.Tyr1733=) c.5196C= (p.Tyr1732=) n.5282C= | |
| 19 | g.38485854C>G | CA405654139 | RYR1 | c.5199C>G (p.Tyr1733Ter) c.5196C>G (p.Tyr1732Ter) n.5282C>G | |
| 19 | g.38485854C>T | CA066764 | RYR1 | c.5199C>T (p.Tyr1733=) c.5196C>T (p.Tyr1732=) n.5282C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485855A>C | CA405654141 | RYR1 | c.5200A>C (p.Ile1734Leu) c.5197A>C (p.Ile1733Leu) n.5283A>C | |
| 19 | g.38485855A>G | CA405654143 | RYR1 | c.5200A>G (p.Ile1734Val) c.5197A>G (p.Ile1733Val) n.5283A>G | gnomAD v4 |
| 19 | g.38485855A>T | CA405654145 | RYR1 | c.5200A>T (p.Ile1734Phe) c.5197A>T (p.Ile1733Phe) n.5283A>T | gnomAD v4 |
| 19 | g.38485856T>A | CA405654146 | RYR1 | c.5201T>A (p.Ile1734Asn) c.5198T>A (p.Ile1733Asn) n.5284T>A | |
| 19 | g.38485856T>C | CA405654148 | RYR1 | c.5201T>C (p.Ile1734Thr) c.5198T>C (p.Ile1733Thr) n.5284T>C | |
| 19 | g.38485856T>G | CA405654150 | RYR1 | c.5201T>G (p.Ile1734Ser) c.5198T>G (p.Ile1733Ser) n.5284T>G | |
| 19 | g.38485857C>A | CA308093297 | RYR1 | c.5202C>A (p.Ile1734=) c.5199C>A (p.Ile1733=) n.5285C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485857C= | CA2335046280 | RYR1 | c.5202C= (p.Ile1734=) c.5199C= (p.Ile1733=) n.5285C= | |
| 19 | g.38485857C>G | CA405654151 | RYR1 | c.5202C>G (p.Ile1734Met) c.5199C>G (p.Ile1733Met) n.5285C>G | |
| 19 | g.38485857C>T | CA081732 | RYR1 | c.5202C>T (p.Ile1734=) c.5199C>T (p.Ile1733=) n.5285C>T | gnomAD v4 COSMIC |
| 19 | g.38485858G>A | CA405654157 | RYR1 | c.5203G>A (p.Val1735Met) c.5200G>A (p.Val1734Met) n.5286G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.38485858G>C | CA405654155 | RYR1 | c.5203G>C (p.Val1735Leu) c.5200G>C (p.Val1734Leu) n.5286G>C | |
| 19 | g.38485858G= | CA2335046281 | RYR1 | c.5203G= (p.Val1735=) c.5200G= (p.Val1734=) n.5286G= | |
| 19 | g.38485858G>T | CA405654153 | RYR1 | c.5203G>T (p.Val1735Leu) c.5200G>T (p.Val1734Leu) n.5286G>T | gnomAD v4 |
| 19 | g.38485859T>A | CA405654159 | RYR1 | c.5204T>A (p.Val1735Glu) c.5201T>A (p.Val1734Glu) n.5287T>A | |
| 19 | g.38485859T>C | CA405654160 | RYR1 | c.5204T>C (p.Val1735Ala) c.5201T>C (p.Val1734Ala) n.5287T>C | |
| 19 | g.38485859T>G | CA405654161 | RYR1 | c.5204T>G (p.Val1735Gly) c.5201T>G (p.Val1734Gly) n.5287T>G | |
| 19 | g.38485860G>A | CA507353221 | RYR1 | c.5205G>A (p.Val1735=) c.5202G>A (p.Val1734=) n.5288G>A | gnomAD v4 COSMIC |
| 19 | g.38485860G>C | CA066769 | RYR1 | c.5205G>C (p.Val1735=) c.5202G>C (p.Val1734=) n.5288G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485860G= | CA2335046282 | RYR1 | c.5205G= (p.Val1735=) c.5202G= (p.Val1734=) n.5288G= | |
| 19 | g.38485860G>T | CA507353223 | RYR1 | c.5205G>T (p.Val1735=) c.5202G>T (p.Val1734=) n.5288G>T | ClinVar gnomAD v4 |
| 19 | g.38485861C>A | CA405654164 | RYR1 | c.5206C>A (p.Pro1736Thr) c.5203C>A (p.Pro1735Thr) n.5289C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485861C= | CA2335046283 | RYR1 | c.5206C= (p.Pro1736=) c.5203C= (p.Pro1735=) n.5289C= | |
| 19 | g.38485861C>G | CA405654165 | RYR1 | c.5206C>G (p.Pro1736Ala) c.5203C>G (p.Pro1735Ala) n.5289C>G | ClinVar |
| 19 | g.38485861C>T | CA066773 | RYR1 | c.5206C>T (p.Pro1736Ser) c.5203C>T (p.Pro1735Ser) n.5289C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485862C>A | CA405654168 | RYR1 | c.5207C>A (p.Pro1736His) c.5204C>A (p.Pro1735His) n.5290C>A | |
