Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38500562A>G | CA2584900513 | RYR1 | c.7324-44A>G (n.7324-44A>G) c.7321-44A>G (n.7321-44A>G) c.776-44A>G n.7407-44A>G | gnomAD v4 |
19 | g.38500567C>A | CA995716067 | RYR1 | c.7324-39C>A (n.7324-39C>A) c.7321-39C>A (n.7321-39C>A) c.776-39C>A n.7407-39C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500567C= | CA2335053309 | RYR1 | c.7324-39C= (n.7324-39C=) c.7321-39C= (n.7321-39C=) c.776-39C= n.7407-39C= | |
19 | g.38500567C>G | CA2584900514 | RYR1 | c.7324-39C>G (n.7324-39C>G) c.7321-39C>G (n.7321-39C>G) c.776-39C>G n.7407-39C>G | gnomAD v4 |
19 | g.38500567C>T | CA069536 | RYR1 | c.7324-39C>T (n.7324-39C>T) c.7321-39C>T (n.7321-39C>T) c.776-39C>T n.7407-39C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500568G>A | CA308110239 | RYR1 | c.7324-38G>A (n.7324-38G>A) c.7321-38G>A (n.7321-38G>A) c.776-38G>A n.7407-38G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500568G= | CA2335053310 | RYR1 | c.7324-38G= (n.7324-38G=) c.7321-38G= (n.7321-38G=) c.776-38G= n.7407-38G= | |
19 | g.38500570C= | CA2335053311 | RYR1 | c.7324-36C= (n.7324-36C=) c.7321-36C= (n.7321-36C=) c.776-36C= n.7407-36C= | |
19 | g.38500570C>T | CA082419 | RYR1 | c.7324-36C>T (n.7324-36C>T) c.7321-36C>T (n.7321-36C>T) c.776-36C>T n.7407-36C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500572G>A | CA2736030148 | RYR1 | c.7324-34G>A (n.7324-34G>A) c.7321-34G>A (n.7321-34G>A) c.776-34G>A n.7407-34G>A | dbSNP |
19 | g.38500572G>C | CA2576771115 | RYR1 | c.7324-34G>C (n.7324-34G>C) c.7321-34G>C (n.7321-34G>C) c.776-34G>C n.7407-34G>C | |
19 | g.38500575G>A | CA2814346284 | RYR1 | c.7324-31G>A (n.7324-31G>A) c.7321-31G>A (n.7321-31G>A) c.776-31G>A n.7407-31G>A | |
19 | g.38500575G>T | CA2736030188 | RYR1 | c.7324-31G>T (n.7324-31G>T) c.7321-31G>T (n.7321-31G>T) c.776-31G>T n.7407-31G>T | dbSNP |
19 | g.38500576A= | CA2335053312 | RYR1 | c.7324-30A= (n.7324-30A=) c.7321-30A= (n.7321-30A=) c.776-30A= n.7407-30A= | |
19 | g.38500576A>C | CA2335053313 | RYR1 | c.7324-30A>C (n.7324-30A>C) c.7321-30A>C (n.7321-30A>C) c.776-30A>C n.7407-30A>C | dbSNP |
19 | g.38500576A>G | CA069533 | RYR1 | c.7324-30A>G (n.7324-30A>G) c.7321-30A>G (n.7321-30A>G) c.776-30A>G n.7407-30A>G | dbSNP ExAC gnomAD v2 |
19 | g.38500577G>C | CA882052115 | RYR1 | c.7324-29G>C (n.7324-29G>C) c.7321-29G>C (n.7321-29G>C) c.776-29G>C n.7407-29G>C | dbSNP |
19 | g.38500577G= | CA2335053314 | RYR1 | c.7324-29G= (n.7324-29G=) c.7321-29G= (n.7321-29G=) c.776-29G= n.7407-29G= | |
19 | g.38500577G>T | CA2735895792 | RYR1 | c.7324-29G>T (n.7324-29G>T) c.7321-29G>T (n.7321-29G>T) c.776-29G>T n.7407-29G>T | dbSNP |
19 | g.38500578T>C | CA2584900515 | RYR1 | c.7324-28T>C (n.7324-28T>C) c.7321-28T>C (n.7321-28T>C) c.776-28T>C n.7407-28T>C | gnomAD v4 |
19 | g.38500578T>G | CA2736030297 | RYR1 | c.7324-28T>G (n.7324-28T>G) c.7321-28T>G (n.7321-28T>G) c.776-28T>G n.7407-28T>G | dbSNP |
19 | g.38500579G>A | CA069531 | RYR1 | c.7324-27G>A (n.7324-27G>A) c.7321-27G>A (n.7321-27G>A) c.776-27G>A n.7407-27G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500579G= | CA2335053315 | RYR1 | c.7324-27G= (n.7324-27G=) c.7321-27G= (n.7321-27G=) c.776-27G= n.7407-27G= | |
19 | g.38500580C= | CA2335053316 | RYR1 | c.7324-26C= (n.7324-26C=) c.7321-26C= (n.7321-26C=) c.776-26C= n.7407-26C= | |
19 | g.38500580C>T | CA2335053317 | RYR1 | c.7324-26C>T (n.7324-26C>T) c.7321-26C>T (n.7321-26C>T) c.776-26C>T n.7407-26C>T | dbSNP gnomAD v4 |
19 | g.38500582_38500583del | CA2584900516 | RYR1 | c.7324-24_7324-23del (n.7324-24_7324-23del) c.7321-24_7321-23del (n.7321-24_7321-23del) c.776-24_776-23del n.7407-24_7407-23del | gnomAD v4 |
19 | g.38500581C>A | CA632874713 | RYR1 | c.7324-25C>A (n.7324-25C>A) c.7321-25C>A (n.7321-25C>A) c.776-25C>A n.7407-25C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500581C= | CA2335053318 | RYR1 | c.7324-25C= (n.7324-25C=) c.7321-25C= (n.7321-25C=) c.776-25C= n.7407-25C= | |
19 | g.38500581C>T | CA308110248 | RYR1 | c.7324-25C>T (n.7324-25C>T) c.7321-25C>T (n.7321-25C>T) c.776-25C>T n.7407-25C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500583C>A | CA2735915895 | RYR1 | c.7324-23C>A (n.7324-23C>A) c.7321-23C>A (n.7321-23C>A) c.776-23C>A n.7407-23C>A | dbSNP |
19 | g.38500583C= | CA2335053321 | RYR1 | c.7324-23C= (n.7324-23C=) c.7321-23C= (n.7321-23C=) c.776-23C= n.7407-23C= | |
