Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.21562628T>CCA2794810006GYS2c.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)
12g.21562630T>CCA2021178491GYS2c.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
12g.21562630T=CA2021178490GYS2c.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=)
12g.21562631T>ACA945499689GYS2c.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
12g.21562635A=CA2021178492GYS2c.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=)
12g.21562635A>GCA233606798GYS2c.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
12g.21562636C>ACA945499693GYS2c.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
12g.21562637A=CA2021178493GYS2c.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=)
12g.21562637A>GCA2021178494GYS2c.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
12g.21562638T>ACA945499696GYS2c.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
12g.21562638T>CCA686414372GYS2c.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
12g.21562638T=CA2021178496GYS2c.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=)
12g.21562638_21562641delinsTAGACA2021178497GYS2c.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)
12g.21562638_21562646delinsTAGAAGGGGCA2021178495GYS2c.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)
12g.21562639A=CA2021178498GYS2c.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=)
12g.21562639A>GCA233606809GYS2c.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
12g.21562641_21562643delCA233606802GYS2c.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
12g.21562643_21562650delCA233606821GYS2c.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
12g.21562640G>TCA2794810007GYS2c.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)
12g.21562640_21562641delinsGACA2021178499GYS2c.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)
12g.21562642delCA919039880GYS2c.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
12g.21562642A=CA2021178501GYS2c.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=)
12g.21562642A>CCA2021178502GYS2c.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
12g.21562642_21562645delinsAGGGCA2021178503GYS2c.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)
12g.21562642_21562651delinsAGGGGAGAATCA2021178500GYS2c.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)
12g.21562646delCA945499701GYS2c.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
12g.21562644_21562646delCA945499702GYS2c.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
12g.21562643_21562651delinsGGGGAGAATCA2021178504GYS2c.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)
12g.21562646_21562654delCA233606826GYS2c.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
12g.21562648_21562655dupCA233606843GYS2c.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
12g.21562648_21562655delCA233606844GYS2c.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
12g.21562645_21562650delCA945499704GYS2c.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
12g.21562646G=CA2021178508GYS2c.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=)
12g.21562646G>TCA2021178507GYS2c.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
12g.21562646_21562649delinsGAGACA2021178505GYS2c.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)
12g.21562646_21562655delinsGAGAATGGGACA2021178506GYS2c.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)
12g.21562648_21562650delCA233606850GYS2c.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
12g.21562647_21562655delCA2021178509GYS2c.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
12g.21562648delCA945499705GYS2c.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
12g.21562648G>ACA2021178511GYS2c.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
12g.21562648G=CA2021178510GYS2c.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=)
12g.21562648G>TCA233606853GYS2c.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
12g.21562649_21562653delCA945499706GYS2c.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
12g.21562648_21562654delCA945499707GYS2c.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
12g.21562648_21562656delinsGAATGGGATCA2021178512GYS2c.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)
12g.21562651_21562658delCA233606869GYS2c.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
12g.21562651_21562657delCA945499708GYS2c.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
12g.21562651T>ACA686414384GYS2c.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
12g.21562651T>GCA233606882GYS2c.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
12g.21562651T=CA2021178513GYS2c.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=)
12g.21562652G>ACA2021178515GYS2c.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
12g.21562652G=CA2021178514GYS2c.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=)
12g.21562653_21562654delCA945499709GYS2c.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
12g.21562653G=CA2021178516GYS2c.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=)
12g.21562653G>TCA686414385GYS2c.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
12g.21562654G>ACA686414387GYS2c.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
12g.21562654G=CA2021178517GYS2c.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=)
12g.21562658delCA2794810009GYS2c.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)
12g.21562658A=CA2021178518GYS2c.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=)
12g.21562658A>GCA686414391GYS2c.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
12g.21562659G>CCA2021178520GYS2c.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
12g.21562659G=CA2021178519GYS2c.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=)
12g.21562660C>ACA945499711GYS2c.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
12g.21562660C=CA2021178521GYS2c.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=)
12g.21562662T>ACA945499712GYS2c.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
12g.21562666G>ACA945499715GYS2c.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
12g.21562666G>CCA686414394GYS2c.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
12g.21562666G=CA2021178522GYS2c.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=)
12g.21562668G>ACA945499722GYS2c.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
12g.21562668G=CA2021178523GYS2c.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=)
12g.21562668G>TCA945499724GYS2c.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
12g.21562669A=CA2021178524GYS2c.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=)
12g.21562669A>TCA945499727GYS2c.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
12g.21562670C>ACA233606884GYS2c.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
12g.21562670C=CA2021178525GYS2c.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=)
12g.21562671A=CA2021178526GYS2c.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=)
12g.21562671A>GCA2021178527GYS2c.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
12g.21562672T>ACA945499729GYS2c.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
12g.21562674T>ACA945499730GYS2c.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
12g.21562676A=CA2021178528GYS2c.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=)
12g.21562676A>GCA2021178529GYS2c.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
12g.21562677T>CCA233606887GYS2c.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
12g.21562677T>GCA945499731GYS2c.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
