| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38485738C>A | CA405653689 | RYR1 | c.5083C>A (p.His1695Asn) c.5080C>A (p.His1694Asn) n.5166C>A | |
| 19 | g.38485738C>G | CA405653692 | RYR1 | c.5083C>G (p.His1695Asp) c.5080C>G (p.His1694Asp) n.5166C>G | |
| 19 | g.38485738C>T | CA405653694 | RYR1 | c.5083C>T (p.His1695Tyr) c.5080C>T (p.His1694Tyr) n.5166C>T | dbSNP gnomAD v4 |
| 19 | g.38485739A= | CA2335046222 | RYR1 | c.5084A= (p.His1695=) c.5081A= (p.His1694=) n.5167A= | |
| 19 | g.38485739A>C | CA405653695 | RYR1 | c.5084A>C (p.His1695Pro) c.5081A>C (p.His1694Pro) n.5167A>C | |
| 19 | g.38485739A>G | CA405653696 | RYR1 | c.5084A>G (p.His1695Arg) c.5081A>G (p.His1694Arg) n.5167A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485739A>T | CA405653697 | RYR1 | c.5084A>T (p.His1695Leu) c.5081A>T (p.His1694Leu) n.5167A>T | |
| 19 | g.38485740C>A | CA405653698 | RYR1 | c.5085C>A (p.His1695Gln) c.5082C>A (p.His1694Gln) n.5168C>A | |
| 19 | g.38485740C= | CA2335046224 | RYR1 | c.5085C= (p.His1695=) c.5082C= (p.His1694=) n.5168C= | |
| 19 | g.38485740C>G | CA405653700 | RYR1 | c.5085C>G (p.His1695Gln) c.5082C>G (p.His1694Gln) n.5168C>G | |
| 19 | g.38485740C>T | CA066661 | RYR1 | c.5085C>T (p.His1695=) c.5082C>T (p.His1694=) n.5168C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485741G>A | CA405653701 | RYR1 | c.5086G>A (p.Ala1696Thr) c.5083G>A (p.Ala1695Thr) n.5169G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485741G>C | CA405653702 | RYR1 | c.5086G>C (p.Ala1696Pro) c.5083G>C (p.Ala1695Pro) n.5169G>C | |
| 19 | g.38485741G= | CA2335046225 | RYR1 | c.5086G= (p.Ala1696=) c.5083G= (p.Ala1695=) n.5169G= | |
| 19 | g.38485741G>T | CA405653703 | RYR1 | c.5086G>T (p.Ala1696Ser) c.5083G>T (p.Ala1695Ser) n.5169G>T | gnomAD v4 |
| 19 | g.38485742C>A | CA405653709 | RYR1 | c.5087C>A (p.Ala1696Asp) c.5084C>A (p.Ala1695Asp) n.5170C>A | |
| 19 | g.38485742C>G | CA405653711 | RYR1 | c.5087C>G (p.Ala1696Gly) c.5084C>G (p.Ala1695Gly) n.5170C>G | |
| 19 | g.38485742C>T | CA405653706 | RYR1 | c.5087C>T (p.Ala1696Val) c.5084C>T (p.Ala1695Val) n.5170C>T | gnomAD v4 |
| 19 | g.38485743C>A | CA507238662 | RYR1 | c.5088C>A (p.Ala1696=) c.5085C>A (p.Ala1695=) n.5171C>A | |
| 19 | g.38485743C>G | CA507238663 | RYR1 | c.5088C>G (p.Ala1696=) c.5085C>G (p.Ala1695=) n.5171C>G | gnomAD v4 |
| 19 | g.38485743C>T | CA081706 | RYR1 | c.5088C>T (p.Ala1696=) c.5085C>T (p.Ala1695=) n.5171C>T | |
| 19 | g.38485744C>A | CA405653716 | RYR1 | c.5089C>A (p.Leu1697Met) c.5086C>A (p.Leu1696Met) n.5172C>A | |
| 19 | g.38485744C>G | CA405653714 | RYR1 | c.5089C>G (p.Leu1697Val) c.5086C>G (p.Leu1696Val) n.5172C>G | |
| 19 | g.38485744C>T | CA507238665 | RYR1 | c.5089C>T (p.Leu1697=) c.5086C>T (p.Leu1696=) n.5172C>T | ClinVar |
| 19 | g.38485745T>A | CA405653717 | RYR1 | c.5090T>A (p.Leu1697Gln) c.5087T>A (p.Leu1696Gln) n.5173T>A | |
