| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38485982A>C | CA405654701 | RYR1 | c.5327A>C (p.His1776Pro) c.5324A>C (p.His1775Pro) n.5410A>C | |
| 19 | g.38485982A>G | CA081761 | RYR1 | c.5327A>G (p.His1776Arg) c.5324A>G (p.His1775Arg) n.5410A>G | |
| 19 | g.38485982A>T | CA405654704 | RYR1 | c.5327A>T (p.His1776Leu) c.5324A>T (p.His1775Leu) n.5410A>T | |
| 19 | g.38485983T>A | CA405654707 | RYR1 | c.5328T>A (p.His1776Gln) c.5325T>A (p.His1775Gln) n.5411T>A | |
| 19 | g.38485983T>C | CA507353391 | RYR1 | c.5328T>C (p.His1776=) c.5325T>C (p.His1775=) n.5411T>C | |
| 19 | g.38485983T>G | CA405654710 | RYR1 | c.5328T>G (p.His1776Gln) c.5325T>G (p.His1775Gln) n.5411T>G | |
| 19 | g.38485984T>A | CA405654713 | RYR1 | c.5329T>A (p.Phe1777Ile) c.5326T>A (p.Phe1776Ile) n.5412T>A | |
| 19 | g.38485984T>C | CA405654715 | RYR1 | c.5329T>C (p.Phe1777Leu) c.5326T>C (p.Phe1776Leu) n.5412T>C | |
| 19 | g.38485984T>G | CA405654717 | RYR1 | c.5329T>G (p.Phe1777Val) c.5326T>G (p.Phe1776Val) n.5412T>G | |
| 19 | g.38485985T>A | CA405654723 | RYR1 | c.5330T>A (p.Phe1777Tyr) c.5327T>A (p.Phe1776Tyr) n.5413T>A | |
| 19 | g.38485985T>C | CA405654720 | RYR1 | c.5330T>C (p.Phe1777Ser) c.5327T>C (p.Phe1776Ser) n.5413T>C | COSMIC |
| 19 | g.38485985T>G | CA405654718 | RYR1 | c.5330T>G (p.Phe1777Cys) c.5327T>G (p.Phe1776Cys) n.5413T>G | dbSNP |
| 19 | g.38485985T= | CA2335046347 | RYR1 | c.5330T= (p.Phe1777=) c.5327T= (p.Phe1776=) n.5413T= | |
| 19 | g.38485986C>A | CA405654725 | RYR1 | c.5331C>A (p.Phe1777Leu) c.5328C>A (p.Phe1776Leu) n.5414C>A | |
| 19 | g.38485986C= | CA2335046348 | RYR1 | c.5331C= (p.Phe1777=) c.5328C= (p.Phe1776=) n.5414C= | |
| 19 | g.38485986C>G | CA405654726 | RYR1 | c.5331C>G (p.Phe1777Leu) c.5328C>G (p.Phe1776Leu) n.5414C>G | |
| 19 | g.38485986C>T | CA507353392 | RYR1 | c.5331C>T (p.Phe1777=) c.5328C>T (p.Phe1776=) n.5414C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485987T>A | CA405654727 | RYR1 | c.5332T>A (p.Ser1778Thr) c.5329T>A (p.Ser1777Thr) n.5415T>A | |
| 19 | g.38485987T>C | CA405654728 | RYR1 | c.5332T>C (p.Ser1778Pro) c.5329T>C (p.Ser1777Pro) n.5415T>C | |
| 19 | g.38485987T>G | CA405654730 | RYR1 | c.5332T>G (p.Ser1778Ala) c.5329T>G (p.Ser1777Ala) n.5415T>G | |
| 19 | g.38485988C>A | CA024506 | RYR1 | c.5333C>A (p.Ser1778Ter) c.5330C>A (p.Ser1777Ter) n.5416C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.38485988C= | CA2335046349 | RYR1 | c.5333C= (p.Ser1778=) c.5330C= (p.Ser1777=) n.5416C= | |
| 19 | g.38485988C>G | CA405654733 | RYR1 | c.5333C>G (p.Ser1778Trp) c.5330C>G (p.Ser1777Trp) n.5416C>G | |
| 19 | g.38485988C>T | CA066890 | RYR1 | c.5333C>T (p.Ser1778Leu) c.5330C>T (p.Ser1777Leu) n.5416C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38485989G>A | CA066894 | RYR1 | c.5334G>A (p.Ser1778=) c.5331G>A (p.Ser1777=) n.5417G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485989G>C | CA507353393 | RYR1 | c.5334G>C (p.Ser1778=) c.5331G>C (p.Ser1777=) n.5417G>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38485989G= | CA2335046350 | RYR1 | c.5334G= (p.Ser1778=) c.5331G= (p.Ser1777=) n.5417G= | |
| 19 | g.38485989G>T | CA024509 | RYR1 | c.5334G>T (p.Ser1778=) c.5331G>T (p.Ser1777=) n.5417G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485990C>A | CA405654738 | RYR1 | c.5335C>A (p.Pro1779Thr) c.5332C>A (p.Pro1778Thr) n.5418C>A | |
| 19 | g.38485990C= | CA2335046351 | RYR1 | c.5335C= (p.Pro1779=) c.5332C= (p.Pro1778=) n.5418C= | |
| 19 | g.38485990C>G | CA405654740 | RYR1 | c.5335C>G (p.Pro1779Ala) c.5332C>G (p.Pro1778Ala) n.5418C>G | COSMIC |
| 19 | g.38485990C>T | CA066902 | RYR1 | c.5335C>T (p.Pro1779Ser) c.5332C>T (p.Pro1778Ser) n.5418C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38485995dup | CA633066093 | RYR1 | c.5340dup (p.Cys1781LeufsTer?) c.5337dup (p.Cys1780LeufsTer?) n.5423dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485995del | CA2825002783 | RYR1 | c.5340del (p.Cys1781ValfsTer?) c.5337del (p.Cys1780ValfsTer?) n.5423del | ClinVar |
| 19 | g.38485991C>A | CA066907 | RYR1 | c.5336C>A (p.Pro1779His) c.5333C>A (p.Pro1778His) n.5419C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485991C= | CA2335046352 | RYR1 | c.5336C= (p.Pro1779=) c.5333C= (p.Pro1778=) n.5419C= | |
| 19 | g.38485991C>G | CA405654744 | RYR1 | c.5336C>G (p.Pro1779Arg) c.5333C>G (p.Pro1778Arg) n.5419C>G | |
| 19 | g.38485991C>T | CA024511 | RYR1 | c.5336C>T (p.Pro1779Leu) c.5333C>T (p.Pro1778Leu) n.5419C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485992C>A | CA507353394 | RYR1 | c.5337C>A (p.Pro1779=) c.5334C>A (p.Pro1778=) n.5420C>A | |
| 19 | g.38485992C>G | CA507353395 | RYR1 | c.5337C>G (p.Pro1779=) c.5334C>G (p.Pro1778=) n.5420C>G | ClinVar |
| 19 | g.38485992C>T | CA507353396 | RYR1 | c.5337C>T (p.Pro1779=) c.5334C>T (p.Pro1778=) n.5420C>T | |
| 19 | g.38485993C>A | CA405654747 | RYR1 | c.5338C>A (p.Pro1780Thr) c.5335C>A (p.Pro1779Thr) n.5421C>A | dbSNP |
| 19 | g.38485993C= | CA2335046353 | RYR1 | c.5338C= (p.Pro1780=) c.5335C= (p.Pro1779=) n.5421C= | |
| 19 | g.38485993C>G | CA405654749 | RYR1 | c.5338C>G (p.Pro1780Ala) c.5335C>G (p.Pro1779Ala) n.5421C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485993C>T | CA081764 | RYR1 | c.5338C>T (p.Pro1780Ser) c.5335C>T (p.Pro1779Ser) n.5421C>T | gnomAD v4 COSMIC |