19 | g.38500583C>G | CA2335053320 | RYR1 | c.7324-23C>G (n.7324-23C>G) c.7321-23C>G (n.7321-23C>G) c.776-23C>G n.7407-23C>G | dbSNP |
19 | g.38500583C>T | CA2584900517 | RYR1 | c.7324-23C>T (n.7324-23C>T) c.7321-23C>T (n.7321-23C>T) c.776-23C>T n.7407-23C>T | gnomAD v4 |
19 | g.38500583_38500584delinsCT | CA2335053319 | RYR1 | c.7324-23_7324-22delinsCT (n.7324-23_7324-22delinsCT) c.7321-23_7321-22delinsCT (n.7321-23_7321-22delinsCT) c.776-23_776-22delinsCT n.7407-23_7407-22delinsCT | |
19 | g.38500584del | CA069527 | RYR1 | c.7324-22del (n.7324-22del) c.7321-22del (n.7321-22del) c.776-22del n.7407-22del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500585C= | CA2335053322 | RYR1 | c.7324-21C= (n.7324-21C=) c.7321-21C= (n.7321-21C=) c.776-21C= n.7407-21C= | |
19 | g.38500585C>T | CA069525 | RYR1 | c.7324-21C>T (n.7324-21C>T) c.7321-21C>T (n.7321-21C>T) c.776-21C>T n.7407-21C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500587C= | CA2335053323 | RYR1 | c.7324-19C= (n.7324-19C=) c.7321-19C= (n.7321-19C=) c.776-19C= n.7407-19C= | |
19 | g.38500587C>G | CA2739276777 | RYR1 | c.7324-19C>G (n.7324-19C>G) c.7321-19C>G (n.7321-19C>G) c.776-19C>G n.7407-19C>G | ClinVar |
19 | g.38500587C>T | CA024764 | RYR1 | c.7324-19C>T (n.7324-19C>T) c.7321-19C>T (n.7321-19C>T) c.776-19C>T n.7407-19C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500588C= | CA2335053324 | RYR1 | c.7324-18C= (n.7324-18C=) c.7321-18C= (n.7321-18C=) c.776-18C= n.7407-18C= | |
19 | g.38500588C>G | CA632874714 | RYR1 | c.7324-18C>G (n.7324-18C>G) c.7321-18C>G (n.7321-18C>G) c.776-18C>G n.7407-18C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500588C>T | CA082415 | RYR1 | c.7324-18C>T (n.7324-18C>T) c.7321-18C>T (n.7321-18C>T) c.776-18C>T n.7407-18C>T | |
19 | g.38500592C= | CA2335053325 | RYR1 | c.7324-14C= (n.7324-14C=) c.7321-14C= (n.7321-14C=) c.776-14C= n.7407-14C= | |
19 | g.38500592C>G | CA069521 | RYR1 | c.7324-14C>G (n.7324-14C>G) c.7321-14C>G (n.7321-14C>G) c.776-14C>G n.7407-14C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500592C>T | CA2584900518 | RYR1 | c.7324-14C>T (n.7324-14C>T) c.7321-14C>T (n.7321-14C>T) c.776-14C>T n.7407-14C>T | gnomAD v4 |
19 | g.38500592_38500596delinsCCTCT | CA2335053326 | RYR1 | c.7324-14_7324-10delinsCCTCT (n.7324-14_7324-10delinsCCTCT) c.7321-14_7321-10delinsCCTCT (n.7321-14_7321-10delinsCCTCT) c.776-14_776-10delinsCCTCT n.7407-14_7407-10delinsCCTCT | |
19 | g.38500593_38500594delinsCT | CA2335053328 | RYR1 | c.7324-13_7324-12delinsCT (n.7324-13_7324-12delinsCT) c.7321-13_7321-12delinsCT (n.7321-13_7321-12delinsCT) c.776-13_776-12delinsCT n.7407-13_7407-12delinsCT | |
19 | g.38500593_38500596del | CA2335053327 | RYR1 | c.7324-13_7324-10del (n.7324-13_7324-10del) c.7321-13_7321-10del (n.7321-13_7321-10del) c.776-13_776-10del n.7407-13_7407-10del | dbSNP |
19 | g.38500594del | CA069517 | RYR1 | c.7324-12del (n.7324-12del) c.7321-12del (n.7321-12del) c.776-12del n.7407-12del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500594T>C | CA2736030306 | RYR1 | c.7324-12T>C (n.7324-12T>C) c.7321-12T>C (n.7321-12T>C) c.776-12T>C n.7407-12T>C | dbSNP |
19 | g.38500595del | CA405669783 | RYR1 | c.7324-11del (n.7324-11del) c.7321-11del (n.7321-11del) c.776-11del n.7407-11del | |
19 | g.38500595C= | CA2335053329 | RYR1 | c.7324-11C= (n.7324-11C=) c.7321-11C= (n.7321-11C=) c.776-11C= n.7407-11C= | |
19 | g.38500595C>G | CA082414 | RYR1 | c.7324-11C>G (n.7324-11C>G) c.7321-11C>G (n.7321-11C>G) c.776-11C>G n.7407-11C>G | |
19 | g.38500596T>G | CA2584900519 | RYR1 | c.7324-10T>G (n.7324-10T>G) c.7321-10T>G (n.7321-10T>G) c.776-10T>G n.7407-10T>G | gnomAD v4 |
19 | g.38500596dup | CA069515 | RYR1 | c.7324-10dup (n.7324-10dup) c.7321-10dup (n.7321-10dup) c.776-10dup n.7407-10dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500597A= | CA2335053330 | RYR1 | c.7324-9A= (n.7324-9A=) c.7321-9A= (n.7321-9A=) c.776-9A= n.7407-9A= | |
19 | g.38500597A>C | CA2580097212 | RYR1 | c.7324-9A>C (n.7324-9A>C) c.7321-9A>C (n.7321-9A>C) c.776-9A>C n.7407-9A>C | ClinVar gnomAD v4 |
19 | g.38500597A>T | CA632874715 | RYR1 | c.7324-9A>T (n.7324-9A>T) c.7321-9A>T (n.7321-9A>T) c.776-9A>T n.7407-9A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500599dup | CA082412 | RYR1 | c.7324-7dup (n.7324-7dup) c.7321-7dup (n.7321-7dup) c.776-7dup n.7407-7dup | |
