Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.89316387_89316407delinsGATGCAGTGCCCTAGAAGGGGCA2573151241FANCI,POLGc.*344_*364delinsCCCCTTCTAGGGCACTGCATC (n.*344_*364delinsCCCCTTCTAGGGCACTGCATC)
c.3646-10_3656delinsGATGCAGTGCCCTAGAAGGGG
c.3388-10_3398delinsGATGCAGTGCCCTAGAAGGGG
c.3925-10_3935delinsGATGCAGTGCCCTAGAAGGGG
n.5510-10_5520delinsGATGCAGTGCCCTAGAAGGGG
c.3764_3784delinsCCCCTTCTAGGGCACTGCATC (n.3764_3784delinsCCCCTTCTAGGGCACTGCATC)
c.73+299_73+319delinsCCCCTTCTAGGGCACTGCATC
c.*1134_*1154delinsCCCCTTCTAGGGCACTGCATC (n.*1134_*1154delinsCCCCTTCTAGGGCACTGCATC)
c.2972_2992delinsCCCCTTCTAGGGCACTGCATC (n.2972_2992delinsCCCCTTCTAGGGCACTGCATC)
c.3076_3096delinsCCCCTTCTAGGGCACTGCATC
c.3641_3661delinsCCCCTTCTAGGGCACTGCATC
n.5266_5286delinsCCCCTTCTAGGGCACTGCATC
n.1843_1863delinsCCCCTTCTAGGGCACTGCATC
n.4064_4084delinsCCCCTTCTAGGGCACTGCATC
c.4057-10_4067delinsGATGCAGTGCCCTAGAAGGGG
n.3130-10_3140delinsGATGCAGTGCCCTAGAAGGGG
c.3883-10_3893delinsGATGCAGTGCCCTAGAAGGGG
n.3506-10_3516delinsGATGCAGTGCCCTAGAAGGGG
c.3745-10_3755delinsGATGCAGTGCCCTAGAAGGGG
c.*269-10_*279delinsGATGCAGTGCCCTAGAAGGGG
c.1247_1267delinsCCCCTTCTAGGGCACTGCATC (n.1247_1267delinsCCCCTTCTAGGGCACTGCATC)
c.3221-10_3231delinsGATGCAGTGCCCTAGAAGGGG
n.508-10_518delinsGATGCAGTGCCCTAGAAGGGG
n.3932-10_3942delinsGATGCAGTGCCCTAGAAGGGG
c.*3488_*3508delinsCCCCTTCTAGGGCACTGCATC (n.*3488_*3508delinsCCCCTTCTAGGGCACTGCATC)
c.3580-10_3590delinsGATGCAGTGCCCTAGAAGGGG
 ClinVar
15g.89316396_89317131delinsGGGCACTGCATCAGAGCATGGGGGACAGAACAAAGAACCAGCCAAGAAGAAAAGGAAAAAATAAATGAAATGCCTGAGTTAATGTGAACTTTGGGGCTTCTGCTTCATTTTTACCCAACAAGCAACAATGCCCCTTGTCCTGTAGTCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTCA2194536583FANCI,POLGc.3643+245_*355delinsAATGTTTAAAGATAATTTATTCTATAGAGTGCATTCTTGCACTCTATAGGTGACAGAAAAACAAACTGTGCTTTAAATACCAAACAAGTAAATCAGAAAGCTTATTTTCTATTTAAAATATATCTAAGACACACTTATATAAAAAGAAAACAGACCCTCCTAACATGTAACATTACCGTTCGTGGCAATTGTTCTCAACCTTTCACTCTCCTTTTGACCTTAGCATTAAGCTCCTTTGCTCACTTCTGAGCTCTCAGTTACAGTTCTTGAGGTGGCATCCTAACCAATTTGCACTATCTTTCAGGTGAAGCGCTGGATATTTACCAGATAATTGAACTCACCAAAGGCTCCTTGGAAAAACGAAGCCAGCCTGGACCATAGCACTGCCTGGAGGCTCTGTATTTGCTCCCGTGGAGCTTCATCGGGGTGGTGCAGGCTCCCAAACTCAGGCTTTCAGCTGTGCTTTTTGCAAAAGGGCTTGCCTAAGGCCAGCCATTTTTCAGTAGCAGGACCTGCCAAGAAGATTCCTTCTAACTGAAGGTGCAGTTGAATTCAGTGGGTTCAGAACCAAGATGCCAACATCGGTGTGGACTACAGGACAAGGGGCATTGTTGCTTGTTGGGTAAAAATGAAGCAGAAGCCCCAAAGTTCACATTAACTCAGGCATTTCATTTATTTTTTCCTTTTCTTCTTGGCTGGTTCTTTGTTCTGTCCCCCATGCTCTGATGCAGTGCCC
c.3925-1_*672delinsGGGCACTGCATCAGAGCATGGGGGACAGAACAAAGAACCAGCCAAGAAGAAAAGGAAAAAATAAATGAAATGCCTGAGTTAATGTGAACTTTGGGGCTTCTGCTTCATTTTTACCCAACAAGCAACAATGCCCCTTGTCCTGTAGTCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATT
c.3343+245_3775delinsAATGTTTAAAGATAATTTATTCTATAGAGTGCATTCTTGCACTCTATAGGTGACAGAAAAACAAACTGTGCTTTAAATACCAAACAAGTAAATCAGAAAGCTTATTTTCTATTTAAAATATATCTAAGACACACTTATATAAAAAGAAAACAGACCCTCCTAACATGTAACATTACCGTTCGTGGCAATTGTTCTCAACCTTTCACTCTCCTTTTGACCTTAGCATTAAGCTCCTTTGCTCACTTCTGAGCTCTCAGTTACAGTTCTTGAGGTGGCATCCTAACCAATTTGCACTATCTTTCAGGTGAAGCGCTGGATATTTACCAGATAATTGAACTCACCAAAGGCTCCTTGGAAAAACGAAGCCAGCCTGGACCATAGCACTGCCTGGAGGCTCTGTATTTGCTCCCGTGGAGCTTCATCGGGGTGGTGCAGGCTCCCAAACTCAGGCTTTCAGCTGTGCTTTTTGCAAAAGGGCTTGCCTAAGGCCAGCCATTTTTCAGTAGCAGGACCTGCCAAGAAGATTCCTTCTAACTGAAGGTGCAGTTGAATTCAGTGGGTTCAGAACCAAGATGCCAACATCGGTGTGGACTACAGGACAAGGGGCATTGTTGCTTGTTGGGTAAAAATGAAGCAGAAGCCCCAAAGTTCACATTAACTCAGGCATTTCATTTATTTTTTCCTTTTCTTCTTGGCTGGTTCTTTGTTCTGTCCCCCATGCTCTGATGCAGTGCCC
c.*713+245_*1145delinsAATGTTTAAAGATAATTTATTCTATAGAGTGCATTCTTGCACTCTATAGGTGACAGAAAAACAAACTGTGCTTTAAATACCAAACAAGTAAATCAGAAAGCTTATTTTCTATTTAAAATATATCTAAGACACACTTATATAAAAAGAAAACAGACCCTCCTAACATGTAACATTACCGTTCGTGGCAATTGTTCTCAACCTTTCACTCTCCTTTTGACCTTAGCATTAAGCTCCTTTGCTCACTTCTGAGCTCTCAGTTACAGTTCTTGAGGTGGCATCCTAACCAATTTGCACTATCTTTCAGGTGAAGCGCTGGATATTTACCAGATAATTGAACTCACCAAAGGCTCCTTGGAAAAACGAAGCCAGCCTGGACCATAGCACTGCCTGGAGGCTCTGTATTTGCTCCCGTGGAGCTTCATCGGGGTGGTGCAGGCTCCCAAACTCAGGCTTTCAGCTGTGCTTTTTGCAAAAGGGCTTGCCTAAGGCCAGCCATTTTTCAGTAGCAGGACCTGCCAAGAAGATTCCTTCTAACTGAAGGTGCAGTTGAATTCAGTGGGTTCAGAACCAAGATGCCAACATCGGTGTGGACTACAGGACAAGGGGCATTGTTGCTTGTTGGGTAAAAATGAAGCAGAAGCCCCAAAGTTCACATTAACTCAGGCATTTCATTTATTTTTTCCTTTTCTTCTTGGCTGGTTCTTTGTTCTGTCCCCCATGCTCTGATGCAGTGCCC