| 19 | g.38485994C>A | CA081765 | RYR1 | c.5339C>A (p.Pro1780His) c.5336C>A (p.Pro1779His) n.5422C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485994C= | CA2335046354 | RYR1 | c.5339C= (p.Pro1780=) c.5336C= (p.Pro1779=) n.5422C= | |
| 19 | g.38485994C>G | CA9415807 | RYR1 | c.5339C>G (p.Pro1780Arg) c.5336C>G (p.Pro1779Arg) n.5422C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485994C>T | CA9415808 | RYR1 | c.5339C>T (p.Pro1780Leu) c.5336C>T (p.Pro1779Leu) n.5422C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38485994_38485996delinsCCT | CA2335046355 | RYR1 | c.5339_5341delinsCCT (p.Pro1780=) c.5336_5338delinsCCT (p.Pro1779=) n.5422_5424delinsCCT | |
| 19 | g.38485995C>A | CA507353397 | RYR1 | c.5340C>A (p.Pro1780=) c.5337C>A (p.Pro1779=) n.5423C>A | gnomAD v4 |
| 19 | g.38485995C>G | CA507353398 | RYR1 | c.5340C>G (p.Pro1780=) c.5337C>G (p.Pro1779=) n.5423C>G | |
| 19 | g.38485995C>T | CA507353399 | RYR1 | c.5340C>T (p.Pro1780=) c.5337C>T (p.Pro1779=) n.5423C>T | |
| 19 | g.38485995_38485996del | CA9415809 | RYR1 | c.5340_5341del (p.Cys1781PhefsTer?) c.5337_5338del (p.Cys1780PhefsTer?) n.5423_5424del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485996T>A | CA405654757 | RYR1 | c.5341T>A (p.Cys1781Ser) c.5338T>A (p.Cys1780Ser) n.5424T>A | |
| 19 | g.38485996T>C | CA066926 | RYR1 | c.5341T>C (p.Cys1781Arg) c.5338T>C (p.Cys1780Arg) n.5424T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38485996T>G | CA405654756 | RYR1 | c.5341T>G (p.Cys1781Gly) c.5338T>G (p.Cys1780Gly) n.5424T>G | |
| 19 | g.38485996T= | CA2335046356 | RYR1 | c.5341T= (p.Cys1781=) c.5338T= (p.Cys1780=) n.5424T= | |
| 19 | g.38485997_38485999del | CA081766 | RYR1 | c.5342_5344del (p.Cys1781del) c.5339_5341del (p.Cys1780del) n.5425_5427del | |
| 19 | g.38485997G>A | CA405654759 | RYR1 | c.5342G>A (p.Cys1781Tyr) c.5339G>A (p.Cys1780Tyr) n.5425G>A | |
| 19 | g.38485997G>C | CA405654761 | RYR1 | c.5342G>C (p.Cys1781Ser) c.5339G>C (p.Cys1780Ser) n.5425G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38485997G= | CA2335046357 | RYR1 | c.5342G= (p.Cys1781=) c.5339G= (p.Cys1780=) n.5425G= | |
| 19 | g.38485997G>T | CA405654762 | RYR1 | c.5342G>T (p.Cys1781Phe) c.5339G>T (p.Cys1780Phe) n.5425G>T | |
| 19 | g.38485998T>A | CA405654765 | RYR1 | c.5343T>A (p.Cys1781Ter) c.5340T>A (p.Cys1780Ter) n.5426T>A | |
| 19 | g.38485998T>C | CA507353400 | RYR1 | c.5343T>C (p.Cys1781=) c.5340T>C (p.Cys1780=) n.5426T>C | |
| 19 | g.38485998T>G | CA405654766 | RYR1 | c.5343T>G (p.Cys1781Trp) c.5340T>G (p.Cys1780Trp) n.5426T>G | |
| 19 | g.38486000del | CA2695228661 | RYR1 | c.5345del (p.Phe1782SerfsTer?) c.5342del (p.Phe1781SerfsTer?) n.5428del | |
| 19 | g.38485999T>A | CA405654768 | RYR1 | c.5344T>A (p.Phe1782Ile) c.5341T>A (p.Phe1781Ile) n.5427T>A | |
| 19 | g.38485999T>C | CA081770 | RYR1 | c.5344T>C (p.Phe1782Leu) c.5341T>C (p.Phe1781Leu) n.5427T>C | |
| 19 | g.38485999T>G | CA405654769 | RYR1 | c.5344T>G (p.Phe1782Val) c.5341T>G (p.Phe1781Val) n.5427T>G | |
| 19 | g.38486000T>A | CA405654771 | RYR1 | c.5345T>A (p.Phe1782Tyr) c.5342T>A (p.Phe1781Tyr) n.5428T>A | |
| 19 | g.38486000T>C | CA405654772 | RYR1 | c.5345T>C (p.Phe1782Ser) c.5342T>C (p.Phe1781Ser) n.5428T>C | gnomAD v4 |
| 19 | g.38486000T>G | CA405654774 | RYR1 | c.5345T>G (p.Phe1782Cys) c.5342T>G (p.Phe1781Cys) n.5428T>G | |
| 19 | g.38486001C>A | CA405654777 | RYR1 | c.5346C>A (p.Phe1782Leu) c.5343C>A (p.Phe1781Leu) n.5429C>A | |
| 19 | g.38486001C= | CA2335046358 | RYR1 | c.5346C= (p.Phe1782=) c.5343C= (p.Phe1781=) n.5429C= | |
| 19 | g.38486001C>G | CA405654780 | RYR1 | c.5346C>G (p.Phe1782Leu) c.5343C>G (p.Phe1781Leu) n.5429C>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38486001C>T | CA066930 | RYR1 | c.5346C>T (p.Phe1782=) c.5343C>T (p.Phe1781=) n.5429C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38486002G>A | CA066934 | RYR1 | c.5347G>A (p.Val1783Met) c.5344G>A (p.Val1782Met) n.5430G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38486002G>C | CA405654783 | RYR1 | c.5347G>C (p.Val1783Leu) c.5344G>C (p.Val1782Leu) n.5430G>C | |
| 19 | g.38486002G= | CA2335046359 | RYR1 | c.5347G= (p.Val1783=) c.5344G= (p.Val1782=) n.5430G= | |
| 19 | g.38486002G>T | CA066937 | RYR1 | c.5347G>T (p.Val1783Leu) c.5344G>T (p.Val1782Leu) n.5430G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38486003T>A | CA405654787 | RYR1 | c.5348T>A (p.Val1783Glu) c.5345T>A (p.Val1782Glu) n.5431T>A | |
| 19 | g.38486003T>C | CA405654788 | RYR1 | c.5348T>C (p.Val1783Ala) c.5345T>C (p.Val1782Ala) n.5431T>C | |
| 19 | g.38486003T>G | CA405654790 | RYR1 | c.5348T>G (p.Val1783Gly) c.5345T>G (p.Val1782Gly) n.5431T>G | |
| 19 | g.38486004G>A | CA507353405 | RYR1 | c.5349G>A (p.Val1783=) c.5346G>A (p.Val1782=) n.5432G>A | |
| 19 | g.38486004G>C | CA507353406 | RYR1 | c.5349G>C (p.Val1783=) c.5346G>C (p.Val1782=) n.5432G>C | |
| 19 | g.38486004G>T | CA507353407 | RYR1 | c.5349G>T (p.Val1783=) c.5346G>T (p.Val1782=) n.5432G>T | |
| 19 | g.38486005G>A | CA081772 | RYR1 | c.5350G>A (p.Ala1784Thr) c.5347G>A (p.Ala1783Thr) n.5433G>A | |