| 19 | g.38485862C>G | CA405654170 | RYR1 | c.5207C>G (p.Pro1736Arg) c.5204C>G (p.Pro1735Arg) n.5290C>G | |
| 19 | g.38485862C>T | CA405654171 | RYR1 | c.5207C>T (p.Pro1736Leu) c.5204C>T (p.Pro1735Leu) n.5290C>T | ClinVar gnomAD v4 |
| 19 | g.38485863C>A | CA507353227 | RYR1 | c.5208C>A (p.Pro1736=) c.5205C>A (p.Pro1735=) n.5291C>A | COSMIC |
| 19 | g.38485863C= | CA2335046284 | RYR1 | c.5208C= (p.Pro1736=) c.5205C= (p.Pro1735=) n.5291C= | |
| 19 | g.38485863C>G | CA507353229 | RYR1 | c.5208C>G (p.Pro1736=) c.5205C>G (p.Pro1735=) n.5291C>G | |
| 19 | g.38485863C>T | CA066777 | RYR1 | c.5208C>T (p.Pro1736=) c.5205C>T (p.Pro1735=) n.5291C>T | ClinVar dbSNP ExAC gnomAD v4 |
| 19 | g.38485864C>A | CA405654172 | RYR1 | c.5209C>A (p.Leu1737Ile) c.5206C>A (p.Leu1736Ile) n.5292C>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485864C= | CA2335046285 | RYR1 | c.5209C= (p.Leu1737=) c.5206C= (p.Leu1736=) n.5292C= | |
| 19 | g.38485864C>G | CA405654173 | RYR1 | c.5209C>G (p.Leu1737Val) c.5206C>G (p.Leu1736Val) n.5292C>G | |
| 19 | g.38485864C>T | CA081734 | RYR1 | c.5209C>T (p.Leu1737Phe) c.5206C>T (p.Leu1736Phe) n.5292C>T | |
| 19 | g.38485865T>A | CA405654177 | RYR1 | c.5210T>A (p.Leu1737His) c.5207T>A (p.Leu1736His) n.5293T>A | |
| 19 | g.38485865T>C | CA405654179 | RYR1 | c.5210T>C (p.Leu1737Pro) c.5207T>C (p.Leu1736Pro) n.5293T>C | |
| 19 | g.38485865T>G | CA405654176 | RYR1 | c.5210T>G (p.Leu1737Arg) c.5207T>G (p.Leu1736Arg) n.5293T>G | |
| 19 | g.38485866C>A | CA507353237 | RYR1 | c.5211C>A (p.Leu1737=) c.5208C>A (p.Leu1736=) n.5294C>A | |
| 19 | g.38485866C>G | CA507353234 | RYR1 | c.5211C>G (p.Leu1737=) c.5208C>G (p.Leu1736=) n.5294C>G | |
| 19 | g.38485866C>T | CA081735 | RYR1 | c.5211C>T (p.Leu1737=) c.5208C>T (p.Leu1736=) n.5294C>T | gnomAD v4 |
| 19 | g.38485867del | CA2584898019 | RYR1 | c.5212del (p.Thr1738ArgfsTer?) c.5209del (p.Thr1737ArgfsTer?) n.5295del | gnomAD v4 |
| 19 | g.38485867A>C | CA405654181 | RYR1 | c.5212A>C (p.Thr1738Pro) c.5209A>C (p.Thr1737Pro) n.5295A>C | |
| 19 | g.38485867A>G | CA405654183 | RYR1 | c.5212A>G (p.Thr1738Ala) c.5209A>G (p.Thr1737Ala) n.5295A>G | |
| 19 | g.38485867A>T | CA405654184 | RYR1 | c.5212A>T (p.Thr1738Ser) c.5209A>T (p.Thr1737Ser) n.5295A>T | |
| 19 | g.38485868C>A | CA405654185 | RYR1 | c.5213C>A (p.Thr1738Lys) c.5210C>A (p.Thr1737Lys) n.5296C>A | |
| 19 | g.38485868C= | CA2335046286 | RYR1 | c.5213C= (p.Thr1738=) c.5210C= (p.Thr1737=) n.5296C= | |
| 19 | g.38485868C>G | CA405654186 | RYR1 | c.5213C>G (p.Thr1738Arg) c.5210C>G (p.Thr1737Arg) n.5296C>G | |
| 19 | g.38485868C>T | CA405654188 | RYR1 | c.5213C>T (p.Thr1738Met) c.5210C>T (p.Thr1737Met) n.5296C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485869G>A | CA507353241 | RYR1 | c.5214G>A (p.Thr1738=) c.5211G>A (p.Thr1737=) n.5297G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38485869G>C | CA507353243 | RYR1 | c.5214G>C (p.Thr1738=) c.5211G>C (p.Thr1737=) n.5297G>C | |
| 19 | g.38485869G= | CA2335046287 | RYR1 | c.5214G= (p.Thr1738=) c.5211G= (p.Thr1737=) n.5297G= | |
| 19 | g.38485869G>T | CA507353245 | RYR1 | c.5214G>T (p.Thr1738=) c.5211G>T (p.Thr1737=) n.5297G>T | |