c.2551+245_2983delinsAATGTTTAAAGATAATTTATTCTATAGAGTGCATTCTTGCACTCTATAGGTGACAGAAAAACAAACTGTGCTTTAAATACCAAACAAGTAAATCAGAAAGCTTATTTTCTATTTAAAATATATCTAAGACACACTTATATAAAAAGAAAACAGACCCTCCTAACATGTAACATTACCGTTCGTGGCAATTGTTCTCAACCTTTCACTCTCCTTTTGACCTTAGCATTAAGCTCCTTTGCTCACTTCTGAGCTCTCAGTTACAGTTCTTGAGGTGGCATCCTAACCAATTTGCACTATCTTTCAGGTGAAGCGCTGGATATTTACCAGATAATTGAACTCACCAAAGGCTCCTTGGAAAAACGAAGCCAGCCTGGACCATAGCACTGCCTGGAGGCTCTGTATTTGCTCCCGTGGAGCTTCATCGGGGTGGTGCAGGCTCCCAAACTCAGGCTTTCAGCTGTGCTTTTTGCAAAAGGGCTTGCCTAAGGCCAGCCATTTTTCAGTAGCAGGACCTGCCAAGAAGATTCCTTCTAACTGAAGGTGCAGTTGAATTCAGTGGGTTCAGAACCAAGATGCCAACATCGGTGTGGACTACAGGACAAGGGGCATTGTTGCTTGTTGGGTAAAAATGAAGCAGAAGCCCCAAAGTTCACATTAACTCAGGCATTTCATTTATTTTTTCCTTTTCTTCTTGGCTGGTTCTTTGTTCTGTCCCCCATGCTCTGATGCAGTGCCC
c.2655+245_3087delinsAATGTTTAAAGATAATTTATTCTATAGAGTGCATTCTTGCACTCTATAGGTGACAGAAAAACAAACTGTGCTTTAAATACCAAACAAGTAAATCAGAAAGCTTATTTTCTATTTAAAATATATCTAAGACACACTTATATAAAAAGAAAACAGACCCTCCTAACATGTAACATTACCGTTCGTGGCAATTGTTCTCAACCTTTCACTCTCCTTTTGACCTTAGCATTAAGCTCCTTTGCTCACTTCTGAGCTCTCAGTTACAGTTCTTGAGGTGGCATCCTAACCAATTTGCACTATCTTTCAGGTGAAGCGCTGGATATTTACCAGATAATTGAACTCACCAAAGGCTCCTTGGAAAAACGAAGCCAGCCTGGACCATAGCACTGCCTGGAGGCTCTGTATTTGCTCCCGTGGAGCTTCATCGGGGTGGTGCAGGCTCCCAAACTCAGGCTTTCAGCTGTGCTTTTTGCAAAAGGGCTTGCCTAAGGCCAGCCATTTTTCAGTAGCAGGACCTGCCAAGAAGATTCCTTCTAACTGAAGGTGCAGTTGAATTCAGTGGGTTCAGAACCAAGATGCCAACATCGGTGTGGACTACAGGACAAGGGGCATTGTTGCTTGTTGGGTAAAAATGAAGCAGAAGCCCCAAAGTTCACATTAACTCAGGCATTTCATTTATTTTTTCCTTTTCTTCTTGGCTGGTTCTTTGTTCTGTCCCCCATGCTCTGATGCAGTGCCC
c.3220+245_3652delinsAATGTTTAAAGATAATTTATTCTATAGAGTGCATTCTTGCACTCTATAGGTGACAGAAAAACAAACTGTGCTTTAAATACCAAACAAGTAAATCAGAAAGCTTATTTTCTATTTAAAATATATCTAAGACACACTTATATAAAAAGAAAACAGACCCTCCTAACATGTAACATTACCGTTCGTGGCAATTGTTCTCAACCTTTCACTCTCCTTTTGACCTTAGCATTAAGCTCCTTTGCTCACTTCTGAGCTCTCAGTTACAGTTCTTGAGGTGGCATCCTAACCAATTTGCACTATCTTTCAGGTGAAGCGCTGGATATTTACCAGATAATTGAACTCACCAAAGGCTCCTTGGAAAAACGAAGCCAGCCTGGACCATAGCACTGCCTGGAGGCTCTGTATTTGCTCCCGTGGAGCTTCATCGGGGTGGTGCAGGCTCCCAAACTCAGGCTTTCAGCTGTGCTTTTTGCAAAAGGGCTTGCCTAAGGCCAGCCATTTTTCAGTAGCAGGACCTGCCAAGAAGATTCCTTCTAACTGAAGGTGCAGTTGAATTCAGTGGGTTCAGAACCAAGATGCCAACATCGGTGTGGACTACAGGACAAGGGGCATTGTTGCTTGTTGGGTAAAAATGAAGCAGAAGCCCCAAAGTTCACATTAACTCAGGCATTTCATTTATTTTTTCCTTTTCTTCTTGGCTGGTTCTTTGTTCTGTCCCCCATGCTCTGATGCAGTGCCC
n.4845+245_5277delinsAATGTTTAAAGATAATTTATTCTATAGAGTGCATTCTTGCACTCTATAGGTGACAGAAAAACAAACTGTGCTTTAAATACCAAACAAGTAAATCAGAAAGCTTATTTTCTATTTAAAATATATCTAAGACACACTTATATAAAAAGAAAACAGACCCTCCTAACATGTAACATTACCGTTCGTGGCAATTGTTCTCAACCTTTCACTCTCCTTTTGACCTTAGCATTAAGCTCCTTTGCTCACTTCTGAGCTCTCAGTTACAGTTCTTGAGGTGGCATCCTAACCAATTTGCACTATCTTTCAGGTGAAGCGCTGGATATTTACCAGATAATTGAACTCACCAAAGGCTCCTTGGAAAAACGAAGCCAGCCTGGACCATAGCACTGCCTGGAGGCTCTGTATTTGCTCCCGTGGAGCTTCATCGGGGTGGTGCAGGCTCCCAAACTCAGGCTTTCAGCTGTGCTTTTTGCAAAAGGGCTTGCCTAAGGCCAGCCATTTTTCAGTAGCAGGACCTGCCAAGAAGATTCCTTCTAACTGAAGGTGCAGTTGAATTCAGTGGGTTCAGAACCAAGATGCCAACATCGGTGTGGACTACAGGACAAGGGGCATTGTTGCTTGTTGGGTAAAAATGAAGCAGAAGCCCCAAAGTTCACATTAACTCAGGCATTTCATTTATTTTTTCCTTTTCTTCTTGGCTGGTTCTTTGTTCTGTCCCCCATGCTCTGATGCAGTGCCC
n.1422+245_1854delinsAATGTTTAAAGATAATTTATTCTATAGAGTGCATTCTTGCACTCTATAGGTGACAGAAAAACAAACTGTGCTTTAAATACCAAACAAGTAAATCAGAAAGCTTATTTTCTATTTAAAATATATCTAAGACACACTTATATAAAAAGAAAACAGACCCTCCTAACATGTAACATTACCGTTCGTGGCAATTGTTCTCAACCTTTCACTCTCCTTTTGACCTTAGCATTAAGCTCCTTTGCTCACTTCTGAGCTCTCAGTTACAGTTCTTGAGGTGGCATCCTAACCAATTTGCACTATCTTTCAGGTGAAGCGCTGGATATTTACCAGATAATTGAACTCACCAAAGGCTCCTTGGAAAAACGAAGCCAGCCTGGACCATAGCACTGCCTGGAGGCTCTGTATTTGCTCCCGTGGAGCTTCATCGGGGTGGTGCAGGCTCCCAAACTCAGGCTTTCAGCTGTGCTTTTTGCAAAAGGGCTTGCCTAAGGCCAGCCATTTTTCAGTAGCAGGACCTGCCAAGAAGATTCCTTCTAACTGAAGGTGCAGTTGAATTCAGTGGGTTCAGAACCAAGATGCCAACATCGGTGTGGACTACAGGACAAGGGGCATTGTTGCTTGTTGGGTAAAAATGAAGCAGAAGCCCCAAAGTTCACATTAACTCAGGCATTTCATTTATTTTTTCCTTTTCTTCTTGGCTGGTTCTTTGTTCTGTCCCCCATGCTCTGATGCAGTGCCC
n.3643+245_4075delinsAATGTTTAAAGATAATTTATTCTATAGAGTGCATTCTTGCACTCTATAGGTGACAGAAAAACAAACTGTGCTTTAAATACCAAACAAGTAAATCAGAAAGCTTATTTTCTATTTAAAATATATCTAAGACACACTTATATAAAAAGAAAACAGACCCTCCTAACATGTAACATTACCGTTCGTGGCAATTGTTCTCAACCTTTCACTCTCCTTTTGACCTTAGCATTAAGCTCCTTTGCTCACTTCTGAGCTCTCAGTTACAGTTCTTGAGGTGGCATCCTAACCAATTTGCACTATCTTTCAGGTGAAGCGCTGGATATTTACCAGATAATTGAACTCACCAAAGGCTCCTTGGAAAAACGAAGCCAGCCTGGACCATAGCACTGCCTGGAGGCTCTGTATTTGCTCCCGTGGAGCTTCATCGGGGTGGTGCAGGCTCCCAAACTCAGGCTTTCAGCTGTGCTTTTTGCAAAAGGGCTTGCCTAAGGCCAGCCATTTTTCAGTAGCAGGACCTGCCAAGAAGATTCCTTCTAACTGAAGGTGCAGTTGAATTCAGTGGGTTCAGAACCAAGATGCCAACATCGGTGTGGACTACAGGACAAGGGGCATTGTTGCTTGTTGGGTAAAAATGAAGCAGAAGCCCCAAAGTTCACATTAACTCAGGCATTTCATTTATTTTTTCCTTTTCTTCTTGGCTGGTTCTTTGTTCTGTCCCCCATGCTCTGATGCAGTGCCC
c.3745-1_*672delinsGGGCACTGCATCAGAGCATGGGGGACAGAACAAAGAACCAGCCAAGAAGAAAAGGAAAAAATAAATGAAATGCCTGAGTTAATGTGAACTTTGGGGCTTCTGCTTCATTTTTACCCAACAAGCAACAATGCCCCTTGTCCTGTAGTCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATT
c.826+245_1258delinsAATGTTTAAAGATAATTTATTCTATAGAGTGCATTCTTGCACTCTATAGGTGACAGAAAAACAAACTGTGCTTTAAATACCAAACAAGTAAATCAGAAAGCTTATTTTCTATTTAAAATATATCTAAGACACACTTATATAAAAAGAAAACAGACCCTCCTAACATGTAACATTACCGTTCGTGGCAATTGTTCTCAACCTTTCACTCTCCTTTTGACCTTAGCATTAAGCTCCTTTGCTCACTTCTGAGCTCTCAGTTACAGTTCTTGAGGTGGCATCCTAACCAATTTGCACTATCTTTCAGGTGAAGCGCTGGATATTTACCAGATAATTGAACTCACCAAAGGCTCCTTGGAAAAACGAAGCCAGCCTGGACCATAGCACTGCCTGGAGGCTCTGTATTTGCTCCCGTGGAGCTTCATCGGGGTGGTGCAGGCTCCCAAACTCAGGCTTTCAGCTGTGCTTTTTGCAAAAGGGCTTGCCTAAGGCCAGCCATTTTTCAGTAGCAGGACCTGCCAAGAAGATTCCTTCTAACTGAAGGTGCAGTTGAATTCAGTGGGTTCAGAACCAAGATGCCAACATCGGTGTGGACTACAGGACAAGGGGCATTGTTGCTTGTTGGGTAAAAATGAAGCAGAAGCCCCAAAGTTCACATTAACTCAGGCATTTCATTTATTTTTTCCTTTTCTTCTTGGCTGGTTCTTTGTTCTGTCCCCCATGCTCTGATGCAGTGCCC
c.*3067+245_*3499delinsAATGTTTAAAGATAATTTATTCTATAGAGTGCATTCTTGCACTCTATAGGTGACAGAAAAACAAACTGTGCTTTAAATACCAAACAAGTAAATCAGAAAGCTTATTTTCTATTTAAAATATATCTAAGACACACTTATATAAAAAGAAAACAGACCCTCCTAACATGTAACATTACCGTTCGTGGCAATTGTTCTCAACCTTTCACTCTCCTTTTGACCTTAGCATTAAGCTCCTTTGCTCACTTCTGAGCTCTCAGTTACAGTTCTTGAGGTGGCATCCTAACCAATTTGCACTATCTTTCAGGTGAAGCGCTGGATATTTACCAGATAATTGAACTCACCAAAGGCTCCTTGGAAAAACGAAGCCAGCCTGGACCATAGCACTGCCTGGAGGCTCTGTATTTGCTCCCGTGGAGCTTCATCGGGGTGGTGCAGGCTCCCAAACTCAGGCTTTCAGCTGTGCTTTTTGCAAAAGGGCTTGCCTAAGGCCAGCCATTTTTCAGTAGCAGGACCTGCCAAGAAGATTCCTTCTAACTGAAGGTGCAGTTGAATTCAGTGGGTTCAGAACCAAGATGCCAACATCGGTGTGGACTACAGGACAAGGGGCATTGTTGCTTGTTGGGTAAAAATGAAGCAGAAGCCCCAAAGTTCACATTAACTCAGGCATTTCATTTATTTTTTCCTTTTCTTCTTGGCTGGTTCTTTGTTCTGTCCCCCATGCTCTGATGCAGTGCCC
c.3883-1_*672delinsGGGCACTGCATCAGAGCATGGGGGACAGAACAAAGAACCAGCCAAGAAGAAAAGGAAAAAATAAATGAAATGCCTGAGTTAATGTGAACTTTGGGGCTTCTGCTTCATTTTTACCCAACAAGCAACAATGCCCCTTGTCCTGTAGTCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATT
c.3646-1_*672delinsGGGCACTGCATCAGAGCATGGGGGACAGAACAAAGAACCAGCCAAGAAGAAAAGGAAAAAATAAATGAAATGCCTGAGTTAATGTGAACTTTGGGGCTTCTGCTTCATTTTTACCCAACAAGCAACAATGCCCCTTGTCCTGTAGTCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATT
c.3580-1_*672delinsGGGCACTGCATCAGAGCATGGGGGACAGAACAAAGAACCAGCCAAGAAGAAAAGGAAAAAATAAATGAAATGCCTGAGTTAATGTGAACTTTGGGGCTTCTGCTTCATTTTTACCCAACAAGCAACAATGCCCCTTGTCCTGTAGTCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATT
15g.89316397G>ACA393746288FANCI,POLGc.*354C>T (n.*354C>T)
c.3646G>A (p.Gly1216Ser)
c.3388G>A (p.Gly1130Ser)
c.3925G>A (p.Gly1309Ser)
n.5510G>A
c.3774C>T (n.3774C>T)
c.73+309C>T
c.*1144C>T (n.*1144C>T)
c.2982C>T (n.2982C>T)
c.3086C>T
c.3651C>T
n.5276C>T
n.1853C>T
n.4074C>T
c.4057G>A (p.Gly1353Ser)
n.3130G>A
c.3883G>A (p.Gly1295Ser)
n.3506G>A
c.3745G>A (p.Gly1249Ser)
c.*269G>A (n.*269G>A)
c.1257C>T (n.1257C>T)
c.3221G>A
n.508G>A
n.3932G>A
c.*3498C>T (n.*3498C>T)
c.3580G>A (p.Gly1194Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89316397G>CCA393746294FANCI,POLGc.*354C>G (n.*354C>G)
c.3646G>C (p.Gly1216Arg)
c.3388G>C (p.Gly1130Arg)
c.3925G>C (p.Gly1309Arg)
n.5510G>C
c.3774C>G (n.3774C>G)
c.73+309C>G
c.*1144C>G (n.*1144C>G)
c.2982C>G (n.2982C>G)
c.3086C>G
c.3651C>G
n.5276C>G
n.1853C>G
n.4074C>G
c.4057G>C (p.Gly1353Arg)
n.3130G>C
c.3883G>C (p.Gly1295Arg)
n.3506G>C
c.3745G>C (p.Gly1249Arg)
c.*269G>C (n.*269G>C)
c.1257C>G (n.1257C>G)
c.3221G>C
n.508G>C
n.3932G>C
c.*3498C>G (n.*3498C>G)
c.3580G>C (p.Gly1194Arg)
15g.89316397G=CA2194536592FANCI,POLGc.*354C= (n.*354C=)
c.3646G= (p.Gly1216=)
c.3388G= (p.Gly1130=)
c.3925G= (p.Gly1309=)
n.5510G=
c.3774C= (n.3774C=)
c.73+309C=
c.*1144C= (n.*1144C=)
c.2982C= (n.2982C=)
c.3086C=
c.3651C=
n.5276C=
n.1853C=
n.4074C=
c.4057G= (p.Gly1353=)
n.3130G=
c.3883G= (p.Gly1295=)
n.3506G=
c.3745G= (p.Gly1249=)
c.*269G= (n.*269G=)
c.1257C= (n.1257C=)
c.3221G=
n.508G=
n.3932G=
c.*3498C= (n.*3498C=)
c.3580G= (p.Gly1194=)
15g.89316397G>TCA393746291FANCI,POLGc.*354C>A (n.*354C>A)
c.3646G>T (p.Gly1216Cys)
c.3388G>T (p.Gly1130Cys)
c.3925G>T (p.Gly1309Cys)
n.5510G>T
c.3774C>A (n.3774C>A)
c.73+309C>A
c.*1144C>A (n.*1144C>A)
c.2982C>A (n.2982C>A)
c.3086C>A
c.3651C>A
n.5276C>A
n.1853C>A
n.4074C>A
c.4057G>T (p.Gly1353Cys)
n.3130G>T
c.3883G>T (p.Gly1295Cys)
n.3506G>T
c.3745G>T (p.Gly1249Cys)
c.*269G>T (n.*269G>T)
c.1257C>A (n.1257C>A)
c.3221G>T
n.508G>T
n.3932G>T
c.*3498C>A (n.*3498C>A)
c.3580G>T (p.Gly1194Cys)
15g.89316397_89317131delCA1139664132FANCI,POLGc.3643+245_*354del
c.3925_*672del (n.[c.3925_*672del;Gly1309=])
c.3343+245_3774del
c.*713+245_*1144del
c.2551+245_2982del
c.2655+245_3086del
c.3220+245_3651del
n.4845+245_5276del
n.1422+245_1853del
n.3643+245_4074del
