Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.1290034_1290197delinsGTTTTGTTTTGTGTTTTTGTTTTGTTTTGTGTTTTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTCA2411810525CSF2RAc.474-303_474-140delinsGTTTTGTTTTGTGTTTTTGTTTTGTTTTGTGTTTTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT (n.474-303_474-140delinsGTTTTGTTTTGTGTTTTTGTTTTGTTTTGTGTTTTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT)
c.*557-303_*557-140delinsGTTTTGTTTTGTGTTTTTGTTTTGTTTTGTGTTTTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT (n.*557-303_*557-140delinsGTTTTGTTTTGTGTTTTTGTTTTGTTTTGTGTTTTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT)
n.511-303_511-140delinsGTTTTGTTTTGTGTTTTTGTTTTGTTTTGTGTTTTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT
c.244+2836_244+2999delinsGTTTTGTTTTGTGTTTTTGTTTTGTTTTGTGTTTTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT (n.244+2836_244+2999delinsGTTTTGTTTTGTGTTTTTGTTTTGTTTTGTGTTTTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT)
c.75-303_75-140delinsGTTTTGTTTTGTGTTTTTGTTTTGTTTTGTGTTTTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT (n.75-303_75-140delinsGTTTTGTTTTGTGTTTTTGTTTTGTTTTGTGTTTTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT)
c.342-303_342-140delinsGTTTTGTTTTGTGTTTTTGTTTTGTTTTGTGTTTTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT (n.342-303_342-140delinsGTTTTGTTTTGTGTTTTTGTTTTGTTTTGTGTTTTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT)
Xg.1290059_1290221delCA1130406095CSF2RAc.474-278_474-116del (n.474-278_474-116del)
c.*557-278_*557-116del (n.*557-278_*557-116del)
n.511-278_511-116del
c.244+2861_244+3023del (n.244+2861_244+3023del)
c.75-278_75-116del (n.75-278_75-116del)
c.342-278_342-116del (n.342-278_342-116del)
dbSNP gnomAD v3 gnomAD v4
Xg.1290068_1290228delinsTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTGCA2411810567CSF2RAc.474-269_474-109delinsTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTG (n.474-269_474-109delinsTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTG)
c.*557-269_*557-109delinsTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTG (n.*557-269_*557-109delinsTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTG)
n.511-269_511-109delinsTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTG
c.244+2870_244+3030delinsTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTG (n.244+2870_244+3030delinsTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTG)
c.75-269_75-109delinsTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTG (n.75-269_75-109delinsTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTG)
c.342-269_342-109delinsTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTG (n.342-269_342-109delinsTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTG)
Xg.1290071_1290230delCA1130406171CSF2RAc.474-266_474-107del (n.474-266_474-107del)
c.*557-266_*557-107del (n.*557-266_*557-107del)
n.511-266_511-107del
c.244+2873_244+3032del (n.244+2873_244+3032del)
c.75-266_75-107del (n.75-266_75-107del)
c.342-266_342-107del (n.342-266_342-107del)
dbSNP gnomAD v3 gnomAD v4
Xg.1290071_1290231delinsATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTGTGTCA2411810570CSF2RAc.474-266_474-106delinsATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTGTGT (n.474-266_474-106delinsATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTGTGT)
c.*557-266_*557-106delinsATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTGTGT (n.*557-266_*557-106delinsATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTGTGT)
n.511-266_511-106delinsATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTGTGT
c.244+2873_244+3033delinsATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTGTGT (n.244+2873_244+3033delinsATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTGTGT)
c.75-266_75-106delinsATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTGTGT (n.75-266_75-106delinsATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTGTGT)
c.342-266_342-106delinsATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTGTGT (n.342-266_342-106delinsATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTGTGT)
Xg.1290114_1290273delCA1130406188CSF2RAc.474-223_474-64del (n.474-223_474-64del)
c.*557-223_*557-64del (n.*557-223_*557-64del)
n.511-223_511-64del
c.244+2916_244+3075del (n.244+2916_244+3075del)
c.75-223_75-64del (n.75-223_75-64del)
c.342-223_342-64del (n.342-223_342-64del)
dbSNP gnomAD v3 gnomAD v4
Xg.1290127_1290188delCA1130406272CSF2RAc.474-210_474-149del (n.474-210_474-149del)
c.*557-210_*557-149del (n.*557-210_*557-149del)
n.511-210_511-149del
c.244+2929_244+2990del (n.244+2929_244+2990del)
c.75-210_75-149del (n.75-210_75-149del)
c.342-210_342-149del (n.342-210_342-149del)
gnomAD v3 gnomAD v4
Xg.1290119_1290167delCA640152971CSF2RAc.474-218_474-170del (n.474-218_474-170del)
c.*557-218_*557-170del (n.*557-218_*557-170del)
n.511-218_511-170del
c.244+2921_244+2969del (n.244+2921_244+2969del)
c.75-218_75-170del (n.75-218_75-170del)
c.342-218_342-170del (n.342-218_342-170del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290151_1290164delinsGTTTTGTTTTGTGTCA2411810649CSF2RAc.474-186_474-173delinsGTTTTGTTTTGTGT (n.474-186_474-173delinsGTTTTGTTTTGTGT)
c.*557-186_*557-173delinsGTTTTGTTTTGTGT (n.*557-186_*557-173delinsGTTTTGTTTTGTGT)
n.511-186_511-173delinsGTTTTGTTTTGTGT
c.244+2953_244+2966delinsGTTTTGTTTTGTGT (n.244+2953_244+2966delinsGTTTTGTTTTGTGT)
c.75-186_75-173delinsGTTTTGTTTTGTGT (n.75-186_75-173delinsGTTTTGTTTTGTGT)
c.342-186_342-173delinsGTTTTGTTTTGTGT (n.342-186_342-173delinsGTTTTGTTTTGTGT)
Xg.1290151_1290197delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTCA2411810648CSF2RAc.474-186_474-140delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT (n.474-186_474-140delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT)
c.*557-186_*557-140delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT (n.*557-186_*557-140delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT)
n.511-186_511-140delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT
c.244+2953_244+2999delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT (n.244+2953_244+2999delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT)
c.75-186_75-140delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT (n.75-186_75-140delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT)
c.342-186_342-140delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT (n.342-186_342-140delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTT)
Xg.1290151_1290210delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTCA2411810647CSF2RAc.474-186_474-127delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGT (n.474-186_474-127delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGT)
c.*557-186_*557-127delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGT (n.*557-186_*557-127delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGT)
n.511-186_511-127delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGT
c.244+2953_244+3012delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGT (n.244+2953_244+3012delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGT)
c.75-186_75-127delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGT (n.75-186_75-127delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGT)
c.342-186_342-127delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGT (n.342-186_342-127delinsGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGT)
Xg.1290168_1290180delCA640152977CSF2RAc.474-169_474-157del (n.474-169_474-157del)
c.*557-169_*557-157del (n.*557-169_*557-157del)
n.511-169_511-157del
c.244+2970_244+2982del (n.244+2970_244+2982del)
c.75-169_75-157del (n.75-169_75-157del)
c.342-169_342-157del (n.342-169_342-157del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290181_1290226delCA640152975CSF2RAc.474-156_474-111del (n.474-156_474-111del)
c.*557-156_*557-111del (n.*557-156_*557-111del)
n.511-156_511-111del
c.244+2983_244+3028del (n.244+2983_244+3028del)
c.75-156_75-111del (n.75-156_75-111del)
c.342-156_342-111del (n.342-156_342-111del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290171_1290229delCA1130406418CSF2RAc.474-166_474-108del (n.474-166_474-108del)
c.*557-166_*557-108del (n.*557-166_*557-108del)
n.511-166_511-108del
c.244+2973_244+3031del (n.244+2973_244+3031del)
c.75-166_75-108del (n.75-166_75-108del)
c.342-166_342-108del (n.342-166_342-108del)
dbSNP
Xg.1290161_1290167delinsGTGTTTTCA2411810653CSF2RAc.474-176_474-170delinsGTGTTTT (n.474-176_474-170delinsGTGTTTT)
c.*557-176_*557-170delinsGTGTTTT (n.*557-176_*557-170delinsGTGTTTT)
n.511-176_511-170delinsGTGTTTT
c.244+2963_244+2969delinsGTGTTTT (n.244+2963_244+2969delinsGTGTTTT)
c.75-176_75-170delinsGTGTTTT (n.75-176_75-170delinsGTGTTTT)
c.342-176_342-170delinsGTGTTTT (n.342-176_342-170delinsGTGTTTT)
Xg.1290163_1290165delCA2819390882CSF2RAc.474-174_474-172del (n.474-174_474-172del)
c.*557-174_*557-172del (n.*557-174_*557-172del)
n.511-174_511-172del
c.244+2965_244+2967del (n.244+2965_244+2967del)
c.75-174_75-172del (n.75-174_75-172del)
c.342-174_342-172del (n.342-174_342-172del)
Xg.1290168_1290173delCA2411810654CSF2RAc.474-169_474-164del (n.474-169_474-164del)
c.*557-169_*557-164del (n.*557-169_*557-164del)
n.511-169_511-164del
c.244+2970_244+2975del (n.244+2970_244+2975del)
c.75-169_75-164del (n.75-169_75-164del)
c.342-169_342-164del (n.342-169_342-164del)
dbSNP
Xg.1290163G>TCA2556462141CSF2RAc.474-174G>T (n.474-174G>T)
c.*557-174G>T (n.*557-174G>T)
n.511-174G>T
c.244+2965G>T (n.244+2965G>T)
c.75-174G>T (n.75-174G>T)
c.342-174G>T (n.342-174G>T)
Xg.1290164T>CCA2411810655CSF2RAc.474-173T>C (n.474-173T>C)
c.*557-173T>C (n.*557-173T>C)
n.511-173T>C
c.244+2966T>C (n.244+2966T>C)
c.75-173T>C (n.75-173T>C)
c.342-173T>C (n.342-173T>C)
dbSNP
Xg.1290164T=CA2411810656CSF2RAc.474-173T= (n.474-173T=)
c.*557-173T= (n.*557-173T=)
n.511-173T=
c.244+2966T= (n.244+2966T=)
c.75-173T= (n.75-173T=)
c.342-173T= (n.342-173T=)
Xg.1290165_1290169delinsTTTTGCA2411810657CSF2RAc.474-172_474-168delinsTTTTG (n.474-172_474-168delinsTTTTG)
c.*557-172_*557-168delinsTTTTG (n.*557-172_*557-168delinsTTTTG)
n.511-172_511-168delinsTTTTG
c.244+2967_244+2971delinsTTTTG (n.244+2967_244+2971delinsTTTTG)
c.75-172_75-168delinsTTTTG (n.75-172_75-168delinsTTTTG)
c.342-172_342-168delinsTTTTG (n.342-172_342-168delinsTTTTG)
Xg.1290169_1290172delCA2411810658CSF2RAc.474-168_474-165del (n.474-168_474-165del)
