Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.95107166T>ACA374105952AOPEP,FANCCn.410+26386T>A
n.2248A>T
c.1433A>T (p.Asp478Val)
c.1578A>T (n.1578A>T)
n.760A>T
c.752A>T (p.Asp251Val)
c.1268A>T (p.Asp423Val)
c.977A>T (p.Asp326Val)
c.2319+26386T>A (n.2319+26386T>A)
c.812A>T (p.Asp271Val)
n.584T>A
9g.95107166T>CCA374105954AOPEP,FANCCn.410+26386T>C
n.2248A>G
c.1433A>G (p.Asp478Gly)
c.1578A>G (n.1578A>G)
n.760A>G
c.752A>G (p.Asp251Gly)
c.1268A>G (p.Asp423Gly)
c.977A>G (p.Asp326Gly)
c.2319+26386T>C (n.2319+26386T>C)
c.812A>G (p.Asp271Gly)
n.584T>C
9g.95107166T>GCA374105957AOPEP,FANCCn.410+26386T>G
n.2248A>C
c.1433A>C (p.Asp478Ala)
c.1578A>C (n.1578A>C)
n.760A>C
c.752A>C (p.Asp251Ala)
c.1268A>C (p.Asp423Ala)
c.977A>C (p.Asp326Ala)
c.2319+26386T>G (n.2319+26386T>G)
c.812A>C (p.Asp271Ala)
n.584T>G
9g.95107167C>ACA374105959AOPEP,FANCCn.410+26387C>A
n.2247G>T
c.1432G>T (p.Asp478Tyr)
c.1577G>T (n.1577G>T)
n.759G>T
c.751G>T (p.Asp251Tyr)
c.1267G>T (p.Asp423Tyr)
c.976G>T (p.Asp326Tyr)
c.2319+26387C>A (n.2319+26387C>A)
c.811G>T (p.Asp271Tyr)
n.585C>A
 ClinVar
9g.95107167C=CA1865462162AOPEP,FANCCn.410+26387C=
n.2247G=
c.1432G= (p.Asp478=)
c.1577G= (n.1577G=)
n.759G=
c.751G= (p.Asp251=)
c.1267G= (p.Asp423=)
c.976G= (p.Asp326=)
c.2319+26387C= (n.2319+26387C=)
c.811G= (p.Asp271=)
n.585C=
9g.95107167C>GCA374105961AOPEP,FANCCn.410+26387C>G
n.2247G>C
c.1432G>C (p.Asp478His)
c.1577G>C (n.1577G>C)
n.759G>C
c.751G>C (p.Asp251His)
c.1267G>C (p.Asp423His)
c.976G>C (p.Asp326His)
c.2319+26387C>G (n.2319+26387C>G)
c.811G>C (p.Asp271His)
n.585C>G
 gnomAD v4
9g.95107167C>TCA374105963AOPEP,FANCCn.410+26387C>T
n.2247G>A
c.1432G>A (p.Asp478Asn)
c.1577G>A (n.1577G>A)
n.759G>A
c.751G>A (p.Asp251Asn)
c.1267G>A (p.Asp423Asn)
c.976G>A (p.Asp326Asn)
c.2319+26387C>T (n.2319+26387C>T)
c.811G>A (p.Asp271Asn)
n.585C>T
 dbSNP gnomAD v4
9g.95107167_95107169delinsCTGCA1865462161AOPEP,FANCCn.410+26387_410+26389delinsCTG
n.2245_2247delinsCAG
c.1430_1432delinsCAG (p.Thr477=)
c.1575_1577delinsCAG (n.1575_1577delinsCAG)
n.757_759delinsCAG
c.749_751delinsCAG (p.Thr250=)
c.1265_1267delinsCAG (p.Thr422=)
c.974_976delinsCAG (p.Thr325=)
c.2319+26387_2319+26389delinsCTG (n.2319+26387_2319+26389delinsCTG)
