Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.21562616G>A | CA686414366 | GYS2 | c.1062+302C>T (n.1062+302C>T) c.*1064+302C>T (n.*1064+302C>T) n.989+302C>T c.843+302C>T (n.843+302C>T) c.831+302C>T (n.831+302C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562616G= | CA2021178485 | GYS2 | c.1062+302C= (n.1062+302C=) c.*1064+302C= (n.*1064+302C=) n.989+302C= c.843+302C= (n.843+302C=) c.831+302C= (n.831+302C=) | |
12 | g.21562617T>C | CA233606788 | GYS2 | c.1062+301A>G (n.1062+301A>G) c.*1064+301A>G (n.*1064+301A>G) n.989+301A>G c.843+301A>G (n.843+301A>G) c.831+301A>G (n.831+301A>G) | dbSNP |
12 | g.21562617T= | CA2021178486 | GYS2 | c.1062+301A= (n.1062+301A=) c.*1064+301A= (n.*1064+301A=) n.989+301A= c.843+301A= (n.843+301A=) c.831+301A= (n.831+301A=) | |
12 | g.21562618T>C | CA233606794 | GYS2 | c.1062+300A>G (n.1062+300A>G) c.*1064+300A>G (n.*1064+300A>G) n.989+300A>G c.843+300A>G (n.843+300A>G) c.831+300A>G (n.831+300A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562618T= | CA2021178487 | GYS2 | c.1062+300A= (n.1062+300A=) c.*1064+300A= (n.*1064+300A=) n.989+300A= c.843+300A= (n.843+300A=) c.831+300A= (n.831+300A=) | |
12 | g.21562620T>C | CA2021178489 | GYS2 | c.1062+298A>G (n.1062+298A>G) c.*1064+298A>G (n.*1064+298A>G) n.989+298A>G c.843+298A>G (n.843+298A>G) c.831+298A>G (n.831+298A>G) | dbSNP |
12 | g.21562620T= | CA2021178488 | GYS2 | c.1062+298A= (n.1062+298A=) c.*1064+298A= (n.*1064+298A=) n.989+298A= c.843+298A= (n.843+298A=) c.831+298A= (n.831+298A=) | |
12 | g.21562628T>C | CA2794810006 | GYS2 | c.1062+290A>G (n.1062+290A>G) c.*1064+290A>G (n.*1064+290A>G) n.989+290A>G c.843+290A>G (n.843+290A>G) c.831+290A>G (n.831+290A>G) | |
12 | g.21562630T>C | CA2021178491 | GYS2 | c.1062+288A>G (n.1062+288A>G) c.*1064+288A>G (n.*1064+288A>G) n.989+288A>G c.843+288A>G (n.843+288A>G) c.831+288A>G (n.831+288A>G) | dbSNP |
12 | g.21562630T= | CA2021178490 | GYS2 | c.1062+288A= (n.1062+288A=) c.*1064+288A= (n.*1064+288A=) n.989+288A= c.843+288A= (n.843+288A=) c.831+288A= (n.831+288A=) | |
12 | g.21562631T>A | CA945499689 | GYS2 | c.1062+287A>T (n.1062+287A>T) c.*1064+287A>T (n.*1064+287A>T) n.989+287A>T c.843+287A>T (n.843+287A>T) c.831+287A>T (n.831+287A>T) | gnomAD v3 gnomAD v4 |
12 | g.21562635A= | CA2021178492 | GYS2 | c.1062+283T= (n.1062+283T=) c.*1064+283T= (n.*1064+283T=) n.989+283T= c.843+283T= (n.843+283T=) c.831+283T= (n.831+283T=) | |
12 | g.21562635A>G | CA233606798 | GYS2 | c.1062+283T>C (n.1062+283T>C) c.*1064+283T>C (n.*1064+283T>C) n.989+283T>C c.843+283T>C (n.843+283T>C) c.831+283T>C (n.831+283T>C) | dbSNP |
12 | g.21562636C>A | CA945499693 | GYS2 | c.1062+282G>T (n.1062+282G>T) c.*1064+282G>T (n.*1064+282G>T) n.989+282G>T c.843+282G>T (n.843+282G>T) c.831+282G>T (n.831+282G>T) | gnomAD v3 gnomAD v4 |
12 | g.21562637A= | CA2021178493 | GYS2 | c.1062+281T= (n.1062+281T=) c.*1064+281T= (n.*1064+281T=) n.989+281T= c.843+281T= (n.843+281T=) c.831+281T= (n.831+281T=) | |
12 | g.21562637A>G | CA2021178494 | GYS2 | c.1062+281T>C (n.1062+281T>C) c.*1064+281T>C (n.*1064+281T>C) n.989+281T>C c.843+281T>C (n.843+281T>C) c.831+281T>C (n.831+281T>C) | dbSNP |
12 | g.21562638T>A | CA945499696 | GYS2 | c.1062+280A>T (n.1062+280A>T) c.*1064+280A>T (n.*1064+280A>T) n.989+280A>T c.843+280A>T (n.843+280A>T) c.831+280A>T (n.831+280A>T) | gnomAD v3 gnomAD v4 |
12 | g.21562638T>C | CA686414372 | GYS2 | c.1062+280A>G (n.1062+280A>G) c.*1064+280A>G (n.*1064+280A>G) n.989+280A>G c.843+280A>G (n.843+280A>G) c.831+280A>G (n.831+280A>G) | dbSNP |
12 | g.21562638T= | CA2021178496 | GYS2 | c.1062+280A= (n.1062+280A=) c.*1064+280A= (n.*1064+280A=) n.989+280A= c.843+280A= (n.843+280A=) c.831+280A= (n.831+280A=) | |
12 | g.21562638_21562641delinsTAGA | CA2021178497 | GYS2 | c.1062+277_1062+280delinsTCTA (n.1062+277_1062+280delinsTCTA) c.*1064+277_*1064+280delinsTCTA (n.*1064+277_*1064+280delinsTCTA) n.989+277_989+280delinsTCTA c.843+277_843+280delinsTCTA (n.843+277_843+280delinsTCTA) c.831+277_831+280delinsTCTA (n.831+277_831+280delinsTCTA) | |
12 | g.21562638_21562646delinsTAGAAGGGG | CA2021178495 | GYS2 | c.1062+272_1062+280delinsCCCCTTCTA (n.1062+272_1062+280delinsCCCCTTCTA) c.*1064+272_*1064+280delinsCCCCTTCTA (n.*1064+272_*1064+280delinsCCCCTTCTA) n.989+272_989+280delinsCCCCTTCTA c.843+272_843+280delinsCCCCTTCTA (n.843+272_843+280delinsCCCCTTCTA) c.831+272_831+280delinsCCCCTTCTA (n.831+272_831+280delinsCCCCTTCTA) | |
12 | g.21562639A= | CA2021178498 | GYS2 | c.1062+279T= (n.1062+279T=) c.*1064+279T= (n.*1064+279T=) n.989+279T= c.843+279T= (n.843+279T=) c.831+279T= (n.831+279T=) | |
12 | g.21562639A>G | CA233606809 | GYS2 | c.1062+279T>C (n.1062+279T>C) c.*1064+279T>C (n.*1064+279T>C) n.989+279T>C c.843+279T>C (n.843+279T>C) c.831+279T>C (n.831+279T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562641_21562643del | CA233606802 | GYS2 | c.1062+277_1062+279del (n.1062+277_1062+279del) c.*1064+277_*1064+279del (n.*1064+277_*1064+279del) n.989+277_989+279del c.843+277_843+279del (n.843+277_843+279del) c.831+277_831+279del (n.831+277_831+279del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562643_21562650del | CA233606821 | GYS2 | c.1062+272_1062+279del (n.1062+272_1062+279del) c.*1064+272_*1064+279del (n.*1064+272_*1064+279del) n.989+272_989+279del c.843+272_843+279del (n.843+272_843+279del) c.831+272_831+279del (n.831+272_831+279del) | dbSNP |
12 | g.21562640G>T | CA2794810007 | GYS2 | c.1062+278C>A (n.1062+278C>A) c.*1064+278C>A (n.*1064+278C>A) n.989+278C>A c.843+278C>A (n.843+278C>A) c.831+278C>A (n.831+278C>A) | |
12 | g.21562640_21562641delinsGA | CA2021178499 | GYS2 | c.1062+277_1062+278delinsTC (n.1062+277_1062+278delinsTC) c.*1064+277_*1064+278delinsTC (n.*1064+277_*1064+278delinsTC) n.989+277_989+278delinsTC c.843+277_843+278delinsTC (n.843+277_843+278delinsTC) c.831+277_831+278delinsTC (n.831+277_831+278delinsTC) | |
12 | g.21562642del | CA919039880 | GYS2 | c.1062+277del (n.1062+277del) c.*1064+277del (n.*1064+277del) n.989+277del c.843+277del (n.843+277del) c.831+277del (n.831+277del) | dbSNP |
12 | g.21562642A= | CA2021178501 | GYS2 | c.1062+276T= (n.1062+276T=) c.*1064+276T= (n.*1064+276T=) n.989+276T= c.843+276T= (n.843+276T=) c.831+276T= (n.831+276T=) | |
12 | g.21562642A>C | CA2021178502 | GYS2 | c.1062+276T>G (n.1062+276T>G) c.*1064+276T>G (n.*1064+276T>G) n.989+276T>G c.843+276T>G (n.843+276T>G) c.831+276T>G (n.831+276T>G) | dbSNP |
12 | g.21562642_21562645delinsAGGG | CA2021178503 | GYS2 | c.1062+273_1062+276delinsCCCT (n.1062+273_1062+276delinsCCCT) c.*1064+273_*1064+276delinsCCCT (n.*1064+273_*1064+276delinsCCCT) n.989+273_989+276delinsCCCT c.843+273_843+276delinsCCCT (n.843+273_843+276delinsCCCT) c.831+273_831+276delinsCCCT (n.831+273_831+276delinsCCCT) | |