19 | g.38500600C= | CA2335053331 | RYR1 | c.7324-6C= (n.7324-6C=) c.7321-6C= (n.7321-6C=) c.776-6C= n.7407-6C= | |
19 | g.38500600C>T | CA632874716 | RYR1 | c.7324-6C>T (n.7324-6C>T) c.7321-6C>T (n.7321-6C>T) c.776-6C>T n.7407-6C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500601C= | CA2335053332 | RYR1 | c.7324-5C= (n.7324-5C=) c.7321-5C= (n.7321-5C=) c.776-5C= n.7407-5C= | |
19 | g.38500601C>T | CA069538 | RYR1 | c.7324-5C>T (n.7324-5C>T) c.7321-5C>T (n.7321-5C>T) c.776-5C>T n.7407-5C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500604A>C | CA405669788 | RYR1 | c.7324-2A>C (n.7324-2A>C) c.7321-2A>C (n.7321-2A>C) c.776-2A>C n.7407-2A>C | |
19 | g.38500604A>G | CA405669791 | RYR1 | c.7324-2A>G (n.7324-2A>G) c.7321-2A>G (n.7321-2A>G) c.776-2A>G n.7407-2A>G | |
19 | g.38500604A>T | CA405669794 | RYR1 | c.7324-2A>T (n.7324-2A>T) c.7321-2A>T (n.7321-2A>T) c.776-2A>T n.7407-2A>T | |
19 | g.38500605G>A | CA405669801 | RYR1 | c.7324-1G>A (n.7324-1G>A) c.7321-1G>A (n.7321-1G>A) c.776-1G>A n.7407-1G>A | ClinVar dbSNP |
19 | g.38500605G>C | CA405669803 | RYR1 | c.7324-1G>C (n.7324-1G>C) c.7321-1G>C (n.7321-1G>C) c.776-1G>C n.7407-1G>C | |
19 | g.38500605G= | CA2335053333 | RYR1 | c.7324-1G= (n.7324-1G=) c.7321-1G= (n.7321-1G=) c.776-1G= n.7407-1G= | |
19 | g.38500605G>T | CA024767 | RYR1 | c.7324-1G>T (n.7324-1G>T) c.7321-1G>T (n.7321-1G>T) c.776-1G>T n.7407-1G>T | ClinVar dbSNP |
19 | g.38500606C>A | CA405669805 | RYR1 | c.7324C>A (p.Leu2442Ile) c.7321C>A (p.Leu2441Ile) c.776C>A n.7407C>A | |
19 | g.38500606C>G | CA082401 | RYR1 | c.7324C>G (p.Leu2442Val) c.7321C>G (p.Leu2441Val) c.776C>G n.7407C>G | |
19 | g.38500606C>T | CA507243395 | RYR1 | c.7324C>T (p.Leu2442=) c.7321C>T (p.Leu2441=) c.776C>T n.7407C>T | |
19 | g.38500607T>A | CA405669806 | RYR1 | c.7325T>A (p.Leu2442Gln) c.7322T>A (p.Leu2441Gln) c.777T>A n.7408T>A | |
19 | g.38500607T>C | CA405669807 | RYR1 | c.7325T>C (p.Leu2442Pro) c.7322T>C (p.Leu2441Pro) c.777T>C n.7408T>C | |
19 | g.38500607T>G | CA405669809 | RYR1 | c.7325T>G (p.Leu2442Arg) c.7322T>G (p.Leu2441Arg) c.777T>G n.7408T>G | |
19 | g.38500608A>C | CA507243398 | RYR1 | c.7326A>C (p.Leu2442=) c.7323A>C (p.Leu2441=) c.778A>C n.7409A>C | |
19 | g.38500608A>G | CA507243397 | RYR1 | c.7326A>G (p.Leu2442=) c.7323A>G (p.Leu2441=) c.778A>G n.7409A>G | |
19 | g.38500608A>T | CA507243396 | RYR1 | c.7326A>T (p.Leu2442=) c.7323A>T (p.Leu2441=) c.778A>T n.7409A>T | |
19 | g.38500609A= | CA2335053334 | RYR1 | c.7327A= (p.Ile2443=) c.7324A= (p.Ile2442=) c.779A= n.7410A= | |
19 | g.38500609A>C | CA405669811 | RYR1 | c.7327A>C (p.Ile2443Leu) c.7324A>C (p.Ile2442Leu) c.779A>C n.7410A>C | gnomAD v4 |
19 | g.38500609A>G | CA405669813 | RYR1 | c.7327A>G (p.Ile2443Val) c.7324A>G (p.Ile2442Val) c.779A>G n.7410A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500609A>T | CA405669815 | RYR1 | c.7327A>T (p.Ile2443Phe) c.7324A>T (p.Ile2442Phe) c.779A>T n.7410A>T | |
19 | g.38500610T>A | CA405669817 | RYR1 | c.7328T>A (p.Ile2443Asn) c.7325T>A (p.Ile2442Asn) c.780T>A n.7411T>A | |
19 | g.38500610T>C | CA405669819 | RYR1 | c.7328T>C (p.Ile2443Thr) c.7325T>C (p.Ile2442Thr) c.780T>C n.7411T>C | ClinVar |
19 | g.38500610T>G | CA405669822 | RYR1 | c.7328T>G (p.Ile2443Ser) c.7325T>G (p.Ile2442Ser) c.780T>G n.7411T>G | |
19 | g.38500611C>A | CA507243403 | RYR1 | c.7329C>A (p.Ile2443=) c.7326C>A (p.Ile2442=) c.781C>A n.7412C>A | |
19 | g.38500611C>G | CA405669823 | RYR1 | c.7329C>G (p.Ile2443Met) c.7326C>G (p.Ile2442Met) c.781C>G n.7412C>G | |
19 | g.38500611C>T | CA507243402 | RYR1 | c.7329C>T (p.Ile2443=) c.7326C>T (p.Ile2442=) c.781C>T n.7412C>T | |
19 | g.38500612C>A | CA405669824 | RYR1 | c.7330C>A (p.Gln2444Lys) c.7327C>A (p.Gln2443Lys) c.782C>A n.7413C>A | |
19 | g.38500612C= | CA2335053335 | RYR1 | c.7330C= (p.Gln2444=) c.7327C= (p.Gln2443=) c.782C= n.7413C= | |
19 | g.38500612C>G | CA405669825 | RYR1 | c.7330C>G (p.Gln2444Glu) c.7327C>G (p.Gln2443Glu) c.782C>G n.7413C>G | |
19 | g.38500612C>T | CA405669827 | RYR1 | c.7330C>T (p.Gln2444Ter) c.7327C>T (p.Gln2443Ter) c.782C>T n.7413C>T | ClinVar dbSNP |
19 | g.38500613A>C | CA405669830 | RYR1 | c.7331A>C (p.Gln2444Pro) c.7328A>C (p.Gln2443Pro) c.783A>C n.7414A>C | |
19 | g.38500613A>G | CA405669832 | RYR1 | c.7331A>G (p.Gln2444Arg) c.7328A>G (p.Gln2443Arg) c.783A>G n.7414A>G | |