| 19 | g.38486005G>C | CA405654794 | RYR1 | c.5350G>C (p.Ala1784Pro) c.5347G>C (p.Ala1783Pro) n.5433G>C | |
| 19 | g.38486005G>T | CA081773 | RYR1 | c.5350G>T (p.Ala1784Ser) c.5347G>T (p.Ala1783Ser) n.5433G>T | |
| 19 | g.38486006C>A | CA066942 | RYR1 | c.5351C>A (p.Ala1784Asp) c.5348C>A (p.Ala1783Asp) n.5434C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486006C= | CA2335046360 | RYR1 | c.5351C= (p.Ala1784=) c.5348C= (p.Ala1783=) n.5434C= | |
| 19 | g.38486006C>G | CA405654797 | RYR1 | c.5351C>G (p.Ala1784Gly) c.5348C>G (p.Ala1783Gly) n.5434C>G | gnomAD v4 |
| 19 | g.38486006C>T | CA405654796 | RYR1 | c.5351C>T (p.Ala1784Val) c.5348C>T (p.Ala1783Val) n.5434C>T | gnomAD v4 |
| 19 | g.38486007C>A | CA308093729 | RYR1 | c.5352C>A (p.Ala1784=) c.5349C>A (p.Ala1783=) n.5435C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486007C= | CA2335046361 | RYR1 | c.5352C= (p.Ala1784=) c.5349C= (p.Ala1783=) n.5435C= | |
| 19 | g.38486007C>G | CA507353408 | RYR1 | c.5352C>G (p.Ala1784=) c.5349C>G (p.Ala1783=) n.5435C>G | |
| 19 | g.38486007C>T | CA507353409 | RYR1 | c.5352C>T (p.Ala1784=) c.5349C>T (p.Ala1783=) n.5435C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38486008G>A | CA405654799 | RYR1 | c.5353G>A (p.Ala1785Thr) c.5350G>A (p.Ala1784Thr) n.5436G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38486008G>C | CA308093731 | RYR1 | c.5353G>C (p.Ala1785Pro) c.5350G>C (p.Ala1784Pro) n.5436G>C | dbSNP |
| 19 | g.38486008G= | CA2335046362 | RYR1 | c.5353G= (p.Ala1785=) c.5350G= (p.Ala1784=) n.5436G= | |
| 19 | g.38486008G>T | CA405654801 | RYR1 | c.5353G>T (p.Ala1785Ser) c.5350G>T (p.Ala1784Ser) n.5436G>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38486009C>A | CA081774 | RYR1 | c.5354C>A (p.Ala1785Asp) c.5351C>A (p.Ala1784Asp) n.5437C>A | |
| 19 | g.38486009C>G | CA405654805 | RYR1 | c.5354C>G (p.Ala1785Gly) c.5351C>G (p.Ala1784Gly) n.5437C>G | |
| 19 | g.38486009C>T | CA405654808 | RYR1 | c.5354C>T (p.Ala1785Val) c.5351C>T (p.Ala1784Val) n.5437C>T | gnomAD v4 |
| 19 | g.38486010T>A | CA507353411 | RYR1 | c.5355T>A (p.Ala1785=) c.5352T>A (p.Ala1784=) n.5438T>A | |
| 19 | g.38486010T>C | CA507353413 | RYR1 | c.5355T>C (p.Ala1785=) c.5352T>C (p.Ala1784=) n.5438T>C | |
| 19 | g.38486010T>G | CA507353414 | RYR1 | c.5355T>G (p.Ala1785=) c.5352T>G (p.Ala1784=) n.5438T>G | |
| 19 | g.38486011C>A | CA405654811 | RYR1 | c.5356C>A (p.Leu1786Met) c.5353C>A (p.Leu1785Met) n.5439C>A | gnomAD v4 |
| 19 | g.38486011C= | CA2335046363 | RYR1 | c.5356C= (p.Leu1786=) c.5353C= (p.Leu1785=) n.5439C= | |
| 19 | g.38486011C>G | CA405654816 | RYR1 | c.5356C>G (p.Leu1786Val) c.5353C>G (p.Leu1785Val) n.5439C>G | |
| 19 | g.38486011C>T | CA507353416 | RYR1 | c.5356C>T (p.Leu1786=) c.5353C>T (p.Leu1785=) n.5439C>T | dbSNP |
| 19 | g.38486012T>A | CA405654818 | RYR1 | c.5357T>A (p.Leu1786Gln) c.5354T>A (p.Leu1785Gln) n.5440T>A | |
| 19 | g.38486012T>C | CA405654821 | RYR1 | c.5357T>C (p.Leu1786Pro) c.5354T>C (p.Leu1785Pro) n.5440T>C | |
| 19 | g.38486012T>G | CA405654823 | RYR1 | c.5357T>G (p.Leu1786Arg) c.5354T>G (p.Leu1785Arg) n.5440T>G | |
| 19 | g.38486013G>A | CA507353421 | RYR1 | c.5358G>A (p.Leu1786=) c.5355G>A (p.Leu1785=) n.5441G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38486013G>C | CA507353422 | RYR1 | c.5358G>C (p.Leu1786=) c.5355G>C (p.Leu1785=) n.5441G>C | |
| 19 | g.38486013G= | CA2335046364 | RYR1 | c.5358G= (p.Leu1786=) c.5355G= (p.Leu1785=) n.5441G= | |
| 19 | g.38486013G>T | CA507353423 | RYR1 | c.5358G>T (p.Leu1786=) c.5355G>T (p.Leu1785=) n.5441G>T | |
| 19 | g.38486014C>A | CA405654830 | RYR1 | c.5359C>A (p.Pro1787Thr) c.5356C>A (p.Pro1786Thr) n.5442C>A | gnomAD v4 |
| 19 | g.38486014C>G | CA405654826 | RYR1 | c.5359C>G (p.Pro1787Ala) c.5356C>G (p.Pro1786Ala) n.5442C>G | |
| 19 | g.38486014C>T | CA405654829 | RYR1 | c.5359C>T (p.Pro1787Ser) c.5356C>T (p.Pro1786Ser) n.5442C>T | COSMIC |
| 19 | g.38486015C>A | CA405654832 | RYR1 | c.5360C>A (p.Pro1787Gln) c.5357C>A (p.Pro1786Gln) n.5443C>A | |
| 19 | g.38486015C= | CA2335046365 | RYR1 | c.5360C= (p.Pro1787=) c.5357C= (p.Pro1786=) n.5443C= | |
| 19 | g.38486015C>G | CA405654834 | RYR1 | c.5360C>G (p.Pro1787Arg) c.5357C>G (p.Pro1786Arg) n.5443C>G | |
| 19 | g.38486015C>T | CA024515 | RYR1 | c.5360C>T (p.Pro1787Leu) c.5357C>T (p.Pro1786Leu) n.5443C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486016A= | CA2335046366 | RYR1 | c.5361A= (p.Pro1787=) c.5358A= (p.Pro1786=) n.5444A= | |
| 19 | g.38486016A>C | CA507353428 | RYR1 | c.5361A>C (p.Pro1787=) c.5358A>C (p.Pro1786=) n.5444A>C | |
| 19 | g.38486016A>G | CA066948 | RYR1 | c.5361A>G (p.Pro1787=) c.5358A>G (p.Pro1786=) n.5444A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38486016A>T | CA507353427 | RYR1 | c.5361A>T (p.Pro1787=) c.5358A>T (p.Pro1786=) n.5444A>T | |
| 19 | g.38486017G>A | CA405654842 | RYR1 | c.5362G>A (p.Ala1788Thr) c.5359G>A (p.Ala1787Thr) n.5445G>A | |
| 19 | g.38486017G>C | CA405654845 | RYR1 | c.5362G>C (p.Ala1788Pro) c.5359G>C (p.Ala1787Pro) n.5445G>C | |
| 19 | g.38486017G>T | CA405654848 | RYR1 | c.5362G>T (p.Ala1788Ser) c.5359G>T (p.Ala1787Ser) n.5445G>T | gnomAD v4 |