12 | g.21562642_21562651delinsAGGGGAGAAT | CA2021178500 | GYS2 | c.1062+267_1062+276delinsATTCTCCCCT (n.1062+267_1062+276delinsATTCTCCCCT) c.*1064+267_*1064+276delinsATTCTCCCCT (n.*1064+267_*1064+276delinsATTCTCCCCT) n.989+267_989+276delinsATTCTCCCCT c.843+267_843+276delinsATTCTCCCCT (n.843+267_843+276delinsATTCTCCCCT) c.831+267_831+276delinsATTCTCCCCT (n.831+267_831+276delinsATTCTCCCCT) | |
12 | g.21562646del | CA945499701 | GYS2 | c.1062+275del (n.1062+275del) c.*1064+275del (n.*1064+275del) n.989+275del c.843+275del (n.843+275del) c.831+275del (n.831+275del) | gnomAD v3 gnomAD v4 |
12 | g.21562644_21562646del | CA945499702 | GYS2 | c.1062+273_1062+275del (n.1062+273_1062+275del) c.*1064+273_*1064+275del (n.*1064+273_*1064+275del) n.989+273_989+275del c.843+273_843+275del (n.843+273_843+275del) c.831+273_831+275del (n.831+273_831+275del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562643_21562651delinsGGGGAGAAT | CA2021178504 | GYS2 | c.1062+267_1062+275delinsATTCTCCCC (n.1062+267_1062+275delinsATTCTCCCC) c.*1064+267_*1064+275delinsATTCTCCCC (n.*1064+267_*1064+275delinsATTCTCCCC) n.989+267_989+275delinsATTCTCCCC c.843+267_843+275delinsATTCTCCCC (n.843+267_843+275delinsATTCTCCCC) c.831+267_831+275delinsATTCTCCCC (n.831+267_831+275delinsATTCTCCCC) | |
12 | g.21562646_21562654del | CA233606826 | GYS2 | c.1062+267_1062+275del (n.1062+267_1062+275del) c.*1064+267_*1064+275del (n.*1064+267_*1064+275del) n.989+267_989+275del c.843+267_843+275del (n.843+267_843+275del) c.831+267_831+275del (n.831+267_831+275del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562648_21562655dup | CA233606843 | GYS2 | c.1062+267_1062+274dup (n.1062+267_1062+274dup) c.*1064+267_*1064+274dup (n.*1064+267_*1064+274dup) n.989+267_989+274dup c.843+267_843+274dup (n.843+267_843+274dup) c.831+267_831+274dup (n.831+267_831+274dup) | dbSNP |
12 | g.21562648_21562655del | CA233606844 | GYS2 | c.1062+267_1062+274del (n.1062+267_1062+274del) c.*1064+267_*1064+274del (n.*1064+267_*1064+274del) n.989+267_989+274del c.843+267_843+274del (n.843+267_843+274del) c.831+267_831+274del (n.831+267_831+274del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562645_21562650del | CA945499704 | GYS2 | c.1062+268_1062+273del (n.1062+268_1062+273del) c.*1064+268_*1064+273del (n.*1064+268_*1064+273del) n.989+268_989+273del c.843+268_843+273del (n.843+268_843+273del) c.831+268_831+273del (n.831+268_831+273del) | gnomAD v3 gnomAD v4 |
12 | g.21562646G= | CA2021178508 | GYS2 | c.1062+272C= (n.1062+272C=) c.*1064+272C= (n.*1064+272C=) n.989+272C= c.843+272C= (n.843+272C=) c.831+272C= (n.831+272C=) | |
12 | g.21562646G>T | CA2021178507 | GYS2 | c.1062+272C>A (n.1062+272C>A) c.*1064+272C>A (n.*1064+272C>A) n.989+272C>A c.843+272C>A (n.843+272C>A) c.831+272C>A (n.831+272C>A) | dbSNP |
12 | g.21562646_21562649delinsGAGA | CA2021178505 | GYS2 | c.1062+269_1062+272delinsTCTC (n.1062+269_1062+272delinsTCTC) c.*1064+269_*1064+272delinsTCTC (n.*1064+269_*1064+272delinsTCTC) n.989+269_989+272delinsTCTC c.843+269_843+272delinsTCTC (n.843+269_843+272delinsTCTC) c.831+269_831+272delinsTCTC (n.831+269_831+272delinsTCTC) | |
12 | g.21562646_21562655delinsGAGAATGGGA | CA2021178506 | GYS2 | c.1062+263_1062+272delinsTCCCATTCTC (n.1062+263_1062+272delinsTCCCATTCTC) c.*1064+263_*1064+272delinsTCCCATTCTC (n.*1064+263_*1064+272delinsTCCCATTCTC) n.989+263_989+272delinsTCCCATTCTC c.843+263_843+272delinsTCCCATTCTC (n.843+263_843+272delinsTCCCATTCTC) c.831+263_831+272delinsTCCCATTCTC (n.831+263_831+272delinsTCCCATTCTC) | |
12 | g.21562648_21562650del | CA233606850 | GYS2 | c.1062+269_1062+271del (n.1062+269_1062+271del) c.*1064+269_*1064+271del (n.*1064+269_*1064+271del) n.989+269_989+271del c.843+269_843+271del (n.843+269_843+271del) c.831+269_831+271del (n.831+269_831+271del) | dbSNP |
12 | g.21562647_21562655del | CA2021178509 | GYS2 | c.1062+263_1062+271del (n.1062+263_1062+271del) c.*1064+263_*1064+271del (n.*1064+263_*1064+271del) n.989+263_989+271del c.843+263_843+271del (n.843+263_843+271del) c.831+263_831+271del (n.831+263_831+271del) | dbSNP |
12 | g.21562648del | CA945499705 | GYS2 | c.1062+270del (n.1062+270del) c.*1064+270del (n.*1064+270del) n.989+270del c.843+270del (n.843+270del) c.831+270del (n.831+270del) | gnomAD v3 gnomAD v4 |
12 | g.21562648G>A | CA2021178511 | GYS2 | c.1062+270C>T (n.1062+270C>T) c.*1064+270C>T (n.*1064+270C>T) n.989+270C>T c.843+270C>T (n.843+270C>T) c.831+270C>T (n.831+270C>T) | dbSNP |
12 | g.21562648G= | CA2021178510 | GYS2 | c.1062+270C= (n.1062+270C=) c.*1064+270C= (n.*1064+270C=) n.989+270C= c.843+270C= (n.843+270C=) c.831+270C= (n.831+270C=) | |
12 | g.21562648G>T | CA233606853 | GYS2 | c.1062+270C>A (n.1062+270C>A) c.*1064+270C>A (n.*1064+270C>A) n.989+270C>A c.843+270C>A (n.843+270C>A) c.831+270C>A (n.831+270C>A) | dbSNP |
12 | g.21562649_21562653del | CA945499706 | GYS2 | c.1062+266_1062+270del (n.1062+266_1062+270del) c.*1064+266_*1064+270del (n.*1064+266_*1064+270del) n.989+266_989+270del c.843+266_843+270del (n.843+266_843+270del) c.831+266_831+270del (n.831+266_831+270del) | gnomAD v3 gnomAD v4 |
12 | g.21562648_21562654del | CA945499707 | GYS2 | c.1062+264_1062+270del (n.1062+264_1062+270del) c.*1064+264_*1064+270del (n.*1064+264_*1064+270del) n.989+264_989+270del c.843+264_843+270del (n.843+264_843+270del) c.831+264_831+270del (n.831+264_831+270del) | gnomAD v3 gnomAD v4 |
12 | g.21562648_21562656delinsGAATGGGAT | CA2021178512 | GYS2 | c.1062+262_1062+270delinsATCCCATTC (n.1062+262_1062+270delinsATCCCATTC) c.*1064+262_*1064+270delinsATCCCATTC (n.*1064+262_*1064+270delinsATCCCATTC) n.989+262_989+270delinsATCCCATTC c.843+262_843+270delinsATCCCATTC (n.843+262_843+270delinsATCCCATTC) c.831+262_831+270delinsATCCCATTC (n.831+262_831+270delinsATCCCATTC) | |
12 | g.21562651_21562658del | CA233606869 | GYS2 | c.1062+262_1062+269del (n.1062+262_1062+269del) c.*1064+262_*1064+269del (n.*1064+262_*1064+269del) n.989+262_989+269del c.843+262_843+269del (n.843+262_843+269del) c.831+262_831+269del (n.831+262_831+269del) | dbSNP |
12 | g.21562651_21562657del | CA945499708 | GYS2 | c.1062+262_1062+268del (n.1062+262_1062+268del) c.*1064+262_*1064+268del (n.*1064+262_*1064+268del) n.989+262_989+268del c.843+262_843+268del (n.843+262_843+268del) c.831+262_831+268del (n.831+262_831+268del) | gnomAD v3 gnomAD v4 |
12 | g.21562651T>A | CA686414384 | GYS2 | c.1062+267A>T (n.1062+267A>T) c.*1064+267A>T (n.*1064+267A>T) n.989+267A>T c.843+267A>T (n.843+267A>T) c.831+267A>T (n.831+267A>T) | dbSNP |
12 | g.21562651T>G | CA233606882 | GYS2 | c.1062+267A>C (n.1062+267A>C) c.*1064+267A>C (n.*1064+267A>C) n.989+267A>C c.843+267A>C (n.843+267A>C) c.831+267A>C (n.831+267A>C) | dbSNP |
12 | g.21562651T= | CA2021178513 | GYS2 | c.1062+267A= (n.1062+267A=) c.*1064+267A= (n.*1064+267A=) n.989+267A= c.843+267A= (n.843+267A=) c.831+267A= (n.831+267A=) | |
12 | g.21562652G>A | CA2021178515 | GYS2 | c.1062+266C>T (n.1062+266C>T) c.*1064+266C>T (n.*1064+266C>T) n.989+266C>T c.843+266C>T (n.843+266C>T) c.831+266C>T (n.831+266C>T) | dbSNP |
