Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38485554_38485557del | CA633066563 | RYR1 | c.4935-36_4935-33del (n.4935-36_4935-33del) c.4932-36_4932-33del (n.4932-36_4932-33del) n.5018-36_5018-33del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485556A= | CA2335046117 | RYR1 | c.4935-34A= (n.4935-34A=) c.4932-34A= (n.4932-34A=) n.5018-34A= | |
19 | g.38485556A>C | CA066534 | RYR1 | c.4935-34A>C (n.4935-34A>C) c.4932-34A>C (n.4932-34A>C) n.5018-34A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485556A>G | CA2584897989 | RYR1 | c.4935-34A>G (n.4935-34A>G) c.4932-34A>G (n.4932-34A>G) n.5018-34A>G | gnomAD v4 |
19 | g.38485556A>T | CA995728831 | RYR1 | c.4935-34A>T (n.4935-34A>T) c.4932-34A>T (n.4932-34A>T) n.5018-34A>T | dbSNP |
19 | g.38485557T>C | CA066531 | RYR1 | c.4935-33T>C (n.4935-33T>C) c.4932-33T>C (n.4932-33T>C) n.5018-33T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485557T= | CA2335046118 | RYR1 | c.4935-33T= (n.4935-33T=) c.4932-33T= (n.4932-33T=) n.5018-33T= | |
19 | g.38485558C>A | CA2584897990 | RYR1 | c.4935-32C>A (n.4935-32C>A) c.4932-32C>A (n.4932-32C>A) n.5018-32C>A | gnomAD v4 |
19 | g.38485558C= | CA2335046119 | RYR1 | c.4935-32C= (n.4935-32C=) c.4932-32C= (n.4932-32C=) n.5018-32C= | |
19 | g.38485558C>T | CA633066574 | RYR1 | c.4935-32C>T (n.4935-32C>T) c.4932-32C>T (n.4932-32C>T) n.5018-32C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485559T>A | CA2584897991 | RYR1 | c.4935-31T>A (n.4935-31T>A) c.4932-31T>A (n.4932-31T>A) n.5018-31T>A | gnomAD v4 |
19 | g.38485559T>C | CA2584897992 | RYR1 | c.4935-31T>C (n.4935-31T>C) c.4932-31T>C (n.4932-31T>C) n.5018-31T>C | gnomAD v4 |
19 | g.38485560G>A | CA633066575 | RYR1 | c.4935-30G>A (n.4935-30G>A) c.4932-30G>A (n.4932-30G>A) n.5018-30G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485560G= | CA2335046120 | RYR1 | c.4935-30G= (n.4935-30G=) c.4932-30G= (n.4932-30G=) n.5018-30G= | |
19 | g.38485560G>T | CA2584897993 | RYR1 | c.4935-30G>T (n.4935-30G>T) c.4932-30G>T (n.4932-30G>T) n.5018-30G>T | gnomAD v4 |
19 | g.38485561T>C | CA10587315 | RYR1 | c.4935-29T>C (n.4935-29T>C) c.4932-29T>C (n.4932-29T>C) n.5018-29T>C | ClinVar dbSNP gnomAD v4 |
19 | g.38485561T= | CA2335046121 | RYR1 | c.4935-29T= (n.4935-29T=) c.4932-29T= (n.4932-29T=) n.5018-29T= | |
19 | g.38485562C>A | CA2584897994 | RYR1 | c.4935-28C>A (n.4935-28C>A) c.4932-28C>A (n.4932-28C>A) n.5018-28C>A | gnomAD v4 |
19 | g.38485562C>T | CA2584897995 | RYR1 | c.4935-28C>T (n.4935-28C>T) c.4932-28C>T (n.4932-28C>T) n.5018-28C>T | gnomAD v4 |
19 | g.38485563C>G | CA2576770722 | RYR1 | c.4935-27C>G (n.4935-27C>G) c.4932-27C>G (n.4932-27C>G) n.5018-27C>G | |
19 | g.38485564C>A | CA2584897996 | RYR1 | c.4935-26C>A (n.4935-26C>A) c.4932-26C>A (n.4932-26C>A) n.5018-26C>A | gnomAD v4 |
19 | g.38485564C= | CA2335046122 | RYR1 | c.4935-26C= (n.4935-26C=) c.4932-26C= (n.4932-26C=) n.5018-26C= | |
19 | g.38485564C>T | CA882053305 | RYR1 | c.4935-26C>T (n.4935-26C>T) c.4932-26C>T (n.4932-26C>T) n.5018-26C>T | dbSNP gnomAD v4 |
19 | g.38485564_38485566delinsCTG | CA2335046123 | RYR1 | c.4935-26_4935-24delinsCTG (n.4935-26_4935-24delinsCTG) c.4932-26_4932-24delinsCTG (n.4932-26_4932-24delinsCTG) n.5018-26_5018-24delinsCTG | |
19 | g.38485565T>G | CA066529 | RYR1 | c.4935-25T>G (n.4935-25T>G) c.4932-25T>G (n.4932-25T>G) n.5018-25T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485565T= | CA2335046124 | RYR1 | c.4935-25T= (n.4935-25T=) c.4932-25T= (n.4932-25T=) n.5018-25T= | |
19 | g.38485566_38485567del | CA066527 | RYR1 | c.4935-24_4935-23del (n.4935-24_4935-23del) c.4932-24_4932-23del (n.4932-24_4932-23del) n.5018-24_5018-23del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485566G>T | CA2584897997 | RYR1 | c.4935-24G>T (n.4935-24G>T) c.4932-24G>T (n.4932-24G>T) n.5018-24G>T | gnomAD v4 |
19 | g.38485567T>C | CA2576770723 | RYR1 | c.4935-23T>C (n.4935-23T>C) c.4932-23T>C (n.4932-23T>C) n.5018-23T>C | gnomAD v4 |
19 | g.38485568_38485569del | CA081667 | RYR1 | c.4935-22_4935-21del (n.4935-22_4935-21del) c.4932-22_4932-21del (n.4932-22_4932-21del) n.5018-22_5018-21del | |
19 | g.38485568C>A | CA2584897998 | RYR1 | c.4935-22C>A (n.4935-22C>A) c.4932-22C>A (n.4932-22C>A) n.5018-22C>A | gnomAD v4 |
19 | g.38485568C= | CA2335046125 | RYR1 | c.4935-22C= (n.4935-22C=) c.4932-22C= (n.4932-22C=) n.5018-22C= | |
19 | g.38485568C>G | CA657212250 | RYR1 | c.4935-22C>G (n.4935-22C>G) c.4932-22C>G (n.4932-22C>G) n.5018-22C>G | COSMIC |
19 | g.38485568C>T | CA066525 | RYR1 | c.4935-22C>T (n.4935-22C>T) c.4932-22C>T (n.4932-22C>T) n.5018-22C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485569T>C | CA2584897999 | RYR1 | c.4935-21T>C (n.4935-21T>C) c.4932-21T>C (n.4932-21T>C) n.5018-21T>C | gnomAD v4 |
