Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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.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.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.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 |
12 | g.21562716_21562717insGAT | CA686414436 | GYS2 | c.1062+201_1062+202insATC (n.1062+201_1062+202insATC) c.*1064+201_*1064+202insATC (n.*1064+201_*1064+202insATC) n.989+201_989+202insATC c.843+201_843+202insATC (n.843+201_843+202insATC) c.831+201_831+202insATC (n.831+201_831+202insATC) | dbSNP |
12 | g.21562716_21562717insTTTT | CA2794810027 | GYS2 | c.1062+201_1062+202insAAAA (n.1062+201_1062+202insAAAA) c.*1064+201_*1064+202insAAAA (n.*1064+201_*1064+202insAAAA) n.989+201_989+202insAAAA c.843+201_843+202insAAAA (n.843+201_843+202insAAAA) c.831+201_831+202insAAAA (n.831+201_831+202insAAAA) | |
12 | g.21562717A= | CA2021178571 | GYS2 | c.1062+201T= (n.1062+201T=) c.*1064+201T= (n.*1064+201T=) n.989+201T= c.843+201T= (n.843+201T=) c.831+201T= (n.831+201T=) | |
12 | g.21562717A>C | CA233606937 | GYS2 | c.1062+201T>G (n.1062+201T>G) c.*1064+201T>G (n.*1064+201T>G) n.989+201T>G c.843+201T>G (n.843+201T>G) c.831+201T>G (n.831+201T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562717A>G | CA945500240 | GYS2 | c.1062+201T>C (n.1062+201T>C) c.*1064+201T>C (n.*1064+201T>C) n.989+201T>C c.843+201T>C (n.843+201T>C) c.831+201T>C (n.831+201T>C) | gnomAD v3 gnomAD v4 |
12 | g.21562717A>T | CA2537369752 | GYS2 | c.1062+201T>A (n.1062+201T>A) c.*1064+201T>A (n.*1064+201T>A) n.989+201T>A c.843+201T>A (n.843+201T>A) c.831+201T>A (n.831+201T>A) | |
12 | g.21562717_21562722delinsAAAAAG | CA2021178573 | GYS2 | c.1062+196_1062+201delinsCTTTTT (n.1062+196_1062+201delinsCTTTTT) c.*1064+196_*1064+201delinsCTTTTT (n.*1064+196_*1064+201delinsCTTTTT) n.989+196_989+201delinsCTTTTT c.843+196_843+201delinsCTTTTT (n.843+196_843+201delinsCTTTTT) c.831+196_831+201delinsCTTTTT (n.831+196_831+201delinsCTTTTT) | |
12 | g.21562718_21562723del | CA945500242 | GYS2 | c.1062+196_1062+201del (n.1062+196_1062+201del) c.*1064+196_*1064+201del (n.*1064+196_*1064+201del) n.989+196_989+201del c.843+196_843+201del (n.843+196_843+201del) c.831+196_831+201del (n.831+196_831+201del) | gnomAD v3 gnomAD v4 |
12 | g.21562719_21562723del | CA478869459 | GYS2 | c.1062+196_1062+200del (n.1062+196_1062+200del) c.*1064+196_*1064+200del (n.*1064+196_*1064+200del) n.989+196_989+200del c.843+196_843+200del (n.843+196_843+200del) c.831+196_831+200del (n.831+196_831+200del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562719A= | CA2021178577 | GYS2 | c.1062+199T= (n.1062+199T=) c.*1064+199T= (n.*1064+199T=) n.989+199T= c.843+199T= (n.843+199T=) c.831+199T= (n.831+199T=) | |
12 | g.21562719A>G | CA2021178578 | GYS2 | c.1062+199T>C (n.1062+199T>C) c.*1064+199T>C (n.*1064+199T>C) n.989+199T>C c.843+199T>C (n.843+199T>C) c.831+199T>C (n.831+199T>C) | dbSNP |
12 | g.21562719A>T | CA2569420318 | GYS2 | c.1062+199T>A (n.1062+199T>A) c.*1064+199T>A (n.*1064+199T>A) n.989+199T>A c.843+199T>A (n.843+199T>A) c.831+199T>A (n.831+199T>A) | |