12 | g.21562652G= | CA2021178514 | GYS2 | c.1062+266C= (n.1062+266C=) c.*1064+266C= (n.*1064+266C=) n.989+266C= c.843+266C= (n.843+266C=) c.831+266C= (n.831+266C=) | |
12 | g.21562653_21562654del | CA945499709 | GYS2 | c.1062+265_1062+266del (n.1062+265_1062+266del) c.*1064+265_*1064+266del (n.*1064+265_*1064+266del) n.989+265_989+266del c.843+265_843+266del (n.843+265_843+266del) c.831+265_831+266del (n.831+265_831+266del) | gnomAD v3 gnomAD v4 |
12 | g.21562653G= | CA2021178516 | GYS2 | c.1062+265C= (n.1062+265C=) c.*1064+265C= (n.*1064+265C=) n.989+265C= c.843+265C= (n.843+265C=) c.831+265C= (n.831+265C=) | |
12 | g.21562653G>T | CA686414385 | GYS2 | c.1062+265C>A (n.1062+265C>A) c.*1064+265C>A (n.*1064+265C>A) n.989+265C>A c.843+265C>A (n.843+265C>A) c.831+265C>A (n.831+265C>A) | dbSNP |
12 | g.21562654G>A | CA686414387 | GYS2 | c.1062+264C>T (n.1062+264C>T) c.*1064+264C>T (n.*1064+264C>T) n.989+264C>T c.843+264C>T (n.843+264C>T) c.831+264C>T (n.831+264C>T) | dbSNP |
12 | g.21562654G= | CA2021178517 | GYS2 | c.1062+264C= (n.1062+264C=) c.*1064+264C= (n.*1064+264C=) n.989+264C= c.843+264C= (n.843+264C=) c.831+264C= (n.831+264C=) | |
12 | g.21562658del | CA2794810009 | GYS2 | c.1062+261del (n.1062+261del) c.*1064+261del (n.*1064+261del) n.989+261del c.843+261del (n.843+261del) c.831+261del (n.831+261del) | |
12 | g.21562658A= | CA2021178518 | GYS2 | c.1062+260T= (n.1062+260T=) c.*1064+260T= (n.*1064+260T=) n.989+260T= c.843+260T= (n.843+260T=) c.831+260T= (n.831+260T=) | |
12 | g.21562658A>G | CA686414391 | GYS2 | c.1062+260T>C (n.1062+260T>C) c.*1064+260T>C (n.*1064+260T>C) n.989+260T>C c.843+260T>C (n.843+260T>C) c.831+260T>C (n.831+260T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562659G>C | CA2021178520 | GYS2 | c.1062+259C>G (n.1062+259C>G) c.*1064+259C>G (n.*1064+259C>G) n.989+259C>G c.843+259C>G (n.843+259C>G) c.831+259C>G (n.831+259C>G) | dbSNP |
12 | g.21562659G= | CA2021178519 | GYS2 | c.1062+259C= (n.1062+259C=) c.*1064+259C= (n.*1064+259C=) n.989+259C= c.843+259C= (n.843+259C=) c.831+259C= (n.831+259C=) | |
12 | g.21562660C>A | CA945499711 | GYS2 | c.1062+258G>T (n.1062+258G>T) c.*1064+258G>T (n.*1064+258G>T) n.989+258G>T c.843+258G>T (n.843+258G>T) c.831+258G>T (n.831+258G>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562660C= | CA2021178521 | GYS2 | c.1062+258G= (n.1062+258G=) c.*1064+258G= (n.*1064+258G=) n.989+258G= c.843+258G= (n.843+258G=) c.831+258G= (n.831+258G=) | |
12 | g.21562662T>A | CA945499712 | GYS2 | c.1062+256A>T (n.1062+256A>T) c.*1064+256A>T (n.*1064+256A>T) n.989+256A>T c.843+256A>T (n.843+256A>T) c.831+256A>T (n.831+256A>T) | gnomAD v3 gnomAD v4 |
12 | g.21562666G>A | CA945499715 | GYS2 | c.1062+252C>T (n.1062+252C>T) c.*1064+252C>T (n.*1064+252C>T) n.989+252C>T c.843+252C>T (n.843+252C>T) c.831+252C>T (n.831+252C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562666G>C | CA686414394 | GYS2 | c.1062+252C>G (n.1062+252C>G) c.*1064+252C>G (n.*1064+252C>G) n.989+252C>G c.843+252C>G (n.843+252C>G) c.831+252C>G (n.831+252C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562666G= | CA2021178522 | GYS2 | c.1062+252C= (n.1062+252C=) c.*1064+252C= (n.*1064+252C=) n.989+252C= c.843+252C= (n.843+252C=) c.831+252C= (n.831+252C=) | |
12 | g.21562668G>A | CA945499722 | GYS2 | c.1062+250C>T (n.1062+250C>T) c.*1064+250C>T (n.*1064+250C>T) n.989+250C>T c.843+250C>T (n.843+250C>T) c.831+250C>T (n.831+250C>T) | gnomAD v3 gnomAD v4 |
12 | g.21562668G= | CA2021178523 | GYS2 | c.1062+250C= (n.1062+250C=) c.*1064+250C= (n.*1064+250C=) n.989+250C= c.843+250C= (n.843+250C=) c.831+250C= (n.831+250C=) | |
12 | g.21562668G>T | CA945499724 | GYS2 | c.1062+250C>A (n.1062+250C>A) c.*1064+250C>A (n.*1064+250C>A) n.989+250C>A c.843+250C>A (n.843+250C>A) c.831+250C>A (n.831+250C>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562669A= | CA2021178524 | GYS2 | c.1062+249T= (n.1062+249T=) c.*1064+249T= (n.*1064+249T=) n.989+249T= c.843+249T= (n.843+249T=) c.831+249T= (n.831+249T=) | |
12 | g.21562669A>T | CA945499727 | GYS2 | c.1062+249T>A (n.1062+249T>A) c.*1064+249T>A (n.*1064+249T>A) n.989+249T>A c.843+249T>A (n.843+249T>A) c.831+249T>A (n.831+249T>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562670C>A | CA233606884 | GYS2 | c.1062+248G>T (n.1062+248G>T) c.*1064+248G>T (n.*1064+248G>T) n.989+248G>T c.843+248G>T (n.843+248G>T) c.831+248G>T (n.831+248G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562670C= | CA2021178525 | GYS2 | c.1062+248G= (n.1062+248G=) c.*1064+248G= (n.*1064+248G=) n.989+248G= c.843+248G= (n.843+248G=) c.831+248G= (n.831+248G=) | |
12 | g.21562671A= | CA2021178526 | GYS2 | c.1062+247T= (n.1062+247T=) c.*1064+247T= (n.*1064+247T=) n.989+247T= c.843+247T= (n.843+247T=) c.831+247T= (n.831+247T=) | |
12 | g.21562671A>G | CA2021178527 | GYS2 | c.1062+247T>C (n.1062+247T>C) c.*1064+247T>C (n.*1064+247T>C) n.989+247T>C c.843+247T>C (n.843+247T>C) c.831+247T>C (n.831+247T>C) | dbSNP |
12 | g.21562672T>A | CA945499729 | GYS2 | c.1062+246A>T (n.1062+246A>T) c.*1064+246A>T (n.*1064+246A>T) n.989+246A>T c.843+246A>T (n.843+246A>T) c.831+246A>T (n.831+246A>T) | gnomAD v3 gnomAD v4 |
12 | g.21562674T>A | CA945499730 | GYS2 | c.1062+244A>T (n.1062+244A>T) c.*1064+244A>T (n.*1064+244A>T) n.989+244A>T c.843+244A>T (n.843+244A>T) c.831+244A>T (n.831+244A>T) | gnomAD v3 gnomAD v4 |
12 | g.21562676A= | CA2021178528 | GYS2 | c.1062+242T= (n.1062+242T=) c.*1064+242T= (n.*1064+242T=) n.989+242T= c.843+242T= (n.843+242T=) c.831+242T= (n.831+242T=) | |
12 | g.21562676A>G | CA2021178529 | GYS2 | c.1062+242T>C (n.1062+242T>C) c.*1064+242T>C (n.*1064+242T>C) n.989+242T>C c.843+242T>C (n.843+242T>C) c.831+242T>C (n.831+242T>C) | dbSNP |
12 | g.21562677T>C | CA233606887 | GYS2 | c.1062+241A>G (n.1062+241A>G) c.*1064+241A>G (n.*1064+241A>G) n.989+241A>G c.843+241A>G (n.843+241A>G) c.831+241A>G (n.831+241A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562677T>G | CA945499731 | GYS2 | c.1062+241A>C (n.1062+241A>C) c.*1064+241A>C (n.*1064+241A>C) n.989+241A>C c.843+241A>C (n.843+241A>C) c.831+241A>C (n.831+241A>C) | gnomAD v3 gnomAD v4 |
12 | g.21562677T= | CA2021178530 | GYS2 | c.1062+241A= (n.1062+241A=) c.*1064+241A= (n.*1064+241A=) n.989+241A= c.843+241A= (n.843+241A=) c.831+241A= (n.831+241A=) | |
12 | g.21562678G>C | CA603675390 | GYS2 | c.1062+240C>G (n.1062+240C>G) c.*1064+240C>G (n.*1064+240C>G) n.989+240C>G c.843+240C>G (n.843+240C>G) c.831+240C>G (n.831+240C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562678G= | CA2021178531 | GYS2 | c.1062+240C= (n.1062+240C=) c.*1064+240C= (n.*1064+240C=) n.989+240C= c.843+240C= (n.843+240C=) c.831+240C= (n.831+240C=) | |
12 | g.21562679G>A | CA945499737 | GYS2 | c.1062+239C>T (n.1062+239C>T) c.*1064+239C>T (n.*1064+239C>T) n.989+239C>T c.843+239C>T (n.843+239C>T) c.831+239C>T (n.831+239C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562679G= | CA2021178532 | GYS2 | c.1062+239C= (n.1062+239C=) c.*1064+239C= (n.*1064+239C=) n.989+239C= c.843+239C= (n.843+239C=) c.831+239C= (n.831+239C=) | |
