| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 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 |