| 19 | g.38486018C>A | CA405654850 | RYR1 | c.5363C>A (p.Ala1788Asp) c.5360C>A (p.Ala1787Asp) n.5446C>A | |
| 19 | g.38486018C>G | CA405654852 | RYR1 | c.5363C>G (p.Ala1788Gly) c.5360C>G (p.Ala1787Gly) n.5446C>G | |
| 19 | g.38486018C>T | CA081775 | RYR1 | c.5363C>T (p.Ala1788Val) c.5360C>T (p.Ala1787Val) n.5446C>T | |
| 19 | g.38486019T>A | CA507353431 | RYR1 | c.5364T>A (p.Ala1788=) c.5361T>A (p.Ala1787=) n.5447T>A | |
| 19 | g.38486019T>C | CA507353430 | RYR1 | c.5364T>C (p.Ala1788=) c.5361T>C (p.Ala1787=) n.5447T>C | |
| 19 | g.38486019T>G | CA024516 | RYR1 | c.5364T>G (p.Ala1788=) c.5361T>G (p.Ala1787=) n.5447T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486019T= | CA2335046367 | RYR1 | c.5364T= (p.Ala1788=) c.5361T= (p.Ala1787=) n.5447T= | |
| 19 | g.38486020G>A | CA066953 | RYR1 | c.5365G>A (p.Ala1789Thr) c.5362G>A (p.Ala1788Thr) n.5448G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486020G>C | CA405654863 | RYR1 | c.5365G>C (p.Ala1789Pro) c.5362G>C (p.Ala1788Pro) n.5448G>C | |
| 19 | g.38486020G= | CA2335046368 | RYR1 | c.5365G= (p.Ala1789=) c.5362G= (p.Ala1788=) n.5448G= | |
| 19 | g.38486020G>T | CA405654856 | RYR1 | c.5365G>T (p.Ala1789Ser) c.5362G>T (p.Ala1788Ser) n.5448G>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38486021C>A | CA405654866 | RYR1 | c.5366C>A (p.Ala1789Asp) c.5363C>A (p.Ala1788Asp) n.5449C>A | |
| 19 | g.38486021C= | CA2335046369 | RYR1 | c.5366C= (p.Ala1789=) c.5363C= (p.Ala1788=) n.5449C= | |
| 19 | g.38486021C>G | CA405654868 | RYR1 | c.5366C>G (p.Ala1789Gly) c.5363C>G (p.Ala1788Gly) n.5449C>G | |
| 19 | g.38486021C>T | CA405654872 | RYR1 | c.5366C>T (p.Ala1789Val) c.5363C>T (p.Ala1788Val) n.5449C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38486022T>A | CA507353432 | RYR1 | c.5367T>A (p.Ala1789=) c.5364T>A (p.Ala1788=) n.5450T>A | |
| 19 | g.38486022T>C | CA507353434 | RYR1 | c.5367T>C (p.Ala1789=) c.5364T>C (p.Ala1788=) n.5450T>C | gnomAD v4 |
| 19 | g.38486022T>G | CA081777 | RYR1 | c.5367T>G (p.Ala1789=) c.5364T>G (p.Ala1788=) n.5450T>G | |
| 19 | g.38486023G>A | CA081778 | RYR1 | c.5368G>A (p.Gly1790Arg) c.5365G>A (p.Gly1789Arg) n.5451G>A | |
| 19 | g.38486023G>C | CA405654874 | RYR1 | c.5368G>C (p.Gly1790Arg) c.5365G>C (p.Gly1789Arg) n.5451G>C | gnomAD v4 |
| 19 | g.38486023G>T | CA405654877 | RYR1 | c.5368G>T (p.Gly1790Trp) c.5365G>T (p.Gly1789Trp) n.5451G>T | |
| 19 | g.38486024G>A | CA308093754 | RYR1 | c.5369G>A (p.Gly1790Glu) c.5366G>A (p.Gly1789Glu) n.5452G>A | dbSNP gnomAD v4 |
| 19 | g.38486024G>C | CA405654882 | RYR1 | c.5369G>C (p.Gly1790Ala) c.5366G>C (p.Gly1789Ala) n.5452G>C | gnomAD v4 |
| 19 | g.38486024G= | CA2335046370 | RYR1 | c.5369G= (p.Gly1790=) c.5366G= (p.Gly1789=) n.5452G= | |
| 19 | g.38486024G>T | CA405654884 | RYR1 | c.5369G>T (p.Gly1790Val) c.5366G>T (p.Gly1789Val) n.5452G>T | dbSNP gnomAD v4 |
| 19 | g.38486025G>A | CA507353440 | RYR1 | c.5370G>A (p.Gly1790=) c.5367G>A (p.Gly1789=) n.5453G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486025G>C | CA507353436 | RYR1 | c.5370G>C (p.Gly1790=) c.5367G>C (p.Gly1789=) n.5453G>C | |
| 19 | g.38486025G= | CA2335046371 | RYR1 | c.5370G= (p.Gly1790=) c.5367G= (p.Gly1789=) n.5453G= | |
| 19 | g.38486025G>T | CA507353438 | RYR1 | c.5370G>T (p.Gly1790=) c.5367G>T (p.Gly1789=) n.5453G>T | |
| 19 | g.38486026G>A | CA405654888 | RYR1 | c.5371G>A (p.Ala1791Thr) c.5368G>A (p.Ala1790Thr) n.5454G>A | gnomAD v4 |
| 19 | g.38486026G>C | CA405654891 | RYR1 | c.5371G>C (p.Ala1791Pro) c.5368G>C (p.Ala1790Pro) n.5454G>C | |
| 19 | g.38486026G>T | CA405654894 | RYR1 | c.5371G>T (p.Ala1791Ser) c.5368G>T (p.Ala1790Ser) n.5454G>T | |
| 19 | g.38486027C>A | CA405654902 | RYR1 | c.5372C>A (p.Ala1791Glu) c.5369C>A (p.Ala1790Glu) n.5455C>A | gnomAD v4 |
| 19 | g.38486027C>G | CA405654901 | RYR1 | c.5372C>G (p.Ala1791Gly) c.5369C>G (p.Ala1790Gly) n.5455C>G | |
| 19 | g.38486027C>T | CA405654898 | RYR1 | c.5372C>T (p.Ala1791Val) c.5369C>T (p.Ala1790Val) n.5455C>T | |
| 19 | g.38486028A>C | CA507353445 | RYR1 | c.5373A>C (p.Ala1791=) c.5370A>C (p.Ala1790=) n.5456A>C | |
| 19 | g.38486028A>G | CA507353447 | RYR1 | c.5373A>G (p.Ala1791=) c.5370A>G (p.Ala1790=) n.5456A>G | |
| 19 | g.38486028A>T | CA507353446 | RYR1 | c.5373A>T (p.Ala1791=) c.5370A>T (p.Ala1790=) n.5456A>T | |
| 19 | g.38486029G>A | CA405654905 | RYR1 | c.5374G>A (p.Ala1792Thr) c.5371G>A (p.Ala1791Thr) n.5457G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38486029G>C | CA405654909 | RYR1 | c.5374G>C (p.Ala1792Pro) c.5371G>C (p.Ala1791Pro) n.5457G>C | dbSNP gnomAD v4 |
| 19 | g.38486029G= | CA2335046372 | RYR1 | c.5374G= (p.Ala1792=) c.5371G= (p.Ala1791=) n.5457G= | |
| 19 | g.38486029G>T | CA405654911 | RYR1 | c.5374G>T (p.Ala1792Ser) c.5371G>T (p.Ala1791Ser) n.5457G>T | |
| 19 | g.38486030C>A | CA405654915 | RYR1 | c.5375C>A (p.Ala1792Glu) c.5372C>A (p.Ala1791Glu) n.5458C>A | |
| 19 | g.38486030C>G | CA405654917 | RYR1 | c.5375C>G (p.Ala1792Gly) c.5372C>G (p.Ala1791Gly) n.5458C>G | |
| 19 | g.38486030C>T | CA405654920 | RYR1 | c.5375C>T (p.Ala1792Val) c.5372C>T (p.Ala1791Val) n.5458C>T | |
| 19 | g.38486031A>C | CA507353448 | RYR1 | c.5376A>C (p.Ala1792=) c.5373A>C (p.Ala1791=) n.5459A>C | |