12 | g.21562679G>T | CA945499734 | GYS2 | c.1062+239C>A (n.1062+239C>A) c.*1064+239C>A (n.*1064+239C>A) n.989+239C>A c.843+239C>A (n.843+239C>A) c.831+239C>A (n.831+239C>A) | gnomAD v3 gnomAD v4 |
12 | g.21562680G>A | CA945499743 | GYS2 | c.1062+238C>T (n.1062+238C>T) c.*1064+238C>T (n.*1064+238C>T) n.989+238C>T c.843+238C>T (n.843+238C>T) c.831+238C>T (n.831+238C>T) | gnomAD v3 gnomAD v4 |
12 | g.21562680G= | CA2021178533 | GYS2 | c.1062+238C= (n.1062+238C=) c.*1064+238C= (n.*1064+238C=) n.989+238C= c.843+238C= (n.843+238C=) c.831+238C= (n.831+238C=) | |
12 | g.21562680G>T | CA945499741 | GYS2 | c.1062+238C>A (n.1062+238C>A) c.*1064+238C>A (n.*1064+238C>A) n.989+238C>A c.843+238C>A (n.843+238C>A) c.831+238C>A (n.831+238C>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562681A>C | CA2794810015 | GYS2 | c.1062+237T>G (n.1062+237T>G) c.*1064+237T>G (n.*1064+237T>G) n.989+237T>G c.843+237T>G (n.843+237T>G) c.831+237T>G (n.831+237T>G) | |
12 | g.21562682T>A | CA945499745 | GYS2 | c.1062+236A>T (n.1062+236A>T) c.*1064+236A>T (n.*1064+236A>T) n.989+236A>T c.843+236A>T (n.843+236A>T) c.831+236A>T (n.831+236A>T) | gnomAD v3 gnomAD v4 |
12 | g.21562685_21562688del | CA945499746 | GYS2 | c.1062+230_1062+233del (n.1062+230_1062+233del) c.*1064+230_*1064+233del (n.*1064+230_*1064+233del) n.989+230_989+233del c.843+230_843+233del (n.843+230_843+233del) c.831+230_831+233del (n.831+230_831+233del) | gnomAD v3 gnomAD v4 |
12 | g.21562686C>A | CA945499753 | GYS2 | c.1062+232G>T (n.1062+232G>T) c.*1064+232G>T (n.*1064+232G>T) n.989+232G>T c.843+232G>T (n.843+232G>T) c.831+232G>T (n.831+232G>T) | gnomAD v3 gnomAD v4 |
12 | g.21562686C= | CA2021178534 | GYS2 | c.1062+232G= (n.1062+232G=) c.*1064+232G= (n.*1064+232G=) n.989+232G= c.843+232G= (n.843+232G=) c.831+232G= (n.831+232G=) | |
12 | g.21562686C>T | CA603675392 | GYS2 | c.1062+232G>A (n.1062+232G>A) c.*1064+232G>A (n.*1064+232G>A) n.989+232G>A c.843+232G>A (n.843+232G>A) c.831+232G>A (n.831+232G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562687T>A | CA945499757 | GYS2 | c.1062+231A>T (n.1062+231A>T) c.*1064+231A>T (n.*1064+231A>T) n.989+231A>T c.843+231A>T (n.843+231A>T) c.831+231A>T (n.831+231A>T) | gnomAD v3 gnomAD v4 |
12 | g.21562688T>A | CA945499758 | GYS2 | c.1062+230A>T (n.1062+230A>T) c.*1064+230A>T (n.*1064+230A>T) n.989+230A>T c.843+230A>T (n.843+230A>T) c.831+230A>T (n.831+230A>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562688T>C | CA2021178536 | GYS2 | c.1062+230A>G (n.1062+230A>G) c.*1064+230A>G (n.*1064+230A>G) n.989+230A>G c.843+230A>G (n.843+230A>G) c.831+230A>G (n.831+230A>G) | dbSNP |
12 | g.21562688T= | CA2021178535 | GYS2 | c.1062+230A= (n.1062+230A=) c.*1064+230A= (n.*1064+230A=) n.989+230A= c.843+230A= (n.843+230A=) c.831+230A= (n.831+230A=) | |
12 | g.21562691G>A | CA945499764 | GYS2 | c.1062+227C>T (n.1062+227C>T) c.*1064+227C>T (n.*1064+227C>T) n.989+227C>T c.843+227C>T (n.843+227C>T) c.831+227C>T (n.831+227C>T) | gnomAD v3 gnomAD v4 |
12 | g.21562691G>T | CA945499903 | GYS2 | c.1062+227C>A (n.1062+227C>A) c.*1064+227C>A (n.*1064+227C>A) n.989+227C>A c.843+227C>A (n.843+227C>A) c.831+227C>A (n.831+227C>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562693T>A | CA945499918 | GYS2 | c.1062+225A>T (n.1062+225A>T) c.*1064+225A>T (n.*1064+225A>T) n.989+225A>T c.843+225A>T (n.843+225A>T) c.831+225A>T (n.831+225A>T) | gnomAD v3 gnomAD v4 |
12 | g.21562693T>G | CA945499915 | GYS2 | c.1062+225A>C (n.1062+225A>C) c.*1064+225A>C (n.*1064+225A>C) n.989+225A>C c.843+225A>C (n.843+225A>C) c.831+225A>C (n.831+225A>C) | gnomAD v3 gnomAD v4 |
12 | g.21562693_21562698del | CA945499910 | GYS2 | c.1062+220_1062+225del (n.1062+220_1062+225del) c.*1064+220_*1064+225del (n.*1064+220_*1064+225del) n.989+220_989+225del c.843+220_843+225del (n.843+220_843+225del) c.831+220_831+225del (n.831+220_831+225del) | gnomAD v3 gnomAD v4 |
12 | g.21562694T>C | CA945499922 | GYS2 | c.1062+224A>G (n.1062+224A>G) c.*1064+224A>G (n.*1064+224A>G) n.989+224A>G c.843+224A>G (n.843+224A>G) c.831+224A>G (n.831+224A>G) | gnomAD v3 gnomAD v4 |
12 | g.21562694T>G | CA2572739193 | GYS2 | c.1062+224A>C (n.1062+224A>C) c.*1064+224A>C (n.*1064+224A>C) n.989+224A>C c.843+224A>C (n.843+224A>C) c.831+224A>C (n.831+224A>C) | |
12 | g.21562694_21562698del | CA2794810018 | GYS2 | c.1062+220_1062+224del (n.1062+220_1062+224del) c.*1064+220_*1064+224del (n.*1064+220_*1064+224del) n.989+220_989+224del c.843+220_843+224del (n.843+220_843+224del) c.831+220_831+224del (n.831+220_831+224del) | |
12 | g.21562695C>A | CA945499924 | GYS2 | c.1062+223G>T (n.1062+223G>T) c.*1064+223G>T (n.*1064+223G>T) n.989+223G>T c.843+223G>T (n.843+223G>T) c.831+223G>T (n.831+223G>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562695C= | CA2021178538 | GYS2 | c.1062+223G= (n.1062+223G=) c.*1064+223G= (n.*1064+223G=) n.989+223G= c.843+223G= (n.843+223G=) c.831+223G= (n.831+223G=) | |
12 | g.21562695C>T | CA945499925 | GYS2 | c.1062+223G>A (n.1062+223G>A) c.*1064+223G>A (n.*1064+223G>A) n.989+223G>A c.843+223G>A (n.843+223G>A) c.831+223G>A (n.831+223G>A) | gnomAD v3 gnomAD v4 |
12 | g.21562695_21562696delinsCT | CA2021178537 | GYS2 | c.1062+222_1062+223delinsAG (n.1062+222_1062+223delinsAG) c.*1064+222_*1064+223delinsAG (n.*1064+222_*1064+223delinsAG) n.989+222_989+223delinsAG c.843+222_843+223delinsAG (n.843+222_843+223delinsAG) c.831+222_831+223delinsAG (n.831+222_831+223delinsAG) | |
12 | g.21562696del | CA686414395 | GYS2 | c.1062+222del (n.1062+222del) c.*1064+222del (n.*1064+222del) n.989+222del c.843+222del (n.843+222del) c.831+222del (n.831+222del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562696T>A | CA945499931 | GYS2 | c.1062+222A>T (n.1062+222A>T) c.*1064+222A>T (n.*1064+222A>T) n.989+222A>T c.843+222A>T (n.843+222A>T) c.831+222A>T (n.831+222A>T) | gnomAD v3 gnomAD v4 |
12 | g.21562696T>C | CA945499932 | GYS2 | c.1062+222A>G (n.1062+222A>G) c.*1064+222A>G (n.*1064+222A>G) n.989+222A>G c.843+222A>G (n.843+222A>G) c.831+222A>G (n.831+222A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562696T= | CA2021178540 | GYS2 | c.1062+222A= (n.1062+222A=) c.*1064+222A= (n.*1064+222A=) n.989+222A= c.843+222A= (n.843+222A=) c.831+222A= (n.831+222A=) | |
12 | g.21562696_21562697delinsTC | CA2021178539 | GYS2 | c.1062+221_1062+222delinsGA (n.1062+221_1062+222delinsGA) c.*1064+221_*1064+222delinsGA (n.*1064+221_*1064+222delinsGA) n.989+221_989+222delinsGA c.843+221_843+222delinsGA (n.843+221_843+222delinsGA) c.831+221_831+222delinsGA (n.831+221_831+222delinsGA) | |
12 | g.21562696_21562700del | CA945499930 | GYS2 | c.1062+218_1062+222del (n.1062+218_1062+222del) c.*1064+218_*1064+222del (n.*1064+218_*1064+222del) n.989+218_989+222del c.843+218_843+222del (n.843+218_843+222del) c.831+218_831+222del (n.831+218_831+222del) | gnomAD v3 gnomAD v4 |
