Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.95101698_95101708dupCA1865459492AOPEP,FANCCn.410+20918_410+20928dup
n.2493_2503dup
c.*1_*11dup (n.*1_*11dup)
c.2319+20918_2319+20928dup (n.2319+20918_2319+20928dup)
 dbSNP
9g.95101707C>ACA374104217AOPEP,FANCCn.410+20927C>A
n.2492G>T
c.1677G>T (p.Ter559Tyr)
c.996G>T (p.Ter332Tyr)
c.1512G>T (p.Ter504Tyr)
c.1221G>T (p.Ter407Tyr)
c.2319+20927C>A (n.2319+20927C>A)
c.1056G>T (p.Ter352Tyr)
9g.95101707C>GCA374104218AOPEP,FANCCn.410+20927C>G
n.2492G>C
c.1677G>C (p.Ter559Tyr)
c.996G>C (p.Ter332Tyr)
c.1512G>C (p.Ter504Tyr)
c.1221G>C (p.Ter407Tyr)
c.2319+20927C>G (n.2319+20927C>G)
c.1056G>C (p.Ter352Tyr)
9g.95101707C>TCA466092031AOPEP,FANCCn.410+20927C>T
n.2492G>A
c.1677G>A (p.Ter559=)
c.996G>A (p.Ter332=)
c.1512G>A (p.Ter504=)
c.1221G>A (p.Ter407=)
c.2319+20927C>T (n.2319+20927C>T)
c.1056G>A (p.Ter352=)
9g.95101708T>ACA374104219AOPEP,FANCCn.410+20928T>A
n.2491A>T
c.1676A>T (p.Ter559Leu)
c.995A>T (p.Ter332Leu)
c.1511A>T (p.Ter504Leu)
c.1220A>T (p.Ter407Leu)
c.2319+20928T>A (n.2319+20928T>A)
c.1055A>T (p.Ter352Leu)
9g.95101708T>CCA374104220AOPEP,FANCCn.410+20928T>C
n.2491A>G
c.1676A>G (p.Ter559Trp)
c.995A>G (p.Ter332Trp)
c.1511A>G (p.Ter504Trp)
c.1220A>G (p.Ter407Trp)
c.2319+20928T>C (n.2319+20928T>C)
c.1055A>G (p.Ter352Trp)
 gnomAD v4
9g.95101708T>GCA374104221AOPEP,FANCCn.410+20928T>G
n.2491A>C
c.1676A>C (p.Ter559Ser)
c.995A>C (p.Ter332Ser)
c.1511A>C (p.Ter504Ser)
c.1220A>C (p.Ter407Ser)
c.2319+20928T>G (n.2319+20928T>G)
c.1055A>C (p.Ter352Ser)
9g.95101709A=CA1865459500AOPEP,FANCCn.410+20929A=
n.2490T=
c.1675T= (p.Ter559=)
c.994T= (p.Ter332=)
c.1510T= (p.Ter504=)
c.1219T= (p.Ter407=)
c.2319+20929A= (n.2319+20929A=)
c.1054T= (p.Ter352=)
9g.95101709A>CCA374104222AOPEP,FANCCn.410+20929A>C
n.2490T>G
c.1675T>G (p.Ter559Glu)
c.994T>G (p.Ter332Glu)
c.1510T>G (p.Ter504Glu)
c.1219T>G (p.Ter407Glu)
c.2319+20929A>C (n.2319+20929A>C)
c.1054T>G (p.Ter352Glu)
9g.95101709A>GCA5137283AOPEP,FANCCn.410+20929A>G
n.2490T>C
c.1675T>C (p.Ter559Gln)
c.994T>C (p.Ter332Gln)
c.1510T>C (p.Ter504Gln)
c.1219T>C (p.Ter407Gln)
c.2319+20929A>G (n.2319+20929A>G)
c.1054T>C (p.Ter352Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.95101709A>TCA374104223AOPEP,FANCCn.410+20929A>T
n.2490T>A
c.1675T>A (p.Ter559Lys)
c.994T>A (p.Ter332Lys)
c.1510T>A (p.Ter504Lys)
c.1219T>A (p.Ter407Lys)
c.2319+20929A>T (n.2319+20929A>T)
c.1054T>A (p.Ter352Lys)
9g.95101709dupCA913160921AOPEP,FANCCn.410+20929dup
n.2490dup
c.1675dup (p.Ter559LeuextTer?)
c.994dup (p.Ter332LeuextTer?)
c.1510dup (p.Ter504LeuextTer?)
c.1219dup (p.Ter407LeuextTer?)
c.2319+20929dup (n.2319+20929dup)
c.1054dup (p.Ter352LeuextTer?)
