Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38499528_38499571del | CA2584899946 | RYR1 | c.7028-107_7028-64del (n.7028-107_7028-64del) c.7025-107_7025-64del (n.7025-107_7025-64del) c.480-107_480-64del n.7111-107_7111-64del | gnomAD v4 |
19 | g.38499569T>C | CA2584899991 | RYR1 | c.7028-66T>C (n.7028-66T>C) c.7025-66T>C (n.7025-66T>C) c.480-66T>C n.7111-66T>C | gnomAD v4 |
19 | g.38499569T>G | CA2584899992 | RYR1 | c.7028-66T>G (n.7028-66T>G) c.7025-66T>G (n.7025-66T>G) c.480-66T>G n.7111-66T>G | gnomAD v4 |
19 | g.38499574_38499583del | CA2584899990 | RYR1 | c.7028-61_7028-52del (n.7028-61_7028-52del) c.7025-61_7025-52del (n.7025-61_7025-52del) c.480-61_480-52del n.7111-61_7111-52del | gnomAD v4 |
19 | g.38499570G>A | CA2584899993 | RYR1 | c.7028-65G>A (n.7028-65G>A) c.7025-65G>A (n.7025-65G>A) c.480-65G>A n.7111-65G>A | gnomAD v4 |
19 | g.38499570G>T | CA2584899994 | RYR1 | c.7028-65G>T (n.7028-65G>T) c.7025-65G>T (n.7025-65G>T) c.480-65G>T n.7111-65G>T | gnomAD v4 |
19 | g.38499572_38499573del | CA2843262407 | RYR1 | c.7028-63_7028-62del (n.7028-63_7028-62del) c.7025-63_7025-62del (n.7025-63_7025-62del) c.480-63_480-62del n.7111-63_7111-62del | |
19 | g.38499571G>C | CA2584899995 | RYR1 | c.7028-64G>C (n.7028-64G>C) c.7025-64G>C (n.7025-64G>C) c.480-64G>C n.7111-64G>C | gnomAD v4 |
19 | g.38499572G>T | CA2584899996 | RYR1 | c.7028-63G>T (n.7028-63G>T) c.7025-63G>T (n.7025-63G>T) c.480-63G>T n.7111-63G>T | gnomAD v4 |
19 | g.38499573G>A | CA2584899997 | RYR1 | c.7028-62G>A (n.7028-62G>A) c.7025-62G>A (n.7025-62G>A) c.480-62G>A n.7111-62G>A | gnomAD v4 |
19 | g.38499574C>A | CA2584899998 | RYR1 | c.7028-61C>A (n.7028-61C>A) c.7025-61C>A (n.7025-61C>A) c.480-61C>A n.7111-61C>A | gnomAD v4 |
19 | g.38499576G>A | CA2584899999 | RYR1 | c.7028-59G>A (n.7028-59G>A) c.7025-59G>A (n.7025-59G>A) c.480-59G>A n.7111-59G>A | gnomAD v4 |
19 | g.38499576G>T | CA2584900000 | RYR1 | c.7028-59G>T (n.7028-59G>T) c.7025-59G>T (n.7025-59G>T) c.480-59G>T n.7111-59G>T | gnomAD v4 |
19 | g.38499577C>T | CA657360680 | RYR1 | c.7028-58C>T (n.7028-58C>T) c.7025-58C>T (n.7025-58C>T) c.480-58C>T n.7111-58C>T | COSMIC |
19 | g.38499578A>G | CA2584900001 | RYR1 | c.7028-57A>G (n.7028-57A>G) c.7025-57A>G (n.7025-57A>G) c.480-57A>G n.7111-57A>G | gnomAD v4 |
19 | g.38499578A>T | CA2584900002 | RYR1 | c.7028-57A>T (n.7028-57A>T) c.7025-57A>T (n.7025-57A>T) c.480-57A>T n.7111-57A>T | gnomAD v4 |
19 | g.38499580G>T | CA2584900003 | RYR1 | c.7028-55G>T (n.7028-55G>T) c.7025-55G>T (n.7025-55G>T) c.480-55G>T n.7111-55G>T | gnomAD v4 |
19 | g.38499581G>A | CA2335052817 | RYR1 | c.7028-54G>A (n.7028-54G>A) c.7025-54G>A (n.7025-54G>A) c.480-54G>A n.7111-54G>A | dbSNP gnomAD v4 |
19 | g.38499581G= | CA2335052816 | RYR1 | c.7028-54G= (n.7028-54G=) c.7025-54G= (n.7025-54G=) c.480-54G= n.7111-54G= | |
19 | g.38499581G>T | CA2584900004 | RYR1 | c.7028-54G>T (n.7028-54G>T) c.7025-54G>T (n.7025-54G>T) c.480-54G>T n.7111-54G>T | gnomAD v4 |
19 | g.38499582G>A | CA2584900005 | RYR1 | c.7028-53G>A (n.7028-53G>A) c.7025-53G>A (n.7025-53G>A) c.480-53G>A n.7111-53G>A | gnomAD v4 |
19 | g.38499583G>T | CA2584900006 | RYR1 | c.7028-52G>T (n.7028-52G>T) c.7025-52G>T (n.7025-52G>T) c.480-52G>T n.7111-52G>T | gnomAD v4 |
19 | g.38499586G>A | CA882060714 | RYR1 | c.7028-49G>A (n.7028-49G>A) c.7025-49G>A (n.7025-49G>A) c.480-49G>A n.7111-49G>A | dbSNP gnomAD v4 |
19 | g.38499586G= | CA2335052818 | RYR1 | c.7028-49G= (n.7028-49G=) c.7025-49G= (n.7025-49G=) c.480-49G= n.7111-49G= | |
19 | g.38499587T>C | CA2584900007 | RYR1 | c.7028-48T>C (n.7028-48T>C) c.7025-48T>C (n.7025-48T>C) c.480-48T>C n.7111-48T>C | gnomAD v4 |
19 | g.38499588C>T | CA2576771069 | RYR1 | c.7028-47C>T (n.7028-47C>T) c.7025-47C>T (n.7025-47C>T) c.480-47C>T n.7111-47C>T | gnomAD v4 |
19 | g.38499592G>C | CA2584900008 | RYR1 | c.7028-43G>C (n.7028-43G>C) c.7025-43G>C (n.7025-43G>C) c.480-43G>C n.7111-43G>C | gnomAD v4 |
19 | g.38499593A= | CA2335052819 | RYR1 | c.7028-42A= (n.7028-42A=) c.7025-42A= (n.7025-42A=) c.480-42A= n.7111-42A= | |
19 | g.38499593A>G | CA882060715 | RYR1 | c.7028-42A>G (n.7028-42A>G) c.7025-42A>G (n.7025-42A>G) c.480-42A>G n.7111-42A>G | dbSNP |