12 | g.21562697C>A | CA945499938 | GYS2 | c.1062+221G>T (n.1062+221G>T) c.*1064+221G>T (n.*1064+221G>T) n.989+221G>T c.843+221G>T (n.843+221G>T) c.831+221G>T (n.831+221G>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562697C= | CA2021178543 | GYS2 | c.1062+221G= (n.1062+221G=) c.*1064+221G= (n.*1064+221G=) n.989+221G= c.843+221G= (n.843+221G=) c.831+221G= (n.831+221G=) | |
12 | g.21562697C>T | CA2021178542 | GYS2 | c.1062+221G>A (n.1062+221G>A) c.*1064+221G>A (n.*1064+221G>A) n.989+221G>A c.843+221G>A (n.843+221G>A) c.831+221G>A (n.831+221G>A) | dbSNP |
12 | g.21562698del | CA686414399 | GYS2 | c.1062+221del (n.1062+221del) c.*1064+221del (n.*1064+221del) n.989+221del c.843+221del (n.843+221del) c.831+221del (n.831+221del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562697_21562699delinsCCA | CA2021178545 | GYS2 | c.1062+219_1062+221delinsTGG (n.1062+219_1062+221delinsTGG) c.*1064+219_*1064+221delinsTGG (n.*1064+219_*1064+221delinsTGG) n.989+219_989+221delinsTGG c.843+219_843+221delinsTGG (n.843+219_843+221delinsTGG) c.831+219_831+221delinsTGG (n.831+219_831+221delinsTGG) | |
12 | g.21562697_21562701del | CA945499939 | GYS2 | c.1062+217_1062+221del (n.1062+217_1062+221del) c.*1064+217_*1064+221del (n.*1064+217_*1064+221del) n.989+217_989+221del c.843+217_843+221del (n.843+217_843+221del) c.831+217_831+221del (n.831+217_831+221del) | gnomAD v3 gnomAD v4 |
12 | g.21562697_21562701delinsCCAAA | CA2021178541 | GYS2 | c.1062+217_1062+221delinsTTTGG (n.1062+217_1062+221delinsTTTGG) c.*1064+217_*1064+221delinsTTTGG (n.*1064+217_*1064+221delinsTTTGG) n.989+217_989+221delinsTTTGG c.843+217_843+221delinsTTTGG (n.843+217_843+221delinsTTTGG) c.831+217_831+221delinsTTTGG (n.831+217_831+221delinsTTTGG) | |
12 | g.21562697_21562702delinsCCAAAA | CA2021178546 | GYS2 | c.1062+216_1062+221delinsTTTTGG (n.1062+216_1062+221delinsTTTTGG) c.*1064+216_*1064+221delinsTTTTGG (n.*1064+216_*1064+221delinsTTTTGG) n.989+216_989+221delinsTTTTGG c.843+216_843+221delinsTTTTGG (n.843+216_843+221delinsTTTTGG) c.831+216_831+221delinsTTTTGG (n.831+216_831+221delinsTTTTGG) | |
12 | g.21562697_21562703delinsCCAAAAA | CA2021178544 | GYS2 | c.1062+215_1062+221delinsTTTTTGG (n.1062+215_1062+221delinsTTTTTGG) c.*1064+215_*1064+221delinsTTTTTGG (n.*1064+215_*1064+221delinsTTTTTGG) n.989+215_989+221delinsTTTTTGG c.843+215_843+221delinsTTTTTGG (n.843+215_843+221delinsTTTTTGG) c.831+215_831+221delinsTTTTTGG (n.831+215_831+221delinsTTTTTGG) | |
12 | g.21562697_21562698insA | CA945499945 | GYS2 | c.1062+220_1062+221insT (n.1062+220_1062+221insT) c.*1064+220_*1064+221insT (n.*1064+220_*1064+221insT) n.989+220_989+221insT c.843+220_843+221insT (n.843+220_843+221insT) c.831+220_831+221insT (n.831+220_831+221insT) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562698C>A | CA686414402 | GYS2 | c.1062+220G>T (n.1062+220G>T) c.*1064+220G>T (n.*1064+220G>T) n.989+220G>T c.843+220G>T (n.843+220G>T) c.831+220G>T (n.831+220G>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562698C= | CA2021178547 | GYS2 | c.1062+220G= (n.1062+220G=) c.*1064+220G= (n.*1064+220G=) n.989+220G= c.843+220G= (n.843+220G=) c.831+220G= (n.831+220G=) | |
12 | g.21562698_21562699del | CA919039884 | GYS2 | c.1062+219_1062+220del (n.1062+219_1062+220del) c.*1064+219_*1064+220del (n.*1064+219_*1064+220del) n.989+219_989+220del c.843+219_843+220del (n.843+219_843+220del) c.831+219_831+220del (n.831+219_831+220del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562698_21562701del | CA945499949 | GYS2 | c.1062+217_1062+220del (n.1062+217_1062+220del) c.*1064+217_*1064+220del (n.*1064+217_*1064+220del) n.989+217_989+220del c.843+217_843+220del (n.843+217_843+220del) c.831+217_831+220del (n.831+217_831+220del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562698_21562702del | CA603675395 | GYS2 | c.1062+216_1062+220del (n.1062+216_1062+220del) c.*1064+216_*1064+220del (n.*1064+216_*1064+220del) n.989+216_989+220del c.843+216_843+220del (n.843+216_843+220del) c.831+216_831+220del (n.831+216_831+220del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562698_21562703del | CA919039885 | GYS2 | c.1062+215_1062+220del (n.1062+215_1062+220del) c.*1064+215_*1064+220del (n.*1064+215_*1064+220del) n.989+215_989+220del c.843+215_843+220del (n.843+215_843+220del) c.831+215_831+220del (n.831+215_831+220del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562698_21562703delinsCAAAAA | CA2695195800 | GYS2 | c.1062+215_1062+220delinsTTTTTG (n.1062+215_1062+220delinsTTTTTG) c.*1064+215_*1064+220delinsTTTTTG (n.*1064+215_*1064+220delinsTTTTTG) n.989+215_989+220delinsTTTTTG c.843+215_843+220delinsTTTTTG (n.843+215_843+220delinsTTTTTG) c.831+215_831+220delinsTTTTTG (n.831+215_831+220delinsTTTTTG) | |
12 | g.21562698_21562712delinsCAAAAAAAAAAAAAA | CA2021178548 | GYS2 | c.1062+206_1062+220delinsTTTTTTTTTTTTTTG (n.1062+206_1062+220delinsTTTTTTTTTTTTTTG) c.*1064+206_*1064+220delinsTTTTTTTTTTTTTTG (n.*1064+206_*1064+220delinsTTTTTTTTTTTTTTG) n.989+206_989+220delinsTTTTTTTTTTTTTTG c.843+206_843+220delinsTTTTTTTTTTTTTTG (n.843+206_843+220delinsTTTTTTTTTTTTTTG) c.831+206_831+220delinsTTTTTTTTTTTTTTG (n.831+206_831+220delinsTTTTTTTTTTTTTTG) | |
12 | g.21562699A= | CA2021178551 | GYS2 | c.1062+219T= (n.1062+219T=) c.*1064+219T= (n.*1064+219T=) n.989+219T= c.843+219T= (n.843+219T=) c.831+219T= (n.831+219T=) | |
12 | g.21562699A>C | CA2021178550 | GYS2 | c.1062+219T>G (n.1062+219T>G) c.*1064+219T>G (n.*1064+219T>G) n.989+219T>G c.843+219T>G (n.843+219T>G) c.831+219T>G (n.831+219T>G) | dbSNP |
12 | g.21562719_21562720insGAAAATAAAAAAAAAAAAAAAAAAAAAA | CA945499980 | GYS2 | c.1062+219_1062+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT (n.1062+219_1062+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT) c.*1064+219_*1064+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT (n.*1064+219_*1064+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT) n.989+219_989+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT c.843+219_843+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT (n.843+219_843+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT) c.831+219_831+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT (n.831+219_831+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562719_21562720insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA945499983 | GYS2 | c.1062+219_1062+220insTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT (n.1062+219_1062+220insTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT) c.*1064+219_*1064+220insTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT (n.*1064+219_*1064+220insTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT) n.989+219_989+220insTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT c.843+219_843+220insTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT (n.843+219_843+220insTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT) c.831+219_831+220insTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT (n.831+219_831+220insTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