12 | g.21562719_21562724delinsAAAGAT | CA2021178575 | GYS2 | c.1062+194_1062+199delinsATCTTT (n.1062+194_1062+199delinsATCTTT) c.*1064+194_*1064+199delinsATCTTT (n.*1064+194_*1064+199delinsATCTTT) n.989+194_989+199delinsATCTTT c.843+194_843+199delinsATCTTT (n.843+194_843+199delinsATCTTT) c.831+194_831+199delinsATCTTT (n.831+194_831+199delinsATCTTT) | |
12 | g.21562720A>G | CA945500246 | GYS2 | c.1062+198T>C (n.1062+198T>C) c.*1064+198T>C (n.*1064+198T>C) n.989+198T>C c.843+198T>C (n.843+198T>C) c.831+198T>C (n.831+198T>C) | gnomAD v3 gnomAD v4 |
12 | g.21562720A>T | CA2545766370 | GYS2 | c.1062+198T>A (n.1062+198T>A) c.*1064+198T>A (n.*1064+198T>A) n.989+198T>A c.843+198T>A (n.843+198T>A) c.831+198T>A (n.831+198T>A) | |
12 | g.21562720_21562724del | CA603675417 | GYS2 | c.1062+194_1062+198del (n.1062+194_1062+198del) c.*1064+194_*1064+198del (n.*1064+194_*1064+198del) n.989+194_989+198del c.843+194_843+198del (n.843+194_843+198del) c.831+194_831+198del (n.831+194_831+198del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562721A= | CA2021178580 | GYS2 | c.1062+197T= (n.1062+197T=) c.*1064+197T= (n.*1064+197T=) n.989+197T= c.843+197T= (n.843+197T=) c.831+197T= (n.831+197T=) | |
12 | g.21562721A>G | CA945500265 | GYS2 | c.1062+197T>C (n.1062+197T>C) c.*1064+197T>C (n.*1064+197T>C) n.989+197T>C c.843+197T>C (n.843+197T>C) c.831+197T>C (n.831+197T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562721_21562722delinsAG | CA2021178581 | GYS2 | c.1062+196_1062+197delinsCT (n.1062+196_1062+197delinsCT) c.*1064+196_*1064+197delinsCT (n.*1064+196_*1064+197delinsCT) n.989+196_989+197delinsCT c.843+196_843+197delinsCT (n.843+196_843+197delinsCT) c.831+196_831+197delinsCT (n.831+196_831+197delinsCT) | |
12 | g.21562721_21562724del | CA945500258 | GYS2 | c.1062+194_1062+197del (n.1062+194_1062+197del) c.*1064+194_*1064+197del (n.*1064+194_*1064+197del) n.989+194_989+197del c.843+194_843+197del (n.843+194_843+197del) c.831+194_831+197del (n.831+194_831+197del) | gnomAD v3 gnomAD v4 |
12 | g.21562722_21562726del | CA945500259 | GYS2 | c.1062+193_1062+197del (n.1062+193_1062+197del) c.*1064+193_*1064+197del (n.*1064+193_*1064+197del) n.989+193_989+197del c.843+193_843+197del (n.843+193_843+197del) c.831+193_831+197del (n.831+193_831+197del) | gnomAD v3 gnomAD v4 |
12 | g.21562722del | CA945500270 | GYS2 | c.1062+196del (n.1062+196del) c.*1064+196del (n.*1064+196del) n.989+196del c.843+196del (n.843+196del) c.831+196del (n.831+196del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562722G>A | CA603675418 | GYS2 | c.1062+196C>T (n.1062+196C>T) c.*1064+196C>T (n.*1064+196C>T) n.989+196C>T c.843+196C>T (n.843+196C>T) c.831+196C>T (n.831+196C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562722G= | CA2021178583 | GYS2 | c.1062+196C= (n.1062+196C=) c.*1064+196C= (n.*1064+196C=) n.989+196C= c.843+196C= (n.843+196C=) c.831+196C= (n.831+196C=) | |
12 | g.21562722G>T | CA945500271 | GYS2 | c.1062+196C>A (n.1062+196C>A) c.*1064+196C>A (n.*1064+196C>A) n.989+196C>A c.843+196C>A (n.843+196C>A) c.831+196C>A (n.831+196C>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562722_21562727del | CA2794810029 | GYS2 | c.1062+191_1062+196del (n.1062+191_1062+196del) c.*1064+191_*1064+196del (n.*1064+191_*1064+196del) n.989+191_989+196del c.843+191_843+196del (n.843+191_843+196del) c.831+191_831+196del (n.831+191_831+196del) | |