| 19 | g.38485870C>A | CA405654190 | RYR1 | c.5215C>A (p.Pro1739Thr) c.5212C>A (p.Pro1738Thr) n.5298C>A | |
| 19 | g.38485870C= | CA2335046288 | RYR1 | c.5215C= (p.Pro1739=) c.5212C= (p.Pro1738=) n.5298C= | |
| 19 | g.38485870C>G | CA405654191 | RYR1 | c.5215C>G (p.Pro1739Ala) c.5212C>G (p.Pro1738Ala) n.5298C>G | |
| 19 | g.38485870C>T | CA405654192 | RYR1 | c.5215C>T (p.Pro1739Ser) c.5212C>T (p.Pro1738Ser) n.5298C>T | dbSNP gnomAD v4 |
| 19 | g.38485871C>A | CA405654194 | RYR1 | c.5216C>A (p.Pro1739His) c.5213C>A (p.Pro1738His) n.5299C>A | |
| 19 | g.38485871C>G | CA405654196 | RYR1 | c.5216C>G (p.Pro1739Arg) c.5213C>G (p.Pro1738Arg) n.5299C>G | |
| 19 | g.38485871C>T | CA405654197 | RYR1 | c.5216C>T (p.Pro1739Leu) c.5213C>T (p.Pro1738Leu) n.5299C>T | |
| 19 | g.38485872T>A | CA507353249 | RYR1 | c.5217T>A (p.Pro1739=) c.5214T>A (p.Pro1738=) n.5300T>A | |
| 19 | g.38485872T>C | CA507353251 | RYR1 | c.5217T>C (p.Pro1739=) c.5214T>C (p.Pro1738=) n.5300T>C | |
| 19 | g.38485872T>G | CA507353253 | RYR1 | c.5217T>G (p.Pro1739=) c.5214T>G (p.Pro1738=) n.5300T>G | |
| 19 | g.38485873G>A | CA405654200 | RYR1 | c.5218G>A (p.Glu1740Lys) c.5215G>A (p.Glu1739Lys) n.5301G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38485873G>C | CA405654202 | RYR1 | c.5218G>C (p.Glu1740Gln) c.5215G>C (p.Glu1739Gln) n.5301G>C | |
| 19 | g.38485873G= | CA2335046289 | RYR1 | c.5218G= (p.Glu1740=) c.5215G= (p.Glu1739=) n.5301G= | |
| 19 | g.38485873G>T | CA405654199 | RYR1 | c.5218G>T (p.Glu1740Ter) c.5215G>T (p.Glu1739Ter) n.5301G>T | ClinVar dbSNP |
| 19 | g.38485874A>C | CA405654203 | RYR1 | c.5219A>C (p.Glu1740Ala) c.5216A>C (p.Glu1739Ala) n.5302A>C | |
| 19 | g.38485874A>G | CA405654205 | RYR1 | c.5219A>G (p.Glu1740Gly) c.5216A>G (p.Glu1739Gly) n.5302A>G | |
| 19 | g.38485874A>T | CA405654207 | RYR1 | c.5219A>T (p.Glu1740Val) c.5216A>T (p.Glu1739Val) n.5302A>T | |
| 19 | g.38485875G>A | CA507353258 | RYR1 | c.5220G>A (p.Glu1740=) c.5217G>A (p.Glu1739=) n.5303G>A | |
| 19 | g.38485875G>C | CA405654208 | RYR1 | c.5220G>C (p.Glu1740Asp) c.5217G>C (p.Glu1739Asp) n.5303G>C | |
| 19 | g.38485875G>T | CA405654209 | RYR1 | c.5220G>T (p.Glu1740Asp) c.5217G>T (p.Glu1739Asp) n.5303G>T | gnomAD v4 |
| 19 | g.38485876A>C | CA405654214 | RYR1 | c.5221A>C (p.Thr1741Pro) c.5218A>C (p.Thr1740Pro) n.5304A>C | |
| 19 | g.38485876A>G | CA405654211 | RYR1 | c.5221A>G (p.Thr1741Ala) c.5218A>G (p.Thr1740Ala) n.5304A>G | |
| 19 | g.38485876A>T | CA405654213 | RYR1 | c.5221A>T (p.Thr1741Ser) c.5218A>T (p.Thr1740Ser) n.5304A>T | |
| 19 | g.38485877C>A | CA405654216 | RYR1 | c.5222C>A (p.Thr1741Asn) c.5219C>A (p.Thr1740Asn) n.5305C>A | |
| 19 | g.38485877C= | CA2335046290 | RYR1 | c.5222C= (p.Thr1741=) c.5219C= (p.Thr1740=) n.5305C= | |
| 19 | g.38485877C>G | CA308093321 | RYR1 | c.5222C>G (p.Thr1741Ser) c.5219C>G (p.Thr1740Ser) n.5305C>G | dbSNP |
| 19 | g.38485877C>T | CA405654218 | RYR1 | c.5222C>T (p.Thr1741Ile) c.5219C>T (p.Thr1740Ile) n.5305C>T | ClinVar |
| 19 | g.38485878C>A | CA507353262 | RYR1 | c.5223C>A (p.Thr1741=) c.5220C>A (p.Thr1740=) n.5306C>A | dbSNP gnomAD v4 |
| 19 | g.38485878C= | CA2335046291 | RYR1 | c.5223C= (p.Thr1741=) c.5220C= (p.Thr1740=) n.5306C= | |