| 19 | g.38486031A>G | CA507353449 | RYR1 | c.5376A>G (p.Ala1792=) c.5373A>G (p.Ala1791=) n.5459A>G | |
| 19 | g.38486031A>T | CA507353450 | RYR1 | c.5376A>T (p.Ala1792=) c.5373A>T (p.Ala1791=) n.5459A>T | |
| 19 | g.38486032G>A | CA405654924 | RYR1 | c.5377G>A (p.Glu1793Lys) c.5374G>A (p.Glu1792Lys) n.5460G>A | gnomAD v4 |
| 19 | g.38486032G>C | CA405654926 | RYR1 | c.5377G>C (p.Glu1793Gln) c.5374G>C (p.Glu1792Gln) n.5460G>C | dbSNP |
| 19 | g.38486032G>T | CA405654928 | RYR1 | c.5377G>T (p.Glu1793Ter) c.5374G>T (p.Glu1792Ter) n.5460G>T | |
| 19 | g.38486033A>C | CA405654930 | RYR1 | c.5378A>C (p.Glu1793Ala) c.5375A>C (p.Glu1792Ala) n.5461A>C | |
| 19 | g.38486033A>G | CA405654932 | RYR1 | c.5378A>G (p.Glu1793Gly) c.5375A>G (p.Glu1792Gly) n.5461A>G | |
| 19 | g.38486033A>T | CA405654935 | RYR1 | c.5378A>T (p.Glu1793Val) c.5375A>T (p.Glu1792Val) n.5461A>T | |
| 19 | g.38486034G>A | CA507353455 | RYR1 | c.5379G>A (p.Glu1793=) c.5376G>A (p.Glu1792=) n.5462G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486034G>C | CA405654942 | RYR1 | c.5379G>C (p.Glu1793Asp) c.5376G>C (p.Glu1792Asp) n.5462G>C | |
| 19 | g.38486034G= | CA2335046373 | RYR1 | c.5379G= (p.Glu1793=) c.5376G= (p.Glu1792=) n.5462G= | |
| 19 | g.38486034G>T | CA405654946 | RYR1 | c.5379G>T (p.Glu1793Asp) c.5376G>T (p.Glu1792Asp) n.5462G>T | gnomAD v4 |
| 19 | g.38486035G>A | CA405654949 | RYR1 | c.5380G>A (p.Ala1794Thr) c.5377G>A (p.Ala1793Thr) n.5463G>A | COSMIC |
| 19 | g.38486035G>C | CA405654950 | RYR1 | c.5380G>C (p.Ala1794Pro) c.5377G>C (p.Ala1793Pro) n.5463G>C | |
| 19 | g.38486035G>T | CA405654948 | RYR1 | c.5380G>T (p.Ala1794Ser) c.5377G>T (p.Ala1793Ser) n.5463G>T | gnomAD v4 |
| 19 | g.38486036C>A | CA405654952 | RYR1 | c.5381C>A (p.Ala1794Asp) c.5378C>A (p.Ala1793Asp) n.5464C>A | |
| 19 | g.38486036C= | CA2335046374 | RYR1 | c.5381C= (p.Ala1794=) c.5378C= (p.Ala1793=) n.5464C= | |
| 19 | g.38486036C>G | CA405654954 | RYR1 | c.5381C>G (p.Ala1794Gly) c.5378C>G (p.Ala1793Gly) n.5464C>G | gnomAD v4 |
| 19 | g.38486036C>T | CA405654956 | RYR1 | c.5381C>T (p.Ala1794Val) c.5378C>T (p.Ala1793Val) n.5464C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38486039del | CA2584898020 | RYR1 | c.5384del (p.Pro1795ArgfsTer18) c.5381del (p.Pro1794ArgfsTer18) n.5467del | gnomAD v4 |
| 19 | g.38486037C>A | CA507353460 | RYR1 | c.5382C>A (p.Ala1794=) c.5379C>A (p.Ala1793=) n.5465C>A | |
| 19 | g.38486037C= | CA2335046375 | RYR1 | c.5382C= (p.Ala1794=) c.5379C= (p.Ala1793=) n.5465C= | |
| 19 | g.38486037C>G | CA507353461 | RYR1 | c.5382C>G (p.Ala1794=) c.5379C>G (p.Ala1793=) n.5465C>G | |
| 19 | g.38486037C>T | CA507353462 | RYR1 | c.5382C>T (p.Ala1794=) c.5379C>T (p.Ala1793=) n.5465C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38486038C>A | CA405654958 | RYR1 | c.5383C>A (p.Pro1795Thr) c.5380C>A (p.Pro1794Thr) n.5466C>A | gnomAD v4 |
| 19 | g.38486038C= | CA2335046376 | RYR1 | c.5383C= (p.Pro1795=) c.5380C= (p.Pro1794=) n.5466C= | |
| 19 | g.38486038C>G | CA405654960 | RYR1 | c.5383C>G (p.Pro1795Ala) c.5380C>G (p.Pro1794Ala) n.5466C>G | |
| 19 | g.38486038C>T | CA308093764 | RYR1 | c.5383C>T (p.Pro1795Ser) c.5380C>T (p.Pro1794Ser) n.5466C>T | dbSNP |
| 19 | g.38486039C>A | CA405654963 | RYR1 | c.5384C>A (p.Pro1795Gln) c.5381C>A (p.Pro1794Gln) n.5467C>A | |
| 19 | g.38486039C= | CA2335046377 | RYR1 | c.5384C= (p.Pro1795=) c.5381C= (p.Pro1794=) n.5467C= | |
| 19 | g.38486039C>G | CA405654964 | RYR1 | c.5384C>G (p.Pro1795Arg) c.5381C>G (p.Pro1794Arg) n.5467C>G | gnomAD v4 |
| 19 | g.38486039C>T | CA024518 | RYR1 | c.5384C>T (p.Pro1795Leu) c.5381C>T (p.Pro1794Leu) n.5467C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486040G>A | CA507353467 | RYR1 | c.5385G>A (p.Pro1795=) c.5382G>A (p.Pro1794=) n.5468G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486040G>C | CA067063 | RYR1 | c.5385G>C (p.Pro1795=) c.5382G>C (p.Pro1794=) n.5468G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486040G= | CA2335046378 | RYR1 | c.5385G= (p.Pro1795=) c.5382G= (p.Pro1794=) n.5468G= | |
| 19 | g.38486040G>T | CA507353465 | RYR1 | c.5385G>T (p.Pro1795=) c.5382G>T (p.Pro1794=) n.5468G>T | |
| 19 | g.38486041del | CA507353464 | RYR1 | c.5386del (p.Ala1796ProfsTer17) c.5383del (p.Ala1795ProfsTer17) n.5469del | COSMIC |
| 19 | g.38486041G>A | CA405654968 | RYR1 | c.5386G>A (p.Ala1796Thr) c.5383G>A (p.Ala1795Thr) n.5469G>A | |
| 19 | g.38486041G>C | CA405654970 | RYR1 | c.5386G>C (p.Ala1796Pro) c.5383G>C (p.Ala1795Pro) n.5469G>C | |
| 19 | g.38486041G>T | CA405654971 | RYR1 | c.5386G>T (p.Ala1796Ser) c.5383G>T (p.Ala1795Ser) n.5469G>T | gnomAD v4 |
| 19 | g.38486044_38486058del | CA2584898021 | RYR1 | c.5389_5403del (p.Arg1797_Ala1801del) c.5386_5400del (p.Arg1796_Ala1800del) n.5472_5486del | gnomAD v4 |
| 19 | g.38486042C>A | CA405654976 | RYR1 | c.5387C>A (p.Ala1796Asp) c.5384C>A (p.Ala1795Asp) n.5470C>A | ClinVar gnomAD v4 |
| 19 | g.38486042C>G | CA405654974 | RYR1 | c.5387C>G (p.Ala1796Gly) c.5384C>G (p.Ala1795Gly) n.5470C>G | |
| 19 | g.38486042C>T | CA081779 | RYR1 | c.5387C>T (p.Ala1796Val) c.5384C>T (p.Ala1795Val) n.5470C>T | |
| 19 | g.38486043C>A | CA507353471 | RYR1 | c.5388C>A (p.Ala1796=) c.5385C>A (p.Ala1795=) n.5471C>A | |
