Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38502464dup | CA069858 | RYR1 | c.7615-43dup (n.7615-43dup) c.7612-43dup (n.7612-43dup) c.1067-43dup n.7698-43dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502464del | CA2584900486 | RYR1 | c.7615-43del (n.7615-43del) c.7612-43del (n.7612-43del) c.1067-43del n.7698-43del | gnomAD v4 |
19 | g.38502480_38502481insACATCCCCAGGGGTGTGCAGCGGG | CA2584900485 | RYR1 | c.7615-27_7615-26insACATCCCCAGGGGTGTGCAGCGGG (n.7615-27_7615-26insACATCCCCAGGGGTGTGCAGCGGG) c.7612-27_7612-26insACATCCCCAGGGGTGTGCAGCGGG (n.7612-27_7612-26insACATCCCCAGGGGTGTGCAGCGGG) c.1067-27_1067-26insACATCCCCAGGGGTGTGCAGCGGG n.7698-27_7698-26insACATCCCCAGGGGTGTGCAGCGGG | gnomAD v4 |
19 | g.38502462C>A | CA2584900556 | RYR1 | c.7615-45C>A (n.7615-45C>A) c.7612-45C>A (n.7612-45C>A) c.1067-45C>A n.7698-45C>A | gnomAD v4 |
19 | g.38502462C>T | CA2584900555 | RYR1 | c.7615-45C>T (n.7615-45C>T) c.7612-45C>T (n.7612-45C>T) c.1067-45C>T n.7698-45C>T | gnomAD v4 |
19 | g.38502463C>A | CA2584900557 | RYR1 | c.7615-44C>A (n.7615-44C>A) c.7612-44C>A (n.7612-44C>A) c.1067-44C>A n.7698-44C>A | gnomAD v4 |
19 | g.38502463C= | CA2335054327 | RYR1 | c.7615-44C= (n.7615-44C=) c.7612-44C= (n.7612-44C=) c.1067-44C= n.7698-44C= | |
19 | g.38502463C>T | CA633066598 | RYR1 | c.7615-44C>T (n.7615-44C>T) c.7612-44C>T (n.7612-44C>T) c.1067-44C>T n.7698-44C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502464C>T | CA2584900558 | RYR1 | c.7615-43C>T (n.7615-43C>T) c.7612-43C>T (n.7612-43C>T) c.1067-43C>T n.7698-43C>T | gnomAD v4 |
19 | g.38502465A>G | CA2584900559 | RYR1 | c.7615-42A>G (n.7615-42A>G) c.7612-42A>G (n.7612-42A>G) c.1067-42A>G n.7698-42A>G | gnomAD v4 |
19 | g.38502466G>C | CA2584900560 | RYR1 | c.7615-41G>C (n.7615-41G>C) c.7612-41G>C (n.7612-41G>C) c.1067-41G>C n.7698-41G>C | gnomAD v4 |
19 | g.38502466G= | CA2335054328 | RYR1 | c.7615-41G= (n.7615-41G=) c.7612-41G= (n.7612-41G=) c.1067-41G= n.7698-41G= | |
19 | g.38502466G>T | CA069855 | RYR1 | c.7615-41G>T (n.7615-41G>T) c.7612-41G>T (n.7612-41G>T) c.1067-41G>T n.7698-41G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502469del | CA2584900561 | RYR1 | c.7615-38del (n.7615-38del) c.7612-38del (n.7612-38del) c.1067-38del n.7698-38del | gnomAD v4 |
19 | g.38502467G>A | CA069853 | RYR1 | c.7615-40G>A (n.7615-40G>A) c.7612-40G>A (n.7612-40G>A) c.1067-40G>A n.7698-40G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502467G>C | CA882053467 | RYR1 | c.7615-40G>C (n.7615-40G>C) c.7612-40G>C (n.7612-40G>C) c.1067-40G>C n.7698-40G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502467G= | CA2335054329 | RYR1 | c.7615-40G= (n.7615-40G=) c.7612-40G= (n.7612-40G=) c.1067-40G= n.7698-40G= | |
19 | g.38502467G>T | CA2576770952 | RYR1 | c.7615-40G>T (n.7615-40G>T) c.7612-40G>T (n.7612-40G>T) c.1067-40G>T n.7698-40G>T | gnomAD v4 |
19 | g.38502468G>A | CA069850 | RYR1 | c.7615-39G>A (n.7615-39G>A) c.7612-39G>A (n.7612-39G>A) c.1067-39G>A n.7698-39G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502468G>C | CA2584900562 | RYR1 | c.7615-39G>C (n.7615-39G>C) c.7612-39G>C (n.7612-39G>C) c.1067-39G>C n.7698-39G>C | gnomAD v4 |
19 | g.38502468G= | CA2335054330 | RYR1 | c.7615-39G= (n.7615-39G=) c.7612-39G= (n.7612-39G=) c.1067-39G= n.7698-39G= | |
19 | g.38502468G>T | CA2584900563 | RYR1 | c.7615-39G>T (n.7615-39G>T) c.7612-39G>T (n.7612-39G>T) c.1067-39G>T n.7698-39G>T | gnomAD v4 |
19 | g.38502469G>A | CA2584900564 | RYR1 | c.7615-38G>A (n.7615-38G>A) c.7612-38G>A (n.7612-38G>A) c.1067-38G>A n.7698-38G>A | gnomAD v4 |
19 | g.38502469G= | CA2335054331 | RYR1 | c.7615-38G= (n.7615-38G=) c.7612-38G= (n.7612-38G=) c.1067-38G= n.7698-38G= | |
19 | g.38502469G>T | CA082506 | RYR1 | c.7615-38G>T (n.7615-38G>T) c.7612-38G>T (n.7612-38G>T) c.1067-38G>T n.7698-38G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502470T>C | CA2584900565 | RYR1 | c.7615-37T>C (n.7615-37T>C) c.7612-37T>C (n.7612-37T>C) c.1067-37T>C n.7698-37T>C | gnomAD v4 |
19 | g.38502470T>G | CA2576770953 | RYR1 | c.7615-37T>G (n.7615-37T>G) c.7612-37T>G (n.7612-37T>G) c.1067-37T>G n.7698-37T>G | gnomAD v4 |
19 | g.38502471G>A | CA082504 | RYR1 | c.7615-36G>A (n.7615-36G>A) c.7612-36G>A (n.7612-36G>A) c.1067-36G>A n.7698-36G>A | |
19 | g.38502471G>T | CA2576770954 | RYR1 | c.7615-36G>T (n.7615-36G>T) c.7612-36G>T (n.7612-36G>T) c.1067-36G>T n.7698-36G>T | gnomAD v4 |
19 | g.38502472T>A | CA2576770955 | RYR1 | c.7615-35T>A (n.7615-35T>A) c.7612-35T>A (n.7612-35T>A) c.1067-35T>A n.7698-35T>A | |
19 | g.38502472T>C | CA995716961 | RYR1 | c.7615-35T>C (n.7615-35T>C) c.7612-35T>C (n.7612-35T>C) c.1067-35T>C n.7698-35T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502472T= | CA2335054332 | RYR1 | c.7615-35T= (n.7615-35T=) c.7612-35T= (n.7612-35T=) c.1067-35T= n.7698-35T= | |
19 | g.38502473G>A | CA2584900566 | RYR1 | c.7615-34G>A (n.7615-34G>A) c.7612-34G>A (n.7612-34G>A) c.1067-34G>A n.7698-34G>A | gnomAD v4 |
19 | g.38502473G>T | CA2584900567 | RYR1 | c.7615-34G>T (n.7615-34G>T) c.7612-34G>T (n.7612-34G>T) c.1067-34G>T n.7698-34G>T | gnomAD v4 |
19 | g.38502474C>A | CA2584900568 | RYR1 | c.7615-33C>A (n.7615-33C>A) c.7612-33C>A (n.7612-33C>A) c.1067-33C>A n.7698-33C>A | gnomAD v4 |
19 | g.38502474C>T | CA2584900569 | RYR1 | c.7615-33C>T (n.7615-33C>T) c.7612-33C>T (n.7612-33C>T) c.1067-33C>T n.7698-33C>T | gnomAD v4 |
19 | g.38502475A>G | CA2584900570 | RYR1 | c.7615-32A>G (n.7615-32A>G) c.7612-32A>G (n.7612-32A>G) c.1067-32A>G n.7698-32A>G | gnomAD v4 |
19 | g.38502475A>T | CA2584900571 | RYR1 | c.7615-32A>T (n.7615-32A>T) c.7612-32A>T (n.7612-32A>T) c.1067-32A>T n.7698-32A>T | gnomAD v4 |
19 | g.38502476G>A | CA2576770956 | RYR1 | c.7615-31G>A (n.7615-31G>A) c.7612-31G>A (n.7612-31G>A) c.1067-31G>A n.7698-31G>A | gnomAD v4 |
19 | g.38502476G>T | CA2584900572 | RYR1 | c.7615-31G>T (n.7615-31G>T) c.7612-31G>T (n.7612-31G>T) c.1067-31G>T n.7698-31G>T | gnomAD v4 |