19 | g.38500613A>T | CA405669829 | RYR1 | c.7331A>T (p.Gln2444Leu) c.7328A>T (p.Gln2443Leu) c.783A>T n.7414A>T | |
19 | g.38500614A= | CA2335053336 | RYR1 | c.7332A= (p.Gln2444=) c.7329A= (p.Gln2443=) c.784A= n.7415A= | |
19 | g.38500614A>C | CA405669833 | RYR1 | c.7332A>C (p.Gln2444His) c.7329A>C (p.Gln2443His) c.784A>C n.7415A>C | |
19 | g.38500614A>G | CA069543 | RYR1 | c.7332A>G (p.Gln2444=) c.7329A>G (p.Gln2443=) c.784A>G n.7415A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500614A>T | CA405669836 | RYR1 | c.7332A>T (p.Gln2444His) c.7329A>T (p.Gln2443His) c.784A>T n.7415A>T | dbSNP |
19 | g.38500615G>A | CA405669839 | RYR1 | c.7333G>A (p.Ala2445Thr) c.7330G>A (p.Ala2444Thr) c.785G>A n.7416G>A | |
19 | g.38500615G>C | CA405669842 | RYR1 | c.7333G>C (p.Ala2445Pro) c.7330G>C (p.Ala2444Pro) c.785G>C n.7416G>C | |
19 | g.38500615G>T | CA405669851 | RYR1 | c.7333G>T (p.Ala2445Ser) c.7330G>T (p.Ala2444Ser) c.785G>T n.7416G>T | |
19 | g.38500616C>A | CA082411 | RYR1 | c.7334C>A (p.Ala2445Asp) c.7331C>A (p.Ala2444Asp) c.786C>A n.7417C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500616C= | CA2335053337 | RYR1 | c.7334C= (p.Ala2445=) c.7331C= (p.Ala2444=) c.786C= n.7417C= | |
19 | g.38500616C>G | CA405669855 | RYR1 | c.7334C>G (p.Ala2445Gly) c.7331C>G (p.Ala2444Gly) c.786C>G n.7417C>G | |
19 | g.38500616C>T | CA405669854 | RYR1 | c.7334C>T (p.Ala2445Val) c.7331C>T (p.Ala2444Val) c.786C>T n.7417C>T | |
19 | g.38500617C>A | CA507243409 | RYR1 | c.7335C>A (p.Ala2445=) c.7332C>A (p.Ala2444=) c.787C>A n.7418C>A | |
19 | g.38500617C= | CA2335053338 | RYR1 | c.7335C= (p.Ala2445=) c.7332C= (p.Ala2444=) c.787C= n.7418C= | |
19 | g.38500617C>G | CA507243410 | RYR1 | c.7335C>G (p.Ala2445=) c.7332C>G (p.Ala2444=) c.787C>G n.7418C>G | |
19 | g.38500617C>T | CA069546 | RYR1 | c.7335C>T (p.Ala2445=) c.7332C>T (p.Ala2444=) c.787C>T n.7418C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500618G>A | CA069551 | RYR1 | c.7336G>A (p.Gly2446Ser) c.7333G>A (p.Gly2445Ser) c.788G>A n.7419G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500618G>C | CA405669860 | RYR1 | c.7336G>C (p.Gly2446Arg) c.7333G>C (p.Gly2445Arg) c.788G>C n.7419G>C | dbSNP |
19 | g.38500618G= | CA2335053339 | RYR1 | c.7336G= (p.Gly2446=) c.7333G= (p.Gly2445=) c.788G= n.7419G= | |
19 | g.38500618G>T | CA405669861 | RYR1 | c.7336G>T (p.Gly2446Cys) c.7333G>T (p.Gly2445Cys) c.788G>T n.7419G>T | ClinVar |
19 | g.38500619G>A | CA405669877 | RYR1 | c.7337G>A (p.Gly2446Asp) c.7334G>A (p.Gly2445Asp) c.789G>A n.7420G>A | |
19 | g.38500619G>C | CA405669876 | RYR1 | c.7337G>C (p.Gly2446Ala) c.7334G>C (p.Gly2445Ala) c.789G>C n.7420G>C | |
19 | g.38500619G>T | CA405669874 | RYR1 | c.7337G>T (p.Gly2446Val) c.7334G>T (p.Gly2445Val) c.789G>T n.7420G>T | |
19 | g.38500620C>A | CA507243413 | RYR1 | c.7338C>A (p.Gly2446=) c.7335C>A (p.Gly2445=) c.790C>A n.7421C>A | |
19 | g.38500620C>G | CA507243414 | RYR1 | c.7338C>G (p.Gly2446=) c.7335C>G (p.Gly2445=) c.790C>G n.7421C>G | |
19 | g.38500620C>T | CA082422 | RYR1 | c.7338C>T (p.Gly2446=) c.7335C>T (p.Gly2445=) c.790C>T n.7421C>T | |
19 | g.38500621A= | CA2335053340 | RYR1 | c.7339A= (p.Lys2447=) c.7336A= (p.Lys2446=) c.791A= n.7422A= | |
19 | g.38500621A>C | CA405669880 | RYR1 | c.7339A>C (p.Lys2447Gln) c.7336A>C (p.Lys2446Gln) c.791A>C n.7422A>C | |
19 | g.38500621A>G | CA405669890 | RYR1 | c.7339A>G (p.Lys2447Glu) c.7336A>G (p.Lys2446Glu) c.791A>G n.7422A>G | dbSNP |
19 | g.38500621A>T | CA405669887 | RYR1 | c.7339A>T (p.Lys2447Ter) c.7336A>T (p.Lys2446Ter) c.791A>T n.7422A>T | |
19 | g.38500622A>C | CA405669891 | RYR1 | c.7340A>C (p.Lys2447Thr) c.7337A>C (p.Lys2446Thr) c.792A>C n.7423A>C | |
19 | g.38500622A>G | CA405669895 | RYR1 | c.7340A>G (p.Lys2447Arg) c.7337A>G (p.Lys2446Arg) c.792A>G n.7423A>G | |
19 | g.38500622A>T | CA405669893 | RYR1 | c.7340A>T (p.Lys2447Met) c.7337A>T (p.Lys2446Met) c.792A>T n.7423A>T | |
19 | g.38500623G>A | CA507243417 | RYR1 | c.7341G>A (p.Lys2447=) c.7338G>A (p.Lys2446=) c.793G>A n.7424G>A | COSMIC |
19 | g.38500623G>C | CA405669896 | RYR1 | c.7341G>C (p.Lys2447Asn) c.7338G>C (p.Lys2446Asn) c.793G>C n.7424G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500623G= | CA2335053341 | RYR1 | c.7341G= (p.Lys2447=) c.7338G= (p.Lys2446=) c.793G= n.7424G= | |