c.3745_*672del (n.[c.3745_*672del;Gly1249SerfsTer12])
c.826+245_1257del
c.*3067+245_*3498del
c.3745_*672del (n.[c.3745_*672del;Gly1249=])
c.3883_*672del (n.[c.3883_*672del;Gly1295=])
c.3646_*672del (n.[c.3646_*672del;Gly1216=])
c.3580_*672del (n.[c.3580_*672del;Gly1194=])
 ClinVar dbSNP
15g.89316398G>ACA274537850FANCI,POLGc.*353C>T (n.*353C>T)
c.3647G>A (p.Gly1216Asp)
c.3389G>A (p.Gly1130Asp)
c.3926G>A (p.Gly1309Asp)
n.5511G>A
c.3773C>T (n.3773C>T)
c.73+308C>T
c.*1143C>T (n.*1143C>T)
c.2981C>T (n.2981C>T)
c.3085C>T
c.3650C>T
n.5275C>T
n.1852C>T
n.4073C>T
c.4058G>A (p.Gly1353Asp)
n.3131G>A
c.3884G>A (p.Gly1295Asp)
n.3507G>A
c.3746G>A (p.Gly1249Asp)
c.*270G>A (n.*270G>A)
c.1256C>T (n.1256C>T)
c.3222G>A
n.509G>A
n.3933G>A
c.*3497C>T (n.*3497C>T)
c.3581G>A (p.Gly1194Asp)
 dbSNP gnomAD v2 gnomAD v4
15g.89316398G>CCA393746300FANCI,POLGc.*353C>G (n.*353C>G)
c.3647G>C (p.Gly1216Ala)
c.3389G>C (p.Gly1130Ala)
c.3926G>C (p.Gly1309Ala)
n.5511G>C
c.3773C>G (n.3773C>G)
c.73+308C>G
c.*1143C>G (n.*1143C>G)
c.2981C>G (n.2981C>G)
c.3085C>G
c.3650C>G
n.5275C>G
n.1852C>G
n.4073C>G
c.4058G>C (p.Gly1353Ala)
n.3131G>C
c.3884G>C (p.Gly1295Ala)
n.3507G>C
c.3746G>C (p.Gly1249Ala)
c.*270G>C (n.*270G>C)
c.1256C>G (n.1256C>G)
c.3222G>C
n.509G>C
n.3933G>C
c.*3497C>G (n.*3497C>G)
c.3581G>C (p.Gly1194Ala)
15g.89316398G=CA2194536598FANCI,POLGc.*353C= (n.*353C=)
c.3647G= (p.Gly1216=)
c.3389G= (p.Gly1130=)
c.3926G= (p.Gly1309=)
n.5511G=
c.3773C= (n.3773C=)
c.73+308C=
c.*1143C= (n.*1143C=)
c.2981C= (n.2981C=)
c.3085C=
c.3650C=
n.5275C=
n.1852C=
n.4073C=
c.4058G= (p.Gly1353=)
n.3131G=
c.3884G= (p.Gly1295=)
n.3507G=
c.3746G= (p.Gly1249=)
c.*270G= (n.*270G=)
c.1256C= (n.1256C=)
c.3222G=
n.509G=
n.3933G=
c.*3497C= (n.*3497C=)
c.3581G= (p.Gly1194=)
15g.89316398G>TCA393746303FANCI,POLGc.*353C>A (n.*353C>A)
c.3647G>T (p.Gly1216Val)
c.3389G>T (p.Gly1130Val)
c.3926G>T (p.Gly1309Val)
n.5511G>T
c.3773C>A (n.3773C>A)
c.73+308C>A
c.*1143C>A (n.*1143C>A)
c.2981C>A (n.2981C>A)
c.3085C>A
c.3650C>A
n.5275C>A
n.1852C>A
n.4073C>A
c.4058G>T (p.Gly1353Val)
n.3131G>T
c.3884G>T (p.Gly1295Val)
n.3507G>T
c.3746G>T (p.Gly1249Val)
c.*270G>T (n.*270G>T)
c.1256C>A (n.1256C>A)
c.3222G>T
n.509G>T
n.3933G>T
c.*3497C>A (n.*3497C>A)
c.3581G>T (p.Gly1194Val)
15g.89316399C>ACA492069184FANCI,POLGc.*352G>T (n.*352G>T)
c.3648C>A (p.Gly1216=)
c.3390C>A (p.Gly1130=)
c.3927C>A (p.Gly1309=)
n.5512C>A
c.3772G>T (n.3772G>T)
c.73+307G>T
c.*1142G>T (n.*1142G>T)
c.2980G>T (n.2980G>T)
c.3084G>T
c.3649G>T
n.5274G>T
n.1851G>T
n.4072G>T
c.4059C>A (p.Gly1353=)
n.3132C>A
c.3885C>A (p.Gly1295=)
n.3508C>A
c.3747C>A (p.Gly1249=)
c.*271C>A (n.*271C>A)
c.1255G>T (n.1255G>T)
c.3223C>A
n.510C>A
n.3934C>A
c.*3496G>T (n.*3496G>T)
c.3582C>A (p.Gly1194=)
15g.89316399C=CA2194536601FANCI,POLGc.*352G= (n.*352G=)
c.3648C= (p.Gly1216=)
c.3390C= (p.Gly1130=)
c.3927C= (p.Gly1309=)
n.5512C=
c.3772G= (n.3772G=)
c.73+307G=
c.*1142G= (n.*1142G=)
c.2980G= (n.2980G=)
c.3084G=
c.3649G=
n.5274G=
n.1851G=
n.4072G=
c.4059C= (p.Gly1353=)
n.3132C=
c.3885C= (p.Gly1295=)
n.3508C=
c.3747C= (p.Gly1249=)
c.*271C= (n.*271C=)
c.1255G= (n.1255G=)
c.3223C=
n.510C=
n.3934C=
c.*3496G= (n.*3496G=)
c.3582C= (p.Gly1194=)
15g.89316399C>GCA492069187FANCI,POLGc.*352G>C (n.*352G>C)
c.3648C>G (p.Gly1216=)
c.3390C>G (p.Gly1130=)
c.3927C>G (p.Gly1309=)
n.5512C>G
c.3772G>C (n.3772G>C)
c.73+307G>C
c.*1142G>C (n.*1142G>C)
c.2980G>C (n.2980G>C)
c.3084G>C
c.3649G>C
n.5274G>C
n.1851G>C
n.4072G>C
c.4059C>G (p.Gly1353=)
n.3132C>G
c.3885C>G (p.Gly1295=)
n.3508C>G
c.3747C>G (p.Gly1249=)
c.*271C>G (n.*271C>G)
c.1255G>C (n.1255G>C)
c.3223C>G
n.510C>G
n.3934C>G
c.*3496G>C (n.*3496G>C)
c.3582C>G (p.Gly1194=)
15g.89316399C>TCA492069189FANCI,POLGc.*352G>A (n.*352G>A)
c.3648C>T (p.Gly1216=)
c.3390C>T (p.Gly1130=)
c.3927C>T (p.Gly1309=)
n.5512C>T
c.3772G>A (n.3772G>A)
c.73+307G>A
c.*1142G>A (n.*1142G>A)
c.2980G>A (n.2980G>A)
c.3084G>A
c.3649G>A
n.5274G>A
n.1851G>A
n.4072G>A
c.4059C>T (p.Gly1353=)
n.3132C>T
c.3885C>T (p.Gly1295=)
n.3508C>T
c.3747C>T (p.Gly1249=)
c.*271C>T (n.*271C>T)
c.1255G>A (n.1255G>A)
c.3223C>T
n.510C>T
n.3934C>T
c.*3496G>A (n.*3496G>A)
c.3582C>T (p.Gly1194=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89316399dupCA716878453FANCI,POLGc.*352dup (n.*352dup)
c.3648dup (p.Thr1217HisfsTer28)
c.3390dup (p.Thr1131HisfsTer28)
c.3927dup (p.Thr1310HisfsTer28)
n.5512dup
c.3772dup (n.3772dup)
c.73+307dup
c.*1142dup (n.*1142dup)
c.2980dup (n.2980dup)
c.3084dup
c.3649dup
n.5274dup
n.1851dup
n.4072dup
c.4059dup (p.Thr1354HisfsTer?)