c.*557-168_*557-165del (n.*557-168_*557-165del)
n.511-168_511-165del
c.244+2971_244+2974del (n.244+2971_244+2974del)
c.75-168_75-165del (n.75-168_75-165del)
c.342-168_342-165del (n.342-168_342-165del)
dbSNP
Xg.1290167T>CCA2411810660CSF2RAc.474-170T>C (n.474-170T>C)
c.*557-170T>C (n.*557-170T>C)
n.511-170T>C
c.244+2969T>C (n.244+2969T>C)
c.75-170T>C (n.75-170T>C)
c.342-170T>C (n.342-170T>C)
dbSNP
Xg.1290167T=CA2411810661CSF2RAc.474-170T= (n.474-170T=)
c.*557-170T= (n.*557-170T=)
n.511-170T=
c.244+2969T= (n.244+2969T=)
c.75-170T= (n.75-170T=)
c.342-170T= (n.342-170T=)
Xg.1290167_1290174delinsTTGTTTTGCA2411810659CSF2RAc.474-170_474-163delinsTTGTTTTG (n.474-170_474-163delinsTTGTTTTG)
c.*557-170_*557-163delinsTTGTTTTG (n.*557-170_*557-163delinsTTGTTTTG)
n.511-170_511-163delinsTTGTTTTG
c.244+2969_244+2976delinsTTGTTTTG (n.244+2969_244+2976delinsTTGTTTTG)
c.75-170_75-163delinsTTGTTTTG (n.75-170_75-163delinsTTGTTTTG)
c.342-170_342-163delinsTTGTTTTG (n.342-170_342-163delinsTTGTTTTG)
Xg.1290168T>CCA2411810663CSF2RAc.474-169T>C (n.474-169T>C)
c.*557-169T>C (n.*557-169T>C)
n.511-169T>C
c.244+2970T>C (n.244+2970T>C)
c.75-169T>C (n.75-169T>C)
c.342-169T>C (n.342-169T>C)
dbSNP
Xg.1290168T=CA2411810662CSF2RAc.474-169T= (n.474-169T=)
c.*557-169T= (n.*557-169T=)
n.511-169T=
c.244+2970T= (n.244+2970T=)
c.75-169T= (n.75-169T=)
c.342-169T= (n.342-169T=)
Xg.1290181_1290187dupCA1130406430CSF2RAc.474-156_474-150dup (n.474-156_474-150dup)
c.*557-156_*557-150dup (n.*557-156_*557-150dup)
n.511-156_511-150dup
c.244+2983_244+2989dup (n.244+2983_244+2989dup)
c.75-156_75-150dup (n.75-156_75-150dup)
c.342-156_342-150dup (n.342-156_342-150dup)
dbSNP gnomAD v3 gnomAD v4
Xg.1290181_1290187delCA871305425CSF2RAc.474-156_474-150del (n.474-156_474-150del)
c.*557-156_*557-150del (n.*557-156_*557-150del)
n.511-156_511-150del
c.244+2983_244+2989del (n.244+2983_244+2989del)
c.75-156_75-150del (n.75-156_75-150del)
c.342-156_342-150del (n.342-156_342-150del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290169G>ACA2411810665CSF2RAc.474-168G>A (n.474-168G>A)
c.*557-168G>A (n.*557-168G>A)
n.511-168G>A
c.244+2971G>A (n.244+2971G>A)
c.75-168G>A (n.75-168G>A)
c.342-168G>A (n.342-168G>A)
dbSNP
Xg.1290169G=CA2411810664CSF2RAc.474-168G= (n.474-168G=)
c.*557-168G= (n.*557-168G=)
n.511-168G=
c.244+2971G= (n.244+2971G=)
c.75-168G= (n.75-168G=)
c.342-168G= (n.342-168G=)
Xg.1290169G>TCA871305431CSF2RAc.474-168G>T (n.474-168G>T)
c.*557-168G>T (n.*557-168G>T)
n.511-168G>T
c.244+2971G>T (n.244+2971G>T)
c.75-168G>T (n.75-168G>T)
c.342-168G>T (n.342-168G>T)
dbSNP
Xg.1290170T>GCA871305438CSF2RAc.474-167T>G (n.474-167T>G)
c.*557-167T>G (n.*557-167T>G)
n.511-167T>G
c.244+2972T>G (n.244+2972T>G)
c.75-167T>G (n.75-167T>G)
c.342-167T>G (n.342-167T>G)
dbSNP
Xg.1290170T=CA2411810667CSF2RAc.474-167T= (n.474-167T=)
c.*557-167T= (n.*557-167T=)
n.511-167T=
c.244+2972T= (n.244+2972T=)
c.75-167T= (n.75-167T=)
c.342-167T= (n.342-167T=)
Xg.1290170_1290171insGTTCA2411810666CSF2RAc.474-167_474-166insGTT (n.474-167_474-166insGTT)
c.*557-167_*557-166insGTT (n.*557-167_*557-166insGTT)
n.511-167_511-166insGTT
c.244+2972_244+2973insGTT (n.244+2972_244+2973insGTT)
c.75-167_75-166insGTT (n.75-167_75-166insGTT)
c.342-167_342-166insGTT (n.342-167_342-166insGTT)
dbSNP
Xg.1290192_1290245delCA1130406434CSF2RAc.474-145_474-92del (n.474-145_474-92del)
c.*557-145_*557-92del (n.*557-145_*557-92del)
n.511-145_511-92del
c.244+2994_244+3047del (n.244+2994_244+3047del)
c.75-145_75-92del (n.75-145_75-92del)
c.342-145_342-92del (n.342-145_342-92del)
gnomAD v3 gnomAD v4
Xg.1290171T>GCA1130406455CSF2RAc.474-166T>G (n.474-166T>G)
c.*557-166T>G (n.*557-166T>G)
n.511-166T>G
c.244+2973T>G (n.244+2973T>G)
c.75-166T>G (n.75-166T>G)
c.342-166T>G (n.342-166T>G)
dbSNP gnomAD v3 gnomAD v4
Xg.1290171T=CA2411810668CSF2RAc.474-166T= (n.474-166T=)
c.*557-166T= (n.*557-166T=)
n.511-166T=
c.244+2973T= (n.244+2973T=)
c.75-166T= (n.75-166T=)
c.342-166T= (n.342-166T=)
Xg.1290174G=CA2411810669CSF2RAc.474-163G= (n.474-163G=)
c.*557-163G= (n.*557-163G=)
n.511-163G=
c.244+2976G= (n.244+2976G=)
c.75-163G= (n.75-163G=)
c.342-163G= (n.342-163G=)
Xg.1290174G>TCA871305441CSF2RAc.474-163G>T (n.474-163G>T)
c.*557-163G>T (n.*557-163G>T)
n.511-163G>T
c.244+2976G>T (n.244+2976G>T)
c.75-163G>T (n.75-163G>T)
c.342-163G>T (n.342-163G>T)
dbSNP gnomAD v3 gnomAD v4
Xg.1290175T>ACA1130406462CSF2RAc.474-162T>A (n.474-162T>A)
c.*557-162T>A (n.*557-162T>A)
n.511-162T>A
c.244+2977T>A (n.244+2977T>A)
c.75-162T>A (n.75-162T>A)
c.342-162T>A (n.342-162T>A)
dbSNP gnomAD v3 gnomAD v4
Xg.1290175T=CA2411810671CSF2RAc.474-162T= (n.474-162T=)
c.*557-162T= (n.*557-162T=)
n.511-162T=
c.244+2977T= (n.244+2977T=)
c.75-162T= (n.75-162T=)
c.342-162T= (n.342-162T=)
Xg.1290175_1290176insTTCATCA2411810670CSF2RAc.474-162_474-161insTTCAT (n.474-162_474-161insTTCAT)
c.*557-162_*557-161insTTCAT (n.*557-162_*557-161insTTCAT)
n.511-162_511-161insTTCAT
c.244+2977_244+2978insTTCAT (n.244+2977_244+2978insTTCAT)
c.75-162_75-161insTTCAT (n.75-162_75-161insTTCAT)
c.342-162_342-161insTTCAT (n.342-162_342-161insTTCAT)
dbSNP
Xg.1290176G=CA2411810673CSF2RAc.474-161G= (n.474-161G=)
c.*557-161G= (n.*557-161G=)
n.511-161G=
c.244+2978G= (n.244+2978G=)
c.75-161G= (n.75-161G=)
c.342-161G= (n.342-161G=)
Xg.1290176G>TCA2411810674CSF2RAc.474-161G>T (n.474-161G>T)
c.*557-161G>T (n.*557-161G>T)
n.511-161G>T
c.244+2978G>T (n.244+2978G>T)
c.75-161G>T (n.75-161G>T)
c.342-161G>T (n.342-161G>T)
dbSNP
Xg.1290176_1290223delinsGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTCA2411810672CSF2RAc.474-161_474-114delinsGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGT (n.474-161_474-114delinsGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGT)
c.*557-161_*557-114delinsGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGT (n.*557-161_*557-114delinsGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGT)
n.511-161_511-114delinsGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGT
c.244+2978_244+3025delinsGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGT (n.244+2978_244+3025delinsGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGT)
c.75-161_75-114delinsGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGT (n.75-161_75-114delinsGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGT)
c.342-161_342-114delinsGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGT (n.342-161_342-114delinsGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGT)
Xg.1290177T>CCA640152979CSF2RAc.474-160T>C (n.474-160T>C)
c.*557-160T>C (n.*557-160T>C)
n.511-160T>C
c.244+2979T>C (n.244+2979T>C)
c.75-160T>C (n.75-160T>C)
c.342-160T>C (n.342-160T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290177T>GCA2411810676CSF2RAc.474-160T>G (n.474-160T>G)
c.*557-160T>G (n.*557-160T>G)
n.511-160T>G
c.244+2979T>G (n.244+2979T>G)
c.75-160T>G (n.75-160T>G)
c.342-160T>G (n.342-160T>G)
dbSNP
Xg.1290177T=CA2411810675CSF2RAc.474-160T= (n.474-160T=)
c.*557-160T= (n.*557-160T=)
n.511-160T=
c.244+2979T= (n.244+2979T=)
c.75-160T= (n.75-160T=)
c.342-160T= (n.342-160T=)
Xg.1290180dupCA2819390883CSF2RAc.474-157dup (n.474-157dup)
c.*557-157dup (n.*557-157dup)
n.511-157dup
c.244+2982dup (n.244+2982dup)
c.75-157dup (n.75-157dup)
c.342-157dup (n.342-157dup)
Xg.1290188_1290234delCA640152978CSF2RAc.474-149_474-103del (n.474-149_474-103del)
c.*557-149_*557-103del (n.*557-149_*557-103del)
n.511-149_511-103del
c.244+2990_244+3036del (n.244+2990_244+3036del)
c.75-149_75-103del (n.75-149_75-103del)
c.342-149_342-103del (n.342-149_342-103del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290178T>ACA871305456CSF2RAc.474-159T>A (n.474-159T>A)
c.*557-159T>A (n.*557-159T>A)
n.511-159T>A
c.244+2980T>A (n.244+2980T>A)
c.75-159T>A (n.75-159T>A)
c.342-159T>A (n.342-159T>A)
dbSNP gnomAD v3 gnomAD v4
Xg.1290178T>GCA871305461CSF2RAc.474-159T>G (n.474-159T>G)
c.*557-159T>G (n.*557-159T>G)
n.511-159T>G
c.244+2980T>G (n.244+2980T>G)
c.75-159T>G (n.75-159T>G)
c.342-159T>G (n.342-159T>G)
dbSNP
Xg.1290178T=CA2411810677CSF2RAc.474-159T= (n.474-159T=)
c.*557-159T= (n.*557-159T=)
n.511-159T=
c.244+2980T= (n.244+2980T=)
c.75-159T= (n.75-159T=)
c.342-159T= (n.342-159T=)
Xg.1290181G>ACA1130406475CSF2RAc.474-156G>A (n.474-156G>A)
c.*557-156G>A (n.*557-156G>A)
n.511-156G>A
c.244+2983G>A (n.244+2983G>A)
c.75-156G>A (n.75-156G>A)
c.342-156G>A (n.342-156G>A)
dbSNP gnomAD v3 gnomAD v4
Xg.1290181G>CCA2411810679CSF2RAc.474-156G>C (n.474-156G>C)
c.*557-156G>C (n.*557-156G>C)
n.511-156G>C
c.244+2983G>C (n.244+2983G>C)
c.75-156G>C (n.75-156G>C)
c.342-156G>C (n.342-156G>C)
dbSNP
Xg.1290181G=CA2411810678CSF2RAc.474-156G= (n.474-156G=)
c.*557-156G= (n.*557-156G=)
n.511-156G=
c.244+2983G= (n.244+2983G=)
c.75-156G= (n.75-156G=)
c.342-156G= (n.342-156G=)
Xg.1290182T>ACA325917369CSF2RAc.474-155T>A (n.474-155T>A)
c.*557-155T>A (n.*557-155T>A)
n.511-155T>A
c.244+2984T>A (n.244+2984T>A)
c.75-155T>A (n.75-155T>A)
c.342-155T>A (n.342-155T>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290182T=CA2411810680CSF2RAc.474-155T= (n.474-155T=)
c.*557-155T= (n.*557-155T=)
n.511-155T=
c.244+2984T= (n.244+2984T=)
c.75-155T= (n.75-155T=)
c.342-155T= (n.342-155T=)
Xg.1290183G=CA2411810681CSF2RAc.474-154G= (n.474-154G=)
c.*557-154G= (n.*557-154G=)
n.511-154G=
c.244+2985G= (n.244+2985G=)
c.75-154G= (n.75-154G=)
c.342-154G= (n.342-154G=)
Xg.1290183G>TCA871305473CSF2RAc.474-154G>T (n.474-154G>T)
c.*557-154G>T (n.*557-154G>T)
n.511-154G>T
c.244+2985G>T (n.244+2985G>T)
c.75-154G>T (n.75-154G>T)
c.342-154G>T (n.342-154G>T)
dbSNP
Xg.1290184T>GCA871305475CSF2RAc.474-153T>G (n.474-153T>G)
c.*557-153T>G (n.*557-153T>G)
n.511-153T>G
c.244+2986T>G (n.244+2986T>G)
c.75-153T>G (n.75-153T>G)
c.342-153T>G (n.342-153T>G)
dbSNP
Xg.1290184T=CA2411810682CSF2RAc.474-153T= (n.474-153T=)
c.*557-153T= (n.*557-153T=)
n.511-153T=
c.244+2986T= (n.244+2986T=)
c.75-153T= (n.75-153T=)
c.342-153T= (n.342-153T=)
Xg.1290185T>GCA2692961232CSF2RAc.474-152T>G (n.474-152T>G)
c.*557-152T>G (n.*557-152T>G)
n.511-152T>G
c.244+2987T>G (n.244+2987T>G)
c.75-152T>G (n.75-152T>G)
c.342-152T>G (n.342-152T>G)
gnomAD v4
Xg.1290186T>CCA2692961233CSF2RAc.474-151T>C (n.474-151T>C)
c.*557-151T>C (n.*557-151T>C)
n.511-151T>C
c.244+2988T>C (n.244+2988T>C)
c.75-151T>C (n.75-151T>C)
c.342-151T>C (n.342-151T>C)
gnomAD v4
Xg.1290186T>GCA2692961234CSF2RAc.474-151T>G (n.474-151T>G)
c.*557-151T>G (n.*557-151T>G)
n.511-151T>G
c.244+2988T>G (n.244+2988T>G)
c.75-151T>G (n.75-151T>G)
c.342-151T>G (n.342-151T>G)