19 | g.38500623G>T | CA405669899 | RYR1 | c.7341G>T (p.Lys2447Asn) c.7338G>T (p.Lys2446Asn) c.793G>T n.7424G>T | COSMIC |
19 | g.38500624G>A | CA405669901 | RYR1 | c.7342G>A (p.Gly2448Ser) c.7339G>A (p.Gly2447Ser) c.794G>A n.7425G>A | |
19 | g.38500624G>C | CA405669903 | RYR1 | c.7342G>C (p.Gly2448Arg) c.7339G>C (p.Gly2447Arg) c.794G>C n.7425G>C | |
19 | g.38500624G>T | CA405669905 | RYR1 | c.7342G>T (p.Gly2448Cys) c.7339G>T (p.Gly2447Cys) c.794G>T n.7425G>T | |
19 | g.38500625G>A | CA405669908 | RYR1 | c.7343G>A (p.Gly2448Asp) c.7340G>A (p.Gly2447Asp) c.795G>A n.7426G>A | ClinVar dbSNP |
19 | g.38500625G>C | CA405669909 | RYR1 | c.7343G>C (p.Gly2448Ala) c.7340G>C (p.Gly2447Ala) c.795G>C n.7426G>C | |
19 | g.38500625G= | CA2335053342 | RYR1 | c.7343G= (p.Gly2448=) c.7340G= (p.Gly2447=) c.795G= n.7426G= | |
19 | g.38500625G>T | CA405669911 | RYR1 | c.7343G>T (p.Gly2448Val) c.7340G>T (p.Gly2447Val) c.795G>T n.7426G>T | |
19 | g.38500626T>A | CA507243421 | RYR1 | c.7344T>A (p.Gly2448=) c.7341T>A (p.Gly2447=) c.796T>A n.7427T>A | |
19 | g.38500626T>C | CA069555 | RYR1 | c.7344T>C (p.Gly2448=) c.7341T>C (p.Gly2447=) c.796T>C n.7427T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38500626T>G | CA507243422 | RYR1 | c.7344T>G (p.Gly2448=) c.7341T>G (p.Gly2447=) c.796T>G n.7427T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500626T= | CA2335053343 | RYR1 | c.7344T= (p.Gly2448=) c.7341T= (p.Gly2447=) c.796T= n.7427T= | |
19 | g.38500627G>A | CA405669915 | RYR1 | c.7345G>A (p.Glu2449Lys) c.7342G>A (p.Glu2448Lys) c.797G>A n.7428G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500627G>C | CA405669919 | RYR1 | c.7345G>C (p.Glu2449Gln) c.7342G>C (p.Glu2448Gln) c.797G>C n.7428G>C | ClinVar dbSNP |
19 | g.38500627G= | CA2335053344 | RYR1 | c.7345G= (p.Glu2449=) c.7342G= (p.Glu2448=) c.797G= n.7428G= | |
19 | g.38500627G>T | CA405669921 | RYR1 | c.7345G>T (p.Glu2449Ter) c.7342G>T (p.Glu2448Ter) c.797G>T n.7428G>T | |
19 | g.38500628A>C | CA405669924 | RYR1 | c.7346A>C (p.Glu2449Ala) c.7343A>C (p.Glu2448Ala) c.798A>C n.7429A>C | |
19 | g.38500628A>G | CA405669926 | RYR1 | c.7346A>G (p.Glu2449Gly) c.7343A>G (p.Glu2448Gly) c.798A>G n.7429A>G | |
19 | g.38500628A>T | CA405669929 | RYR1 | c.7346A>T (p.Glu2449Val) c.7343A>T (p.Glu2448Val) c.798A>T n.7429A>T | |
19 | g.38500629G>A | CA507243426 | RYR1 | c.7347G>A (p.Glu2449=) c.7344G>A (p.Glu2448=) c.799G>A n.7430G>A | |
19 | g.38500629G>C | CA405669931 | RYR1 | c.7347G>C (p.Glu2449Asp) c.7344G>C (p.Glu2448Asp) c.799G>C n.7430G>C | |
19 | g.38500629G>T | CA405669933 | RYR1 | c.7347G>T (p.Glu2449Asp) c.7344G>T (p.Glu2448Asp) c.799G>T n.7430G>T | |
19 | g.38500630G>A | CA405669938 | RYR1 | c.7348G>A (p.Ala2450Thr) c.7345G>A (p.Ala2449Thr) c.800G>A n.7431G>A | gnomAD v4 |
19 | g.38500630G>C | CA405669941 | RYR1 | c.7348G>C (p.Ala2450Pro) c.7345G>C (p.Ala2449Pro) c.800G>C n.7431G>C | |
19 | g.38500630G>T | CA405669943 | RYR1 | c.7348G>T (p.Ala2450Ser) c.7345G>T (p.Ala2449Ser) c.800G>T n.7431G>T | |
19 | g.38500631C>A | CA405669947 | RYR1 | c.7349C>A (p.Ala2450Asp) c.7346C>A (p.Ala2449Asp) c.801C>A n.7432C>A | gnomAD v4 |
19 | g.38500631C= | CA2335053345 | RYR1 | c.7349C= (p.Ala2450=) c.7346C= (p.Ala2449=) c.801C= n.7432C= | |
19 | g.38500631C>G | CA405669950 | RYR1 | c.7349C>G (p.Ala2450Gly) c.7346C>G (p.Ala2449Gly) c.801C>G n.7432C>G | |
19 | g.38500631C>T | CA069560 | RYR1 | c.7349C>T (p.Ala2450Val) c.7346C>T (p.Ala2449Val) c.801C>T n.7432C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500633del | CA2736030310 | RYR1 | c.7351del (p.Leu2451CysfsTer?) c.7348del (p.Leu2450CysfsTer?) c.803del n.7434del | dbSNP |
19 | g.38500632C>A | CA507243429 | RYR1 | c.7350C>A (p.Ala2450=) c.7347C>A (p.Ala2449=) c.802C>A n.7433C>A | |
19 | g.38500632C= | CA2335053346 | RYR1 | c.7350C= (p.Ala2450=) c.7347C= (p.Ala2449=) c.802C= n.7433C= | |
19 | g.38500632C>G | CA507243431 | RYR1 | c.7350C>G (p.Ala2450=) c.7347C>G (p.Ala2449=) c.802C>G n.7433C>G | |
19 | g.38500632C>T | CA507243432 | RYR1 | c.7350C>T (p.Ala2450=) c.7347C>T (p.Ala2449=) c.802C>T n.7433C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500633C>A | CA405669956 | RYR1 | c.7351C>A (p.Leu2451Met) c.7348C>A (p.Leu2450Met) c.803C>A n.7434C>A | |
19 | g.38500633C= | CA2335053347 | RYR1 | c.7351C= (p.Leu2451=) c.7348C= (p.Leu2450=) c.803C= n.7434C= | |