19 | g.38502477C>A | CA2584900573 | RYR1 | c.7615-30C>A (n.7615-30C>A) c.7612-30C>A (n.7612-30C>A) c.1067-30C>A n.7698-30C>A | gnomAD v4 |
19 | g.38502477C= | CA2335054333 | RYR1 | c.7615-30C= (n.7615-30C=) c.7612-30C= (n.7612-30C=) c.1067-30C= n.7698-30C= | |
19 | g.38502477C>G | CA2584900574 | RYR1 | c.7615-30C>G (n.7615-30C>G) c.7612-30C>G (n.7612-30C>G) c.1067-30C>G n.7698-30C>G | gnomAD v4 |
19 | g.38502477C>T | CA308111712 | RYR1 | c.7615-30C>T (n.7615-30C>T) c.7612-30C>T (n.7612-30C>T) c.1067-30C>T n.7698-30C>T | dbSNP gnomAD v4 |
19 | g.38502478G>A | CA069847 | RYR1 | c.7615-29G>A (n.7615-29G>A) c.7612-29G>A (n.7612-29G>A) c.1067-29G>A n.7698-29G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502478G>C | CA2576770957 | RYR1 | c.7615-29G>C (n.7615-29G>C) c.7612-29G>C (n.7612-29G>C) c.1067-29G>C n.7698-29G>C | |
19 | g.38502478G= | CA2335054334 | RYR1 | c.7615-29G= (n.7615-29G=) c.7612-29G= (n.7612-29G=) c.1067-29G= n.7698-29G= | |
19 | g.38502478G>T | CA2576770958 | RYR1 | c.7615-29G>T (n.7615-29G>T) c.7612-29G>T (n.7612-29G>T) c.1067-29G>T n.7698-29G>T | gnomAD v4 |
19 | g.38502479G>A | CA308111727 | RYR1 | c.7615-28G>A (n.7615-28G>A) c.7612-28G>A (n.7612-28G>A) c.1067-28G>A n.7698-28G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502479G= | CA2335054335 | RYR1 | c.7615-28G= (n.7615-28G=) c.7612-28G= (n.7612-28G=) c.1067-28G= n.7698-28G= | |
19 | g.38502479G>T | CA633066599 | RYR1 | c.7615-28G>T (n.7615-28G>T) c.7612-28G>T (n.7612-28G>T) c.1067-28G>T n.7698-28G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502480G>A | CA2576770959 | RYR1 | c.7615-27G>A (n.7615-27G>A) c.7612-27G>A (n.7612-27G>A) c.1067-27G>A n.7698-27G>A | gnomAD v4 |
19 | g.38502480G= | CA2335054336 | RYR1 | c.7615-27G= (n.7615-27G=) c.7612-27G= (n.7612-27G=) c.1067-27G= n.7698-27G= | |
19 | g.38502480G>T | CA633066600 | RYR1 | c.7615-27G>T (n.7615-27G>T) c.7612-27G>T (n.7612-27G>T) c.1067-27G>T n.7698-27G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502481C>A | CA2584900575 | RYR1 | c.7615-26C>A (n.7615-26C>A) c.7612-26C>A (n.7612-26C>A) c.1067-26C>A n.7698-26C>A | gnomAD v4 |
19 | g.38502481C= | CA2335054337 | RYR1 | c.7615-26C= (n.7615-26C=) c.7612-26C= (n.7612-26C=) c.1067-26C= n.7698-26C= | |
19 | g.38502481C>T | CA633066601 | RYR1 | c.7615-26C>T (n.7615-26C>T) c.7612-26C>T (n.7612-26C>T) c.1067-26C>T n.7698-26C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502482C>A | CA2584900576 | RYR1 | c.7615-25C>A (n.7615-25C>A) c.7612-25C>A (n.7612-25C>A) c.1067-25C>A n.7698-25C>A | gnomAD v4 |
19 | g.38502482C>T | CA2584900577 | RYR1 | c.7615-25C>T (n.7615-25C>T) c.7612-25C>T (n.7612-25C>T) c.1067-25C>T n.7698-25C>T | gnomAD v4 |
19 | g.38502483T>A | CA2584900578 | RYR1 | c.7615-24T>A (n.7615-24T>A) c.7612-24T>A (n.7612-24T>A) c.1067-24T>A n.7698-24T>A | gnomAD v4 |
19 | g.38502483T>C | CA2584900579 | RYR1 | c.7615-24T>C (n.7615-24T>C) c.7612-24T>C (n.7612-24T>C) c.1067-24T>C n.7698-24T>C | gnomAD v4 |
19 | g.38502484G>A | CA2584900580 | RYR1 | c.7615-23G>A (n.7615-23G>A) c.7612-23G>A (n.7612-23G>A) c.1067-23G>A n.7698-23G>A | gnomAD v4 |
19 | g.38502484G>T | CA2584900581 | RYR1 | c.7615-23G>T (n.7615-23G>T) c.7612-23G>T (n.7612-23G>T) c.1067-23G>T n.7698-23G>T | gnomAD v4 |
19 | g.38502485A>G | CA2584900583 | RYR1 | c.7615-22A>G (n.7615-22A>G) c.7612-22A>G (n.7612-22A>G) c.1067-22A>G n.7698-22A>G | gnomAD v4 |
19 | g.38502486_38502493del | CA2584900582 | RYR1 | c.7615-21_7615-14del (n.7615-21_7615-14del) c.7612-21_7612-14del (n.7612-21_7612-14del) c.1067-21_1067-14del n.7698-21_7698-14del | gnomAD v4 |
19 | g.38502486T>C | CA2584900584 | RYR1 | c.7615-21T>C (n.7615-21T>C) c.7612-21T>C (n.7612-21T>C) c.1067-21T>C n.7698-21T>C | gnomAD v4 |
19 | g.38502487G>A | CA069845 | RYR1 | c.7615-20G>A (n.7615-20G>A) c.7612-20G>A (n.7612-20G>A) c.1067-20G>A n.7698-20G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502487G= | CA2335054338 | RYR1 | c.7615-20G= (n.7615-20G=) c.7612-20G= (n.7612-20G=) c.1067-20G= n.7698-20G= | |
19 | g.38502487G>T | CA2584900585 | RYR1 | c.7615-20G>T (n.7615-20G>T) c.7612-20G>T (n.7612-20G>T) c.1067-20G>T n.7698-20G>T | gnomAD v4 |
19 | g.38502488T>C | CA2576770960 | RYR1 | c.7615-19T>C (n.7615-19T>C) c.7612-19T>C (n.7612-19T>C) c.1067-19T>C n.7698-19T>C | |
19 | g.38502488_38502544delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA | CA2335054339 | RYR1 | c.7615-19_7652delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA c.7612-19_7649delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA c.1067-19_1104delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA n.7698-19_7735delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA | |
19 | g.38502489C>A | CA2584900586 | RYR1 | c.7615-18C>A (n.7615-18C>A) c.7612-18C>A (n.7612-18C>A) c.1067-18C>A n.7698-18C>A | gnomAD v4 |
19 | g.38502489C= | CA2335054340 | RYR1 | c.7615-18C= (n.7615-18C=) c.7612-18C= (n.7612-18C=) c.1067-18C= n.7698-18C= | |
19 | g.38502489C>T | CA308111730 | RYR1 | c.7615-18C>T (n.7615-18C>T) c.7612-18C>T (n.7612-18C>T) c.1067-18C>T n.7698-18C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502491_38502546del | CA633066602 | RYR1 | c.7615-16_7654del c.7612-16_7651del c.1067-16_1106del n.7698-16_7737del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502490C>A | CA2584900587 | RYR1 | c.7615-17C>A (n.7615-17C>A) c.7612-17C>A (n.7612-17C>A) c.1067-17C>A n.7698-17C>A | gnomAD v4 |
19 | g.38502490C= | CA2335054341 | RYR1 | c.7615-17C= (n.7615-17C=) c.7612-17C= (n.7612-17C=) c.1067-17C= n.7698-17C= | |
19 | g.38502490C>T | CA069841 | RYR1 | c.7615-17C>T (n.7615-17C>T) c.7612-17C>T (n.7612-17C>T) c.1067-17C>T n.7698-17C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502491T>C | CA069839 | RYR1 | c.7615-16T>C (n.7615-16T>C) c.7612-16T>C (n.7612-16T>C) c.1067-16T>C n.7698-16T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502491T= | CA2335054342 | RYR1 | c.7615-16T= (n.7615-16T=) c.7612-16T= (n.7612-16T=) c.1067-16T= n.7698-16T= | |
19 | g.38502492C= | CA2335054343 | RYR1 | c.7615-15C= (n.7615-15C=) c.7612-15C= (n.7612-15C=) c.1067-15C= n.7698-15C= | |