19 | g.38485570G>A | CA2739276699 | RYR1 | c.4935-20G>A (n.4935-20G>A) c.4932-20G>A (n.4932-20G>A) n.5018-20G>A | ClinVar |
19 | g.38485570G>C | CA995728840 | RYR1 | c.4935-20G>C (n.4935-20G>C) c.4932-20G>C (n.4932-20G>C) n.5018-20G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485570G= | CA2335046126 | RYR1 | c.4935-20G= (n.4935-20G=) c.4932-20G= (n.4932-20G=) n.5018-20G= | |
19 | g.38485570G>T | CA2584898000 | RYR1 | c.4935-20G>T (n.4935-20G>T) c.4932-20G>T (n.4932-20G>T) n.5018-20G>T | gnomAD v4 |
19 | g.38485574C>A | CA2584898002 | RYR1 | c.4935-16C>A (n.4935-16C>A) c.4932-16C>A (n.4932-16C>A) n.5018-16C>A | gnomAD v4 |
19 | g.38485576dup | CA2584898001 | RYR1 | c.4935-14dup (n.4935-14dup) c.4932-14dup (n.4932-14dup) n.5018-14dup | gnomAD v4 |
19 | g.38485575C>A | CA2573156293 | RYR1 | c.4935-15C>A (n.4935-15C>A) c.4932-15C>A (n.4932-15C>A) n.5018-15C>A | ClinVar dbSNP gnomAD v4 |
19 | g.38485575C>T | CA2584898003 | RYR1 | c.4935-15C>T (n.4935-15C>T) c.4932-15C>T (n.4932-15C>T) n.5018-15C>T | gnomAD v4 |
19 | g.38485577A>G | CA2584898004 | RYR1 | c.4935-13A>G (n.4935-13A>G) c.4932-13A>G (n.4932-13A>G) n.5018-13A>G | gnomAD v4 |
19 | g.38485578C>A | CA2576770724 | RYR1 | c.4935-12C>A (n.4935-12C>A) c.4932-12C>A (n.4932-12C>A) n.5018-12C>A | gnomAD v4 |
19 | g.38485578C>T | CA2584898005 | RYR1 | c.4935-12C>T (n.4935-12C>T) c.4932-12C>T (n.4932-12C>T) n.5018-12C>T | ClinVar gnomAD v4 |
19 | g.38485579C>A | CA066523 | RYR1 | c.4935-11C>A (n.4935-11C>A) c.4932-11C>A (n.4932-11C>A) n.5018-11C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485579C= | CA2335046127 | RYR1 | c.4935-11C= (n.4935-11C=) c.4932-11C= (n.4932-11C=) n.5018-11C= | |
19 | g.38485579C>G | CA2335046128 | RYR1 | c.4935-11C>G (n.4935-11C>G) c.4932-11C>G (n.4932-11C>G) n.5018-11C>G | ClinVar dbSNP gnomAD v4 |
19 | g.38485579C>T | CA633066576 | RYR1 | c.4935-11C>T (n.4935-11C>T) c.4932-11C>T (n.4932-11C>T) n.5018-11C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485580T>C | CA2584898006 | RYR1 | c.4935-10T>C (n.4935-10T>C) c.4932-10T>C (n.4932-10T>C) n.5018-10T>C | gnomAD v4 |
19 | g.38485581C>A | CA2584898007 | RYR1 | c.4935-9C>A (n.4935-9C>A) c.4932-9C>A (n.4932-9C>A) n.5018-9C>A | gnomAD v4 |
19 | g.38485581C= | CA2335046129 | RYR1 | c.4935-9C= (n.4935-9C=) c.4932-9C= (n.4932-9C=) n.5018-9C= | |
19 | g.38485581C>T | CA995728842 | RYR1 | c.4935-9C>T (n.4935-9C>T) c.4932-9C>T (n.4932-9C>T) n.5018-9C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485583G>A | CA2584898008 | RYR1 | c.4935-7G>A (n.4935-7G>A) c.4932-7G>A (n.4932-7G>A) n.5018-7G>A | gnomAD v4 |
19 | g.38485583G>C | CA882053317 | RYR1 | c.4935-7G>C (n.4935-7G>C) c.4932-7G>C (n.4932-7G>C) n.5018-7G>C | ClinVar dbSNP |
19 | g.38485583G= | CA2335046130 | RYR1 | c.4935-7G= (n.4935-7G=) c.4932-7G= (n.4932-7G=) n.5018-7G= | |
19 | g.38485583G>T | CA2584898009 | RYR1 | c.4935-7G>T (n.4935-7G>T) c.4932-7G>T (n.4932-7G>T) n.5018-7G>T | gnomAD v4 |
19 | g.38485584C>T | CA2584898010 | RYR1 | c.4935-6C>T (n.4935-6C>T) c.4932-6C>T (n.4932-6C>T) n.5018-6C>T | gnomAD v4 |
19 | g.38485585T>C | CA2584898011 | RYR1 | c.4935-5T>C (n.4935-5T>C) c.4932-5T>C (n.4932-5T>C) n.5018-5T>C | gnomAD v4 |
19 | g.38485586G>A | CA2584898012 | RYR1 | c.4935-4G>A (n.4935-4G>A) c.4932-4G>A (n.4932-4G>A) n.5018-4G>A | gnomAD v4 |
19 | g.38485586G= | CA2335046131 | RYR1 | c.4935-4G= (n.4935-4G=) c.4932-4G= (n.4932-4G=) n.5018-4G= | |
19 | g.38485586G>T | CA633066577 | RYR1 | c.4935-4G>T (n.4935-4G>T) c.4932-4G>T (n.4932-4G>T) n.5018-4G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485587C>A | CA2584898013 | RYR1 | c.4935-3C>A (n.4935-3C>A) c.4932-3C>A (n.4932-3C>A) n.5018-3C>A | gnomAD v4 |
19 | g.38485587C>T | CA2584898014 | RYR1 | c.4935-3C>T (n.4935-3C>T) c.4932-3C>T (n.4932-3C>T) n.5018-3C>T | gnomAD v4 |
19 | g.38485588A= | CA2335046132 | RYR1 | c.4935-2A= (n.4935-2A=) c.4932-2A= (n.4932-2A=) n.5018-2A= | |
19 | g.38485588A>C | CA405652346 | RYR1 | c.4935-2A>C (n.4935-2A>C) c.4932-2A>C (n.4932-2A>C) n.5018-2A>C | |
19 | g.38485588A>G | CA405652352 | RYR1 | c.4935-2A>G (n.4935-2A>G) c.4932-2A>G (n.4932-2A>G) n.5018-2A>G | |
19 | g.38485588A>T | CA405652355 | RYR1 | c.4935-2A>T (n.4935-2A>T) c.4932-2A>T (n.4932-2A>T) n.5018-2A>T | ClinVar dbSNP |
19 | g.38485589G>A | CA405652359 | RYR1 | c.4935-1G>A (n.4935-1G>A) c.4932-1G>A (n.4932-1G>A) n.5018-1G>A | ClinVar gnomAD v4 |
19 | g.38485589G>C | CA405652361 | RYR1 | c.4935-1G>C (n.4935-1G>C) c.4932-1G>C (n.4932-1G>C) n.5018-1G>C | ClinVar gnomAD v4 |
19 | g.38485589G>T | CA405652364 | RYR1 | c.4935-1G>T (n.4935-1G>T) c.4932-1G>T (n.4932-1G>T) n.5018-1G>T | gnomAD v4 |