12 | g.21562721_21562722insAAAAAAAAAAAAAAAAAAAAAAAAA | CA919039888 | GYS2 | c.1062+219_1062+220insTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062+219_1062+220insTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1064+219_*1064+220insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1064+219_*1064+220insTTTTTTTTTTTTTTTTTTTTTTTTT) n.989+219_989+220insTTTTTTTTTTTTTTTTTTTTTTTTT c.843+219_843+220insTTTTTTTTTTTTTTTTTTTTTTTTT (n.843+219_843+220insTTTTTTTTTTTTTTTTTTTTTTTTT) c.831+219_831+220insTTTTTTTTTTTTTTTTTTTTTTTTT (n.831+219_831+220insTTTTTTTTTTTTTTTTTTTTTTTTT) | dbSNP |
12 | g.21562721_21562722insAAAAAAAAAAAAAAAAAAAAAAAAAA | CA945500216 | GYS2 | c.1062+219_1062+220insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062+219_1062+220insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1064+219_*1064+220insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1064+219_*1064+220insTTTTTTTTTTTTTTTTTTTTTTTTTT) n.989+219_989+220insTTTTTTTTTTTTTTTTTTTTTTTTTT c.843+219_843+220insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.843+219_843+220insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.831+219_831+220insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.831+219_831+220insTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
12 | g.21562721_21562722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA945500220 | GYS2 | c.1062+219_1062+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062+219_1062+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1064+219_*1064+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1064+219_*1064+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.989+219_989+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.843+219_843+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.843+219_843+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.831+219_831+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.831+219_831+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
12 | g.21562721_21562722insAAAGACAATAAAAAAAAAAAAAAAAAAAAAAA | CA945499991 | GYS2 | c.1062+219_1062+220insATTGTCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062+219_1062+220insATTGTCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1064+219_*1064+220insATTGTCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1064+219_*1064+220insATTGTCTTTTTTTTTTTTTTTTTTTTTTTTTT) n.989+219_989+220insATTGTCTTTTTTTTTTTTTTTTTTTTTTTTTT c.843+219_843+220insATTGTCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.843+219_843+220insATTGTCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.831+219_831+220insATTGTCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.831+219_831+220insATTGTCTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
12 | g.21562721_21562722insAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA945499977 | GYS2 | c.1062+219_1062+220insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.1062+219_1062+220insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.*1064+219_*1064+220insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*1064+219_*1064+220insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.989+219_989+220insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT c.843+219_843+220insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.843+219_843+220insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.831+219_831+220insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.831+219_831+220insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562721_21562722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA945500222 | GYS2 | c.1062+219_1062+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062+219_1062+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1064+219_*1064+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1064+219_*1064+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.989+219_989+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.843+219_843+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.843+219_843+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.831+219_831+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.831+219_831+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
12 | g.21562721_21562722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA945500225 | GYS2 | c.1062+219_1062+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062+219_1062+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1064+219_*1064+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1064+219_*1064+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.989+219_989+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.843+219_843+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.843+219_843+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.831+219_831+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.831+219_831+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
12 | g.21562721_21562722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA945500226 | GYS2 | c.1062+219_1062+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062+219_1062+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1064+219_*1064+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1064+219_*1064+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.989+219_989+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.843+219_843+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.843+219_843+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.831+219_831+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.831+219_831+220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
12 | g.21562721_21562722insAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA945499993 | GYS2 | c.1062+219_1062+220insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062+219_1062+220insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1064+219_*1064+220insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1064+219_*1064+220insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT) n.989+219_989+220insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT c.843+219_843+220insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.843+219_843+220insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.831+219_831+220insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.831+219_831+220insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
12 | g.21562721_21562722insAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA945500228 | GYS2 | c.1062+219_1062+220insTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062+219_1062+220insTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1064+219_*1064+220insTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1064+219_*1064+220insTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.989+219_989+220insTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.843+219_843+220insTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.843+219_843+220insTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.831+219_831+220insTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.831+219_831+220insTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