12 | g.21562723A>T | CA945500273 | GYS2 | c.1062+195T>A (n.1062+195T>A) c.*1064+195T>A (n.*1064+195T>A) n.989+195T>A c.843+195T>A (n.843+195T>A) c.831+195T>A (n.831+195T>A) | gnomAD v3 gnomAD v4 |
12 | g.21562724T>A | CA603675419 | GYS2 | c.1062+194A>T (n.1062+194A>T) c.*1064+194A>T (n.*1064+194A>T) n.989+194A>T c.843+194A>T (n.843+194A>T) c.831+194A>T (n.831+194A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562724T>C | CA945500277 | GYS2 | c.1062+194A>G (n.1062+194A>G) c.*1064+194A>G (n.*1064+194A>G) n.989+194A>G c.843+194A>G (n.843+194A>G) c.831+194A>G (n.831+194A>G) | gnomAD v3 gnomAD v4 |
12 | g.21562724T>G | CA945500280 | GYS2 | c.1062+194A>C (n.1062+194A>C) c.*1064+194A>C (n.*1064+194A>C) n.989+194A>C c.843+194A>C (n.843+194A>C) c.831+194A>C (n.831+194A>C) | gnomAD v3 gnomAD v4 |
12 | g.21562724T= | CA2021178587 | GYS2 | c.1062+194A= (n.1062+194A=) c.*1064+194A= (n.*1064+194A=) n.989+194A= c.843+194A= (n.843+194A=) c.831+194A= (n.831+194A=) | |
12 | g.21562724_21562725del | CA945500276 | GYS2 | c.1062+193_1062+194del (n.1062+193_1062+194del) c.*1064+193_*1064+194del (n.*1064+193_*1064+194del) n.989+193_989+194del c.843+193_843+194del (n.843+193_843+194del) c.831+193_831+194del (n.831+193_831+194del) | gnomAD v3 gnomAD v4 |
12 | g.21562724_21562727del | CA2725946674 | GYS2 | c.1062+191_1062+194del (n.1062+191_1062+194del) c.*1064+191_*1064+194del (n.*1064+191_*1064+194del) n.989+191_989+194del c.843+191_843+194del (n.843+191_843+194del) c.831+191_831+194del (n.831+191_831+194del) | dbSNP |
12 | g.21562725G>A | CA603675421 | GYS2 | c.1062+193C>T (n.1062+193C>T) c.*1064+193C>T (n.*1064+193C>T) n.989+193C>T c.843+193C>T (n.843+193C>T) c.831+193C>T (n.831+193C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562725G= | CA2021178590 | GYS2 | c.1062+193C= (n.1062+193C=) c.*1064+193C= (n.*1064+193C=) n.989+193C= c.843+193C= (n.843+193C=) c.831+193C= (n.831+193C=) | |
12 | g.21562725G>T | CA945500285 | GYS2 | c.1062+193C>A (n.1062+193C>A) c.*1064+193C>A (n.*1064+193C>A) n.989+193C>A c.843+193C>A (n.843+193C>A) c.831+193C>A (n.831+193C>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562726A= | CA2021178591 | GYS2 | c.1062+192T= (n.1062+192T=) c.*1064+192T= (n.*1064+192T=) n.989+192T= c.843+192T= (n.843+192T=) c.831+192T= (n.831+192T=) | |
12 | g.21562726A>G | CA603675423 | GYS2 | c.1062+192T>C (n.1062+192T>C) c.*1064+192T>C (n.*1064+192T>C) n.989+192T>C c.843+192T>C (n.843+192T>C) c.831+192T>C (n.831+192T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562726_21562727insAAA | CA945500289 | GYS2 | c.1062+192_1062+193insTTT (n.1062+192_1062+193insTTT) c.*1064+192_*1064+193insTTT (n.*1064+192_*1064+193insTTT) n.989+192_989+193insTTT c.843+192_843+193insTTT (n.843+192_843+193insTTT) c.831+192_831+193insTTT (n.831+192_831+193insTTT) | |
12 | g.21562727C>A | CA603675424 | GYS2 | c.1062+191G>T (n.1062+191G>T) c.*1064+191G>T (n.*1064+191G>T) n.989+191G>T c.843+191G>T (n.843+191G>T) c.831+191G>T (n.831+191G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562727C= | CA2021178593 | GYS2 | c.1062+191G= (n.1062+191G=) c.*1064+191G= (n.*1064+191G=) n.989+191G= c.843+191G= (n.843+191G=) c.831+191G= (n.831+191G=) | |
12 | g.21562727C>T | CA2021178594 | GYS2 | c.1062+191G>A (n.1062+191G>A) c.*1064+191G>A (n.*1064+191G>A) n.989+191G>A c.843+191G>A (n.843+191G>A) c.831+191G>A (n.831+191G>A) | dbSNP |