| 19 | g.38485878C>G | CA507353264 | RYR1 | c.5223C>G (p.Thr1741=) c.5220C>G (p.Thr1740=) n.5306C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485878C>T | CA507353266 | RYR1 | c.5223C>T (p.Thr1741=) c.5220C>T (p.Thr1740=) n.5306C>T | |
| 19 | g.38485879C>A | CA405654220 | RYR1 | c.5224C>A (p.Arg1742Ser) c.5221C>A (p.Arg1741Ser) n.5307C>A | |
| 19 | g.38485879C= | CA2335046292 | RYR1 | c.5224C= (p.Arg1742=) c.5221C= (p.Arg1741=) n.5307C= | |
| 19 | g.38485879C>G | CA405654222 | RYR1 | c.5224C>G (p.Arg1742Gly) c.5221C>G (p.Arg1741Gly) n.5307C>G | |
| 19 | g.38485879C>T | CA405654223 | RYR1 | c.5224C>T (p.Arg1742Cys) c.5221C>T (p.Arg1741Cys) n.5307C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485880G>A | CA066779 | RYR1 | c.5225G>A (p.Arg1742His) c.5222G>A (p.Arg1741His) n.5308G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485880G>C | CA405654227 | RYR1 | c.5225G>C (p.Arg1742Pro) c.5222G>C (p.Arg1741Pro) n.5308G>C | gnomAD v4 |
| 19 | g.38485880G= | CA2335046293 | RYR1 | c.5225G= (p.Arg1742=) c.5222G= (p.Arg1741=) n.5308G= | |
| 19 | g.38485880G>T | CA405654225 | RYR1 | c.5225G>T (p.Arg1742Leu) c.5222G>T (p.Arg1741Leu) n.5308G>T | |
| 19 | g.38485881C>A | CA507353269 | RYR1 | c.5226C>A (p.Arg1742=) c.5223C>A (p.Arg1741=) n.5309C>A | |
| 19 | g.38485881C= | CA2335046294 | RYR1 | c.5226C= (p.Arg1742=) c.5223C= (p.Arg1741=) n.5309C= | |
| 19 | g.38485881C>G | CA507353270 | RYR1 | c.5226C>G (p.Arg1742=) c.5223C>G (p.Arg1741=) n.5309C>G | |
| 19 | g.38485881C>T | CA066782 | RYR1 | c.5226C>T (p.Arg1742=) c.5223C>T (p.Arg1741=) n.5309C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485882G>A | CA405654230 | RYR1 | c.5227G>A (p.Ala1743Thr) c.5224G>A (p.Ala1742Thr) n.5310G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485882G>C | CA405654229 | RYR1 | c.5227G>C (p.Ala1743Pro) c.5224G>C (p.Ala1742Pro) n.5310G>C | |
| 19 | g.38485882G= | CA2335046295 | RYR1 | c.5227G= (p.Ala1743=) c.5224G= (p.Ala1742=) n.5310G= | |
| 19 | g.38485882G>T | CA405654232 | RYR1 | c.5227G>T (p.Ala1743Ser) c.5224G>T (p.Ala1742Ser) n.5310G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485883C>A | CA405654234 | RYR1 | c.5228C>A (p.Ala1743Asp) c.5225C>A (p.Ala1742Asp) n.5311C>A | |
| 19 | g.38485883C>G | CA405654235 | RYR1 | c.5228C>G (p.Ala1743Gly) c.5225C>G (p.Ala1742Gly) n.5311C>G | gnomAD v4 |
| 19 | g.38485883C>T | CA405654237 | RYR1 | c.5228C>T (p.Ala1743Val) c.5225C>T (p.Ala1742Val) n.5311C>T | |
| 19 | g.38485884C>A | CA507353274 | RYR1 | c.5229C>A (p.Ala1743=) c.5226C>A (p.Ala1742=) n.5312C>A | |
| 19 | g.38485884C>G | CA507353276 | RYR1 | c.5229C>G (p.Ala1743=) c.5226C>G (p.Ala1742=) n.5312C>G | |
| 19 | g.38485884C>T | CA081737 | RYR1 | c.5229C>T (p.Ala1743=) c.5226C>T (p.Ala1742=) n.5312C>T | |
| 19 | g.38485885A>C | CA405654239 | RYR1 | c.5230A>C (p.Ile1744Leu) c.5227A>C (p.Ile1743Leu) n.5313A>C | |
| 19 | g.38485885A>G | CA405654241 | RYR1 | c.5230A>G (p.Ile1744Val) c.5227A>G (p.Ile1743Val) n.5313A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485885A>T | CA405654242 | RYR1 | c.5230A>T (p.Ile1744Phe) c.5227A>T (p.Ile1743Phe) n.5313A>T | |
| 19 | g.38485886T>A | CA405654245 | RYR1 | c.5231T>A (p.Ile1744Asn) c.5228T>A (p.Ile1743Asn) n.5314T>A | |