19 | g.38499596G>A | CA2584900009 | RYR1 | c.7028-39G>A (n.7028-39G>A) c.7025-39G>A (n.7025-39G>A) c.480-39G>A n.7111-39G>A | gnomAD v4 |
19 | g.38499597T>A | CA2584900010 | RYR1 | c.7028-38T>A (n.7028-38T>A) c.7025-38T>A (n.7025-38T>A) c.480-38T>A n.7111-38T>A | gnomAD v4 |
19 | g.38499598G>T | CA2584900011 | RYR1 | c.7028-37G>T (n.7028-37G>T) c.7025-37G>T (n.7025-37G>T) c.480-37G>T n.7111-37G>T | gnomAD v4 |
19 | g.38499599G>A | CA2584900012 | RYR1 | c.7028-36G>A (n.7028-36G>A) c.7025-36G>A (n.7025-36G>A) c.480-36G>A n.7111-36G>A | gnomAD v4 |
19 | g.38499599G= | CA2335052820 | RYR1 | c.7028-36G= (n.7028-36G=) c.7025-36G= (n.7025-36G=) c.480-36G= n.7111-36G= | |
19 | g.38499599G>T | CA069036 | RYR1 | c.7028-36G>T (n.7028-36G>T) c.7025-36G>T (n.7025-36G>T) c.480-36G>T n.7111-36G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499600C>A | CA2584900013 | RYR1 | c.7028-35C>A (n.7028-35C>A) c.7025-35C>A (n.7025-35C>A) c.480-35C>A n.7111-35C>A | gnomAD v4 |
19 | g.38499600C>T | CA2584900014 | RYR1 | c.7028-35C>T (n.7028-35C>T) c.7025-35C>T (n.7025-35C>T) c.480-35C>T n.7111-35C>T | gnomAD v4 |
19 | g.38499601T>C | CA2584900015 | RYR1 | c.7028-34T>C (n.7028-34T>C) c.7025-34T>C (n.7025-34T>C) c.480-34T>C n.7111-34T>C | gnomAD v4 |
19 | g.38499602C= | CA2335052821 | RYR1 | c.7028-33C= (n.7028-33C=) c.7025-33C= (n.7025-33C=) c.480-33C= n.7111-33C= | |
19 | g.38499602C>T | CA082304 | RYR1 | c.7028-33C>T (n.7028-33C>T) c.7025-33C>T (n.7025-33C>T) c.480-33C>T n.7111-33C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499603A>G | CA2576771070 | RYR1 | c.7028-32A>G (n.7028-32A>G) c.7025-32A>G (n.7025-32A>G) c.480-32A>G n.7111-32A>G | |
19 | g.38499604T>C | CA2584900016 | RYR1 | c.7028-31T>C (n.7028-31T>C) c.7025-31T>C (n.7025-31T>C) c.480-31T>C n.7111-31T>C | gnomAD v4 |
19 | g.38499604T>G | CA2576771071 | RYR1 | c.7028-31T>G (n.7028-31T>G) c.7025-31T>G (n.7025-31T>G) c.480-31T>G n.7111-31T>G | gnomAD v4 |
19 | g.38499605G>C | CA632874634 | RYR1 | c.7028-30G>C (n.7028-30G>C) c.7025-30G>C (n.7025-30G>C) c.480-30G>C n.7111-30G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499605G= | CA2335052822 | RYR1 | c.7028-30G= (n.7028-30G=) c.7025-30G= (n.7025-30G=) c.480-30G= n.7111-30G= | |
19 | g.38499605G>T | CA2584900017 | RYR1 | c.7028-30G>T (n.7028-30G>T) c.7025-30G>T (n.7025-30G>T) c.480-30G>T n.7111-30G>T | gnomAD v4 |
19 | g.38499606A>G | CA2584900018 | RYR1 | c.7028-29A>G (n.7028-29A>G) c.7025-29A>G (n.7025-29A>G) c.480-29A>G n.7111-29A>G | gnomAD v4 |
19 | g.38499607G>A | CA882060719 | RYR1 | c.7028-28G>A (n.7028-28G>A) c.7025-28G>A (n.7025-28G>A) c.480-28G>A n.7111-28G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499607G= | CA2335052823 | RYR1 | c.7028-28G= (n.7028-28G=) c.7025-28G= (n.7025-28G=) c.480-28G= n.7111-28G= | |
19 | g.38499608A= | CA2335052824 | RYR1 | c.7028-27A= (n.7028-27A=) c.7025-27A= (n.7025-27A=) c.480-27A= n.7111-27A= | |
19 | g.38499608A>C | CA2335052825 | RYR1 | c.7028-27A>C (n.7028-27A>C) c.7025-27A>C (n.7025-27A>C) c.480-27A>C n.7111-27A>C | dbSNP |
19 | g.38499608A>T | CA069031 | RYR1 | c.7028-27A>T (n.7028-27A>T) c.7025-27A>T (n.7025-27A>T) c.480-27A>T n.7111-27A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499609C>T | CA2584900019 | RYR1 | c.7028-26C>T (n.7028-26C>T) c.7025-26C>T (n.7025-26C>T) c.480-26C>T n.7111-26C>T | gnomAD v4 |
19 | g.38499613dup | CA9415814 | RYR1 | c.7028-22dup (n.7028-22dup) c.7025-22dup (n.7025-22dup) c.480-22dup n.7111-22dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499610C>A | CA308107717 | RYR1 | c.7028-25C>A (n.7028-25C>A) c.7025-25C>A (n.7025-25C>A) c.480-25C>A n.7111-25C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499610C= | CA2335052826 | RYR1 | c.7028-25C= (n.7028-25C=) c.7025-25C= (n.7025-25C=) c.480-25C= n.7111-25C= | |
19 | g.38499610C>T | CA2584900020 | RYR1 | c.7028-25C>T (n.7028-25C>T) c.7025-25C>T (n.7025-25C>T) c.480-25C>T n.7111-25C>T | gnomAD v4 |
19 | g.38499611C>A | CA2584900021 | RYR1 | c.7028-24C>A (n.7028-24C>A) c.7025-24C>A (n.7025-24C>A) c.480-24C>A n.7111-24C>A | gnomAD v4 |