| 19 | g.38486043C>G | CA507353473 | RYR1 | c.5388C>G (p.Ala1796=) c.5385C>G (p.Ala1795=) n.5471C>G | ClinVar |
| 19 | g.38486043C>T | CA507353472 | RYR1 | c.5388C>T (p.Ala1796=) c.5385C>T (p.Ala1795=) n.5471C>T | |
| 19 | g.38486044C>A | CA405654978 | RYR1 | c.5389C>A (p.Arg1797Ser) c.5386C>A (p.Arg1796Ser) n.5472C>A | COSMIC |
| 19 | g.38486044C= | CA2335046379 | RYR1 | c.5389C= (p.Arg1797=) c.5386C= (p.Arg1796=) n.5472C= | |
| 19 | g.38486044C>G | CA405654980 | RYR1 | c.5389C>G (p.Arg1797Gly) c.5386C>G (p.Arg1796Gly) n.5472C>G | gnomAD v4 |
| 19 | g.38486044C>T | CA405654982 | RYR1 | c.5389C>T (p.Arg1797Cys) c.5386C>T (p.Arg1796Cys) n.5472C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38486045G>A | CA405654985 | RYR1 | c.5390G>A (p.Arg1797His) c.5387G>A (p.Arg1796His) n.5473G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.38486045G>C | CA405654986 | RYR1 | c.5390G>C (p.Arg1797Pro) c.5387G>C (p.Arg1796Pro) n.5473G>C | |
| 19 | g.38486045G>T | CA405654987 | RYR1 | c.5390G>T (p.Arg1797Leu) c.5387G>T (p.Arg1796Leu) n.5473G>T | gnomAD v4 |
| 19 | g.38486046C>A | CA507353479 | RYR1 | c.5391C>A (p.Arg1797=) c.5388C>A (p.Arg1796=) n.5474C>A | |
| 19 | g.38486046C>G | CA507353478 | RYR1 | c.5391C>G (p.Arg1797=) c.5388C>G (p.Arg1796=) n.5474C>G | |
| 19 | g.38486046C>T | CA507353475 | RYR1 | c.5391C>T (p.Arg1797=) c.5388C>T (p.Arg1796=) n.5474C>T | |
| 19 | g.38486047del | CA2584898022 | RYR1 | c.5392del (p.Leu1798SerfsTer15) c.5389del (p.Leu1797SerfsTer15) n.5475del | gnomAD v4 |
| 19 | g.38486047C>A | CA405654989 | RYR1 | c.5392C>A (p.Leu1798Ile) c.5389C>A (p.Leu1797Ile) n.5475C>A | |
| 19 | g.38486047C>G | CA405654990 | RYR1 | c.5392C>G (p.Leu1798Val) c.5389C>G (p.Leu1797Val) n.5475C>G | |
| 19 | g.38486047C>T | CA405654992 | RYR1 | c.5392C>T (p.Leu1798Phe) c.5389C>T (p.Leu1797Phe) n.5475C>T | |
| 19 | g.38486048T>A | CA405654993 | RYR1 | c.5393T>A (p.Leu1798His) c.5390T>A (p.Leu1797His) n.5476T>A | |
| 19 | g.38486048T>C | CA405654995 | RYR1 | c.5393T>C (p.Leu1798Pro) c.5390T>C (p.Leu1797Pro) n.5476T>C | |
| 19 | g.38486048T>G | CA405654997 | RYR1 | c.5393T>G (p.Leu1798Arg) c.5390T>G (p.Leu1797Arg) n.5476T>G | |
| 19 | g.38486049C>A | CA507353483 | RYR1 | c.5394C>A (p.Leu1798=) c.5391C>A (p.Leu1797=) n.5477C>A | |
| 19 | g.38486049C= | CA2335046380 | RYR1 | c.5394C= (p.Leu1798=) c.5391C= (p.Leu1797=) n.5477C= | |
| 19 | g.38486049C>G | CA507353485 | RYR1 | c.5394C>G (p.Leu1798=) c.5391C>G (p.Leu1797=) n.5477C>G | |
| 19 | g.38486049C>T | CA507353484 | RYR1 | c.5394C>T (p.Leu1798=) c.5391C>T (p.Leu1797=) n.5477C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38486050A>C | CA405655002 | RYR1 | c.5395A>C (p.Ser1799Arg) c.5392A>C (p.Ser1798Arg) n.5478A>C | |
| 19 | g.38486050A>G | CA405655001 | RYR1 | c.5395A>G (p.Ser1799Gly) c.5392A>G (p.Ser1798Gly) n.5478A>G | |
| 19 | g.38486050A>T | CA405654999 | RYR1 | c.5395A>T (p.Ser1799Cys) c.5392A>T (p.Ser1798Cys) n.5478A>T | |
| 19 | g.38486051G>A | CA405655006 | RYR1 | c.5396G>A (p.Ser1799Asn) c.5393G>A (p.Ser1798Asn) n.5479G>A | |
| 19 | g.38486051G>C | CA405655005 | RYR1 | c.5396G>C (p.Ser1799Thr) c.5393G>C (p.Ser1798Thr) n.5479G>C | |
| 19 | g.38486051G>T | CA405655009 | RYR1 | c.5396G>T (p.Ser1799Ile) c.5393G>T (p.Ser1798Ile) n.5479G>T | |
| 19 | g.38486052C>A | CA405655013 | RYR1 | c.5397C>A (p.Ser1799Arg) c.5394C>A (p.Ser1798Arg) n.5480C>A | |
| 19 | g.38486052C>G | CA405655020 | RYR1 | c.5397C>G (p.Ser1799Arg) c.5394C>G (p.Ser1798Arg) n.5480C>G | |
| 19 | g.38486052C>T | CA507353486 | RYR1 | c.5397C>T (p.Ser1799=) c.5394C>T (p.Ser1798=) n.5480C>T | |
| 19 | g.38486053C>A | CA405655021 | RYR1 | c.5398C>A (p.Pro1800Thr) c.5395C>A (p.Pro1799Thr) n.5481C>A | |
| 19 | g.38486053C>G | CA405655023 | RYR1 | c.5398C>G (p.Pro1800Ala) c.5395C>G (p.Pro1799Ala) n.5481C>G | |
| 19 | g.38486053C>T | CA405655025 | RYR1 | c.5398C>T (p.Pro1800Ser) c.5395C>T (p.Pro1799Ser) n.5481C>T | ClinVar dbSNP |
| 19 | g.38486054C>A | CA405655027 | RYR1 | c.5399C>A (p.Pro1800His) c.5396C>A (p.Pro1799His) n.5482C>A | |
| 19 | g.38486054C>G | CA405655030 | RYR1 | c.5399C>G (p.Pro1800Arg) c.5396C>G (p.Pro1799Arg) n.5482C>G | |
| 19 | g.38486054C>T | CA405655034 | RYR1 | c.5399C>T (p.Pro1800Leu) c.5396C>T (p.Pro1799Leu) n.5482C>T | |
| 19 | g.38486055T>A | CA507353489 | RYR1 | c.5400T>A (p.Pro1800=) c.5397T>A (p.Pro1799=) n.5483T>A | |
| 19 | g.38486055T>C | CA507353490 | RYR1 | c.5400T>C (p.Pro1800=) c.5397T>C (p.Pro1799=) n.5483T>C | |
| 19 | g.38486055T>G | CA507353491 | RYR1 | c.5400T>G (p.Pro1800=) c.5397T>G (p.Pro1799=) n.5483T>G | gnomAD v4 |
| 19 | g.38486056G>A | CA405655038 | RYR1 | c.5401G>A (p.Ala1801Thr) c.5398G>A (p.Ala1800Thr) n.5484G>A | |
| 19 | g.38486056G>C | CA405655045 | RYR1 | c.5401G>C (p.Ala1801Pro) c.5398G>C (p.Ala1800Pro) n.5484G>C | |
| 19 | g.38486056G>T | CA405655048 | RYR1 | c.5401G>T (p.Ala1801Ser) c.5398G>T (p.Ala1800Ser) n.5484G>T | |
| 19 | g.38486057C>A | CA405655052 | RYR1 | c.5402C>A (p.Ala1801Asp) c.5399C>A (p.Ala1800Asp) n.5485C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486057C= | CA2335046381 | RYR1 | c.5402C= (p.Ala1801=) c.5399C= (p.Ala1800=) n.5485C= | |