| 19 | g.38485886T>C | CA405654246 | RYR1 | c.5231T>C (p.Ile1744Thr) c.5228T>C (p.Ile1743Thr) n.5314T>C | gnomAD v4 |
| 19 | g.38485886T>G | CA405654247 | RYR1 | c.5231T>G (p.Ile1744Ser) c.5228T>G (p.Ile1743Ser) n.5314T>G | |
| 19 | g.38485887C>A | CA507353278 | RYR1 | c.5232C>A (p.Ile1744=) c.5229C>A (p.Ile1743=) n.5315C>A | |
| 19 | g.38485887C= | CA2335046296 | RYR1 | c.5232C= (p.Ile1744=) c.5229C= (p.Ile1743=) n.5315C= | |
| 19 | g.38485887C>G | CA405654249 | RYR1 | c.5232C>G (p.Ile1744Met) c.5229C>G (p.Ile1743Met) n.5315C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485887C>T | CA507353279 | RYR1 | c.5232C>T (p.Ile1744=) c.5229C>T (p.Ile1743=) n.5315C>T | ClinVar gnomAD v4 |
| 19 | g.38485888A>C | CA405654250 | RYR1 | c.5233A>C (p.Thr1745Pro) c.5230A>C (p.Thr1744Pro) n.5316A>C | |
| 19 | g.38485888A>G | CA405654253 | RYR1 | c.5233A>G (p.Thr1745Ala) c.5230A>G (p.Thr1744Ala) n.5316A>G | |
| 19 | g.38485888A>T | CA405654254 | RYR1 | c.5233A>T (p.Thr1745Ser) c.5230A>T (p.Thr1744Ser) n.5316A>T | |
| 19 | g.38485889C>A | CA405654255 | RYR1 | c.5234C>A (p.Thr1745Lys) c.5231C>A (p.Thr1744Lys) n.5317C>A | |
| 19 | g.38485889C= | CA2335046297 | RYR1 | c.5234C= (p.Thr1745=) c.5231C= (p.Thr1744=) n.5317C= | |
| 19 | g.38485889C>G | CA024499 | RYR1 | c.5234C>G (p.Thr1745Arg) c.5231C>G (p.Thr1744Arg) n.5317C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485889C>T | CA066786 | RYR1 | c.5234C>T (p.Thr1745Met) c.5231C>T (p.Thr1744Met) n.5317C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485890G>A | CA066790 | RYR1 | c.5235G>A (p.Thr1745=) c.5232G>A (p.Thr1744=) n.5318G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485890G>C | CA507353280 | RYR1 | c.5235G>C (p.Thr1745=) c.5232G>C (p.Thr1744=) n.5318G>C | |
| 19 | g.38485890G= | CA2335046298 | RYR1 | c.5235G= (p.Thr1745=) c.5232G= (p.Thr1744=) n.5318G= | |
| 19 | g.38485890G>T | CA507353282 | RYR1 | c.5235G>T (p.Thr1745=) c.5232G>T (p.Thr1744=) n.5318G>T | |
| 19 | g.38485891C>A | CA405654256 | RYR1 | c.5236C>A (p.Leu1746Ile) c.5233C>A (p.Leu1745Ile) n.5319C>A | |
| 19 | g.38485891C= | CA2335046299 | RYR1 | c.5236C= (p.Leu1746=) c.5233C= (p.Leu1745=) n.5319C= | |
| 19 | g.38485891C>G | CA405654257 | RYR1 | c.5236C>G (p.Leu1746Val) c.5233C>G (p.Leu1745Val) n.5319C>G | |
| 19 | g.38485891C>T | CA066793 | RYR1 | c.5236C>T (p.Leu1746Phe) c.5233C>T (p.Leu1745Phe) n.5319C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485892T>A | CA405654260 | RYR1 | c.5237T>A (p.Leu1746His) c.5234T>A (p.Leu1745His) n.5320T>A | |
| 19 | g.38485892T>C | CA405654262 | RYR1 | c.5237T>C (p.Leu1746Pro) c.5234T>C (p.Leu1745Pro) n.5320T>C | gnomAD v4 |
| 19 | g.38485892T>G | CA405654263 | RYR1 | c.5237T>G (p.Leu1746Arg) c.5234T>G (p.Leu1745Arg) n.5320T>G | |
| 19 | g.38485893C>A | CA507353284 | RYR1 | c.5238C>A (p.Leu1746=) c.5235C>A (p.Leu1745=) n.5321C>A | |
| 19 | g.38485893C= | CA2335046300 | RYR1 | c.5238C= (p.Leu1746=) c.5235C= (p.Leu1745=) n.5321C= | |
| 19 | g.38485893C>G | CA507353285 | RYR1 | c.5238C>G (p.Leu1746=) c.5235C>G (p.Leu1745=) n.5321C>G | |
| 19 | g.38485893C>T | CA066796 | RYR1 | c.5238C>T (p.Leu1746=) c.5235C>T (p.Leu1745=) n.5321C>T | ClinVar dbSNP ExAC |
| 19 | g.38485894T>A | CA405654264 | RYR1 | c.5239T>A (p.Phe1747Ile) c.5236T>A (p.Phe1746Ile) n.5322T>A | |