12g.21562677T=CA2021178530GYS2c.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=)
12g.21562678G>CCA603675390GYS2c.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
12g.21562678G=CA2021178531GYS2c.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=)
12g.21562679G>ACA945499737GYS2c.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
12g.21562679G=CA2021178532GYS2c.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=)
12g.21562679G>TCA945499734GYS2c.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
12g.21562680G>ACA945499743GYS2c.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
12g.21562680G=CA2021178533GYS2c.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=)
12g.21562680G>TCA945499741GYS2c.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
12g.21562681A>CCA2794810015GYS2c.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)
12g.21562682T>ACA945499745GYS2c.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
12g.21562685_21562688delCA945499746GYS2c.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
12g.21562686C>ACA945499753GYS2c.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
12g.21562686C=CA2021178534GYS2c.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=)
12g.21562686C>TCA603675392GYS2c.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
12g.21562687T>ACA945499757GYS2c.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
12g.21562688T>ACA945499758GYS2c.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
12g.21562688T>CCA2021178536GYS2c.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
12g.21562688T=CA2021178535GYS2c.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=)
12g.21562691G>ACA945499764GYS2c.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
12g.21562691G>TCA945499903GYS2c.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
12g.21562693T>ACA945499918GYS2c.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
12g.21562693T>GCA945499915GYS2c.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
12g.21562693_21562698delCA945499910GYS2c.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
12g.21562694T>CCA945499922GYS2c.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
12g.21562694T>GCA2572739193GYS2c.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)
12g.21562694_21562698delCA2794810018GYS2c.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)
12g.21562695C>ACA945499924GYS2c.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
12g.21562695C=CA2021178538GYS2c.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=)
12g.21562695C>TCA945499925GYS2c.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
12g.21562695_21562696delinsCTCA2021178537GYS2c.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)
12g.21562696delCA686414395GYS2c.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
12g.21562696T>ACA945499931GYS2c.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
12g.21562696T>CCA945499932GYS2c.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
12g.21562696T=CA2021178540GYS2c.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=)
12g.21562696_21562697delinsTCCA2021178539GYS2c.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)
12g.21562696_21562700delCA945499930GYS2c.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
12g.21562697C>ACA945499938GYS2c.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
12g.21562697C=CA2021178543GYS2c.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=)
12g.21562697C>TCA2021178542GYS2c.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
12g.21562698delCA686414399GYS2c.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
12g.21562697_21562699delinsCCACA2021178545GYS2c.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)
12g.21562697_21562701delCA945499939GYS2c.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
12g.21562697_21562701delinsCCAAACA2021178541GYS2c.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)
12g.21562697_21562702delinsCCAAAACA2021178546GYS2c.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)
12g.21562697_21562703delinsCCAAAAACA2021178544GYS2c.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)
12g.21562697_21562698insACA945499945GYS2c.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
12g.21562698C>ACA686414402GYS2c.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
12g.21562698C=CA2021178547GYS2c.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=)
12g.21562698_21562699delCA919039884GYS2c.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
12g.21562698_21562701delCA945499949GYS2c.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
12g.21562698_21562702delCA603675395GYS2c.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
12g.21562698_21562703delCA919039885GYS2c.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
12g.21562698_21562703delinsCAAAAACA2695195800GYS2c.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)
12g.21562698_21562712delinsCAAAAAAAAAAAAAACA2021178548GYS2c.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)
12g.21562699A=CA2021178551GYS2c.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=)
12g.21562699A>CCA2021178550GYS2c.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
12g.21562719_21562720insGAAAATAAAAAAAAAAAAAAAAAAAAAACA945499980GYS2c.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
12g.21562719_21562720insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA945499983GYS2c.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
12g.21562721_21562722insAAAAAAAAAAAAAAAAAAAAAAAAACA919039888GYS2c.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
12g.21562721_21562722insAAAAAAAAAAAAAAAAAAAAAAAAAACA945500216GYS2c.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
12g.21562721_21562722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA945500220GYS2c.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
12g.21562721_21562722insAAAGACAATAAAAAAAAAAAAAAAAAAAAAAACA945499991GYS2c.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
12g.21562721_21562722insAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA945499977GYS2c.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
12g.21562721_21562722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA945500222GYS2c.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
12g.21562721_21562722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA945500225GYS2c.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
12g.21562721_21562722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA945500226GYS2c.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
12g.21562721_21562722insAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA945499993GYS2c.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)
12g.21562721_21562722insAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA945500228GYS2c.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
12g.21562721_21562722insATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA945499985GYS2c.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
12g.21562721_21562722insAAAAAATAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAACA945500019GYS2c.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
12g.21562721_21562722insAATAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA945499986GYS2c.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
12g.21562721dupCA603675399GYS2c.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
12g.21562720_21562721dupCA686414427GYS2c.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
12g.21562719_21562721dupCA686414429GYS2c.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