19 | g.38499611C>T | CA2576771072 | RYR1 | c.7028-24C>T (n.7028-24C>T) c.7025-24C>T (n.7025-24C>T) c.480-24C>T n.7111-24C>T | |
19 | g.38499613C>T | CA2584900022 | RYR1 | c.7028-22C>T (n.7028-22C>T) c.7025-22C>T (n.7025-22C>T) c.480-22C>T n.7111-22C>T | gnomAD v4 |
19 | g.38499613_38499614delinsCT | CA2335052827 | RYR1 | c.7028-22_7028-21delinsCT (n.7028-22_7028-21delinsCT) c.7025-22_7025-21delinsCT (n.7025-22_7025-21delinsCT) c.480-22_480-21delinsCT n.7111-22_7111-21delinsCT | |
19 | g.38499616del | CA632874635 | RYR1 | c.7028-19del (n.7028-19del) c.7025-19del (n.7025-19del) c.480-19del n.7111-19del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499615T>C | CA632874636 | RYR1 | c.7028-20T>C (n.7028-20T>C) c.7025-20T>C (n.7025-20T>C) c.480-20T>C n.7111-20T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499615T= | CA2335052828 | RYR1 | c.7028-20T= (n.7028-20T=) c.7025-20T= (n.7025-20T=) c.480-20T= n.7111-20T= | |
19 | g.38499616_38499617delinsTC | CA2335052829 | RYR1 | c.7028-19_7028-18delinsTC (n.7028-19_7028-18delinsTC) c.7025-19_7025-18delinsTC (n.7025-19_7025-18delinsTC) c.480-19_480-18delinsTC n.7111-19_7111-18delinsTC | |
19 | g.38499617C>T | CA2584900023 | RYR1 | c.7028-18C>T (n.7028-18C>T) c.7025-18C>T (n.7025-18C>T) c.480-18C>T n.7111-18C>T | gnomAD v4 |
19 | g.38499620del | CA2335052830 | RYR1 | c.7028-15del (n.7028-15del) c.7025-15del (n.7025-15del) c.480-15del n.7111-15del | dbSNP gnomAD v4 |
19 | g.38499618C= | CA2335052831 | RYR1 | c.7028-17C= (n.7028-17C=) c.7025-17C= (n.7025-17C=) c.480-17C= n.7111-17C= | |
19 | g.38499618C>T | CA069029 | RYR1 | c.7028-17C>T (n.7028-17C>T) c.7025-17C>T (n.7025-17C>T) c.480-17C>T n.7111-17C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499619C>A | CA2843262408 | RYR1 | c.7028-16C>A (n.7028-16C>A) c.7025-16C>A (n.7025-16C>A) c.480-16C>A n.7111-16C>A | |
19 | g.38499619C>T | CA2576771073 | RYR1 | c.7028-16C>T (n.7028-16C>T) c.7025-16C>T (n.7025-16C>T) c.480-16C>T n.7111-16C>T | gnomAD v4 |
19 | g.38499620C>A | CA2584900024 | RYR1 | c.7028-15C>A (n.7028-15C>A) c.7025-15C>A (n.7025-15C>A) c.480-15C>A n.7111-15C>A | gnomAD v4 |
19 | g.38499620C= | CA2335052832 | RYR1 | c.7028-15C= (n.7028-15C=) c.7025-15C= (n.7025-15C=) c.480-15C= n.7111-15C= | |
19 | g.38499620C>G | CA308107728 | RYR1 | c.7028-15C>G (n.7028-15C>G) c.7025-15C>G (n.7025-15C>G) c.480-15C>G n.7111-15C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499620C>T | CA2576771074 | RYR1 | c.7028-15C>T (n.7028-15C>T) c.7025-15C>T (n.7025-15C>T) c.480-15C>T n.7111-15C>T | gnomAD v4 |
19 | g.38499621A>C | CA2584900025 | RYR1 | c.7028-14A>C (n.7028-14A>C) c.7025-14A>C (n.7025-14A>C) c.480-14A>C n.7111-14A>C | gnomAD v4 |
19 | g.38499621A>T | CA2584900026 | RYR1 | c.7028-14A>T (n.7028-14A>T) c.7025-14A>T (n.7025-14A>T) c.480-14A>T n.7111-14A>T | gnomAD v4 |
19 | g.38499622T>A | CA882060725 | RYR1 | c.7028-13T>A (n.7028-13T>A) c.7025-13T>A (n.7025-13T>A) c.480-13T>A n.7111-13T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499622T>C | CA069025 | RYR1 | c.7028-13T>C (n.7028-13T>C) c.7025-13T>C (n.7025-13T>C) c.480-13T>C n.7111-13T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499622T>G | CA2584900027 | RYR1 | c.7028-13T>G (n.7028-13T>G) c.7025-13T>G (n.7025-13T>G) c.480-13T>G n.7111-13T>G | gnomAD v4 |
19 | g.38499622T= | CA2335052833 | RYR1 | c.7028-13T= (n.7028-13T=) c.7025-13T= (n.7025-13T=) c.480-13T= n.7111-13T= | |
19 | g.38499623G>A | CA2584900028 | RYR1 | c.7028-12G>A (n.7028-12G>A) c.7025-12G>A (n.7025-12G>A) c.480-12G>A n.7111-12G>A | gnomAD v4 |
19 | g.38499623G>C | CA2739276774 | RYR1 | c.7028-12G>C (n.7028-12G>C) c.7025-12G>C (n.7025-12G>C) c.480-12G>C n.7111-12G>C | ClinVar |
19 | g.38499623G>T | CA2584900029 | RYR1 | c.7028-12G>T (n.7028-12G>T) c.7025-12G>T (n.7025-12G>T) c.480-12G>T n.7111-12G>T | gnomAD v4 |
19 | g.38499624C>A | CA069015 | RYR1 | c.7028-11C>A (n.7028-11C>A) c.7025-11C>A (n.7025-11C>A) c.480-11C>A n.7111-11C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499624C= | CA2335052834 | RYR1 | c.7028-11C= (n.7028-11C=) c.7025-11C= (n.7025-11C=) c.480-11C= n.7111-11C= | |