gnomAD v4
Xg.1290186_1290192delinsTTTGTGGCA2411810683CSF2RAc.474-151_474-145delinsTTTGTGG (n.474-151_474-145delinsTTTGTGG)
c.*557-151_*557-145delinsTTTGTGG (n.*557-151_*557-145delinsTTTGTGG)
n.511-151_511-145delinsTTTGTGG
c.244+2988_244+2994delinsTTTGTGG (n.244+2988_244+2994delinsTTTGTGG)
c.75-151_75-145delinsTTTGTGG (n.75-151_75-145delinsTTTGTGG)
c.342-151_342-145delinsTTTGTGG (n.342-151_342-145delinsTTTGTGG)
Xg.1290187T>CCA640152980CSF2RAc.474-150T>C (n.474-150T>C)
c.*557-150T>C (n.*557-150T>C)
n.511-150T>C
c.244+2989T>C (n.244+2989T>C)
c.75-150T>C (n.75-150T>C)
c.342-150T>C (n.342-150T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290187T=CA2411810684CSF2RAc.474-150T= (n.474-150T=)
c.*557-150T= (n.*557-150T=)
n.511-150T=
c.244+2989T= (n.244+2989T=)
c.75-150T= (n.75-150T=)
c.342-150T= (n.342-150T=)
Xg.1290187_1290192delCA871305493CSF2RAc.474-150_474-145del (n.474-150_474-145del)
c.*557-150_*557-145del (n.*557-150_*557-145del)
n.511-150_511-145del
c.244+2989_244+2994del (n.244+2989_244+2994del)
c.75-150_75-145del (n.75-150_75-145del)
c.342-150_342-145del (n.342-150_342-145del)
dbSNP
Xg.1290188T>GCA2692961235CSF2RAc.474-149T>G (n.474-149T>G)
c.*557-149T>G (n.*557-149T>G)
n.511-149T>G
c.244+2990T>G (n.244+2990T>G)
c.75-149T>G (n.75-149T>G)
c.342-149T>G (n.342-149T>G)
gnomAD v4
Xg.1290189G=CA2411810685CSF2RAc.474-148G= (n.474-148G=)
c.*557-148G= (n.*557-148G=)
n.511-148G=
c.244+2991G= (n.244+2991G=)
c.75-148G= (n.75-148G=)
c.342-148G= (n.342-148G=)
Xg.1290189G>TCA640152981CSF2RAc.474-148G>T (n.474-148G>T)
c.*557-148G>T (n.*557-148G>T)
n.511-148G>T
c.244+2991G>T (n.244+2991G>T)
c.75-148G>T (n.75-148G>T)
c.342-148G>T (n.342-148G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290190T>CCA2692961236CSF2RAc.474-147T>C (n.474-147T>C)
c.*557-147T>C (n.*557-147T>C)
n.511-147T>C
c.244+2992T>C (n.244+2992T>C)
c.75-147T>C (n.75-147T>C)
c.342-147T>C (n.342-147T>C)
gnomAD v4
Xg.1290190_1290192delinsTGGCA2411810686CSF2RAc.474-147_474-145delinsTGG (n.474-147_474-145delinsTGG)
c.*557-147_*557-145delinsTGG (n.*557-147_*557-145delinsTGG)
n.511-147_511-145delinsTGG
c.244+2992_244+2994delinsTGG (n.244+2992_244+2994delinsTGG)
c.75-147_75-145delinsTGG (n.75-147_75-145delinsTGG)
c.342-147_342-145delinsTGG (n.342-147_342-145delinsTGG)
Xg.1290191G>ACA871305539CSF2RAc.474-146G>A (n.474-146G>A)
c.*557-146G>A (n.*557-146G>A)
n.511-146G>A
c.244+2993G>A (n.244+2993G>A)
c.75-146G>A (n.75-146G>A)
c.342-146G>A (n.342-146G>A)
dbSNP gnomAD v4
Xg.1290191G=CA2411810687CSF2RAc.474-146G= (n.474-146G=)
c.*557-146G= (n.*557-146G=)
n.511-146G=
c.244+2993G= (n.244+2993G=)
c.75-146G= (n.75-146G=)
c.342-146G= (n.342-146G=)
Xg.1290191G>TCA871305537CSF2RAc.474-146G>T (n.474-146G>T)
c.*557-146G>T (n.*557-146G>T)
n.511-146G>T
c.244+2993G>T (n.244+2993G>T)
c.75-146G>T (n.75-146G>T)
c.342-146G>T (n.342-146G>T)
dbSNP gnomAD v3 gnomAD v4
Xg.1290193dupCA871305500CSF2RAc.474-144dup (n.474-144dup)
c.*557-144dup (n.*557-144dup)
n.511-144dup
c.244+2995dup (n.244+2995dup)
c.75-144dup (n.75-144dup)
c.342-144dup (n.342-144dup)
dbSNP gnomAD v4
Xg.1290193delCA640360192CSF2RAc.474-144del (n.474-144del)
c.*557-144del (n.*557-144del)
n.511-144del
c.244+2995del (n.244+2995del)
c.75-144del (n.75-144del)
c.342-144del (n.342-144del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290192_1290193delCA871305503CSF2RAc.474-145_474-144del (n.474-145_474-144del)
c.*557-145_*557-144del (n.*557-145_*557-144del)
n.511-145_511-144del
c.244+2994_244+2995del (n.244+2994_244+2995del)
c.75-145_75-144del (n.75-145_75-144del)
c.342-145_342-144del (n.342-145_342-144del)
dbSNP gnomAD v4
Xg.1290191_1290192insTCA2692961237CSF2RAc.474-146_474-145insT (n.474-146_474-145insT)
c.*557-146_*557-145insT (n.*557-146_*557-145insT)
n.511-146_511-145insT
c.244+2993_244+2994insT (n.244+2993_244+2994insT)
c.75-146_75-145insT (n.75-146_75-145insT)
c.342-146_342-145insT (n.342-146_342-145insT)
gnomAD v4
Xg.1290191_1290192insTTCA2819390884CSF2RAc.474-146_474-145insTT (n.474-146_474-145insTT)
c.*557-146_*557-145insTT (n.*557-146_*557-145insTT)
n.511-146_511-145insTT
c.244+2993_244+2994insTT (n.244+2993_244+2994insTT)
c.75-146_75-145insTT (n.75-146_75-145insTT)
c.342-146_342-145insTT (n.342-146_342-145insTT)
Xg.1290192G>ACA2692961238CSF2RAc.474-145G>A (n.474-145G>A)
c.*557-145G>A (n.*557-145G>A)
n.511-145G>A
c.244+2994G>A (n.244+2994G>A)
c.75-145G>A (n.75-145G>A)
c.342-145G>A (n.342-145G>A)
gnomAD v4
Xg.1290192G=CA2411810688CSF2RAc.474-145G= (n.474-145G=)
c.*557-145G= (n.*557-145G=)
n.511-145G=
c.244+2994G= (n.244+2994G=)
c.75-145G= (n.75-145G=)
c.342-145G= (n.342-145G=)
Xg.1290192G>TCA871305541CSF2RAc.474-145G>T (n.474-145G>T)
c.*557-145G>T (n.*557-145G>T)
n.511-145G>T
c.244+2994G>T (n.244+2994G>T)
c.75-145G>T (n.75-145G>T)
c.342-145G>T (n.342-145G>T)
dbSNP gnomAD v3 gnomAD v4
Xg.1290192_1290194delinsGGTCA2411810689CSF2RAc.474-145_474-143delinsGGT (n.474-145_474-143delinsGGT)
c.*557-145_*557-143delinsGGT (n.*557-145_*557-143delinsGGT)
n.511-145_511-143delinsGGT
c.244+2994_244+2996delinsGGT (n.244+2994_244+2996delinsGGT)
c.75-145_75-143delinsGGT (n.75-145_75-143delinsGGT)
c.342-145_342-143delinsGGT (n.342-145_342-143delinsGGT)
Xg.1290192_1290193insTCA515297791CSF2RAc.474-145_474-144insT (n.474-145_474-144insT)
c.*557-145_*557-144insT (n.*557-145_*557-144insT)
n.511-145_511-144insT
c.244+2994_244+2995insT (n.244+2994_244+2995insT)
c.75-145_75-144insT (n.75-145_75-144insT)
c.342-145_342-144insT (n.342-145_342-144insT)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290192_1290193insTTCA2692961239CSF2RAc.474-145_474-144insTT (n.474-145_474-144insTT)
c.*557-145_*557-144insTT (n.*557-145_*557-144insTT)
n.511-145_511-144insTT
c.244+2994_244+2995insTT (n.244+2994_244+2995insTT)
c.75-145_75-144insTT (n.75-145_75-144insTT)
c.342-145_342-144insTT (n.342-145_342-144insTT)
gnomAD v4
Xg.1290192_1290193insTTTTTTTTTTCA2819390885CSF2RAc.474-145_474-144insTTTTTTTTTT (n.474-145_474-144insTTTTTTTTTT)
c.*557-145_*557-144insTTTTTTTTTT (n.*557-145_*557-144insTTTTTTTTTT)
n.511-145_511-144insTTTTTTTTTT
c.244+2994_244+2995insTTTTTTTTTT (n.244+2994_244+2995insTTTTTTTTTT)
c.75-145_75-144insTTTTTTTTTT (n.75-145_75-144insTTTTTTTTTT)
c.342-145_342-144insTTTTTTTTTT (n.342-145_342-144insTTTTTTTTTT)
Xg.1290193G>ACA2692961243CSF2RAc.474-144G>A (n.474-144G>A)
c.*557-144G>A (n.*557-144G>A)
n.511-144G>A
c.244+2995G>A (n.244+2995G>A)
c.75-144G>A (n.75-144G>A)
c.342-144G>A (n.342-144G>A)
gnomAD v4
Xg.1290193G=CA2411810691CSF2RAc.474-144G= (n.474-144G=)
c.*557-144G= (n.*557-144G=)
n.511-144G=
c.244+2995G= (n.244+2995G=)
c.75-144G= (n.75-144G=)
c.342-144G= (n.342-144G=)
Xg.1290193G>TCA15058923CSF2RAc.474-144G>T (n.474-144G>T)
c.*557-144G>T (n.*557-144G>T)
n.511-144G>T
c.244+2995G>T (n.244+2995G>T)
c.75-144G>T (n.75-144G>T)
c.342-144G>T (n.342-144G>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.1290193_1290194delCA2411810692CSF2RAc.474-144_474-143del (n.474-144_474-143del)
c.*557-144_*557-143del (n.*557-144_*557-143del)
n.511-144_511-143del
c.244+2995_244+2996del (n.244+2995_244+2996del)
c.75-144_75-143del (n.75-144_75-143del)
c.342-144_342-143del (n.342-144_342-143del)
dbSNP
Xg.1290193_1290194delinsGTCA2411810690CSF2RAc.474-144_474-143delinsGT (n.474-144_474-143delinsGT)
c.*557-144_*557-143delinsGT (n.*557-144_*557-143delinsGT)
n.511-144_511-143delinsGT
c.244+2995_244+2996delinsGT (n.244+2995_244+2996delinsGT)
c.75-144_75-143delinsGT (n.75-144_75-143delinsGT)
c.342-144_342-143delinsGT (n.342-144_342-143delinsGT)
Xg.1290193_1290195delCA2692961240CSF2RAc.474-144_474-142del (n.474-144_474-142del)
c.*557-144_*557-142del (n.*557-144_*557-142del)
n.511-144_511-142del
c.244+2995_244+2997del (n.244+2995_244+2997del)
c.75-144_75-142del (n.75-144_75-142del)
c.342-144_342-142del (n.342-144_342-142del)
gnomAD v4
Xg.1290193_1290196delCA2692961241CSF2RAc.474-144_474-141del (n.474-144_474-141del)
c.*557-144_*557-141del (n.*557-144_*557-141del)
n.511-144_511-141del
c.244+2995_244+2998del (n.244+2995_244+2998del)
c.75-144_75-141del (n.75-144_75-141del)
c.342-144_342-141del (n.342-144_342-141del)
gnomAD v4
Xg.1290193_1290197delCA2692961242CSF2RAc.474-144_474-140del (n.474-144_474-140del)
c.*557-144_*557-140del (n.*557-144_*557-140del)
n.511-144_511-140del
c.244+2995_244+2999del (n.244+2995_244+2999del)
c.75-144_75-140del (n.75-144_75-140del)
c.342-144_342-140del (n.342-144_342-140del)
gnomAD v4
Xg.1290194T>CCA2411810694CSF2RAc.474-143T>C (n.474-143T>C)
c.*557-143T>C (n.*557-143T>C)
n.511-143T>C
c.244+2996T>C (n.244+2996T>C)
c.75-143T>C (n.75-143T>C)
c.342-143T>C (n.342-143T>C)
dbSNP
Xg.1290194T>GCA14999568CSF2RAc.474-143T>G (n.474-143T>G)
c.*557-143T>G (n.*557-143T>G)
n.511-143T>G
c.244+2996T>G (n.244+2996T>G)
c.75-143T>G (n.75-143T>G)
c.342-143T>G (n.342-143T>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290194T=CA2411810693CSF2RAc.474-143T= (n.474-143T=)
c.*557-143T= (n.*557-143T=)
n.511-143T=
c.244+2996T= (n.244+2996T=)
c.75-143T= (n.75-143T=)
c.342-143T= (n.342-143T=)
Xg.1290194_1290201delCA2692961245CSF2RAc.474-143_474-136del (n.474-143_474-136del)
c.*557-143_*557-136del (n.*557-143_*557-136del)
n.511-143_511-136del
c.244+2996_244+3003del (n.244+2996_244+3003del)
c.75-143_75-136del (n.75-143_75-136del)
c.342-143_342-136del (n.342-143_342-136del)
gnomAD v4
Xg.1290201dupCA325917383CSF2RAc.474-136dup (n.474-136dup)
c.*557-136dup (n.*557-136dup)
n.511-136dup
c.244+3003dup (n.244+3003dup)
c.75-136dup (n.75-136dup)
c.342-136dup (n.342-136dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290200_1290201dupCA2692961248CSF2RAc.474-137_474-136dup (n.474-137_474-136dup)
c.*557-137_*557-136dup (n.*557-137_*557-136dup)
n.511-137_511-136dup
c.244+3002_244+3003dup (n.244+3002_244+3003dup)
c.75-137_75-136dup (n.75-137_75-136dup)
c.342-137_342-136dup (n.342-137_342-136dup)
gnomAD v4
Xg.1290201delCA640360196CSF2RAc.474-136del (n.474-136del)
c.*557-136del (n.*557-136del)
n.511-136del
c.244+3003del (n.244+3003del)
c.75-136del (n.75-136del)
c.342-136del (n.342-136del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290198_1290201delCA2692961247CSF2RAc.474-139_474-136del (n.474-139_474-136del)
c.*557-139_*557-136del (n.*557-139_*557-136del)
n.511-139_511-136del
c.244+3000_244+3003del (n.244+3000_244+3003del)
c.75-139_75-136del (n.75-139_75-136del)
c.342-139_342-136del (n.342-139_342-136del)
gnomAD v4
Xg.1290197_1290201delCA2692961246CSF2RAc.474-140_474-136del (n.474-140_474-136del)
c.*557-140_*557-136del (n.*557-140_*557-136del)