c.809_811delinsCAG (p.Thr270=)
n.585_587delinsCTG
9g.95107168T>ACA466092323AOPEP,FANCCn.410+26388T>A
n.2246A>T
c.1431A>T (p.Thr477=)
c.1576A>T (n.1576A>T)
n.758A>T
c.750A>T (p.Thr250=)
c.1266A>T (p.Thr422=)
c.975A>T (p.Thr325=)
c.2319+26388T>A (n.2319+26388T>A)
c.810A>T (p.Thr270=)
n.586T>A
9g.95107168T>CCA466092325AOPEP,FANCCn.410+26388T>C
n.2246A>G
c.1431A>G (p.Thr477=)
c.1576A>G (n.1576A>G)
n.758A>G
c.750A>G (p.Thr250=)
c.1266A>G (p.Thr422=)
c.975A>G (p.Thr325=)
c.2319+26388T>C (n.2319+26388T>C)
c.810A>G (p.Thr270=)
n.586T>C
 dbSNP
9g.95107168T>GCA466092326AOPEP,FANCCn.410+26388T>G
n.2246A>C
c.1431A>C (p.Thr477=)
c.1576A>C (n.1576A>C)
n.758A>C
c.750A>C (p.Thr250=)
c.1266A>C (p.Thr422=)
c.975A>C (p.Thr325=)
c.2319+26388T>G (n.2319+26388T>G)
c.810A>C (p.Thr270=)
n.586T>G
9g.95107171_95107172delCA915947016AOPEP,FANCCn.410+26391_410+26392del
n.2245_2246del
c.1430_1431del (p.Thr477ArgfsTer?)
c.1575_1576del (n.1575_1576del)
n.757_758del
c.749_750del (p.Thr250ArgfsTer?)
c.1265_1266del (p.Thr422ArgfsTer?)
c.974_975del (p.Thr325ArgfsTer?)
c.2319+26391_2319+26392del (n.2319+26391_2319+26392del)
c.809_810del (p.Thr270ArgfsTer?)
n.589_590del
 ClinVar dbSNP
9g.95107169G>ACA374105966AOPEP,FANCCn.410+26389G>A
n.2245C>T
c.1430C>T (p.Thr477Ile)
c.1575C>T (n.1575C>T)
n.757C>T
c.749C>T (p.Thr250Ile)
c.1265C>T (p.Thr422Ile)
c.974C>T (p.Thr325Ile)
c.2319+26389G>A (n.2319+26389G>A)
c.809C>T (p.Thr270Ile)
n.587G>A
 dbSNP gnomAD v2 gnomAD v4
9g.95107169G>CCA374105968AOPEP,FANCCn.410+26389G>C
n.2245C>G
c.1430C>G (p.Thr477Arg)
c.1575C>G (n.1575C>G)
n.757C>G
c.749C>G (p.Thr250Arg)
c.1265C>G (p.Thr422Arg)
c.974C>G (p.Thr325Arg)
c.2319+26389G>C (n.2319+26389G>C)
c.809C>G (p.Thr270Arg)
n.587G>C
9g.95107169G=CA1865462163AOPEP,FANCCn.410+26389G=
n.2245C=
c.1430C= (p.Thr477=)
c.1575C= (n.1575C=)
n.757C=
c.749C= (p.Thr250=)
c.1265C= (p.Thr422=)
c.974C= (p.Thr325=)
c.2319+26389G= (n.2319+26389G=)
c.809C= (p.Thr270=)
n.587G=
9g.95107169G>TCA374105970AOPEP,FANCCn.410+26389G>T
n.2245C>A
c.1430C>A (p.Thr477Lys)
c.1575C>A (n.1575C>A)
n.757C>A
c.749C>A (p.Thr250Lys)
c.1265C>A (p.Thr422Lys)
c.974C>A (p.Thr325Lys)
c.2319+26389G>T (n.2319+26389G>T)
c.809C>A (p.Thr270Lys)
n.587G>T
9g.95107170T>ACA374105973AOPEP,FANCCn.410+26390T>A