19 | g.38499624C>G | CA069019 | RYR1 | c.7028-11C>G (n.7028-11C>G) c.7025-11C>G (n.7025-11C>G) c.480-11C>G n.7111-11C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499624C>T | CA069021 | RYR1 | c.7028-11C>T (n.7028-11C>T) c.7025-11C>T (n.7025-11C>T) c.480-11C>T n.7111-11C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499625G>A | CA308107735 | RYR1 | c.7028-10G>A (n.7028-10G>A) c.7025-10G>A (n.7025-10G>A) c.480-10G>A n.7111-10G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499625G= | CA2335052835 | RYR1 | c.7028-10G= (n.7028-10G=) c.7025-10G= (n.7025-10G=) c.480-10G= n.7111-10G= | |
19 | g.38499625G>T | CA2584900031 | RYR1 | c.7028-10G>T (n.7028-10G>T) c.7025-10G>T (n.7025-10G>T) c.480-10G>T n.7111-10G>T | gnomAD v4 |
19 | g.38499627del | CA2584900030 | RYR1 | c.7028-8del (n.7028-8del) c.7025-8del (n.7025-8del) c.480-8del n.7111-8del | gnomAD v4 |
19 | g.38499626G>A | CA2576771075 | RYR1 | c.7028-9G>A (n.7028-9G>A) c.7025-9G>A (n.7025-9G>A) c.480-9G>A n.7111-9G>A | |
19 | g.38499626G>T | CA2838206502 | RYR1 | c.7028-9G>T (n.7028-9G>T) c.7025-9G>T (n.7025-9G>T) c.480-9G>T n.7111-9G>T | |
19 | g.38499627G>A | CA082297 | RYR1 | c.7028-8G>A (n.7028-8G>A) c.7025-8G>A (n.7025-8G>A) c.480-8G>A n.7111-8G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499627G= | CA2335052836 | RYR1 | c.7028-8G= (n.7028-8G=) c.7025-8G= (n.7025-8G=) c.480-8G= n.7111-8G= | |
19 | g.38499627G>T | CA2584900032 | RYR1 | c.7028-8G>T (n.7028-8G>T) c.7025-8G>T (n.7025-8G>T) c.480-8G>T n.7111-8G>T | gnomAD v4 |
19 | g.38499628T>C | CA2584900033 | RYR1 | c.7028-7T>C (n.7028-7T>C) c.7025-7T>C (n.7025-7T>C) c.480-7T>C n.7111-7T>C | gnomAD v4 |
19 | g.38499628T>G | CA308107739 | RYR1 | c.7028-7T>G (n.7028-7T>G) c.7025-7T>G (n.7025-7T>G) c.480-7T>G n.7111-7T>G | dbSNP gnomAD v4 |
19 | g.38499628T= | CA2335052837 | RYR1 | c.7028-7T= (n.7028-7T=) c.7025-7T= (n.7025-7T=) c.480-7T= n.7111-7T= | |
19 | g.38499629G>T | CA2576771076 | RYR1 | c.7028-6G>T (n.7028-6G>T) c.7025-6G>T (n.7025-6G>T) c.480-6G>T n.7111-6G>T | gnomAD v4 |
19 | g.38499630dup | CA2584900034 | RYR1 | c.7028-5dup (n.7028-5dup) c.7025-5dup (n.7025-5dup) c.480-5dup n.7111-5dup | gnomAD v4 |
19 | g.38499630G>A | CA082305 | RYR1 | c.7028-5G>A (n.7028-5G>A) c.7025-5G>A (n.7025-5G>A) c.480-5G>A n.7111-5G>A | ClinVar gnomAD v4 |
19 | g.38499630G>T | CA2839745715 | RYR1 | c.7028-5G>T (n.7028-5G>T) c.7025-5G>T (n.7025-5G>T) c.480-5G>T n.7111-5G>T | |
19 | g.38499631C>A | CA2584900035 | RYR1 | c.7028-4C>A (n.7028-4C>A) c.7025-4C>A (n.7025-4C>A) c.480-4C>A n.7111-4C>A | gnomAD v4 |
19 | g.38499631C= | CA2335052838 | RYR1 | c.7028-4C= (n.7028-4C=) c.7025-4C= (n.7025-4C=) c.480-4C= n.7111-4C= | |
19 | g.38499631C>T | CA632874637 | RYR1 | c.7028-4C>T (n.7028-4C>T) c.7025-4C>T (n.7025-4C>T) c.480-4C>T n.7111-4C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499632C= | CA2335052839 | RYR1 | c.7028-3C= (n.7028-3C=) c.7025-3C= (n.7025-3C=) c.480-3C= n.7111-3C= | |
19 | g.38499632C>G | CA2814346128 | RYR1 | c.7028-3C>G (n.7028-3C>G) c.7025-3C>G (n.7025-3C>G) c.480-3C>G n.7111-3C>G | |
19 | g.38499632C>T | CA632874638 | RYR1 | c.7028-3C>T (n.7028-3C>T) c.7025-3C>T (n.7025-3C>T) c.480-3C>T n.7111-3C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499633A>C | CA405667762 | RYR1 | c.7028-2A>C (n.7028-2A>C) c.7025-2A>C (n.7025-2A>C) c.480-2A>C n.7111-2A>C | |
19 | g.38499633A>G | CA405667763 | RYR1 | c.7028-2A>G (n.7028-2A>G) c.7025-2A>G (n.7025-2A>G) c.480-2A>G n.7111-2A>G | |
19 | g.38499633A>T | CA405667764 | RYR1 | c.7028-2A>T (n.7028-2A>T) c.7025-2A>T (n.7025-2A>T) c.480-2A>T n.7111-2A>T | |
19 | g.38499634G>A | CA405667765 | RYR1 | c.7028-1G>A (n.7028-1G>A) c.7025-1G>A (n.7025-1G>A) c.480-1G>A n.7111-1G>A | |
19 | g.38499634G>C | CA405667766 | RYR1 | c.7028-1G>C (n.7028-1G>C) c.7025-1G>C (n.7025-1G>C) c.480-1G>C n.7111-1G>C | |
19 | g.38499634G>T | CA405667767 | RYR1 | c.7028-1G>T (n.7028-1G>T) c.7025-1G>T (n.7025-1G>T) c.480-1G>T n.7111-1G>T | gnomAD v4 |
19 | g.38499635G>A | CA405667768 | RYR1 | c.7028G>A (p.Gly2343Asp) c.7025G>A (p.Gly2342Asp) c.480G>A n.7111G>A | |