19 | g.38500633C>G | CA405669957 | RYR1 | c.7351C>G (p.Leu2451Val) c.7348C>G (p.Leu2450Val) c.803C>G n.7434C>G | |
19 | g.38500633C>T | CA507243433 | RYR1 | c.7351C>T (p.Leu2451=) c.7348C>T (p.Leu2450=) c.803C>T n.7434C>T | dbSNP |
19 | g.38500634T>A | CA405669958 | RYR1 | c.7352T>A (p.Leu2451Gln) c.7349T>A (p.Leu2450Gln) c.804T>A n.7435T>A | |
19 | g.38500634T>C | CA405669960 | RYR1 | c.7352T>C (p.Leu2451Pro) c.7349T>C (p.Leu2450Pro) c.804T>C n.7435T>C | |
19 | g.38500634T>G | CA405669963 | RYR1 | c.7352T>G (p.Leu2451Arg) c.7349T>G (p.Leu2450Arg) c.804T>G n.7435T>G | |
19 | g.38500635G>A | CA507243437 | RYR1 | c.7353G>A (p.Leu2451=) c.7350G>A (p.Leu2450=) c.805G>A n.7436G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500635G>C | CA507243439 | RYR1 | c.7353G>C (p.Leu2451=) c.7350G>C (p.Leu2450=) c.805G>C n.7436G>C | |
19 | g.38500635G= | CA2335053348 | RYR1 | c.7353G= (p.Leu2451=) c.7350G= (p.Leu2450=) c.805G= n.7436G= | |
19 | g.38500635G>T | CA507243440 | RYR1 | c.7353G>T (p.Leu2451=) c.7350G>T (p.Leu2450=) c.805G>T n.7436G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500636C>A | CA507243441 | RYR1 | c.7354C>A (p.Arg2452=) c.7351C>A (p.Arg2451=) c.806C>A n.7437C>A | |
19 | g.38500636C= | CA2335053349 | RYR1 | c.7354C= (p.Arg2452=) c.7351C= (p.Arg2451=) c.806C= n.7437C= | |
19 | g.38500636C>G | CA405669966 | RYR1 | c.7354C>G (p.Arg2452Gly) c.7351C>G (p.Arg2451Gly) c.806C>G n.7437C>G | |
19 | g.38500636C>T | CA024770 | RYR1 | c.7354C>T (p.Arg2452Trp) c.7351C>T (p.Arg2451Trp) c.806C>T n.7437C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38500637G>A | CA024772 | RYR1 | c.7355G>A (p.Arg2452Gln) c.7352G>A (p.Arg2451Gln) c.807G>A n.7438G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500637G>C | CA405669968 | RYR1 | c.7355G>C (p.Arg2452Pro) c.7352G>C (p.Arg2451Pro) c.807G>C n.7438G>C | ClinVar dbSNP |
19 | g.38500637G= | CA2335053350 | RYR1 | c.7355G= (p.Arg2452=) c.7352G= (p.Arg2451=) c.807G= n.7438G= | |
19 | g.38500637G>T | CA405669969 | RYR1 | c.7355G>T (p.Arg2452Leu) c.7352G>T (p.Arg2451Leu) c.807G>T n.7438G>T | |
19 | g.38500638G>A | CA507243448 | RYR1 | c.7356G>A (p.Arg2452=) c.7353G>A (p.Arg2451=) c.808G>A n.7439G>A | gnomAD v4 COSMIC |
19 | g.38500638G>C | CA507243449 | RYR1 | c.7356G>C (p.Arg2452=) c.7353G>C (p.Arg2451=) c.808G>C n.7439G>C | gnomAD v4 |
19 | g.38500638G>T | CA507243450 | RYR1 | c.7356G>T (p.Arg2452=) c.7353G>T (p.Arg2451=) c.808G>T n.7439G>T | gnomAD v4 |
19 | g.38500639A= | CA2335053351 | RYR1 | c.7357A= (p.Ile2453=) c.7354A= (p.Ile2452=) c.809A= n.7440A= | |
19 | g.38500639A>C | CA405669970 | RYR1 | c.7357A>C (p.Ile2453Leu) c.7354A>C (p.Ile2452Leu) c.809A>C n.7440A>C | |
19 | g.38500639A>G | CA069563 | RYR1 | c.7357A>G (p.Ile2453Val) c.7354A>G (p.Ile2452Val) c.809A>G n.7440A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500639A>T | CA405669971 | RYR1 | c.7357A>T (p.Ile2453Phe) c.7354A>T (p.Ile2452Phe) c.809A>T n.7440A>T | |
19 | g.38500640T>A | CA405669973 | RYR1 | c.7358T>A (p.Ile2453Asn) c.7355T>A (p.Ile2452Asn) c.810T>A n.7441T>A | |
19 | g.38500640T>C | CA024775 | RYR1 | c.7358T>C (p.Ile2453Thr) c.7355T>C (p.Ile2452Thr) c.810T>C n.7441T>C | ClinVar dbSNP |
19 | g.38500640T>G | CA405669975 | RYR1 | c.7358T>G (p.Ile2453Ser) c.7355T>G (p.Ile2452Ser) c.810T>G n.7441T>G | |
19 | g.38500640T= | CA2335053352 | RYR1 | c.7358T= (p.Ile2453=) c.7355T= (p.Ile2452=) c.810T= n.7441T= | |
19 | g.38500641C>A | CA507243458 | RYR1 | c.7359C>A (p.Ile2453=) c.7356C>A (p.Ile2452=) c.811C>A n.7442C>A | gnomAD v4 |
19 | g.38500641C>G | CA405669976 | RYR1 | c.7359C>G (p.Ile2453Met) c.7356C>G (p.Ile2452Met) c.811C>G n.7442C>G | |
19 | g.38500641C>T | CA507243460 | RYR1 | c.7359C>T (p.Ile2453=) c.7356C>T (p.Ile2452=) c.811C>T n.7442C>T | |
19 | g.38500641_38500643delinsCCG | CA2335053353 | RYR1 | c.7359_7361delinsCCG (p.Ile2453=) c.7356_7358delinsCCG (p.Ile2452=) c.811_813delinsCCG n.7442_7444delinsCCG | |
19 | g.38500642C>A | CA405669978 | RYR1 | c.7360C>A (p.Arg2454Ser) c.7357C>A (p.Arg2453Ser) c.812C>A n.7443C>A | ClinVar |
19 | g.38500642C= | CA2335053354 | RYR1 | c.7360C= (p.Arg2454=) c.7357C= (p.Arg2453=) c.812C= n.7443C= | |
19 | g.38500642C>G | CA405669980 | RYR1 | c.7360C>G (p.Arg2454Gly) c.7357C>G (p.Arg2453Gly) c.812C>G n.7443C>G | |