n.3132dup
c.3885dup (p.Thr1296HisfsTer28)
n.3508dup
c.3747dup (p.Thr1250HisfsTer28)
c.*271dup (n.*271dup)
c.1255dup (n.1255dup)
c.3223dup
n.510dup
n.3934dup
c.*3496dup (n.*3496dup)
c.3582dup (p.Thr1195HisfsTer28)
 dbSNP gnomAD v3 gnomAD v4
15g.89316400A>CCA393746305FANCI,POLGc.*351T>G (n.*351T>G)
c.3649A>C (p.Thr1217Pro)
c.3391A>C (p.Thr1131Pro)
c.3928A>C (p.Thr1310Pro)
n.5513A>C
c.3771T>G (n.3771T>G)
c.73+306T>G
c.*1141T>G (n.*1141T>G)
c.2979T>G (n.2979T>G)
c.3083T>G
c.3648T>G
n.5273T>G
n.1850T>G
n.4071T>G
c.4060A>C (p.Thr1354Pro)
n.3133A>C
c.3886A>C (p.Thr1296Pro)
n.3509A>C
c.3748A>C (p.Thr1250Pro)
c.*272A>C (n.*272A>C)
c.1254T>G (n.1254T>G)
c.3224A>C
n.511A>C
n.3935A>C
c.*3495T>G (n.*3495T>G)
c.3583A>C (p.Thr1195Pro)
15g.89316400A>GCA393746306FANCI,POLGc.*351T>C (n.*351T>C)
c.3649A>G (p.Thr1217Ala)
c.3391A>G (p.Thr1131Ala)
c.3928A>G (p.Thr1310Ala)
n.5513A>G
c.3771T>C (n.3771T>C)
c.73+306T>C
c.*1141T>C (n.*1141T>C)
c.2979T>C (n.2979T>C)
c.3083T>C
c.3648T>C
n.5273T>C
n.1850T>C
n.4071T>C
c.4060A>G (p.Thr1354Ala)
n.3133A>G
c.3886A>G (p.Thr1296Ala)
n.3509A>G
c.3748A>G (p.Thr1250Ala)
c.*272A>G (n.*272A>G)
c.1254T>C (n.1254T>C)
c.3224A>G
n.511A>G
n.3935A>G
c.*3495T>C (n.*3495T>C)
c.3583A>G (p.Thr1195Ala)
 gnomAD v4 COSMIC COSMIC
15g.89316400A>TCA393746310FANCI,POLGc.*351T>A (n.*351T>A)
c.3649A>T (p.Thr1217Ser)
c.3391A>T (p.Thr1131Ser)
c.3928A>T (p.Thr1310Ser)
n.5513A>T
c.3771T>A (n.3771T>A)
c.73+306T>A
c.*1141T>A (n.*1141T>A)
c.2979T>A (n.2979T>A)
c.3083T>A
c.3648T>A
n.5273T>A
n.1850T>A
n.4071T>A
c.4060A>T (p.Thr1354Ser)
n.3133A>T
c.3886A>T (p.Thr1296Ser)
n.3509A>T
c.3748A>T (p.Thr1250Ser)
c.*272A>T (n.*272A>T)
c.1254T>A (n.1254T>A)
c.3224A>T
n.511A>T
n.3935A>T
c.*3495T>A (n.*3495T>A)
c.3583A>T (p.Thr1195Ser)
15g.89316401C>ACA393746312FANCI,POLGc.*350G>T (n.*350G>T)
c.3650C>A (p.Thr1217Asn)
c.3392C>A (p.Thr1131Asn)
c.3929C>A (p.Thr1310Asn)
n.5514C>A
c.3770G>T (n.3770G>T)
c.73+305G>T
c.*1140G>T (n.*1140G>T)
c.2978G>T (n.2978G>T)
c.3082G>T
c.3647G>T
n.5272G>T
n.1849G>T
n.4070G>T
c.4061C>A (p.Thr1354Asn)
n.3134C>A
c.3887C>A (p.Thr1296Asn)
n.3510C>A
c.3749C>A (p.Thr1250Asn)
c.*273C>A (n.*273C>A)
c.1253G>T (n.1253G>T)
c.3225C>A
n.512C>A
n.3936C>A
c.*3494G>T (n.*3494G>T)
c.3584C>A (p.Thr1195Asn)
15g.89316401C=CA2194536605FANCI,POLGc.*350G= (n.*350G=)
c.3650C= (p.Thr1217=)
c.3392C= (p.Thr1131=)
c.3929C= (p.Thr1310=)
n.5514C=
c.3770G= (n.3770G=)
c.73+305G=
c.*1140G= (n.*1140G=)
c.2978G= (n.2978G=)
c.3082G=
c.3647G=
n.5272G=
n.1849G=
n.4070G=
c.4061C= (p.Thr1354=)
n.3134C=
c.3887C= (p.Thr1296=)
n.3510C=
c.3749C= (p.Thr1250=)
c.*273C= (n.*273C=)
c.1253G= (n.1253G=)
c.3225C=
n.512C=
n.3936C=
c.*3494G= (n.*3494G=)
c.3584C= (p.Thr1195=)
15g.89316401C>GCA393746316FANCI,POLGc.*350G>C (n.*350G>C)
c.3650C>G (p.Thr1217Ser)
c.3392C>G (p.Thr1131Ser)
c.3929C>G (p.Thr1310Ser)
n.5514C>G
c.3770G>C (n.3770G>C)
c.73+305G>C
c.*1140G>C (n.*1140G>C)
c.2978G>C (n.2978G>C)
c.3082G>C
c.3647G>C
n.5272G>C
n.1849G>C
n.4070G>C
c.4061C>G (p.Thr1354Ser)
n.3134C>G
c.3887C>G (p.Thr1296Ser)
n.3510C>G
c.3749C>G (p.Thr1250Ser)
c.*273C>G (n.*273C>G)
c.1253G>C (n.1253G>C)
c.3225C>G
n.512C>G
n.3936C>G
c.*3494G>C (n.*3494G>C)
c.3584C>G (p.Thr1195Ser)
15g.89316401C>TCA393746319FANCI,POLGc.*350G>A (n.*350G>A)
c.3650C>T (p.Thr1217Ile)
c.3392C>T (p.Thr1131Ile)
c.3929C>T (p.Thr1310Ile)
n.5514C>T
c.3770G>A (n.3770G>A)
c.73+305G>A
c.*1140G>A (n.*1140G>A)
c.2978G>A (n.2978G>A)
c.3082G>A
c.3647G>A
n.5272G>A
n.1849G>A
n.4070G>A
c.4061C>T (p.Thr1354Ile)
n.3134C>T
c.3887C>T (p.Thr1296Ile)
n.3510C>T
c.3749C>T (p.Thr1250Ile)
c.*273C>T (n.*273C>T)
c.1253G>A (n.1253G>A)
c.3225C>T
n.512C>T
n.3936C>T
c.*3494G>A (n.*3494G>A)
c.3584C>T (p.Thr1195Ile)
 dbSNP gnomAD v3 gnomAD v4
15g.89316402T>ACA492069213FANCI,POLGc.*349A>T (n.*349A>T)
c.3651T>A (p.Thr1217=)
c.3393T>A (p.Thr1131=)
c.3930T>A (p.Thr1310=)
n.5515T>A
c.3769A>T (n.3769A>T)
c.73+304A>T
c.*1139A>T (n.*1139A>T)
c.2977A>T (n.2977A>T)
c.3081A>T
c.3646A>T
n.5271A>T
n.1848A>T
n.4069A>T
c.4062T>A (p.Thr1354=)
n.3135T>A
c.3888T>A (p.Thr1296=)
n.3511T>A
c.3750T>A (p.Thr1250=)
c.*274T>A (n.*274T>A)
c.1252A>T (n.1252A>T)
c.3226T>A
n.513T>A
n.3937T>A
c.*3493A>T (n.*3493A>T)
c.3585T>A (p.Thr1195=)
15g.89316402T>CCA492069210FANCI,POLGc.*349A>G (n.*349A>G)