n.511-140_511-136del
c.244+2999_244+3003del (n.244+2999_244+3003del)
c.75-140_75-136del (n.75-140_75-136del)
c.342-140_342-136del (n.342-140_342-136del)
gnomAD v4
Xg.1290194_1290221delCA2692961244CSF2RAc.474-143_474-116del (n.474-143_474-116del)
c.*557-143_*557-116del (n.*557-143_*557-116del)
n.511-143_511-116del
c.244+2996_244+3023del (n.244+2996_244+3023del)
c.75-143_75-116del (n.75-143_75-116del)
c.342-143_342-116del (n.342-143_342-116del)
gnomAD v4
Xg.1290195T>GCA1130406509CSF2RAc.474-142T>G (n.474-142T>G)
c.*557-142T>G (n.*557-142T>G)
n.511-142T>G
c.244+2997T>G (n.244+2997T>G)
c.75-142T>G (n.75-142T>G)
c.342-142T>G (n.342-142T>G)
dbSNP gnomAD v3 gnomAD v4
Xg.1290195T=CA2411810695CSF2RAc.474-142T= (n.474-142T=)
c.*557-142T= (n.*557-142T=)
n.511-142T=
c.244+2997T= (n.244+2997T=)
c.75-142T= (n.75-142T=)
c.342-142T= (n.342-142T=)
Xg.1290197_1290198insGTGTTTTTGTTTTTTGTTTCA2819390886CSF2RAc.474-140_474-139insGTGTTTTTGTTTTTTGTTT (n.474-140_474-139insGTGTTTTTGTTTTTTGTTT)
c.*557-140_*557-139insGTGTTTTTGTTTTTTGTTT (n.*557-140_*557-139insGTGTTTTTGTTTTTTGTTT)
n.511-140_511-139insGTGTTTTTGTTTTTTGTTT
c.244+2999_244+3000insGTGTTTTTGTTTTTTGTTT (n.244+2999_244+3000insGTGTTTTTGTTTTTTGTTT)
c.75-140_75-139insGTGTTTTTGTTTTTTGTTT (n.75-140_75-139insGTGTTTTTGTTTTTTGTTT)
c.342-140_342-139insGTGTTTTTGTTTTTTGTTT (n.342-140_342-139insGTGTTTTTGTTTTTTGTTT)
Xg.1290196T>GCA2562391070CSF2RAc.474-141T>G (n.474-141T>G)
c.*557-141T>G (n.*557-141T>G)
n.511-141T>G
c.244+2998T>G (n.244+2998T>G)
c.75-141T>G (n.75-141T>G)
c.342-141T>G (n.342-141T>G)
gnomAD v4
Xg.1290196_1290209delinsTTTTTTGTTTTGTGCA2411810696CSF2RAc.474-141_474-128delinsTTTTTTGTTTTGTG (n.474-141_474-128delinsTTTTTTGTTTTGTG)
c.*557-141_*557-128delinsTTTTTTGTTTTGTG (n.*557-141_*557-128delinsTTTTTTGTTTTGTG)
n.511-141_511-128delinsTTTTTTGTTTTGTG
c.244+2998_244+3011delinsTTTTTTGTTTTGTG (n.244+2998_244+3011delinsTTTTTTGTTTTGTG)
c.75-141_75-128delinsTTTTTTGTTTTGTG (n.75-141_75-128delinsTTTTTTGTTTTGTG)
c.342-141_342-128delinsTTTTTTGTTTTGTG (n.342-141_342-128delinsTTTTTTGTTTTGTG)
Xg.1290197T=CA2411810697CSF2RAc.474-140T= (n.474-140T=)
c.*557-140T= (n.*557-140T=)
n.511-140T=
c.244+2999T= (n.244+2999T=)
c.75-140T= (n.75-140T=)
c.342-140T= (n.342-140T=)
Xg.1290217_1290229delCA1130406513CSF2RAc.474-120_474-108del (n.474-120_474-108del)
c.*557-120_*557-108del (n.*557-120_*557-108del)
n.511-120_511-108del
c.244+3019_244+3031del (n.244+3019_244+3031del)
c.75-120_75-108del (n.75-120_75-108del)
c.342-120_342-108del (n.342-120_342-108del)
dbSNP gnomAD v3 gnomAD v4
Xg.1290197_1290198insGCA2411810699CSF2RAc.474-140_474-139insG (n.474-140_474-139insG)
c.*557-140_*557-139insG (n.*557-140_*557-139insG)
n.511-140_511-139insG
c.244+2999_244+3000insG (n.244+2999_244+3000insG)
c.75-140_75-139insG (n.75-140_75-139insG)
c.342-140_342-139insG (n.342-140_342-139insG)
dbSNP gnomAD v4
Xg.1290197_1290198insCGCA2411810698CSF2RAc.474-140_474-139insCG (n.474-140_474-139insCG)
c.*557-140_*557-139insCG (n.*557-140_*557-139insCG)
n.511-140_511-139insCG
c.244+2999_244+3000insCG (n.244+2999_244+3000insCG)
c.75-140_75-139insCG (n.75-140_75-139insCG)
c.342-140_342-139insCG (n.342-140_342-139insCG)
dbSNP
Xg.1290198T>CCA1130406522CSF2RAc.474-139T>C (n.474-139T>C)
c.*557-139T>C (n.*557-139T>C)
n.511-139T>C
c.244+3000T>C (n.244+3000T>C)
c.75-139T>C (n.75-139T>C)
c.342-139T>C (n.342-139T>C)
dbSNP gnomAD v3 gnomAD v4
Xg.1290198T>GCA1130406524CSF2RAc.474-139T>G (n.474-139T>G)
c.*557-139T>G (n.*557-139T>G)
n.511-139T>G
c.244+3000T>G (n.244+3000T>G)
c.75-139T>G (n.75-139T>G)
c.342-139T>G (n.342-139T>G)
dbSNP gnomAD v3 gnomAD v4
Xg.1290198T=CA2411810700CSF2RAc.474-139T= (n.474-139T=)
c.*557-139T= (n.*557-139T=)
n.511-139T=
c.244+3000T= (n.244+3000T=)
c.75-139T= (n.75-139T=)
c.342-139T= (n.342-139T=)
Xg.1290202_1290213delCA2692961249CSF2RAc.474-135_474-124del (n.474-135_474-124del)
c.*557-135_*557-124del (n.*557-135_*557-124del)
n.511-135_511-124del
c.244+3004_244+3015del (n.244+3004_244+3015del)
c.75-135_75-124del (n.75-135_75-124del)
c.342-135_342-124del (n.342-135_342-124del)
gnomAD v4
Xg.1290199T>CCA2819390888CSF2RAc.474-138T>C (n.474-138T>C)
c.*557-138T>C (n.*557-138T>C)
n.511-138T>C
c.244+3001T>C (n.244+3001T>C)
c.75-138T>C (n.75-138T>C)
c.342-138T>C (n.342-138T>C)
Xg.1290199T>GCA2819390887CSF2RAc.474-138T>G (n.474-138T>G)
c.*557-138T>G (n.*557-138T>G)
n.511-138T>G
c.244+3001T>G (n.244+3001T>G)
c.75-138T>G (n.75-138T>G)
c.342-138T>G (n.342-138T>G)
Xg.1290199_1290202delinsTTTGCA2411810701CSF2RAc.474-138_474-135delinsTTTG (n.474-138_474-135delinsTTTG)
c.*557-138_*557-135delinsTTTG (n.*557-138_*557-135delinsTTTG)
n.511-138_511-135delinsTTTG
c.244+3001_244+3004delinsTTTG (n.244+3001_244+3004delinsTTTG)
c.75-138_75-135delinsTTTG (n.75-138_75-135delinsTTTG)
c.342-138_342-135delinsTTTG (n.342-138_342-135delinsTTTG)
Xg.1290200T>ACA2819390889CSF2RAc.474-137T>A (n.474-137T>A)
c.*557-137T>A (n.*557-137T>A)
n.511-137T>A
c.244+3002T>A (n.244+3002T>A)
c.75-137T>A (n.75-137T>A)
c.342-137T>A (n.342-137T>A)
Xg.1290200T>CCA2692961250CSF2RAc.474-137T>C (n.474-137T>C)
c.*557-137T>C (n.*557-137T>C)
n.511-137T>C
c.244+3002T>C (n.244+3002T>C)
c.75-137T>C (n.75-137T>C)
c.342-137T>C (n.342-137T>C)
gnomAD v4
Xg.1290200T>GCA2819390890CSF2RAc.474-137T>G (n.474-137T>G)
c.*557-137T>G (n.*557-137T>G)
n.511-137T>G
c.244+3002T>G (n.244+3002T>G)
c.75-137T>G (n.75-137T>G)
c.342-137T>G (n.342-137T>G)
Xg.1290202_1290204delCA871305556CSF2RAc.474-135_474-133del (n.474-135_474-133del)
c.*557-135_*557-133del (n.*557-135_*557-133del)
n.511-135_511-133del
c.244+3004_244+3006del (n.244+3004_244+3006del)
c.75-135_75-133del (n.75-135_75-133del)
c.342-135_342-133del (n.342-135_342-133del)
dbSNP gnomAD v3 gnomAD v4
Xg.1290200_1290228delinsTTGTTTTGTGTTTTTGTTTTGTGTTTTTGCA2411810702CSF2RAc.474-137_474-109delinsTTGTTTTGTGTTTTTGTTTTGTGTTTTTG (n.474-137_474-109delinsTTGTTTTGTGTTTTTGTTTTGTGTTTTTG)
c.*557-137_*557-109delinsTTGTTTTGTGTTTTTGTTTTGTGTTTTTG (n.*557-137_*557-109delinsTTGTTTTGTGTTTTTGTTTTGTGTTTTTG)
n.511-137_511-109delinsTTGTTTTGTGTTTTTGTTTTGTGTTTTTG
c.244+3002_244+3030delinsTTGTTTTGTGTTTTTGTTTTGTGTTTTTG (n.244+3002_244+3030delinsTTGTTTTGTGTTTTTGTTTTGTGTTTTTG)
c.75-137_75-109delinsTTGTTTTGTGTTTTTGTTTTGTGTTTTTG (n.75-137_75-109delinsTTGTTTTGTGTTTTTGTTTTGTGTTTTTG)
c.342-137_342-109delinsTTGTTTTGTGTTTTTGTTTTGTGTTTTTG (n.342-137_342-109delinsTTGTTTTGTGTTTTTGTTTTGTGTTTTTG)
Xg.1290201T>CCA2411810704CSF2RAc.474-136T>C (n.474-136T>C)
c.*557-136T>C (n.*557-136T>C)
n.511-136T>C
c.244+3003T>C (n.244+3003T>C)
c.75-136T>C (n.75-136T>C)
c.342-136T>C (n.342-136T>C)
dbSNP
Xg.1290201T>GCA325917387CSF2RAc.474-136T>G (n.474-136T>G)
c.*557-136T>G (n.*557-136T>G)
n.511-136T>G
c.244+3003T>G (n.244+3003T>G)
c.75-136T>G (n.75-136T>G)
c.342-136T>G (n.342-136T>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290201T=CA2411810703CSF2RAc.474-136T= (n.474-136T=)
c.*557-136T= (n.*557-136T=)
n.511-136T=
c.244+3003T= (n.244+3003T=)
c.75-136T= (n.75-136T=)
c.342-136T= (n.342-136T=)
Xg.1290217_1290244delCA640360202CSF2RAc.474-120_474-93del (n.474-120_474-93del)
c.*557-120_*557-93del (n.*557-120_*557-93del)
n.511-120_511-93del
c.244+3019_244+3046del (n.244+3019_244+3046del)
c.75-120_75-93del (n.75-120_75-93del)
c.342-120_342-93del (n.342-120_342-93del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290202G>CCA2411810706CSF2RAc.474-135G>C (n.474-135G>C)
c.*557-135G>C (n.*557-135G>C)
n.511-135G>C
c.244+3004G>C (n.244+3004G>C)
c.75-135G>C (n.75-135G>C)
c.342-135G>C (n.342-135G>C)
dbSNP
Xg.1290202G=CA2411810705CSF2RAc.474-135G= (n.474-135G=)
c.*557-135G= (n.*557-135G=)
n.511-135G=
c.244+3004G= (n.244+3004G=)
c.75-135G= (n.75-135G=)
c.342-135G= (n.342-135G=)
Xg.1290202G>TCA871305573CSF2RAc.474-135G>T (n.474-135G>T)
c.*557-135G>T (n.*557-135G>T)
n.511-135G>T
c.244+3004G>T (n.244+3004G>T)
c.75-135G>T (n.75-135G>T)
c.342-135G>T (n.342-135G>T)
dbSNP gnomAD v3 gnomAD v4
Xg.1290203T>ACA2692961253CSF2RAc.474-134T>A (n.474-134T>A)
c.*557-134T>A (n.*557-134T>A)
n.511-134T>A
c.244+3005T>A (n.244+3005T>A)
c.75-134T>A (n.75-134T>A)
c.342-134T>A (n.342-134T>A)
gnomAD v4
Xg.1290203T>CCA2692961252CSF2RAc.474-134T>C (n.474-134T>C)
c.*557-134T>C (n.*557-134T>C)
n.511-134T>C
c.244+3005T>C (n.244+3005T>C)
c.75-134T>C (n.75-134T>C)
c.342-134T>C (n.342-134T>C)
gnomAD v4
Xg.1290203T>GCA2692961251CSF2RAc.474-134T>G (n.474-134T>G)
c.*557-134T>G (n.*557-134T>G)
n.511-134T>G
c.244+3005T>G (n.244+3005T>G)
c.75-134T>G (n.75-134T>G)
c.342-134T>G (n.342-134T>G)
gnomAD v4
Xg.1290214_1290234delCA2692961254CSF2RAc.474-123_474-103del (n.474-123_474-103del)
c.*557-123_*557-103del (n.*557-123_*557-103del)
n.511-123_511-103del
c.244+3016_244+3036del (n.244+3016_244+3036del)
c.75-123_75-103del (n.75-123_75-103del)
c.342-123_342-103del (n.342-123_342-103del)
gnomAD v4
Xg.1290204T>ACA871305576CSF2RAc.474-133T>A (n.474-133T>A)
c.*557-133T>A (n.*557-133T>A)
n.511-133T>A
c.244+3006T>A (n.244+3006T>A)
c.75-133T>A (n.75-133T>A)
c.342-133T>A (n.342-133T>A)
dbSNP gnomAD v3 gnomAD v4
Xg.1290204T>CCA2411810708CSF2RAc.474-133T>C (n.474-133T>C)
c.*557-133T>C (n.*557-133T>C)
n.511-133T>C
c.244+3006T>C (n.244+3006T>C)
c.75-133T>C (n.75-133T>C)
c.342-133T>C (n.342-133T>C)
dbSNP gnomAD v4
Xg.1290204T=CA2411810707CSF2RAc.474-133T= (n.474-133T=)
c.*557-133T= (n.*557-133T=)
n.511-133T=
c.244+3006T= (n.244+3006T=)
c.75-133T= (n.75-133T=)
c.342-133T= (n.342-133T=)
Xg.1290205T>CCA2692961256CSF2RAc.474-132T>C (n.474-132T>C)
c.*557-132T>C (n.*557-132T>C)
n.511-132T>C
c.244+3007T>C (n.244+3007T>C)
c.75-132T>C (n.75-132T>C)
c.342-132T>C (n.342-132T>C)
gnomAD v4
Xg.1290205T>GCA1130406535CSF2RAc.474-132T>G (n.474-132T>G)
c.*557-132T>G (n.*557-132T>G)
n.511-132T>G
c.244+3007T>G (n.244+3007T>G)
c.75-132T>G (n.75-132T>G)
c.342-132T>G (n.342-132T>G)
gnomAD v3 gnomAD v4
Xg.1290207_1290211delCA2692961255CSF2RAc.474-130_474-126del (n.474-130_474-126del)
c.*557-130_*557-126del (n.*557-130_*557-126del)
n.511-130_511-126del
c.244+3009_244+3013del (n.244+3009_244+3013del)
c.75-130_75-126del (n.75-130_75-126del)
c.342-130_342-126del (n.342-130_342-126del)
gnomAD v4
Xg.1290206T>GCA2692961258CSF2RAc.474-131T>G (n.474-131T>G)
c.*557-131T>G (n.*557-131T>G)
n.511-131T>G
c.244+3008T>G (n.244+3008T>G)
c.75-131T>G (n.75-131T>G)
c.342-131T>G (n.342-131T>G)
gnomAD v4
Xg.1290209_1290210delCA2692961257CSF2RAc.474-128_474-127del (n.474-128_474-127del)
c.*557-128_*557-127del (n.*557-128_*557-127del)
n.511-128_511-127del