19 | g.38502492C>G | CA633066603 | RYR1 | c.7615-15C>G (n.7615-15C>G) c.7612-15C>G (n.7612-15C>G) c.1067-15C>G n.7698-15C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502493A= | CA2335054346 | RYR1 | c.7615-14A= (n.7615-14A=) c.7612-14A= (n.7612-14A=) c.1067-14A= n.7698-14A= | |
19 | g.38502493A>C | CA2335054345 | RYR1 | c.7615-14A>C (n.7615-14A>C) c.7612-14A>C (n.7612-14A>C) c.1067-14A>C n.7698-14A>C | dbSNP |
19 | g.38502493_38502494delinsAC | CA2335054344 | RYR1 | c.7615-14_7615-13delinsAC (n.7615-14_7615-13delinsAC) c.7612-14_7612-13delinsAC (n.7612-14_7612-13delinsAC) c.1067-14_1067-13delinsAC n.7698-14_7698-13delinsAC | |
19 | g.38502494C>A | CA633066604 | RYR1 | c.7615-13C>A (n.7615-13C>A) c.7612-13C>A (n.7612-13C>A) c.1067-13C>A n.7698-13C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502494C= | CA2335054347 | RYR1 | c.7615-13C= (n.7615-13C=) c.7612-13C= (n.7612-13C=) c.1067-13C= n.7698-13C= | |
19 | g.38502494C>T | CA633066605 | RYR1 | c.7615-13C>T (n.7615-13C>T) c.7612-13C>T (n.7612-13C>T) c.1067-13C>T n.7698-13C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502496del | CA308111771 | RYR1 | c.7615-11del (n.7615-11del) c.7612-11del (n.7612-11del) c.1067-11del n.7698-11del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502495C= | CA2335054348 | RYR1 | c.7615-12C= (n.7615-12C=) c.7612-12C= (n.7612-12C=) c.1067-12C= n.7698-12C= | |
19 | g.38502495C>G | CA2335054349 | RYR1 | c.7615-12C>G (n.7615-12C>G) c.7612-12C>G (n.7612-12C>G) c.1067-12C>G n.7698-12C>G | dbSNP |
19 | g.38502495C>T | CA2584900588 | RYR1 | c.7615-12C>T (n.7615-12C>T) c.7612-12C>T (n.7612-12C>T) c.1067-12C>T n.7698-12C>T | ClinVar gnomAD v4 |
19 | g.38502496C>A | CA2584900589 | RYR1 | c.7615-11C>A (n.7615-11C>A) c.7612-11C>A (n.7612-11C>A) c.1067-11C>A n.7698-11C>A | gnomAD v4 |
19 | g.38502496C= | CA2335054350 | RYR1 | c.7615-11C= (n.7615-11C=) c.7612-11C= (n.7612-11C=) c.1067-11C= n.7698-11C= | |
19 | g.38502496C>T | CA308111777 | RYR1 | c.7615-11C>T (n.7615-11C>T) c.7612-11C>T (n.7612-11C>T) c.1067-11C>T n.7698-11C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38502497T>A | CA2584900590 | RYR1 | c.7615-10T>A (n.7615-10T>A) c.7612-10T>A (n.7612-10T>A) c.1067-10T>A n.7698-10T>A | gnomAD v4 |
19 | g.38502497T>C | CA069836 | RYR1 | c.7615-10T>C (n.7615-10T>C) c.7612-10T>C (n.7612-10T>C) c.1067-10T>C n.7698-10T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502497T= | CA2335054351 | RYR1 | c.7615-10T= (n.7615-10T=) c.7612-10T= (n.7612-10T=) c.1067-10T= n.7698-10T= | |
19 | g.38502498G>A | CA2584900591 | RYR1 | c.7615-9G>A (n.7615-9G>A) c.7612-9G>A (n.7612-9G>A) c.1067-9G>A n.7698-9G>A | gnomAD v4 |
19 | g.38502498G>T | CA2584900592 | RYR1 | c.7615-9G>T (n.7615-9G>T) c.7612-9G>T (n.7612-9G>T) c.1067-9G>T n.7698-9G>T | gnomAD v4 |
19 | g.38502499C>A | CA2584900593 | RYR1 | c.7615-8C>A (n.7615-8C>A) c.7612-8C>A (n.7612-8C>A) c.1067-8C>A n.7698-8C>A | gnomAD v4 |
19 | g.38502499C= | CA2335054352 | RYR1 | c.7615-8C= (n.7615-8C=) c.7612-8C= (n.7612-8C=) c.1067-8C= n.7698-8C= | |
19 | g.38502499C>T | CA069871 | RYR1 | c.7615-8C>T (n.7615-8C>T) c.7612-8C>T (n.7612-8C>T) c.1067-8C>T n.7698-8C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502500_38502509del | CA995716973 | RYR1 | c.7615-7_7617del c.7612-7_7614del c.1067-7_1069del n.7698-7_7700del | gnomAD v3 gnomAD v4 |
19 | g.38502500G>A | CA069869 | RYR1 | c.7615-7G>A (n.7615-7G>A) c.7612-7G>A (n.7612-7G>A) c.1067-7G>A n.7698-7G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502500G= | CA2335054353 | RYR1 | c.7615-7G= (n.7615-7G=) c.7612-7G= (n.7612-7G=) c.1067-7G= n.7698-7G= | |
19 | g.38502500G>T | CA633066606 | RYR1 | c.7615-7G>T (n.7615-7G>T) c.7612-7G>T (n.7612-7G>T) c.1067-7G>T n.7698-7G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502501C>A | CA633066607 | RYR1 | c.7615-6C>A (n.7615-6C>A) c.7612-6C>A (n.7612-6C>A) c.1067-6C>A n.7698-6C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502501C= | CA2335054354 | RYR1 | c.7615-6C= (n.7615-6C=) c.7612-6C= (n.7612-6C=) c.1067-6C= n.7698-6C= | |
19 | g.38502501C>T | CA069867 | RYR1 | c.7615-6C>T (n.7615-6C>T) c.7612-6C>T (n.7612-6C>T) c.1067-6C>T n.7698-6C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502501_38502503del | CA995716999 | RYR1 | c.7615-6_7615-4del (n.7615-6_7615-4del) c.7612-6_7612-4del (n.7612-6_7612-4del) c.1067-6_1067-4del n.7698-6_7698-4del | gnomAD v3 gnomAD v4 |
19 | g.38502501_38502511del | CA995717005 | RYR1 | c.7615-6_7619del c.7612-6_7616del c.1067-6_1071del n.7698-6_7702del | gnomAD v3 gnomAD v4 |
19 | g.38502502C= | CA2335054355 | RYR1 | c.7615-5C= (n.7615-5C=) c.7612-5C= (n.7612-5C=) c.1067-5C= n.7698-5C= | |
19 | g.38502502C>T | CA024836 | RYR1 | c.7615-5C>T (n.7615-5C>T) c.7612-5C>T (n.7612-5C>T) c.1067-5C>T n.7698-5C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502503C= | CA2335054356 | RYR1 | c.7615-4C= (n.7615-4C=) c.7612-4C= (n.7612-4C=) c.1067-4C= n.7698-4C= | |
19 | g.38502503C>G | CA2518666717 | RYR1 | c.7615-4C>G (n.7615-4C>G) c.7612-4C>G (n.7612-4C>G) c.1067-4C>G n.7698-4C>G | ClinVar gnomAD v4 |
19 | g.38502503C>T | CA069860 | RYR1 | c.7615-4C>T (n.7615-4C>T) c.7612-4C>T (n.7612-4C>T) c.1067-4C>T n.7698-4C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502504T>A | CA2695228668 | RYR1 | c.7615-3T>A (n.7615-3T>A) c.7612-3T>A (n.7612-3T>A) c.1067-3T>A n.7698-3T>A | |
19 | g.38502504T>C | CA995717013 | RYR1 | c.7615-3T>C (n.7615-3T>C) c.7612-3T>C (n.7612-3T>C) c.1067-3T>C n.7698-3T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502504T>G | CA2739276779 | RYR1 | c.7615-3T>G (n.7615-3T>G) c.7612-3T>G (n.7612-3T>G) c.1067-3T>G n.7698-3T>G | ClinVar |
19 | g.38502504T= | CA2335054357 | RYR1 | c.7615-3T= (n.7615-3T=) c.7612-3T= (n.7612-3T=) c.1067-3T= n.7698-3T= | |
19 | g.38502504_38502505insTTTTTA | CA995717015 | RYR1 | c.7615-3_7615-2insTTTTTA (n.7615-3_7615-2insTTTTTA) c.7612-3_7612-2insTTTTTA (n.7612-3_7612-2insTTTTTA) c.1067-3_1067-2insTTTTTA n.7698-3_7698-2insTTTTTA | gnomAD v3 gnomAD v4 |