9g.95101710G>ACA466092032AOPEP,FANCCn.410+20930G>A
n.2489C>T
c.1674C>T (p.Val558=)
c.1819C>T (n.1819C>T)
c.993C>T (p.Val331=)
c.1509C>T (p.Val503=)
c.1218C>T (p.Val406=)
c.2319+20930G>A (n.2319+20930G>A)
c.1053C>T (p.Val351=)
 gnomAD v4
9g.95101710G>CCA466092033AOPEP,FANCCn.410+20930G>C
n.2489C>G
c.1674C>G (p.Val558=)
c.1819C>G (n.1819C>G)
c.993C>G (p.Val331=)
c.1509C>G (p.Val503=)
c.1218C>G (p.Val406=)
c.2319+20930G>C (n.2319+20930G>C)
c.1053C>G (p.Val351=)
9g.95101710G>TCA466092034AOPEP,FANCCn.410+20930G>T
n.2489C>A
c.1674C>A (p.Val558=)
c.1819C>A (n.1819C>A)
c.993C>A (p.Val331=)
c.1509C>A (p.Val503=)
c.1218C>A (p.Val406=)
c.2319+20930G>T (n.2319+20930G>T)
c.1053C>A (p.Val351=)
 COSMIC
9g.95101712_95101716dupCA658822325AOPEP,FANCCn.410+20932_410+20936dup
n.2485_2489dup
c.1670_1674dup (p.Ter559LysextTer25)
c.989_993dup (p.Ter332LysextTer25)
c.1505_1509dup (p.Ter504LysextTer25)
c.1214_1218dup (p.Ter407LysextTer25)
c.2319+20932_2319+20936dup (n.2319+20932_2319+20936dup)
c.1049_1053dup (p.Ter352LysextTer25)
 ClinVar dbSNP gnomAD v4
9g.95101711A>CCA374104224AOPEP,FANCCn.410+20931A>C
n.2488T>G
c.1673T>G (p.Val558Gly)
c.1818T>G (n.1818T>G)
c.992T>G (p.Val331Gly)
c.1508T>G (p.Val503Gly)
c.1217T>G (p.Val406Gly)
c.2319+20931A>C (n.2319+20931A>C)
c.1052T>G (p.Val351Gly)
9g.95101711A>GCA374104226AOPEP,FANCCn.410+20931A>G
n.2488T>C
c.1673T>C (p.Val558Ala)
c.1818T>C (n.1818T>C)
c.992T>C (p.Val331Ala)
c.1508T>C (p.Val503Ala)
c.1217T>C (p.Val406Ala)
c.2319+20931A>G (n.2319+20931A>G)
c.1052T>C (p.Val351Ala)
9g.95101711A>TCA374104225AOPEP,FANCCn.410+20931A>T
n.2488T>A
c.1673T>A (p.Val558Asp)
c.1818T>A (n.1818T>A)
c.992T>A (p.Val331Asp)
c.1508T>A (p.Val503Asp)
c.1217T>A (p.Val406Asp)
c.2319+20931A>T (n.2319+20931A>T)
c.1052T>A (p.Val351Asp)
9g.95101712C>ACA5137284AOPEP,FANCCn.410+20932C>A
n.2487G>T
c.1672G>T (p.Val558Phe)
c.1817G>T (n.1817G>T)
c.991G>T (p.Val331Phe)
c.1507G>T (p.Val503Phe)
c.1216G>T (p.Val406Phe)
c.2319+20932C>A (n.2319+20932C>A)
c.1051G>T (p.Val351Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.95101712C=CA1865459501AOPEP,FANCCn.410+20932C=
n.2487G=
c.1672G= (p.Val558=)
c.1817G= (n.1817G=)
c.991G= (p.Val331=)
c.1507G= (p.Val503=)
c.1216G= (p.Val406=)
c.2319+20932C= (n.2319+20932C=)
c.1051G= (p.Val351=)
9g.95101712C>GCA374104228AOPEP,FANCCn.410+20932C>G
n.2487G>C
c.1672G>C (p.Val558Leu)
c.1817G>C (n.1817G>C)
c.991G>C (p.Val331Leu)
c.1507G>C (p.Val503Leu)
c.1216G>C (p.Val406Leu)
c.2319+20932C>G (n.2319+20932C>G)
c.1051G>C (p.Val351Leu)
9g.95101712C>TCA374104227AOPEP,FANCCn.410+20932C>T
n.2487G>A