c.244+3011_244+3012del (n.244+3011_244+3012del)
c.75-128_75-127del (n.75-128_75-127del)
c.342-128_342-127del (n.342-128_342-127del)
gnomAD v4
Xg.1290207G>ACA2692961259CSF2RAc.474-130G>A (n.474-130G>A)
c.*557-130G>A (n.*557-130G>A)
n.511-130G>A
c.244+3009G>A (n.244+3009G>A)
c.75-130G>A (n.75-130G>A)
c.342-130G>A (n.342-130G>A)
gnomAD v4
Xg.1290207G>CCA2692961260CSF2RAc.474-130G>C (n.474-130G>C)
c.*557-130G>C (n.*557-130G>C)
n.511-130G>C
c.244+3009G>C (n.244+3009G>C)
c.75-130G>C (n.75-130G>C)
c.342-130G>C (n.342-130G>C)
gnomAD v4
Xg.1290207G=CA2411810710CSF2RAc.474-130G= (n.474-130G=)
c.*557-130G= (n.*557-130G=)
n.511-130G=
c.244+3009G= (n.244+3009G=)
c.75-130G= (n.75-130G=)
c.342-130G= (n.342-130G=)
Xg.1290207G>TCA871305593CSF2RAc.474-130G>T (n.474-130G>T)
c.*557-130G>T (n.*557-130G>T)
n.511-130G>T
c.244+3009G>T (n.244+3009G>T)
c.75-130G>T (n.75-130G>T)
c.342-130G>T (n.342-130G>T)
dbSNP gnomAD v3 gnomAD v4
Xg.1290207_1290213delinsGTGTTTTCA2411810709CSF2RAc.474-130_474-124delinsGTGTTTT (n.474-130_474-124delinsGTGTTTT)
c.*557-130_*557-124delinsGTGTTTT (n.*557-130_*557-124delinsGTGTTTT)
n.511-130_511-124delinsGTGTTTT
c.244+3009_244+3015delinsGTGTTTT (n.244+3009_244+3015delinsGTGTTTT)
c.75-130_75-124delinsGTGTTTT (n.75-130_75-124delinsGTGTTTT)
c.342-130_342-124delinsGTGTTTT (n.342-130_342-124delinsGTGTTTT)
Xg.1290208T>ACA2692961261CSF2RAc.474-129T>A (n.474-129T>A)
c.*557-129T>A (n.*557-129T>A)
n.511-129T>A
c.244+3010T>A (n.244+3010T>A)
c.75-129T>A (n.75-129T>A)
c.342-129T>A (n.342-129T>A)
gnomAD v4
Xg.1290208T>CCA871305597CSF2RAc.474-129T>C (n.474-129T>C)
c.*557-129T>C (n.*557-129T>C)
n.511-129T>C
c.244+3010T>C (n.244+3010T>C)
c.75-129T>C (n.75-129T>C)
c.342-129T>C (n.342-129T>C)
dbSNP gnomAD v4
Xg.1290208T>GCA2692961262CSF2RAc.474-129T>G (n.474-129T>G)
c.*557-129T>G (n.*557-129T>G)
n.511-129T>G
c.244+3010T>G (n.244+3010T>G)
c.75-129T>G (n.75-129T>G)
c.342-129T>G (n.342-129T>G)
gnomAD v4
Xg.1290208T=CA2411810711CSF2RAc.474-129T= (n.474-129T=)
c.*557-129T= (n.*557-129T=)
n.511-129T=
c.244+3010T= (n.244+3010T=)
c.75-129T= (n.75-129T=)
c.342-129T= (n.342-129T=)
Xg.1290214_1290219delCA871305598CSF2RAc.474-123_474-118del (n.474-123_474-118del)
c.*557-123_*557-118del (n.*557-123_*557-118del)
n.511-123_511-118del
c.244+3016_244+3021del (n.244+3016_244+3021del)
c.75-123_75-118del (n.75-123_75-118del)
c.342-123_342-118del (n.342-123_342-118del)
dbSNP
Xg.1290209G>ACA2539927592CSF2RAc.474-128G>A (n.474-128G>A)
c.*557-128G>A (n.*557-128G>A)
n.511-128G>A
c.244+3011G>A (n.244+3011G>A)
c.75-128G>A (n.75-128G>A)
c.342-128G>A (n.342-128G>A)
gnomAD v4
Xg.1290209G=CA2411810712CSF2RAc.474-128G= (n.474-128G=)
c.*557-128G= (n.*557-128G=)
n.511-128G=
c.244+3011G= (n.244+3011G=)
c.75-128G= (n.75-128G=)
c.342-128G= (n.342-128G=)
Xg.1290209G>TCA871305601CSF2RAc.474-128G>T (n.474-128G>T)
c.*557-128G>T (n.*557-128G>T)
n.511-128G>T
c.244+3011G>T (n.244+3011G>T)
c.75-128G>T (n.75-128G>T)
c.342-128G>T (n.342-128G>T)
dbSNP gnomAD v3 gnomAD v4
Xg.1290210T>CCA2411810715CSF2RAc.474-127T>C (n.474-127T>C)
c.*557-127T>C (n.*557-127T>C)
n.511-127T>C
c.244+3012T>C (n.244+3012T>C)
c.75-127T>C (n.75-127T>C)
c.342-127T>C (n.342-127T>C)
dbSNP
Xg.1290210T>GCA2692961263CSF2RAc.474-127T>G (n.474-127T>G)
c.*557-127T>G (n.*557-127T>G)
n.511-127T>G
c.244+3012T>G (n.244+3012T>G)
c.75-127T>G (n.75-127T>G)
c.342-127T>G (n.342-127T>G)
gnomAD v4
Xg.1290210T=CA2411810714CSF2RAc.474-127T= (n.474-127T=)
c.*557-127T= (n.*557-127T=)
n.511-127T=
c.244+3012T= (n.244+3012T=)
c.75-127T= (n.75-127T=)
c.342-127T= (n.342-127T=)
Xg.1290210_1290215delinsTTTTTGCA2411810713CSF2RAc.474-127_474-122delinsTTTTTG (n.474-127_474-122delinsTTTTTG)
c.*557-127_*557-122delinsTTTTTG (n.*557-127_*557-122delinsTTTTTG)
n.511-127_511-122delinsTTTTTG
c.244+3012_244+3017delinsTTTTTG (n.244+3012_244+3017delinsTTTTTG)
c.75-127_75-122delinsTTTTTG (n.75-127_75-122delinsTTTTTG)
c.342-127_342-122delinsTTTTTG (n.342-127_342-122delinsTTTTTG)
Xg.1290211T>CCA640360210CSF2RAc.474-126T>C (n.474-126T>C)
c.*557-126T>C (n.*557-126T>C)
n.511-126T>C
c.244+3013T>C (n.244+3013T>C)
c.75-126T>C (n.75-126T>C)
c.342-126T>C (n.342-126T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290211T>GCA2692961265CSF2RAc.474-126T>G (n.474-126T>G)
c.*557-126T>G (n.*557-126T>G)
n.511-126T>G
c.244+3013T>G (n.244+3013T>G)
c.75-126T>G (n.75-126T>G)
c.342-126T>G (n.342-126T>G)
gnomAD v4
Xg.1290211T=CA2411810716CSF2RAc.474-126T= (n.474-126T=)
c.*557-126T= (n.*557-126T=)
n.511-126T=
c.244+3013T= (n.244+3013T=)
c.75-126T= (n.75-126T=)
c.342-126T= (n.342-126T=)
Xg.1290217_1290221delCA640360208CSF2RAc.474-120_474-116del (n.474-120_474-116del)
c.*557-120_*557-116del (n.*557-120_*557-116del)
n.511-120_511-116del
c.244+3019_244+3023del (n.244+3019_244+3023del)
c.75-120_75-116del (n.75-120_75-116del)
c.342-120_342-116del (n.342-120_342-116del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290226_1290260delCA2590266795CSF2RAc.474-111_474-77del (n.474-111_474-77del)
c.*557-111_*557-77del (n.*557-111_*557-77del)
n.511-111_511-77del
c.244+3028_244+3062del (n.244+3028_244+3062del)
c.75-111_75-77del (n.75-111_75-77del)
c.342-111_342-77del (n.342-111_342-77del)
dbSNP gnomAD v3 gnomAD v4
Xg.1290237_1290293dupCA1130406538CSF2RAc.474-100_474-44dup (n.474-100_474-44dup)
c.*557-100_*557-44dup (n.*557-100_*557-44dup)
n.511-100_511-44dup
c.244+3039_244+3095dup (n.244+3039_244+3095dup)
c.75-100_75-44dup (n.75-100_75-44dup)
c.342-100_342-44dup (n.342-100_342-44dup)
gnomAD v3 gnomAD v4
Xg.1290237_1290293delCA2692961264CSF2RAc.474-100_474-44del (n.474-100_474-44del)
c.*557-100_*557-44del (n.*557-100_*557-44del)
n.511-100_511-44del
c.244+3039_244+3095del (n.244+3039_244+3095del)
c.75-100_75-44del (n.75-100_75-44del)
c.342-100_342-44del (n.342-100_342-44del)
gnomAD v4
Xg.1290212T>GCA2692961266CSF2RAc.474-125T>G (n.474-125T>G)
c.*557-125T>G (n.*557-125T>G)
n.511-125T>G
c.244+3014T>G (n.244+3014T>G)
c.75-125T>G (n.75-125T>G)
c.342-125T>G (n.342-125T>G)
gnomAD v4
Xg.1290213T>CCA2692961267CSF2RAc.474-124T>C (n.474-124T>C)
c.*557-124T>C (n.*557-124T>C)
n.511-124T>C
c.244+3015T>C (n.244+3015T>C)
c.75-124T>C (n.75-124T>C)
c.342-124T>C (n.342-124T>C)
gnomAD v4
Xg.1290213T>GCA2692961268CSF2RAc.474-124T>G (n.474-124T>G)
c.*557-124T>G (n.*557-124T>G)
n.511-124T>G
c.244+3015T>G (n.244+3015T>G)
c.75-124T>G (n.75-124T>G)
c.342-124T>G (n.342-124T>G)
gnomAD v4
Xg.1290213T=CA2411810718CSF2RAc.474-124T= (n.474-124T=)
c.*557-124T= (n.*557-124T=)
n.511-124T=
c.244+3015T= (n.244+3015T=)
c.75-124T= (n.75-124T=)
c.342-124T= (n.342-124T=)
Xg.1290213_1290228delinsTTGTTTTGTGTTTTTGCA2411810717CSF2RAc.474-124_474-109delinsTTGTTTTGTGTTTTTG (n.474-124_474-109delinsTTGTTTTGTGTTTTTG)
c.*557-124_*557-109delinsTTGTTTTGTGTTTTTG (n.*557-124_*557-109delinsTTGTTTTGTGTTTTTG)
n.511-124_511-109delinsTTGTTTTGTGTTTTTG
c.244+3015_244+3030delinsTTGTTTTGTGTTTTTG (n.244+3015_244+3030delinsTTGTTTTGTGTTTTTG)
c.75-124_75-109delinsTTGTTTTGTGTTTTTG (n.75-124_75-109delinsTTGTTTTGTGTTTTTG)
c.342-124_342-109delinsTTGTTTTGTGTTTTTG (n.342-124_342-109delinsTTGTTTTGTGTTTTTG)
Xg.1290214T>CCA2692961270CSF2RAc.474-123T>C (n.474-123T>C)
c.*557-123T>C (n.*557-123T>C)
n.511-123T>C
c.244+3016T>C (n.244+3016T>C)
c.75-123T>C (n.75-123T>C)
c.342-123T>C (n.342-123T>C)
gnomAD v4
Xg.1290214T=CA2411810720CSF2RAc.474-123T= (n.474-123T=)
c.*557-123T= (n.*557-123T=)
n.511-123T=
c.244+3016T= (n.244+3016T=)
c.75-123T= (n.75-123T=)
c.342-123T= (n.342-123T=)
Xg.1290215_1290216dupCA2411810719CSF2RAc.474-122_474-121dup (n.474-122_474-121dup)
c.*557-122_*557-121dup (n.*557-122_*557-121dup)
n.511-122_511-121dup
c.244+3017_244+3018dup (n.244+3017_244+3018dup)
c.75-122_75-121dup (n.75-122_75-121dup)
c.342-122_342-121dup (n.342-122_342-121dup)
dbSNP gnomAD v4
Xg.1290237_1290251dupCA2692961269CSF2RAc.474-100_474-86dup (n.474-100_474-86dup)
c.*557-100_*557-86dup (n.*557-100_*557-86dup)
n.511-100_511-86dup
c.244+3039_244+3053dup (n.244+3039_244+3053dup)
c.75-100_75-86dup (n.75-100_75-86dup)
c.342-100_342-86dup (n.342-100_342-86dup)
gnomAD v4
Xg.1290237_1290251delCA640360214CSF2RAc.474-100_474-86del (n.474-100_474-86del)
c.*557-100_*557-86del (n.*557-100_*557-86del)
n.511-100_511-86del
c.244+3039_244+3053del (n.244+3039_244+3053del)
c.75-100_75-86del (n.75-100_75-86del)
c.342-100_342-86del (n.342-100_342-86del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290215G>ACA2518584940CSF2RAc.474-122G>A (n.474-122G>A)
c.*557-122G>A (n.*557-122G>A)
n.511-122G>A
c.244+3017G>A (n.244+3017G>A)
c.75-122G>A (n.75-122G>A)
c.342-122G>A (n.342-122G>A)
Xg.1290215G=CA2411810722CSF2RAc.474-122G= (n.474-122G=)
c.*557-122G= (n.*557-122G=)
n.511-122G=
c.244+3017G= (n.244+3017G=)
c.75-122G= (n.75-122G=)
c.342-122G= (n.342-122G=)
Xg.1290215G>TCA871305614CSF2RAc.474-122G>T (n.474-122G>T)
c.*557-122G>T (n.*557-122G>T)
n.511-122G>T
c.244+3017G>T (n.244+3017G>T)
c.75-122G>T (n.75-122G>T)
c.342-122G>T (n.342-122G>T)
dbSNP gnomAD v3 gnomAD v4
Xg.1290215dupCA2411810721CSF2RAc.474-122dup (n.474-122dup)
c.*557-122dup (n.*557-122dup)
n.511-122dup
c.244+3017dup (n.244+3017dup)
c.75-122dup (n.75-122dup)
c.342-122dup (n.342-122dup)
dbSNP
Xg.1290215_1290229delinsGTTTTGTGTTTTTGTCA2411810724CSF2RAc.474-122_474-108delinsGTTTTGTGTTTTTGT (n.474-122_474-108delinsGTTTTGTGTTTTTGT)
c.*557-122_*557-108delinsGTTTTGTGTTTTTGT (n.*557-122_*557-108delinsGTTTTGTGTTTTTGT)
n.511-122_511-108delinsGTTTTGTGTTTTTGT
c.244+3017_244+3031delinsGTTTTGTGTTTTTGT (n.244+3017_244+3031delinsGTTTTGTGTTTTTGT)
c.75-122_75-108delinsGTTTTGTGTTTTTGT (n.75-122_75-108delinsGTTTTGTGTTTTTGT)
c.342-122_342-108delinsGTTTTGTGTTTTTGT (n.342-122_342-108delinsGTTTTGTGTTTTTGT)
Xg.1290215_1290238delinsGTTTTGTGTTTTTGTGTTTTGTGTCA2411810723CSF2RAc.474-122_474-99delinsGTTTTGTGTTTTTGTGTTTTGTGT (n.474-122_474-99delinsGTTTTGTGTTTTTGTGTTTTGTGT)
c.*557-122_*557-99delinsGTTTTGTGTTTTTGTGTTTTGTGT (n.*557-122_*557-99delinsGTTTTGTGTTTTTGTGTTTTGTGT)
n.511-122_511-99delinsGTTTTGTGTTTTTGTGTTTTGTGT
c.244+3017_244+3040delinsGTTTTGTGTTTTTGTGTTTTGTGT (n.244+3017_244+3040delinsGTTTTGTGTTTTTGTGTTTTGTGT)
c.75-122_75-99delinsGTTTTGTGTTTTTGTGTTTTGTGT (n.75-122_75-99delinsGTTTTGTGTTTTTGTGTTTTGTGT)
c.342-122_342-99delinsGTTTTGTGTTTTTGTGTTTTGTGT (n.342-122_342-99delinsGTTTTGTGTTTTTGTGTTTTGTGT)
Xg.1290216T>ACA2411810727CSF2RAc.474-121T>A (n.474-121T>A)
c.*557-121T>A (n.*557-121T>A)
n.511-121T>A
c.244+3018T>A (n.244+3018T>A)
c.75-121T>A (n.75-121T>A)
c.342-121T>A (n.342-121T>A)
dbSNP
Xg.1290216T>CCA2692961272CSF2RAc.474-121T>C (n.474-121T>C)