n.2244A>T
c.1429A>T (p.Thr477Ser)
c.1574A>T (n.1574A>T)
n.756A>T
c.748A>T (p.Thr250Ser)
c.1264A>T (p.Thr422Ser)
c.973A>T (p.Thr325Ser)
c.2319+26390T>A (n.2319+26390T>A)
c.808A>T (p.Thr270Ser)
n.588T>A
 gnomAD v4
9g.95107170T>CCA374105975AOPEP,FANCCn.410+26390T>C
n.2244A>G
c.1429A>G (p.Thr477Ala)
c.1574A>G (n.1574A>G)
n.756A>G
c.748A>G (p.Thr250Ala)
c.1264A>G (p.Thr422Ala)
c.973A>G (p.Thr325Ala)
c.2319+26390T>C (n.2319+26390T>C)
c.808A>G (p.Thr270Ala)
n.588T>C
9g.95107170T>GCA374105978AOPEP,FANCCn.410+26390T>G
n.2244A>C
c.1429A>C (p.Thr477Pro)
c.1574A>C (n.1574A>C)
n.756A>C
c.748A>C (p.Thr250Pro)
c.1264A>C (p.Thr422Pro)
c.973A>C (p.Thr325Pro)
c.2319+26390T>G (n.2319+26390T>G)
c.808A>C (p.Thr270Pro)
n.588T>G
9g.95107170dupCA2695211018AOPEP,FANCCn.410+26390dup
n.2244dup
c.1429dup (p.Thr477AsnfsTer?)
c.1574dup (n.1574dup)
n.756dup
c.748dup (p.Thr250AsnfsTer?)
c.1264dup (p.Thr422AsnfsTer?)
c.973dup (p.Thr325AsnfsTer?)
c.2319+26390dup (n.2319+26390dup)
c.808dup (p.Thr270AsnfsTer?)
n.588dup
9g.95107171G>ACA466092328AOPEP,FANCCn.410+26391G>A
n.2243C>T
c.1428C>T (p.Asp476=)
c.1573C>T (n.1573C>T)
n.755C>T
c.747C>T (p.Asp249=)
c.1263C>T (p.Asp421=)
c.972C>T (p.Asp324=)
c.2319+26391G>A (n.2319+26391G>A)
c.807C>T (p.Asp269=)
n.589G>A
 gnomAD v4
9g.95107171G>CCA374105982AOPEP,FANCCn.410+26391G>C
n.2243C>G
c.1428C>G (p.Asp476Glu)
c.1573C>G (n.1573C>G)
n.755C>G
c.747C>G (p.Asp249Glu)
c.1263C>G (p.Asp421Glu)
c.972C>G (p.Asp324Glu)
c.2319+26391G>C (n.2319+26391G>C)
c.807C>G (p.Asp269Glu)
n.589G>C
9g.95107171G>TCA374105980AOPEP,FANCCn.410+26391G>T
n.2243C>A
c.1428C>A (p.Asp476Glu)
c.1573C>A (n.1573C>A)
n.755C>A
c.747C>A (p.Asp249Glu)
c.1263C>A (p.Asp421Glu)
c.972C>A (p.Asp324Glu)
c.2319+26391G>T (n.2319+26391G>T)
c.807C>A (p.Asp269Glu)
n.589G>T
 ClinVar
9g.95107172T>ACA374105984AOPEP,FANCCn.410+26392T>A
n.2242A>T
c.1427A>T (p.Asp476Val)
c.1572A>T (n.1572A>T)
n.754A>T
c.746A>T (p.Asp249Val)
c.1262A>T (p.Asp421Val)
c.971A>T (p.Asp324Val)
c.2319+26392T>A (n.2319+26392T>A)
c.806A>T (p.Asp269Val)
n.590T>A
9g.95107172T>CCA374105986AOPEP,FANCCn.410+26392T>C
n.2242A>G
c.1427A>G (p.Asp476Gly)
c.1572A>G (n.1572A>G)
n.754A>G
c.746A>G (p.Asp249Gly)
c.1262A>G (p.Asp421Gly)
c.971A>G (p.Asp324Gly)