| 19 | g.38485894T>C | CA405654265 | RYR1 | c.5239T>C (p.Phe1747Leu) c.5236T>C (p.Phe1746Leu) n.5322T>C | gnomAD v4 |
| 19 | g.38485894T>G | CA405654267 | RYR1 | c.5239T>G (p.Phe1747Val) c.5236T>G (p.Phe1746Val) n.5322T>G | |
| 19 | g.38485895T>A | CA405654270 | RYR1 | c.5240T>A (p.Phe1747Tyr) c.5237T>A (p.Phe1746Tyr) n.5323T>A | |
| 19 | g.38485895T>C | CA405654269 | RYR1 | c.5240T>C (p.Phe1747Ser) c.5237T>C (p.Phe1746Ser) n.5323T>C | gnomAD v4 |
| 19 | g.38485895T>G | CA405654268 | RYR1 | c.5240T>G (p.Phe1747Cys) c.5237T>G (p.Phe1746Cys) n.5323T>G | |
| 19 | g.38485896C>A | CA405654273 | RYR1 | c.5241C>A (p.Phe1747Leu) c.5238C>A (p.Phe1746Leu) n.5324C>A | |
| 19 | g.38485896C>G | CA405654272 | RYR1 | c.5241C>G (p.Phe1747Leu) c.5238C>G (p.Phe1746Leu) n.5324C>G | |
| 19 | g.38485896C>T | CA081741 | RYR1 | c.5241C>T (p.Phe1747=) c.5238C>T (p.Phe1746=) n.5324C>T | gnomAD v4 COSMIC |
| 19 | g.38485897C>A | CA405654275 | RYR1 | c.5242C>A (p.Pro1748Thr) c.5239C>A (p.Pro1747Thr) n.5325C>A | |
| 19 | g.38485897C>G | CA405654276 | RYR1 | c.5242C>G (p.Pro1748Ala) c.5239C>G (p.Pro1747Ala) n.5325C>G | |
| 19 | g.38485897C>T | CA405654278 | RYR1 | c.5242C>T (p.Pro1748Ser) c.5239C>T (p.Pro1747Ser) n.5325C>T | ClinVar COSMIC |
| 19 | g.38485898C>A | CA405654280 | RYR1 | c.5243C>A (p.Pro1748His) c.5240C>A (p.Pro1747His) n.5326C>A | dbSNP |
| 19 | g.38485898C= | CA2335046301 | RYR1 | c.5243C= (p.Pro1748=) c.5240C= (p.Pro1747=) n.5326C= | |
| 19 | g.38485898C>G | CA405654281 | RYR1 | c.5243C>G (p.Pro1748Arg) c.5240C>G (p.Pro1747Arg) n.5326C>G | ClinVar |
| 19 | g.38485898C>T | CA405654283 | RYR1 | c.5243C>T (p.Pro1748Leu) c.5240C>T (p.Pro1747Leu) n.5326C>T | dbSNP |
| 19 | g.38485899T>A | CA507353289 | RYR1 | c.5244T>A (p.Pro1748=) c.5241T>A (p.Pro1747=) n.5327T>A | |
| 19 | g.38485899T>C | CA507353290 | RYR1 | c.5244T>C (p.Pro1748=) c.5241T>C (p.Pro1747=) n.5327T>C | |
| 19 | g.38485899T>G | CA507353291 | RYR1 | c.5244T>G (p.Pro1748=) c.5241T>G (p.Pro1747=) n.5327T>G | gnomAD v4 |
| 19 | g.38485900C>A | CA405654284 | RYR1 | c.5245C>A (p.Pro1749Thr) c.5242C>A (p.Pro1748Thr) n.5328C>A | |
| 19 | g.38485900C= | CA2335046302 | RYR1 | c.5245C= (p.Pro1749=) c.5242C= (p.Pro1748=) n.5328C= | |
| 19 | g.38485900C>G | CA405654285 | RYR1 | c.5245C>G (p.Pro1749Ala) c.5242C>G (p.Pro1748Ala) n.5328C>G | |
| 19 | g.38485900C>T | CA405654287 | RYR1 | c.5245C>T (p.Pro1749Ser) c.5242C>T (p.Pro1748Ser) n.5328C>T | dbSNP gnomAD v4 |
| 19 | g.38485901C>A | CA405654288 | RYR1 | c.5246C>A (p.Pro1749His) c.5243C>A (p.Pro1748His) n.5329C>A | |
| 19 | g.38485901C= | CA2335046303 | RYR1 | c.5246C= (p.Pro1749=) c.5243C= (p.Pro1748=) n.5329C= | |
| 19 | g.38485901C>G | CA405654290 | RYR1 | c.5246C>G (p.Pro1749Arg) c.5243C>G (p.Pro1748Arg) n.5329C>G | |
| 19 | g.38485901C>T | CA405654291 | RYR1 | c.5246C>T (p.Pro1749Leu) c.5243C>T (p.Pro1748Leu) n.5329C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485902T>A | CA507353295 | RYR1 | c.5247T>A (p.Pro1749=) c.5244T>A (p.Pro1748=) n.5330T>A | |
| 19 | g.38485902T>C | CA507353296 | RYR1 | c.5247T>C (p.Pro1749=) c.5244T>C (p.Pro1748=) n.5330T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485902T>G | CA507353297 | RYR1 | c.5247T>G (p.Pro1749=) c.5244T>G (p.Pro1748=) n.5330T>G | |