c.*557-121T>C (n.*557-121T>C)
n.511-121T>C
c.244+3018T>C (n.244+3018T>C)
c.75-121T>C (n.75-121T>C)
c.342-121T>C (n.342-121T>C)
gnomAD v4
Xg.1290216T>GCA2692961271CSF2RAc.474-121T>G (n.474-121T>G)
c.*557-121T>G (n.*557-121T>G)
n.511-121T>G
c.244+3018T>G (n.244+3018T>G)
c.75-121T>G (n.75-121T>G)
c.342-121T>G (n.342-121T>G)
gnomAD v4
Xg.1290216T=CA2411810726CSF2RAc.474-121T= (n.474-121T=)
c.*557-121T= (n.*557-121T=)
n.511-121T=
c.244+3018T= (n.244+3018T=)
c.75-121T= (n.75-121T=)
c.342-121T= (n.342-121T=)
Xg.1290216_1290217insGTTTTTTTTTGTGTTTTTTTTTTTTTTTTTTTGTGTTTTTTTGTTTTTTTTTTTTTTTGTGTTTTTTTCA2819390891CSF2RAc.474-121_474-120insGTTTTTTTTTGTGTTTTTTTTTTTTTTTTTTTGTGTTTTTTTGTTTTTTTTTTTTTTTGTGTTTTTTT (n.474-121_474-120insGTTTTTTTTTGTGTTTTTTTTTTTTTTTTTTTGTGTTTTTTTGTTTTTTTTTTTTTTTGTGTTTTTTT)
c.*557-121_*557-120insGTTTTTTTTTGTGTTTTTTTTTTTTTTTTTTTGTGTTTTTTTGTTTTTTTTTTTTTTTGTGTTTTTTT (n.*557-121_*557-120insGTTTTTTTTTGTGTTTTTTTTTTTTTTTTTTTGTGTTTTTTTGTTTTTTTTTTTTTTTGTGTTTTTTT)
n.511-121_511-120insGTTTTTTTTTGTGTTTTTTTTTTTTTTTTTTTGTGTTTTTTTGTTTTTTTTTTTTTTTGTGTTTTTTT
c.244+3018_244+3019insGTTTTTTTTTGTGTTTTTTTTTTTTTTTTTTTGTGTTTTTTTGTTTTTTTTTTTTTTTGTGTTTTTTT (n.244+3018_244+3019insGTTTTTTTTTGTGTTTTTTTTTTTTTTTTTTTGTGTTTTTTTGTTTTTTTTTTTTTTTGTGTTTTTTT)
c.75-121_75-120insGTTTTTTTTTGTGTTTTTTTTTTTTTTTTTTTGTGTTTTTTTGTTTTTTTTTTTTTTTGTGTTTTTTT (n.75-121_75-120insGTTTTTTTTTGTGTTTTTTTTTTTTTTTTTTTGTGTTTTTTTGTTTTTTTTTTTTTTTGTGTTTTTTT)
c.342-121_342-120insGTTTTTTTTTGTGTTTTTTTTTTTTTTTTTTTGTGTTTTTTTGTTTTTTTTTTTTTTTGTGTTTTTTT (n.342-121_342-120insGTTTTTTTTTGTGTTTTTTTTTTTTTTTTTTTGTGTTTTTTTGTTTTTTTTTTTTTTTGTGTTTTTTT)
Xg.1290219dupCA2411810725CSF2RAc.474-118dup (n.474-118dup)
c.*557-118dup (n.*557-118dup)
n.511-118dup
c.244+3021dup (n.244+3021dup)
c.75-118dup (n.75-118dup)
c.342-118dup (n.342-118dup)
dbSNP gnomAD v3 gnomAD v4
Xg.1290216_1290229delCA871305623CSF2RAc.474-121_474-108del (n.474-121_474-108del)
c.*557-121_*557-108del (n.*557-121_*557-108del)
n.511-121_511-108del
c.244+3018_244+3031del (n.244+3018_244+3031del)
c.75-121_75-108del (n.75-121_75-108del)
c.342-121_342-108del (n.342-121_342-108del)
dbSNP gnomAD v3 gnomAD v4
Xg.1290227_1290249delCA871305619CSF2RAc.474-110_474-88del (n.474-110_474-88del)
c.*557-110_*557-88del (n.*557-110_*557-88del)
n.511-110_511-88del
c.244+3029_244+3051del (n.244+3029_244+3051del)
c.75-110_75-88del (n.75-110_75-88del)
c.342-110_342-88del (n.342-110_342-88del)
dbSNP gnomAD v3 gnomAD v4
Xg.1290217T>CCA2692961273CSF2RAc.474-120T>C (n.474-120T>C)
c.*557-120T>C (n.*557-120T>C)
n.511-120T>C
c.244+3019T>C (n.244+3019T>C)
c.75-120T>C (n.75-120T>C)
c.342-120T>C (n.342-120T>C)
gnomAD v4
Xg.1290217T>GCA2692961274CSF2RAc.474-120T>G (n.474-120T>G)
c.*557-120T>G (n.*557-120T>G)
n.511-120T>G
c.244+3019T>G (n.244+3019T>G)
c.75-120T>G (n.75-120T>G)
c.342-120T>G (n.342-120T>G)
gnomAD v4
Xg.1290218T>GCA2692961275CSF2RAc.474-119T>G (n.474-119T>G)
c.*557-119T>G (n.*557-119T>G)
n.511-119T>G
c.244+3020T>G (n.244+3020T>G)
c.75-119T>G (n.75-119T>G)
c.342-119T>G (n.342-119T>G)
gnomAD v4
Xg.1290218_1290220delinsTTGCA2411810728CSF2RAc.474-119_474-117delinsTTG (n.474-119_474-117delinsTTG)
c.*557-119_*557-117delinsTTG (n.*557-119_*557-117delinsTTG)
n.511-119_511-117delinsTTG
c.244+3020_244+3022delinsTTG (n.244+3020_244+3022delinsTTG)
c.75-119_75-117delinsTTG (n.75-119_75-117delinsTTG)
c.342-119_342-117delinsTTG (n.342-119_342-117delinsTTG)
Xg.1290219T>GCA640360215CSF2RAc.474-118T>G (n.474-118T>G)
c.*557-118T>G (n.*557-118T>G)
n.511-118T>G
c.244+3021T>G (n.244+3021T>G)
c.75-118T>G (n.75-118T>G)
c.342-118T>G (n.342-118T>G)
dbSNP gnomAD v2
Xg.1290219T=CA2411810730CSF2RAc.474-118T= (n.474-118T=)
c.*557-118T= (n.*557-118T=)
n.511-118T=
c.244+3021T= (n.244+3021T=)
c.75-118T= (n.75-118T=)
c.342-118T= (n.342-118T=)
Xg.1290222_1290223delCA2411810729CSF2RAc.474-115_474-114del (n.474-115_474-114del)
c.*557-115_*557-114del (n.*557-115_*557-114del)
n.511-115_511-114del
c.244+3024_244+3025del (n.244+3024_244+3025del)
c.75-115_75-114del (n.75-115_75-114del)
c.342-115_342-114del (n.342-115_342-114del)
dbSNP gnomAD v4
Xg.1290220G>CCA2819390892CSF2RAc.474-117G>C (n.474-117G>C)
c.*557-117G>C (n.*557-117G>C)
n.511-117G>C
c.244+3022G>C (n.244+3022G>C)
c.75-117G>C (n.75-117G>C)
c.342-117G>C (n.342-117G>C)
Xg.1290220G=CA2411810731CSF2RAc.474-117G= (n.474-117G=)
c.*557-117G= (n.*557-117G=)
n.511-117G=
c.244+3022G= (n.244+3022G=)
c.75-117G= (n.75-117G=)
c.342-117G= (n.342-117G=)
Xg.1290220G>TCA325917398CSF2RAc.474-117G>T (n.474-117G>T)
c.*557-117G>T (n.*557-117G>T)
n.511-117G>T
c.244+3022G>T (n.244+3022G>T)
c.75-117G>T (n.75-117G>T)
c.342-117G>T (n.342-117G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290221T>GCA2692961276CSF2RAc.474-116T>G (n.474-116T>G)
c.*557-116T>G (n.*557-116T>G)
n.511-116T>G
c.244+3023T>G (n.244+3023T>G)
c.75-116T>G (n.75-116T>G)
c.342-116T>G (n.342-116T>G)
gnomAD v4
Xg.1290222G>ACA2692961277CSF2RAc.474-115G>A (n.474-115G>A)
c.*557-115G>A (n.*557-115G>A)
n.511-115G>A
c.244+3024G>A (n.244+3024G>A)
c.75-115G>A (n.75-115G>A)
c.342-115G>A (n.342-115G>A)
gnomAD v4
Xg.1290222G>CCA1130406549CSF2RAc.474-115G>C (n.474-115G>C)
c.*557-115G>C (n.*557-115G>C)
n.511-115G>C
c.244+3024G>C (n.244+3024G>C)
c.75-115G>C (n.75-115G>C)
c.342-115G>C (n.342-115G>C)
dbSNP gnomAD v3 gnomAD v4
Xg.1290222G=CA2411810732CSF2RAc.474-115G= (n.474-115G=)
c.*557-115G= (n.*557-115G=)
n.511-115G=
c.244+3024G= (n.244+3024G=)
c.75-115G= (n.75-115G=)
c.342-115G= (n.342-115G=)
Xg.1290222G>TCA871305629CSF2RAc.474-115G>T (n.474-115G>T)
c.*557-115G>T (n.*557-115G>T)
n.511-115G>T
c.244+3024G>T (n.244+3024G>T)
c.75-115G>T (n.75-115G>T)
c.342-115G>T (n.342-115G>T)
dbSNP gnomAD v3 gnomAD v4
Xg.1290222_1290223delinsGTCA2411810733CSF2RAc.474-115_474-114delinsGT (n.474-115_474-114delinsGT)
c.*557-115_*557-114delinsGT (n.*557-115_*557-114delinsGT)
n.511-115_511-114delinsGT
c.244+3024_244+3025delinsGT (n.244+3024_244+3025delinsGT)
c.75-115_75-114delinsGT (n.75-115_75-114delinsGT)
c.342-115_342-114delinsGT (n.342-115_342-114delinsGT)
Xg.1290223T>CCA871305633CSF2RAc.474-114T>C (n.474-114T>C)
c.*557-114T>C (n.*557-114T>C)
n.511-114T>C
c.244+3025T>C (n.244+3025T>C)
c.75-114T>C (n.75-114T>C)
c.342-114T>C (n.342-114T>C)
dbSNP gnomAD v3 gnomAD v4
Xg.1290223T>GCA2692961278CSF2RAc.474-114T>G (n.474-114T>G)
c.*557-114T>G (n.*557-114T>G)
n.511-114T>G
c.244+3025T>G (n.244+3025T>G)
c.75-114T>G (n.75-114T>G)
c.342-114T>G (n.342-114T>G)
gnomAD v4
Xg.1290223T=CA2411810734CSF2RAc.474-114T= (n.474-114T=)
c.*557-114T= (n.*557-114T=)
n.511-114T=
c.244+3025T= (n.244+3025T=)
c.75-114T= (n.75-114T=)
c.342-114T= (n.342-114T=)
Xg.1290227delCA871305631CSF2RAc.474-110del (n.474-110del)
c.*557-110del (n.*557-110del)
n.511-110del
c.244+3029del (n.244+3029del)
c.75-110del (n.75-110del)
c.342-110del (n.342-110del)
dbSNP gnomAD v3 gnomAD v4
Xg.1290224T>CCA2692961280CSF2RAc.474-113T>C (n.474-113T>C)
c.*557-113T>C (n.*557-113T>C)
n.511-113T>C
c.244+3026T>C (n.244+3026T>C)
c.75-113T>C (n.75-113T>C)
c.342-113T>C (n.342-113T>C)
gnomAD v4
Xg.1290235_1290241dupCA2692961279CSF2RAc.474-102_474-96dup (n.474-102_474-96dup)
c.*557-102_*557-96dup (n.*557-102_*557-96dup)
n.511-102_511-96dup
c.244+3037_244+3043dup (n.244+3037_244+3043dup)
c.75-102_75-96dup (n.75-102_75-96dup)
c.342-102_342-96dup (n.342-102_342-96dup)
gnomAD v4
Xg.1290235_1290283delCA2692961281CSF2RAc.474-102_474-54del (n.474-102_474-54del)
c.*557-102_*557-54del (n.*557-102_*557-54del)
n.511-102_511-54del
c.244+3037_244+3085del (n.244+3037_244+3085del)
c.75-102_75-54del (n.75-102_75-54del)
c.342-102_342-54del (n.342-102_342-54del)
gnomAD v4
Xg.1290225T>GCA1130406559CSF2RAc.474-112T>G (n.474-112T>G)
c.*557-112T>G (n.*557-112T>G)
n.511-112T>G
c.244+3027T>G (n.244+3027T>G)
c.75-112T>G (n.75-112T>G)
c.342-112T>G (n.342-112T>G)
gnomAD v3 gnomAD v4
Xg.1290225_1290228delinsTTTGCA2411810735CSF2RAc.474-112_474-109delinsTTTG (n.474-112_474-109delinsTTTG)
c.*557-112_*557-109delinsTTTG (n.*557-112_*557-109delinsTTTG)
n.511-112_511-109delinsTTTG
c.244+3027_244+3030delinsTTTG (n.244+3027_244+3030delinsTTTG)
c.75-112_75-109delinsTTTG (n.75-112_75-109delinsTTTG)
c.342-112_342-109delinsTTTG (n.342-112_342-109delinsTTTG)
Xg.1290226_1290228delinsTTGCA2411810737CSF2RAc.474-111_474-109delinsTTG (n.474-111_474-109delinsTTG)
c.*557-111_*557-109delinsTTG (n.*557-111_*557-109delinsTTG)
n.511-111_511-109delinsTTG
c.244+3028_244+3030delinsTTG (n.244+3028_244+3030delinsTTG)
c.75-111_75-109delinsTTG (n.75-111_75-109delinsTTG)
c.342-111_342-109delinsTTG (n.342-111_342-109delinsTTG)
Xg.1290227_1290229delCA2411810736CSF2RAc.474-110_474-108del (n.474-110_474-108del)
c.*557-110_*557-108del (n.*557-110_*557-108del)
n.511-110_511-108del
c.244+3029_244+3031del (n.244+3029_244+3031del)
c.75-110_75-108del (n.75-110_75-108del)
c.342-110_342-108del (n.342-110_342-108del)
dbSNP
Xg.1290227T>ACA2692961282CSF2RAc.474-110T>A (n.474-110T>A)
c.*557-110T>A (n.*557-110T>A)
n.511-110T>A
c.244+3029T>A (n.244+3029T>A)
c.75-110T>A (n.75-110T>A)
c.342-110T>A (n.342-110T>A)
gnomAD v4
Xg.1290227T>CCA325917400CSF2RAc.474-110T>C (n.474-110T>C)
c.*557-110T>C (n.*557-110T>C)
n.511-110T>C
c.244+3029T>C (n.244+3029T>C)
c.75-110T>C (n.75-110T>C)
c.342-110T>C (n.342-110T>C)
dbSNP gnomAD v3 gnomAD v4
Xg.1290227T>GCA2692961283CSF2RAc.474-110T>G (n.474-110T>G)
c.*557-110T>G (n.*557-110T>G)
n.511-110T>G
c.244+3029T>G (n.244+3029T>G)
c.75-110T>G (n.75-110T>G)
c.342-110T>G (n.342-110T>G)
gnomAD v4
Xg.1290227T=CA2411810739CSF2RAc.474-110T= (n.474-110T=)
c.*557-110T= (n.*557-110T=)
n.511-110T=
c.244+3029T= (n.244+3029T=)
c.75-110T= (n.75-110T=)
c.342-110T= (n.342-110T=)
Xg.1290230_1290231delCA2411810738CSF2RAc.474-107_474-106del (n.474-107_474-106del)
c.*557-107_*557-106del (n.*557-107_*557-106del)
n.511-107_511-106del
c.244+3032_244+3033del (n.244+3032_244+3033del)
c.75-107_75-106del (n.75-107_75-106del)
c.342-107_342-106del (n.342-107_342-106del)
dbSNP gnomAD v4
Xg.1290228G>ACA2692961284CSF2RAc.474-109G>A (n.474-109G>A)
c.*557-109G>A (n.*557-109G>A)
n.511-109G>A
c.244+3030G>A (n.244+3030G>A)
c.75-109G>A (n.75-109G>A)
c.342-109G>A (n.342-109G>A)
gnomAD v4
Xg.1290228G=CA2411810740CSF2RAc.474-109G= (n.474-109G=)
c.*557-109G= (n.*557-109G=)
n.511-109G=
c.244+3030G= (n.244+3030G=)
c.75-109G= (n.75-109G=)
c.342-109G= (n.342-109G=)
Xg.1290228G>TCA871305639CSF2RAc.474-109G>T (n.474-109G>T)
c.*557-109G>T (n.*557-109G>T)
n.511-109G>T
c.244+3030G>T (n.244+3030G>T)