19 | g.38485590G>A | CA507238175 | RYR1 | c.4935G>A (p.Arg1645=) c.4932G>A (p.Arg1644=) n.5018G>A | |
19 | g.38485590G>C | CA507238177 | RYR1 | c.4935G>C (p.Arg1645=) c.4932G>C (p.Arg1644=) n.5018G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485590G= | CA2335046133 | RYR1 | c.4935G= (p.Arg1645=) c.4932G= (p.Arg1644=) n.5018G= | |
19 | g.38485590G>T | CA507238176 | RYR1 | c.4935G>T (p.Arg1645=) c.4932G>T (p.Arg1644=) n.5018G>T | gnomAD v4 |
19 | g.38485591T>A | CA405652374 | RYR1 | c.4936T>A (p.Cys1646Ser) c.4933T>A (p.Cys1645Ser) n.5019T>A | |
19 | g.38485591T>C | CA405652373 | RYR1 | c.4936T>C (p.Cys1646Arg) c.4933T>C (p.Cys1645Arg) n.5019T>C | |
19 | g.38485591T>G | CA405652370 | RYR1 | c.4936T>G (p.Cys1646Gly) c.4933T>G (p.Cys1645Gly) n.5019T>G | gnomAD v4 |
19 | g.38485592G>A | CA405652377 | RYR1 | c.4937G>A (p.Cys1646Tyr) c.4934G>A (p.Cys1645Tyr) n.5020G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485592G>C | CA405652378 | RYR1 | c.4937G>C (p.Cys1646Ser) c.4934G>C (p.Cys1645Ser) n.5020G>C | |
19 | g.38485592G= | CA2335046134 | RYR1 | c.4937G= (p.Cys1646=) c.4934G= (p.Cys1645=) n.5020G= | |
19 | g.38485592G>T | CA405652379 | RYR1 | c.4937G>T (p.Cys1646Phe) c.4934G>T (p.Cys1645Phe) n.5020G>T | gnomAD v4 |
19 | g.38485593C>A | CA405652381 | RYR1 | c.4938C>A (p.Cys1646Ter) c.4935C>A (p.Cys1645Ter) n.5021C>A | |
19 | g.38485593C>G | CA405652383 | RYR1 | c.4938C>G (p.Cys1646Trp) c.4935C>G (p.Cys1645Trp) n.5021C>G | |
19 | g.38485593C>T | CA507238178 | RYR1 | c.4938C>T (p.Cys1646=) c.4935C>T (p.Cys1645=) n.5021C>T | gnomAD v4 |
19 | g.38485594A= | CA2335046135 | RYR1 | c.4939A= (p.Met1647=) c.4936A= (p.Met1646=) n.5022A= | |
19 | g.38485594A>C | CA405652385 | RYR1 | c.4939A>C (p.Met1647Leu) c.4936A>C (p.Met1646Leu) n.5022A>C | |
19 | g.38485594A>G | CA405652388 | RYR1 | c.4939A>G (p.Met1647Val) c.4936A>G (p.Met1646Val) n.5022A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485594A>T | CA405652411 | RYR1 | c.4939A>T (p.Met1647Leu) c.4936A>T (p.Met1646Leu) n.5022A>T | |
19 | g.38485595T>A | CA405652422 | RYR1 | c.4940T>A (p.Met1647Lys) c.4937T>A (p.Met1646Lys) n.5023T>A | |
19 | g.38485595T>C | CA308092791 | RYR1 | c.4940T>C (p.Met1647Thr) c.4937T>C (p.Met1646Thr) n.5023T>C | ClinVar dbSNP gnomAD v4 |
19 | g.38485595T>G | CA405652430 | RYR1 | c.4940T>G (p.Met1647Arg) c.4937T>G (p.Met1646Arg) n.5023T>G | |
19 | g.38485595T= | CA2335046136 | RYR1 | c.4940T= (p.Met1647=) c.4937T= (p.Met1646=) n.5023T= | |
19 | g.38485596G>A | CA405652432 | RYR1 | c.4941G>A (p.Met1647Ile) c.4938G>A (p.Met1646Ile) n.5024G>A | |
19 | g.38485596G>C | CA405652436 | RYR1 | c.4941G>C (p.Met1647Ile) c.4938G>C (p.Met1646Ile) n.5024G>C | COSMIC |
19 | g.38485596G>T | CA405652441 | RYR1 | c.4941G>T (p.Met1647Ile) c.4938G>T (p.Met1646Ile) n.5024G>T | gnomAD v4 |
19 | g.38485597G>A | CA405652445 | RYR1 | c.4942G>A (p.Asp1648Asn) c.4939G>A (p.Asp1647Asn) n.5025G>A | |
19 | g.38485597G>C | CA405652447 | RYR1 | c.4942G>C (p.Asp1648His) c.4939G>C (p.Asp1647His) n.5025G>C | |
19 | g.38485597G>T | CA405652444 | RYR1 | c.4942G>T (p.Asp1648Tyr) c.4939G>T (p.Asp1647Tyr) n.5025G>T | gnomAD v4 |
19 | g.38485598A>C | CA405652457 | RYR1 | c.4943A>C (p.Asp1648Ala) c.4940A>C (p.Asp1647Ala) n.5026A>C | |
19 | g.38485598A>G | CA405652461 | RYR1 | c.4943A>G (p.Asp1648Gly) c.4940A>G (p.Asp1647Gly) n.5026A>G | |
19 | g.38485598A>T | CA405652462 | RYR1 | c.4943A>T (p.Asp1648Val) c.4940A>T (p.Asp1647Val) n.5026A>T | |
19 | g.38485599C>A | CA405652463 | RYR1 | c.4944C>A (p.Asp1648Glu) c.4941C>A (p.Asp1647Glu) n.5027C>A | gnomAD v4 |
19 | g.38485599C>G | CA405652465 | RYR1 | c.4944C>G (p.Asp1648Glu) c.4941C>G (p.Asp1647Glu) n.5027C>G | |
19 | g.38485599C>T | CA507238199 | RYR1 | c.4944C>T (p.Asp1648=) c.4941C>T (p.Asp1647=) n.5027C>T | |
19 | g.38485600A= | CA2335046137 | RYR1 | c.4945A= (p.Ile1649=) c.4942A= (p.Ile1648=) n.5028A= | |
19 | g.38485600A>C | CA405652468 | RYR1 | c.4945A>C (p.Ile1649Leu) c.4942A>C (p.Ile1648Leu) n.5028A>C | gnomAD v4 |
19 | g.38485600A>G | CA405652469 | RYR1 | c.4945A>G (p.Ile1649Val) c.4942A>G (p.Ile1648Val) n.5028A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485600A>T | CA405652471 | RYR1 | c.4945A>T (p.Ile1649Phe) c.4942A>T (p.Ile1648Phe) n.5028A>T | |
19 | g.38485601T>A | CA405652476 | RYR1 | c.4946T>A (p.Ile1649Asn) c.4943T>A (p.Ile1648Asn) n.5029T>A | |
19 | g.38485601T>C | CA405652478 | RYR1 | c.4946T>C (p.Ile1649Thr) c.4943T>C (p.Ile1648Thr) n.5029T>C | |
19 | g.38485601T>G | CA405652481 | RYR1 | c.4946T>G (p.Ile1649Ser) c.4943T>G (p.Ile1648Ser) n.5029T>G | |
19 | g.38485602C>A | CA507238210 | RYR1 | c.4947C>A (p.Ile1649=) c.4944C>A (p.Ile1648=) n.5030C>A | |