12g.21562718_21562721dupCA945500022GYS2c.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
12g.21562717_21562721dupCA945500027GYS2c.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
12g.21562716_21562721dupCA945500031GYS2c.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
12g.21562715_21562721dupCA945500033GYS2c.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
12g.21562714_21562721dupCA945500034GYS2c.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
12g.21562713_21562721dupCA945500017GYS2c.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
12g.21562711_21562721dupCA945500197GYS2c.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
12g.21562710_21562721dupCA945500200GYS2c.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
12g.21562709_21562721dupCA945500206GYS2c.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
12g.21562721delCA603675400GYS2c.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
12g.21562720_21562721delCA603675403GYS2c.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
12g.21562719_21562721delCA945499997GYS2c.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
12g.21562718_21562721delCA233606931GYS2c.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
12g.21562717_21562721delCA233606922GYS2c.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
12g.21562716_21562721delCA233606914GYS2c.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
12g.21562715_21562721delCA945500005GYS2c.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
12g.21562714_21562721delCA945500014GYS2c.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
12g.21562713_21562721delCA945500006GYS2c.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
12g.21562712_21562721delCA945500008GYS2c.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
12g.21562711_21562721delCA945500010GYS2c.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
12g.21562709_21562721delCA2539319865GYS2c.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)
12g.21562708_21562721delCA686414424GYS2c.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
12g.21562700A>CCA603675407GYS2c.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
12g.21562721_21562722insAATAAAAAAAAAAAAAAAAAAAAAACA603675406GYS2c.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
12g.21562701A>CCA603675409GYS2c.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
12g.21562702A=CA2021178561GYS2c.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=)
12g.21562702A>CCA603675412GYS2c.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
12g.21562703A=CA2021178563GYS2c.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=)
12g.21562703A>CCA945500239GYS2c.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
12g.21562721_21562722insATAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAACA2794810026GYS2c.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)
12g.21562704A>CCA603675413GYS2c.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
12g.21562705A>GCA2522190175GYS2c.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)
12g.21562709A=CA2021178564GYS2c.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=)
12g.21562709A>CCA2021178565GYS2c.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
12g.21562710A>CCA2567373574GYS2c.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)
12g.21562713A>GCA2549713881GYS2c.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)
12g.21562716A=CA2021178568GYS2c.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=)
12g.21562716A>CCA2533738721GYS2c.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)
12g.21562716A>GCA2725946666GYS2c.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
12g.21562716_21562717insGATCA686414436GYS2c.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
12g.21562716_21562717insTTTTCA2794810027GYS2c.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)
12g.21562717A=CA2021178571GYS2c.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=)
12g.21562717A>CCA233606937GYS2c.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
12g.21562717A>GCA945500240GYS2c.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
12g.21562717A>TCA2537369752GYS2c.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)
12g.21562717_21562722delinsAAAAAGCA2021178573GYS2c.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)
12g.21562718_21562723delCA945500242GYS2c.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
12g.21562719_21562723delCA478869459GYS2c.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
12g.21562719A=CA2021178577GYS2c.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=)
12g.21562719A>GCA2021178578GYS2c.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
12g.21562719A>TCA2569420318GYS2c.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)
12g.21562719_21562724delinsAAAGATCA2021178575GYS2c.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)
12g.21562720A>GCA945500246GYS2c.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
12g.21562720A>TCA2545766370GYS2c.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)
12g.21562720_21562724delCA603675417GYS2c.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
12g.21562721A=CA2021178580GYS2c.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=)
12g.21562721A>GCA945500265GYS2c.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
12g.21562721_21562722delinsAGCA2021178581GYS2c.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)
12g.21562721_21562724delCA945500258GYS2c.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
12g.21562722_21562726delCA945500259GYS2c.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
12g.21562722delCA945500270GYS2c.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
12g.21562722G>ACA603675418GYS2c.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
12g.21562722G=CA2021178583GYS2c.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=)
12g.21562722G>TCA945500271GYS2c.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
12g.21562722_21562727delCA2794810029GYS2c.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)
12g.21562723A>TCA945500273GYS2c.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
12g.21562724T>ACA603675419GYS2c.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
12g.21562724T>CCA945500277GYS2c.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
12g.21562724T>GCA945500280GYS2c.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
12g.21562724T=CA2021178587GYS2c.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=)
12g.21562724_21562725delCA945500276GYS2c.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
12g.21562724_21562727delCA2725946674GYS2c.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
12g.21562725G>ACA603675421GYS2c.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
12g.21562725G=CA2021178590GYS2c.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=)
12g.21562725G>TCA945500285GYS2c.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
12g.21562726A=CA2021178591GYS2c.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=)
12g.21562726A>GCA603675423GYS2c.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
12g.21562726_21562727insAAACA945500289GYS2c.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)
12g.21562727C>ACA603675424GYS2c.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
12g.21562727C=CA2021178593GYS2c.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=)
12g.21562727C>TCA2021178594GYS2c.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

Number of alleles fetched