c.3651T>C (p.Thr1217=)
c.3393T>C (p.Thr1131=)
c.3930T>C (p.Thr1310=)
n.5515T>C
c.3769A>G (n.3769A>G)
c.73+304A>G
c.*1139A>G (n.*1139A>G)
c.2977A>G (n.2977A>G)
c.3081A>G
c.3646A>G
n.5271A>G
n.1848A>G
n.4069A>G
c.4062T>C (p.Thr1354=)
n.3135T>C
c.3888T>C (p.Thr1296=)
n.3511T>C
c.3750T>C (p.Thr1250=)
c.*274T>C (n.*274T>C)
c.1252A>G (n.1252A>G)
c.3226T>C
n.513T>C
n.3937T>C
c.*3493A>G (n.*3493A>G)
c.3585T>C (p.Thr1195=)
15g.89316402T>GCA492069207FANCI,POLGc.*349A>C (n.*349A>C)
c.3651T>G (p.Thr1217=)
c.3393T>G (p.Thr1131=)
c.3930T>G (p.Thr1310=)
n.5515T>G
c.3769A>C (n.3769A>C)
c.73+304A>C
c.*1139A>C (n.*1139A>C)
c.2977A>C (n.2977A>C)
c.3081A>C
c.3646A>C
n.5271A>C
n.1848A>C
n.4069A>C
c.4062T>G (p.Thr1354=)
n.3135T>G
c.3888T>G (p.Thr1296=)
n.3511T>G
c.3750T>G (p.Thr1250=)
c.*274T>G (n.*274T>G)
c.1252A>C (n.1252A>C)
c.3226T>G
n.513T>G
n.3937T>G
c.*3493A>C (n.*3493A>C)
c.3585T>G (p.Thr1195=)
 gnomAD v4
15g.89316403G>ACA274537851FANCI,POLGc.*348C>T (n.*348C>T)
c.3652G>A (p.Ala1218Thr)
c.3394G>A (p.Ala1132Thr)
c.3931G>A (p.Ala1311Thr)
n.5516G>A
c.3768C>T (n.3768C>T)
c.73+303C>T
c.*1138C>T (n.*1138C>T)
c.2976C>T (n.2976C>T)
c.3080C>T
c.3645C>T
n.5270C>T
n.1847C>T
n.4068C>T
c.4063G>A (p.Ala1355Thr)
n.3136G>A
c.3889G>A (p.Ala1297Thr)
n.3512G>A
c.3751G>A (p.Ala1251Thr)
c.*275G>A (n.*275G>A)
c.1251C>T (n.1251C>T)
c.3227G>A
n.514G>A
n.3938G>A
c.*3492C>T (n.*3492C>T)
c.3586G>A (p.Ala1196Thr)
 dbSNP gnomAD v4
15g.89316403G>CCA393746325FANCI,POLGc.*348C>G (n.*348C>G)
c.3652G>C (p.Ala1218Pro)
c.3394G>C (p.Ala1132Pro)
c.3931G>C (p.Ala1311Pro)
n.5516G>C
c.3768C>G (n.3768C>G)
c.73+303C>G
c.*1138C>G (n.*1138C>G)
c.2976C>G (n.2976C>G)
c.3080C>G
c.3645C>G
n.5270C>G
n.1847C>G
n.4068C>G
c.4063G>C (p.Ala1355Pro)
n.3136G>C
c.3889G>C (p.Ala1297Pro)
n.3512G>C
c.3751G>C (p.Ala1251Pro)
c.*275G>C (n.*275G>C)
c.1251C>G (n.1251C>G)
c.3227G>C
n.514G>C
n.3938G>C
c.*3492C>G (n.*3492C>G)
c.3586G>C (p.Ala1196Pro)
15g.89316403G=CA2194536608FANCI,POLGc.*348C= (n.*348C=)
c.3652G= (p.Ala1218=)
c.3394G= (p.Ala1132=)
c.3931G= (p.Ala1311=)
n.5516G=
c.3768C= (n.3768C=)
c.73+303C=
c.*1138C= (n.*1138C=)
c.2976C= (n.2976C=)
c.3080C=
c.3645C=
n.5270C=
n.1847C=
n.4068C=
c.4063G= (p.Ala1355=)
n.3136G=
c.3889G= (p.Ala1297=)
n.3512G=
c.3751G= (p.Ala1251=)
c.*275G= (n.*275G=)
c.1251C= (n.1251C=)
c.3227G=
n.514G=
n.3938G=
c.*3492C= (n.*3492C=)
c.3586G= (p.Ala1196=)
15g.89316403G>TCA7723991FANCI,POLGc.*348C>A (n.*348C>A)
c.3652G>T (p.Ala1218Ser)
c.3394G>T (p.Ala1132Ser)
c.3931G>T (p.Ala1311Ser)
n.5516G>T
c.3768C>A (n.3768C>A)
c.73+303C>A
c.*1138C>A (n.*1138C>A)
c.2976C>A (n.2976C>A)
c.3080C>A
c.3645C>A
n.5270C>A
n.1847C>A
n.4068C>A
c.4063G>T (p.Ala1355Ser)
n.3136G>T
c.3889G>T (p.Ala1297Ser)
n.3512G>T
c.3751G>T (p.Ala1251Ser)
c.*275G>T (n.*275G>T)
c.1251C>A (n.1251C>A)
c.3227G>T
n.514G>T
n.3938G>T
c.*3492C>A (n.*3492C>A)
c.3586G>T (p.Ala1196Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89316404C>ACA393746339FANCI,POLGc.*347G>T (n.*347G>T)
c.3653C>A (p.Ala1218Glu)
c.3395C>A (p.Ala1132Glu)
c.3932C>A (p.Ala1311Glu)
n.5517C>A
c.3767G>T (n.3767G>T)
c.73+302G>T
c.*1137G>T (n.*1137G>T)
c.2975G>T (n.2975G>T)
c.3079G>T
c.3644G>T
n.5269G>T
n.1846G>T
n.4067G>T
c.4064C>A (p.Ala1355Glu)
n.3137C>A
c.3890C>A (p.Ala1297Glu)
n.3513C>A
c.3752C>A (p.Ala1251Glu)
c.*276C>A (n.*276C>A)
c.1250G>T (n.1250G>T)
c.3228C>A
n.515C>A
n.3939C>A
c.*3491G>T (n.*3491G>T)
c.3587C>A (p.Ala1196Glu)
15g.89316404C>GCA393746331FANCI,POLGc.*347G>C (n.*347G>C)
c.3653C>G (p.Ala1218Gly)
c.3395C>G (p.Ala1132Gly)
c.3932C>G (p.Ala1311Gly)
n.5517C>G
c.3767G>C (n.3767G>C)
c.73+302G>C
c.*1137G>C (n.*1137G>C)
c.2975G>C (n.2975G>C)
c.3079G>C
c.3644G>C
n.5269G>C
n.1846G>C
n.4067G>C
c.4064C>G (p.Ala1355Gly)
n.3137C>G
c.3890C>G (p.Ala1297Gly)
n.3513C>G
c.3752C>G (p.Ala1251Gly)
c.*276C>G (n.*276C>G)
c.1250G>C (n.1250G>C)
c.3228C>G
n.515C>G
n.3939C>G
c.*3491G>C (n.*3491G>C)
c.3587C>G (p.Ala1196Gly)
15g.89316404C>TCA393746335FANCI,POLGc.*347G>A (n.*347G>A)
c.3653C>T (p.Ala1218Val)
c.3395C>T (p.Ala1132Val)
c.3932C>T (p.Ala1311Val)
n.5517C>T
c.3767G>A (n.3767G>A)
c.73+302G>A
c.*1137G>A (n.*1137G>A)
c.2975G>A (n.2975G>A)
c.3079G>A
c.3644G>A
n.5269G>A
n.1846G>A
n.4067G>A
c.4064C>T (p.Ala1355Val)
n.3137C>T
c.3890C>T (p.Ala1297Val)