| 19 | g.38485902T= | CA2335046304 | RYR1 | c.5247T= (p.Pro1749=) c.5244T= (p.Pro1748=) n.5330T= | |
| 19 | g.38485903G>A | CA405654296 | RYR1 | c.5248G>A (p.Gly1750Arg) c.5245G>A (p.Gly1749Arg) n.5331G>A | |
| 19 | g.38485903G>C | CA405654293 | RYR1 | c.5248G>C (p.Gly1750Arg) c.5245G>C (p.Gly1749Arg) n.5331G>C | gnomAD v4 |
| 19 | g.38485903G>T | CA405654294 | RYR1 | c.5248G>T (p.Gly1750Ter) c.5245G>T (p.Gly1749Ter) n.5331G>T | |
| 19 | g.38485904G>A | CA405654298 | RYR1 | c.5249G>A (p.Gly1750Glu) c.5246G>A (p.Gly1749Glu) n.5332G>A | |
| 19 | g.38485904G>C | CA405654299 | RYR1 | c.5249G>C (p.Gly1750Ala) c.5246G>C (p.Gly1749Ala) n.5332G>C | |
| 19 | g.38485904G>T | CA405654301 | RYR1 | c.5249G>T (p.Gly1750Val) c.5246G>T (p.Gly1749Val) n.5332G>T | |
| 19 | g.38485905A= | CA2335046305 | RYR1 | c.5250A= (p.Gly1750=) c.5247A= (p.Gly1749=) n.5333A= | |
| 19 | g.38485905A>C | CA507353302 | RYR1 | c.5250A>C (p.Gly1750=) c.5247A>C (p.Gly1749=) n.5333A>C | |
| 19 | g.38485905A>G | CA066800 | RYR1 | c.5250A>G (p.Gly1750=) c.5247A>G (p.Gly1749=) n.5333A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485905A>T | CA507353303 | RYR1 | c.5250A>T (p.Gly1750=) c.5247A>T (p.Gly1749=) n.5333A>T | |
| 19 | g.38485906A= | CA2335046306 | RYR1 | c.5251A= (p.Arg1751=) c.5248A= (p.Arg1750=) n.5334A= | |
| 19 | g.38485906A>C | CA507353305 | RYR1 | c.5251A>C (p.Arg1751=) c.5248A>C (p.Arg1750=) n.5334A>C | |
| 19 | g.38485906A>G | CA066804 | RYR1 | c.5251A>G (p.Arg1751Gly) c.5248A>G (p.Arg1750Gly) n.5334A>G | dbSNP ExAC gnomAD v4 |
| 19 | g.38485906A>T | CA405654303 | RYR1 | c.5251A>T (p.Arg1751Trp) c.5248A>T (p.Arg1750Trp) n.5334A>T | |
| 19 | g.38485907G>A | CA405654305 | RYR1 | c.5252G>A (p.Arg1751Lys) c.5249G>A (p.Arg1750Lys) n.5335G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485907G>C | CA405654306 | RYR1 | c.5252G>C (p.Arg1751Thr) c.5249G>C (p.Arg1750Thr) n.5335G>C | |
| 19 | g.38485907G= | CA2335046307 | RYR1 | c.5252G= (p.Arg1751=) c.5249G= (p.Arg1750=) n.5335G= | |
| 19 | g.38485907G>T | CA405654307 | RYR1 | c.5252G>T (p.Arg1751Met) c.5249G>T (p.Arg1750Met) n.5335G>T | |
| 19 | g.38485908G>A | CA066808 | RYR1 | c.5253G>A (p.Arg1751=) c.5250G>A (p.Arg1750=) n.5336G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485908G>C | CA405654309 | RYR1 | c.5253G>C (p.Arg1751Ser) c.5250G>C (p.Arg1750Ser) n.5336G>C | |
| 19 | g.38485908G= | CA2335046308 | RYR1 | c.5253G= (p.Arg1751=) c.5250G= (p.Arg1750=) n.5336G= | |
| 19 | g.38485908G>T | CA405654311 | RYR1 | c.5253G>T (p.Arg1751Ser) c.5250G>T (p.Arg1750Ser) n.5336G>T | |
| 19 | g.38485909A= | CA2335046309 | RYR1 | c.5254A= (p.Ser1752=) c.5251A= (p.Ser1751=) n.5337A= | |
| 19 | g.38485909A>C | CA405654314 | RYR1 | c.5254A>C (p.Ser1752Arg) c.5251A>C (p.Ser1751Arg) n.5337A>C | |
| 19 | g.38485909A>G | CA066812 | RYR1 | c.5254A>G (p.Ser1752Gly) c.5251A>G (p.Ser1751Gly) n.5337A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485909A>T | CA405654313 | RYR1 | c.5254A>T (p.Ser1752Cys) c.5251A>T (p.Ser1751Cys) n.5337A>T | |
| 19 | g.38485910G>A | CA066816 | RYR1 | c.5255G>A (p.Ser1752Asn) c.5252G>A (p.Ser1751Asn) n.5338G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485910G>C | CA405654319 | RYR1 | c.5255G>C (p.Ser1752Thr) c.5252G>C (p.Ser1751Thr) n.5338G>C | |