19 | g.38499635G>C | CA405667769 | RYR1 | c.7028G>C (p.Gly2343Ala) c.7025G>C (p.Gly2342Ala) c.480G>C n.7111G>C | |
19 | g.38499635G>T | CA405667770 | RYR1 | c.7028G>T (p.Gly2343Val) c.7025G>T (p.Gly2342Val) c.480G>T n.7111G>T | gnomAD v4 |
19 | g.38499636C>A | CA507353763 | RYR1 | c.7029C>A (p.Gly2343=) c.7026C>A (p.Gly2342=) c.481C>A n.7112C>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499636C= | CA2335052840 | RYR1 | c.7029C= (p.Gly2343=) c.7026C= (p.Gly2342=) c.481C= n.7112C= | |
19 | g.38499636C>G | CA507353764 | RYR1 | c.7029C>G (p.Gly2343=) c.7026C>G (p.Gly2342=) c.481C>G n.7112C>G | |
19 | g.38499636C>T | CA069044 | RYR1 | c.7029C>T (p.Gly2343=) c.7026C>T (p.Gly2342=) c.481C>T n.7112C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499637G>A | CA082296 | RYR1 | c.7030G>A (p.Glu2344Lys) c.7027G>A (p.Glu2343Lys) c.482G>A n.7113G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499637G>C | CA405667772 | RYR1 | c.7030G>C (p.Glu2344Gln) c.7027G>C (p.Glu2343Gln) c.482G>C n.7113G>C | |
19 | g.38499637G= | CA2335052841 | RYR1 | c.7030G= (p.Glu2344=) c.7027G= (p.Glu2343=) c.482G= n.7113G= | |
19 | g.38499637G>T | CA405667771 | RYR1 | c.7030G>T (p.Glu2344Ter) c.7027G>T (p.Glu2343Ter) c.482G>T n.7113G>T | gnomAD v4 |
19 | g.38499637_38499639dup | CA2814346132 | RYR1 | c.7030_7032dup (p.Glu2344_Ser2345insGlu) c.7027_7029dup (p.Glu2343_Ser2344insGlu) c.482_484dup n.7113_7115dup | |
19 | g.38499638A>C | CA405667773 | RYR1 | c.7031A>C (p.Glu2344Ala) c.7028A>C (p.Glu2343Ala) c.483A>C n.7114A>C | |
19 | g.38499638A>G | CA405667774 | RYR1 | c.7031A>G (p.Glu2344Gly) c.7028A>G (p.Glu2343Gly) c.483A>G n.7114A>G | |
19 | g.38499638A>T | CA405667775 | RYR1 | c.7031A>T (p.Glu2344Val) c.7028A>T (p.Glu2343Val) c.483A>T n.7114A>T | |
19 | g.38499639G>A | CA507353771 | RYR1 | c.7032G>A (p.Glu2344=) c.7029G>A (p.Glu2343=) c.484G>A n.7115G>A | |
19 | g.38499639G>C | CA024673 | RYR1 | c.7032G>C (p.Glu2344Asp) c.7029G>C (p.Glu2343Asp) c.484G>C n.7115G>C | ClinVar dbSNP |
19 | g.38499639G= | CA2335052842 | RYR1 | c.7032G= (p.Glu2344=) c.7029G= (p.Glu2343=) c.484G= n.7115G= | |
19 | g.38499639G>T | CA405667776 | RYR1 | c.7032G>T (p.Glu2344Asp) c.7029G>T (p.Glu2343Asp) c.484G>T n.7115G>T | gnomAD v4 |
19 | g.38499640A= | CA2335052843 | RYR1 | c.7033A= (p.Ser2345=) c.7030A= (p.Ser2344=) c.485A= n.7116A= | |
19 | g.38499640A>C | CA405667777 | RYR1 | c.7033A>C (p.Ser2345Arg) c.7030A>C (p.Ser2344Arg) c.485A>C n.7116A>C | COSMIC |
19 | g.38499640A>G | CA405667778 | RYR1 | c.7033A>G (p.Ser2345Gly) c.7030A>G (p.Ser2344Gly) c.485A>G n.7116A>G | gnomAD v4 |
19 | g.38499640A>T | CA069047 | RYR1 | c.7033A>T (p.Ser2345Cys) c.7030A>T (p.Ser2344Cys) c.485A>T n.7116A>T | dbSNP ExAC gnomAD v4 |
19 | g.38499641G>A | CA069051 | RYR1 | c.7034G>A (p.Ser2345Asn) c.7031G>A (p.Ser2344Asn) c.486G>A n.7117G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.38499641G>C | CA405667779 | RYR1 | c.7034G>C (p.Ser2345Thr) c.7031G>C (p.Ser2344Thr) c.486G>C n.7117G>C | ClinVar |
19 | g.38499641G= | CA2335052844 | RYR1 | c.7034G= (p.Ser2345=) c.7031G= (p.Ser2344=) c.486G= n.7117G= | |
19 | g.38499641G>T | CA405667780 | RYR1 | c.7034G>T (p.Ser2345Ile) c.7031G>T (p.Ser2344Ile) c.486G>T n.7117G>T | |
19 | g.38499642C>A | CA405667782 | RYR1 | c.7035C>A (p.Ser2345Arg) c.7032C>A (p.Ser2344Arg) c.487C>A n.7118C>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499642C= | CA2335052845 | RYR1 | c.7035C= (p.Ser2345=) c.7032C= (p.Ser2344=) c.487C= n.7118C= | |
19 | g.38499642C>G | CA405667781 | RYR1 | c.7035C>G (p.Ser2345Arg) c.7032C>G (p.Ser2344Arg) c.487C>G n.7118C>G | ClinVar dbSNP |
19 | g.38499642C>T | CA507353778 | RYR1 | c.7035C>T (p.Ser2345=) c.7032C>T (p.Ser2344=) c.487C>T n.7118C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499643G>A | CA024676 | RYR1 | c.7036G>A (p.Val2346Met) c.7033G>A (p.Val2345Met) c.488G>A n.7119G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499643G>C | CA405667783 | RYR1 | c.7036G>C (p.Val2346Leu) c.7033G>C (p.Val2345Leu) c.488G>C n.7119G>C | |
19 | g.38499643G= | CA2335052846 | RYR1 | c.7036G= (p.Val2346=) c.7033G= (p.Val2345=) c.488G= n.7119G= | |