| 19 | g.38486057C>G | CA405655053 | RYR1 | c.5402C>G (p.Ala1801Gly) c.5399C>G (p.Ala1800Gly) n.5485C>G | |
| 19 | g.38486057C>T | CA405655054 | RYR1 | c.5402C>T (p.Ala1801Val) c.5399C>T (p.Ala1800Val) n.5485C>T | |
| 19 | g.38486058C>A | CA507353495 | RYR1 | c.5403C>A (p.Ala1801=) c.5400C>A (p.Ala1800=) n.5486C>A | |
| 19 | g.38486058C>G | CA507353496 | RYR1 | c.5403C>G (p.Ala1801=) c.5400C>G (p.Ala1800=) n.5486C>G | |
| 19 | g.38486058C>T | CA507353497 | RYR1 | c.5403C>T (p.Ala1801=) c.5400C>T (p.Ala1800=) n.5486C>T | |
| 19 | g.38486059A>C | CA405655064 | RYR1 | c.5404A>C (p.Ile1802Leu) c.5401A>C (p.Ile1801Leu) n.5487A>C | |
| 19 | g.38486059A>G | CA405655059 | RYR1 | c.5404A>G (p.Ile1802Val) c.5401A>G (p.Ile1801Val) n.5487A>G | |
| 19 | g.38486059A>T | CA405655062 | RYR1 | c.5404A>T (p.Ile1802Phe) c.5401A>T (p.Ile1801Phe) n.5487A>T | |
| 19 | g.38486060T>A | CA405655068 | RYR1 | c.5405T>A (p.Ile1802Asn) c.5402T>A (p.Ile1801Asn) n.5488T>A | |
| 19 | g.38486060T>C | CA405655071 | RYR1 | c.5405T>C (p.Ile1802Thr) c.5402T>C (p.Ile1801Thr) n.5488T>C | |
| 19 | g.38486060T>G | CA405655074 | RYR1 | c.5405T>G (p.Ile1802Ser) c.5402T>G (p.Ile1801Ser) n.5488T>G | |
| 19 | g.38486061C>A | CA507353502 | RYR1 | c.5406C>A (p.Ile1802=) c.5403C>A (p.Ile1801=) n.5489C>A | |
| 19 | g.38486061C>G | CA405655076 | RYR1 | c.5406C>G (p.Ile1802Met) c.5403C>G (p.Ile1801Met) n.5489C>G | gnomAD v4 |
| 19 | g.38486061C>T | CA507353503 | RYR1 | c.5406C>T (p.Ile1802=) c.5403C>T (p.Ile1801=) n.5489C>T | |
| 19 | g.38486062C>A | CA405655079 | RYR1 | c.5407C>A (p.Pro1803Thr) c.5404C>A (p.Pro1802Thr) n.5490C>A | |
| 19 | g.38486062C>G | CA405655081 | RYR1 | c.5407C>G (p.Pro1803Ala) c.5404C>G (p.Pro1802Ala) n.5490C>G | |
| 19 | g.38486062C>T | CA405655084 | RYR1 | c.5407C>T (p.Pro1803Ser) c.5404C>T (p.Pro1802Ser) n.5490C>T | |
| 19 | g.38486063C>A | CA405655088 | RYR1 | c.5408C>A (p.Pro1803Gln) c.5405C>A (p.Pro1802Gln) n.5491C>A | |
| 19 | g.38486063C= | CA2335046382 | RYR1 | c.5408C= (p.Pro1803=) c.5405C= (p.Pro1802=) n.5491C= | |
| 19 | g.38486063C>G | CA405655089 | RYR1 | c.5408C>G (p.Pro1803Arg) c.5405C>G (p.Pro1802Arg) n.5491C>G | gnomAD v4 |
| 19 | g.38486063C>T | CA067071 | RYR1 | c.5408C>T (p.Pro1803Leu) c.5405C>T (p.Pro1802Leu) n.5491C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38486064G>A | CA067074 | RYR1 | c.5409G>A (p.Pro1803=) c.5406G>A (p.Pro1802=) n.5492G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38486064G>C | CA507353511 | RYR1 | c.5409G>C (p.Pro1803=) c.5406G>C (p.Pro1802=) n.5492G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38486064G= | CA2335046383 | RYR1 | c.5409G= (p.Pro1803=) c.5406G= (p.Pro1802=) n.5492G= | |
| 19 | g.38486064G>T | CA507353508 | RYR1 | c.5409G>T (p.Pro1803=) c.5406G>T (p.Pro1802=) n.5492G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.38486065C>A | CA405655101 | RYR1 | c.5410C>A (p.Leu1804Met) c.5407C>A (p.Leu1803Met) n.5493C>A | |
| 19 | g.38486065C= | CA2335046384 | RYR1 | c.5410C= (p.Leu1804=) c.5407C= (p.Leu1803=) n.5493C= | |
| 19 | g.38486065C>G | CA405655098 | RYR1 | c.5410C>G (p.Leu1804Val) c.5407C>G (p.Leu1803Val) n.5493C>G | |
| 19 | g.38486065C>T | CA507353401 | RYR1 | c.5410C>T (p.Leu1804=) c.5407C>T (p.Leu1803=) n.5493C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486066T>A | CA405655103 | RYR1 | c.5411T>A (p.Leu1804Gln) c.5408T>A (p.Leu1803Gln) n.5494T>A | |
| 19 | g.38486066T>C | CA405655104 | RYR1 | c.5411T>C (p.Leu1804Pro) c.5408T>C (p.Leu1803Pro) n.5494T>C | |
| 19 | g.38486066T>G | CA405655105 | RYR1 | c.5411T>G (p.Leu1804Arg) c.5408T>G (p.Leu1803Arg) n.5494T>G | |
| 19 | g.38486067G>A | CA081782 | RYR1 | c.5412G>A (p.Leu1804=) c.5409G>A (p.Leu1803=) n.5495G>A | COSMIC |
| 19 | g.38486067G>C | CA507353402 | RYR1 | c.5412G>C (p.Leu1804=) c.5409G>C (p.Leu1803=) n.5495G>C | |
| 19 | g.38486067G>T | CA507353403 | RYR1 | c.5412G>T (p.Leu1804=) c.5409G>T (p.Leu1803=) n.5495G>T | |
| 19 | g.38486068G>A | CA405655113 | RYR1 | c.5413G>A (p.Glu1805Lys) c.5410G>A (p.Glu1804Lys) n.5496G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38486068G>C | CA405655116 | RYR1 | c.5413G>C (p.Glu1805Gln) c.5410G>C (p.Glu1804Gln) n.5496G>C | |
| 19 | g.38486068G= | CA2335046385 | RYR1 | c.5413G= (p.Glu1805=) c.5410G= (p.Glu1804=) n.5496G= | |
| 19 | g.38486068G>T | CA405655117 | RYR1 | c.5413G>T (p.Glu1805Ter) c.5410G>T (p.Glu1804Ter) n.5496G>T | |
| 19 | g.38486069A>C | CA405655122 | RYR1 | c.5414A>C (p.Glu1805Ala) c.5411A>C (p.Glu1804Ala) n.5497A>C | |
| 19 | g.38486069A>G | CA405655120 | RYR1 | c.5414A>G (p.Glu1805Gly) c.5411A>G (p.Glu1804Gly) n.5497A>G | |
| 19 | g.38486069A>T | CA405655121 | RYR1 | c.5414A>T (p.Glu1805Val) c.5411A>T (p.Glu1804Val) n.5497A>T | |
| 19 | g.38486070G>A | CA507353404 | RYR1 | c.5415G>A (p.Glu1805=) c.5412G>A (p.Glu1804=) n.5498G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38486070G>C | CA405655123 | RYR1 | c.5415G>C (p.Glu1805Asp) c.5412G>C (p.Glu1804Asp) n.5498G>C | |
| 19 | g.38486070G= | CA2335046386 | RYR1 | c.5415G= (p.Glu1805=) c.5412G= (p.Glu1804=) n.5498G= | |
| 19 | g.38486070G>T | CA405655125 | RYR1 | c.5415G>T (p.Glu1805Asp) c.5412G>T (p.Glu1804Asp) n.5498G>T | gnomAD v4 |