c.75-109G>T (n.75-109G>T)
c.342-109G>T (n.342-109G>T)
dbSNP gnomAD v3 gnomAD v4
Xg.1290228_1290229delinsGTCA2411810741CSF2RAc.474-109_474-108delinsGT (n.474-109_474-108delinsGT)
c.*557-109_*557-108delinsGT (n.*557-109_*557-108delinsGT)
n.511-109_511-108delinsGT
c.244+3030_244+3031delinsGT (n.244+3030_244+3031delinsGT)
c.75-109_75-108delinsGT (n.75-109_75-108delinsGT)
c.342-109_342-108delinsGT (n.342-109_342-108delinsGT)
Xg.1290228_1290238delinsGTGTTTTGTGTCA2411810742CSF2RAc.474-109_474-99delinsGTGTTTTGTGT (n.474-109_474-99delinsGTGTTTTGTGT)
c.*557-109_*557-99delinsGTGTTTTGTGT (n.*557-109_*557-99delinsGTGTTTTGTGT)
n.511-109_511-99delinsGTGTTTTGTGT
c.244+3030_244+3040delinsGTGTTTTGTGT (n.244+3030_244+3040delinsGTGTTTTGTGT)
c.75-109_75-99delinsGTGTTTTGTGT (n.75-109_75-99delinsGTGTTTTGTGT)
c.342-109_342-99delinsGTGTTTTGTGT (n.342-109_342-99delinsGTGTTTTGTGT)
Xg.1290229delCA2411810745CSF2RAc.474-108del (n.474-108del)
c.*557-108del (n.*557-108del)
n.511-108del
c.244+3031del (n.244+3031del)
c.75-108del (n.75-108del)
c.342-108del (n.342-108del)
dbSNP
Xg.1290229T>CCA1130406576CSF2RAc.474-108T>C (n.474-108T>C)
c.*557-108T>C (n.*557-108T>C)
n.511-108T>C
c.244+3031T>C (n.244+3031T>C)
c.75-108T>C (n.75-108T>C)
c.342-108T>C (n.342-108T>C)
dbSNP gnomAD v3 gnomAD v4
Xg.1290229T=CA2411810744CSF2RAc.474-108T= (n.474-108T=)
c.*557-108T= (n.*557-108T=)
n.511-108T=
c.244+3031T= (n.244+3031T=)
c.75-108T= (n.75-108T=)
c.342-108T= (n.342-108T=)
Xg.1290230_1290239delCA2411810743CSF2RAc.474-107_474-98del (n.474-107_474-98del)
c.*557-107_*557-98del (n.*557-107_*557-98del)
n.511-107_511-98del
c.244+3032_244+3041del (n.244+3032_244+3041del)
c.75-107_75-98del (n.75-107_75-98del)
c.342-107_342-98del (n.342-107_342-98del)
dbSNP
Xg.1290241_1290260delCA2692961285CSF2RAc.474-96_474-77del (n.474-96_474-77del)
c.*557-96_*557-77del (n.*557-96_*557-77del)
n.511-96_511-77del
c.244+3043_244+3062del (n.244+3043_244+3062del)
c.75-96_75-77del (n.75-96_75-77del)
c.342-96_342-77del (n.342-96_342-77del)
gnomAD v4
Xg.1290257_1290298dupCA1130406571CSF2RAc.474-80_474-39dup (n.474-80_474-39dup)
c.*557-80_*557-39dup (n.*557-80_*557-39dup)
n.511-80_511-39dup
c.244+3059_244+3100dup (n.244+3059_244+3100dup)
c.75-80_75-39dup (n.75-80_75-39dup)
c.342-80_342-39dup (n.342-80_342-39dup)
dbSNP gnomAD v3 gnomAD v4
Xg.1290257_1290298delCA1130406567CSF2RAc.474-80_474-39del (n.474-80_474-39del)
c.*557-80_*557-39del (n.*557-80_*557-39del)
n.511-80_511-39del
c.244+3059_244+3100del (n.244+3059_244+3100del)
c.75-80_75-39del (n.75-80_75-39del)
c.342-80_342-39del (n.342-80_342-39del)
gnomAD v3 gnomAD v4
Xg.1290230G>ACA2522862741CSF2RAc.474-107G>A (n.474-107G>A)
c.*557-107G>A (n.*557-107G>A)
n.511-107G>A
c.244+3032G>A (n.244+3032G>A)
c.75-107G>A (n.75-107G>A)
c.342-107G>A (n.342-107G>A)
Xg.1290230G>TCA2692961286CSF2RAc.474-107G>T (n.474-107G>T)
c.*557-107G>T (n.*557-107G>T)
n.511-107G>T
c.244+3032G>T (n.244+3032G>T)
c.75-107G>T (n.75-107G>T)
c.342-107G>T (n.342-107G>T)
gnomAD v4
Xg.1290231T>CCA2692961288CSF2RAc.474-106T>C (n.474-106T>C)
c.*557-106T>C (n.*557-106T>C)
n.511-106T>C
c.244+3033T>C (n.244+3033T>C)
c.75-106T>C (n.75-106T>C)
c.342-106T>C (n.342-106T>C)
gnomAD v4
Xg.1290231T>GCA2692961289CSF2RAc.474-106T>G (n.474-106T>G)
c.*557-106T>G (n.*557-106T>G)
n.511-106T>G
c.244+3033T>G (n.244+3033T>G)
c.75-106T>G (n.75-106T>G)
c.342-106T>G (n.342-106T>G)
gnomAD v4
Xg.1290234dupCA2692961287CSF2RAc.474-103dup (n.474-103dup)
c.*557-103dup (n.*557-103dup)
n.511-103dup
c.244+3036dup (n.244+3036dup)
c.75-103dup (n.75-103dup)
c.342-103dup (n.342-103dup)
gnomAD v4
Xg.1290242_1290249dupCA2819390893CSF2RAc.474-95_474-88dup (n.474-95_474-88dup)
c.*557-95_*557-88dup (n.*557-95_*557-88dup)
n.511-95_511-88dup
c.244+3044_244+3051dup (n.244+3044_244+3051dup)
c.75-95_75-88dup (n.75-95_75-88dup)
c.342-95_342-88dup (n.342-95_342-88dup)
Xg.1290233_1290243delinsTTGTGTTTTTGCA2411810746CSF2RAc.474-104_474-94delinsTTGTGTTTTTG (n.474-104_474-94delinsTTGTGTTTTTG)
c.*557-104_*557-94delinsTTGTGTTTTTG (n.*557-104_*557-94delinsTTGTGTTTTTG)
n.511-104_511-94delinsTTGTGTTTTTG
c.244+3035_244+3045delinsTTGTGTTTTTG (n.244+3035_244+3045delinsTTGTGTTTTTG)
c.75-104_75-94delinsTTGTGTTTTTG (n.75-104_75-94delinsTTGTGTTTTTG)
c.342-104_342-94delinsTTGTGTTTTTG (n.342-104_342-94delinsTTGTGTTTTTG)
Xg.1290234T>CCA2692961290CSF2RAc.474-103T>C (n.474-103T>C)
c.*557-103T>C (n.*557-103T>C)
n.511-103T>C
c.244+3036T>C (n.244+3036T>C)
c.75-103T>C (n.75-103T>C)
c.342-103T>C (n.342-103T>C)
gnomAD v4
Xg.1290237_1290246delCA640360218CSF2RAc.474-100_474-91del (n.474-100_474-91del)
c.*557-100_*557-91del (n.*557-100_*557-91del)
n.511-100_511-91del
c.244+3039_244+3048del (n.244+3039_244+3048del)
c.75-100_75-91del (n.75-100_75-91del)
c.342-100_342-91del (n.342-100_342-91del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290235G>CCA2692961291CSF2RAc.474-102G>C (n.474-102G>C)
c.*557-102G>C (n.*557-102G>C)
n.511-102G>C
c.244+3037G>C (n.244+3037G>C)
c.75-102G>C (n.75-102G>C)
c.342-102G>C (n.342-102G>C)
gnomAD v4
Xg.1290235G>TCA1130406585CSF2RAc.474-102G>T (n.474-102G>T)
c.*557-102G>T (n.*557-102G>T)
n.511-102G>T
c.244+3037G>T (n.244+3037G>T)
c.75-102G>T (n.75-102G>T)
c.342-102G>T (n.342-102G>T)
gnomAD v3 gnomAD v4
Xg.1290235_1290238delinsGTGTCA2411810747CSF2RAc.474-102_474-99delinsGTGT (n.474-102_474-99delinsGTGT)
c.*557-102_*557-99delinsGTGT (n.*557-102_*557-99delinsGTGT)
n.511-102_511-99delinsGTGT
c.244+3037_244+3040delinsGTGT (n.244+3037_244+3040delinsGTGT)
c.75-102_75-99delinsGTGT (n.75-102_75-99delinsGTGT)
c.342-102_342-99delinsGTGT (n.342-102_342-99delinsGTGT)
Xg.1290236T>CCA2692961293CSF2RAc.474-101T>C (n.474-101T>C)
c.*557-101T>C (n.*557-101T>C)
n.511-101T>C
c.244+3038T>C (n.244+3038T>C)
c.75-101T>C (n.75-101T>C)
c.342-101T>C (n.342-101T>C)
gnomAD v4
Xg.1290237_1290239delCA2411810748CSF2RAc.474-100_474-98del (n.474-100_474-98del)
c.*557-100_*557-98del (n.*557-100_*557-98del)
n.511-100_511-98del
c.244+3039_244+3041del (n.244+3039_244+3041del)
c.75-100_75-98del (n.75-100_75-98del)
c.342-100_342-98del (n.342-100_342-98del)
dbSNP
Xg.1290236_1290242delCA2819390894CSF2RAc.474-101_474-95del (n.474-101_474-95del)
c.*557-101_*557-95del (n.*557-101_*557-95del)
n.511-101_511-95del
c.244+3038_244+3044del (n.244+3038_244+3044del)
c.75-101_75-95del (n.75-101_75-95del)
c.342-101_342-95del (n.342-101_342-95del)
Xg.1290236_1290249dupCA2692961292CSF2RAc.474-101_474-88dup (n.474-101_474-88dup)
c.*557-101_*557-88dup (n.*557-101_*557-88dup)
n.511-101_511-88dup
c.244+3038_244+3051dup (n.244+3038_244+3051dup)
c.75-101_75-88dup (n.75-101_75-88dup)
c.342-101_342-88dup (n.342-101_342-88dup)
gnomAD v4
Xg.1290237G>ACA2692961295CSF2RAc.474-100G>A (n.474-100G>A)
c.*557-100G>A (n.*557-100G>A)
n.511-100G>A
c.244+3039G>A (n.244+3039G>A)
c.75-100G>A (n.75-100G>A)
c.342-100G>A (n.342-100G>A)
gnomAD v4
Xg.1290237G>TCA2692961294CSF2RAc.474-100G>T (n.474-100G>T)
c.*557-100G>T (n.*557-100G>T)
n.511-100G>T
c.244+3039G>T (n.244+3039G>T)
c.75-100G>T (n.75-100G>T)
c.342-100G>T (n.342-100G>T)
gnomAD v4
Xg.1290242delCA2692961296CSF2RAc.474-95del (n.474-95del)
c.*557-95del (n.*557-95del)
n.511-95del
c.244+3044del (n.244+3044del)
c.75-95del (n.75-95del)
c.342-95del (n.342-95del)
gnomAD v4
Xg.1290238_1290250delinsTTTTTGTGTTTTGCA2411810749CSF2RAc.474-99_474-87delinsTTTTTGTGTTTTG (n.474-99_474-87delinsTTTTTGTGTTTTG)
c.*557-99_*557-87delinsTTTTTGTGTTTTG (n.*557-99_*557-87delinsTTTTTGTGTTTTG)
n.511-99_511-87delinsTTTTTGTGTTTTG
c.244+3040_244+3052delinsTTTTTGTGTTTTG (n.244+3040_244+3052delinsTTTTTGTGTTTTG)
c.75-99_75-87delinsTTTTTGTGTTTTG (n.75-99_75-87delinsTTTTTGTGTTTTG)
c.342-99_342-87delinsTTTTTGTGTTTTG (n.342-99_342-87delinsTTTTTGTGTTTTG)
Xg.1290249_1290260delCA1130406586CSF2RAc.474-88_474-77del (n.474-88_474-77del)
c.*557-88_*557-77del (n.*557-88_*557-77del)
n.511-88_511-77del
c.244+3051_244+3062del (n.244+3051_244+3062del)
c.75-88_75-77del (n.75-88_75-77del)
c.342-88_342-77del (n.342-88_342-77del)
dbSNP gnomAD v3 gnomAD v4
Xg.1290243G>ACA2692961297CSF2RAc.474-94G>A (n.474-94G>A)
c.*557-94G>A (n.*557-94G>A)
n.511-94G>A
c.244+3045G>A (n.244+3045G>A)
c.75-94G>A (n.75-94G>A)
c.342-94G>A (n.342-94G>A)
gnomAD v4
Xg.1290243G>CCA640360221CSF2RAc.474-94G>C (n.474-94G>C)
c.*557-94G>C (n.*557-94G>C)
n.511-94G>C
c.244+3045G>C (n.244+3045G>C)
c.75-94G>C (n.75-94G>C)
c.342-94G>C (n.342-94G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290243G=CA2411810751CSF2RAc.474-94G= (n.474-94G=)
c.*557-94G= (n.*557-94G=)
n.511-94G=
c.244+3045G= (n.244+3045G=)
c.75-94G= (n.75-94G=)
c.342-94G= (n.342-94G=)
Xg.1290243G>TCA2692961298CSF2RAc.474-94G>T (n.474-94G>T)
c.*557-94G>T (n.*557-94G>T)
n.511-94G>T
c.244+3045G>T (n.244+3045G>T)
c.75-94G>T (n.75-94G>T)
c.342-94G>T (n.342-94G>T)
gnomAD v4
Xg.1290243_1290248delinsGTGTTTCA2411810750CSF2RAc.474-94_474-89delinsGTGTTT (n.474-94_474-89delinsGTGTTT)
c.*557-94_*557-89delinsGTGTTT (n.*557-94_*557-89delinsGTGTTT)
n.511-94_511-89delinsGTGTTT
c.244+3045_244+3050delinsGTGTTT (n.244+3045_244+3050delinsGTGTTT)
c.75-94_75-89delinsGTGTTT (n.75-94_75-89delinsGTGTTT)
c.342-94_342-89delinsGTGTTT (n.342-94_342-89delinsGTGTTT)
Xg.1290243_1290265delinsGTGTTTTGTTTTGTGTTTGTTTTCA2411810753CSF2RAc.474-94_474-72delinsGTGTTTTGTTTTGTGTTTGTTTT (n.474-94_474-72delinsGTGTTTTGTTTTGTGTTTGTTTT)
c.*557-94_*557-72delinsGTGTTTTGTTTTGTGTTTGTTTT (n.*557-94_*557-72delinsGTGTTTTGTTTTGTGTTTGTTTT)
n.511-94_511-72delinsGTGTTTTGTTTTGTGTTTGTTTT
c.244+3045_244+3067delinsGTGTTTTGTTTTGTGTTTGTTTT (n.244+3045_244+3067delinsGTGTTTTGTTTTGTGTTTGTTTT)
c.75-94_75-72delinsGTGTTTTGTTTTGTGTTTGTTTT (n.75-94_75-72delinsGTGTTTTGTTTTGTGTTTGTTTT)
c.342-94_342-72delinsGTGTTTTGTTTTGTGTTTGTTTT (n.342-94_342-72delinsGTGTTTTGTTTTGTGTTTGTTTT)
Xg.1290243_1290270delinsGTGTTTTGTTTTGTGTTTGTTTTTGTTTCA2411810752CSF2RAc.474-94_474-67delinsGTGTTTTGTTTTGTGTTTGTTTTTGTTT (n.474-94_474-67delinsGTGTTTTGTTTTGTGTTTGTTTTTGTTT)
c.*557-94_*557-67delinsGTGTTTTGTTTTGTGTTTGTTTTTGTTT (n.*557-94_*557-67delinsGTGTTTTGTTTTGTGTTTGTTTTTGTTT)
n.511-94_511-67delinsGTGTTTTGTTTTGTGTTTGTTTTTGTTT
c.244+3045_244+3072delinsGTGTTTTGTTTTGTGTTTGTTTTTGTTT (n.244+3045_244+3072delinsGTGTTTTGTTTTGTGTTTGTTTTTGTTT)
c.75-94_75-67delinsGTGTTTTGTTTTGTGTTTGTTTTTGTTT (n.75-94_75-67delinsGTGTTTTGTTTTGTGTTTGTTTTTGTTT)
c.342-94_342-67delinsGTGTTTTGTTTTGTGTTTGTTTTTGTTT (n.342-94_342-67delinsGTGTTTTGTTTTGTGTTTGTTTTTGTTT)
Xg.1290252_1290256dupCA2692961299CSF2RAc.474-85_474-81dup (n.474-85_474-81dup)
c.*557-85_*557-81dup (n.*557-85_*557-81dup)