19 | g.38500642C>T | CA024778 | RYR1 | c.7360C>T (p.Arg2454Cys) c.7357C>T (p.Arg2453Cys) c.812C>T n.7443C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500645_38500646del | CA632874717 | RYR1 | c.7363_7364del (p.Ala2455HisfsTer?) c.7360_7361del (p.Ala2454HisfsTer?) c.815_816del n.7446_7447del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500643G>A | CA024781 | RYR1 | c.7361G>A (p.Arg2454His) c.7358G>A (p.Arg2453His) c.813G>A n.7444G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500643G>C | CA405669986 | RYR1 | c.7361G>C (p.Arg2454Pro) c.7358G>C (p.Arg2453Pro) c.813G>C n.7444G>C | |
19 | g.38500643G= | CA2335053355 | RYR1 | c.7361G= (p.Arg2454=) c.7358G= (p.Arg2453=) c.813G= n.7444G= | |
19 | g.38500643G>T | CA405669985 | RYR1 | c.7361G>T (p.Arg2454Leu) c.7358G>T (p.Arg2453Leu) c.813G>T n.7444G>T | |
19 | g.38500644C>A | CA507243464 | RYR1 | c.7362C>A (p.Arg2454=) c.7359C>A (p.Arg2453=) c.814C>A n.7445C>A | |
19 | g.38500644C= | CA2335053356 | RYR1 | c.7362C= (p.Arg2454=) c.7359C= (p.Arg2453=) c.814C= n.7445C= | |
19 | g.38500644C>G | CA507243465 | RYR1 | c.7362C>G (p.Arg2454=) c.7359C>G (p.Arg2453=) c.814C>G n.7445C>G | |
19 | g.38500644C>T | CA069571 | RYR1 | c.7362C>T (p.Arg2454=) c.7359C>T (p.Arg2453=) c.814C>T n.7445C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38500645G>A | CA069575 | RYR1 | c.7363G>A (p.Ala2455Thr) c.7360G>A (p.Ala2454Thr) c.815G>A n.7446G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500645G>C | CA405669990 | RYR1 | c.7363G>C (p.Ala2455Pro) c.7360G>C (p.Ala2454Pro) c.815G>C n.7446G>C | |
19 | g.38500645G= | CA2335053357 | RYR1 | c.7363G= (p.Ala2455=) c.7360G= (p.Ala2454=) c.815G= n.7446G= | |
19 | g.38500645G>T | CA405669993 | RYR1 | c.7363G>T (p.Ala2455Ser) c.7360G>T (p.Ala2454Ser) c.815G>T n.7446G>T | |
19 | g.38500646C>A | CA405669995 | RYR1 | c.7364C>A (p.Ala2455Asp) c.7361C>A (p.Ala2454Asp) c.816C>A n.7447C>A | ClinVar dbSNP |
19 | g.38500646C= | CA2335053358 | RYR1 | c.7364C= (p.Ala2455=) c.7361C= (p.Ala2454=) c.816C= n.7447C= | |
19 | g.38500646C>G | CA405669998 | RYR1 | c.7364C>G (p.Ala2455Gly) c.7361C>G (p.Ala2454Gly) c.816C>G n.7447C>G | |
19 | g.38500646C>T | CA405670000 | RYR1 | c.7364C>T (p.Ala2455Val) c.7361C>T (p.Ala2454Val) c.816C>T n.7447C>T | dbSNP |
19 | g.38500647C>A | CA507243469 | RYR1 | c.7365C>A (p.Ala2455=) c.7362C>A (p.Ala2454=) c.817C>A n.7448C>A | |
19 | g.38500647C>G | CA507243468 | RYR1 | c.7365C>G (p.Ala2455=) c.7362C>G (p.Ala2454=) c.817C>G n.7448C>G | |
19 | g.38500647C>T | CA082429 | RYR1 | c.7365C>T (p.Ala2455=) c.7362C>T (p.Ala2454=) c.817C>T n.7448C>T | |
19 | g.38500648A>C | CA405670002 | RYR1 | c.7366A>C (p.Ile2456Leu) c.7363A>C (p.Ile2455Leu) c.818A>C n.7449A>C | |
19 | g.38500648A>G | CA405670004 | RYR1 | c.7366A>G (p.Ile2456Val) c.7363A>G (p.Ile2455Val) c.818A>G n.7449A>G | gnomAD v4 |
19 | g.38500648A>T | CA405670007 | RYR1 | c.7366A>T (p.Ile2456Phe) c.7363A>T (p.Ile2455Phe) c.818A>T n.7449A>T | |
19 | g.38500649del | CA2584900520 | RYR1 | c.7367del (p.Ile2456ThrfsTer?) c.7364del (p.Ile2455ThrfsTer?) c.819del n.7450del | gnomAD v4 |
19 | g.38500649T>A | CA405670013 | RYR1 | c.7367T>A (p.Ile2456Asn) c.7364T>A (p.Ile2455Asn) c.819T>A n.7450T>A | |
19 | g.38500649T>C | CA405670014 | RYR1 | c.7367T>C (p.Ile2456Thr) c.7364T>C (p.Ile2455Thr) c.819T>C n.7450T>C | |
19 | g.38500649T>G | CA405670011 | RYR1 | c.7367T>G (p.Ile2456Ser) c.7364T>G (p.Ile2455Ser) c.819T>G n.7450T>G | |
19 | g.38500650C>A | CA507243475 | RYR1 | c.7368C>A (p.Ile2456=) c.7365C>A (p.Ile2455=) c.820C>A n.7451C>A | |
19 | g.38500650C= | CA2335053359 | RYR1 | c.7368C= (p.Ile2456=) c.7365C= (p.Ile2455=) c.820C= n.7451C= | |
19 | g.38500650C>G | CA405670016 | RYR1 | c.7368C>G (p.Ile2456Met) c.7365C>G (p.Ile2455Met) c.820C>G n.7451C>G | ClinVar |
19 | g.38500650C>T | CA069579 | RYR1 | c.7368C>T (p.Ile2456=) c.7365C>T (p.Ile2455=) c.820C>T n.7451C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500651C>A | CA405670018 | RYR1 | c.7369C>A (p.Leu2457Ile) c.7366C>A (p.Leu2456Ile) c.821C>A n.7452C>A | |
19 | g.38500651C>G | CA405670020 | RYR1 | c.7369C>G (p.Leu2457Val) c.7366C>G (p.Leu2456Val) c.821C>G n.7452C>G | |
19 | g.38500651C>T | CA405670022 | RYR1 | c.7369C>T (p.Leu2457Phe) c.7366C>T (p.Leu2456Phe) c.821C>T n.7452C>T | |
19 | g.38500652T>A | CA405670026 | RYR1 | c.7370T>A (p.Leu2457His) c.7367T>A (p.Leu2456His) c.822T>A n.7453T>A | |