| 19 | g.38486072_38486080dup | CA2584898023 | RYR1 | c.5417_5425dup (p.Arg1808_Asp1809insAlaLeuArg) c.5414_5422dup (p.Arg1807_Asp1808insAlaLeuArg) n.5500_5508dup | gnomAD v4 |
| 19 | g.38486071G>A | CA405655126 | RYR1 | c.5416G>A (p.Ala1806Thr) c.5413G>A (p.Ala1805Thr) n.5499G>A | dbSNP COSMIC |
| 19 | g.38486071G>C | CA405655128 | RYR1 | c.5416G>C (p.Ala1806Pro) c.5413G>C (p.Ala1805Pro) n.5499G>C | |
| 19 | g.38486071G= | CA2335046387 | RYR1 | c.5416G= (p.Ala1806=) c.5413G= (p.Ala1805=) n.5499G= | |
| 19 | g.38486071G>T | CA405655129 | RYR1 | c.5416G>T (p.Ala1806Ser) c.5413G>T (p.Ala1805Ser) n.5499G>T | gnomAD v4 |
| 19 | g.38486072C>A | CA405655132 | RYR1 | c.5417C>A (p.Ala1806Asp) c.5414C>A (p.Ala1805Asp) n.5500C>A | |
| 19 | g.38486072C= | CA2335046388 | RYR1 | c.5417C= (p.Ala1806=) c.5414C= (p.Ala1805=) n.5500C= | |
| 19 | g.38486072C>G | CA405655140 | RYR1 | c.5417C>G (p.Ala1806Gly) c.5414C>G (p.Ala1805Gly) n.5500C>G | |
| 19 | g.38486072C>T | CA067077 | RYR1 | c.5417C>T (p.Ala1806Val) c.5414C>T (p.Ala1805Val) n.5500C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486074del | CA2695228662 | RYR1 | c.5419del (p.Leu1807CysfsTer6) c.5416del (p.Leu1806CysfsTer6) n.5502del | |
| 19 | g.38486073C>A | CA507353410 | RYR1 | c.5418C>A (p.Ala1806=) c.5415C>A (p.Ala1805=) n.5501C>A | |
| 19 | g.38486073C= | CA2335046389 | RYR1 | c.5418C= (p.Ala1806=) c.5415C= (p.Ala1805=) n.5501C= | |
| 19 | g.38486073C>G | CA507353412 | RYR1 | c.5418C>G (p.Ala1806=) c.5415C>G (p.Ala1805=) n.5501C>G | |
| 19 | g.38486073C>T | CA067081 | RYR1 | c.5418C>T (p.Ala1806=) c.5415C>T (p.Ala1805=) n.5501C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38486074C>A | CA405655144 | RYR1 | c.5419C>A (p.Leu1807Met) c.5416C>A (p.Leu1806Met) n.5502C>A | gnomAD v4 |
| 19 | g.38486074C>G | CA405655148 | RYR1 | c.5419C>G (p.Leu1807Val) c.5416C>G (p.Leu1806Val) n.5502C>G | gnomAD v4 |
| 19 | g.38486074C>T | CA507353415 | RYR1 | c.5419C>T (p.Leu1807=) c.5416C>T (p.Leu1806=) n.5502C>T | |
| 19 | g.38486075T>A | CA405655151 | RYR1 | c.5420T>A (p.Leu1807Gln) c.5417T>A (p.Leu1806Gln) n.5503T>A | |
| 19 | g.38486075T>C | CA405655154 | RYR1 | c.5420T>C (p.Leu1807Pro) c.5417T>C (p.Leu1806Pro) n.5503T>C | |
| 19 | g.38486075T>G | CA405655157 | RYR1 | c.5420T>G (p.Leu1807Arg) c.5417T>G (p.Leu1806Arg) n.5503T>G | dbSNP gnomAD v4 |
| 19 | g.38486075T= | CA2335046390 | RYR1 | c.5420T= (p.Leu1807=) c.5417T= (p.Leu1806=) n.5503T= | |
| 19 | g.38486076G>A | CA507353417 | RYR1 | c.5421G>A (p.Leu1807=) c.5418G>A (p.Leu1806=) n.5504G>A | |
| 19 | g.38486076G>C | CA507353418 | RYR1 | c.5421G>C (p.Leu1807=) c.5418G>C (p.Leu1806=) n.5504G>C | gnomAD v4 |
| 19 | g.38486076G>T | CA507353419 | RYR1 | c.5421G>T (p.Leu1807=) c.5418G>T (p.Leu1806=) n.5504G>T | |
| 19 | g.38486077C>A | CA507353420 | RYR1 | c.5422C>A (p.Arg1808=) c.5419C>A (p.Arg1807=) n.5505C>A | |
| 19 | g.38486077C= | CA2335046391 | RYR1 | c.5422C= (p.Arg1808=) c.5419C= (p.Arg1807=) n.5505C= | |
| 19 | g.38486077C>G | CA405655159 | RYR1 | c.5422C>G (p.Arg1808Gly) c.5419C>G (p.Arg1807Gly) n.5505C>G | |
| 19 | g.38486077C>T | CA067084 | RYR1 | c.5422C>T (p.Arg1808Trp) c.5419C>T (p.Arg1807Trp) n.5505C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38486078G>A | CA067087 | RYR1 | c.5423G>A (p.Arg1808Gln) c.5420G>A (p.Arg1807Gln) n.5506G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486078G>C | CA405655165 | RYR1 | c.5423G>C (p.Arg1808Pro) c.5420G>C (p.Arg1807Pro) n.5506G>C | dbSNP |
| 19 | g.38486078G= | CA2335046392 | RYR1 | c.5423G= (p.Arg1808=) c.5420G= (p.Arg1807=) n.5506G= | |
| 19 | g.38486078G>T | CA405655169 | RYR1 | c.5423G>T (p.Arg1808Leu) c.5420G>T (p.Arg1807Leu) n.5506G>T | |
| 19 | g.38486079G>A | CA507353424 | RYR1 | c.5424G>A (p.Arg1808=) c.5421G>A (p.Arg1807=) n.5507G>A | ClinVar |
| 19 | g.38486079G>C | CA507353425 | RYR1 | c.5424G>C (p.Arg1808=) c.5421G>C (p.Arg1807=) n.5507G>C | |
| 19 | g.38486079G>T | CA507353426 | RYR1 | c.5424G>T (p.Arg1808=) c.5421G>T (p.Arg1807=) n.5507G>T | |
| 19 | g.38486080G>A | CA405655176 | RYR1 | c.5425G>A (p.Asp1809Asn) c.5422G>A (p.Asp1808Asn) n.5508G>A | ClinVar |
| 19 | g.38486080G>C | CA405655179 | RYR1 | c.5425G>C (p.Asp1809His) c.5422G>C (p.Asp1808His) n.5508G>C | |
| 19 | g.38486080G>T | CA405655173 | RYR1 | c.5425G>T (p.Asp1809Tyr) c.5422G>T (p.Asp1808Tyr) n.5508G>T | gnomAD v4 |
| 19 | g.38486081A>C | CA405655182 | RYR1 | c.5426A>C (p.Asp1809Ala) c.5423A>C (p.Asp1808Ala) n.5509A>C | |
| 19 | g.38486081A>G | CA405655183 | RYR1 | c.5426A>G (p.Asp1809Gly) c.5423A>G (p.Asp1808Gly) n.5509A>G | |
| 19 | g.38486081A>T | CA405655185 | RYR1 | c.5426A>T (p.Asp1809Val) c.5423A>T (p.Asp1808Val) n.5509A>T | |
| 19 | g.38486082C>A | CA405655188 | RYR1 | c.5427C>A (p.Asp1809Glu) c.5424C>A (p.Asp1808Glu) n.5510C>A | gnomAD v4 COSMIC |
| 19 | g.38486082C= | CA2335046393 | RYR1 | c.5427C= (p.Asp1809=) c.5424C= (p.Asp1808=) n.5510C= | |
| 19 | g.38486082C>G | CA067088 | RYR1 | c.5427C>G (p.Asp1809Glu) c.5424C>G (p.Asp1808Glu) n.5510C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38486082C>T | CA507353429 | RYR1 | c.5427C>T (p.Asp1809=) c.5424C>T (p.Asp1808=) n.5510C>T |