12 | g.21562721_21562722insATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA945499985 | GYS2 | c.1062+219_1062+220insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.1062+219_1062+220insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.*1064+219_*1064+220insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*1064+219_*1064+220insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) n.989+219_989+220insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT c.843+219_843+220insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.843+219_843+220insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.831+219_831+220insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.831+219_831+220insTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
12 | g.21562721_21562722insAAAAAATAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA | CA945500019 | GYS2 | c.1062+219_1062+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1062+219_1062+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1064+219_*1064+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1064+219_*1064+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.989+219_989+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.843+219_843+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.843+219_843+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.831+219_831+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.831+219_831+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
12 | g.21562721_21562722insAATAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA945499986 | GYS2 | c.1062+219_1062+220insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.1062+219_1062+220insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.*1064+219_*1064+220insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*1064+219_*1064+220insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.989+219_989+220insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT c.843+219_843+220insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.843+219_843+220insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.831+219_831+220insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.831+219_831+220insTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
12 | g.21562721dup | CA603675399 | GYS2 | c.1062+219dup (n.1062+219dup) c.*1064+219dup (n.*1064+219dup) n.989+219dup c.843+219dup (n.843+219dup) c.831+219dup (n.831+219dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562720_21562721dup | CA686414427 | GYS2 | c.1062+218_1062+219dup (n.1062+218_1062+219dup) c.*1064+218_*1064+219dup (n.*1064+218_*1064+219dup) n.989+218_989+219dup c.843+218_843+219dup (n.843+218_843+219dup) c.831+218_831+219dup (n.831+218_831+219dup) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562719_21562721dup | CA686414429 | GYS2 | c.1062+217_1062+219dup (n.1062+217_1062+219dup) c.*1064+217_*1064+219dup (n.*1064+217_*1064+219dup) n.989+217_989+219dup c.843+217_843+219dup (n.843+217_843+219dup) c.831+217_831+219dup (n.831+217_831+219dup) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562718_21562721dup | CA945500022 | GYS2 | c.1062+216_1062+219dup (n.1062+216_1062+219dup) c.*1064+216_*1064+219dup (n.*1064+216_*1064+219dup) n.989+216_989+219dup c.843+216_843+219dup (n.843+216_843+219dup) c.831+216_831+219dup (n.831+216_831+219dup) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562717_21562721dup | CA945500027 | GYS2 | c.1062+215_1062+219dup (n.1062+215_1062+219dup) c.*1064+215_*1064+219dup (n.*1064+215_*1064+219dup) n.989+215_989+219dup c.843+215_843+219dup (n.843+215_843+219dup) c.831+215_831+219dup (n.831+215_831+219dup) | gnomAD v3 gnomAD v4 |
12 | g.21562716_21562721dup | CA945500031 | GYS2 | c.1062+214_1062+219dup (n.1062+214_1062+219dup) c.*1064+214_*1064+219dup (n.*1064+214_*1064+219dup) n.989+214_989+219dup c.843+214_843+219dup (n.843+214_843+219dup) c.831+214_831+219dup (n.831+214_831+219dup) | gnomAD v3 gnomAD v4 |
12 | g.21562715_21562721dup | CA945500033 | GYS2 | c.1062+213_1062+219dup (n.1062+213_1062+219dup) c.*1064+213_*1064+219dup (n.*1064+213_*1064+219dup) n.989+213_989+219dup c.843+213_843+219dup (n.843+213_843+219dup) c.831+213_831+219dup (n.831+213_831+219dup) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562714_21562721dup | CA945500034 | GYS2 | c.1062+212_1062+219dup (n.1062+212_1062+219dup) c.*1064+212_*1064+219dup (n.*1064+212_*1064+219dup) n.989+212_989+219dup c.843+212_843+219dup (n.843+212_843+219dup) c.831+212_831+219dup (n.831+212_831+219dup) | gnomAD v3 gnomAD v4 |
12 | g.21562713_21562721dup | CA945500017 | GYS2 | c.1062+211_1062+219dup (n.1062+211_1062+219dup) c.*1064+211_*1064+219dup (n.*1064+211_*1064+219dup) n.989+211_989+219dup c.843+211_843+219dup (n.843+211_843+219dup) c.831+211_831+219dup (n.831+211_831+219dup) | gnomAD v3 gnomAD v4 |
12 | g.21562711_21562721dup | CA945500197 | GYS2 | c.1062+209_1062+219dup (n.1062+209_1062+219dup) c.*1064+209_*1064+219dup (n.*1064+209_*1064+219dup) n.989+209_989+219dup c.843+209_843+219dup (n.843+209_843+219dup) c.831+209_831+219dup (n.831+209_831+219dup) | gnomAD v3 gnomAD v4 |
12 | g.21562710_21562721dup | CA945500200 | GYS2 | c.1062+208_1062+219dup (n.1062+208_1062+219dup) c.*1064+208_*1064+219dup (n.*1064+208_*1064+219dup) n.989+208_989+219dup c.843+208_843+219dup (n.843+208_843+219dup) c.831+208_831+219dup (n.831+208_831+219dup) | gnomAD v3 gnomAD v4 |
12 | g.21562709_21562721dup | CA945500206 | GYS2 | c.1062+207_1062+219dup (n.1062+207_1062+219dup) c.*1064+207_*1064+219dup (n.*1064+207_*1064+219dup) n.989+207_989+219dup c.843+207_843+219dup (n.843+207_843+219dup) c.831+207_831+219dup (n.831+207_831+219dup) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562721del | CA603675400 | GYS2 | c.1062+219del (n.1062+219del) c.*1064+219del (n.*1064+219del) n.989+219del c.843+219del (n.843+219del) c.831+219del (n.831+219del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562720_21562721del | CA603675403 | GYS2 | c.1062+218_1062+219del (n.1062+218_1062+219del) c.*1064+218_*1064+219del (n.*1064+218_*1064+219del) n.989+218_989+219del c.843+218_843+219del (n.843+218_843+219del) c.831+218_831+219del (n.831+218_831+219del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562719_21562721del | CA945499997 | GYS2 | c.1062+217_1062+219del (n.1062+217_1062+219del) c.*1064+217_*1064+219del (n.*1064+217_*1064+219del) n.989+217_989+219del c.843+217_843+219del (n.843+217_843+219del) c.831+217_831+219del (n.831+217_831+219del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562718_21562721del | CA233606931 | GYS2 | c.1062+216_1062+219del (n.1062+216_1062+219del) c.*1064+216_*1064+219del (n.