19 | g.38502505A>C | CA405671263 | RYR1 | c.7615-2A>C (n.7615-2A>C) c.7612-2A>C (n.7612-2A>C) c.1067-2A>C n.7698-2A>C | |
19 | g.38502505A>G | CA405671272 | RYR1 | c.7615-2A>G (n.7615-2A>G) c.7612-2A>G (n.7612-2A>G) c.1067-2A>G n.7698-2A>G | gnomAD v4 |
19 | g.38502505A>T | CA405671266 | RYR1 | c.7615-2A>T (n.7615-2A>T) c.7612-2A>T (n.7612-2A>T) c.1067-2A>T n.7698-2A>T | |
19 | g.38502506G>A | CA405671275 | RYR1 | c.7615-1G>A (n.7615-1G>A) c.7612-1G>A (n.7612-1G>A) c.1067-1G>A n.7698-1G>A | dbSNP gnomAD v2 |
19 | g.38502506G>C | CA405671277 | RYR1 | c.7615-1G>C (n.7615-1G>C) c.7612-1G>C (n.7612-1G>C) c.1067-1G>C n.7698-1G>C | gnomAD v4 |
19 | g.38502506G= | CA2335054358 | RYR1 | c.7615-1G= (n.7615-1G=) c.7612-1G= (n.7612-1G=) c.1067-1G= n.7698-1G= | |
19 | g.38502506G>T | CA405671278 | RYR1 | c.7615-1G>T (n.7615-1G>T) c.7612-1G>T (n.7612-1G>T) c.1067-1G>T n.7698-1G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502507G>A | CA405671281 | RYR1 | c.7615G>A (p.Ala2539Thr) c.7612G>A (p.Ala2538Thr) c.1067G>A n.7698G>A | dbSNP gnomAD v4 |
19 | g.38502507G>C | CA405671284 | RYR1 | c.7615G>C (p.Ala2539Pro) c.7612G>C (p.Ala2538Pro) c.1067G>C n.7698G>C | |
19 | g.38502507G= | CA2335054359 | RYR1 | c.7615G= (p.Ala2539=) c.7612G= (p.Ala2538=) c.1067G= n.7698G= | |
19 | g.38502507G>T | CA405671289 | RYR1 | c.7615G>T (p.Ala2539Ser) c.7612G>T (p.Ala2538Ser) c.1067G>T n.7698G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502508C>A | CA405671291 | RYR1 | c.7616C>A (p.Ala2539Asp) c.7613C>A (p.Ala2538Asp) c.1068C>A n.7699C>A | gnomAD v4 |
19 | g.38502508C= | CA2335054360 | RYR1 | c.7616C= (p.Ala2539=) c.7613C= (p.Ala2538=) c.1068C= n.7699C= | |
19 | g.38502508C>G | CA405671294 | RYR1 | c.7616C>G (p.Ala2539Gly) c.7613C>G (p.Ala2538Gly) c.1068C>G n.7699C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502508C>T | CA069875 | RYR1 | c.7616C>T (p.Ala2539Val) c.7613C>T (p.Ala2538Val) c.1068C>T n.7699C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502508_38502509del | CA995717029 | RYR1 | c.7616_7617del (p.Ala2539AspfsTer?) c.7613_7614del (p.Ala2538AspfsTer?) c.1068_1069del n.7699_7700del | gnomAD v3 gnomAD v4 |
19 | g.38502509C>A | CA507243683 | RYR1 | c.7617C>A (p.Ala2539=) c.7614C>A (p.Ala2538=) c.1069C>A n.7700C>A | gnomAD v4 |
19 | g.38502509C= | CA2335054361 | RYR1 | c.7617C= (p.Ala2539=) c.7614C= (p.Ala2538=) c.1069C= n.7700C= | |
19 | g.38502509C>G | CA507243684 | RYR1 | c.7617C>G (p.Ala2539=) c.7614C>G (p.Ala2538=) c.1069C>G n.7700C>G | |
19 | g.38502509C>T | CA069878 | RYR1 | c.7617C>T (p.Ala2539=) c.7614C>T (p.Ala2538=) c.1069C>T n.7700C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502510A= | CA2335054362 | RYR1 | c.7618A= (p.Thr2540=) c.7615A= (p.Thr2539=) c.1070A= n.7701A= | |
19 | g.38502510A>C | CA405671302 | RYR1 | c.7618A>C (p.Thr2540Pro) c.7615A>C (p.Thr2539Pro) c.1070A>C n.7701A>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502510A>G | CA405671305 | RYR1 | c.7618A>G (p.Thr2540Ala) c.7615A>G (p.Thr2539Ala) c.1070A>G n.7701A>G | |
19 | g.38502510A>T | CA405671299 | RYR1 | c.7618A>T (p.Thr2540Ser) c.7615A>T (p.Thr2539Ser) c.1070A>T n.7701A>T | |
19 | g.38502511C>A | CA405671311 | RYR1 | c.7619C>A (p.Thr2540Asn) c.7616C>A (p.Thr2539Asn) c.1071C>A n.7702C>A | |
19 | g.38502511C= | CA2335054363 | RYR1 | c.7619C= (p.Thr2540=) c.7616C= (p.Thr2539=) c.1071C= n.7702C= | |
19 | g.38502511C>G | CA405671313 | RYR1 | c.7619C>G (p.Thr2540Ser) c.7616C>G (p.Thr2539Ser) c.1071C>G n.7702C>G | |
19 | g.38502511C>T | CA082512 | RYR1 | c.7619C>T (p.Thr2540Ile) c.7616C>T (p.Thr2539Ile) c.1071C>T n.7702C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502511_38502512del | CA995717041 | RYR1 | c.7619_7620del (p.Thr2540IlefsTer?) c.7616_7617del (p.Thr2539IlefsTer?) c.1071_1072del n.7702_7703del | gnomAD v3 gnomAD v4 |
19 | g.38502512T>A | CA507243691 | RYR1 | c.7620T>A (p.Thr2540=) c.7617T>A (p.Thr2539=) c.1072T>A n.7703T>A | |
19 | g.38502512T>C | CA507243692 | RYR1 | c.7620T>C (p.Thr2540=) c.7617T>C (p.Thr2539=) c.1072T>C n.7703T>C | |
19 | g.38502512T>G | CA507243693 | RYR1 | c.7620T>G (p.Thr2540=) c.7617T>G (p.Thr2539=) c.1072T>G n.7703T>G | |
19 | g.38502514del | CA2584900594 | RYR1 | c.7622del (p.Phe2541SerfsTer10) c.7619del (p.Phe2540SerfsTer10) c.1074del n.7705del | gnomAD v4 |
19 | g.38502513T>A | CA405671316 | RYR1 | c.7621T>A (p.Phe2541Ile) c.7618T>A (p.Phe2540Ile) c.1073T>A n.7704T>A | |
19 | g.38502513T>C | CA405671317 | RYR1 | c.7621T>C (p.Phe2541Leu) c.7618T>C (p.Phe2540Leu) c.1073T>C n.7704T>C | |
19 | g.38502513T>G | CA405671318 | RYR1 | c.7621T>G (p.Phe2541Val) c.7618T>G (p.Phe2540Val) c.1073T>G n.7704T>G | |
19 | g.38502514T>A | CA405671321 | RYR1 | c.7622T>A (p.Phe2541Tyr) c.7619T>A (p.Phe2540Tyr) c.1074T>A n.7705T>A | |
19 | g.38502514T>C | CA405671319 | RYR1 | c.7622T>C (p.Phe2541Ser) c.7619T>C (p.Phe2540Ser) c.1074T>C n.7705T>C | |
19 | g.38502514T>G | CA405671320 | RYR1 | c.7622T>G (p.Phe2541Cys) c.7619T>G (p.Phe2540Cys) c.1074T>G n.7705T>G | gnomAD v4 |
19 | g.38502514T= | CA2335054364 | RYR1 | c.7622T= (p.Phe2541=) c.7619T= (p.Phe2540=) c.1074T= n.7705T= | |
19 | g.38502514_38502515insTTTAATGATACGT | CA2528226534 | RYR1 | c.7622_7623insTTTAATGATACGT (p.Ser2542LeufsTer?) c.7619_7620insTTTAATGATACGT (p.Ser2541LeufsTer?) c.1074_1075insTTTAATGATACGT n.7705_7706insTTTAATGATACGT | |
19 | g.38502514_38502515insTTTAATGATA | CA633066608 | RYR1 | c.7622_7623insTTTAATGATA (p.Ser2542LeufsTer?) c.7619_7620insTTTAATGATA (p.Ser2541LeufsTer?) c.1074_1075insTTTAATGATA n.7705_7706insTTTAATGATA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502514_38502515insTTTAATGCTA | CA995717051 | RYR1 | c.7622_7623insTTTAATGCTA (p.Ser2542LeufsTer?) c.7619_7620insTTTAATGCTA (p.Ser2541LeufsTer?) c.1074_1075insTTTAATGCTA n.7705_7706insTTTAATGCTA | gnomAD v3 gnomAD v4 |
19 | g.38502514_38502515insTTTACTGATA | CA995717054 | RYR1 | c.7622_7623insTTTACTGATA (p.Ser2542LeufsTer?) c.7619_7620insTTTACTGATA (p.Ser2541LeufsTer?) c.1074_1075insTTTACTGATA n.7705_7706insTTTACTGATA | gnomAD v3 gnomAD v4 |