c.2319+26392T>C (n.2319+26392T>C)
c.806A>G (p.Asp269Gly)
n.590T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.95107172T>GCA374105989AOPEP,FANCCn.410+26392T>G
n.2242A>C
c.1427A>C (p.Asp476Ala)
c.1572A>C (n.1572A>C)
n.754A>C
c.746A>C (p.Asp249Ala)
c.1262A>C (p.Asp421Ala)
c.971A>C (p.Asp324Ala)
c.2319+26392T>G (n.2319+26392T>G)
c.806A>C (p.Asp269Ala)
n.590T>G
9g.95107172T=CA1865462164AOPEP,FANCCn.410+26392T=
n.2242A=
c.1427A= (p.Asp476=)
c.1572A= (n.1572A=)
n.754A=
c.746A= (p.Asp249=)
c.1262A= (p.Asp421=)
c.971A= (p.Asp324=)
c.2319+26392T= (n.2319+26392T=)
c.806A= (p.Asp269=)
n.590T=
9g.95107173C>ACA374105992AOPEP,FANCCn.410+26393C>A
n.2241G>T
c.1426G>T (p.Asp476Tyr)
c.1571G>T (n.1571G>T)
n.753G>T
c.745G>T (p.Asp249Tyr)
c.1261G>T (p.Asp421Tyr)
c.970G>T (p.Asp324Tyr)
c.2319+26393C>A (n.2319+26393C>A)
c.805G>T (p.Asp269Tyr)
n.591C>A
 dbSNP
9g.95107173C>GCA374105994AOPEP,FANCCn.410+26393C>G
n.2241G>C
c.1426G>C (p.Asp476His)
c.1571G>C (n.1571G>C)
n.753G>C
c.745G>C (p.Asp249His)
c.1261G>C (p.Asp421His)
c.970G>C (p.Asp324His)
c.2319+26393C>G (n.2319+26393C>G)
c.805G>C (p.Asp269His)
n.591C>G
9g.95107173C>TCA374105996AOPEP,FANCCn.410+26393C>T
n.2241G>A
c.1426G>A (p.Asp476Asn)
c.1571G>A (n.1571G>A)
n.753G>A
c.745G>A (p.Asp249Asn)
c.1261G>A (p.Asp421Asn)
c.970G>A (p.Asp324Asn)
c.2319+26393C>T (n.2319+26393C>T)
c.805G>A (p.Asp269Asn)
n.591C>T
 gnomAD v4
9g.95107177_95107183delCA2720431867AOPEP,FANCCn.410+26397_410+26403del
n.2235_2241del
c.1420_1426del (p.Gly474ThrfsTer11)
c.1565_1571del (n.1565_1571del)
n.747_753del
c.739_745del (p.Gly247ThrfsTer11)
c.1255_1261del (p.Gly419ThrfsTer11)
c.964_970del (p.Gly322ThrfsTer11)
c.2319+26397_2319+26403del (n.2319+26397_2319+26403del)
c.799_805del (p.Gly267ThrfsTer11)
n.595_601del
 dbSNP
9g.95107174T>ACA466092330AOPEP,FANCCn.410+26394T>A
n.2240A>T
c.1425A>T (p.Thr475=)
c.1570A>T (n.1570A>T)
n.752A>T
c.744A>T (p.Thr248=)
c.1260A>T (p.Thr420=)
c.969A>T (p.Thr323=)
c.2319+26394T>A (n.2319+26394T>A)
c.804A>T (p.Thr268=)
n.592T>A
9g.95107174T>CCA5137335AOPEP,FANCCn.410+26394T>C
n.2240A>G
c.1425A>G (p.Thr475=)
c.1570A>G (n.1570A>G)
n.752A>G
c.744A>G (p.Thr248=)
c.1260A>G (p.Thr420=)
c.969A>G (p.Thr323=)
c.2319+26394T>C (n.2319+26394T>C)