c.1672G>A (p.Val558Ile)
c.1817G>A (n.1817G>A)
c.991G>A (p.Val331Ile)
c.1507G>A (p.Val503Ile)
c.1216G>A (p.Val406Ile)
c.2319+20932C>T (n.2319+20932C>T)
c.1051G>A (p.Val351Ile)
 gnomAD v4
9g.95101713T>ACA374104229AOPEP,FANCCn.410+20933T>A
n.2486A>T
c.1671A>T (p.Gln557His)
c.1816A>T (n.1816A>T)
c.990A>T (p.Gln330His)
c.1506A>T (p.Gln502His)
c.1215A>T (p.Gln405His)
c.2319+20933T>A (n.2319+20933T>A)
c.1050A>T (p.Gln350His)
9g.95101713T>CCA5137285AOPEP,FANCCn.410+20933T>C
n.2486A>G
c.1671A>G (p.Gln557=)
c.1816A>G (n.1816A>G)
c.990A>G (p.Gln330=)
c.1506A>G (p.Gln502=)
c.1215A>G (p.Gln405=)
c.2319+20933T>C (n.2319+20933T>C)
c.1050A>G (p.Gln350=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.95101713T>GCA374104230AOPEP,FANCCn.410+20933T>G
n.2486A>C
c.1671A>C (p.Gln557His)
c.1816A>C (n.1816A>C)
c.990A>C (p.Gln330His)
c.1506A>C (p.Gln502His)
c.1215A>C (p.Gln405His)
c.2319+20933T>G (n.2319+20933T>G)
c.1050A>C (p.Gln350His)
9g.95101713T=CA1865459502AOPEP,FANCCn.410+20933T=
n.2486A=
c.1671A= (p.Gln557=)
c.1816A= (n.1816A=)
c.990A= (p.Gln330=)
c.1506A= (p.Gln502=)
c.1215A= (p.Gln405=)
c.2319+20933T= (n.2319+20933T=)
c.1050A= (p.Gln350=)
9g.95101715_95101719dupCA2579388335AOPEP,FANCCn.410+20935_410+20939dup
n.2482_2486dup
c.1667_1671dup (p.Val558LeufsTer26)
c.1812_1816dup (n.1812_1816dup)
c.986_990dup (p.Val331LeufsTer26)
c.1502_1506dup (p.Val503LeufsTer26)
c.1211_1215dup (p.Val406LeufsTer26)
c.2319+20935_2319+20939dup (n.2319+20935_2319+20939dup)
c.1046_1050dup (p.Val351LeufsTer26)
 gnomAD v4
9g.95101714T>ACA374104231AOPEP,FANCCn.410+20934T>A
n.2485A>T
c.1670A>T (p.Gln557Leu)
c.1815A>T (n.1815A>T)
c.989A>T (p.Gln330Leu)
c.1505A>T (p.Gln502Leu)
c.1214A>T (p.Gln405Leu)
c.2319+20934T>A (n.2319+20934T>A)
c.1049A>T (p.Gln350Leu)
9g.95101714T>CCA374104232AOPEP,FANCCn.410+20934T>C
n.2485A>G
c.1670A>G (p.Gln557Arg)
c.1815A>G (n.1815A>G)
c.989A>G (p.Gln330Arg)
c.1505A>G (p.Gln502Arg)
c.1214A>G (p.Gln405Arg)
c.2319+20934T>C (n.2319+20934T>C)
c.1049A>G (p.Gln350Arg)
 ClinVar dbSNP
9g.95101714T>GCA374104233AOPEP,FANCCn.410+20934T>G
n.2485A>C
c.1670A>C (p.Gln557Pro)
c.1815A>C (n.1815A>C)
c.989A>C (p.Gln330Pro)
c.1505A>C (p.Gln502Pro)
c.1214A>C (p.Gln405Pro)
c.2319+20934T>G (n.2319+20934T>G)
c.1049A>C (p.Gln350Pro)
9g.95101714T=CA1865459503AOPEP,FANCCn.410+20934T=
n.2485A=
c.1670A= (p.Gln557=)
c.1815A= (n.1815A=)
c.989A= (p.Gln330=)
c.1505A= (p.Gln502=)
c.1214A= (p.Gln405=)
c.2319+20934T= (n.2319+20934T=)
c.1049A= (p.Gln350=)
9g.95101715_95101718dupCA2582342007AOPEP,FANCCn.410+20935_410+20938dup
n.2482_2485dup
c.1667_1670dup (p.Gln557HisfsTer?)