12 | g.21562729T>A | CA945500291 | GYS2 | c.1062+189A>T (n.1062+189A>T) c.*1064+189A>T (n.*1064+189A>T) n.989+189A>T c.843+189A>T (n.843+189A>T) c.831+189A>T (n.831+189A>T) | gnomAD v3 gnomAD v4 |
12 | g.21562732T>A | CA945500292 | GYS2 | c.1062+186A>T (n.1062+186A>T) c.*1064+186A>T (n.*1064+186A>T) n.989+186A>T c.843+186A>T (n.843+186A>T) c.831+186A>T (n.831+186A>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562734G>A | CA945500293 | GYS2 | c.1062+184C>T (n.1062+184C>T) c.*1064+184C>T (n.*1064+184C>T) n.989+184C>T c.843+184C>T (n.843+184C>T) c.831+184C>T (n.831+184C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562734G>T | CA945500294 | GYS2 | c.1062+184C>A (n.1062+184C>A) c.*1064+184C>A (n.*1064+184C>A) n.989+184C>A c.843+184C>A (n.843+184C>A) c.831+184C>A (n.831+184C>A) | gnomAD v3 gnomAD v4 |
12 | g.21562738_21562741del | CA2527181535 | GYS2 | c.1062+180_1062+183del (n.1062+180_1062+183del) c.*1064+180_*1064+183del (n.*1064+180_*1064+183del) n.989+180_989+183del c.843+180_843+183del (n.843+180_843+183del) c.831+180_831+183del (n.831+180_831+183del) | |
12 | g.21562736C>A | CA945500297 | GYS2 | c.1062+182G>T (n.1062+182G>T) c.*1064+182G>T (n.*1064+182G>T) n.989+182G>T c.843+182G>T (n.843+182G>T) c.831+182G>T (n.831+182G>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562738_21562740delinsAAC | CA2021178596 | GYS2 | c.1062+178_1062+180delinsGTT (n.1062+178_1062+180delinsGTT) c.*1064+178_*1064+180delinsGTT (n.*1064+178_*1064+180delinsGTT) n.989+178_989+180delinsGTT c.843+178_843+180delinsGTT (n.843+178_843+180delinsGTT) c.831+178_831+180delinsGTT (n.831+178_831+180delinsGTT) | |
12 | g.21562739A= | CA2021178599 | GYS2 | c.1062+179T= (n.1062+179T=) c.*1064+179T= (n.*1064+179T=) n.989+179T= c.843+179T= (n.843+179T=) c.831+179T= (n.831+179T=) | |
12 | g.21562739A>G | CA233606938 | GYS2 | c.1062+179T>C (n.1062+179T>C) c.*1064+179T>C (n.*1064+179T>C) n.989+179T>C c.843+179T>C (n.843+179T>C) c.831+179T>C (n.831+179T>C) | dbSNP |
12 | g.21562744_21562745del | CA2021178598 | GYS2 | c.1062+178_1062+179del (n.1062+178_1062+179del) c.*1064+178_*1064+179del (n.*1064+178_*1064+179del) n.989+178_989+179del c.843+178_843+179del (n.843+178_843+179del) c.831+178_831+179del (n.831+178_831+179del) | dbSNP |
12 | g.21562740C>A | CA945500298 | GYS2 | c.1062+178G>T (n.1062+178G>T) c.*1064+178G>T (n.*1064+178G>T) n.989+178G>T c.843+178G>T (n.843+178G>T) c.831+178G>T (n.831+178G>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562740C= | CA2021178603 | GYS2 | c.1062+178G= (n.1062+178G=) c.*1064+178G= (n.*1064+178G=) n.989+178G= c.843+178G= (n.843+178G=) c.831+178G= (n.831+178G=) | |
12 | g.21562740C>T | CA233606942 | GYS2 | c.1062+178G>A (n.1062+178G>A) c.*1064+178G>A (n.*1064+178G>A) n.989+178G>A c.843+178G>A (n.843+178G>A) c.831+178G>A (n.831+178G>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562742C>A | CA945500299 | GYS2 | c.1062+176G>T (n.1062+176G>T) c.*1064+176G>T (n.*1064+176G>T) n.989+176G>T c.843+176G>T (n.843+176G>T) c.831+176G>T (n.831+176G>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562743A= | CA2021178604 | GYS2 | c.1062+175T= (n.1062+175T=) c.*1064+175T= (n.*1064+175T=) n.989+175T= c.843+175T= (n.843+175T=) c.831+175T= (n.831+175T=) | |