n.3513C>T
c.3752C>T (p.Ala1251Val)
c.*276C>T (n.*276C>T)
c.1250G>A (n.1250G>A)
c.3228C>T
n.515C>T
n.3939C>T
c.*3491G>A (n.*3491G>A)
c.3587C>T (p.Ala1196Val)
15g.89316405A=CA2194536612FANCI,POLGc.*346T= (n.*346T=)
c.3654A= (p.Ala1218=)
c.3396A= (p.Ala1132=)
c.3933A= (p.Ala1311=)
n.5518A=
c.3766T= (n.3766T=)
c.73+301T=
c.*1136T= (n.*1136T=)
c.2974T= (n.2974T=)
c.3078T=
c.3643T=
n.5268T=
n.1845T=
n.4066T=
c.4065A= (p.Ala1355=)
n.3138A=
c.3891A= (p.Ala1297=)
n.3514A=
c.3753A= (p.Ala1251=)
c.*277A= (n.*277A=)
c.1249T= (n.1249T=)
c.3229A=
n.516A=
n.3940A=
c.*3490T= (n.*3490T=)
c.3588A= (p.Ala1196=)
15g.89316405A>CCA492069220FANCI,POLGc.*346T>G (n.*346T>G)
c.3654A>C (p.Ala1218=)
c.3396A>C (p.Ala1132=)
c.3933A>C (p.Ala1311=)
n.5518A>C
c.3766T>G (n.3766T>G)
c.73+301T>G
c.*1136T>G (n.*1136T>G)
c.2974T>G (n.2974T>G)
c.3078T>G
c.3643T>G
n.5268T>G
n.1845T>G
n.4066T>G
c.4065A>C (p.Ala1355=)
n.3138A>C
c.3891A>C (p.Ala1297=)
n.3514A>C
c.3753A>C (p.Ala1251=)
c.*277A>C (n.*277A>C)
c.1249T>G (n.1249T>G)
c.3229A>C
n.516A>C
n.3940A>C
c.*3490T>G (n.*3490T>G)
c.3588A>C (p.Ala1196=)
15g.89316405A>GCA492069222FANCI,POLGc.*346T>C (n.*346T>C)
c.3654A>G (p.Ala1218=)
c.3396A>G (p.Ala1132=)
c.3933A>G (p.Ala1311=)
n.5518A>G
c.3766T>C (n.3766T>C)
c.73+301T>C
c.*1136T>C (n.*1136T>C)
c.2974T>C (n.2974T>C)
c.3078T>C
c.3643T>C
n.5268T>C
n.1845T>C
n.4066T>C
c.4065A>G (p.Ala1355=)
n.3138A>G
c.3891A>G (p.Ala1297=)
n.3514A>G
c.3753A>G (p.Ala1251=)
c.*277A>G (n.*277A>G)
c.1249T>C (n.1249T>C)
c.3229A>G
n.516A>G
n.3940A>G
c.*3490T>C (n.*3490T>C)
c.3588A>G (p.Ala1196=)
 dbSNP gnomAD v3 gnomAD v4
15g.89316405A>TCA492069223FANCI,POLGc.*346T>A (n.*346T>A)
c.3654A>T (p.Ala1218=)
c.3396A>T (p.Ala1132=)
c.3933A>T (p.Ala1311=)
n.5518A>T
c.3766T>A (n.3766T>A)
c.73+301T>A
c.*1136T>A (n.*1136T>A)
c.2974T>A (n.2974T>A)
c.3078T>A
c.3643T>A
n.5268T>A
n.1845T>A
n.4066T>A
c.4065A>T (p.Ala1355=)
n.3138A>T
c.3891A>T (p.Ala1297=)
n.3514A>T
c.3753A>T (p.Ala1251=)
c.*277A>T (n.*277A>T)
c.1249T>A (n.1249T>A)
c.3229A>T
n.516A>T
n.3940A>T
c.*3490T>A (n.*3490T>A)
c.3588A>T (p.Ala1196=)
15g.89316406T>ACA393746343FANCI,POLGc.*345A>T (n.*345A>T)
c.3655T>A (p.Ser1219Thr)
c.3397T>A (p.Ser1133Thr)
c.3934T>A (p.Ser1312Thr)
n.5519T>A
c.3765A>T (n.3765A>T)
c.73+300A>T
c.*1135A>T (n.*1135A>T)
c.2973A>T (n.2973A>T)
c.3077A>T
c.3642A>T
n.5267A>T
n.1844A>T
n.4065A>T
c.4066T>A (p.Ser1356Thr)
n.3139T>A
c.3892T>A (p.Ser1298Thr)
n.3515T>A
c.3754T>A (p.Ser1252Thr)
c.*278T>A (n.*278T>A)
c.1248A>T (n.1248A>T)
c.3230T>A
n.517T>A
n.3941T>A
c.*3489A>T (n.*3489A>T)
c.3589T>A (p.Ser1197Thr)
15g.89316406T>CCA393746347FANCI,POLGc.*345A>G (n.*345A>G)
c.3655T>C (p.Ser1219Pro)
c.3397T>C (p.Ser1133Pro)
c.3934T>C (p.Ser1312Pro)
n.5519T>C
c.3765A>G (n.3765A>G)
c.73+300A>G
c.*1135A>G (n.*1135A>G)
c.2973A>G (n.2973A>G)
c.3077A>G
c.3642A>G
n.5267A>G
n.1844A>G
n.4065A>G
c.4066T>C (p.Ser1356Pro)
n.3139T>C
c.3892T>C (p.Ser1298Pro)
n.3515T>C
c.3754T>C (p.Ser1252Pro)
c.*278T>C (n.*278T>C)
c.1248A>G (n.1248A>G)
c.3230T>C
n.517T>C
n.3941T>C
c.*3489A>G (n.*3489A>G)
c.3589T>C (p.Ser1197Pro)
 gnomAD v4
15g.89316406T>GCA393746349FANCI,POLGc.*345A>C (n.*345A>C)
c.3655T>G (p.Ser1219Ala)
c.3397T>G (p.Ser1133Ala)
c.3934T>G (p.Ser1312Ala)
n.5519T>G
c.3765A>C (n.3765A>C)
c.73+300A>C
c.*1135A>C (n.*1135A>C)
c.2973A>C (n.2973A>C)
c.3077A>C
c.3642A>C
n.5267A>C
n.1844A>C
n.4065A>C
c.4066T>G (p.Ser1356Ala)
n.3139T>G
c.3892T>G (p.Ser1298Ala)
n.3515T>G
c.3754T>G (p.Ser1252Ala)
c.*278T>G (n.*278T>G)
c.1248A>C (n.1248A>C)
c.3230T>G
n.517T>G
n.3941T>G
c.*3489A>C (n.*3489A>C)
c.3589T>G (p.Ser1197Ala)
15g.89316407C>ACA393746352FANCI,POLGc.*344G>T (n.*344G>T)
c.3656C>A (p.Ser1219Ter)
c.3398C>A (p.Ser1133Ter)
c.3935C>A (p.Ser1312Ter)
n.5520C>A
c.3764G>T (n.3764G>T)
c.73+299G>T
c.*1134G>T (n.*1134G>T)
c.2972G>T (n.2972G>T)
c.3076G>T
c.3641G>T
n.5266G>T
n.1843G>T
n.4064G>T
c.4067C>A (p.Ser1356Ter)
n.3140C>A
c.3893C>A (p.Ser1298Ter)
n.3516C>A
c.3755C>A (p.Ser1252Ter)
c.*279C>A (n.*279C>A)
c.1247G>T (n.1247G>T)
c.3231C>A
n.518C>A
n.3942C>A
c.*3488G>T (n.*3488G>T)
c.3590C>A (p.Ser1197Ter)
15g.89316407C=CA2194536613FANCI,POLGc.*344G= (n.*344G=)
c.3656C= (p.Ser1219=)
c.3398C= (p.Ser1133=)
c.3935C= (p.Ser1312=)
n.5520C=
c.3764G= (n.3764G=)
c.73+299G=
c.*1134G= (n.*1134G=)