c.1812_1815dup (n.1812_1815dup)
c.986_989dup (p.Gln330HisfsTer?)
c.1502_1505dup (p.Gln502HisfsTer?)
c.1211_1214dup (p.Gln405HisfsTer?)
c.2319+20935_2319+20938dup (n.2319+20935_2319+20938dup)
c.1046_1049dup (p.Gln350HisfsTer?)
 ClinVar
9g.95101715G>ACA374104234AOPEP,FANCCn.410+20935G>A
n.2484C>T
c.1669C>T (p.Gln557Ter)
c.1814C>T (n.1814C>T)
c.988C>T (p.Gln330Ter)
c.1504C>T (p.Gln502Ter)
c.1213C>T (p.Gln405Ter)
c.2319+20935G>A (n.2319+20935G>A)
c.1048C>T (p.Gln350Ter)
9g.95101715G>CCA336370AOPEP,FANCCn.410+20935G>C
n.2484C>G
c.1669C>G (p.Gln557Glu)
c.1814C>G (n.1814C>G)
c.988C>G (p.Gln330Glu)
c.1504C>G (p.Gln502Glu)
c.1213C>G (p.Gln405Glu)
c.2319+20935G>C (n.2319+20935G>C)
c.1048C>G (p.Gln350Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.95101715G=CA1865459504AOPEP,FANCCn.410+20935G=
n.2484C=
c.1669C= (p.Gln557=)
c.1814C= (n.1814C=)
c.988C= (p.Gln330=)
c.1504C= (p.Gln502=)
c.1213C= (p.Gln405=)
c.2319+20935G= (n.2319+20935G=)
c.1048C= (p.Gln350=)
9g.95101715G>TCA374104235AOPEP,FANCCn.410+20935G>T
n.2484C>A
c.1669C>A (p.Gln557Lys)
c.1814C>A (n.1814C>A)
c.988C>A (p.Gln330Lys)
c.1504C>A (p.Gln502Lys)
c.1213C>A (p.Gln405Lys)
c.2319+20935G>T (n.2319+20935G>T)
c.1048C>A (p.Gln350Lys)
9g.95101716A>CCA466092036AOPEP,FANCCn.410+20936A>C
n.2483T>G
c.1668T>G (p.Thr556=)
c.1813T>G (n.1813T>G)
c.987T>G (p.Thr329=)
c.1503T>G (p.Thr501=)
c.1212T>G (p.Thr404=)
c.2319+20936A>C (n.2319+20936A>C)
c.1047T>G (p.Thr349=)
9g.95101716A>GCA466092037AOPEP,FANCCn.410+20936A>G
n.2483T>C
c.1668T>C (p.Thr556=)
c.1813T>C (n.1813T>C)
c.987T>C (p.Thr329=)
c.1503T>C (p.Thr501=)
c.1212T>C (p.Thr404=)
c.2319+20936A>G (n.2319+20936A>G)
c.1047T>C (p.Thr349=)
 ClinVar
9g.95101716A>TCA466092038AOPEP,FANCCn.410+20936A>T
n.2483T>A
c.1668T>A (p.Thr556=)
c.1813T>A (n.1813T>A)
c.987T>A (p.Thr329=)
c.1503T>A (p.Thr501=)
c.1212T>A (p.Thr404=)
c.2319+20936A>T (n.2319+20936A>T)
c.1047T>A (p.Thr349=)
9g.95101717G>ACA374104236AOPEP,FANCCn.410+20937G>A
n.2482C>T
c.1667C>T (p.Thr556Ile)
c.1812C>T (n.1812C>T)
c.986C>T (p.Thr329Ile)
c.1502C>T (p.Thr501Ile)
c.1211C>T (p.Thr404Ile)
c.2319+20937G>A (n.2319+20937G>A)
c.1046C>T (p.Thr349Ile)