19 | g.38502514_38502515insTTTGATGATA | CA995717055 | RYR1 | c.7622_7623insTTTGATGATA (p.Ser2542LeufsTer?) c.7619_7620insTTTGATGATA (p.Ser2541LeufsTer?) c.1074_1075insTTTGATGATA n.7705_7706insTTTGATGATA | gnomAD v3 gnomAD v4 |
19 | g.38502515C>A | CA405671322 | RYR1 | c.7623C>A (p.Phe2541Leu) c.7620C>A (p.Phe2540Leu) c.1075C>A n.7706C>A | |
19 | g.38502515C>G | CA405671323 | RYR1 | c.7623C>G (p.Phe2541Leu) c.7620C>G (p.Phe2540Leu) c.1075C>G n.7706C>G | gnomAD v4 |
19 | g.38502515C>T | CA507243695 | RYR1 | c.7623C>T (p.Phe2541=) c.7620C>T (p.Phe2540=) c.1075C>T n.7706C>T | ClinVar |
19 | g.38502516del | CA2565678219 | RYR1 | c.7624del (p.Ser2542AlafsTer9) c.7621del (p.Ser2541AlafsTer9) c.1076del n.7707del | |
19 | g.38502516A= | CA2335054365 | RYR1 | c.7624A= (p.Ser2542=) c.7621A= (p.Ser2541=) c.1076A= n.7707A= | |
19 | g.38502516A>C | CA405671324 | RYR1 | c.7624A>C (p.Ser2542Arg) c.7621A>C (p.Ser2541Arg) c.1076A>C n.7707A>C | |
19 | g.38502516A>G | CA405671325 | RYR1 | c.7624A>G (p.Ser2542Gly) c.7621A>G (p.Ser2541Gly) c.1076A>G n.7707A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502516A>T | CA405671326 | RYR1 | c.7624A>T (p.Ser2542Cys) c.7621A>T (p.Ser2541Cys) c.1076A>T n.7707A>T | |
19 | g.38502517G>A | CA405671327 | RYR1 | c.7625G>A (p.Ser2542Asn) c.7622G>A (p.Ser2541Asn) c.1077G>A n.7708G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502517G>C | CA405671329 | RYR1 | c.7625G>C (p.Ser2542Thr) c.7622G>C (p.Ser2541Thr) c.1077G>C n.7708G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502517G= | CA2335054366 | RYR1 | c.7625G= (p.Ser2542=) c.7622G= (p.Ser2541=) c.1077G= n.7708G= | |
19 | g.38502517G>T | CA405671328 | RYR1 | c.7625G>T (p.Ser2542Ile) c.7622G>T (p.Ser2541Ile) c.1077G>T n.7708G>T | gnomAD v4 |
19 | g.38502518del | CA2503579571 | RYR1 | c.7626del (p.Ser2542ArgfsTer9) c.7623del (p.Ser2541ArgfsTer9) c.1078del n.7709del | |
19 | g.38502518C>A | CA405671330 | RYR1 | c.7626C>A (p.Ser2542Arg) c.7623C>A (p.Ser2541Arg) c.1078C>A n.7709C>A | |
19 | g.38502518C= | CA2335054367 | RYR1 | c.7626C= (p.Ser2542=) c.7623C= (p.Ser2541=) c.1078C= n.7709C= | |
19 | g.38502518C>G | CA405671332 | RYR1 | c.7626C>G (p.Ser2542Arg) c.7623C>G (p.Ser2541Arg) c.1078C>G n.7709C>G | dbSNP |
19 | g.38502518C>T | CA069880 | RYR1 | c.7626C>T (p.Ser2542=) c.7623C>T (p.Ser2541=) c.1078C>T n.7709C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502518_38502519insG | CA633066609 | RYR1 | c.7626_7627insG (p.Thr2543AspfsTer?) c.7623_7624insG (p.Thr2542AspfsTer?) c.1078_1079insG n.7709_7710insG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502519A>C | CA405671335 | RYR1 | c.7627A>C (p.Thr2543Pro) c.7624A>C (p.Thr2542Pro) c.1079A>C n.7710A>C | |
19 | g.38502519A>G | CA405671338 | RYR1 | c.7627A>G (p.Thr2543Ala) c.7624A>G (p.Thr2542Ala) c.1079A>G n.7710A>G | |
19 | g.38502519A>T | CA405671344 | RYR1 | c.7627A>T (p.Thr2543Ser) c.7624A>T (p.Thr2542Ser) c.1079A>T n.7710A>T | |
19 | g.38502520C>A | CA405671356 | RYR1 | c.7628C>A (p.Thr2543Asn) c.7625C>A (p.Thr2542Asn) c.1080C>A n.7711C>A | gnomAD v4 |
19 | g.38502520C= | CA2335054368 | RYR1 | c.7628C= (p.Thr2543=) c.7625C= (p.Thr2542=) c.1080C= n.7711C= | |
19 | g.38502520C>G | CA405671360 | RYR1 | c.7628C>G (p.Thr2543Ser) c.7625C>G (p.Thr2542Ser) c.1080C>G n.7711C>G | |
19 | g.38502520C>T | CA405671362 | RYR1 | c.7628C>T (p.Thr2543Ile) c.7625C>T (p.Thr2542Ile) c.1080C>T n.7711C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502521C>A | CA507243697 | RYR1 | c.7629C>A (p.Thr2543=) c.7626C>A (p.Thr2542=) c.1081C>A n.7712C>A | gnomAD v4 |
19 | g.38502521C>G | CA507243698 | RYR1 | c.7629C>G (p.Thr2543=) c.7626C>G (p.Thr2542=) c.1081C>G n.7712C>G | |
19 | g.38502521C>T | CA082514 | RYR1 | c.7629C>T (p.Thr2543=) c.7626C>T (p.Thr2542=) c.1081C>T n.7712C>T | |
19 | g.38502522A= | CA2335054369 | RYR1 | c.7630A= (p.Thr2544=) c.7627A= (p.Thr2543=) c.1082A= n.7713A= | |
19 | g.38502522A>C | CA405671372 | RYR1 | c.7630A>C (p.Thr2544Pro) c.7627A>C (p.Thr2543Pro) c.1082A>C n.7713A>C | |
19 | g.38502522A>G | CA069884 | RYR1 | c.7630A>G (p.Thr2544Ala) c.7627A>G (p.Thr2543Ala) c.1082A>G n.7713A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502522A>T | CA405671378 | RYR1 | c.7630A>T (p.Thr2544Ser) c.7627A>T (p.Thr2543Ser) c.1082A>T n.7713A>T | |
19 | g.38502523C>A | CA405671382 | RYR1 | c.7631C>A (p.Thr2544Asn) c.7628C>A (p.Thr2543Asn) c.1083C>A n.7714C>A | |
19 | g.38502523C= | CA2335054370 | RYR1 | c.7631C= (p.Thr2544=) c.7628C= (p.Thr2543=) c.1083C= n.7714C= | |
19 | g.38502523C>G | CA069888 | RYR1 | c.7631C>G (p.Thr2544Ser) c.7628C>G (p.Thr2543Ser) c.1083C>G n.7714C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502523C>T | CA405671380 | RYR1 | c.7631C>T (p.Thr2544Ile) c.7628C>T (p.Thr2543Ile) c.1083C>T n.7714C>T | |
19 | g.38502524C>A | CA507243699 | RYR1 | c.7632C>A (p.Thr2544=) c.7629C>A (p.Thr2543=) c.1084C>A n.7715C>A | gnomAD v4 |
19 | g.38502524C= | CA2335054371 | RYR1 | c.7632C= (p.Thr2544=) c.7629C= (p.Thr2543=) c.1084C= n.7715C= | |
19 | g.38502524C>G | CA507243700 | RYR1 | c.7632C>G (p.Thr2544=) c.7629C>G (p.Thr2543=) c.1084C>G n.7715C>G | gnomAD v4 |
19 | g.38502524C>T | CA507243701 | RYR1 | c.7632C>T (p.Thr2544=) c.7629C>T (p.Thr2543=) c.1084C>T n.7715C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502525G>A | CA082493 | RYR1 | c.7633G>A (p.Glu2545Lys) c.7630G>A (p.Glu2544Lys) c.1085G>A n.7716G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502525G>C | CA069896 | RYR1 | c.7633G>C (p.Glu2545Gln) c.7630G>C (p.Glu2544Gln) c.1085G>C n.7716G>C | dbSNP ExAC |
19 | g.38502525G= | CA2335054372 | RYR1 | c.7633G= (p.Glu2545=) c.7630G= (p.Glu2544=) c.1085G= n.7716G= | |
19 | g.38502525G>T | CA405671387 | RYR1 | c.7633G>T (p.Glu2545Ter) c.7630G>T (p.Glu2544Ter) c.1085G>T n.7716G>T | gnomAD v4 |
19 | g.38502526A>C | CA405671391 | RYR1 | c.7634A>C (p.Glu2545Ala) c.7631A>C (p.Glu2544Ala) c.1086A>C n.7717A>C | |