c.2972G= (n.2972G=)
c.3076G=
c.3641G=
n.5266G=
n.1843G=
n.4064G=
c.4067C= (p.Ser1356=)
n.3140C=
c.3893C= (p.Ser1298=)
n.3516C=
c.3755C= (p.Ser1252=)
c.*279C= (n.*279C=)
c.1247G= (n.1247G=)
c.3231C=
n.518C=
n.3942C=
c.*3488G= (n.*3488G=)
c.3590C= (p.Ser1197=)
15g.89316407C>GCA393746356FANCI,POLGc.*344G>C (n.*344G>C)
c.3656C>G (p.Ser1219Ter)
c.3398C>G (p.Ser1133Ter)
c.3935C>G (p.Ser1312Ter)
n.5520C>G
c.3764G>C (n.3764G>C)
c.73+299G>C
c.*1134G>C (n.*1134G>C)
c.2972G>C (n.2972G>C)
c.3076G>C
c.3641G>C
n.5266G>C
n.1843G>C
n.4064G>C
c.4067C>G (p.Ser1356Ter)
n.3140C>G
c.3893C>G (p.Ser1298Ter)
n.3516C>G
c.3755C>G (p.Ser1252Ter)
c.*279C>G (n.*279C>G)
c.1247G>C (n.1247G>C)
c.3231C>G
n.518C>G
n.3942C>G
c.*3488G>C (n.*3488G>C)
c.3590C>G (p.Ser1197Ter)
15g.89316407C>TCA393746359FANCI,POLGc.*344G>A (n.*344G>A)
c.3656C>T (p.Ser1219Leu)
c.3398C>T (p.Ser1133Leu)
c.3935C>T (p.Ser1312Leu)
n.5520C>T
c.3764G>A (n.3764G>A)
c.73+299G>A
c.*1134G>A (n.*1134G>A)
c.2972G>A (n.2972G>A)
c.3076G>A
c.3641G>A
n.5266G>A
n.1843G>A
n.4064G>A
c.4067C>T (p.Ser1356Leu)
n.3140C>T
c.3893C>T (p.Ser1298Leu)
n.3516C>T
c.3755C>T (p.Ser1252Leu)
c.*279C>T (n.*279C>T)
c.1247G>A (n.1247G>A)
c.3231C>T
n.518C>T
n.3942C>T
c.*3488G>A (n.*3488G>A)
c.3590C>T (p.Ser1197Leu)
 dbSNP gnomAD v2 gnomAD v4
15g.89316408A>CCA492069234FANCI,POLGc.*343T>G (n.*343T>G)
c.3657A>C (p.Ser1219=)
c.3399A>C (p.Ser1133=)
c.3936A>C (p.Ser1312=)
n.5521A>C
c.3763T>G (n.3763T>G)
c.73+298T>G
c.*1133T>G (n.*1133T>G)
c.2971T>G (n.2971T>G)
c.3075T>G
c.3640T>G
n.5265T>G
n.1842T>G
n.4063T>G
c.4068A>C (p.Ser1356=)
n.3141A>C
c.3894A>C (p.Ser1298=)
n.3517A>C
c.3756A>C (p.Ser1252=)
c.*280A>C (n.*280A>C)
c.1246T>G (n.1246T>G)
c.3232A>C
n.519A>C
n.3943A>C
c.*3487T>G (n.*3487T>G)
c.3591A>C (p.Ser1197=)
15g.89316408A>GCA492069243FANCI,POLGc.*343T>C (n.*343T>C)
c.3657A>G (p.Ser1219=)
c.3399A>G (p.Ser1133=)
c.3936A>G (p.Ser1312=)
n.5521A>G
c.3763T>C (n.3763T>C)
c.73+298T>C
c.*1133T>C (n.*1133T>C)
c.2971T>C (n.2971T>C)
c.3075T>C
c.3640T>C
n.5265T>C
n.1842T>C
n.4063T>C
c.4068A>G (p.Ser1356=)
n.3141A>G
c.3894A>G (p.Ser1298=)
n.3517A>G
c.3756A>G (p.Ser1252=)
c.*280A>G (n.*280A>G)
c.1246T>C (n.1246T>C)
c.3232A>G
n.519A>G
n.3943A>G
c.*3487T>C (n.*3487T>C)
c.3591A>G (p.Ser1197=)
15g.89316408A>TCA492069238FANCI,POLGc.*343T>A (n.*343T>A)
c.3657A>T (p.Ser1219=)
c.3399A>T (p.Ser1133=)
c.3936A>T (p.Ser1312=)
n.5521A>T
c.3763T>A (n.3763T>A)
c.73+298T>A
c.*1133T>A (n.*1133T>A)
c.2971T>A (n.2971T>A)
c.3075T>A
c.3640T>A
n.5265T>A
n.1842T>A
n.4063T>A
c.4068A>T (p.Ser1356=)
n.3141A>T
c.3894A>T (p.Ser1298=)
n.3517A>T
c.3756A>T (p.Ser1252=)
c.*280A>T (n.*280A>T)
c.1246T>A (n.1246T>A)
c.3232A>T
n.519A>T
n.3943A>T
c.*3487T>A (n.*3487T>A)
c.3591A>T (p.Ser1197=)
15g.89316409G>ACA393746365FANCI,POLGc.*342C>T (n.*342C>T)
c.3658G>A (p.Glu1220Lys)
c.3400G>A (p.Glu1134Lys)
c.3937G>A (p.Glu1313Lys)
n.5522G>A
c.3762C>T (n.3762C>T)
c.73+297C>T
c.*1132C>T (n.*1132C>T)
c.2970C>T (n.2970C>T)
c.3074C>T
c.3639C>T
n.5264C>T
n.1841C>T
n.4062C>T
c.4069G>A (p.Glu1357Lys)
n.3142G>A
c.3895G>A (p.Glu1299Lys)
n.3518G>A
c.3757G>A (p.Glu1253Lys)
c.*281G>A (n.*281G>A)
c.1245C>T (n.1245C>T)
c.3233G>A
n.520G>A
n.3944G>A
c.*3486C>T (n.*3486C>T)
c.3592G>A (p.Glu1198Lys)
15g.89316409G>CCA393746368FANCI,POLGc.*342C>G (n.*342C>G)
c.3658G>C (p.Glu1220Gln)
c.3400G>C (p.Glu1134Gln)
c.3937G>C (p.Glu1313Gln)
n.5522G>C
c.3762C>G (n.3762C>G)
c.73+297C>G
c.*1132C>G (n.*1132C>G)
c.2970C>G (n.2970C>G)
c.3074C>G
c.3639C>G
n.5264C>G
n.1841C>G
n.4062C>G
c.4069G>C (p.Glu1357Gln)
n.3142G>C
c.3895G>C (p.Glu1299Gln)
n.3518G>C
c.3757G>C (p.Glu1253Gln)
c.*281G>C (n.*281G>C)
c.1245C>G (n.1245C>G)
c.3233G>C
n.520G>C
n.3944G>C
c.*3486C>G (n.*3486C>G)
c.3592G>C (p.Glu1198Gln)
15g.89316409G>TCA393746371FANCI,POLGc.*342C>A (n.*342C>A)
c.3658G>T (p.Glu1220Ter)
c.3400G>T (p.Glu1134Ter)
c.3937G>T (p.Glu1313Ter)
n.5522G>T
c.3762C>A (n.3762C>A)
c.73+297C>A
c.*1132C>A (n.*1132C>A)
c.2970C>A (n.2970C>A)
c.3074C>A
c.3639C>A
n.5264C>A
n.1841C>A
n.4062C>A
c.4069G>T (p.Glu1357Ter)
n.3142G>T
c.3895G>T (p.Glu1299Ter)
n.3518G>T
c.3757G>T (p.Glu1253Ter)
c.*281G>T (n.*281G>T)
c.1245C>A (n.1245C>A)
c.3233G>T
n.520G>T
n.3944G>T
c.*3486C>A (n.*3486C>A)
c.3592G>T (p.Glu1198Ter)

Number of alleles fetched