12 | g.21562743A>C | CA2537574104 | GYS2 | c.1062+175T>G (n.1062+175T>G) c.*1064+175T>G (n.*1064+175T>G) n.989+175T>G c.843+175T>G (n.843+175T>G) c.831+175T>G (n.831+175T>G) | |
12 | g.21562743A>G | CA945500300 | GYS2 | c.1062+175T>C (n.1062+175T>C) c.*1064+175T>C (n.*1064+175T>C) n.989+175T>C c.843+175T>C (n.843+175T>C) c.831+175T>C (n.831+175T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562744C>A | CA686414441 | GYS2 | c.1062+174G>T (n.1062+174G>T) c.*1064+174G>T (n.*1064+174G>T) n.989+174G>T c.843+174G>T (n.843+174G>T) c.831+174G>T (n.831+174G>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562744C= | CA2021178606 | GYS2 | c.1062+174G= (n.1062+174G=) c.*1064+174G= (n.*1064+174G=) n.989+174G= c.843+174G= (n.843+174G=) c.831+174G= (n.831+174G=) | |
12 | g.21562746A= | CA2021178608 | GYS2 | c.1062+172T= (n.1062+172T=) c.*1064+172T= (n.*1064+172T=) n.989+172T= c.843+172T= (n.843+172T=) c.831+172T= (n.831+172T=) | |
12 | g.21562746A>T | CA2021178609 | GYS2 | c.1062+172T>A (n.1062+172T>A) c.*1064+172T>A (n.*1064+172T>A) n.989+172T>A c.843+172T>A (n.843+172T>A) c.831+172T>A (n.831+172T>A) | dbSNP |
12 | g.21562747G>A | CA945500301 | GYS2 | c.1062+171C>T (n.1062+171C>T) c.*1064+171C>T (n.*1064+171C>T) n.989+171C>T c.843+171C>T (n.843+171C>T) c.831+171C>T (n.831+171C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562748T>A | CA945500303 | GYS2 | c.1062+170A>T (n.1062+170A>T) c.*1064+170A>T (n.*1064+170A>T) n.989+170A>T c.843+170A>T (n.843+170A>T) c.831+170A>T (n.831+170A>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562748T>G | CA2021178616 | GYS2 | c.1062+170A>C (n.1062+170A>C) c.*1064+170A>C (n.*1064+170A>C) n.989+170A>C c.843+170A>C (n.843+170A>C) c.831+170A>C (n.831+170A>C) | dbSNP |
12 | g.21562748T= | CA2021178615 | GYS2 | c.1062+170A= (n.1062+170A=) c.*1064+170A= (n.*1064+170A=) n.989+170A= c.843+170A= (n.843+170A=) c.831+170A= (n.831+170A=) | |
12 | g.21562748_21562749delinsTC | CA2021178614 | GYS2 | c.1062+169_1062+170delinsGA (n.1062+169_1062+170delinsGA) c.*1064+169_*1064+170delinsGA (n.*1064+169_*1064+170delinsGA) n.989+169_989+170delinsGA c.843+169_843+170delinsGA (n.843+169_843+170delinsGA) c.831+169_831+170delinsGA (n.831+169_831+170delinsGA) | |
12 | g.21562749del | CA603675427 | GYS2 | c.1062+169del (n.1062+169del) c.*1064+169del (n.*1064+169del) n.989+169del c.843+169del (n.843+169del) c.831+169del (n.831+169del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562749C>A | CA945500307 | GYS2 | c.1062+169G>T (n.1062+169G>T) c.*1064+169G>T (n.*1064+169G>T) n.989+169G>T c.843+169G>T (n.843+169G>T) c.831+169G>T (n.831+169G>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562750A= | CA2021178619 | GYS2 | c.1062+168T= (n.1062+168T=) c.*1064+168T= (n.*1064+168T=) n.989+168T= c.843+168T= (n.843+168T=) c.831+168T= (n.831+168T=) | |
12 | g.21562750A>T | CA2021178621 | GYS2 | c.1062+168T>A (n.1062+168T>A) c.*1064+168T>A (n.*1064+168T>A) n.989+168T>A c.843+168T>A (n.843+168T>A) c.831+168T>A (n.831+168T>A) | dbSNP |
12 | g.21562752C>A | CA945500311 | GYS2 | c.1062+166G>T (n.1062+166G>T) c.*1064+166G>T (n.*1064+166G>T) n.989+166G>T c.843+166G>T (n.843+166G>T) c.831+166G>T (n.831+166G>T) | dbSNP gnomAD v3 gnomAD v4 |