19 | g.38502526A>G | CA405671393 | RYR1 | c.7634A>G (p.Glu2545Gly) c.7631A>G (p.Glu2544Gly) c.1086A>G n.7717A>G | gnomAD v4 |
19 | g.38502526A>T | CA405671397 | RYR1 | c.7634A>T (p.Glu2545Val) c.7631A>T (p.Glu2544Val) c.1086A>T n.7717A>T | |
19 | g.38502527G>A | CA308111842 | RYR1 | c.7635G>A (p.Glu2545=) c.7632G>A (p.Glu2544=) c.1087G>A n.7718G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502527G>C | CA024839 | RYR1 | c.7635G>C (p.Glu2545Asp) c.7632G>C (p.Glu2544Asp) c.1087G>C n.7718G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502527G= | CA2335053788 | RYR1 | c.7635G= (p.Glu2545=) c.7632G= (p.Glu2544=) c.1087G= n.7718G= | |
19 | g.38502527G>T | CA405671402 | RYR1 | c.7635G>T (p.Glu2545Asp) c.7632G>T (p.Glu2544Asp) c.1087G>T n.7718G>T | gnomAD v4 |
19 | g.38502528A= | CA2335053791 | RYR1 | c.7636A= (p.Met2546=) c.7633A= (p.Met2545=) c.1088A= n.7719A= | |
19 | g.38502528A>C | CA405671408 | RYR1 | c.7636A>C (p.Met2546Leu) c.7633A>C (p.Met2545Leu) c.1088A>C n.7719A>C | |
19 | g.38502528A>G | CA405671411 | RYR1 | c.7636A>G (p.Met2546Val) c.7633A>G (p.Met2545Val) c.1088A>G n.7719A>G | ClinVar |
19 | g.38502528A>T | CA405671412 | RYR1 | c.7636A>T (p.Met2546Leu) c.7633A>T (p.Met2545Leu) c.1088A>T n.7719A>T | |
19 | g.38502529T>A | CA405671417 | RYR1 | c.7637T>A (p.Met2546Lys) c.7634T>A (p.Met2545Lys) c.1089T>A n.7720T>A | |
19 | g.38502529T>C | CA405671419 | RYR1 | c.7637T>C (p.Met2546Thr) c.7634T>C (p.Met2545Thr) c.1089T>C n.7720T>C | ClinVar gnomAD v4 |
19 | g.38502529T>G | CA405671421 | RYR1 | c.7637T>G (p.Met2546Arg) c.7634T>G (p.Met2545Arg) c.1089T>G n.7720T>G | |
19 | g.38502537_38502542dup | CA069900 | RYR1 | c.7645_7650dup (p.Leu2550_Asn2551insAlaLeu) c.7642_7647dup (p.Leu2549_Asn2550insAlaLeu) c.1097_1102dup n.7728_7733dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502530G>A | CA405671425 | RYR1 | c.7638G>A (p.Met2546Ile) c.7635G>A (p.Met2545Ile) c.1090G>A n.7721G>A | gnomAD v4 COSMIC |
19 | g.38502530G>C | CA082519 | RYR1 | c.7638G>C (p.Met2546Ile) c.7635G>C (p.Met2545Ile) c.1090G>C n.7721G>C | |
19 | g.38502530G>T | CA405671422 | RYR1 | c.7638G>T (p.Met2546Ile) c.7635G>T (p.Met2545Ile) c.1090G>T n.7721G>T | gnomAD v4 |
19 | g.38502531G>A | CA405671427 | RYR1 | c.7639G>A (p.Ala2547Thr) c.7636G>A (p.Ala2546Thr) c.1091G>A n.7722G>A | dbSNP gnomAD v4 |
19 | g.38502531G>C | CA405671430 | RYR1 | c.7639G>C (p.Ala2547Pro) c.7636G>C (p.Ala2546Pro) c.1091G>C n.7722G>C | |
19 | g.38502531G= | CA2335053801 | RYR1 | c.7639G= (p.Ala2547=) c.7636G= (p.Ala2546=) c.1091G= n.7722G= | |
19 | g.38502531G>T | CA308111849 | RYR1 | c.7639G>T (p.Ala2547Ser) c.7636G>T (p.Ala2546Ser) c.1091G>T n.7722G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502531_38502532insTGGCGC | CA082520 | RYR1 | c.7639_7640insTGGCGC (p.Ala2547delinsValAlaPro) c.7636_7637insTGGCGC (p.Ala2546delinsValAlaPro) c.1091_1092insTGGCGC n.7722_7723insTGGCGC | |
19 | g.38502532C>A | CA405671432 | RYR1 | c.7640C>A (p.Ala2547Glu) c.7637C>A (p.Ala2546Glu) c.1092C>A n.7723C>A | |
19 | g.38502532C= | CA2335053804 | RYR1 | c.7640C= (p.Ala2547=) c.7637C= (p.Ala2546=) c.1092C= n.7723C= | |
19 | g.38502532C>G | CA405671434 | RYR1 | c.7640C>G (p.Ala2547Gly) c.7637C>G (p.Ala2546Gly) c.1092C>G n.7723C>G | |
19 | g.38502532C>T | CA069906 | RYR1 | c.7640C>T (p.Ala2547Val) c.7637C>T (p.Ala2546Val) c.1092C>T n.7723C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502533G>A | CA507243703 | RYR1 | c.7641G>A (p.Ala2547=) c.7638G>A (p.Ala2546=) c.1093G>A n.7724G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502533G>C | CA507243704 | RYR1 | c.7641G>C (p.Ala2547=) c.7638G>C (p.Ala2546=) c.1093G>C n.7724G>C | ClinVar dbSNP gnomAD v4 |
19 | g.38502533G= | CA2335053809 | RYR1 | c.7641G= (p.Ala2547=) c.7638G= (p.Ala2546=) c.1093G= n.7724G= | |
19 | g.38502533G>T | CA507243705 | RYR1 | c.7641G>T (p.Ala2547=) c.7638G>T (p.Ala2546=) c.1093G>T n.7724G>T | gnomAD v4 |
19 | g.38502534C>A | CA405671437 | RYR1 | c.7642C>A (p.Leu2548Met) c.7639C>A (p.Leu2547Met) c.1094C>A n.7725C>A | gnomAD v4 |
19 | g.38502534C= | CA2335053811 | RYR1 | c.7642C= (p.Leu2548=) c.7639C= (p.Leu2547=) c.1094C= n.7725C= | |
19 | g.38502534C>G | CA405671438 | RYR1 | c.7642C>G (p.Leu2548Val) c.7639C>G (p.Leu2547Val) c.1094C>G n.7725C>G | |
19 | g.38502534C>T | CA507243706 | RYR1 | c.7642C>T (p.Leu2548=) c.7639C>T (p.Leu2547=) c.1094C>T n.7725C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502535T>A | CA405671441 | RYR1 | c.7643T>A (p.Leu2548Gln) c.7640T>A (p.Leu2547Gln) c.1095T>A n.7726T>A | |
19 | g.38502535T>C | CA405671442 | RYR1 | c.7643T>C (p.Leu2548Pro) c.7640T>C (p.Leu2547Pro) c.1095T>C n.7726T>C | |
19 | g.38502535T>G | CA405671446 | RYR1 | c.7643T>G (p.Leu2548Arg) c.7640T>G (p.Leu2547Arg) c.1095T>G n.7726T>G | |
19 | g.38502536G>A | CA507243707 | RYR1 | c.7644G>A (p.Leu2548=) c.7641G>A (p.Leu2547=) c.1096G>A n.7727G>A | |
19 | g.38502536G>C | CA507243708 | RYR1 | c.7644G>C (p.Leu2548=) c.7641G>C (p.Leu2547=) c.1096G>C n.7727G>C | |
19 | g.38502536G>T | CA507243709 | RYR1 | c.7644G>T (p.Leu2548=) c.7641G>T (p.Leu2547=) c.1096G>T n.7727G>T | gnomAD v4 |
19 | g.38502537G>A | CA405671450 | RYR1 | c.7645G>A (p.Ala2549Thr) c.7642G>A (p.Ala2548Thr) c.1097G>A n.7728G>A | COSMIC |
19 | g.38502537G>C | CA405671453 | RYR1 | c.7645G>C (p.Ala2549Pro) c.7642G>C (p.Ala2548Pro) c.1097G>C n.7728G>C | gnomAD v4 |
19 | g.38502537G>T | CA405671447 | RYR1 | c.7645G>T (p.Ala2549Ser) c.7642G>T (p.Ala2548Ser) c.1097G>T n.7728G>T | gnomAD v4 |
19 | g.38502538C>A | CA405671454 | RYR1 | c.7646C>A (p.Ala2549Glu) c.7643C>A (p.Ala2548Glu) c.1098C>A n.7729C>A | gnomAD v4 |
19 | g.38502538C= | CA2335053814 | RYR1 | c.7646C= (p.Ala2549=) c.7643C= (p.Ala2548=) c.1098C= n.7729C= | |
19 | g.38502538C>G | CA405671457 | RYR1 | c.7646C>G (p.Ala2549Gly) c.7643C>G (p.Ala2548Gly) c.1098C>G n.7729C>G | dbSNP |