c.804A>G (p.Thr268=)
n.592T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95107174T>GCA466092331AOPEP,FANCCn.410+26394T>G
n.2240A>C
c.1425A>C (p.Thr475=)
c.1570A>C (n.1570A>C)
n.752A>C
c.744A>C (p.Thr248=)
c.1260A>C (p.Thr420=)
c.969A>C (p.Thr323=)
c.2319+26394T>G (n.2319+26394T>G)
c.804A>C (p.Thr268=)
n.592T>G
9g.95107174T=CA1865462165AOPEP,FANCCn.410+26394T=
n.2240A=
c.1425A= (p.Thr475=)
c.1570A= (n.1570A=)
n.752A=
c.744A= (p.Thr248=)
c.1260A= (p.Thr420=)
c.969A= (p.Thr323=)
c.2319+26394T= (n.2319+26394T=)
c.804A= (p.Thr268=)
n.592T=
9g.95107175G>ACA374106000AOPEP,FANCCn.410+26395G>A
n.2239C>T
c.1424C>T (p.Thr475Ile)
c.1569C>T (n.1569C>T)
n.751C>T
c.743C>T (p.Thr248Ile)
c.1259C>T (p.Thr420Ile)
c.968C>T (p.Thr323Ile)
c.2319+26395G>A (n.2319+26395G>A)
c.803C>T (p.Thr268Ile)
n.593G>A
 dbSNP
9g.95107175G>CCA374106008AOPEP,FANCCn.410+26395G>C
n.2239C>G
c.1424C>G (p.Thr475Arg)
c.1569C>G (n.1569C>G)
n.751C>G
c.743C>G (p.Thr248Arg)
c.1259C>G (p.Thr420Arg)
c.968C>G (p.Thr323Arg)
c.2319+26395G>C (n.2319+26395G>C)
c.803C>G (p.Thr268Arg)
n.593G>C
9g.95107175G=CA1865462166AOPEP,FANCCn.410+26395G=
n.2239C=
c.1424C= (p.Thr475=)
c.1569C= (n.1569C=)
n.751C=
c.743C= (p.Thr248=)
c.1259C= (p.Thr420=)
c.968C= (p.Thr323=)
c.2319+26395G= (n.2319+26395G=)
c.803C= (p.Thr268=)
n.593G=
9g.95107175G>TCA374106009AOPEP,FANCCn.410+26395G>T
n.2239C>A
c.1424C>A (p.Thr475Lys)
c.1569C>A (n.1569C>A)
n.751C>A
c.743C>A (p.Thr248Lys)
c.1259C>A (p.Thr420Lys)
c.968C>A (p.Thr323Lys)
c.2319+26395G>T (n.2319+26395G>T)
c.803C>A (p.Thr268Lys)
n.593G>T
 ClinVar dbSNP gnomAD v4
9g.95107176T>ACA374106011AOPEP,FANCCn.410+26396T>A
n.2238A>T
c.1423A>T (p.Thr475Ser)
c.1568A>T (n.1568A>T)
n.750A>T
c.742A>T (p.Thr248Ser)
c.1258A>T (p.Thr420Ser)
c.967A>T (p.Thr323Ser)
c.2319+26396T>A (n.2319+26396T>A)
c.802A>T (p.Thr268Ser)
n.594T>A
9g.95107176T>CCA374106013AOPEP,FANCCn.410+26396T>C
n.2238A>G
c.1423A>G (p.Thr475Ala)
c.1568A>G (n.1568A>G)
n.750A>G
c.742A>G (p.Thr248Ala)
c.1258A>G (p.Thr420Ala)
c.967A>G (p.Thr323Ala)
c.2319+26396T>C (n.2319+26396T>C)
c.802A>G (p.Thr268Ala)
n.594T>C
 ClinVar
9g.95107176T>GCA374106014AOPEP,FANCCn.410+26396T>G
n.2238A>C
c.1423A>C (p.Thr475Pro)
c.1568A>C (n.1568A>C)
n.750A>C
c.742A>C (p.Thr248Pro)