| 19 | g.38485910G= | CA2335046310 | RYR1 | c.5255G= (p.Ser1752=) c.5252G= (p.Ser1751=) n.5338G= | |
| 19 | g.38485910G>T | CA405654317 | RYR1 | c.5255G>T (p.Ser1752Ile) c.5252G>T (p.Ser1751Ile) n.5338G>T | gnomAD v4 |
| 19 | g.38485911C>A | CA405654320 | RYR1 | c.5256C>A (p.Ser1752Arg) c.5253C>A (p.Ser1751Arg) n.5339C>A | ClinVar |
| 19 | g.38485911C= | CA2335046311 | RYR1 | c.5256C= (p.Ser1752=) c.5253C= (p.Ser1751=) n.5339C= | |
| 19 | g.38485911C>G | CA405654322 | RYR1 | c.5256C>G (p.Ser1752Arg) c.5253C>G (p.Ser1751Arg) n.5339C>G | |
| 19 | g.38485911C>T | CA507353313 | RYR1 | c.5256C>T (p.Ser1752=) c.5253C>T (p.Ser1751=) n.5339C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485912A= | CA2335046312 | RYR1 | c.5257A= (p.Thr1753=) c.5254A= (p.Thr1752=) n.5340A= | |
| 19 | g.38485912A>C | CA405654324 | RYR1 | c.5257A>C (p.Thr1753Pro) c.5254A>C (p.Thr1752Pro) n.5340A>C | |
| 19 | g.38485912A>G | CA081744 | RYR1 | c.5257A>G (p.Thr1753Ala) c.5254A>G (p.Thr1752Ala) n.5340A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485912A>T | CA405654326 | RYR1 | c.5257A>T (p.Thr1753Ser) c.5254A>T (p.Thr1752Ser) n.5340A>T | |
| 19 | g.38485913C>A | CA405654328 | RYR1 | c.5258C>A (p.Thr1753Lys) c.5255C>A (p.Thr1752Lys) n.5341C>A | gnomAD v4 |
| 19 | g.38485913C= | CA2335046313 | RYR1 | c.5258C= (p.Thr1753=) c.5255C= (p.Thr1752=) n.5341C= | |
| 19 | g.38485913C>G | CA405654330 | RYR1 | c.5258C>G (p.Thr1753Arg) c.5255C>G (p.Thr1752Arg) n.5341C>G | |
| 19 | g.38485913C>T | CA308093442 | RYR1 | c.5258C>T (p.Thr1753Ile) c.5255C>T (p.Thr1752Ile) n.5341C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485914A>C | CA507353321 | RYR1 | c.5259A>C (p.Thr1753=) c.5256A>C (p.Thr1752=) n.5342A>C | |
| 19 | g.38485914A>G | CA507353320 | RYR1 | c.5259A>G (p.Thr1753=) c.5256A>G (p.Thr1752=) n.5342A>G | gnomAD v4 |
| 19 | g.38485914A>T | CA507353318 | RYR1 | c.5259A>T (p.Thr1753=) c.5256A>T (p.Thr1752=) n.5342A>T | |
| 19 | g.38485915G>A | CA405654332 | RYR1 | c.5260G>A (p.Glu1754Lys) c.5257G>A (p.Glu1753Lys) n.5343G>A | |
| 19 | g.38485915G>C | CA405654333 | RYR1 | c.5260G>C (p.Glu1754Gln) c.5257G>C (p.Glu1753Gln) n.5343G>C | |
| 19 | g.38485915G>T | CA405654334 | RYR1 | c.5260G>T (p.Glu1754Ter) c.5257G>T (p.Glu1753Ter) n.5343G>T | gnomAD v4 |
| 19 | g.38485916A= | CA2335046314 | RYR1 | c.5261A= (p.Glu1754=) c.5258A= (p.Glu1753=) n.5344A= | |
| 19 | g.38485916A>C | CA308093443 | RYR1 | c.5261A>C (p.Glu1754Ala) c.5258A>C (p.Glu1753Ala) n.5344A>C | dbSNP |
| 19 | g.38485916A>G | CA405654335 | RYR1 | c.5261A>G (p.Glu1754Gly) c.5258A>G (p.Glu1753Gly) n.5344A>G | |
| 19 | g.38485916A>T | CA405654337 | RYR1 | c.5261A>T (p.Glu1754Val) c.5258A>T (p.Glu1753Val) n.5344A>T | |
| 19 | g.38485917A>C | CA405654339 | RYR1 | c.5262A>C (p.Glu1754Asp) c.5259A>C (p.Glu1753Asp) n.5345A>C | |
| 19 | g.38485917A>G | CA507353326 | RYR1 | c.5262A>G (p.Glu1754=) c.5259A>G (p.Glu1753=) n.5345A>G | |
| 19 | g.38485917A>T | CA405654341 | RYR1 | c.5262A>T (p.Glu1754Asp) c.5259A>T (p.Glu1753Asp) n.5345A>T | |
| 19 | g.38485918_38485925dup | CA882053917 | RYR1 | c.5263_5270dup (p.His1757GlnfsTer18) c.5260_5267dup (p.His1756GlnfsTer18) n.5346_5353dup | dbSNP gnomAD v3 gnomAD v4 |