19 | g.38499643G>T | CA405667784 | RYR1 | c.7036G>T (p.Val2346Leu) c.7033G>T (p.Val2345Leu) c.488G>T n.7119G>T | |
19 | g.38499644T>A | CA405667785 | RYR1 | c.7037T>A (p.Val2346Glu) c.7034T>A (p.Val2345Glu) c.489T>A n.7120T>A | |
19 | g.38499644T>C | CA405667786 | RYR1 | c.7037T>C (p.Val2346Ala) c.7034T>C (p.Val2345Ala) c.489T>C n.7120T>C | |
19 | g.38499644T>G | CA405667787 | RYR1 | c.7037T>G (p.Val2346Gly) c.7034T>G (p.Val2345Gly) c.489T>G n.7120T>G | |
19 | g.38499644_38499647delinsTGGA | CA2335052847 | RYR1 | c.7037_7040delinsTGGA (p.Val2346=) c.7034_7037delinsTGGA (p.Val2345=) c.489_492delinsTGGA n.7120_7123delinsTGGA | |
19 | g.38499645G>A | CA082294 | RYR1 | c.7038G>A (p.Val2346=) c.7035G>A (p.Val2345=) c.490G>A n.7121G>A | gnomAD v4 |
19 | g.38499645G>C | CA507353787 | RYR1 | c.7038G>C (p.Val2346=) c.7035G>C (p.Val2345=) c.490G>C n.7121G>C | |
19 | g.38499645G>T | CA507353788 | RYR1 | c.7038G>T (p.Val2346=) c.7035G>T (p.Val2345=) c.490G>T n.7121G>T | gnomAD v4 |
19 | g.38499649_38499651del | CA024679 | RYR1 | c.7042_7044del (p.Glu2348del) c.7039_7041del (p.Glu2347del) c.494_496del n.7125_7127del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499646G>A | CA069061 | RYR1 | c.7039G>A (p.Glu2347Lys) c.7036G>A (p.Glu2346Lys) c.491G>A n.7122G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499646G>C | CA405667788 | RYR1 | c.7039G>C (p.Glu2347Gln) c.7036G>C (p.Glu2346Gln) c.491G>C n.7122G>C | |
19 | g.38499646G= | CA2335052848 | RYR1 | c.7039G= (p.Glu2347=) c.7036G= (p.Glu2346=) c.491G= n.7122G= | |
19 | g.38499646G>T | CA082295 | RYR1 | c.7039G>T (p.Glu2347Ter) c.7036G>T (p.Glu2346Ter) c.491G>T n.7122G>T | gnomAD v4 |
19 | g.38499647A= | CA2335052849 | RYR1 | c.7040A= (p.Glu2347=) c.7037A= (p.Glu2346=) c.492A= n.7123A= | |
19 | g.38499647A>C | CA069066 | RYR1 | c.7040A>C (p.Glu2347Ala) c.7037A>C (p.Glu2346Ala) c.492A>C n.7123A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499647A>G | CA405667789 | RYR1 | c.7040A>G (p.Glu2347Gly) c.7037A>G (p.Glu2346Gly) c.492A>G n.7123A>G | |
19 | g.38499647A>T | CA405667790 | RYR1 | c.7040A>T (p.Glu2347Val) c.7037A>T (p.Glu2346Val) c.492A>T n.7123A>T | |
19 | g.38499648G>A | CA507353795 | RYR1 | c.7041G>A (p.Glu2347=) c.7038G>A (p.Glu2346=) c.493G>A n.7124G>A | |
19 | g.38499648G>C | CA405667791 | RYR1 | c.7041G>C (p.Glu2347Asp) c.7038G>C (p.Glu2346Asp) c.493G>C n.7124G>C | |
19 | g.38499648G>T | CA405667792 | RYR1 | c.7041G>T (p.Glu2347Asp) c.7038G>T (p.Glu2346Asp) c.493G>T n.7124G>T | gnomAD v4 |
19 | g.38499649G>A | CA082310 | RYR1 | c.7042G>A (p.Glu2348Lys) c.7039G>A (p.Glu2347Lys) c.494G>A n.7125G>A | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.38499649G>C | CA405667794 | RYR1 | c.7042G>C (p.Glu2348Gln) c.7039G>C (p.Glu2347Gln) c.494G>C n.7125G>C | |
19 | g.38499649G= | CA2335052850 | RYR1 | c.7042G= (p.Glu2348=) c.7039G= (p.Glu2347=) c.494G= n.7125G= | |
19 | g.38499649G>T | CA405667793 | RYR1 | c.7042G>T (p.Glu2348Ter) c.7039G>T (p.Glu2347Ter) c.494G>T n.7125G>T | gnomAD v4 |
19 | g.38499650A= | CA2335052851 | RYR1 | c.7043A= (p.Glu2348=) c.7040A= (p.Glu2347=) c.495A= n.7126A= | |
19 | g.38499650A>C | CA082311 | RYR1 | c.7043A>C (p.Glu2348Ala) c.7040A>C (p.Glu2347Ala) c.495A>C n.7126A>C | |
19 | g.38499650A>G | CA024686 | RYR1 | c.7043A>G (p.Glu2348Gly) c.7040A>G (p.Glu2347Gly) c.495A>G n.7126A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499650A>T | CA405667795 | RYR1 | c.7043A>T (p.Glu2348Val) c.7040A>T (p.Glu2347Val) c.495A>T n.7126A>T | |
19 | g.38499651G>A | CA507353799 | RYR1 | c.7044G>A (p.Glu2348=) c.7041G>A (p.Glu2347=) c.496G>A n.7127G>A | gnomAD v4 |
19 | g.38499651G>C | CA405667796 | RYR1 | c.7044G>C (p.Glu2348Asp) c.7041G>C (p.Glu2347Asp) c.496G>C n.7127G>C | |
19 | g.38499651G= | CA2335052852 | RYR1 | c.7044G= (p.Glu2348=) c.7041G= (p.Glu2347=) c.496G= n.7127G= | |
19 | g.38499651G>T | CA405667797 | RYR1 | c.7044G>T (p.Glu2348Asp) c.7041G>T (p.Glu2347Asp) c.496G>T n.7127G>T | dbSNP gnomAD v4 |
19 | g.38499652A= | CA2335052853 | RYR1 | c.7045A= (p.Asn2349=) c.7042A= (p.Asn2348=) c.497A= n.7128A= | |