c.1258A>C (p.Thr420Pro)
c.967A>C (p.Thr323Pro)
c.2319+26396T>G (n.2319+26396T>G)
c.802A>C (p.Thr268Pro)
n.594T>G
 ClinVar
9g.95107177G>ACA466092333AOPEP,FANCCn.410+26397G>A
n.2237C>T
c.1422C>T (p.Gly474=)
c.1567C>T (n.1567C>T)
n.749C>T
c.741C>T (p.Gly247=)
c.1257C>T (p.Gly419=)
c.966C>T (p.Gly322=)
c.2319+26397G>A (n.2319+26397G>A)
c.801C>T (p.Gly267=)
n.595G>A
 ClinVar dbSNP
9g.95107177G>CCA466092334AOPEP,FANCCn.410+26397G>C
n.2237C>G
c.1422C>G (p.Gly474=)
c.1567C>G (n.1567C>G)
n.749C>G
c.741C>G (p.Gly247=)
c.1257C>G (p.Gly419=)
c.966C>G (p.Gly322=)
c.2319+26397G>C (n.2319+26397G>C)
c.801C>G (p.Gly267=)
n.595G>C
 dbSNP
9g.95107177G>TCA466092332AOPEP,FANCCn.410+26397G>T
n.2237C>A
c.1422C>A (p.Gly474=)
c.1567C>A (n.1567C>A)
n.749C>A
c.741C>A (p.Gly247=)
c.1257C>A (p.Gly419=)
c.966C>A (p.Gly322=)
c.2319+26397G>T (n.2319+26397G>T)
c.801C>A (p.Gly267=)
n.595G>T
9g.95107178C>ACA374106019AOPEP,FANCCn.410+26398C>A
n.2236G>T
c.1421G>T (p.Gly474Val)
c.1566G>T (n.1566G>T)
n.748G>T
c.740G>T (p.Gly247Val)
c.1256G>T (p.Gly419Val)
c.965G>T (p.Gly322Val)
c.2319+26398C>A (n.2319+26398C>A)
c.800G>T (p.Gly267Val)
n.596C>A
 dbSNP
9g.95107178C>GCA374106018AOPEP,FANCCn.410+26398C>G
n.2236G>C
c.1421G>C (p.Gly474Ala)
c.1566G>C (n.1566G>C)
n.748G>C
c.740G>C (p.Gly247Ala)
c.1256G>C (p.Gly419Ala)
c.965G>C (p.Gly322Ala)
c.2319+26398C>G (n.2319+26398C>G)
c.800G>C (p.Gly267Ala)
n.596C>G
9g.95107178C>TCA374106016AOPEP,FANCCn.410+26398C>T
n.2236G>A
c.1421G>A (p.Gly474Asp)
c.1566G>A (n.1566G>A)
n.748G>A
c.740G>A (p.Gly247Asp)
c.1256G>A (p.Gly419Asp)
c.965G>A (p.Gly322Asp)
c.2319+26398C>T (n.2319+26398C>T)
c.800G>A (p.Gly267Asp)
n.596C>T
 dbSNP gnomAD v4 COSMIC
9g.95107179C>ACA374106023AOPEP,FANCCn.410+26399C>A
n.2235G>T
c.1420G>T (p.Gly474Cys)
c.1565G>T (n.1565G>T)
n.747G>T
c.739G>T (p.Gly247Cys)
c.1255G>T (p.Gly419Cys)
c.964G>T (p.Gly322Cys)
c.2319+26399C>A (n.2319+26399C>A)
c.799G>T (p.Gly267Cys)
n.597C>A
 COSMIC
9g.95107179C>GCA374106026AOPEP,FANCCn.410+26399C>G
n.2235G>C
c.1420G>C (p.Gly474Arg)
c.1565G>C (n.1565G>C)
n.747G>C
c.739G>C (p.Gly247Arg)
c.1255G>C (p.Gly419Arg)
c.964G>C (p.Gly322Arg)
c.2319+26399C>G (n.2319+26399C>G)
c.799G>C (p.Gly267Arg)
n.597C>G

Number of alleles fetched