19 | g.38485602C>G | CA405652485 | RYR1 | c.4947C>G (p.Ile1649Met) c.4944C>G (p.Ile1648Met) n.5030C>G | |
19 | g.38485602C>T | CA507238214 | RYR1 | c.4947C>T (p.Ile1649=) c.4944C>T (p.Ile1648=) n.5030C>T | ClinVar |
19 | g.38485608_38485625dup | CA2695228660 | RYR1 | c.4953_4970dup (p.Leu1656_Asp1657insGluLeuSerGluArgLeu) c.4950_4967dup (p.Leu1655_Asp1656insGluLeuSerGluArgLeu) n.5036_5053dup | |
19 | g.38485603C>A | CA405652492 | RYR1 | c.4948C>A (p.Leu1650Met) c.4945C>A (p.Leu1649Met) n.5031C>A | COSMIC |
19 | g.38485603C>G | CA405652489 | RYR1 | c.4948C>G (p.Leu1650Val) c.4945C>G (p.Leu1649Val) n.5031C>G | |
19 | g.38485603C>T | CA507238220 | RYR1 | c.4948C>T (p.Leu1650=) c.4945C>T (p.Leu1649=) n.5031C>T | ClinVar gnomAD v4 |
19 | g.38485604T>A | CA405652496 | RYR1 | c.4949T>A (p.Leu1650Gln) c.4946T>A (p.Leu1649Gln) n.5032T>A | |
19 | g.38485604T>C | CA405652499 | RYR1 | c.4949T>C (p.Leu1650Pro) c.4946T>C (p.Leu1649Pro) n.5032T>C | ClinVar |
19 | g.38485604T>G | CA405652504 | RYR1 | c.4949T>G (p.Leu1650Arg) c.4946T>G (p.Leu1649Arg) n.5032T>G | |
19 | g.38485605G>A | CA066543 | RYR1 | c.4950G>A (p.Leu1650=) c.4947G>A (p.Leu1649=) n.5033G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485605G>C | CA507238229 | RYR1 | c.4950G>C (p.Leu1650=) c.4947G>C (p.Leu1649=) n.5033G>C | |
19 | g.38485605G= | CA2335046138 | RYR1 | c.4950G= (p.Leu1650=) c.4947G= (p.Leu1649=) n.5033G= | |
19 | g.38485605G>T | CA507238231 | RYR1 | c.4950G>T (p.Leu1650=) c.4947G>T (p.Leu1649=) n.5033G>T | gnomAD v4 |
19 | g.38485606G>A | CA405652511 | RYR1 | c.4951G>A (p.Glu1651Lys) c.4948G>A (p.Glu1650Lys) n.5034G>A | |
19 | g.38485606G>C | CA405652513 | RYR1 | c.4951G>C (p.Glu1651Gln) c.4948G>C (p.Glu1650Gln) n.5034G>C | |
19 | g.38485606G>T | CA405652515 | RYR1 | c.4951G>T (p.Glu1651Ter) c.4948G>T (p.Glu1650Ter) n.5034G>T | gnomAD v4 |
19 | g.38485607A>C | CA405652518 | RYR1 | c.4952A>C (p.Glu1651Ala) c.4949A>C (p.Glu1650Ala) n.5035A>C | |
19 | g.38485607A>G | CA405652519 | RYR1 | c.4952A>G (p.Glu1651Gly) c.4949A>G (p.Glu1650Gly) n.5035A>G | |
19 | g.38485607A>T | CA405652525 | RYR1 | c.4952A>T (p.Glu1651Val) c.4949A>T (p.Glu1650Val) n.5035A>T | |
19 | g.38485608G>A | CA066544 | RYR1 | c.4953G>A (p.Glu1651=) c.4950G>A (p.Glu1650=) n.5036G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485608G>C | CA405652533 | RYR1 | c.4953G>C (p.Glu1651Asp) c.4950G>C (p.Glu1650Asp) n.5036G>C | ClinVar dbSNP |
19 | g.38485608G= | CA2335046139 | RYR1 | c.4953G= (p.Glu1651=) c.4950G= (p.Glu1650=) n.5036G= | |
19 | g.38485608G>T | CA405652537 | RYR1 | c.4953G>T (p.Glu1651Asp) c.4950G>T (p.Glu1650Asp) n.5036G>T | gnomAD v4 |
19 | g.38485609C>A | CA405652539 | RYR1 | c.4954C>A (p.Leu1652Met) c.4951C>A (p.Leu1651Met) n.5037C>A | gnomAD v4 |
19 | g.38485609C>G | CA405652538 | RYR1 | c.4954C>G (p.Leu1652Val) c.4951C>G (p.Leu1651Val) n.5037C>G | |
19 | g.38485609C>T | CA507238249 | RYR1 | c.4954C>T (p.Leu1652=) c.4951C>T (p.Leu1651=) n.5037C>T | gnomAD v4 |
19 | g.38485612_38485629dup | CA995728852 | RYR1 | c.4957_4974dup (p.Leu1658_Gln1659insSerGluArgLeuAspLeu) c.4954_4971dup (p.Leu1657_Gln1658insSerGluArgLeuAspLeu) n.5040_5057dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485610T>A | CA405652541 | RYR1 | c.4955T>A (p.Leu1652Gln) c.4952T>A (p.Leu1651Gln) n.5038T>A | |
19 | g.38485610T>C | CA405652547 | RYR1 | c.4955T>C (p.Leu1652Pro) c.4952T>C (p.Leu1651Pro) n.5038T>C | |
19 | g.38485610T>G | CA405652544 | RYR1 | c.4955T>G (p.Leu1652Arg) c.4952T>G (p.Leu1651Arg) n.5038T>G | |
19 | g.38485611G>A | CA081674 | RYR1 | c.4956G>A (p.Leu1652=) c.4953G>A (p.Leu1651=) n.5039G>A | ClinVar gnomAD v4 |
19 | g.38485611G>C | CA507238257 | RYR1 | c.4956G>C (p.Leu1652=) c.4953G>C (p.Leu1651=) n.5039G>C | |
19 | g.38485611G>T | CA507238255 | RYR1 | c.4956G>T (p.Leu1652=) c.4953G>T (p.Leu1651=) n.5039G>T | gnomAD v4 |
19 | g.38485612T>A | CA405652560 | RYR1 | c.4957T>A (p.Ser1653Thr) c.4954T>A (p.Ser1652Thr) n.5040T>A | gnomAD v4 |
19 | g.38485612T>C | CA405652563 | RYR1 | c.4957T>C (p.Ser1653Pro) c.4954T>C (p.Ser1652Pro) n.5040T>C | gnomAD v4 |
19 | g.38485612T>G | CA405652573 | RYR1 | c.4957T>G (p.Ser1653Ala) c.4954T>G (p.Ser1652Ala) n.5040T>G | |
19 | g.38485613C>A | CA405652581 | RYR1 | c.4958C>A (p.Ser1653Ter) c.4955C>A (p.Ser1652Ter) n.5041C>A | gnomAD v4 |
19 | g.38485613C= | CA2335046140 | RYR1 | c.4958C= (p.Ser1653=) c.4955C= (p.Ser1652=) n.5041C= | |
19 | g.38485613C>G | CA405652585 | RYR1 | c.4958C>G (p.Ser1653Trp) c.4955C>G (p.Ser1652Trp) n.5041C>G | dbSNP |