19 | g.38499652A>C | CA405667799 | RYR1 | c.7045A>C (p.Asn2349His) c.7042A>C (p.Asn2348His) c.497A>C n.7128A>C | dbSNP |
19 | g.38499652A>G | CA405667801 | RYR1 | c.7045A>G (p.Asn2349Asp) c.7042A>G (p.Asn2348Asp) c.497A>G n.7128A>G | COSMIC |
19 | g.38499652A>T | CA069069 | RYR1 | c.7045A>T (p.Asn2349Tyr) c.7042A>T (p.Asn2348Tyr) c.497A>T n.7128A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499653A>C | CA405667805 | RYR1 | c.7046A>C (p.Asn2349Thr) c.7043A>C (p.Asn2348Thr) c.498A>C n.7129A>C | |
19 | g.38499653A>G | CA405667807 | RYR1 | c.7046A>G (p.Asn2349Ser) c.7043A>G (p.Asn2348Ser) c.498A>G n.7129A>G | |
19 | g.38499653A>T | CA405667809 | RYR1 | c.7046A>T (p.Asn2349Ile) c.7043A>T (p.Asn2348Ile) c.498A>T n.7129A>T | |
19 | g.38499654C>A | CA405667813 | RYR1 | c.7047C>A (p.Asn2349Lys) c.7044C>A (p.Asn2348Lys) c.499C>A n.7130C>A | |
19 | g.38499654C= | CA2335052854 | RYR1 | c.7047C= (p.Asn2349=) c.7044C= (p.Asn2348=) c.499C= n.7130C= | |
19 | g.38499654C>G | CA405667815 | RYR1 | c.7047C>G (p.Asn2349Lys) c.7044C>G (p.Asn2348Lys) c.499C>G n.7130C>G | |
19 | g.38499654C>T | CA069073 | RYR1 | c.7047C>T (p.Asn2349=) c.7044C>T (p.Asn2348=) c.499C>T n.7130C>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.38499655G>A | CA024690 | RYR1 | c.7048G>A (p.Ala2350Thr) c.7045G>A (p.Ala2349Thr) c.500G>A n.7131G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499655G>C | CA405667817 | RYR1 | c.7048G>C (p.Ala2350Pro) c.7045G>C (p.Ala2349Pro) c.500G>C n.7131G>C | |
19 | g.38499655G= | CA2335052855 | RYR1 | c.7048G= (p.Ala2350=) c.7045G= (p.Ala2349=) c.500G= n.7131G= | |
19 | g.38499655G>T | CA405667818 | RYR1 | c.7048G>T (p.Ala2350Ser) c.7045G>T (p.Ala2349Ser) c.500G>T n.7131G>T | gnomAD v4 |
19 | g.38499656C>A | CA405667822 | RYR1 | c.7049C>A (p.Ala2350Asp) c.7046C>A (p.Ala2349Asp) c.501C>A n.7132C>A | |
19 | g.38499656C>G | CA405667825 | RYR1 | c.7049C>G (p.Ala2350Gly) c.7046C>G (p.Ala2349Gly) c.501C>G n.7132C>G | COSMIC |
19 | g.38499656C>T | CA405667826 | RYR1 | c.7049C>T (p.Ala2350Val) c.7046C>T (p.Ala2349Val) c.501C>T n.7132C>T | gnomAD v4 |
19 | g.38499657C>A | CA507353813 | RYR1 | c.7050C>A (p.Ala2350=) c.7047C>A (p.Ala2349=) c.502C>A n.7133C>A | |
19 | g.38499657C>G | CA507353814 | RYR1 | c.7050C>G (p.Ala2350=) c.7047C>G (p.Ala2349=) c.502C>G n.7133C>G | |
19 | g.38499657C>T | CA082313 | RYR1 | c.7050C>T (p.Ala2350=) c.7047C>T (p.Ala2349=) c.502C>T n.7133C>T | gnomAD v4 |
19 | g.38499658A= | CA2335052856 | RYR1 | c.7051A= (p.Asn2351=) c.7048A= (p.Asn2350=) c.503A= n.7134A= | |
19 | g.38499658A>C | CA069074 | RYR1 | c.7051A>C (p.Asn2351His) c.7048A>C (p.Asn2350His) c.503A>C n.7134A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499658A>G | CA405667830 | RYR1 | c.7051A>G (p.Asn2351Asp) c.7048A>G (p.Asn2350Asp) c.503A>G n.7134A>G | dbSNP gnomAD v4 |
19 | g.38499658A>T | CA405667829 | RYR1 | c.7051A>T (p.Asn2351Tyr) c.7048A>T (p.Asn2350Tyr) c.503A>T n.7134A>T | |
19 | g.38499659A= | CA2335052857 | RYR1 | c.7052A= (p.Asn2351=) c.7049A= (p.Asn2350=) c.504A= n.7135A= | |
19 | g.38499659A>C | CA405667831 | RYR1 | c.7052A>C (p.Asn2351Thr) c.7049A>C (p.Asn2350Thr) c.504A>C n.7135A>C | |
19 | g.38499659A>G | CA069078 | RYR1 | c.7052A>G (p.Asn2351Ser) c.7049A>G (p.Asn2350Ser) c.504A>G n.7135A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499659A>T | CA405667832 | RYR1 | c.7052A>T (p.Asn2351Ile) c.7049A>T (p.Asn2350Ile) c.504A>T n.7135A>T | |
19 | g.38499660T>A | CA405667833 | RYR1 | c.7053T>A (p.Asn2351Lys) c.7050T>A (p.Asn2350Lys) c.505T>A n.7136T>A | |
19 | g.38499660T>C | CA069079 | RYR1 | c.7053T>C (p.Asn2351=) c.7050T>C (p.Asn2350=) c.505T>C n.7136T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499660T>G | CA405667836 | RYR1 | c.7053T>G (p.Asn2351Lys) c.7050T>G (p.Asn2350Lys) c.505T>G n.7136T>G | |
19 | g.38499660T= | CA2335052858 | RYR1 | c.7053T= (p.Asn2351=) c.7050T= (p.Asn2350=) c.505T= n.7136T= | |
19 | g.38499661G>A | CA405667843 | RYR1 | c.7054G>A (p.Val2352Met) c.7051G>A (p.Val2351Met) c.506G>A n.7137G>A | gnomAD v4 |
19 | g.38499661G>C | CA405667839 | RYR1 | c.7054G>C (p.Val2352Leu) c.7051G>C (p.Val2351Leu) c.506G>C n.7137G>C | |