19 | g.38502538C>T | CA069910 | RYR1 | c.7646C>T (p.Ala2549Val) c.7643C>T (p.Ala2548Val) c.1098C>T n.7729C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502539G>A | CA069912 | RYR1 | c.7647G>A (p.Ala2549=) c.7644G>A (p.Ala2548=) c.1099G>A n.7730G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502539G>C | CA507243710 | RYR1 | c.7647G>C (p.Ala2549=) c.7644G>C (p.Ala2548=) c.1099G>C n.7730G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502539G= | CA2335053818 | RYR1 | c.7647G= (p.Ala2549=) c.7644G= (p.Ala2548=) c.1099G= n.7730G= | |
19 | g.38502539G>T | CA069916 | RYR1 | c.7647G>T (p.Ala2549=) c.7644G>T (p.Ala2548=) c.1099G>T n.7730G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502540C>A | CA405671458 | RYR1 | c.7648C>A (p.Leu2550Met) c.7645C>A (p.Leu2549Met) c.1100C>A n.7731C>A | |
19 | g.38502540C= | CA2335053820 | RYR1 | c.7648C= (p.Leu2550=) c.7645C= (p.Leu2549=) c.1100C= n.7731C= | |
19 | g.38502540C>G | CA024842 | RYR1 | c.7648C>G (p.Leu2550Val) c.7645C>G (p.Leu2549Val) c.1100C>G n.7731C>G | ClinVar dbSNP |
19 | g.38502540C>T | CA507243711 | RYR1 | c.7648C>T (p.Leu2550=) c.7645C>T (p.Leu2549=) c.1100C>T n.7731C>T | gnomAD v4 |
19 | g.38502541T>A | CA405671461 | RYR1 | c.7649T>A (p.Leu2550Gln) c.7646T>A (p.Leu2549Gln) c.1101T>A n.7732T>A | |
19 | g.38502541T>C | CA405671462 | RYR1 | c.7649T>C (p.Leu2550Pro) c.7646T>C (p.Leu2549Pro) c.1101T>C n.7732T>C | gnomAD v4 |
19 | g.38502541T>G | CA405671465 | RYR1 | c.7649T>G (p.Leu2550Arg) c.7646T>G (p.Leu2549Arg) c.1101T>G n.7732T>G | |
19 | g.38502541_38502542delinsTG | CA2335053823 | RYR1 | c.7649_7650delinsTG (p.Leu2550=) c.7646_7647delinsTG (p.Leu2549=) c.1101_1102delinsTG n.7732_7733delinsTG | |
19 | g.38502542del | CA069919 | RYR1 | c.7650del (p.Asn2551ThrfsTer?) c.7647del (p.Asn2550ThrfsTer?) c.1102del n.7733del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502542G>A | CA069923 | RYR1 | c.7650G>A (p.Leu2550=) c.7647G>A (p.Leu2549=) c.1102G>A n.7733G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502542G>C | CA507243712 | RYR1 | c.7650G>C (p.Leu2550=) c.7647G>C (p.Leu2549=) c.1102G>C n.7733G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502542G= | CA2335053829 | RYR1 | c.7650G= (p.Leu2550=) c.7647G= (p.Leu2549=) c.1102G= n.7733G= | |
19 | g.38502542G>T | CA082522 | RYR1 | c.7650G>T (p.Leu2550=) c.7647G>T (p.Leu2549=) c.1102G>T n.7733G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502543A>C | CA405671473 | RYR1 | c.7651A>C (p.Asn2551His) c.7648A>C (p.Asn2550His) c.1103A>C n.7734A>C | gnomAD v4 |
19 | g.38502543A>G | CA405671475 | RYR1 | c.7651A>G (p.Asn2551Asp) c.7648A>G (p.Asn2550Asp) c.1103A>G n.7734A>G | |
19 | g.38502543A>T | CA405671471 | RYR1 | c.7651A>T (p.Asn2551Tyr) c.7648A>T (p.Asn2550Tyr) c.1103A>T n.7734A>T | |
19 | g.38502543_38502549delinsAACCGCT | CA2335053833 | RYR1 | c.7651_7657delinsAACCGCT (p.Asn2551=) c.7648_7654delinsAACCGCT (p.Asn2550=) c.1103_1109delinsAACCGCT n.7734_7740delinsAACCGCT | |
19 | g.38502544A>C | CA405671479 | RYR1 | c.7652A>C (p.Asn2551Thr) c.7649A>C (p.Asn2550Thr) c.1104A>C n.7735A>C | |
19 | g.38502544A>G | CA405671481 | RYR1 | c.7652A>G (p.Asn2551Ser) c.7649A>G (p.Asn2550Ser) c.1104A>G n.7735A>G | |
19 | g.38502544A>T | CA405671482 | RYR1 | c.7652A>T (p.Asn2551Ile) c.7649A>T (p.Asn2550Ile) c.1104A>T n.7735A>T | |
19 | g.38502547_38502552del | CA891863026 | RYR1 | c.7655_7660del (p.Arg2552_Tyr2553del) c.7652_7657del (p.Arg2551_Tyr2552del) c.1107_1112del n.7738_7743del | ClinVar dbSNP |
19 | g.38502545C>A | CA405671485 | RYR1 | c.7653C>A (p.Asn2551Lys) c.7650C>A (p.Asn2550Lys) c.1105C>A n.7736C>A | |
19 | g.38502545C= | CA2335053844 | RYR1 | c.7653C= (p.Asn2551=) c.7650C= (p.Asn2550=) c.1105C= n.7736C= | |
19 | g.38502545C>G | CA405671488 | RYR1 | c.7653C>G (p.Asn2551Lys) c.7650C>G (p.Asn2550Lys) c.1105C>G n.7736C>G | |
19 | g.38502545C>T | CA069925 | RYR1 | c.7653C>T (p.Asn2551=) c.7650C>T (p.Asn2550=) c.1105C>T n.7736C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502546C>A | CA405671496 | RYR1 | c.7654C>A (p.Arg2552Ser) c.7651C>A (p.Arg2551Ser) c.1106C>A n.7737C>A | gnomAD v4 |
19 | g.38502546C= | CA2335053851 | RYR1 | c.7654C= (p.Arg2552=) c.7651C= (p.Arg2551=) c.1106C= n.7737C= | |
19 | g.38502546C>G | CA405671494 | RYR1 | c.7654C>G (p.Arg2552Gly) c.7651C>G (p.Arg2551Gly) c.1106C>G n.7737C>G | |
19 | g.38502546C>T | CA069928 | RYR1 | c.7654C>T (p.Arg2552Cys) c.7651C>T (p.Arg2551Cys) c.1106C>T n.7737C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502546_38502549dup | CA2335053850 | RYR1 | c.7654_7657dup (p.Tyr2553SerfsTer?) c.7651_7654dup (p.Tyr2552SerfsTer?) c.1106_1109dup n.7737_7740dup | dbSNP |
19 | g.38502547G>A | CA405671498 | RYR1 | c.7655G>A (p.Arg2552His) c.7652G>A (p.Arg2551His) c.1107G>A n.7738G>A | ClinVar gnomAD v4 |
19 | g.38502547G>C | CA405671500 | RYR1 | c.7655G>C (p.Arg2552Pro) c.7652G>C (p.Arg2551Pro) c.1107G>C n.7738G>C | |
19 | g.38502547G>T | CA405671501 | RYR1 | c.7655G>T (p.Arg2552Leu) c.7652G>T (p.Arg2551Leu) c.1107G>T n.7738G>T | gnomAD v4 |
19 | g.38502548C>A | CA507243713 | RYR1 | c.7656C>A (p.Arg2552=) c.7653C>A (p.Arg2551=) c.1108C>A n.7739C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502548C= | CA2335053853 | RYR1 | c.7656C= (p.Arg2552=) c.7653C= (p.Arg2551=) c.1108C= n.7739C= | |
19 | g.38502548C>G | CA507243714 | RYR1 | c.7656C>G (p.Arg2552=) c.7653C>G (p.Arg2551=) c.1108C>G n.7739C>G | |
19 | g.38502548C>T | CA082525 | RYR1 | c.7656C>T (p.Arg2552=) c.7653C>T (p.Arg2551=) c.1108C>T n.7739C>T | gnomAD v4 |
19 | g.38502549T>A | CA405671503 | RYR1 | c.7657T>A (p.Tyr2553Asn) c.7654T>A (p.Tyr2552Asn) c.1109T>A n.7740T>A | |
19 | g.38502549T>C | CA405671505 | RYR1 | c.7657T>C (p.Tyr2553His) c.7654T>C (p.Tyr2552His) c.1109T>C n.7740T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502549T>G | CA405671508 | RYR1 | c.7657T>G (p.Tyr2553Asp) c.7654T>G (p.Tyr2552Asp) c.1109T>G n.7740T>G | |
19 | g.38502549T= | CA2335053854 | RYR1 | c.7657T= (p.Tyr2553=) c.7654T= (p.Tyr2552=) c.1109T= n.7740T= | |
19 | g.38502550A>C | CA405671516 | RYR1 | c.7658A>C (p.Tyr2553Ser) c.7655A>C (p.Tyr2552Ser) c.1110A>C n.7741A>C | COSMIC |