9g.95101717G>CCA374104237AOPEP,FANCCn.410+20937G>C
n.2482C>G
c.1667C>G (p.Thr556Ser)
c.1812C>G (n.1812C>G)
c.986C>G (p.Thr329Ser)
c.1502C>G (p.Thr501Ser)
c.1211C>G (p.Thr404Ser)
c.2319+20937G>C (n.2319+20937G>C)
c.1046C>G (p.Thr349Ser)
9g.95101717G>TCA374104238AOPEP,FANCCn.410+20937G>T
n.2482C>A
c.1667C>A (p.Thr556Asn)
c.1812C>A (n.1812C>A)
c.986C>A (p.Thr329Asn)
c.1502C>A (p.Thr501Asn)
c.1211C>A (p.Thr404Asn)
c.2319+20937G>T (n.2319+20937G>T)
c.1046C>A (p.Thr349Asn)
9g.95101718T>ACA374104241AOPEP,FANCCn.410+20938T>A
n.2481A>T
c.1666A>T (p.Thr556Ser)
c.1811A>T (n.1811A>T)
c.985A>T (p.Thr329Ser)
c.1501A>T (p.Thr501Ser)
c.1210A>T (p.Thr404Ser)
c.2319+20938T>A (n.2319+20938T>A)
c.1045A>T (p.Thr349Ser)
9g.95101718T>CCA374104239AOPEP,FANCCn.410+20938T>C
n.2481A>G
c.1666A>G (p.Thr556Ala)
c.1811A>G (n.1811A>G)
c.985A>G (p.Thr329Ala)
c.1501A>G (p.Thr501Ala)
c.1210A>G (p.Thr404Ala)
c.2319+20938T>C (n.2319+20938T>C)
c.1045A>G (p.Thr349Ala)
9g.95101718T>GCA374104240AOPEP,FANCCn.410+20938T>G
n.2481A>C
c.1666A>C (p.Thr556Pro)
c.1811A>C (n.1811A>C)
c.985A>C (p.Thr329Pro)
c.1501A>C (p.Thr501Pro)
c.1210A>C (p.Thr404Pro)
c.2319+20938T>G (n.2319+20938T>G)
c.1045A>C (p.Thr349Pro)
9g.95101719T>ACA466092039AOPEP,FANCCn.410+20939T>A
n.2480A>T
c.1665A>T (p.Arg555=)
c.1810A>T (n.1810A>T)
c.984A>T (p.Arg328=)
c.1500A>T (p.Arg500=)
c.1209A>T (p.Arg403=)
c.2319+20939T>A (n.2319+20939T>A)
c.1044A>T (p.Arg348=)
9g.95101719T>CCA466092040AOPEP,FANCCn.410+20939T>C
n.2480A>G
c.1665A>G (p.Arg555=)
c.1810A>G (n.1810A>G)
c.984A>G (p.Arg328=)
c.1500A>G (p.Arg500=)
c.1209A>G (p.Arg403=)
c.2319+20939T>C (n.2319+20939T>C)
c.1044A>G (p.Arg348=)
9g.95101719T>GCA466092041AOPEP,FANCCn.410+20939T>G
n.2480A>C
c.1665A>C (p.Arg555=)
c.1810A>C (n.1810A>C)
c.984A>C (p.Arg328=)
c.1500A>C (p.Arg500=)
c.1209A>C (p.Arg403=)
c.2319+20939T>G (n.2319+20939T>G)
c.1044A>C (p.Arg348=)
9g.95101720C>ACA374104242AOPEP,FANCCn.410+20940C>A
n.2479G>T
c.1664G>T (p.Arg555Leu)
c.1809G>T (n.1809G>T)
c.983G>T (p.Arg328Leu)
c.1499G>T (p.Arg500Leu)
c.1208G>T (p.Arg403Leu)
c.2319+20940C>A (n.2319+20940C>A)
c.1043G>T (p.Arg348Leu)

Number of alleles fetched