19 | g.38499661G= | CA2335052859 | RYR1 | c.7054G= (p.Val2352=) c.7051G= (p.Val2351=) c.506G= n.7137G= | |
19 | g.38499661G>T | CA405667841 | RYR1 | c.7054G>T (p.Val2352Leu) c.7051G>T (p.Val2351Leu) c.506G>T n.7137G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38499667_38499669del | CA2695228665 | RYR1 | c.7060_7062del (p.Val2354del) c.7057_7059del (p.Val2353del) c.512_514del n.7143_7145del | |
19 | g.38499662T>A | CA405667845 | RYR1 | c.7055T>A (p.Val2352Glu) c.7052T>A (p.Val2351Glu) c.507T>A n.7138T>A | gnomAD v4 |
19 | g.38499662T>C | CA405667848 | RYR1 | c.7055T>C (p.Val2352Ala) c.7052T>C (p.Val2351Ala) c.507T>C n.7138T>C | |
19 | g.38499662T>G | CA405667850 | RYR1 | c.7055T>G (p.Val2352Gly) c.7052T>G (p.Val2351Gly) c.507T>G n.7138T>G | |
19 | g.38499663G>A | CA507353818 | RYR1 | c.7056G>A (p.Val2352=) c.7053G>A (p.Val2351=) c.508G>A n.7139G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499663G>C | CA507353820 | RYR1 | c.7056G>C (p.Val2352=) c.7053G>C (p.Val2351=) c.508G>C n.7139G>C | |
19 | g.38499663G= | CA2335052860 | RYR1 | c.7056G= (p.Val2352=) c.7053G= (p.Val2351=) c.508G= n.7139G= | |
19 | g.38499663G>T | CA507353821 | RYR1 | c.7056G>T (p.Val2352=) c.7053G>T (p.Val2351=) c.508G>T n.7139G>T | gnomAD v4 |
19 | g.38499663_38499664insTA | CA082287 | RYR1 | c.7056_7057insTA (p.Val2353Ter) c.7053_7054insTA (p.Val2352Ter) c.508_509insTA n.7139_7140insTA | |
19 | g.38499664G>A | CA069083 | RYR1 | c.7057G>A (p.Val2353Met) c.7054G>A (p.Val2352Met) c.509G>A n.7140G>A | dbSNP ExAC gnomAD v2 |
19 | g.38499664G>C | CA405667854 | RYR1 | c.7057G>C (p.Val2353Leu) c.7054G>C (p.Val2352Leu) c.509G>C n.7140G>C | |
19 | g.38499664G= | CA2335052861 | RYR1 | c.7057G= (p.Val2353=) c.7054G= (p.Val2352=) c.509G= n.7140G= | |
19 | g.38499664G>T | CA405667856 | RYR1 | c.7057G>T (p.Val2353Leu) c.7054G>T (p.Val2352Leu) c.509G>T n.7140G>T | gnomAD v4 |
19 | g.38499665T>A | CA405667858 | RYR1 | c.7058T>A (p.Val2353Glu) c.7055T>A (p.Val2352Glu) c.510T>A n.7141T>A | |
19 | g.38499665T>C | CA405667859 | RYR1 | c.7058T>C (p.Val2353Ala) c.7055T>C (p.Val2352Ala) c.510T>C n.7141T>C | dbSNP gnomAD v4 |
19 | g.38499665T>G | CA405667862 | RYR1 | c.7058T>G (p.Val2353Gly) c.7055T>G (p.Val2352Gly) c.510T>G n.7141T>G | |
19 | g.38499666G>A | CA507353825 | RYR1 | c.7059G>A (p.Val2353=) c.7056G>A (p.Val2352=) c.511G>A n.7142G>A | gnomAD v4 |
19 | g.38499666G>C | CA507353826 | RYR1 | c.7059G>C (p.Val2353=) c.7056G>C (p.Val2352=) c.511G>C n.7142G>C | |
19 | g.38499666G= | CA2335052862 | RYR1 | c.7059G= (p.Val2353=) c.7056G= (p.Val2352=) c.511G= n.7142G= | |
19 | g.38499666G>T | CA069089 | RYR1 | c.7059G>T (p.Val2353=) c.7056G>T (p.Val2352=) c.511G>T n.7142G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499667G>A | CA082317 | RYR1 | c.7060G>A (p.Val2354Met) c.7057G>A (p.Val2353Met) c.512G>A n.7143G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499667G>C | CA405667878 | RYR1 | c.7060G>C (p.Val2354Leu) c.7057G>C (p.Val2353Leu) c.512G>C n.7143G>C | gnomAD v4 |
19 | g.38499667G= | CA2335052863 | RYR1 | c.7060G= (p.Val2354=) c.7057G= (p.Val2353=) c.512G= n.7143G= | |
19 | g.38499667G>T | CA069094 | RYR1 | c.7060G>T (p.Val2354Leu) c.7057G>T (p.Val2353Leu) c.512G>T n.7143G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499668T>A | CA405667886 | RYR1 | c.7061T>A (p.Val2354Glu) c.7058T>A (p.Val2353Glu) c.513T>A n.7144T>A | |
19 | g.38499668T>C | CA405667882 | RYR1 | c.7061T>C (p.Val2354Ala) c.7058T>C (p.Val2353Ala) c.513T>C n.7144T>C | |
19 | g.38499668T>G | CA405667884 | RYR1 | c.7061T>G (p.Val2354Gly) c.7058T>G (p.Val2353Gly) c.513T>G n.7144T>G | |
19 | g.38499669G>A | CA507353827 | RYR1 | c.7062G>A (p.Val2354=) c.7059G>A (p.Val2353=) c.514G>A n.7145G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499669G>C | CA507353828 | RYR1 | c.7062G>C (p.Val2354=) c.7059G>C (p.Val2353=) c.514G>C n.7145G>C | |
19 | g.38499669G= | CA2335052864 | RYR1 | c.7062G= (p.Val2354=) c.7059G= (p.Val2353=) c.514G= n.7145G= | |
19 | g.38499669G>T | CA082318 | RYR1 | c.7062G>T (p.Val2354=) c.7059G>T (p.Val2353=) c.514G>T n.7145G>T | gnomAD v4 |