| 19 | g.38485745T>C | CA405653719 | RYR1 | c.5090T>C (p.Leu1697Pro) c.5087T>C (p.Leu1696Pro) n.5173T>C | |
| 19 | g.38485745T>G | CA405653723 | RYR1 | c.5090T>G (p.Leu1697Arg) c.5087T>G (p.Leu1696Arg) n.5173T>G | |
| 19 | g.38485746G>A | CA507238666 | RYR1 | c.5091G>A (p.Leu1697=) c.5088G>A (p.Leu1696=) n.5174G>A | gnomAD v4 |
| 19 | g.38485746G>C | CA507238667 | RYR1 | c.5091G>C (p.Leu1697=) c.5088G>C (p.Leu1696=) n.5174G>C | |
| 19 | g.38485746G>T | CA507238668 | RYR1 | c.5091G>T (p.Leu1697=) c.5088G>T (p.Leu1696=) n.5174G>T | gnomAD v4 |
| 19 | g.38485747G>A | CA066664 | RYR1 | c.5092G>A (p.Glu1698Lys) c.5089G>A (p.Glu1697Lys) n.5175G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485747G>C | CA405653725 | RYR1 | c.5092G>C (p.Glu1698Gln) c.5089G>C (p.Glu1697Gln) n.5175G>C | |
| 19 | g.38485747G= | CA2335046228 | RYR1 | c.5092G= (p.Glu1698=) c.5089G= (p.Glu1697=) n.5175G= | |
| 19 | g.38485747G>T | CA405653726 | RYR1 | c.5092G>T (p.Glu1698Ter) c.5089G>T (p.Glu1697Ter) n.5175G>T | gnomAD v4 |
| 19 | g.38485748A>C | CA405653727 | RYR1 | c.5093A>C (p.Glu1698Ala) c.5090A>C (p.Glu1697Ala) n.5176A>C | |
| 19 | g.38485748A>G | CA405653728 | RYR1 | c.5093A>G (p.Glu1698Gly) c.5090A>G (p.Glu1697Gly) n.5176A>G | |
| 19 | g.38485748A>T | CA405653729 | RYR1 | c.5093A>T (p.Glu1698Val) c.5090A>T (p.Glu1697Val) n.5176A>T | |
| 19 | g.38485749G>A | CA507238670 | RYR1 | c.5094G>A (p.Glu1698=) c.5091G>A (p.Glu1697=) n.5177G>A | |
| 19 | g.38485749G>C | CA405653730 | RYR1 | c.5094G>C (p.Glu1698Asp) c.5091G>C (p.Glu1697Asp) n.5177G>C | |
| 19 | g.38485749G>T | CA405653732 | RYR1 | c.5094G>T (p.Glu1698Asp) c.5091G>T (p.Glu1697Asp) n.5177G>T | |
| 19 | g.38485750G>A | CA081707 | RYR1 | c.5095G>A (p.Asp1699Asn) c.5092G>A (p.Asp1698Asn) n.5178G>A | COSMIC |
| 19 | g.38485750G>C | CA405653741 | RYR1 | c.5095G>C (p.Asp1699His) c.5092G>C (p.Asp1698His) n.5178G>C | |
| 19 | g.38485750G= | CA2335046230 | RYR1 | c.5095G= (p.Asp1699=) c.5092G= (p.Asp1698=) n.5178G= | |
| 19 | g.38485750G>T | CA405653735 | RYR1 | c.5095G>T (p.Asp1699Tyr) c.5092G>T (p.Asp1698Tyr) n.5178G>T | dbSNP gnomAD v4 |
| 19 | g.38485751A= | CA2335046232 | RYR1 | c.5096A= (p.Asp1699=) c.5093A= (p.Asp1698=) n.5179A= | |
| 19 | g.38485751A>C | CA405653747 | RYR1 | c.5096A>C (p.Asp1699Ala) c.5093A>C (p.Asp1698Ala) n.5179A>C | |
| 19 | g.38485751A>G | CA405653750 | RYR1 | c.5096A>G (p.Asp1699Gly) c.5093A>G (p.Asp1698Gly) n.5179A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485751A>T | CA308093058 | RYR1 | c.5096A>T (p.Asp1699Val) c.5093A>T (p.Asp1698Val) n.5179A>T | dbSNP |
| 19 | g.38485751_38485752delinsGA | CA2697556499 | RYR1 | c.5096_5097delinsGA (p.Asp1699Gly) c.5093_5094delinsGA (p.Asp1698Gly) n.5179_5180delinsGA | ClinVar |
| 19 | g.38485752C>A | CA405653752 | RYR1 | c.5097C>A (p.Asp1699Glu) c.5094C>A (p.Asp1698Glu) n.5180C>A | gnomAD v4 |