19 | g.38485613C>T | CA308092804 | RYR1 | c.4958C>T (p.Ser1653Leu) c.4955C>T (p.Ser1652Leu) n.5041C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485614G>A | CA066547 | RYR1 | c.4959G>A (p.Ser1653=) c.4956G>A (p.Ser1652=) n.5042G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38485614G>C | CA507238274 | RYR1 | c.4959G>C (p.Ser1653=) c.4956G>C (p.Ser1652=) n.5042G>C | |
19 | g.38485614G= | CA2335046141 | RYR1 | c.4959G= (p.Ser1653=) c.4956G= (p.Ser1652=) n.5042G= | |
19 | g.38485614G>T | CA507238276 | RYR1 | c.4959G>T (p.Ser1653=) c.4956G>T (p.Ser1652=) n.5042G>T | dbSNP gnomAD v4 |
19 | g.38485615G>A | CA405652606 | RYR1 | c.4960G>A (p.Glu1654Lys) c.4957G>A (p.Glu1653Lys) n.5043G>A | |
19 | g.38485615G>C | CA405652613 | RYR1 | c.4960G>C (p.Glu1654Gln) c.4957G>C (p.Glu1653Gln) n.5043G>C | gnomAD v4 |
19 | g.38485615G>T | CA405652617 | RYR1 | c.4960G>T (p.Glu1654Ter) c.4957G>T (p.Glu1653Ter) n.5043G>T | |
19 | g.38485616A>C | CA405652620 | RYR1 | c.4961A>C (p.Glu1654Ala) c.4958A>C (p.Glu1653Ala) n.5044A>C | |
19 | g.38485616A>G | CA405652624 | RYR1 | c.4961A>G (p.Glu1654Gly) c.4958A>G (p.Glu1653Gly) n.5044A>G | |
19 | g.38485616A>T | CA405652629 | RYR1 | c.4961A>T (p.Glu1654Val) c.4958A>T (p.Glu1653Val) n.5044A>T | |
19 | g.38485617G>A | CA081675 | RYR1 | c.4962G>A (p.Glu1654=) c.4959G>A (p.Glu1653=) n.5045G>A | |
19 | g.38485617G>C | CA405652641 | RYR1 | c.4962G>C (p.Glu1654Asp) c.4959G>C (p.Glu1653Asp) n.5045G>C | |
19 | g.38485617G>T | CA081663 | RYR1 | c.4962G>T (p.Glu1654Asp) c.4959G>T (p.Glu1653Asp) n.5045G>T | gnomAD v4 |
19 | g.38485618C>A | CA405652648 | RYR1 | c.4963C>A (p.Arg1655Ser) c.4960C>A (p.Arg1654Ser) n.5046C>A | ClinVar |
19 | g.38485618C= | CA2335046142 | RYR1 | c.4963C= (p.Arg1655=) c.4960C= (p.Arg1654=) n.5046C= | |
19 | g.38485618C>G | CA405652651 | RYR1 | c.4963C>G (p.Arg1655Gly) c.4960C>G (p.Arg1654Gly) n.5046C>G | gnomAD v4 |
19 | g.38485618C>T | CA066551 | RYR1 | c.4963C>T (p.Arg1655Cys) c.4960C>T (p.Arg1654Cys) n.5046C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485619G>A | CA066554 | RYR1 | c.4964G>A (p.Arg1655His) c.4961G>A (p.Arg1654His) n.5047G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38485619G>C | CA405652657 | RYR1 | c.4964G>C (p.Arg1655Pro) c.4961G>C (p.Arg1654Pro) n.5047G>C | |
19 | g.38485619G= | CA2335046143 | RYR1 | c.4964G= (p.Arg1655=) c.4961G= (p.Arg1654=) n.5047G= | |
19 | g.38485619G>T | CA405652662 | RYR1 | c.4964G>T (p.Arg1655Leu) c.4961G>T (p.Arg1654Leu) n.5047G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38485620C>A | CA507238300 | RYR1 | c.4965C>A (p.Arg1655=) c.4962C>A (p.Arg1654=) n.5048C>A | |
19 | g.38485620C>G | CA507238302 | RYR1 | c.4965C>G (p.Arg1655=) c.4962C>G (p.Arg1654=) n.5048C>G | |
19 | g.38485620C>T | CA507238304 | RYR1 | c.4965C>T (p.Arg1655=) c.4962C>T (p.Arg1654=) n.5048C>T | gnomAD v4 |
19 | g.38485621C>A | CA405652670 | RYR1 | c.4966C>A (p.Leu1656Met) c.4963C>A (p.Leu1655Met) n.5049C>A | gnomAD v4 |
19 | g.38485621C= | CA2335046144 | RYR1 | c.4966C= (p.Leu1656=) c.4963C= (p.Leu1655=) n.5049C= | |
19 | g.38485621C>G | CA405652668 | RYR1 | c.4966C>G (p.Leu1656Val) c.4963C>G (p.Leu1655Val) n.5049C>G | |
19 | g.38485621C>T | CA081676 | RYR1 | c.4966C>T (p.Leu1656=) c.4963C>T (p.Leu1655=) n.5049C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485622T>A | CA405652671 | RYR1 | c.4967T>A (p.Leu1656Gln) c.4964T>A (p.Leu1655Gln) n.5050T>A | gnomAD v4 |
19 | g.38485622T>C | CA405652673 | RYR1 | c.4967T>C (p.Leu1656Pro) c.4964T>C (p.Leu1655Pro) n.5050T>C | gnomAD v4 |
19 | g.38485622T>G | CA405652676 | RYR1 | c.4967T>G (p.Leu1656Arg) c.4964T>G (p.Leu1655Arg) n.5050T>G | |
19 | g.38485623G>A | CA507238315 | RYR1 | c.4968G>A (p.Leu1656=) c.4965G>A (p.Leu1655=) n.5051G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485623G>C | CA507238317 | RYR1 | c.4968G>C (p.Leu1656=) c.4965G>C (p.Leu1655=) n.5051G>C | |
19 | g.38485623G= | CA2335046145 | RYR1 | c.4968G= (p.Leu1656=) c.4965G= (p.Leu1655=) n.5051G= | |
19 | g.38485623G>T | CA507238319 | RYR1 | c.4968G>T (p.Leu1656=) c.4965G>T (p.Leu1655=) n.5051G>T | gnomAD v4 |
19 | g.38485624G>A | CA405652679 | RYR1 | c.4969G>A (p.Asp1657Asn) c.4966G>A (p.Asp1656Asn) n.5052G>A | |
19 | g.38485624G>C | CA405652689 | RYR1 | c.4969G>C (p.Asp1657His) c.4966G>C (p.Asp1656His) n.5052G>C | dbSNP |
19 | g.38485624G>T | CA405652704 | RYR1 | c.4969G>T (p.Asp1657Tyr) c.4966G>T (p.Asp1656Tyr) n.5052G>T | dbSNP gnomAD v4 |
19 | g.38485625A= | CA2335046146 | RYR1 | c.4970A= (p.Asp1657=) c.4967A= (p.Asp1656=) n.5053A= | |
19 | g.38485625A>C | CA066555 | RYR1 | c.4970A>C (p.Asp1657Ala) c.4967A>C (p.Asp1656Ala) n.5053A>C | dbSNP ExAC |
19 | g.38485625A>G | CA405652711 | RYR1 | c.4970A>G (p.Asp1657Gly) c.4967A>G (p.Asp1656Gly) n.5053A>G | gnomAD v4 |
19 | g.38485625A>T | CA405652709 | RYR1 | c.4970A>T (p.Asp1657Val) c.4967A>T (p.Asp1656Val) n.5053A>T | |
19 | g.38485626C>A | CA405652718 | RYR1 | c.4971C>A (p.Asp1657Glu) c.4968C>A (p.Asp1656Glu) n.5054C>A | |
19 | g.38485626C= | CA2335046147 | RYR1 | c.4971C= (p.Asp1657=) c.4968C= (p.Asp1656=) n.5054C= | |
19 | g.38485626C>G | CA405652721 | RYR1 | c.4971C>G (p.Asp1657Glu) c.4968C>G (p.Asp1656Glu) n.5054C>G | gnomAD v4 |
19 | g.38485626C>T | CA066559 | RYR1 | c.4971C>T (p.Asp1657=) c.4968C>T (p.Asp1656=) n.5054C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485627C>A | CA405652727 | RYR1 | c.4972C>A (p.Leu1658Met) c.4969C>A (p.Leu1657Met) n.5055C>A | |
19 | g.38485627C= | CA2335046148 | RYR1 | c.4972C= (p.Leu1658=) c.4969C= (p.Leu1657=) n.5055C= | |
19 | g.38485627C>G | CA405652730 | RYR1 | c.4972C>G (p.Leu1658Val) c.4969C>G (p.Leu1657Val) n.5055C>G | |
19 | g.38485627C>T | CA066562 | RYR1 | c.4972C>T (p.Leu1658=) c.4969C>T (p.Leu1657=) n.5055C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485627_38485634delinsCTGCAGCG | CA2335046149 | RYR1 | c.4972_4979delinsCTGCAGCG (p.Leu1658=) c.4969_4976delinsCTGCAGCG (p.Leu1657=) n.5055_5062delinsCTGCAGCG | |
19 | g.38485628T>A | CA405652747 | RYR1 | c.4973T>A (p.Leu1658Gln) c.4970T>A (p.Leu1657Gln) n.5056T>A | |
19 | g.38485628T>C | CA405652750 | RYR1 | c.4973T>C (p.Leu1658Pro) c.4970T>C (p.Leu1657Pro) n.5056T>C | |
19 | g.38485628T>G | CA405652755 | RYR1 | c.4973T>G (p.Leu1658Arg) c.4970T>G (p.Leu1657Arg) n.5056T>G | |
19 | g.38485628_38485634del | CA507238353 | RYR1 | c.4973_4979del (p.Leu1658ProfsTer29) c.4970_4976del (p.Leu1657ProfsTer29) n.5056_5062del | dbSNP |
19 | g.38485629G>A | CA507238354 | RYR1 | c.4974G>A (p.Leu1658=) c.4971G>A (p.Leu1657=) n.5057G>A | gnomAD v4 |
19 | g.38485629G>C | CA507238356 | RYR1 | c.4974G>C (p.Leu1658=) c.4971G>C (p.Leu1657=) n.5057G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485629G= | CA2335046150 | RYR1 | c.4974G= (p.Leu1658=) c.4971G= (p.Leu1657=) n.5057G= | |
19 | g.38485629G>T | CA507238361 | RYR1 | c.4974G>T (p.Leu1658=) c.4971G>T (p.Leu1657=) n.5057G>T | gnomAD v4 |
19 | g.38485629_38485635del | CA405652761 | RYR1 | c.4974_4980del (p.Gln1659SerfsTer28) c.4971_4977del (p.Gln1658SerfsTer28) n.5057_5063del | |
19 | g.38485630C>A | CA405652764 | RYR1 | c.4975C>A (p.Gln1659Lys) c.4972C>A (p.Gln1658Lys) n.5058C>A | gnomAD v4 |
19 | g.38485630C>G | CA405652768 | RYR1 | c.4975C>G (p.Gln1659Glu) c.4972C>G (p.Gln1658Glu) n.5058C>G | |
19 | g.38485630C>T | CA081680 | RYR1 | c.4975C>T (p.Gln1659Ter) c.4972C>T (p.Gln1658Ter) n.5058C>T | gnomAD v4 |
19 | g.38485631A= | CA2335046151 | RYR1 | c.4976A= (p.Gln1659=) c.4973A= (p.Gln1658=) n.5059A= | |
19 | g.38485631A>C | CA405652773 | RYR1 | c.4976A>C (p.Gln1659Pro) c.4973A>C (p.Gln1658Pro) n.5059A>C | |
19 | g.38485631A>G | CA066565 | RYR1 | c.4976A>G (p.Gln1659Arg) c.4973A>G (p.Gln1658Arg) n.5059A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485631A>T | CA405652771 | RYR1 | c.4976A>T (p.Gln1659Leu) c.4973A>T (p.Gln1658Leu) n.5059A>T | |
19 | g.38485632G>A | CA507238382 | RYR1 | c.4977G>A (p.Gln1659=) c.4974G>A (p.Gln1658=) n.5060G>A | gnomAD v4 COSMIC |
19 | g.38485632G>C | CA405652777 | RYR1 | c.4977G>C (p.Gln1659His) c.4974G>C (p.Gln1658His) n.5060G>C | |
19 | g.38485632G>T | CA405652786 | RYR1 | c.4977G>T (p.Gln1659His) c.4974G>T (p.Gln1658His) n.5060G>T | gnomAD v4 |
19 | g.38485633C>A | CA405652788 | RYR1 | c.4978C>A (p.Arg1660Ser) c.4975C>A (p.Arg1659Ser) n.5061C>A | gnomAD v4 COSMIC |
19 | g.38485633C= | CA2335046152 | RYR1 | c.4978C= (p.Arg1660=) c.4975C= (p.Arg1659=) n.5061C= | |
19 | g.38485633C>G | CA405652791 | RYR1 | c.4978C>G (p.Arg1660Gly) c.4975C>G (p.Arg1659Gly) n.5061C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485633C>T | CA405652794 | RYR1 | c.4978C>T (p.Arg1660Cys) c.4975C>T (p.Arg1659Cys) n.5061C>T | gnomAD v4 |
19 | g.38485634G>A | CA066568 | RYR1 | c.4979G>A (p.Arg1660His) c.4976G>A (p.Arg1659His) n.5062G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485634G>C | CA066571 | RYR1 | c.4979G>C (p.Arg1660Pro) c.4976G>C (p.Arg1659Pro) n.5062G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485634G= | CA2335046153 | RYR1 | c.4979G= (p.Arg1660=) c.4976G= (p.Arg1659=) n.5062G= | |
19 | g.38485634G>T | CA405652796 | RYR1 | c.4979G>T (p.Arg1660Leu) c.4976G>T (p.Arg1659Leu) n.5062G>T | gnomAD v4 COSMIC |
19 | g.38485635C>A | CA507238397 | RYR1 | c.4980C>A (p.Arg1660=) c.4977C>A (p.Arg1659=) n.5063C>A | |
19 | g.38485635C= | CA2335046154 | RYR1 | c.4980C= (p.Arg1660=) c.4977C= (p.Arg1659=) n.5063C= | |
19 | g.38485635C>G | CA507238399 | RYR1 | c.4980C>G (p.Arg1660=) c.4977C>G (p.Arg1659=) n.5063C>G | |
