Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
12g.21562729T>ACA945500291GYS2c.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
12g.21562732T>ACA945500292GYS2c.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
12g.21562734G>ACA945500293GYS2c.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
12g.21562734G>TCA945500294GYS2c.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
12g.21562738_21562741delCA2527181535GYS2c.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)
12g.21562736C>ACA945500297GYS2c.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
12g.21562738_21562740delinsAACCA2021178596GYS2c.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)
12g.21562739A=CA2021178599GYS2c.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=)
12g.21562739A>GCA233606938GYS2c.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
12g.21562744_21562745delCA2021178598GYS2c.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
12g.21562740C>ACA945500298GYS2c.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
12g.21562740C=CA2021178603GYS2c.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=)
12g.21562740C>TCA233606942GYS2c.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
12g.21562742C>ACA945500299GYS2c.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
12g.21562743A=CA2021178604GYS2c.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=)
12g.21562743A>CCA2537574104GYS2c.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)
12g.21562743A>GCA945500300GYS2c.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
12g.21562744C>ACA686414441GYS2c.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
12g.21562744C=CA2021178606GYS2c.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=)
12g.21562746A=CA2021178608GYS2c.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=)
12g.21562746A>TCA2021178609GYS2c.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
12g.21562747G>ACA945500301GYS2c.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
12g.21562748T>ACA945500303GYS2c.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
12g.21562748T>GCA2021178616GYS2c.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
12g.21562748T=CA2021178615GYS2c.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=)
12g.21562748_21562749delinsTCCA2021178614GYS2c.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)
12g.21562749delCA603675427GYS2c.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
12g.21562749C>ACA945500307GYS2c.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
12g.21562750A=CA2021178619GYS2c.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=)
12g.21562750A>TCA2021178621GYS2c.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
12g.21562752C>ACA945500311GYS2c.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
12g.21562759G>ACA686414442GYS2c.1062+159C>T (n.1062+159C>T)
c.*1064+159C>T (n.*1064+159C>T)
n.989+159C>T
c.843+159C>T (n.843+159C>T)
c.831+159C>T (n.831+159C>T)
dbSNP gnomAD v3 gnomAD v4
12g.21562759G=CA2021178622GYS2c.1062+159C= (n.1062+159C=)
c.*1064+159C= (n.*1064+159C=)
n.989+159C=
c.843+159C= (n.843+159C=)
c.831+159C= (n.831+159C=)
12g.21562760T>GCA2592986753GYS2c.1062+158A>C (n.1062+158A>C)
c.*1064+158A>C (n.*1064+158A>C)
n.989+158A>C
c.843+158A>C (n.843+158A>C)
c.831+158A>C (n.831+158A>C)
dbSNP gnomAD v3 gnomAD v4
12g.21562763C>GCA2592986754GYS2c.1062+155G>C (n.1062+155G>C)
c.*1064+155G>C (n.*1064+155G>C)
n.989+155G>C
c.843+155G>C (n.843+155G>C)
c.831+155G>C (n.831+155G>C)
dbSNP gnomAD v3 gnomAD v4
12g.21562764T>ACA2021178625GYS2c.1062+154A>T (n.1062+154A>T)
c.*1064+154A>T (n.*1064+154A>T)
n.989+154A>T
c.843+154A>T (n.843+154A>T)
c.831+154A>T (n.831+154A>T)
dbSNP
12g.21562764T=CA2021178624GYS2c.1062+154A= (n.1062+154A=)
c.*1064+154A= (n.*1064+154A=)
n.989+154A=
c.843+154A= (n.843+154A=)
c.831+154A= (n.831+154A=)
12g.21562766C>ACA2617923514GYS2c.1062+152G>T (n.1062+152G>T)
c.*1064+152G>T (n.*1064+152G>T)
n.989+152G>T
c.843+152G>T (n.843+152G>T)
c.831+152G>T (n.831+152G>T)
dbSNP gnomAD v4
12g.21562768A=CA2021178627GYS2c.1062+150T= (n.1062+150T=)
c.*1064+150T= (n.*1064+150T=)
n.989+150T=
c.843+150T= (n.843+150T=)
c.831+150T= (n.831+150T=)
12g.21562768A>GCA945500314GYS2c.1062+150T>C (n.1062+150T>C)
c.*1064+150T>C (n.*1064+150T>C)
n.989+150T>C
c.843+150T>C (n.843+150T>C)
c.831+150T>C (n.831+150T>C)
dbSNP gnomAD v3 gnomAD v4
12g.21562768A>TCA2617923515GYS2c.1062+150T>A (n.1062+150T>A)
c.*1064+150T>A (n.*1064+150T>A)
n.989+150T>A
c.843+150T>A (n.843+150T>A)
c.831+150T>A (n.831+150T>A)
gnomAD v4

Number of alleles fetched