*1064+216_*1064+219del) n.989+216_989+219del c.843+216_843+219del (n.843+216_843+219del) c.831+216_831+219del (n.831+216_831+219del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562717_21562721del | CA233606922 | GYS2 | c.1062+215_1062+219del (n.1062+215_1062+219del) c.*1064+215_*1064+219del (n.*1064+215_*1064+219del) n.989+215_989+219del c.843+215_843+219del (n.843+215_843+219del) c.831+215_831+219del (n.831+215_831+219del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562716_21562721del | CA233606914 | GYS2 | c.1062+214_1062+219del (n.1062+214_1062+219del) c.*1064+214_*1064+219del (n.*1064+214_*1064+219del) n.989+214_989+219del c.843+214_843+219del (n.843+214_843+219del) c.831+214_831+219del (n.831+214_831+219del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562715_21562721del | CA945500005 | GYS2 | c.1062+213_1062+219del (n.1062+213_1062+219del) c.*1064+213_*1064+219del (n.*1064+213_*1064+219del) n.989+213_989+219del c.843+213_843+219del (n.843+213_843+219del) c.831+213_831+219del (n.831+213_831+219del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562714_21562721del | CA945500014 | GYS2 | c.1062+212_1062+219del (n.1062+212_1062+219del) c.*1064+212_*1064+219del (n.*1064+212_*1064+219del) n.989+212_989+219del c.843+212_843+219del (n.843+212_843+219del) c.831+212_831+219del (n.831+212_831+219del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562713_21562721del | CA945500006 | GYS2 | c.1062+211_1062+219del (n.1062+211_1062+219del) c.*1064+211_*1064+219del (n.*1064+211_*1064+219del) n.989+211_989+219del c.843+211_843+219del (n.843+211_843+219del) c.831+211_831+219del (n.831+211_831+219del) | gnomAD v3 gnomAD v4 |
12 | g.21562712_21562721del | CA945500008 | GYS2 | c.1062+210_1062+219del (n.1062+210_1062+219del) c.*1064+210_*1064+219del (n.*1064+210_*1064+219del) n.989+210_989+219del c.843+210_843+219del (n.843+210_843+219del) c.831+210_831+219del (n.831+210_831+219del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562711_21562721del | CA945500010 | GYS2 | c.1062+209_1062+219del (n.1062+209_1062+219del) c.*1064+209_*1064+219del (n.*1064+209_*1064+219del) n.989+209_989+219del c.843+209_843+219del (n.843+209_843+219del) c.831+209_831+219del (n.831+209_831+219del) | gnomAD v3 gnomAD v4 |
12 | g.21562709_21562721del | CA2539319865 | GYS2 | c.1062+207_1062+219del (n.1062+207_1062+219del) c.*1064+207_*1064+219del (n.*1064+207_*1064+219del) n.989+207_989+219del c.843+207_843+219del (n.843+207_843+219del) c.831+207_831+219del (n.831+207_831+219del) | |
12 | g.21562708_21562721del | CA686414424 | GYS2 | c.1062+206_1062+219del (n.1062+206_1062+219del) c.*1064+206_*1064+219del (n.*1064+206_*1064+219del) n.989+206_989+219del c.843+206_843+219del (n.843+206_843+219del) c.831+206_831+219del (n.831+206_831+219del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562700A>C | CA603675407 | GYS2 | c.1062+218T>G (n.1062+218T>G) c.*1064+218T>G (n.*1064+218T>G) n.989+218T>G c.843+218T>G (n.843+218T>G) c.831+218T>G (n.831+218T>G) | gnomAD v2 |
12 | g.21562721_21562722insAATAAAAAAAAAAAAAAAAAAAAAA | CA603675406 | GYS2 | c.1062+218_1062+219insATTTTTTTTTTTTTTTTTTTTTTTT (n.1062+218_1062+219insATTTTTTTTTTTTTTTTTTTTTTTT) c.*1064+218_*1064+219insATTTTTTTTTTTTTTTTTTTTTTTT (n.*1064+218_*1064+219insATTTTTTTTTTTTTTTTTTTTTTTT) n.989+218_989+219insATTTTTTTTTTTTTTTTTTTTTTTT c.843+218_843+219insATTTTTTTTTTTTTTTTTTTTTTTT (n.843+218_843+219insATTTTTTTTTTTTTTTTTTTTTTTT) c.831+218_831+219insATTTTTTTTTTTTTTTTTTTTTTTT (n.831+218_831+219insATTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v2 |
12 | g.21562701A>C | CA603675409 | GYS2 | c.1062+217T>G (n.1062+217T>G) c.*1064+217T>G (n.*1064+217T>G) n.989+217T>G c.843+217T>G (n.843+217T>G) c.831+217T>G (n.831+217T>G) | gnomAD v2 |
12 | g.21562702A= | CA2021178561 | GYS2 | c.1062+216T= (n.1062+216T=) c.*1064+216T= (n.*1064+216T=) n.989+216T= c.843+216T= (n.843+216T=) c.831+216T= (n.831+216T=) | |
12 | g.21562702A>C | CA603675412 | GYS2 | c.1062+216T>G (n.1062+216T>G) c.*1064+216T>G (n.*1064+216T>G) n.989+216T>G c.843+216T>G (n.843+216T>G) c.831+216T>G (n.831+216T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562703A= | CA2021178563 | GYS2 | c.1062+215T= (n.1062+215T=) c.*1064+215T= (n.*1064+215T=) n.989+215T= c.843+215T= (n.843+215T=) c.831+215T= (n.831+215T=) | |
12 | g.21562703A>C | CA945500239 | GYS2 | c.1062+215T>G (n.1062+215T>G) c.*1064+215T>G (n.*1064+215T>G) n.989+215T>G c.843+215T>G (n.843+215T>G) c.831+215T>G (n.831+215T>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562721_21562722insATAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAA | CA2794810026 | GYS2 | c.1062+215_1062+216insCTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTT (n.1062+215_1062+216insCTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTT) c.*1064+215_*1064+216insCTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTT (n.*1064+215_*1064+216insCTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTT) n.989+215_989+216insCTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTT c.843+215_843+216insCTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTT (n.843+215_843+216insCTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTT) c.831+215_831+216insCTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTT (n.831+215_831+216insCTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTT) | |
12 | g.21562704A>C | CA603675413 | GYS2 | c.1062+214T>G (n.1062+214T>G) c.*1064+214T>G (n.*1064+214T>G) n.989+214T>G c.843+214T>G (n.843+214T>G) c.831+214T>G (n.831+214T>G) | gnomAD v2 |
12 | g.21562705A>G | CA2522190175 | GYS2 | c.1062+213T>C (n.1062+213T>C) c.*1064+213T>C (n.*1064+213T>C) n.989+213T>C c.843+213T>C (n.843+213T>C) c.831+213T>C (n.831+213T>C) | |
12 | g.21562709A= | CA2021178564 | GYS2 | c.1062+209T= (n.1062+209T=) c.*1064+209T= (n.*1064+209T=) n.989+209T= c.843+209T= (n.843+209T=) c.831+209T= (n.831+209T=) | |
12 | g.21562709A>C | CA2021178565 | GYS2 | c.1062+209T>G (n.1062+209T>G) c.*1064+209T>G (n.*1064+209T>G) n.989+209T>G c.843+209T>G (n.843+209T>G) c.831+209T>G (n.831+209T>G) | dbSNP |
12 | g.21562710A>C | CA2567373574 | GYS2 | c.1062+208T>G (n.1062+208T>G) c.*1064+208T>G (n.*1064+208T>G) n.989+208T>G c.843+208T>G (n.843+208T>G) c.831+208T>G (n.831+208T>G) | |
12 | g.21562713A>G | CA2549713881 | GYS2 | c.1062+205T>C (n.1062+205T>C) c.*1064+205T>C (n.*1064+205T>C) n.989+205T>C c.843+205T>C (n.843+205T>C) c.831+205T>C (n.831+205T>C) | |
12 | g.21562716A= | CA2021178568 | GYS2 | c.1062+202T= (n.1062+202T=) c.*1064+202T= (n.*1064+202T=) n.989+202T= c.843+202T= (n.843+202T=) c.831+202T= (n.831+202T=) | |
12 | g.21562716A>C | CA2533738721 | GYS2 | c.1062+202T>G (n.1062+202T>G) c.*1064+202T>G (n.*1064+202T>G) n.989+202T>G c.843+202T>G (n.843+202T>G) c.831+202T>G (n.831+202T>G) | |
12 | g.21562716A>G | CA2725946666 | GYS2 | c.1062+202T>C (n.1062+202T>C) c.*1064+202T>C (n.*1064+202T>C) n.989+202T>C c.843+202T>C (n.843+202T>C) c.831+202T>C (n.831+202T>C) | dbSNP |