19 | g.38500652T>C | CA405670024 | RYR1 | c.7370T>C (p.Leu2457Pro) c.7367T>C (p.Leu2456Pro) c.822T>C n.7453T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500652T>G | CA405670023 | RYR1 | c.7370T>G (p.Leu2457Arg) c.7367T>G (p.Leu2456Arg) c.822T>G n.7453T>G | |
19 | g.38500652T= | CA2335053360 | RYR1 | c.7370T= (p.Leu2457=) c.7367T= (p.Leu2456=) c.822T= n.7453T= | |
19 | g.38500653C>A | CA507243478 | RYR1 | c.7371C>A (p.Leu2457=) c.7368C>A (p.Leu2456=) c.823C>A n.7454C>A | |
19 | g.38500653C>G | CA507243480 | RYR1 | c.7371C>G (p.Leu2457=) c.7368C>G (p.Leu2456=) c.823C>G n.7454C>G | |
19 | g.38500653C>T | CA082431 | RYR1 | c.7371C>T (p.Leu2457=) c.7368C>T (p.Leu2456=) c.823C>T n.7454C>T | |
19 | g.38500654C>A | CA405670027 | RYR1 | c.7372C>A (p.Arg2458Ser) c.7369C>A (p.Arg2457Ser) c.824C>A n.7455C>A | |
19 | g.38500654C= | CA2335053361 | RYR1 | c.7372C= (p.Arg2458=) c.7369C= (p.Arg2457=) c.824C= n.7455C= | |
19 | g.38500654C>G | CA405670029 | RYR1 | c.7372C>G (p.Arg2458Gly) c.7369C>G (p.Arg2457Gly) c.824C>G n.7455C>G | |
19 | g.38500654C>T | CA024784 | RYR1 | c.7372C>T (p.Arg2458Cys) c.7369C>T (p.Arg2457Cys) c.824C>T n.7455C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500655G>A | CA024787 | RYR1 | c.7373G>A (p.Arg2458His) c.7370G>A (p.Arg2457His) c.825G>A n.7456G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38500655G>C | CA405670031 | RYR1 | c.7373G>C (p.Arg2458Pro) c.7370G>C (p.Arg2457Pro) c.825G>C n.7456G>C | |
19 | g.38500655G= | CA2335053362 | RYR1 | c.7373G= (p.Arg2458=) c.7370G= (p.Arg2457=) c.825G= n.7456G= | |
19 | g.38500655G>T | CA405670033 | RYR1 | c.7373G>T (p.Arg2458Leu) c.7370G>T (p.Arg2457Leu) c.825G>T n.7456G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38500656C>A | CA507243486 | RYR1 | c.7374C>A (p.Arg2458=) c.7371C>A (p.Arg2457=) c.826C>A n.7457C>A | |
19 | g.38500656C>G | CA507243488 | RYR1 | c.7374C>G (p.Arg2458=) c.7371C>G (p.Arg2457=) c.826C>G n.7457C>G | |
19 | g.38500656C>T | CA082407 | RYR1 | c.7374C>T (p.Arg2458=) c.7371C>T (p.Arg2457=) c.826C>T n.7457C>T | ClinVar gnomAD v4 |
19 | g.38500657T>A | CA405670035 | RYR1 | c.7375T>A (p.Ser2459Thr) c.7372T>A (p.Ser2458Thr) c.827T>A n.7458T>A | |
19 | g.38500657T>C | CA405670038 | RYR1 | c.7375T>C (p.Ser2459Pro) c.7372T>C (p.Ser2458Pro) c.827T>C n.7458T>C | ClinVar dbSNP |
19 | g.38500657T>G | CA405670037 | RYR1 | c.7375T>G (p.Ser2459Ala) c.7372T>G (p.Ser2458Ala) c.827T>G n.7458T>G | |
19 | g.38500657T= | CA2335053363 | RYR1 | c.7375T= (p.Ser2459=) c.7372T= (p.Ser2458=) c.827T= n.7458T= | |
19 | g.38500658C>A | CA405670040 | RYR1 | c.7376C>A (p.Ser2459Tyr) c.7373C>A (p.Ser2458Tyr) c.828C>A n.7459C>A | |
19 | g.38500658C>G | CA405670041 | RYR1 | c.7376C>G (p.Ser2459Cys) c.7373C>G (p.Ser2458Cys) c.828C>G n.7459C>G | |
19 | g.38500658C>T | CA405670043 | RYR1 | c.7376C>T (p.Ser2459Phe) c.7373C>T (p.Ser2458Phe) c.828C>T n.7459C>T | ClinVar COSMIC |
19 | g.38500659C>A | CA507353943 | RYR1 | c.7377C>A (p.Ser2459=) c.7374C>A (p.Ser2458=) c.829C>A n.7460C>A | |
19 | g.38500659C>G | CA507353944 | RYR1 | c.7377C>G (p.Ser2459=) c.7374C>G (p.Ser2458=) c.829C>G n.7460C>G | |
19 | g.38500659C>T | CA507353945 | RYR1 | c.7377C>T (p.Ser2459=) c.7374C>T (p.Ser2458=) c.829C>T n.7460C>T | COSMIC |
19 | g.38500660C>A | CA405670044 | RYR1 | c.7378C>A (p.Leu2460Ile) c.7375C>A (p.Leu2459Ile) c.830C>A n.7461C>A | |
19 | g.38500660C>G | CA405670045 | RYR1 | c.7378C>G (p.Leu2460Val) c.7375C>G (p.Leu2459Val) c.830C>G n.7461C>G | |
19 | g.38500660C>T | CA405670047 | RYR1 | c.7378C>T (p.Leu2460Phe) c.7375C>T (p.Leu2459Phe) c.830C>T n.7461C>T | ClinVar dbSNP |
19 | g.38500661T>A | CA405670049 | RYR1 | c.7379T>A (p.Leu2460His) c.7376T>A (p.Leu2459His) c.831T>A n.7462T>A | |
19 | g.38500661T>C | CA405670050 | RYR1 | c.7379T>C (p.Leu2460Pro) c.7376T>C (p.Leu2459Pro) c.831T>C n.7462T>C | |
19 | g.38500661T>G | CA405670052 | RYR1 | c.7379T>G (p.Leu2460Arg) c.7376T>G (p.Leu2459Arg) c.831T>G n.7462T>G | |
19 | g.38500662T>A | CA507353947 | RYR1 | c.7380T>A (p.Leu2460=) c.7377T>A (p.Leu2459=) c.832T>A n.7463T>A | |
19 | g.38500662T>C | CA507353948 | RYR1 | c.7380T>C (p.Leu2460=) c.7377T>C (p.Leu2459=) c.832T>C n.7463T>C | |
19 | g.38500662T>G | CA507353946 | RYR1 | c.7380T>G (p.Leu2460=) c.7377T>G (p.Leu2459=) c.832T>G n.7463T>G | ClinVar dbSNP |
19 | g.38500662T= | CA2335053364 | RYR1 | c.7380T= (p.Leu2460=) c.7377T= (p.Leu2459=) c.832T= n.7463T= |