19 | g.38485635C>T | CA066575 | RYR1 | c.4980C>T (p.Arg1660=) c.4977C>T (p.Arg1659=) n.5063C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485636T>A | CA405652797 | RYR1 | c.4981T>A (p.Phe1661Ile) c.4978T>A (p.Phe1660Ile) n.5064T>A | |
19 | g.38485636T>C | CA405652799 | RYR1 | c.4981T>C (p.Phe1661Leu) c.4978T>C (p.Phe1660Leu) n.5064T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485636T>G | CA405652809 | RYR1 | c.4981T>G (p.Phe1661Val) c.4978T>G (p.Phe1660Val) n.5064T>G | |
19 | g.38485636T= | CA2335046155 | RYR1 | c.4981T= (p.Phe1661=) c.4978T= (p.Phe1660=) n.5064T= | |
19 | g.38485637T>A | CA405652812 | RYR1 | c.4982T>A (p.Phe1661Tyr) c.4979T>A (p.Phe1660Tyr) n.5065T>A | |
19 | g.38485637T>C | CA405652818 | RYR1 | c.4982T>C (p.Phe1661Ser) c.4979T>C (p.Phe1660Ser) n.5065T>C | |
19 | g.38485637T>G | CA405652815 | RYR1 | c.4982T>G (p.Phe1661Cys) c.4979T>G (p.Phe1660Cys) n.5065T>G | |
19 | g.38485638C>A | CA405652822 | RYR1 | c.4983C>A (p.Phe1661Leu) c.4980C>A (p.Phe1660Leu) n.5066C>A | |
19 | g.38485638C= | CA2335046156 | RYR1 | c.4983C= (p.Phe1661=) c.4980C= (p.Phe1660=) n.5066C= | |
19 | g.38485638C>G | CA405652827 | RYR1 | c.4983C>G (p.Phe1661Leu) c.4980C>G (p.Phe1660Leu) n.5066C>G | |
19 | g.38485638C>T | CA066577 | RYR1 | c.4983C>T (p.Phe1661=) c.4980C>T (p.Phe1660=) n.5066C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485639C>A | CA405652834 | RYR1 | c.4984C>A (p.His1662Asn) c.4981C>A (p.His1661Asn) n.5067C>A | |
19 | g.38485639C>G | CA405652838 | RYR1 | c.4984C>G (p.His1662Asp) c.4981C>G (p.His1661Asp) n.5067C>G | |
19 | g.38485639C>T | CA405652839 | RYR1 | c.4984C>T (p.His1662Tyr) c.4981C>T (p.His1661Tyr) n.5067C>T | |
19 | g.38485640A= | CA2335046157 | RYR1 | c.4985A= (p.His1662=) c.4982A= (p.His1661=) n.5068A= | |
19 | g.38485640A>C | CA405652843 | RYR1 | c.4985A>C (p.His1662Pro) c.4982A>C (p.His1661Pro) n.5068A>C | |
19 | g.38485640A>G | CA405652847 | RYR1 | c.4985A>G (p.His1662Arg) c.4982A>G (p.His1661Arg) n.5068A>G | ClinVar dbSNP |
19 | g.38485640A>T | CA405652849 | RYR1 | c.4985A>T (p.His1662Leu) c.4982A>T (p.His1661Leu) n.5068A>T | |
19 | g.38485641C>A | CA405652851 | RYR1 | c.4986C>A (p.His1662Gln) c.4983C>A (p.His1661Gln) n.5069C>A | |
19 | g.38485641C= | CA2335046158 | RYR1 | c.4986C= (p.His1662=) c.4983C= (p.His1661=) n.5069C= | |
19 | g.38485641C>G | CA405652855 | RYR1 | c.4986C>G (p.His1662Gln) c.4983C>G (p.His1661Gln) n.5069C>G | |
19 | g.38485641C>T | CA081664 | RYR1 | c.4986C>T (p.His1662=) c.4983C>T (p.His1661=) n.5069C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485642T>A | CA405652858 | RYR1 | c.4987T>A (p.Ser1663Thr) c.4984T>A (p.Ser1662Thr) n.5070T>A | |
19 | g.38485642T>C | CA405652861 | RYR1 | c.4987T>C (p.Ser1663Pro) c.4984T>C (p.Ser1662Pro) n.5070T>C | |
19 | g.38485642T>G | CA405652864 | RYR1 | c.4987T>G (p.Ser1663Ala) c.4984T>G (p.Ser1662Ala) n.5070T>G | dbSNP |
19 | g.38485642T= | CA2335046159 | RYR1 | c.4987T= (p.Ser1663=) c.4984T= (p.Ser1662=) n.5070T= | |
19 | g.38485643C>A | CA405652880 | RYR1 | c.4988C>A (p.Ser1663Ter) c.4985C>A (p.Ser1662Ter) n.5071C>A | gnomAD v4 |
19 | g.38485643C= | CA2335046160 | RYR1 | c.4988C= (p.Ser1663=) c.4985C= (p.Ser1662=) n.5071C= | |
19 | g.38485643C>G | CA405652874 | RYR1 | c.4988C>G (p.Ser1663Trp) c.4985C>G (p.Ser1662Trp) n.5071C>G | ClinVar dbSNP gnomAD v4 |
19 | g.38485643C>T | CA405652870 | RYR1 | c.4988C>T (p.Ser1663Leu) c.4985C>T (p.Ser1662Leu) n.5071C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485644G>A | CA308092900 | RYR1 | c.4989G>A (p.Ser1663=) c.4986G>A (p.Ser1662=) n.5072G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38485644G>C | CA507238440 | RYR1 | c.4989G>C (p.Ser1663=) c.4986G>C (p.Ser1662=) n.5072G>C | |
19 | g.38485644G= | CA2335046161 | RYR1 | c.4989G= (p.Ser1663=) c.4986G= (p.Ser1662=) n.5072G= | |
19 | g.38485644G>T | CA507238437 | RYR1 | c.4989G>T (p.Ser1663=) c.4986G>T (p.Ser1662=) n.5072G>T | dbSNP gnomAD v4 |
19 | g.38485645C>A | CA405652888 | RYR1 | c.4990C>A (p.His1664Asn) c.4987C>A (p.His1663Asn) n.5073C>A | |
19 | g.38485645C= | CA2335046162 | RYR1 | c.4990C= (p.His1664=) c.4987C= (p.His1663=) n.5073C= | |
19 | g.38485645C>G | CA405652889 | RYR1 | c.4990C>G (p.His1664Asp) c.4987C>G (p.His1663Asp) n.5073C>G | |
19 | g.38485645C>T | CA405652890 | RYR1 | c.4990C>T (p.His1664Tyr) c.4987C>T (p.His1663Tyr) n.5073C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485646A= | CA2335046163 | RYR1 | c.4991A= (p.His1664=) c.4988A= (p.His1663=) n.5074A= | |
19 | g.38485646A>C | CA405652891 | RYR1 | c.4991A>C (p.His1664Pro) c.4988A>C (p.His1663Pro) n.5074A>C | |
19 | g.38485646A>G | CA405652892 | RYR1 | c.4991A>G (p.His1664Arg) c.4988A>G (p.His1663Arg) n.5074A>G | |
19 | g.38485646A>T | CA066579 | RYR1 | c.4991A>T (p.His1664Leu) c.4988A>T (p.His1663Leu) n.5074A>T | dbSNP ExAC gnomAD v2 |
19 | g.38485647C>A | CA405652895 | RYR1 | c.4992C>A (p.His1664Gln) c.4989C>A (p.His1663Gln) n.5075C>A | |
19 | g.38485647C>G | CA405652896 | RYR1 | c.4992C>G (p.His1664Gln) c.4989C>G (p.His1663Gln) n.5075C>G | gnomAD v4 |
19 | g.38485647C>T | CA507238450 | RYR1 | c.4992C>T (p.His1664=) c.4989C>T (p.His1663=) n.5075C>T | |
19 | g.38485648A= | CA2335046164 | RYR1 | c.4993A= (p.Thr1665=) c.4990A= (p.Thr1664=) n.5076A= | |
19 | g.38485648A>C | CA405652899 | RYR1 | c.4993A>C (p.Thr1665Pro) c.4990A>C (p.Thr1664Pro) n.5076A>C | dbSNP |
19 | g.38485648A>G | CA405652902 | RYR1 | c.4993A>G (p.Thr1665Ala) c.4990A>G (p.Thr1664Ala) n.5076A>G | |
19 | g.38485648A>T | CA405652906 | RYR1 | c.4993A>T (p.Thr1665Ser) c.4990A>T (p.Thr1664Ser) n.5076A>T | |
19 | g.38485649C>A | CA405652916 | RYR1 | c.4994C>A (p.Thr1665Asn) c.4991C>A (p.Thr1664Asn) n.5077C>A | gnomAD v4 |
19 | g.38485649C= | CA2335046165 | RYR1 | c.4994C= (p.Thr1665=) c.4991C= (p.Thr1664=) n.5077C= | |
19 | g.38485649C>G | CA405652914 | RYR1 | c.4994C>G (p.Thr1665Ser) c.4991C>G (p.Thr1664Ser) n.5077C>G | |
19 | g.38485649C>T | CA405652910 | RYR1 | c.4994C>T (p.Thr1665Ile) c.4991C>T (p.Thr1664Ile) n.5077C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485650C>A | CA507238452 | RYR1 | c.4995C>A (p.Thr1665=) c.4992C>A (p.Thr1664=) n.5078C>A | gnomAD v4 |
19 | g.38485650C>G | CA507238454 | RYR1 | c.4995C>G (p.Thr1665=) c.4992C>G (p.Thr1664=) n.5078C>G | ClinVar gnomAD v4 COSMIC |
19 | g.38485650C>T | CA507238453 | RYR1 | c.4995C>T (p.Thr1665=) c.4992C>T (p.Thr1664=) n.5078C>T | gnomAD v4 |
19 | g.38485651C>A | CA405652918 | RYR1 | c.4996C>A (p.Leu1666Met) c.4993C>A (p.Leu1665Met) n.5079C>A | dbSNP gnomAD v2 |
19 | g.38485651C= | CA2335046166 | RYR1 | c.4996C= (p.Leu1666=) c.4993C= (p.Leu1665=) n.5079C= | |
19 | g.38485651C>G | CA405652920 | RYR1 | c.4996C>G (p.Leu1666Val) c.4993C>G (p.Leu1665Val) n.5079C>G | gnomAD v4 |
19 | g.38485651C>T | CA507238458 | RYR1 | c.4996C>T (p.Leu1666=) c.4993C>T (p.Leu1665=) n.5079C>T | ClinVar gnomAD v4 |
19 | g.38485652T>A | CA405652922 | RYR1 | c.4997T>A (p.Leu1666Gln) c.4994T>A (p.Leu1665Gln) n.5080T>A | |
19 | g.38485652T>C | CA405652924 | RYR1 | c.4997T>C (p.Leu1666Pro) c.4994T>C (p.Leu1665Pro) n.5080T>C | gnomAD v4 |
19 | g.38485652T>G | CA405652925 | RYR1 | c.4997T>G (p.Leu1666Arg) c.4994T>G (p.Leu1665Arg) n.5080T>G | |
19 | g.38485653G>A | CA507238461 | RYR1 | c.4998G>A (p.Leu1666=) c.4995G>A (p.Leu1665=) n.5081G>A | dbSNP gnomAD v4 |
19 | g.38485653G>C | CA507238462 | RYR1 | c.4998G>C (p.Leu1666=) c.4995G>C (p.Leu1665=) n.5081G>C | |
19 | g.38485653G= | CA2335046167 | RYR1 | c.4998G= (p.Leu1666=) c.4995G= (p.Leu1665=) n.5081G= | |
19 | g.38485653G>T | CA507238464 | RYR1 | c.4998G>T (p.Leu1666=) c.4995G>T (p.Leu1665=) n.5081G>T | |
19 | g.38485654C>A | CA405652929 | RYR1 | c.4999C>A (p.Arg1667Ser) c.4996C>A (p.Arg1666Ser) n.5082C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485654C= | CA2335046168 | RYR1 | c.4999C= (p.Arg1667=) c.4996C= (p.Arg1666=) n.5082C= | |
19 | g.38485654C>G | CA405652932 | RYR1 | c.4999C>G (p.Arg1667Gly) c.4996C>G (p.Arg1666Gly) n.5082C>G | |
19 | g.38485654C>T | CA212170 | RYR1 | c.4999C>T (p.Arg1667Cys) c.4996C>T (p.Arg1666Cys) n.5082C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485654_38485681delinsCGCCTCTACCGCGCTGTGTGCGCCCTGG | CA2335046169 | RYR1 | c.4999_5026delinsCGCCTCTACCGCGCTGTGTGCGCCCTGG (p.Arg1667=) c.4996_5023delinsCGCCTCTACCGCGCTGTGTGCGCCCTGG (p.Arg1666=) n.5082_5109delinsCGCCTCTACCGCGCTGTGTGCGCCCTGG | |
19 | g.38485655G>A | CA066587 | RYR1 | c.5000G>A (p.Arg1667His) c.4997G>A (p.Arg1666His) n.5083G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485655G>C | CA405652938 | RYR1 | c.5000G>C (p.Arg1667Pro) c.4997G>C (p.Arg1666Pro) n.5083G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485655G= | CA2335046170 | RYR1 | c.5000G= (p.Arg1667=) c.4997G= (p.Arg1666=) n.5083G= | |
19 | g.38485655G>T | CA405652941 | RYR1 | c.5000G>T (p.Arg1667Leu) c.4997G>T (p.Arg1666Leu) n.5083G>T | gnomAD v4 |
19 | g.38485657_38485683del | CA9415806 | RYR1 | c.5002_5028del (p.Leu1668_Gly1676del) c.4999_5025del (p.Leu1667_Gly1675del) n.5085_5111del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485656C>A | CA507238471 | RYR1 | c.5001C>A (p.Arg1667=) c.4998C>A (p.Arg1666=) n.5084C>A | dbSNP |
19 | g.38485656C>G | CA507238474 | RYR1 | c.5001C>G (p.Arg1667=) c.4998C>G (p.Arg1666=) n.5084C>G | |
19 | g.38485656C>T | CA507238476 | RYR1 | c.5001C>T (p.Arg1667=) c.4998C>T (p.Arg1666=) n.5084C>T |