Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38510624T>A | CA633066691 | RYR1 | c.9001-36T>A (n.9001-36T>A) c.8998-36T>A (n.8998-36T>A) c.2453-36T>A n.9084-36T>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38510624T>C | CA2576771366 | RYR1 | c.9001-36T>C (n.9001-36T>C) c.8998-36T>C (n.8998-36T>C) c.2453-36T>C n.9084-36T>C | |
19 | g.38510624T= | CA2335058848 | RYR1 | c.9001-36T= (n.9001-36T=) c.8998-36T= (n.8998-36T=) c.2453-36T= n.9084-36T= | |
19 | g.38510625C= | CA2335058849 | RYR1 | c.9001-35C= (n.9001-35C=) c.8998-35C= (n.8998-35C=) c.2453-35C= n.9084-35C= | |
19 | g.38510625C>T | CA882059693 | RYR1 | c.9001-35C>T (n.9001-35C>T) c.8998-35C>T (n.8998-35C>T) c.2453-35C>T n.9084-35C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510626A>G | CA2584902831 | RYR1 | c.9001-34A>G (n.9001-34A>G) c.8998-34A>G (n.8998-34A>G) c.2453-34A>G n.9084-34A>G | gnomAD v4 |
19 | g.38510626A>T | CA2584902832 | RYR1 | c.9001-34A>T (n.9001-34A>T) c.8998-34A>T (n.8998-34A>T) c.2453-34A>T n.9084-34A>T | gnomAD v4 |
19 | g.38510627T>C | CA073068 | RYR1 | c.9001-33T>C (n.9001-33T>C) c.8998-33T>C (n.8998-33T>C) c.2453-33T>C n.9084-33T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510627T= | CA2335058850 | RYR1 | c.9001-33T= (n.9001-33T=) c.8998-33T= (n.8998-33T=) c.2453-33T= n.9084-33T= | |
19 | g.38510629G= | CA2335058851 | RYR1 | c.9001-31G= (n.9001-31G=) c.8998-31G= (n.8998-31G=) c.2453-31G= n.9084-31G= | |
19 | g.38510629G>T | CA073066 | RYR1 | c.9001-31G>T (n.9001-31G>T) c.8998-31G>T (n.8998-31G>T) c.2453-31G>T n.9084-31G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38510630G>C | CA2584902833 | RYR1 | c.9001-30G>C (n.9001-30G>C) c.8998-30G>C (n.8998-30G>C) c.2453-30G>C n.9084-30G>C | gnomAD v4 |
19 | g.38510634C>T | CA2736033273 | RYR1 | c.9001-26C>T (n.9001-26C>T) c.8998-26C>T (n.8998-26C>T) c.2453-26C>T n.9084-26C>T | dbSNP |
19 | g.38510636T>G | CA073060 | RYR1 | c.9001-24T>G (n.9001-24T>G) c.8998-24T>G (n.8998-24T>G) c.2453-24T>G n.9084-24T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38510636T= | CA2335058852 | RYR1 | c.9001-24T= (n.9001-24T=) c.8998-24T= (n.8998-24T=) c.2453-24T= n.9084-24T= | |
19 | g.38510637T>C | CA995728498 | RYR1 | c.9001-23T>C (n.9001-23T>C) c.8998-23T>C (n.8998-23T>C) c.2453-23T>C n.9084-23T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510637T= | CA2335058853 | RYR1 | c.9001-23T= (n.9001-23T=) c.8998-23T= (n.8998-23T=) c.2453-23T= n.9084-23T= | |
19 | g.38510638A= | CA2335058854 | RYR1 | c.9001-22A= (n.9001-22A=) c.8998-22A= (n.8998-22A=) c.2453-22A= n.9084-22A= | |
19 | g.38510638A>G | CA2576771367 | RYR1 | c.9001-22A>G (n.9001-22A>G) c.8998-22A>G (n.8998-22A>G) c.2453-22A>G n.9084-22A>G | dbSNP gnomAD v4 |
19 | g.38510638A>T | CA308123232 | RYR1 | c.9001-22A>T (n.9001-22A>T) c.8998-22A>T (n.8998-22A>T) c.2453-22A>T n.9084-22A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510639T>G | CA084300 | RYR1 | c.9001-21T>G (n.9001-21T>G) c.8998-21T>G (n.8998-21T>G) c.2453-21T>G n.9084-21T>G | |
19 | g.38510640C= | CA2335058855 | RYR1 | c.9001-20C= (n.9001-20C=) c.8998-20C= (n.8998-20C=) c.2453-20C= n.9084-20C= | |
19 | g.38510640C>G | CA633066692 | RYR1 | c.9001-20C>G (n.9001-20C>G) c.8998-20C>G (n.8998-20C>G) c.2453-20C>G n.9084-20C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38510640C>T | CA308123233 | RYR1 | c.9001-20C>T (n.9001-20C>T) c.8998-20C>T (n.8998-20C>T) c.2453-20C>T n.9084-20C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510641T= | CA2335058856 | RYR1 | c.9001-19T= (n.9001-19T=) c.8998-19T= (n.8998-19T=) c.2453-19T= n.9084-19T= | |
19 | g.38510646dup | CA995728502 | RYR1 | c.9001-14dup (n.9001-14dup) c.8998-14dup (n.8998-14dup) c.2453-14dup n.9084-14dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510643C= | CA2335058857 | RYR1 | c.9001-17C= (n.9001-17C=) c.8998-17C= (n.8998-17C=) c.2453-17C= n.9084-17C= | |
19 | g.38510643C>G | CA633066693 | RYR1 | c.9001-17C>G (n.9001-17C>G) c.8998-17C>G (n.8998-17C>G) c.2453-17C>G n.9084-17C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38510645C>A | CA073057 | RYR1 | c.9001-15C>A (n.9001-15C>A) c.8998-15C>A (n.8998-15C>A) c.2453-15C>A n.9084-15C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510645C= | CA2335058858 | RYR1 | c.9001-15C= (n.9001-15C=) c.8998-15C= (n.8998-15C=) c.2453-15C= n.9084-15C= | |
19 | g.38510645C>G | CA073058 | RYR1 | c.9001-15C>G (n.9001-15C>G) c.8998-15C>G (n.8998-15C>G) c.2453-15C>G n.9084-15C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510646C>A | CA073053 | RYR1 | c.9001-14C>A (n.9001-14C>A) c.8998-14C>A (n.8998-14C>A) c.2453-14C>A n.9084-14C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510646C= | CA2335058859 | RYR1 | c.9001-14C= (n.9001-14C=) c.8998-14C= (n.8998-14C=) c.2453-14C= n.9084-14C= | |
19 | g.38510646C>T | CA2335058860 | RYR1 | c.9001-14C>T (n.9001-14C>T) c.8998-14C>T (n.8998-14C>T) c.2453-14C>T n.9084-14C>T | dbSNP gnomAD v4 |
19 | g.38510647A>C | CA2736033275 | RYR1 | c.9001-13A>C (n.9001-13A>C) c.8998-13A>C (n.8998-13A>C) c.2453-13A>C n.9084-13A>C | dbSNP |
19 | g.38510648A= | CA2335058861 | RYR1 | c.9001-12A= (n.9001-12A=) c.8998-12A= (n.8998-12A=) c.2453-12A= n.9084-12A= | |
19 | g.38510648A>G | CA633066694 | RYR1 | c.9001-12A>G (n.9001-12A>G) c.8998-12A>G (n.8998-12A>G) c.2453-12A>G n.9084-12A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510649C>A | CA084296 | RYR1 | c.9001-11C>A (n.9001-11C>A) c.8998-11C>A (n.8998-11C>A) c.2453-11C>A n.9084-11C>A | |
19 | g.38510650C>T | CA645612186 | RYR1 | c.9001-10C>T (n.9001-10C>T) c.8998-10C>T (n.8998-10C>T) c.2453-10C>T n.9084-10C>T | gnomAD v4 COSMIC |
19 | g.38510651C= | CA2335058862 | RYR1 | c.9001-9C= (n.9001-9C=) c.8998-9C= (n.8998-9C=) c.2453-9C= n.9084-9C= | |
19 | g.38510651C>G | CA2576771373 | RYR1 | c.9001-9C>G (n.9001-9C>G) c.8998-9C>G (n.8998-9C>G) c.2453-9C>G n.9084-9C>G | ClinVar gnomAD v4 |
19 | g.38510651C>T | CA882059710 | RYR1 | c.9001-9C>T (n.9001-9C>T) c.8998-9C>T (n.8998-9C>T) c.2453-9C>T n.9084-9C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38510652G>A | CA073078 | RYR1 | c.9001-8G>A (n.9001-8G>A) c.8998-8G>A (n.8998-8G>A) c.2453-8G>A n.9084-8G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38510652G>C | CA633066695 | RYR1 | c.9001-8G>C (n.9001-8G>C) c.8998-8G>C (n.8998-8G>C) c.2453-8G>C n.9084-8G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38510652G= | CA2335058863 | RYR1 | c.9001-8G= (n.9001-8G=) c.8998-8G= (n.8998-8G=) c.2453-8G= n.9084-8G= | |
19 | g.38510653T>A | CA2584902834 | RYR1 | c.9001-7T>A (n.9001-7T>A) c.8998-7T>A (n.8998-7T>A) c.2453-7T>A n.9084-7T>A | gnomAD v4 |
19 | g.38510654C>A | CA2584902836 | RYR1 | c.9001-6C>A (n.9001-6C>A) c.8998-6C>A (n.8998-6C>A) c.2453-6C>A n.9084-6C>A | gnomAD v4 |
19 | g.38510654C>G | CA2584902835 | RYR1 | c.9001-6C>G (n.9001-6C>G) c.8998-6C>G (n.8998-6C>G) c.2453-6C>G n.9084-6C>G | gnomAD v4 |
19 | g.38510654C>T | CA2739276827 | RYR1 | c.9001-6C>T (n.9001-6C>T) c.8998-6C>T (n.8998-6C>T) c.2453-6C>T n.9084-6C>T | ClinVar |
19 | g.38510656C>A | CA2584902837 | RYR1 | c.9001-4C>A (n.9001-4C>A) c.8998-4C>A (n.8998-4C>A) c.2453-4C>A n.9084-4C>A | gnomAD v4 |
19 | g.38510658A= | CA2335058864 | RYR1 | c.9001-2A= (n.9001-2A=) c.8998-2A= (n.8998-2A=) c.2453-2A= n.9084-2A= | |
19 | g.38510658A>C | CA405683535 | RYR1 | c.9001-2A>C (n.9001-2A>C) c.8998-2A>C (n.8998-2A>C) c.2453-2A>C n.9084-2A>C | |
19 | g.38510658A>G | CA073062 | RYR1 | c.9001-2A>G (n.9001-2A>G) c.8998-2A>G (n.8998-2A>G) c.2453-2A>G n.9084-2A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38510658A>T | CA405683538 | RYR1 | c.9001-2A>T (n.9001-2A>T) c.8998-2A>T (n.8998-2A>T) c.2453-2A>T n.9084-2A>T | |
19 | g.38510659G>A | CA405683541 | RYR1 | c.9001-1G>A (n.9001-1G>A) c.8998-1G>A (n.8998-1G>A) c.2453-1G>A n.9084-1G>A | |
19 | g.38510659G>C | CA405683544 | RYR1 | c.9001-1G>C (n.9001-1G>C) c.8998-1G>C (n.8998-1G>C) c.2453-1G>C n.9084-1G>C | |
19 | g.38510659G>T | CA405683545 | RYR1 | c.9001-1G>T (n.9001-1G>T) c.8998-1G>T (n.8998-1G>T) c.2453-1G>T n.9084-1G>T | |
19 | g.38510660A>C | CA405683548 | RYR1 | c.9001A>C (p.Ile3001Leu) c.8998A>C (p.Ile3000Leu) c.2453A>C n.9084A>C | |
19 | g.38510660A>G | CA405683550 | RYR1 | c.9001A>G (p.Ile3001Val) c.8998A>G (p.Ile3000Val) c.2453A>G n.9084A>G | |
19 | g.38510660A>T | CA405683552 | RYR1 | c.9001A>T (p.Ile3001Phe) c.8998A>T (p.Ile3000Phe) c.2453A>T n.9084A>T | |
19 | g.38510661T>A | CA405683557 | RYR1 | c.9002T>A (p.Ile3001Asn) c.8999T>A (p.Ile3000Asn) c.2454T>A n.9085T>A | |
19 | g.38510661T>C | CA405683555 | RYR1 | c.9002T>C (p.Ile3001Thr) c.8999T>C (p.Ile3000Thr) c.2454T>C n.9085T>C | |
19 | g.38510661T>G | CA405683553 | RYR1 | c.9002T>G (p.Ile3001Ser) c.8999T>G (p.Ile3000Ser) c.2454T>G n.9085T>G | |
19 | g.38510662C>A | CA507246195 | RYR1 | c.9003C>A (p.Ile3001=) c.9000C>A (p.Ile3000=) c.2455C>A n.9086C>A | |
19 | g.38510662C= | CA2335058865 | RYR1 | c.9003C= (p.Ile3001=) c.9000C= (p.Ile3000=) c.2455C= n.9086C= | |
19 | g.38510662C>G | CA405683558 | RYR1 | c.9003C>G (p.Ile3001Met) c.9000C>G (p.Ile3000Met) c.2455C>G n.9086C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510662C>T | CA507246196 | RYR1 | c.9003C>T (p.Ile3001=) c.9000C>T (p.Ile3000=) c.2455C>T n.9086C>T | COSMIC |
19 | g.38510663del | CA2584902838 | RYR1 | c.9004del (p.Leu3002CysfsTer4) c.9001del (p.Leu3001CysfsTer4) c.2456del n.9087del | gnomAD v4 |
19 | g.38510663C>A | CA405683559 | RYR1 | c.9004C>A (p.Leu3002Met) c.9001C>A (p.Leu3001Met) c.2456C>A n.9087C>A | |
19 | g.38510663C>G | CA405683561 | RYR1 | c.9004C>G (p.Leu3002Val) c.9001C>G (p.Leu3001Val) c.2456C>G n.9087C>G | |
19 | g.38510663C>T | CA507246197 | RYR1 | c.9004C>T (p.Leu3002=) c.9001C>T (p.Leu3001=) c.2456C>T n.9087C>T | |
19 | g.38510664T>A | CA405683563 | RYR1 | c.9005T>A (p.Leu3002Gln) c.9002T>A (p.Leu3001Gln) c.2457T>A n.9088T>A | |
19 | g.38510664T>C | CA405683565 | RYR1 | c.9005T>C (p.Leu3002Pro) c.9002T>C (p.Leu3001Pro) c.2457T>C n.9088T>C | |
19 | g.38510664T>G | CA405683567 | RYR1 | c.9005T>G (p.Leu3002Arg) c.9002T>G (p.Leu3001Arg) c.2457T>G n.9088T>G | |
19 | g.38510665G>A | CA507246198 | RYR1 | c.9006G>A (p.Leu3002=) c.9003G>A (p.Leu3001=) c.2458G>A n.9089G>A | ClinVar |
19 | g.38510665G>C | CA507246200 | RYR1 | c.9006G>C (p.Leu3002=) c.9003G>C (p.Leu3001=) c.2458G>C n.9089G>C | ClinVar dbSNP |
19 | g.38510665G= | CA2335058866 | RYR1 | c.9006G= (p.Leu3002=) c.9003G= (p.Leu3001=) c.2458G= n.9089G= | |
19 | g.38510665G>T | CA507246199 | RYR1 | c.9006G>T (p.Leu3002=) c.9003G>T (p.Leu3001=) c.2458G>T n.9089G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510666C>A | CA405683570 | RYR1 | c.9007C>A (p.Leu3003Ile) c.9004C>A (p.Leu3002Ile) c.2459C>A n.9090C>A | |
19 | g.38510666C= | CA2335058867 | RYR1 | c.9007C= (p.Leu3003=) c.9004C= (p.Leu3002=) c.2459C= n.9090C= | |
19 | g.38510666C>G | CA405683572 | RYR1 | c.9007C>G (p.Leu3003Val) c.9004C>G (p.Leu3002Val) c.2459C>G n.9090C>G | ClinVar dbSNP gnomAD v4 |
19 | g.38510666C>T | CA405683573 | RYR1 | c.9007C>T (p.Leu3003Phe) c.9004C>T (p.Leu3002Phe) c.2459C>T n.9090C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38510667T>A | CA405683575 | RYR1 | c.9008T>A (p.Leu3003His) c.9005T>A (p.Leu3002His) c.2460T>A n.9091T>A | |
19 | g.38510667T>C | CA405683577 | RYR1 | c.9008T>C (p.Leu3003Pro) c.9005T>C (p.Leu3002Pro) c.2460T>C n.9091T>C | |
19 | g.38510667T>G | CA405683579 | RYR1 | c.9008T>G (p.Leu3003Arg) c.9005T>G (p.Leu3002Arg) c.2460T>G n.9091T>G | |
19 | g.38510668C>A | CA507246202 | RYR1 | c.9009C>A (p.Leu3003=) c.9006C>A (p.Leu3002=) c.2461C>A n.9092C>A | |
19 | g.38510668C= | CA2335058868 | RYR1 | c.9009C= (p.Leu3003=) c.9006C= (p.Leu3002=) c.2461C= n.9092C= | |
19 | g.38510668C>G | CA507246201 | RYR1 | c.9009C>G (p.Leu3003=) c.9006C>G (p.Leu3002=) c.2461C>G n.9092C>G | |
19 | g.38510668C>T | CA073082 | RYR1 | c.9009C>T (p.Leu3003=) c.9006C>T (p.Leu3002=) c.2461C>T n.9092C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510669C>A | CA405683586 | RYR1 | c.9010C>A (p.Pro3004Thr) c.9007C>A (p.Pro3003Thr) c.2462C>A n.9093C>A | |
19 | g.38510669C>G | CA405683584 | RYR1 | c.9010C>G (p.Pro3004Ala) c.9007C>G (p.Pro3003Ala) c.2462C>G n.9093C>G | |
19 | g.38510669C>T | CA405683582 | RYR1 | c.9010C>T (p.Pro3004Ser) c.9007C>T (p.Pro3003Ser) c.2462C>T n.9093C>T | |
19 | g.38510670C>A | CA405683587 | RYR1 | c.9011C>A (p.Pro3004His) c.9008C>A (p.Pro3003His) c.2463C>A n.9094C>A | |
19 | g.38510670C>G | CA405683589 | RYR1 | c.9011C>G (p.Pro3004Arg) c.9008C>G (p.Pro3003Arg) c.2463C>G n.9094C>G | |
19 | g.38510670C>T | CA405683591 | RYR1 | c.9011C>T (p.Pro3004Leu) c.9008C>T (p.Pro3003Leu) c.2463C>T n.9094C>T | |
19 | g.38510671T>A | CA507246203 | RYR1 | c.9012T>A (p.Pro3004=) c.9009T>A (p.Pro3003=) c.2464T>A n.9095T>A | |
19 | g.38510671T>C | CA507246205 | RYR1 | c.9012T>C (p.Pro3004=) c.9009T>C (p.Pro3003=) c.2464T>C n.9095T>C | |
19 | g.38510671T>G | CA507246204 | RYR1 | c.9012T>G (p.Pro3004=) c.9009T>G (p.Pro3003=) c.2464T>G n.9095T>G | |
19 | g.38510672T>A | CA405683593 | RYR1 | c.9013T>A (p.Leu3005Met) c.9010T>A (p.Leu3004Met) c.2465T>A n.9096T>A | ClinVar dbSNP |
19 | g.38510672T>C | CA507246206 | RYR1 | c.9013T>C (p.Leu3005=) c.9010T>C (p.Leu3004=) c.2465T>C n.9096T>C | |
19 | g.38510672T>G | CA405683595 | RYR1 | c.9013T>G (p.Leu3005Val) c.9010T>G (p.Leu3004Val) c.2465T>G n.9096T>G | |
19 | g.38510672T= | CA2335058869 | RYR1 | c.9013T= (p.Leu3005=) c.9010T= (p.Leu3004=) c.2465T= n.9096T= | |
19 | g.38510673T>A | CA405683597 | RYR1 | c.9014T>A (p.Leu3005Ter) c.9011T>A (p.Leu3004Ter) c.2466T>A n.9097T>A | |
19 | g.38510673T>C | CA073085 | RYR1 | c.9014T>C (p.Leu3005Ser) c.9011T>C (p.Leu3004Ser) c.2466T>C n.9097T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510673T>G | CA405683601 | RYR1 | c.9014T>G (p.Leu3005Trp) c.9011T>G (p.Leu3004Trp) c.2466T>G n.9097T>G | |
19 | g.38510673T= | CA2335058870 | RYR1 | c.9014T= (p.Leu3005=) c.9011T= (p.Leu3004=) c.2466T= n.9097T= | |
19 | g.38510674G>A | CA507246207 | RYR1 | c.9015G>A (p.Leu3005=) c.9012G>A (p.Leu3004=) c.2467G>A n.9098G>A | |
19 | g.38510674G>C | CA405683603 | RYR1 | c.9015G>C (p.Leu3005Phe) c.9012G>C (p.Leu3004Phe) c.2467G>C n.9098G>C | |
19 | g.38510674G>T | CA405683605 | RYR1 | c.9015G>T (p.Leu3005Phe) c.9012G>T (p.Leu3004Phe) c.2467G>T n.9098G>T | COSMIC |
19 | g.38510675A>C | CA405683607 | RYR1 | c.9016A>C (p.Ile3006Leu) c.9013A>C (p.Ile3005Leu) c.2468A>C n.9099A>C | |
19 | g.38510675A>G | CA405683608 | RYR1 | c.9016A>G (p.Ile3006Val) c.9013A>G (p.Ile3005Val) c.2468A>G n.9099A>G | |
19 | g.38510675A>T | CA405683609 | RYR1 | c.9016A>T (p.Ile3006Phe) c.9013A>T (p.Ile3005Phe) c.2468A>T n.9099A>T | |
19 | g.38510676T>A | CA405683611 | RYR1 | c.9017T>A (p.Ile3006Asn) c.9014T>A (p.Ile3005Asn) c.2469T>A n.9100T>A | |
19 | g.38510676T>C | CA084313 | RYR1 | c.9017T>C (p.Ile3006Thr) c.9014T>C (p.Ile3005Thr) c.2469T>C n.9100T>C | |
19 | g.38510676T>G | CA405683610 | RYR1 | c.9017T>G (p.Ile3006Ser) c.9014T>G (p.Ile3005Ser) c.2469T>G n.9100T>G | |
19 | g.38510677C>A | CA507246208 | RYR1 | c.9018C>A (p.Ile3006=) c.9015C>A (p.Ile3005=) c.2470C>A n.9101C>A | |
19 | g.38510677C>G | CA405683612 | RYR1 | c.9018C>G (p.Ile3006Met) c.9015C>G (p.Ile3005Met) c.2470C>G n.9101C>G | |
19 | g.38510677C>T | CA507246209 | RYR1 | c.9018C>T (p.Ile3006=) c.9015C>T (p.Ile3005=) c.2470C>T n.9101C>T | |
19 | g.38510678A>C | CA405683615 | RYR1 | c.9019A>C (p.Asn3007His) c.9016A>C (p.Asn3006His) c.2471A>C n.9102A>C | |
19 | g.38510678A>G | CA405683613 | RYR1 | c.9019A>G (p.Asn3007Asp) c.9016A>G (p.Asn3006Asp) c.2471A>G n.9102A>G | |
19 | g.38510678A>T | CA405683614 | RYR1 | c.9019A>T (p.Asn3007Tyr) c.9016A>T (p.Asn3006Tyr) c.2471A>T n.9102A>T | |
19 | g.38510679A= | CA2335058871 | RYR1 | c.9020A= (p.Asn3007=) c.9017A= (p.Asn3006=) c.2472A= n.9103A= | |
19 | g.38510679A>C | CA405683616 | RYR1 | c.9020A>C (p.Asn3007Thr) c.9017A>C (p.Asn3006Thr) c.2472A>C n.9103A>C | |
19 | g.38510679A>G | CA405683617 | RYR1 | c.9020A>G (p.Asn3007Ser) c.9017A>G (p.Asn3006Ser) c.2472A>G n.9103A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510679A>T | CA405683618 | RYR1 | c.9020A>T (p.Asn3007Ile) c.9017A>T (p.Asn3006Ile) c.2472A>T n.9103A>T | |
19 | g.38510680C>A | CA405683619 | RYR1 | c.9021C>A (p.Asn3007Lys) c.9018C>A (p.Asn3006Lys) c.2473C>A n.9104C>A | |
19 | g.38510680C>G | CA405683621 | RYR1 | c.9021C>G (p.Asn3007Lys) c.9018C>G (p.Asn3006Lys) c.2473C>G n.9104C>G | |
19 | g.38510680C>T | CA507246210 | RYR1 | c.9021C>T (p.Asn3007=) c.9018C>T (p.Asn3006=) c.2473C>T n.9104C>T | |
19 | g.38510681C>A | CA405683622 | RYR1 | c.9022C>A (p.Gln3008Lys) c.9019C>A (p.Gln3007Lys) c.2474C>A n.9105C>A | |
19 | g.38510681C>G | CA405683623 | RYR1 | c.9022C>G (p.Gln3008Glu) c.9019C>G (p.Gln3007Glu) c.2474C>G n.9105C>G | |
19 | g.38510681C>T | CA405683624 | RYR1 | c.9022C>T (p.Gln3008Ter) c.9019C>T (p.Gln3007Ter) c.2474C>T n.9105C>T | |
19 | g.38510682A>C | CA405683626 | RYR1 | c.9023A>C (p.Gln3008Pro) c.9020A>C (p.Gln3007Pro) c.2475A>C n.9106A>C | |
19 | g.38510682A>G | CA405683627 | RYR1 | c.9023A>G (p.Gln3008Arg) c.9020A>G (p.Gln3007Arg) c.2475A>G n.9106A>G | |
19 | g.38510682A>T | CA405683628 | RYR1 | c.9023A>T (p.Gln3008Leu) c.9020A>T (p.Gln3007Leu) c.2475A>T n.9106A>T | |
19 | g.38510683G>A | CA507246211 | RYR1 | c.9024G>A (p.Gln3008=) c.9021G>A (p.Gln3007=) c.2476G>A n.9107G>A | |
19 | g.38510683G>C | CA405683629 | RYR1 | c.9024G>C (p.Gln3008His) c.9021G>C (p.Gln3007His) c.2476G>C n.9107G>C | |
19 | g.38510683G>T | CA405683630 | RYR1 | c.9024G>T (p.Gln3008His) c.9021G>T (p.Gln3007His) c.2476G>T n.9107G>T | |
19 | g.38510684T>A | CA405683632 | RYR1 | c.9025T>A (p.Tyr3009Asn) c.9022T>A (p.Tyr3008Asn) c.2477T>A n.9108T>A | |
19 | g.38510684T>C | CA405683634 | RYR1 | c.9025T>C (p.Tyr3009His) c.9022T>C (p.Tyr3008His) c.2477T>C n.9108T>C | |
19 | g.38510684T>G | CA405683635 | RYR1 | c.9025T>G (p.Tyr3009Asp) c.9022T>G (p.Tyr3008Asp) c.2477T>G n.9108T>G | |
19 | g.38510685A>C | CA405683637 | RYR1 | c.9026A>C (p.Tyr3009Ser) c.9023A>C (p.Tyr3008Ser) c.2478A>C n.9109A>C | gnomAD v4 |
19 | g.38510685A>G | CA405683638 | RYR1 | c.9026A>G (p.Tyr3009Cys) c.9023A>G (p.Tyr3008Cys) c.2478A>G n.9109A>G | gnomAD v4 |
19 | g.38510685A>T | CA405683640 | RYR1 | c.9026A>T (p.Tyr3009Phe) c.9023A>T (p.Tyr3008Phe) c.2478A>T n.9109A>T | |
19 | g.38510686C>A | CA405683641 | RYR1 | c.9027C>A (p.Tyr3009Ter) c.9024C>A (p.Tyr3008Ter) c.2479C>A n.9110C>A | ClinVar |
19 | g.38510686C>G | CA405683643 | RYR1 | c.9027C>G (p.Tyr3009Ter) c.9024C>G (p.Tyr3008Ter) c.2479C>G n.9110C>G | |
19 | g.38510686C>T | CA507246212 | RYR1 | c.9027C>T (p.Tyr3009=) c.9024C>T (p.Tyr3008=) c.2479C>T n.9110C>T | |
19 | g.38510687T>A | CA405683644 | RYR1 | c.9028T>A (p.Phe3010Ile) c.9025T>A (p.Phe3009Ile) c.2480T>A n.9111T>A | |
19 | g.38510687T>C | CA405683646 | RYR1 | c.9028T>C (p.Phe3010Leu) c.9025T>C (p.Phe3009Leu) c.2480T>C n.9111T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510687T>G | CA405683648 | RYR1 | c.9028T>G (p.Phe3010Val) c.9025T>G (p.Phe3009Val) c.2480T>G n.9111T>G | ClinVar gnomAD v4 |
19 | g.38510687T= | CA2335058872 | RYR1 | c.9028T= (p.Phe3010=) c.9025T= (p.Phe3009=) c.2480T= n.9111T= | |
19 | g.38510688T>A | CA405683654 | RYR1 | c.9029T>A (p.Phe3010Tyr) c.9026T>A (p.Phe3009Tyr) c.2481T>A n.9112T>A | |
19 | g.38510688T>C | CA405683652 | RYR1 | c.9029T>C (p.Phe3010Ser) c.9026T>C (p.Phe3009Ser) c.2481T>C n.9112T>C | |
19 | g.38510688T>G | CA405683650 | RYR1 | c.9029T>G (p.Phe3010Cys) c.9026T>G (p.Phe3009Cys) c.2481T>G n.9112T>G | |
19 | g.38510689C>A | CA405683655 | RYR1 | c.9030C>A (p.Phe3010Leu) c.9027C>A (p.Phe3009Leu) c.2482C>A n.9113C>A | |
19 | g.38510689C= | CA2335058873 | RYR1 | c.9030C= (p.Phe3010=) c.9027C= (p.Phe3009=) c.2482C= n.9113C= | |
19 | g.38510689C>G | CA405683656 | RYR1 | c.9030C>G (p.Phe3010Leu) c.9027C>G (p.Phe3009Leu) c.2482C>G n.9113C>G | |
19 | g.38510689C>T | CA507246213 | RYR1 | c.9030C>T (p.Phe3010=) c.9027C>T (p.Phe3009=) c.2482C>T n.9113C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38510690A= | CA2335058874 | RYR1 | c.9031A= (p.Thr3011=) c.9028A= (p.Thr3010=) c.2483A= n.9114A= | |
19 | g.38510690A>C | CA405683659 | RYR1 | c.9031A>C (p.Thr3011Pro) c.9028A>C (p.Thr3010Pro) c.2483A>C n.9114A>C | dbSNP |
19 | g.38510690A>G | CA405683660 | RYR1 | c.9031A>G (p.Thr3011Ala) c.9028A>G (p.Thr3010Ala) c.2483A>G n.9114A>G | |
19 | g.38510690A>T | CA405683662 | RYR1 | c.9031A>T (p.Thr3011Ser) c.9028A>T (p.Thr3010Ser) c.2483A>T n.9114A>T | |
19 | g.38510691C>A | CA405683664 | RYR1 | c.9032C>A (p.Thr3011Asn) c.9029C>A (p.Thr3010Asn) c.2484C>A n.9115C>A | |
19 | g.38510691C= | CA2335058875 | RYR1 | c.9032C= (p.Thr3011=) c.9029C= (p.Thr3010=) c.2484C= n.9115C= | |
19 | g.38510691C>G | CA405683666 | RYR1 | c.9032C>G (p.Thr3011Ser) c.9029C>G (p.Thr3010Ser) c.2484C>G n.9115C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510691C>T | CA084289 | RYR1 | c.9032C>T (p.Thr3011Ile) c.9029C>T (p.Thr3010Ile) c.2484C>T n.9115C>T | dbSNP gnomAD v4 |
19 | g.38510692C>A | CA507246214 | RYR1 | c.9033C>A (p.Thr3011=) c.9030C>A (p.Thr3010=) c.2485C>A n.9116C>A | |
19 | g.38510692C>G | CA507246215 | RYR1 | c.9033C>G (p.Thr3011=) c.9030C>G (p.Thr3010=) c.2485C>G n.9116C>G | |
19 | g.38510692C>T | CA507246216 | RYR1 | c.9033C>T (p.Thr3011=) c.9030C>T (p.Thr3010=) c.2485C>T n.9116C>T | |
19 | g.38510693A>C | CA405683667 | RYR1 | c.9034A>C (p.Asn3012His) c.9031A>C (p.Asn3011His) c.2486A>C n.9117A>C | gnomAD v4 |
19 | g.38510693A>G | CA405683669 | RYR1 | c.9034A>G (p.Asn3012Asp) c.9031A>G (p.Asn3011Asp) c.2486A>G n.9117A>G | ClinVar |
19 | g.38510693A>T | CA405683671 | RYR1 | c.9034A>T (p.Asn3012Tyr) c.9031A>T (p.Asn3011Tyr) c.2486A>T n.9117A>T | |
19 | g.38510694A= | CA2335058876 | RYR1 | c.9035A= (p.Asn3012=) c.9032A= (p.Asn3011=) c.2487A= n.9118A= | |
19 | g.38510694A>C | CA405683674 | RYR1 | c.9035A>C (p.Asn3012Thr) c.9032A>C (p.Asn3011Thr) c.2487A>C n.9118A>C | |
19 | g.38510694A>G | CA073092 | RYR1 | c.9035A>G (p.Asn3012Ser) c.9032A>G (p.Asn3011Ser) c.2487A>G n.9118A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38510694A>T | CA405683677 | RYR1 | c.9035A>T (p.Asn3012Ile) c.9032A>T (p.Asn3011Ile) c.2487A>T n.9118A>T | |
19 | g.38510695C>A | CA405683679 | RYR1 | c.9036C>A (p.Asn3012Lys) c.9033C>A (p.Asn3011Lys) c.2488C>A n.9119C>A | |
19 | g.38510695C>G | CA405683681 | RYR1 | c.9036C>G (p.Asn3012Lys) c.9033C>G (p.Asn3011Lys) c.2488C>G n.9119C>G | gnomAD v4 |
19 | g.38510695C>T | CA507246217 | RYR1 | c.9036C>T (p.Asn3012=) c.9033C>T (p.Asn3011=) c.2488C>T n.9119C>T | |
19 | g.38510696C>A | CA405683682 | RYR1 | c.9037C>A (p.His3013Asn) c.9034C>A (p.His3012Asn) c.2489C>A n.9120C>A | |
19 | g.38510696C>G | CA405683684 | RYR1 | c.9037C>G (p.His3013Asp) c.9034C>G (p.His3012Asp) c.2489C>G n.9120C>G | ClinVar |
19 | g.38510696C>T | CA405683685 | RYR1 | c.9037C>T (p.His3013Tyr) c.9034C>T (p.His3012Tyr) c.2489C>T n.9120C>T | |
19 | g.38510697A>C | CA405683686 | RYR1 | c.9038A>C (p.His3013Pro) c.9035A>C (p.His3012Pro) c.2490A>C n.9121A>C | |
19 | g.38510697A>G | CA084316 | RYR1 | c.9038A>G (p.His3013Arg) c.9035A>G (p.His3012Arg) c.2490A>G n.9121A>G | |
19 | g.38510697A>T | CA405683688 | RYR1 | c.9038A>T (p.His3013Leu) c.9035A>T (p.His3012Leu) c.2490A>T n.9121A>T | |
19 | g.38510698C>A | CA405683690 | RYR1 | c.9039C>A (p.His3013Gln) c.9036C>A (p.His3012Gln) c.2491C>A n.9122C>A | |
19 | g.38510698C= | CA2335058877 | RYR1 | c.9039C= (p.His3013=) c.9036C= (p.His3012=) c.2491C= n.9122C= | |
19 | g.38510698C>G | CA405683692 | RYR1 | c.9039C>G (p.His3013Gln) c.9036C>G (p.His3012Gln) c.2491C>G n.9122C>G | |
19 | g.38510698C>T | CA507246218 | RYR1 | c.9039C>T (p.His3013=) c.9036C>T (p.His3012=) c.2491C>T n.9122C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510699T>A | CA405683694 | RYR1 | c.9040T>A (p.Cys3014Ser) c.9037T>A (p.Cys3013Ser) c.2492T>A n.9123T>A | |
19 | g.38510699T>C | CA405683695 | RYR1 | c.9040T>C (p.Cys3014Arg) c.9037T>C (p.Cys3013Arg) c.2492T>C n.9123T>C | |
19 | g.38510699T>G | CA405683697 | RYR1 | c.9040T>G (p.Cys3014Gly) c.9037T>G (p.Cys3013Gly) c.2492T>G n.9123T>G | |
19 | g.38510700G>A | CA405683704 | RYR1 | c.9041G>A (p.Cys3014Tyr) c.9038G>A (p.Cys3013Tyr) c.2493G>A n.9124G>A | |
19 | g.38510700G>C | CA405683702 | RYR1 | c.9041G>C (p.Cys3014Ser) c.9038G>C (p.Cys3013Ser) c.2493G>C n.9124G>C | |
19 | g.38510700G>T | CA405683700 | RYR1 | c.9041G>T (p.Cys3014Phe) c.9038G>T (p.Cys3013Phe) c.2493G>T n.9124G>T | |
19 | g.38510701C>A | CA405683706 | RYR1 | c.9042C>A (p.Cys3014Ter) c.9039C>A (p.Cys3013Ter) c.2494C>A n.9125C>A | |
19 | g.38510701C>G | CA405683707 | RYR1 | c.9042C>G (p.Cys3014Trp) c.9039C>G (p.Cys3013Trp) c.2494C>G n.9125C>G | |
19 | g.38510701C>T | CA507246219 | RYR1 | c.9042C>T (p.Cys3014=) c.9039C>T (p.Cys3013=) c.2494C>T n.9125C>T | |
19 | g.38510702C>A | CA405683710 | RYR1 | c.9043C>A (p.Leu3015Ile) c.9040C>A (p.Leu3014Ile) c.2495C>A n.9126C>A | |
19 | g.38510702C>G | CA405683712 | RYR1 | c.9043C>G (p.Leu3015Val) c.9040C>G (p.Leu3014Val) c.2495C>G n.9126C>G | |
19 | g.38510702C>T | CA405683711 | RYR1 | c.9043C>T (p.Leu3015Phe) c.9040C>T (p.Leu3014Phe) c.2495C>T n.9126C>T | |
19 | g.38510703T>A | CA405683714 | RYR1 | c.9044T>A (p.Leu3015His) c.9041T>A (p.Leu3014His) c.2496T>A n.9127T>A | |
19 | g.38510703T>C | CA405683716 | RYR1 | c.9044T>C (p.Leu3015Pro) c.9041T>C (p.Leu3014Pro) c.2496T>C n.9127T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510703T>G | CA405683717 | RYR1 | c.9044T>G (p.Leu3015Arg) c.9041T>G (p.Leu3014Arg) c.2496T>G n.9127T>G | |
19 | g.38510703T= | CA2335058878 | RYR1 | c.9044T= (p.Leu3015=) c.9041T= (p.Leu3014=) c.2496T= n.9127T= | |
19 | g.38510704C>A | CA507246222 | RYR1 | c.9045C>A (p.Leu3015=) c.9042C>A (p.Leu3014=) c.2497C>A n.9128C>A | |
19 | g.38510704C>G | CA507246221 | RYR1 | c.9045C>G (p.Leu3015=) c.9042C>G (p.Leu3014=) c.2497C>G n.9128C>G | COSMIC |
19 | g.38510704C>T | CA507246220 | RYR1 | c.9045C>T (p.Leu3015=) c.9042C>T (p.Leu3014=) c.2497C>T n.9128C>T | |
19 | g.38510705T>A | CA405683719 | RYR1 | c.9046T>A (p.Tyr3016Asn) c.9043T>A (p.Tyr3015Asn) c.2498T>A n.9129T>A | |
19 | g.38510705T>C | CA073096 | RYR1 | c.9046T>C (p.Tyr3016His) c.9043T>C (p.Tyr3015His) c.2498T>C n.9129T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38510705T>G | CA405683722 | RYR1 | c.9046T>G (p.Tyr3016Asp) c.9043T>G (p.Tyr3015Asp) c.2498T>G n.9129T>G | |
19 | g.38510705T= | CA2335058879 | RYR1 | c.9046T= (p.Tyr3016=) c.9043T= (p.Tyr3015=) c.2498T= n.9129T= | |
19 | g.38510706A= | CA2335058880 | RYR1 | c.9047A= (p.Tyr3016=) c.9044A= (p.Tyr3015=) c.2499A= n.9130A= | |
19 | g.38510706A>C | CA405683725 | RYR1 | c.9047A>C (p.Tyr3016Ser) c.9044A>C (p.Tyr3015Ser) c.2499A>C n.9130A>C | |
19 | g.38510706A>G | CA405683726 | RYR1 | c.9047A>G (p.Tyr3016Cys) c.9044A>G (p.Tyr3015Cys) c.2499A>G n.9130A>G | ClinVar dbSNP |
19 | g.38510706A>T | CA405683728 | RYR1 | c.9047A>T (p.Tyr3016Phe) c.9044A>T (p.Tyr3015Phe) c.2499A>T n.9130A>T | |
19 | g.38510707T>A | CA405683730 | RYR1 | c.9048T>A (p.Tyr3016Ter) c.9045T>A (p.Tyr3015Ter) c.2500T>A n.9131T>A | |
19 | g.38510707T>C | CA507246223 | RYR1 | c.9048T>C (p.Tyr3016=) c.9045T>C (p.Tyr3015=) c.2500T>C n.9131T>C | |
19 | g.38510707T>G | CA405683732 | RYR1 | c.9048T>G (p.Tyr3016Ter) c.9045T>G (p.Tyr3015Ter) c.2500T>G n.9131T>G | |
19 | g.38510708T>A | CA405683737 | RYR1 | c.9049T>A (p.Phe3017Ile) c.9046T>A (p.Phe3016Ile) c.2501T>A n.9132T>A | |
19 | g.38510708T>C | CA084318 | RYR1 | c.9049T>C (p.Phe3017Leu) c.9046T>C (p.Phe3016Leu) c.2501T>C n.9132T>C | |
19 | g.38510708T>G | CA405683734 | RYR1 | c.9049T>G (p.Phe3017Val) c.9046T>G (p.Phe3016Val) c.2501T>G n.9132T>G | |
19 | g.38510709T>A | CA405683738 | RYR1 | c.9050T>A (p.Phe3017Tyr) c.9047T>A (p.Phe3016Tyr) c.2502T>A n.9133T>A | |
19 | g.38510709T>C | CA405683739 | RYR1 | c.9050T>C (p.Phe3017Ser) c.9047T>C (p.Phe3016Ser) c.2502T>C n.9133T>C | |
19 | g.38510709T>G | CA405683741 | RYR1 | c.9050T>G (p.Phe3017Cys) c.9047T>G (p.Phe3016Cys) c.2502T>G n.9133T>G | |
19 | g.38510710C>A | CA405683744 | RYR1 | c.9051C>A (p.Phe3017Leu) c.9048C>A (p.Phe3016Leu) c.2503C>A n.9134C>A | gnomAD v4 COSMIC |
19 | g.38510710C= | CA2335058881 | RYR1 | c.9051C= (p.Phe3017=) c.9048C= (p.Phe3016=) c.2503C= n.9134C= | |
19 | g.38510710C>G | CA405683745 | RYR1 | c.9051C>G (p.Phe3017Leu) c.9048C>G (p.Phe3016Leu) c.2503C>G n.9134C>G | |
19 | g.38510710C>T | CA507246224 | RYR1 | c.9051C>T (p.Phe3017=) c.9048C>T (p.Phe3016=) c.2503C>T n.9134C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510711T>A | CA405683748 | RYR1 | c.9052T>A (p.Leu3018Met) c.9049T>A (p.Leu3017Met) c.2504T>A n.9135T>A | |
19 | g.38510711T>C | CA507246226 | RYR1 | c.9052T>C (p.Leu3018=) c.9049T>C (p.Leu3017=) c.2504T>C n.9135T>C | ClinVar dbSNP |
19 | g.38510711T>G | CA405683750 | RYR1 | c.9052T>G (p.Leu3018Val) c.9049T>G (p.Leu3017Val) c.2504T>G n.9135T>G | |
19 | g.38510711T= | CA2335058882 | RYR1 | c.9052T= (p.Leu3018=) c.9049T= (p.Leu3017=) c.2504T= n.9135T= | |
19 | g.38510712T>A | CA405683752 | RYR1 | c.9053T>A (p.Leu3018Ter) c.9050T>A (p.Leu3017Ter) c.2505T>A n.9136T>A | |
19 | g.38510712T>C | CA405683754 | RYR1 | c.9053T>C (p.Leu3018Ser) c.9050T>C (p.Leu3017Ser) c.2505T>C n.9136T>C | |
19 | g.38510712T>G | CA405683757 | RYR1 | c.9053T>G (p.Leu3018Trp) c.9050T>G (p.Leu3017Trp) c.2505T>G n.9136T>G | |
19 | g.38510713G>A | CA507246227 | RYR1 | c.9054G>A (p.Leu3018=) c.9051G>A (p.Leu3017=) c.2506G>A n.9137G>A | |
19 | g.38510713G>C | CA405683759 | RYR1 | c.9054G>C (p.Leu3018Phe) c.9051G>C (p.Leu3017Phe) c.2506G>C n.9137G>C | |
19 | g.38510713G>T | CA405683761 | RYR1 | c.9054G>T (p.Leu3018Phe) c.9051G>T (p.Leu3017Phe) c.2506G>T n.9137G>T | |
19 | g.38510714T>A | CA405683772 | RYR1 | c.9055T>A (p.Ser3019Thr) c.9052T>A (p.Ser3018Thr) c.2507T>A n.9138T>A | |
19 | g.38510714T>C | CA405683766 | RYR1 | c.9055T>C (p.Ser3019Pro) c.9052T>C (p.Ser3018Pro) c.2507T>C n.9138T>C | |
19 | g.38510714T>G | CA405683763 | RYR1 | c.9055T>G (p.Ser3019Ala) c.9052T>G (p.Ser3018Ala) c.2507T>G n.9138T>G | |
19 | g.38510715C>A | CA405683774 | RYR1 | c.9056C>A (p.Ser3019Tyr) c.9053C>A (p.Ser3018Tyr) c.2508C>A n.9139C>A | |
19 | g.38510715C= | CA2335058883 | RYR1 | c.9056C= (p.Ser3019=) c.9053C= (p.Ser3018=) c.2508C= n.9139C= | |
19 | g.38510715C>G | CA308123300 | RYR1 | c.9056C>G (p.Ser3019Cys) c.9053C>G (p.Ser3018Cys) c.2508C>G n.9139C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510715C>T | CA405683776 | RYR1 | c.9056C>T (p.Ser3019Phe) c.9053C>T (p.Ser3018Phe) c.2508C>T n.9139C>T | |
19 | g.38510716C>A | CA507246228 | RYR1 | c.9057C>A (p.Ser3019=) c.9054C>A (p.Ser3018=) c.2509C>A n.9140C>A | |
19 | g.38510716C= | CA2335058884 | RYR1 | c.9057C= (p.Ser3019=) c.9054C= (p.Ser3018=) c.2509C= n.9140C= | |
19 | g.38510716C>G | CA507246229 | RYR1 | c.9057C>G (p.Ser3019=) c.9054C>G (p.Ser3018=) c.2509C>G n.9140C>G | |
19 | g.38510716C>T | CA507246231 | RYR1 | c.9057C>T (p.Ser3019=) c.9054C>T (p.Ser3018=) c.2509C>T n.9140C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38510717A>C | CA405683777 | RYR1 | c.9058A>C (p.Thr3020Pro) c.9055A>C (p.Thr3019Pro) c.2510A>C n.9141A>C | |
19 | g.38510717A>G | CA405683778 | RYR1 | c.9058A>G (p.Thr3020Ala) c.9055A>G (p.Thr3019Ala) c.2510A>G n.9141A>G | COSMIC |
19 | g.38510717A>T | CA405683779 | RYR1 | c.9058A>T (p.Thr3020Ser) c.9055A>T (p.Thr3019Ser) c.2510A>T n.9141A>T | ClinVar |
19 | g.38510718C>A | CA405683780 | RYR1 | c.9059C>A (p.Thr3020Asn) c.9056C>A (p.Thr3019Asn) c.2511C>A n.9142C>A | |
19 | g.38510718C>G | CA405683781 | RYR1 | c.9059C>G (p.Thr3020Ser) c.9056C>G (p.Thr3019Ser) c.2511C>G n.9142C>G | |
19 | g.38510718C>T | CA405683782 | RYR1 | c.9059C>T (p.Thr3020Ile) c.9056C>T (p.Thr3019Ile) c.2511C>T n.9142C>T | gnomAD v4 |
19 | g.38510719T>A | CA507246235 | RYR1 | c.9060T>A (p.Thr3020=) c.9057T>A (p.Thr3019=) c.2512T>A n.9143T>A | |
19 | g.38510719T>C | CA507246236 | RYR1 | c.9060T>C (p.Thr3020=) c.9057T>C (p.Thr3019=) c.2512T>C n.9143T>C | |
19 | g.38510719T>G | CA507246234 | RYR1 | c.9060T>G (p.Thr3020=) c.9057T>G (p.Thr3019=) c.2512T>G n.9143T>G | |
19 | g.38510720C>A | CA405683783 | RYR1 | c.9061C>A (p.Pro3021Thr) c.9058C>A (p.Pro3020Thr) c.2513C>A n.9144C>A | |
19 | g.38510720C= | CA2335058885 | RYR1 | c.9061C= (p.Pro3021=) c.9058C= (p.Pro3020=) c.2513C= n.9144C= | |
19 | g.38510720C>G | CA405683784 | RYR1 | c.9061C>G (p.Pro3021Ala) c.9058C>G (p.Pro3020Ala) c.2513C>G n.9144C>G | |
19 | g.38510720C>T | CA405683786 | RYR1 | c.9061C>T (p.Pro3021Ser) c.9058C>T (p.Pro3020Ser) c.2513C>T n.9144C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38510721C>A | CA405683791 | RYR1 | c.9062C>A (p.Pro3021Gln) c.9059C>A (p.Pro3020Gln) c.2514C>A n.9145C>A | gnomAD v4 |
19 | g.38510721C= | CA2335058886 | RYR1 | c.9062C= (p.Pro3021=) c.9059C= (p.Pro3020=) c.2514C= n.9145C= | |
19 | g.38510721C>G | CA405683789 | RYR1 | c.9062C>G (p.Pro3021Arg) c.9059C>G (p.Pro3020Arg) c.2514C>G n.9145C>G | |
19 | g.38510721C>T | CA073098 | RYR1 | c.9062C>T (p.Pro3021Leu) c.9059C>T (p.Pro3020Leu) c.2514C>T n.9145C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510722G>A | CA073102 | RYR1 | c.9063G>A (p.Pro3021=) c.9060G>A (p.Pro3020=) c.2515G>A n.9146G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510722G>C | CA507246238 | RYR1 | c.9063G>C (p.Pro3021=) c.9060G>C (p.Pro3020=) c.2515G>C n.9146G>C | |
19 | g.38510722G= | CA2335058887 | RYR1 | c.9063G= (p.Pro3021=) c.9060G= (p.Pro3020=) c.2515G= n.9146G= | |
19 | g.38510722G>T | CA507246239 | RYR1 | c.9063G>T (p.Pro3021=) c.9060G>T (p.Pro3020=) c.2515G>T n.9146G>T | |
19 | g.38510723G>A | CA405683798 | RYR1 | c.9064G>A (p.Ala3022Thr) c.9061G>A (p.Ala3021Thr) c.2516G>A n.9147G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38510723G>C | CA405683800 | RYR1 | c.9064G>C (p.Ala3022Pro) c.9061G>C (p.Ala3021Pro) c.2516G>C n.9147G>C | |
19 | g.38510723G= | CA2335058888 | RYR1 | c.9064G= (p.Ala3022=) c.9061G= (p.Ala3021=) c.2516G= n.9147G= | |
19 | g.38510723G>T | CA405683802 | RYR1 | c.9064G>T (p.Ala3022Ser) c.9061G>T (p.Ala3021Ser) c.2516G>T n.9147G>T | |
19 | g.38510724C>A | CA405683804 | RYR1 | c.9065C>A (p.Ala3022Asp) c.9062C>A (p.Ala3021Asp) c.2517C>A n.9148C>A | |
19 | g.38510724C>G | CA405683805 | RYR1 | c.9065C>G (p.Ala3022Gly) c.9062C>G (p.Ala3021Gly) c.2517C>G n.9148C>G | |
19 | g.38510724C>T | CA084320 | RYR1 | c.9065C>T (p.Ala3022Val) c.9062C>T (p.Ala3021Val) c.2517C>T n.9148C>T |