19 | g.38502550A>G | CA405671513 | RYR1 | c.7658A>G (p.Tyr2553Cys) c.7655A>G (p.Tyr2552Cys) c.1110A>G n.7741A>G | |
19 | g.38502550A>T | CA405671511 | RYR1 | c.7658A>T (p.Tyr2553Phe) c.7655A>T (p.Tyr2552Phe) c.1110A>T n.7741A>T | |
19 | g.38502551C>A | CA082498 | RYR1 | c.7659C>A (p.Tyr2553Ter) c.7656C>A (p.Tyr2552Ter) c.1111C>A n.7742C>A | |
19 | g.38502551C= | CA2335053857 | RYR1 | c.7659C= (p.Tyr2553=) c.7656C= (p.Tyr2552=) c.1111C= n.7742C= | |
19 | g.38502551C>G | CA405671518 | RYR1 | c.7659C>G (p.Tyr2553Ter) c.7656C>G (p.Tyr2552Ter) c.1111C>G n.7742C>G | |
19 | g.38502551C>T | CA069929 | RYR1 | c.7659C>T (p.Tyr2553=) c.7656C>T (p.Tyr2552=) c.1111C>T n.7742C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502552C>A | CA405671521 | RYR1 | c.7660C>A (p.Leu2554Met) c.7657C>A (p.Leu2553Met) c.1112C>A n.7743C>A | gnomAD v4 |
19 | g.38502552C= | CA2335053861 | RYR1 | c.7660C= (p.Leu2554=) c.7657C= (p.Leu2553=) c.1112C= n.7743C= | |
19 | g.38502552C>G | CA405671524 | RYR1 | c.7660C>G (p.Leu2554Val) c.7657C>G (p.Leu2553Val) c.1112C>G n.7743C>G | gnomAD v4 |
19 | g.38502552C>T | CA507243715 | RYR1 | c.7660C>T (p.Leu2554=) c.7657C>T (p.Leu2553=) c.1112C>T n.7743C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502553T>A | CA405671525 | RYR1 | c.7661T>A (p.Leu2554Gln) c.7658T>A (p.Leu2553Gln) c.1113T>A n.7744T>A | |
19 | g.38502553T>C | CA405671527 | RYR1 | c.7661T>C (p.Leu2554Pro) c.7658T>C (p.Leu2553Pro) c.1113T>C n.7744T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502553T>G | CA405671529 | RYR1 | c.7661T>G (p.Leu2554Arg) c.7658T>G (p.Leu2553Arg) c.1113T>G n.7744T>G | |
19 | g.38502553T= | CA2335053864 | RYR1 | c.7661T= (p.Leu2554=) c.7658T= (p.Leu2553=) c.1113T= n.7744T= | |
19 | g.38502554G>A | CA507243716 | RYR1 | c.7662G>A (p.Leu2554=) c.7659G>A (p.Leu2553=) c.1114G>A n.7745G>A | ClinVar dbSNP |
19 | g.38502554G>C | CA507243717 | RYR1 | c.7662G>C (p.Leu2554=) c.7659G>C (p.Leu2553=) c.1114G>C n.7745G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502554G= | CA2335053867 | RYR1 | c.7662G= (p.Leu2554=) c.7659G= (p.Leu2553=) c.1114G= n.7745G= | |
19 | g.38502554G>T | CA507243718 | RYR1 | c.7662G>T (p.Leu2554=) c.7659G>T (p.Leu2553=) c.1114G>T n.7745G>T | gnomAD v4 |
19 | g.38502555T>A | CA405671531 | RYR1 | c.7663T>A (p.Cys2555Ser) c.7660T>A (p.Cys2554Ser) c.1115T>A n.7746T>A | |
19 | g.38502555T>C | CA405671535 | RYR1 | c.7663T>C (p.Cys2555Arg) c.7660T>C (p.Cys2554Arg) c.1115T>C n.7746T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502555T>G | CA405671533 | RYR1 | c.7663T>G (p.Cys2555Gly) c.7660T>G (p.Cys2554Gly) c.1115T>G n.7746T>G | ClinVar dbSNP |
19 | g.38502555T= | CA2335053873 | RYR1 | c.7663T= (p.Cys2555=) c.7660T= (p.Cys2554=) c.1115T= n.7746T= | |
19 | g.38502556G>A | CA405671537 | RYR1 | c.7664G>A (p.Cys2555Tyr) c.7661G>A (p.Cys2554Tyr) c.1116G>A n.7747G>A | |
19 | g.38502556G>C | CA405671538 | RYR1 | c.7664G>C (p.Cys2555Ser) c.7661G>C (p.Cys2554Ser) c.1116G>C n.7747G>C | |
19 | g.38502556G= | CA2335053877 | RYR1 | c.7664G= (p.Cys2555=) c.7661G= (p.Cys2554=) c.1116G= n.7747G= | |
19 | g.38502556G>T | CA405671540 | RYR1 | c.7664G>T (p.Cys2555Phe) c.7661G>T (p.Cys2554Phe) c.1116G>T n.7747G>T | dbSNP gnomAD v4 |
19 | g.38502557C>A | CA405671542 | RYR1 | c.7665C>A (p.Cys2555Ter) c.7662C>A (p.Cys2554Ter) c.1117C>A n.7748C>A | |
19 | g.38502557C= | CA2335053880 | RYR1 | c.7665C= (p.Cys2555=) c.7662C= (p.Cys2554=) c.1117C= n.7748C= | |
19 | g.38502557C>G | CA405671545 | RYR1 | c.7665C>G (p.Cys2555Trp) c.7662C>G (p.Cys2554Trp) c.1117C>G n.7748C>G | gnomAD v4 |
19 | g.38502557C>T | CA507243719 | RYR1 | c.7665C>T (p.Cys2555=) c.7662C>T (p.Cys2554=) c.1117C>T n.7748C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502558C>A | CA405671546 | RYR1 | c.7666C>A (p.Leu2556Met) c.7663C>A (p.Leu2555Met) c.1118C>A n.7749C>A | |
19 | g.38502558C= | CA2335053882 | RYR1 | c.7666C= (p.Leu2556=) c.7663C= (p.Leu2555=) c.1118C= n.7749C= | |
19 | g.38502558C>G | CA405671547 | RYR1 | c.7666C>G (p.Leu2556Val) c.7663C>G (p.Leu2555Val) c.1118C>G n.7749C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502558C>T | CA069936 | RYR1 | c.7666C>T (p.Leu2556=) c.7663C>T (p.Leu2555=) c.1118C>T n.7749C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502559T>A | CA405671548 | RYR1 | c.7667T>A (p.Leu2556Gln) c.7664T>A (p.Leu2555Gln) c.1119T>A n.7750T>A | |
19 | g.38502559T>C | CA405671549 | RYR1 | c.7667T>C (p.Leu2556Pro) c.7664T>C (p.Leu2555Pro) c.1119T>C n.7750T>C | |
19 | g.38502559T>G | CA405671550 | RYR1 | c.7667T>G (p.Leu2556Arg) c.7664T>G (p.Leu2555Arg) c.1119T>G n.7750T>G | |
19 | g.38502560G>A | CA069940 | RYR1 | c.7668G>A (p.Leu2556=) c.7665G>A (p.Leu2555=) c.1120G>A n.7751G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502560G>C | CA507243721 | RYR1 | c.7668G>C (p.Leu2556=) c.7665G>C (p.Leu2555=) c.1120G>C n.7751G>C | |
19 | g.38502560G= | CA2335053885 | RYR1 | c.7668G= (p.Leu2556=) c.7665G= (p.Leu2555=) c.1120G= n.7751G= | |
19 | g.38502560G>T | CA507243720 | RYR1 | c.7668G>T (p.Leu2556=) c.7665G>T (p.Leu2555=) c.1120G>T n.7751G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38502561G>A | CA405671551 | RYR1 | c.7669G>A (p.Ala2557Thr) c.7666G>A (p.Ala2556Thr) c.1121G>A n.7752G>A | gnomAD v4 |
19 | g.38502561G>C | CA405671552 | RYR1 | c.7669G>C (p.Ala2557Pro) c.7666G>C (p.Ala2556Pro) c.1121G>C n.7752G>C | |
19 | g.38502561G>T | CA405671553 | RYR1 | c.7669G>T (p.Ala2557Ser) c.7666G>T (p.Ala2556Ser) c.1121G>T n.7752G>T | gnomAD v4 |
19 | g.38502562C>A | CA405671554 | RYR1 | c.7670C>A (p.Ala2557Asp) c.7667C>A (p.Ala2556Asp) c.1122C>A n.7753C>A | dbSNP gnomAD v4 |
19 | g.38502562C= | CA2335053887 | RYR1 | c.7670C= (p.Ala2557=) c.7667C= (p.Ala2556=) c.1122C= n.7753C= | |
19 | g.38502562C>G | CA405671555 | RYR1 | c.7670C>G (p.Ala2557Gly) c.7667C>G (p.Ala2556Gly) c.1122C>G n.7753C>G | |
19 | g.38502562C>T | CA405671556 | RYR1 | c.7670C>T (p.Ala2557Val) c.7667C>T (p.Ala2556Val) c.1122C>T n.7753C>T | ClinVar COSMIC |