n.511-85_511-81dup
c.244+3054_244+3058dup (n.244+3054_244+3058dup)
c.75-85_75-81dup (n.75-85_75-81dup)
c.342-85_342-81dup (n.342-85_342-81dup)
gnomAD v4
Xg.1290252_1290256delCA640360223CSF2RAc.474-85_474-81del (n.474-85_474-81del)
c.*557-85_*557-81del (n.*557-85_*557-81del)
n.511-85_511-81del
c.244+3054_244+3058del (n.244+3054_244+3058del)
c.75-85_75-81del (n.75-85_75-81del)
c.342-85_342-81del (n.342-85_342-81del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290252_1290278delCA1130406598CSF2RAc.474-85_474-59del (n.474-85_474-59del)
c.*557-85_*557-59del (n.*557-85_*557-59del)
n.511-85_511-59del
c.244+3054_244+3080del (n.244+3054_244+3080del)
c.75-85_75-59del (n.75-85_75-59del)
c.342-85_342-59del (n.342-85_342-59del)
dbSNP gnomAD v3 gnomAD v4
Xg.1290261_1290282delCA1130406594CSF2RAc.474-76_474-55del (n.474-76_474-55del)
c.*557-76_*557-55del (n.*557-76_*557-55del)
n.511-76_511-55del
c.244+3063_244+3084del (n.244+3063_244+3084del)
c.75-76_75-55del (n.75-76_75-55del)
c.342-76_342-55del (n.342-76_342-55del)
dbSNP gnomAD v3 gnomAD v4
Xg.1290245G=CA2411810754CSF2RAc.474-92G= (n.474-92G=)
c.*557-92G= (n.*557-92G=)
n.511-92G=
c.244+3047G= (n.244+3047G=)
c.75-92G= (n.75-92G=)
c.342-92G= (n.342-92G=)
Xg.1290245G>TCA325917402CSF2RAc.474-92G>T (n.474-92G>T)
c.*557-92G>T (n.*557-92G>T)
n.511-92G>T
c.244+3047G>T (n.244+3047G>T)
c.75-92G>T (n.75-92G>T)
c.342-92G>T (n.342-92G>T)
dbSNP gnomAD v3 gnomAD v4
Xg.1290246T>CCA2411810756CSF2RAc.474-91T>C (n.474-91T>C)
c.*557-91T>C (n.*557-91T>C)
n.511-91T>C
c.244+3048T>C (n.244+3048T>C)
c.75-91T>C (n.75-91T>C)
c.342-91T>C (n.342-91T>C)
dbSNP gnomAD v4
Xg.1290246T=CA2411810755CSF2RAc.474-91T= (n.474-91T=)
c.*557-91T= (n.*557-91T=)
n.511-91T=
c.244+3048T= (n.244+3048T=)
c.75-91T= (n.75-91T=)
c.342-91T= (n.342-91T=)
Xg.1290255_1290265delCA2692961300CSF2RAc.474-82_474-72del (n.474-82_474-72del)
c.*557-82_*557-72del (n.*557-82_*557-72del)
n.511-82_511-72del
c.244+3057_244+3067del (n.244+3057_244+3067del)
c.75-82_75-72del (n.75-82_75-72del)
c.342-82_342-72del (n.342-82_342-72del)
gnomAD v4
Xg.1290248T>CCA2692961301CSF2RAc.474-89T>C (n.474-89T>C)
c.*557-89T>C (n.*557-89T>C)
n.511-89T>C
c.244+3050T>C (n.244+3050T>C)
c.75-89T>C (n.75-89T>C)
c.342-89T>C (n.342-89T>C)
gnomAD v4
Xg.1290248T>GCA2411810758CSF2RAc.474-89T>G (n.474-89T>G)
c.*557-89T>G (n.*557-89T>G)
n.511-89T>G
c.244+3050T>G (n.244+3050T>G)
c.75-89T>G (n.75-89T>G)
c.342-89T>G (n.342-89T>G)
dbSNP
Xg.1290248T=CA2411810757CSF2RAc.474-89T= (n.474-89T=)
c.*557-89T= (n.*557-89T=)
n.511-89T=
c.244+3050T= (n.244+3050T=)
c.75-89T= (n.75-89T=)
c.342-89T= (n.342-89T=)
Xg.1290250G>TCA2692961302CSF2RAc.474-87G>T (n.474-87G>T)
c.*557-87G>T (n.*557-87G>T)
n.511-87G>T
c.244+3052G>T (n.244+3052G>T)
c.75-87G>T (n.75-87G>T)
c.342-87G>T (n.342-87G>T)
gnomAD v4
Xg.1290250_1290259delinsGTTTTGTGTTCA2411810759CSF2RAc.474-87_474-78delinsGTTTTGTGTT (n.474-87_474-78delinsGTTTTGTGTT)
c.*557-87_*557-78delinsGTTTTGTGTT (n.*557-87_*557-78delinsGTTTTGTGTT)
n.511-87_511-78delinsGTTTTGTGTT
c.244+3052_244+3061delinsGTTTTGTGTT (n.244+3052_244+3061delinsGTTTTGTGTT)
c.75-87_75-78delinsGTTTTGTGTT (n.75-87_75-78delinsGTTTTGTGTT)
c.342-87_342-78delinsGTTTTGTGTT (n.342-87_342-78delinsGTTTTGTGTT)
Xg.1290251T>CCA2692961304CSF2RAc.474-86T>C (n.474-86T>C)
c.*557-86T>C (n.*557-86T>C)
n.511-86T>C
c.244+3053T>C (n.244+3053T>C)
c.75-86T>C (n.75-86T>C)
c.342-86T>C (n.342-86T>C)
gnomAD v4
Xg.1290254delCA2692961303CSF2RAc.474-83del (n.474-83del)
c.*557-83del (n.*557-83del)
n.511-83del
c.244+3056del (n.244+3056del)
c.75-83del (n.75-83del)
c.342-83del (n.342-83del)
gnomAD v4
Xg.1290252_1290260delCA2411810760CSF2RAc.474-85_474-77del (n.474-85_474-77del)
c.*557-85_*557-77del (n.*557-85_*557-77del)
n.511-85_511-77del
c.244+3054_244+3062del (n.244+3054_244+3062del)
c.75-85_75-77del (n.75-85_75-77del)
c.342-85_342-77del (n.342-85_342-77del)
dbSNP
Xg.1290252T>CCA2692961305CSF2RAc.474-85T>C (n.474-85T>C)
c.*557-85T>C (n.*557-85T>C)
n.511-85T>C
c.244+3054T>C (n.244+3054T>C)
c.75-85T>C (n.75-85T>C)
c.342-85T>C (n.342-85T>C)
gnomAD v4
Xg.1290253T>CCA2692961306CSF2RAc.474-84T>C (n.474-84T>C)
c.*557-84T>C (n.*557-84T>C)
n.511-84T>C
c.244+3055T>C (n.244+3055T>C)
c.75-84T>C (n.75-84T>C)
c.342-84T>C (n.342-84T>C)
gnomAD v4
Xg.1290253_1290255delinsTTGCA2411810761CSF2RAc.474-84_474-82delinsTTG (n.474-84_474-82delinsTTG)
c.*557-84_*557-82delinsTTG (n.*557-84_*557-82delinsTTG)
n.511-84_511-82delinsTTG
c.244+3055_244+3057delinsTTG (n.244+3055_244+3057delinsTTG)
c.75-84_75-82delinsTTG (n.75-84_75-82delinsTTG)
c.342-84_342-82delinsTTG (n.342-84_342-82delinsTTG)
Xg.1290257_1290258delCA640360225CSF2RAc.474-80_474-79del (n.474-80_474-79del)
c.*557-80_*557-79del (n.*557-80_*557-79del)
n.511-80_511-79del
c.244+3059_244+3060del (n.244+3059_244+3060del)
c.75-80_75-79del (n.75-80_75-79del)
c.342-80_342-79del (n.342-80_342-79del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290255G>ACA2411810764CSF2RAc.474-82G>A (n.474-82G>A)
c.*557-82G>A (n.*557-82G>A)
n.511-82G>A
c.244+3057G>A (n.244+3057G>A)
c.75-82G>A (n.75-82G>A)
c.342-82G>A (n.342-82G>A)
dbSNP
Xg.1290255G>CCA640360226CSF2RAc.474-82G>C (n.474-82G>C)
c.*557-82G>C (n.*557-82G>C)
n.511-82G>C
c.244+3057G>C (n.244+3057G>C)
c.75-82G>C (n.75-82G>C)
c.342-82G>C (n.342-82G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.1290255G=CA2411810763CSF2RAc.474-82G= (n.474-82G=)
c.*557-82G= (n.*557-82G=)
n.511-82G=
c.244+3057G= (n.244+3057G=)
c.75-82G= (n.75-82G=)
c.342-82G= (n.342-82G=)
Xg.1290255G>TCA2692961307CSF2RAc.474-82G>T (n.474-82G>T)
c.*557-82G>T (n.*557-82G>T)
n.511-82G>T
c.244+3057G>T (n.244+3057G>T)
c.75-82G>T (n.75-82G>T)
c.342-82G>T (n.342-82G>T)
gnomAD v4
Xg.1290255_1290259delinsGTGTTCA2411810762CSF2RAc.474-82_474-78delinsGTGTT (n.474-82_474-78delinsGTGTT)
c.*557-82_*557-78delinsGTGTT (n.*557-82_*557-78delinsGTGTT)
n.511-82_511-78delinsGTGTT
c.244+3057_244+3061delinsGTGTT (n.244+3057_244+3061delinsGTGTT)
c.75-82_75-78delinsGTGTT (n.75-82_75-78delinsGTGTT)
c.342-82_342-78delinsGTGTT (n.342-82_342-78delinsGTGTT)
Xg.1290261_1290264delCA871305666CSF2RAc.474-76_474-73del (n.474-76_474-73del)
c.*557-76_*557-73del (n.*557-76_*557-73del)
n.511-76_511-73del
c.244+3063_244+3066del (n.244+3063_244+3066del)
c.75-76_75-73del (n.75-76_75-73del)
c.342-76_342-73del (n.342-76_342-73del)
dbSNP gnomAD v3 gnomAD v4
Xg.1290257G>ACA2692961308CSF2RAc.474-80G>A (n.474-80G>A)
c.*557-80G>A (n.*557-80G>A)
n.511-80G>A
c.244+3059G>A (n.244+3059G>A)
c.75-80G>A (n.75-80G>A)
c.342-80G>A (n.342-80G>A)
gnomAD v4
Xg.1290257G>CCA2692961309CSF2RAc.474-80G>C (n.474-80G>C)
c.*557-80G>C (n.*557-80G>C)
n.511-80G>C
c.244+3059G>C (n.244+3059G>C)
c.75-80G>C (n.75-80G>C)
c.342-80G>C (n.342-80G>C)
gnomAD v4
Xg.1290257G>TCA2572445454CSF2RAc.474-80G>T (n.474-80G>T)
c.*557-80G>T (n.*557-80G>T)
n.511-80G>T
c.244+3059G>T (n.244+3059G>T)
c.75-80G>T (n.75-80G>T)
c.342-80G>T (n.342-80G>T)
gnomAD v4
Xg.1290258T>CCA871305672CSF2RAc.474-79T>C (n.474-79T>C)
c.*557-79T>C (n.*557-79T>C)
n.511-79T>C
c.244+3060T>C (n.244+3060T>C)
c.75-79T>C (n.75-79T>C)
c.342-79T>C (n.342-79T>C)
dbSNP gnomAD v3 gnomAD v4
Xg.1290258T>GCA2692961310CSF2RAc.474-79T>G (n.474-79T>G)
c.*557-79T>G (n.*557-79T>G)
n.511-79T>G
c.244+3060T>G (n.244+3060T>G)
c.75-79T>G (n.75-79T>G)
c.342-79T>G (n.342-79T>G)
gnomAD v4
Xg.1290258T=CA2411810765CSF2RAc.474-79T= (n.474-79T=)
c.*557-79T= (n.*557-79T=)
n.511-79T=
c.244+3060T= (n.244+3060T=)
c.75-79T= (n.75-79T=)
c.342-79T= (n.342-79T=)
Xg.1290260delCA2819390895CSF2RAc.474-77del (n.474-77del)
c.*557-77del (n.*557-77del)
n.511-77del
c.244+3062del (n.244+3062del)
c.75-77del (n.75-77del)
c.342-77del (n.342-77del)
Xg.1290259T>CCA2692961311CSF2RAc.474-78T>C (n.474-78T>C)
c.*557-78T>C (n.*557-78T>C)
n.511-78T>C
c.244+3061T>C (n.244+3061T>C)
c.75-78T>C (n.75-78T>C)
c.342-78T>C (n.342-78T>C)
gnomAD v4
Xg.1290259_1290261delinsTTGCA2411810766CSF2RAc.474-78_474-76delinsTTG (n.474-78_474-76delinsTTG)
c.*557-78_*557-76delinsTTG (n.*557-78_*557-76delinsTTG)
n.511-78_511-76delinsTTG
c.244+3061_244+3063delinsTTG (n.244+3061_244+3063delinsTTG)
c.75-78_75-76delinsTTG (n.75-78_75-76delinsTTG)
c.342-78_342-76delinsTTG (n.342-78_342-76delinsTTG)
Xg.1290261_1290262delCA2411810767CSF2RAc.474-76_474-75del (n.474-76_474-75del)
c.*557-76_*557-75del (n.*557-76_*557-75del)
n.511-76_511-75del
c.244+3063_244+3064del (n.244+3063_244+3064del)
c.75-76_75-75del (n.75-76_75-75del)
c.342-76_342-75del (n.342-76_342-75del)
dbSNP
Xg.1290261G>CCA2819390896CSF2RAc.474-76G>C (n.474-76G>C)
c.*557-76G>C (n.*557-76G>C)
n.511-76G>C
c.244+3063G>C (n.244+3063G>C)
c.75-76G>C (n.75-76G>C)
c.342-76G>C (n.342-76G>C)
Xg.1290261G>TCA2692961312CSF2RAc.474-76G>T (n.474-76G>T)
c.*557-76G>T (n.*557-76G>T)
n.511-76G>T
c.244+3063G>T (n.244+3063G>T)
c.75-76G>T (n.75-76G>T)
c.342-76G>T (n.342-76G>T)
gnomAD v4
Xg.1290262T>CCA2692961314CSF2RAc.474-75T>C (n.474-75T>C)
c.*557-75T>C (n.*557-75T>C)
n.511-75T>C
c.244+3064T>C (n.244+3064T>C)
c.75-75T>C (n.75-75T>C)
c.342-75T>C (n.342-75T>C)
gnomAD v4
Xg.1290266delCA2692961313CSF2RAc.474-71del (n.474-71del)
c.*557-71del (n.*557-71del)
n.511-71del
c.244+3068del (n.244+3068del)
c.75-71del (n.75-71del)
c.342-71del (n.342-71del)
gnomAD v4
Xg.1290262_1290267delinsTTTTTGCA2411810768CSF2RAc.474-75_474-70delinsTTTTTG (n.474-75_474-70delinsTTTTTG)
c.*557-75_*557-70delinsTTTTTG (n.*557-75_*557-70delinsTTTTTG)
n.511-75_511-70delinsTTTTTG
c.244+3064_244+3069delinsTTTTTG (n.244+3064_244+3069delinsTTTTTG)
c.75-75_75-70delinsTTTTTG (n.75-75_75-70delinsTTTTTG)
c.342-75_342-70delinsTTTTTG (n.342-75_342-70delinsTTTTTG)
Xg.1290263T>ACA871305681CSF2RAc.474-74T>A (n.474-74T>A)
c.*557-74T>A (n.*557-74T>A)
n.511-74T>A
c.244+3065T>A (n.244+3065T>A)
c.75-74T>A (n.75-74T>A)
c.342-74T>A (n.342-74T>A)
dbSNP gnomAD v3 gnomAD v4
Xg.1290263T>GCA2692961315CSF2RAc.474-74T>G (n.474-74T>G)
c.*557-74T>G (n.*557-74T>G)
n.511-74T>G
c.244+3065T>G (n.244+3065T>G)
c.75-74T>G (n.75-74T>G)
c.342-74T>G (n.342-74T>G)
gnomAD v4
Xg.1290263T=CA2411810769CSF2RAc.474-74T= (n.474-74T=)
c.*557-74T= (n.*557-74T=)
n.511-74T=
c.244+3065T= (n.244+3065T=)
c.75-74T= (n.75-74T=)
c.342-74T= (n.342-74T=)
Xg.1290274_1290278delCA871305677CSF2RAc.474-63_474-59del (n.474-63_474-59del)
c.*557-63_*557-59del (n.*557-63_*557-59del)
n.511-63_511-59del
c.244+3076_244+3080del (n.244+3076_244+3080del)
c.75-63_75-59del (n.75-63_75-59del)
c.342-63_342-59del (n.342-63_342-59del)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched