Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.95101675C=CA1865459476AOPEP,FANCCn.410+20895C=
n.2524G=
c.*32G= (n.*32G=)
c.2319+20895C= (n.2319+20895C=)
9g.95101675C>TCA1126967093AOPEP,FANCCn.410+20895C>T
n.2524G>A
c.*32G>A (n.*32G>A)
c.2319+20895C>T (n.2319+20895C>T)
 dbSNP gnomAD v3 gnomAD v4
9g.95101676dupCA1865459477AOPEP,FANCCn.410+20896dup
n.2523dup
c.*31dup (n.*31dup)
c.2319+20896dup (n.2319+20896dup)
 dbSNP
9g.95101677C=CA1865459478AOPEP,FANCCn.410+20897C=
n.2522G=
c.*30G= (n.*30G=)
c.2319+20897C= (n.2319+20897C=)
9g.95101677C>TCA5137271AOPEP,FANCCn.410+20897C>T
n.2522G>A
c.*30G>A (n.*30G>A)
c.2319+20897C>T (n.2319+20897C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101678G>ACA5137272AOPEP,FANCCn.410+20898G>A
n.2521C>T
c.*29C>T (n.*29C>T)
c.2319+20898G>A (n.2319+20898G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101678G=CA1865459479AOPEP,FANCCn.410+20898G=
n.2521C=
c.*29C= (n.*29C=)
c.2319+20898G= (n.2319+20898G=)
9g.95101679C>TCA2720436529AOPEP,FANCCn.410+20899C>T
n.2520G>A
c.*28G>A (n.*28G>A)
c.2319+20899C>T (n.2319+20899C>T)
 dbSNP
9g.95101680C=CA1865459480AOPEP,FANCCn.410+20900C=
n.2519G=
c.*27G= (n.*27G=)
c.2319+20900C= (n.2319+20900C=)
9g.95101680C>TCA5137273AOPEP,FANCCn.410+20900C>T
n.2519G>A
c.*27G>A (n.*27G>A)
c.2319+20900C>T (n.2319+20900C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101681G>ACA5137274AOPEP,FANCCn.410+20901G>A
n.2518C>T
c.*26C>T (n.*26C>T)
c.2319+20901G>A (n.2319+20901G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101681G>CCA196536597AOPEP,FANCCn.410+20901G>C
n.2518C>G
c.*26C>G (n.*26C>G)
c.2319+20901G>C (n.2319+20901G>C)
 dbSNP
9g.95101681G=CA1865459482AOPEP,FANCCn.410+20901G=
n.2518C=
c.*26C= (n.*26C=)
c.2319+20901G= (n.2319+20901G=)
9g.95101681G>TCA2579388332AOPEP,FANCCn.410+20901G>T
n.2518C>A
c.*26C>A (n.*26C>A)
c.2319+20901G>T (n.2319+20901G>T)
9g.95101683dupCA1865459481AOPEP,FANCCn.410+20903dup
n.2518dup
c.*26dup (n.*26dup)
c.2319+20903dup (n.2319+20903dup)
 dbSNP
9g.95101682G>ACA2785167008AOPEP,FANCCn.410+20902G>A
n.2517C>T
c.*25C>T (n.*25C>T)
c.2319+20902G>A (n.2319+20902G>A)
9g.95101683G>ACA5137275AOPEP,FANCCn.410+20903G>A
n.2516C>T
c.*24C>T (n.*24C>T)
c.2319+20903G>A (n.2319+20903G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101683G=CA1865459483AOPEP,FANCCn.410+20903G=
n.2516C=
c.*24C= (n.*24C=)
c.2319+20903G= (n.2319+20903G=)
9g.95101683G>TCA2690785712AOPEP,FANCCn.410+20903G>T
n.2516C>A
c.*24C>A (n.*24C>A)
c.2319+20903G>T (n.2319+20903G>T)
 gnomAD v4
9g.95101684C=CA1865459485AOPEP,FANCCn.410+20904C=
n.2515G=
c.*23G= (n.*23G=)
c.2319+20904C= (n.2319+20904C=)
9g.95101684C>TCA1865459484AOPEP,FANCCn.410+20904C>T
n.2515G>A
c.*23G>A (n.*23G>A)
c.2319+20904C>T (n.2319+20904C>T)
 dbSNP gnomAD v4
9g.95101687C=CA1865459486AOPEP,FANCCn.410+20907C=
n.2512G=
c.*20G= (n.*20G=)
c.2319+20907C= (n.2319+20907C=)
9g.95101687C>TCA196536605AOPEP,FANCCn.410+20907C>T
n.2512G>A
c.*20G>A (n.*20G>A)
c.2319+20907C>T (n.2319+20907C>T)
 dbSNP gnomAD v4
9g.95101688C>ACA2690785713AOPEP,FANCCn.410+20908C>A
n.2511G>T
c.*19G>T (n.*19G>T)
c.2319+20908C>A (n.2319+20908C>A)
 gnomAD v4
9g.95101688C>GCA2690785714AOPEP,FANCCn.410+20908C>G
n.2511G>C
c.*19G>C (n.*19G>C)
c.2319+20908C>G (n.2319+20908C>G)
 gnomAD v4
9g.95101690C>ACA5137276AOPEP,FANCCn.410+20910C>A
n.2509G>T
c.*17G>T (n.*17G>T)
c.2319+20910C>A (n.2319+20910C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.95101690C=CA1865459487AOPEP,FANCCn.410+20910C=
n.2509G=
c.*17G= (n.*17G=)
c.2319+20910C= (n.2319+20910C=)
9g.95101691A=CA1865459488AOPEP,FANCCn.410+20911A=
n.2508T=
c.*16T= (n.*16T=)
c.2319+20911A= (n.2319+20911A=)
9g.95101691A>GCA5137277AOPEP,FANCCn.410+20911A>G
n.2508T>C
c.*16T>C (n.*16T>C)
c.2319+20911A>G (n.2319+20911A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101692C=CA1865459489AOPEP,FANCCn.410+20912C=
n.2507G=
c.*15G= (n.*15G=)
c.2319+20912C= (n.2319+20912C=)
9g.95101692C>GCA2579388333AOPEP,FANCCn.410+20912C>G
n.2507G>C
c.*15G>C (n.*15G>C)
c.2319+20912C>G (n.2319+20912C>G)
9g.95101692C>TCA5137278AOPEP,FANCCn.410+20912C>T
n.2507G>A
c.*15G>A (n.*15G>A)
c.2319+20912C>T (n.2319+20912C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101693G>ACA5137279AOPEP,FANCCn.410+20913G>A
n.2506C>T
c.*14C>T (n.*14C>T)
c.2319+20913G>A (n.2319+20913G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101693G=CA1865459490AOPEP,FANCCn.410+20913G=
n.2506C=
c.*14C= (n.*14C=)
c.2319+20913G= (n.2319+20913G=)
9g.95101693_95101694insATTTCCTTCCCGATCGACAAGTACGAGAAGTACGCGCCCGTCAACATCGACTGCATTACGTTCCGCGAGTTCAACGCGGATTCCGTCAAGCTCCA2785167011AOPEP,FANCCn.410+20913_410+20914insATTTCCTTCCCGATCGACAAGTACGAGAAGTACGCGCCCGTCAACATCGACTGCATTACGTTCCGCGAGTTCAACGCGGATTCCGTCAAGCTC
n.2505_2506insGAGCTTGACGGAATCCGCGTTGAACTCGCGGAACGTAATGCAGTCGATGTTGACGGGCGCGTACTTCTCGTACTTGTCGATCGGGAAGGAAAT
c.*13_*14insGAGCTTGACGGAATCCGCGTTGAACTCGCGGAACGTAATGCAGTCGATGTTGACGGGCGCGTACTTCTCGTACTTGTCGATCGGGAAGGAAAT (n.*13_*14insGAGCTTGACGGAATCCGCGTTGAACTCGCGGAACGTAATGCAGTCGATGTTGACGGGCGCGTACTTCTCGTACTTGTCGATCGGGAAGGAAAT)
c.2319+20913_2319+20914insATTTCCTTCCCGATCGACAAGTACGAGAAGTACGCGCCCGTCAACATCGACTGCATTACGTTCCGCGAGTTCAACGCGGATTCCGTCAAGCTC (n.2319+20913_2319+20914insATTTCCTTCCCGATCGACAAGTACGAGAAGTACGCGCCCGTCAACATCGACTGCATTACGTTCCGCGAGTTCAACGCGGATTCCGTCAAGCTC)
9g.95101694G>ACA2579388334AOPEP,FANCCn.410+20914G>A
n.2505C>T
c.*13C>T (n.*13C>T)
c.2319+20914G>A (n.2319+20914G>A)
 dbSNP gnomAD v4
9g.95101695C=CA1865459491AOPEP,FANCCn.410+20915C=
n.2504G=
c.*12G= (n.*12G=)
c.2319+20915C= (n.2319+20915C=)
9g.95101695C>GCA2690785715AOPEP,FANCCn.410+20915C>G
n.2504G>C
c.*12G>C (n.*12G>C)
c.2319+20915C>G (n.2319+20915C>G)
 gnomAD v4
9g.95101695C>TCA589257958AOPEP,FANCCn.410+20915C>T
n.2504G>A
c.*12G>A (n.*12G>A)
c.2319+20915C>T (n.2319+20915C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95101696C>TCA2690785716AOPEP,FANCCn.410+20916C>T
n.2503G>A
c.*11G>A (n.*11G>A)
c.2319+20916C>T (n.2319+20916C>T)
 gnomAD v4
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.95101697T>CCA2720070040AOPEP,FANCCn.410+20917T>C
n.2502A>G
c.*10A>G (n.*10A>G)
c.2319+20917T>C (n.2319+20917T>C)
 dbSNP
9g.95101697T>GCA16605894AOPEP,FANCCn.410+20917T>G
n.2502A>C
c.*10A>C (n.*10A>C)
c.2319+20917T>G (n.2319+20917T>G)
 ClinVar dbSNP gnomAD v4
9g.95101697T=CA1865459493AOPEP,FANCCn.410+20917T=
n.2502A=
c.*10A= (n.*10A=)
c.2319+20917T= (n.2319+20917T=)
9g.95101698G>ACA5137280AOPEP,FANCCn.410+20918G>A
n.2501C>T
c.*9C>T (n.*9C>T)
c.2319+20918G>A (n.2319+20918G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101698G>CCA2690785717AOPEP,FANCCn.410+20918G>C
n.2501C>G
c.*9C>G (n.*9C>G)
c.2319+20918G>C (n.2319+20918G>C)
 gnomAD v4
9g.95101698G=CA1865459494AOPEP,FANCCn.410+20918G=
n.2501C=
c.*9C= (n.*9C=)
c.2319+20918G= (n.2319+20918G=)
9g.95101699C>ACA2720055441AOPEP,FANCCn.410+20919C>A
n.2500G>T
c.*8G>T (n.*8G>T)
c.2319+20919C>A (n.2319+20919C>A)
 dbSNP
9g.95101699C=CA1865459495AOPEP,FANCCn.410+20919C=
n.2500G=
c.*8G= (n.*8G=)
c.2319+20919C= (n.2319+20919C=)
9g.95101699C>TCA5137281AOPEP,FANCCn.410+20919C>T
n.2500G>A
c.*8G>A (n.*8G>A)
c.2319+20919C>T (n.2319+20919C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101700G>ACA5137282AOPEP,FANCCn.410+20920G>A
n.2499C>T
c.*7C>T (n.*7C>T)
c.2319+20920G>A (n.2319+20920G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101700G=CA1865459496AOPEP,FANCCn.410+20920G=
n.2499C=
c.*7C= (n.*7C=)
c.2319+20920G= (n.2319+20920G=)
9g.95101700G>TCA2690785718AOPEP,FANCCn.410+20920G>T
n.2499C>A
c.*7C>A (n.*7C>A)
c.2319+20920G>T (n.2319+20920G>T)
 gnomAD v4
9g.95101701T>GCA589257965AOPEP,FANCCn.410+20921T>G
n.2498A>C
c.*6A>C (n.*6A>C)
c.2319+20921T>G (n.2319+20921T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95101701T=CA1865459497AOPEP,FANCCn.410+20921T=
n.2498A=
c.*6A= (n.*6A=)
c.2319+20921T= (n.2319+20921T=)
9g.95101702G>ACA290835AOPEP,FANCCn.410+20922G>A
n.2497C>T
c.*5C>T (n.*5C>T)
c.2319+20922G>A (n.2319+20922G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101702G=CA1865459498AOPEP,FANCCn.410+20922G=
n.2497C=
c.*5C= (n.*5C=)
c.2319+20922G= (n.2319+20922G=)
9g.95101702_95101703insACA653184133AOPEP,FANCCn.410+20922_410+20923insA
n.2496_2497insT
c.*4_*5insT (n.*4_*5insT)
c.2319+20922_2319+20923insA (n.2319+20922_2319+20923insA)
9g.95101703C=CA1865459499AOPEP,FANCCn.410+20923C=
n.2496G=
c.*4G= (n.*4G=)
c.2319+20923C= (n.2319+20923C=)
9g.95101703C>GCA2690785719AOPEP,FANCCn.410+20923C>G
n.2496G>C
c.*4G>C (n.*4G>C)
c.2319+20923C>G (n.2319+20923C>G)
 gnomAD v4
9g.95101703C>TCA589257966AOPEP,FANCCn.410+20923C>T
n.2496G>A
c.*4G>A (n.*4G>A)
c.2319+20923C>T (n.2319+20923C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95101704C>TCA2690785720AOPEP,FANCCn.410+20924C>T
n.2495G>A
c.*3G>A (n.*3G>A)
c.2319+20924C>T (n.2319+20924C>T)
 gnomAD v4
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)
9g.95101720C=CA1865459505AOPEP,FANCCn.410+20940C=
n.2479G=
c.1664G= (p.Arg555=)
c.1809G= (n.1809G=)
c.983G= (p.Arg328=)
c.1499G= (p.Arg500=)
c.1208G= (p.Arg403=)
c.2319+20940C= (n.2319+20940C=)
c.1043G= (p.Arg348=)
9g.95101720C>GCA374104243AOPEP,FANCCn.410+20940C>G
n.2479G>C
c.1664G>C (p.Arg555Pro)
c.1809G>C (n.1809G>C)
c.983G>C (p.Arg328Pro)
c.1499G>C (p.Arg500Pro)
c.1208G>C (p.Arg403Pro)
c.2319+20940C>G (n.2319+20940C>G)
c.1043G>C (p.Arg348Pro)
 dbSNP
9g.95101720C>TCA5137286AOPEP,FANCCn.410+20940C>T
n.2479G>A
c.1664G>A (p.Arg555Gln)
c.1809G>A (n.1809G>A)
c.983G>A (p.Arg328Gln)
c.1499G>A (p.Arg500Gln)
c.1208G>A (p.Arg403Gln)
c.2319+20940C>T (n.2319+20940C>T)
c.1043G>A (p.Arg348Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.95101721G>ACA5137288AOPEP,FANCCn.410+20941G>A
n.2478C>T
c.1663C>T (p.Arg555Ter)
c.1808C>T (n.1808C>T)
c.982C>T (p.Arg328Ter)
c.1498C>T (p.Arg500Ter)
c.1207C>T (p.Arg403Ter)
c.2319+20941G>A (n.2319+20941G>A)
c.1042C>T (p.Arg348Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101721G>CCA374104244AOPEP,FANCCn.410+20941G>C
n.2478C>G
c.1663C>G (p.Arg555Gly)
c.1808C>G (n.1808C>G)
c.982C>G (p.Arg328Gly)
c.1498C>G (p.Arg500Gly)
c.1207C>G (p.Arg403Gly)
c.2319+20941G>C (n.2319+20941G>C)
c.1042C>G (p.Arg348Gly)
9g.95101721G=CA1865459506AOPEP,FANCCn.410+20941G=
n.2478C=
c.1663C= (p.Arg555=)
c.1808C= (n.1808C=)
c.982C= (p.Arg328=)
c.1498C= (p.Arg500=)
c.1207C= (p.Arg403=)
c.2319+20941G= (n.2319+20941G=)
c.1042C= (p.Arg348=)
9g.95101721G>TCA5137287AOPEP,FANCCn.410+20941G>T
n.2478C>A
c.1663C>A (p.Arg555=)
c.1808C>A (n.1808C>A)
c.982C>A (p.Arg328=)
c.1498C>A (p.Arg500=)
c.1207C>A (p.Arg403=)
c.2319+20941G>T (n.2319+20941G>T)
c.1042C>A (p.Arg348=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101722C>ACA466092044AOPEP,FANCCn.410+20942C>A
n.2477G>T
c.1662G>T (p.Leu554=)
c.1807G>T (n.1807G>T)
c.981G>T (p.Leu327=)
c.1497G>T (p.Leu499=)
c.1206G>T (p.Leu402=)
c.2319+20942C>A (n.2319+20942C>A)
c.1041G>T (p.Leu347=)
9g.95101722C>GCA466092043AOPEP,FANCCn.410+20942C>G
n.2477G>C
c.1662G>C (p.Leu554=)
c.1807G>C (n.1807G>C)
c.981G>C (p.Leu327=)
c.1497G>C (p.Leu499=)
c.1206G>C (p.Leu402=)
c.2319+20942C>G (n.2319+20942C>G)
c.1041G>C (p.Leu347=)
9g.95101722C>TCA466092042AOPEP,FANCCn.410+20942C>T
n.2477G>A
c.1662G>A (p.Leu554=)
c.1807G>A (n.1807G>A)
c.981G>A (p.Leu327=)
c.1497G>A (p.Leu499=)
c.1206G>A (p.Leu402=)
c.2319+20942C>T (n.2319+20942C>T)
c.1041G>A (p.Leu347=)
 ClinVar
9g.95101723A=CA1865459507AOPEP,FANCCn.410+20943A=
n.2476T=
c.1661T= (p.Leu554=)
c.1806T= (n.1806T=)
c.980T= (p.Leu327=)
c.1496T= (p.Leu499=)
c.1205T= (p.Leu402=)
c.2319+20943A= (n.2319+20943A=)
c.1040T= (p.Leu347=)
9g.95101723A>CCA374104245AOPEP,FANCCn.410+20943A>C
n.2476T>G
c.1661T>G (p.Leu554Arg)
c.1806T>G (n.1806T>G)
c.980T>G (p.Leu327Arg)
c.1496T>G (p.Leu499Arg)
c.1205T>G (p.Leu402Arg)
c.2319+20943A>C (n.2319+20943A>C)
c.1040T>G (p.Leu347Arg)
 gnomAD v4
9g.95101723A>GCA284829AOPEP,FANCCn.410+20943A>G
n.2476T>C
c.1661T>C (p.Leu554Pro)
c.1806T>C (n.1806T>C)
c.980T>C (p.Leu327Pro)
c.1496T>C (p.Leu499Pro)
c.1205T>C (p.Leu402Pro)
c.2319+20943A>G (n.2319+20943A>G)
c.1040T>C (p.Leu347Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101723A>TCA374104246AOPEP,FANCCn.410+20943A>T
n.2476T>A
c.1661T>A (p.Leu554Gln)
c.1806T>A (n.1806T>A)
c.980T>A (p.Leu327Gln)
c.1496T>A (p.Leu499Gln)
c.1205T>A (p.Leu402Gln)
c.2319+20943A>T (n.2319+20943A>T)
c.1040T>A (p.Leu347Gln)
9g.95101724G>ACA5137289AOPEP,FANCCn.410+20944G>A
n.2475C>T
c.1660C>T (p.Leu554=)
c.1805C>T (n.1805C>T)
c.979C>T (p.Leu327=)
c.1495C>T (p.Leu499=)
c.1204C>T (p.Leu402=)
c.2319+20944G>A (n.2319+20944G>A)
c.1039C>T (p.Leu347=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101724G>CCA374104247AOPEP,FANCCn.410+20944G>C
n.2475C>G
c.1660C>G (p.Leu554Val)
c.1805C>G (n.1805C>G)
c.979C>G (p.Leu327Val)
c.1495C>G (p.Leu499Val)
c.1204C>G (p.Leu402Val)
c.2319+20944G>C (n.2319+20944G>C)
c.1039C>G (p.Leu347Val)
9g.95101724G=CA1865459508AOPEP,FANCCn.410+20944G=
n.2475C=
c.1660C= (p.Leu554=)
c.1805C= (n.1805C=)
c.979C= (p.Leu327=)
c.1495C= (p.Leu499=)
c.1204C= (p.Leu402=)
c.2319+20944G= (n.2319+20944G=)
c.1039C= (p.Leu347=)
9g.95101724G>TCA374104248AOPEP,FANCCn.410+20944G>T
n.2475C>A
c.1660C>A (p.Leu554Met)
c.1805C>A (n.1805C>A)
c.979C>A (p.Leu327Met)
c.1495C>A (p.Leu499Met)
c.1204C>A (p.Leu402Met)
c.2319+20944G>T (n.2319+20944G>T)
c.1039C>A (p.Leu347Met)
9g.95101725C>ACA374104249AOPEP,FANCCn.410+20945C>A
n.2474G>T
c.1659G>T (p.Glu553Asp)
c.1804G>T (n.1804G>T)
c.978G>T (p.Glu326Asp)
c.1494G>T (p.Glu498Asp)
c.1203G>T (p.Glu401Asp)
c.2319+20945C>A (n.2319+20945C>A)
c.1038G>T (p.Glu346Asp)
9g.95101725C=CA1865459509AOPEP,FANCCn.410+20945C=
n.2474G=
c.1659G= (p.Glu553=)
c.1804G= (n.1804G=)
c.978G= (p.Glu326=)
c.1494G= (p.Glu498=)
c.1203G= (p.Glu401=)
c.2319+20945C= (n.2319+20945C=)
c.1038G= (p.Glu346=)
9g.95101725C>GCA374104250AOPEP,FANCCn.410+20945C>G
n.2474G>C
c.1659G>C (p.Glu553Asp)
c.1804G>C (n.1804G>C)
c.978G>C (p.Glu326Asp)
c.1494G>C (p.Glu498Asp)
c.1203G>C (p.Glu401Asp)
c.2319+20945C>G (n.2319+20945C>G)
c.1038G>C (p.Glu346Asp)
9g.95101725C>TCA466092045AOPEP,FANCCn.410+20945C>T
n.2474G>A
c.1659G>A (p.Glu553=)
c.1804G>A (n.1804G>A)
c.978G>A (p.Glu326=)
c.1494G>A (p.Glu498=)
c.1203G>A (p.Glu401=)
c.2319+20945C>T (n.2319+20945C>T)
c.1038G>A (p.Glu346=)
9g.95101726T>ACA374104251AOPEP,FANCCn.410+20946T>A
n.2473A>T
c.1658A>T (p.Glu553Val)
c.1803A>T (n.1803A>T)
c.977A>T (p.Glu326Val)
c.1493A>T (p.Glu498Val)
c.1202A>T (p.Glu401Val)
c.2319+20946T>A (n.2319+20946T>A)
c.1037A>T (p.Glu346Val)
 ClinVar
9g.95101726T>CCA374104252AOPEP,FANCCn.410+20946T>C
n.2473A>G
c.1658A>G (p.Glu553Gly)
c.1803A>G (n.1803A>G)
c.977A>G (p.Glu326Gly)
c.1493A>G (p.Glu498Gly)
c.1202A>G (p.Glu401Gly)
c.2319+20946T>C (n.2319+20946T>C)
c.1037A>G (p.Glu346Gly)
9g.95101726T>GCA374104253AOPEP,FANCCn.410+20946T>G
n.2473A>C
c.1658A>C (p.Glu553Ala)
c.1803A>C (n.1803A>C)
c.977A>C (p.Glu326Ala)
c.1493A>C (p.Glu498Ala)
c.1202A>C (p.Glu401Ala)
c.2319+20946T>G (n.2319+20946T>G)
c.1037A>C (p.Glu346Ala)
9g.95101727_95101730dupCA2580080687AOPEP,FANCCn.410+20947_410+20950dup
n.2470_2473dup
c.1655_1658dup (p.Leu554ArgfsTer?)
c.1800_1803dup (n.1800_1803dup)
c.974_977dup (p.Leu327ArgfsTer?)
c.1490_1493dup (p.Leu499ArgfsTer?)
c.1199_1202dup (p.Leu402ArgfsTer?)
c.2319+20947_2319+20950dup (n.2319+20947_2319+20950dup)
c.1034_1037dup (p.Leu347ArgfsTer?)
 ClinVar
9g.95101726_95101743dupCA915947014AOPEP,FANCCn.410+20946_410+20963dup
n.2456_2473dup
c.1641_1658dup (p.Lys552_Glu553insAspArgGluLeuLeuLys)
c.1786_1803dup (n.1786_1803dup)
c.960_977dup (p.Lys325_Glu326insAspArgGluLeuLeuLys)
c.1476_1493dup (p.Lys497_Glu498insAspArgGluLeuLeuLys)
c.1185_1202dup (p.Lys400_Glu401insAspArgGluLeuLeuLys)
c.2319+20946_2319+20963dup (n.2319+20946_2319+20963dup)
c.1020_1037dup (p.Lys345_Glu346insAspArgGluLeuLeuLys)
 ClinVar dbSNP gnomAD v4
9g.95101727C>ACA374104254AOPEP,FANCCn.410+20947C>A
n.2472G>T
c.1657G>T (p.Glu553Ter)
c.1802G>T (n.1802G>T)
c.976G>T (p.Glu326Ter)
c.1492G>T (p.Glu498Ter)
c.1201G>T (p.Glu401Ter)
c.2319+20947C>A (n.2319+20947C>A)
c.1036G>T (p.Glu346Ter)
9g.95101727C=CA1865459510AOPEP,FANCCn.410+20947C=
n.2472G=
c.1657G= (p.Glu553=)
c.1802G= (n.1802G=)
c.976G= (p.Glu326=)
c.1492G= (p.Glu498=)
c.1201G= (p.Glu401=)
c.2319+20947C= (n.2319+20947C=)
c.1036G= (p.Glu346=)
9g.95101727C>GCA374104255AOPEP,FANCCn.410+20947C>G
n.2472G>C
c.1657G>C (p.Glu553Gln)
c.1802G>C (n.1802G>C)
c.976G>C (p.Glu326Gln)
c.1492G>C (p.Glu498Gln)
c.1201G>C (p.Glu401Gln)
c.2319+20947C>G (n.2319+20947C>G)
c.1036G>C (p.Glu346Gln)
9g.95101727C>TCA374104256AOPEP,FANCCn.410+20947C>T
n.2472G>A
c.1657G>A (p.Glu553Lys)
c.1802G>A (n.1802G>A)
c.976G>A (p.Glu326Lys)
c.1492G>A (p.Glu498Lys)
c.1201G>A (p.Glu401Lys)
c.2319+20947C>T (n.2319+20947C>T)
c.1036G>A (p.Glu346Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95101728T>ACA374104258AOPEP,FANCCn.410+20948T>A
n.2471A>T
c.1656A>T (p.Lys552Asn)
c.1801A>T (n.1801A>T)
c.975A>T (p.Lys325Asn)
c.1491A>T (p.Lys497Asn)
c.1200A>T (p.Lys400Asn)
c.2319+20948T>A (n.2319+20948T>A)
c.1035A>T (p.Lys345Asn)
9g.95101728T>CCA466092046AOPEP,FANCCn.410+20948T>C
n.2471A>G
c.1656A>G (p.Lys552=)
c.1801A>G (n.1801A>G)
c.975A>G (p.Lys325=)
c.1491A>G (p.Lys497=)
c.1200A>G (p.Lys400=)
c.2319+20948T>C (n.2319+20948T>C)
c.1035A>G (p.Lys345=)
 ClinVar
9g.95101728T>GCA374104257AOPEP,FANCCn.410+20948T>G
n.2471A>C
c.1656A>C (p.Lys552Asn)
c.1801A>C (n.1801A>C)
c.975A>C (p.Lys325Asn)
c.1491A>C (p.Lys497Asn)
c.1200A>C (p.Lys400Asn)
c.2319+20948T>G (n.2319+20948T>G)
c.1035A>C (p.Lys345Asn)
9g.95101729T>ACA374104259AOPEP,FANCCn.410+20949T>A
n.2470A>T
c.1655A>T (p.Lys552Ile)
c.1800A>T (n.1800A>T)
c.974A>T (p.Lys325Ile)
c.1490A>T (p.Lys497Ile)
c.1199A>T (p.Lys400Ile)
c.2319+20949T>A (n.2319+20949T>A)
c.1034A>T (p.Lys345Ile)
9g.95101729T>CCA374104260AOPEP,FANCCn.410+20949T>C
n.2470A>G
c.1655A>G (p.Lys552Arg)
c.1800A>G (n.1800A>G)
c.974A>G (p.Lys325Arg)
c.1490A>G (p.Lys497Arg)
c.1199A>G (p.Lys400Arg)
c.2319+20949T>C (n.2319+20949T>C)
c.1034A>G (p.Lys345Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.95101729T>GCA374104261AOPEP,FANCCn.410+20949T>G
n.2470A>C
c.1655A>C (p.Lys552Thr)
c.1800A>C (n.1800A>C)
c.974A>C (p.Lys325Thr)
c.1490A>C (p.Lys497Thr)
c.1199A>C (p.Lys400Thr)
c.2319+20949T>G (n.2319+20949T>G)
c.1034A>C (p.Lys345Thr)
9g.95101729T=CA1865459511AOPEP,FANCCn.410+20949T=
n.2470A=
c.1655A= (p.Lys552=)
c.1800A= (n.1800A=)
c.974A= (p.Lys325=)
c.1490A= (p.Lys497=)
c.1199A= (p.Lys400=)
c.2319+20949T= (n.2319+20949T=)
c.1034A= (p.Lys345=)
9g.95101730T>ACA374104262AOPEP,FANCCn.410+20950T>A
n.2469A>T
c.1654A>T (p.Lys552Ter)
c.1799A>T (n.1799A>T)
c.973A>T (p.Lys325Ter)
c.1489A>T (p.Lys497Ter)
c.1198A>T (p.Lys400Ter)
c.2319+20950T>A (n.2319+20950T>A)
c.1033A>T (p.Lys345Ter)
9g.95101730T>CCA374104263AOPEP,FANCCn.410+20950T>C
n.2469A>G
c.1654A>G (p.Lys552Glu)
c.1799A>G (n.1799A>G)
c.973A>G (p.Lys325Glu)
c.1489A>G (p.Lys497Glu)
c.1198A>G (p.Lys400Glu)
c.2319+20950T>C (n.2319+20950T>C)
c.1033A>G (p.Lys345Glu)
 ClinVar gnomAD v4
9g.95101730T>GCA374104264AOPEP,FANCCn.410+20950T>G
n.2469A>C
c.1654A>C (p.Lys552Gln)
c.1799A>C (n.1799A>C)
c.973A>C (p.Lys325Gln)
c.1489A>C (p.Lys497Gln)
c.1198A>C (p.Lys400Gln)
c.2319+20950T>G (n.2319+20950T>G)
c.1033A>C (p.Lys345Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.95101730T=CA1865459512AOPEP,FANCCn.410+20950T=
n.2469A=
c.1654A= (p.Lys552=)
c.1799A= (n.1799A=)
c.973A= (p.Lys325=)
c.1489A= (p.Lys497=)
c.1198A= (p.Lys400=)
c.2319+20950T= (n.2319+20950T=)
c.1033A= (p.Lys345=)
9g.95101731A>CCA466092047AOPEP,FANCCn.410+20951A>C
n.2468T>G
c.1653T>G (p.Leu551=)
c.1798T>G (n.1798T>G)
c.972T>G (p.Leu324=)
c.1488T>G (p.Leu496=)
c.1197T>G (p.Leu399=)
c.2319+20951A>C (n.2319+20951A>C)
c.1032T>G (p.Leu344=)
9g.95101731A>GCA466092048AOPEP,FANCCn.410+20951A>G
n.2468T>C
c.1653T>C (p.Leu551=)
c.1798T>C (n.1798T>C)
c.972T>C (p.Leu324=)
c.1488T>C (p.Leu496=)
c.1197T>C (p.Leu399=)
c.2319+20951A>G (n.2319+20951A>G)
c.1032T>C (p.Leu344=)
9g.95101731A>TCA466092049AOPEP,FANCCn.410+20951A>T
n.2468T>A
c.1653T>A (p.Leu551=)
c.1798T>A (n.1798T>A)
c.972T>A (p.Leu324=)
c.1488T>A (p.Leu496=)
c.1197T>A (p.Leu399=)
c.2319+20951A>T (n.2319+20951A>T)
c.1032T>A (p.Leu344=)
9g.95101732dupCA2573144781AOPEP,FANCCn.410+20952dup
n.2468dup
c.1653dup (p.Lys552Ter)
c.1798dup (n.1798dup)
c.972dup (p.Lys325Ter)
c.1488dup (p.Lys497Ter)
c.1197dup (p.Lys400Ter)
c.2319+20952dup (n.2319+20952dup)
c.1032dup (p.Lys345Ter)
 ClinVar dbSNP
9g.95101732A>CCA374104265AOPEP,FANCCn.410+20952A>C
n.2467T>G
c.1652T>G (p.Leu551Arg)
c.1797T>G (n.1797T>G)
c.971T>G (p.Leu324Arg)
c.1487T>G (p.Leu496Arg)
c.1196T>G (p.Leu399Arg)
c.2319+20952A>C (n.2319+20952A>C)
c.1031T>G (p.Leu344Arg)
9g.95101732A>GCA374104267AOPEP,FANCCn.410+20952A>G
n.2467T>C
c.1652T>C (p.Leu551Pro)
c.1797T>C (n.1797T>C)
c.971T>C (p.Leu324Pro)
c.1487T>C (p.Leu496Pro)
c.1196T>C (p.Leu399Pro)
c.2319+20952A>G (n.2319+20952A>G)
c.1031T>C (p.Leu344Pro)
9g.95101732A>TCA374104266AOPEP,FANCCn.410+20952A>T
n.2467T>A
c.1652T>A (p.Leu551His)
c.1797T>A (n.1797T>A)
c.971T>A (p.Leu324His)
c.1487T>A (p.Leu496His)
c.1196T>A (p.Leu399His)
c.2319+20952A>T (n.2319+20952A>T)
c.1031T>A (p.Leu344His)
 ClinVar
9g.95101732_95101733dupCA2582342008AOPEP,FANCCn.410+20952_410+20953dup
n.2466_2467dup
c.1651_1652dup (p.Lys552LeufsTer?)
c.1796_1797dup (n.1796_1797dup)
c.970_971dup (p.Lys325LeufsTer?)
c.1486_1487dup (p.Lys497LeufsTer?)
c.1195_1196dup (p.Lys400LeufsTer?)
c.2319+20952_2319+20953dup (n.2319+20952_2319+20953dup)
c.1030_1031dup (p.Lys345LeufsTer?)
 ClinVar
9g.95101733G>ACA374104268AOPEP,FANCCn.410+20953G>A
n.2466C>T
c.1651C>T (p.Leu551Phe)
c.1796C>T (n.1796C>T)
c.970C>T (p.Leu324Phe)
c.1486C>T (p.Leu496Phe)
c.1195C>T (p.Leu399Phe)
c.2319+20953G>A (n.2319+20953G>A)
c.1030C>T (p.Leu344Phe)
9g.95101733G>CCA374104270AOPEP,FANCCn.410+20953G>C
n.2466C>G
c.1651C>G (p.Leu551Val)
c.1796C>G (n.1796C>G)
c.970C>G (p.Leu324Val)
c.1486C>G (p.Leu496Val)
c.1195C>G (p.Leu399Val)
c.2319+20953G>C (n.2319+20953G>C)
c.1030C>G (p.Leu344Val)
9g.95101733G>TCA374104273AOPEP,FANCCn.410+20953G>T
n.2466C>A
c.1651C>A (p.Leu551Ile)
c.1796C>A (n.1796C>A)
c.970C>A (p.Leu324Ile)
c.1486C>A (p.Leu496Ile)
c.1195C>A (p.Leu399Ile)
c.2319+20953G>T (n.2319+20953G>T)
c.1030C>A (p.Leu344Ile)
9g.95101734G>ACA466092050AOPEP,FANCCn.410+20954G>A
n.2465C>T
c.1650C>T (p.Leu550=)
c.1795C>T (n.1795C>T)
c.969C>T (p.Leu323=)
c.1485C>T (p.Leu495=)
c.1194C>T (p.Leu398=)
c.2319+20954G>A (n.2319+20954G>A)
c.1029C>T (p.Leu343=)
 gnomAD v4
9g.95101734G>CCA466092051AOPEP,FANCCn.410+20954G>C
n.2465C>G
c.1650C>G (p.Leu550=)
c.1795C>G (n.1795C>G)
c.969C>G (p.Leu323=)
c.1485C>G (p.Leu495=)
c.1194C>G (p.Leu398=)
c.2319+20954G>C (n.2319+20954G>C)
c.1029C>G (p.Leu343=)
 gnomAD v4
9g.95101734G>TCA466092052AOPEP,FANCCn.410+20954G>T
n.2465C>A
c.1650C>A (p.Leu550=)
c.1795C>A (n.1795C>A)
c.969C>A (p.Leu323=)
c.1485C>A (p.Leu495=)
c.1194C>A (p.Leu398=)
c.2319+20954G>T (n.2319+20954G>T)
c.1029C>A (p.Leu343=)
9g.95101735A>CCA374104276AOPEP,FANCCn.410+20955A>C
n.2464T>G
c.1649T>G (p.Leu550Arg)
c.1794T>G (n.1794T>G)
c.968T>G (p.Leu323Arg)
c.1484T>G (p.Leu495Arg)
c.1193T>G (p.Leu398Arg)
c.2319+20955A>C (n.2319+20955A>C)
c.1028T>G (p.Leu343Arg)
9g.95101735A>GCA374104278AOPEP,FANCCn.410+20955A>G
n.2464T>C
c.1649T>C (p.Leu550Pro)
c.1794T>C (n.1794T>C)
c.968T>C (p.Leu323Pro)
c.1484T>C (p.Leu495Pro)
c.1193T>C (p.Leu398Pro)
c.2319+20955A>G (n.2319+20955A>G)
c.1028T>C (p.Leu343Pro)
9g.95101735A>TCA374104280AOPEP,FANCCn.410+20955A>T
n.2464T>A
c.1649T>A (p.Leu550His)
c.1794T>A (n.1794T>A)
c.968T>A (p.Leu323His)
c.1484T>A (p.Leu495His)
c.1193T>A (p.Leu398His)
c.2319+20955A>T (n.2319+20955A>T)
c.1028T>A (p.Leu343His)
9g.95101736G>ACA374104283AOPEP,FANCCn.410+20956G>A
n.2463C>T
c.1648C>T (p.Leu550Phe)
c.1793C>T (n.1793C>T)
c.967C>T (p.Leu323Phe)
c.1483C>T (p.Leu495Phe)
c.1192C>T (p.Leu398Phe)
c.2319+20956G>A (n.2319+20956G>A)
c.1027C>T (p.Leu343Phe)
 dbSNP gnomAD v4
9g.95101736G>CCA374104286AOPEP,FANCCn.410+20956G>C
n.2463C>G
c.1648C>G (p.Leu550Val)
c.1793C>G (n.1793C>G)
c.967C>G (p.Leu323Val)
c.1483C>G (p.Leu495Val)
c.1192C>G (p.Leu398Val)
c.2319+20956G>C (n.2319+20956G>C)
c.1027C>G (p.Leu343Val)
9g.95101736G=CA1865459513AOPEP,FANCCn.410+20956G=
n.2463C=
c.1648C= (p.Leu550=)
c.1793C= (n.1793C=)
c.967C= (p.Leu323=)
c.1483C= (p.Leu495=)
c.1192C= (p.Leu398=)
c.2319+20956G= (n.2319+20956G=)
c.1027C= (p.Leu343=)
9g.95101736G>TCA374104288AOPEP,FANCCn.410+20956G>T
n.2463C>A
c.1648C>A (p.Leu550Ile)
c.1793C>A (n.1793C>A)
c.967C>A (p.Leu323Ile)
c.1483C>A (p.Leu495Ile)
c.1192C>A (p.Leu398Ile)
c.2319+20956G>T (n.2319+20956G>T)
c.1027C>A (p.Leu343Ile)
9g.95101737C>ACA374104290AOPEP,FANCCn.410+20957C>A
n.2462G>T
c.1647G>T (p.Glu549Asp)
c.1792G>T (n.1792G>T)
c.966G>T (p.Glu322Asp)
c.1482G>T (p.Glu494Asp)
c.1191G>T (p.Glu397Asp)
c.2319+20957C>A (n.2319+20957C>A)
c.1026G>T (p.Glu342Asp)
 dbSNP
9g.95101737C=CA1865459514AOPEP,FANCCn.410+20957C=
n.2462G=
c.1647G= (p.Glu549=)
c.1792G= (n.1792G=)
c.966G= (p.Glu322=)
c.1482G= (p.Glu494=)
c.1191G= (p.Glu397=)
c.2319+20957C= (n.2319+20957C=)
c.1026G= (p.Glu342=)
9g.95101737C>GCA374104293AOPEP,FANCCn.410+20957C>G
n.2462G>C
c.1647G>C (p.Glu549Asp)
c.1792G>C (n.1792G>C)
c.966G>C (p.Glu322Asp)
c.1482G>C (p.Glu494Asp)
c.1191G>C (p.Glu397Asp)
c.2319+20957C>G (n.2319+20957C>G)
c.1026G>C (p.Glu342Asp)
 dbSNP gnomAD v4
9g.95101737C>TCA466092053AOPEP,FANCCn.410+20957C>T
n.2462G>A
c.1647G>A (p.Glu549=)
c.1792G>A (n.1792G>A)
c.966G>A (p.Glu322=)
c.1482G>A (p.Glu494=)
c.1191G>A (p.Glu397=)
c.2319+20957C>T (n.2319+20957C>T)
c.1026G>A (p.Glu342=)
9g.95101738T>ACA374104296AOPEP,FANCCn.410+20958T>A
n.2461A>T
c.1646A>T (p.Glu549Val)
c.1791A>T (n.1791A>T)
c.965A>T (p.Glu322Val)
c.1481A>T (p.Glu494Val)
c.1190A>T (p.Glu397Val)
c.2319+20958T>A (n.2319+20958T>A)
c.1025A>T (p.Glu342Val)
9g.95101738T>CCA374104301AOPEP,FANCCn.410+20958T>C
n.2461A>G
c.1646A>G (p.Glu549Gly)
c.1791A>G (n.1791A>G)
c.965A>G (p.Glu322Gly)
c.1481A>G (p.Glu494Gly)
c.1190A>G (p.Glu397Gly)
c.2319+20958T>C (n.2319+20958T>C)
c.1025A>G (p.Glu342Gly)
9g.95101738T>GCA374104298AOPEP,FANCCn.410+20958T>G
n.2461A>C
c.1646A>C (p.Glu549Ala)
c.1791A>C (n.1791A>C)
c.965A>C (p.Glu322Ala)
c.1481A>C (p.Glu494Ala)
c.1190A>C (p.Glu397Ala)
c.2319+20958T>G (n.2319+20958T>G)
c.1025A>C (p.Glu342Ala)
9g.95101739C>ACA374104303AOPEP,FANCCn.410+20959C>A
n.2460G>T
c.1645G>T (p.Glu549Ter)
c.1790G>T (n.1790G>T)
c.964G>T (p.Glu322Ter)
c.1480G>T (p.Glu494Ter)
c.1189G>T (p.Glu397Ter)
c.2319+20959C>A (n.2319+20959C>A)
c.1024G>T (p.Glu342Ter)
9g.95101739C=CA1865459515AOPEP,FANCCn.410+20959C=
n.2460G=
c.1645G= (p.Glu549=)
c.1790G= (n.1790G=)
c.964G= (p.Glu322=)
c.1480G= (p.Glu494=)
c.1189G= (p.Glu397=)
c.2319+20959C= (n.2319+20959C=)
c.1024G= (p.Glu342=)
9g.95101739C>GCA374104307AOPEP,FANCCn.410+20959C>G
n.2460G>C
c.1645G>C (p.Glu549Gln)
c.1790G>C (n.1790G>C)
c.964G>C (p.Glu322Gln)
c.1480G>C (p.Glu494Gln)
c.1189G>C (p.Glu397Gln)
c.2319+20959C>G (n.2319+20959C>G)
c.1024G>C (p.Glu342Gln)
 ClinVar dbSNP
9g.95101739C>TCA374104304AOPEP,FANCCn.410+20959C>T
n.2460G>A
c.1645G>A (p.Glu549Lys)
c.1790G>A (n.1790G>A)
c.964G>A (p.Glu322Lys)
c.1480G>A (p.Glu494Lys)
c.1189G>A (p.Glu397Lys)
c.2319+20959C>T (n.2319+20959C>T)
c.1024G>A (p.Glu342Lys)
9g.95101740T>ACA466092054AOPEP,FANCCn.410+20960T>A
n.2459A>T
c.1644A>T (p.Arg548=)
c.1789A>T (n.1789A>T)
c.963A>T (p.Arg321=)
c.1479A>T (p.Arg493=)
c.1188A>T (p.Arg396=)
c.2319+20960T>A (n.2319+20960T>A)
c.1023A>T (p.Arg341=)
9g.95101740T>CCA466092055AOPEP,FANCCn.410+20960T>C
n.2459A>G
c.1644A>G (p.Arg548=)
c.1789A>G (n.1789A>G)
c.963A>G (p.Arg321=)
c.1479A>G (p.Arg493=)
c.1188A>G (p.Arg396=)
c.2319+20960T>C (n.2319+20960T>C)
c.1023A>G (p.Arg341=)
9g.95101740T>GCA466092056AOPEP,FANCCn.410+20960T>G
n.2459A>C
c.1644A>C (p.Arg548=)
c.1789A>C (n.1789A>C)
c.963A>C (p.Arg321=)
c.1479A>C (p.Arg493=)
c.1188A>C (p.Arg396=)
c.2319+20960T>G (n.2319+20960T>G)
c.1023A>C (p.Arg341=)
9g.95101741C>ACA374104310AOPEP,FANCCn.410+20961C>A
n.2458G>T
c.1643G>T (p.Arg548Leu)
c.1788G>T (n.1788G>T)
c.962G>T (p.Arg321Leu)
c.1478G>T (p.Arg493Leu)
c.1187G>T (p.Arg396Leu)
c.2319+20961C>A (n.2319+20961C>A)
c.1022G>T (p.Arg341Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.95101741C=CA1865459516AOPEP,FANCCn.410+20961C=
n.2458G=
c.1643G= (p.Arg548=)
c.1788G= (n.1788G=)
c.962G= (p.Arg321=)
c.1478G= (p.Arg493=)
c.1187G= (p.Arg396=)
c.2319+20961C= (n.2319+20961C=)
c.1022G= (p.Arg341=)
9g.95101741C>GCA374104312AOPEP,FANCCn.410+20961C>G
n.2458G>C
c.1643G>C (p.Arg548Pro)
c.1788G>C (n.1788G>C)
c.962G>C (p.Arg321Pro)
c.1478G>C (p.Arg493Pro)
c.1187G>C (p.Arg396Pro)
c.2319+20961C>G (n.2319+20961C>G)
c.1022G>C (p.Arg341Pro)
 dbSNP
9g.95101741C>TCA299203AOPEP,FANCCn.410+20961C>T
n.2458G>A
c.1643G>A (p.Arg548Gln)
c.1788G>A (n.1788G>A)
c.962G>A (p.Arg321Gln)
c.1478G>A (p.Arg493Gln)
c.1187G>A (p.Arg396Gln)
c.2319+20961C>T (n.2319+20961C>T)
c.1022G>A (p.Arg341Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95101742G>ACA284826AOPEP,FANCCn.410+20962G>A
n.2457C>T
c.1642C>T (p.Arg548Ter)
c.1787C>T (n.1787C>T)
c.961C>T (p.Arg321Ter)
c.1477C>T (p.Arg493Ter)
c.1186C>T (p.Arg396Ter)
c.2319+20962G>A (n.2319+20962G>A)
c.1021C>T (p.Arg341Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.95101742G>CCA374104318AOPEP,FANCCn.410+20962G>C
n.2457C>G
c.1642C>G (p.Arg548Gly)
c.1787C>G (n.1787C>G)
c.961C>G (p.Arg321Gly)
c.1477C>G (p.Arg493Gly)
c.1186C>G (p.Arg396Gly)
c.2319+20962G>C (n.2319+20962G>C)
c.1021C>G (p.Arg341Gly)
9g.95101742G=CA1865459517AOPEP,FANCCn.410+20962G=
n.2457C=
c.1642C= (p.Arg548=)
c.1787C= (n.1787C=)
c.961C= (p.Arg321=)
c.1477C= (p.Arg493=)
c.1186C= (p.Arg396=)
c.2319+20962G= (n.2319+20962G=)
c.1021C= (p.Arg341=)
9g.95101742G>TCA466092057AOPEP,FANCCn.410+20962G>T
n.2457C>A
c.1642C>A (p.Arg548=)
c.1787C>A (n.1787C>A)
c.961C>A (p.Arg321=)
c.1477C>A (p.Arg493=)
c.1186C>A (p.Arg396=)
c.2319+20962G>T (n.2319+20962G>T)
c.1021C>A (p.Arg341=)
 dbSNP
9g.95101743G>ACA466092058AOPEP,FANCCn.410+20963G>A
n.2456C>T
c.1641C>T (p.Ala547=)
c.1786C>T (n.1786C>T)
c.960C>T (p.Ala320=)
c.1476C>T (p.Ala492=)
c.1185C>T (p.Ala395=)
c.2319+20963G>A (n.2319+20963G>A)
c.1020C>T (p.Ala340=)
 dbSNP
9g.95101743G>CCA466092059AOPEP,FANCCn.410+20963G>C
n.2456C>G
c.1641C>G (p.Ala547=)
c.1786C>G (n.1786C>G)
c.960C>G (p.Ala320=)
c.1476C>G (p.Ala492=)
c.1185C>G (p.Ala395=)
c.2319+20963G>C (n.2319+20963G>C)
c.1020C>G (p.Ala340=)
9g.95101743G>TCA466092060AOPEP,FANCCn.410+20963G>T
n.2456C>A
c.1641C>A (p.Ala547=)
c.1786C>A (n.1786C>A)
c.960C>A (p.Ala320=)
c.1476C>A (p.Ala492=)
c.1185C>A (p.Ala395=)
c.2319+20963G>T (n.2319+20963G>T)
c.1020C>A (p.Ala340=)
9g.95101744G>ACA374104321AOPEP,FANCCn.410+20964G>A
n.2455C>T
c.1640C>T (p.Ala547Val)
c.1785C>T (n.1785C>T)
c.959C>T (p.Ala320Val)
c.1475C>T (p.Ala492Val)
c.1184C>T (p.Ala395Val)
c.2319+20964G>A (n.2319+20964G>A)
c.1019C>T (p.Ala340Val)
 ClinVar dbSNP gnomAD v4
9g.95101744G>CCA374104322AOPEP,FANCCn.410+20964G>C
n.2455C>G
c.1640C>G (p.Ala547Gly)
c.1785C>G (n.1785C>G)
c.959C>G (p.Ala320Gly)
c.1475C>G (p.Ala492Gly)
c.1184C>G (p.Ala395Gly)
c.2319+20964G>C (n.2319+20964G>C)
c.1019C>G (p.Ala340Gly)
 ClinVar
9g.95101744G=CA1865459518AOPEP,FANCCn.410+20964G=
n.2455C=
c.1640C= (p.Ala547=)
c.1785C= (n.1785C=)
c.959C= (p.Ala320=)
c.1475C= (p.Ala492=)
c.1184C= (p.Ala395=)
c.2319+20964G= (n.2319+20964G=)
c.1019C= (p.Ala340=)
9g.95101744G>TCA374104323AOPEP,FANCCn.410+20964G>T
n.2455C>A
c.1640C>A (p.Ala547Asp)
c.1785C>A (n.1785C>A)
c.959C>A (p.Ala320Asp)
c.1475C>A (p.Ala492Asp)
c.1184C>A (p.Ala395Asp)
c.2319+20964G>T (n.2319+20964G>T)
c.1019C>A (p.Ala340Asp)
9g.95101745C>ACA374104325AOPEP,FANCCn.410+20965C>A
n.2454G>T
c.1639G>T (p.Ala547Ser)
c.1784G>T (n.1784G>T)
c.958G>T (p.Ala320Ser)
c.1474G>T (p.Ala492Ser)
c.1183G>T (p.Ala395Ser)
c.2319+20965C>A (n.2319+20965C>A)
c.1018G>T (p.Ala340Ser)
 ClinVar
9g.95101745C>GCA374104327AOPEP,FANCCn.410+20965C>G
n.2454G>C
c.1639G>C (p.Ala547Pro)
c.1784G>C (n.1784G>C)
c.958G>C (p.Ala320Pro)
c.1474G>C (p.Ala492Pro)
c.1183G>C (p.Ala395Pro)
c.2319+20965C>G (n.2319+20965C>G)
c.1018G>C (p.Ala340Pro)
9g.95101745C>TCA374104329AOPEP,FANCCn.410+20965C>T
n.2454G>A
c.1639G>A (p.Ala547Thr)
c.1784G>A (n.1784G>A)
c.958G>A (p.Ala320Thr)
c.1474G>A (p.Ala492Thr)
c.1183G>A (p.Ala395Thr)
c.2319+20965C>T (n.2319+20965C>T)
c.1018G>A (p.Ala340Thr)
 ClinVar
9g.95101746C>ACA466092061AOPEP,FANCCn.410+20966C>A
n.2453G>T
c.1638G>T (p.Leu546=)
c.1783G>T (n.1783G>T)
c.957G>T (p.Leu319=)
c.1473G>T (p.Leu491=)
c.1182G>T (p.Leu394=)
c.2319+20966C>A (n.2319+20966C>A)
c.1017G>T (p.Leu339=)
9g.95101746C=CA1865459519AOPEP,FANCCn.410+20966C=
n.2453G=
c.1638G= (p.Leu546=)
c.1783G= (n.1783G=)
c.957G= (p.Leu319=)
c.1473G= (p.Leu491=)
c.1182G= (p.Leu394=)
c.2319+20966C= (n.2319+20966C=)
c.1017G= (p.Leu339=)
9g.95101746C>GCA466092062AOPEP,FANCCn.410+20966C>G
n.2453G>C
c.1638G>C (p.Leu546=)
c.1783G>C (n.1783G>C)
c.957G>C (p.Leu319=)
c.1473G>C (p.Leu491=)
c.1182G>C (p.Leu394=)
c.2319+20966C>G (n.2319+20966C>G)
c.1017G>C (p.Leu339=)
9g.95101746C>TCA466092063AOPEP,FANCCn.410+20966C>T
n.2453G>A
c.1638G>A (p.Leu546=)
c.1783G>A (n.1783G>A)
c.957G>A (p.Leu319=)
c.1473G>A (p.Leu491=)
c.1182G>A (p.Leu394=)
c.2319+20966C>T (n.2319+20966C>T)
c.1017G>A (p.Leu339=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95101747A=CA1865459520AOPEP,FANCCn.410+20967A=
n.2452T=
c.1637T= (p.Leu546=)
c.1782T= (n.1782T=)
c.956T= (p.Leu319=)
c.1472T= (p.Leu491=)
c.1181T= (p.Leu394=)
c.2319+20967A= (n.2319+20967A=)
c.1016T= (p.Leu339=)
9g.95101747A>CCA374104336AOPEP,FANCCn.410+20967A>C
n.2452T>G
c.1637T>G (p.Leu546Arg)
c.1782T>G (n.1782T>G)
c.956T>G (p.Leu319Arg)
c.1472T>G (p.Leu491Arg)
c.1181T>G (p.Leu394Arg)
c.2319+20967A>C (n.2319+20967A>C)
c.1016T>G (p.Leu339Arg)
9g.95101747A>GCA374104334AOPEP,FANCCn.410+20967A>G
n.2452T>C
c.1637T>C (p.Leu546Pro)
c.1782T>C (n.1782T>C)
c.956T>C (p.Leu319Pro)
c.1472T>C (p.Leu491Pro)
c.1181T>C (p.Leu394Pro)
c.2319+20967A>G (n.2319+20967A>G)
c.1016T>C (p.Leu339Pro)
 dbSNP gnomAD v3 gnomAD v4
9g.95101747A>TCA374104332AOPEP,FANCCn.410+20967A>T
n.2452T>A
c.1637T>A (p.Leu546Gln)
c.1782T>A (n.1782T>A)
c.956T>A (p.Leu319Gln)
c.1472T>A (p.Leu491Gln)
c.1181T>A (p.Leu394Gln)
c.2319+20967A>T (n.2319+20967A>T)
c.1016T>A (p.Leu339Gln)
9g.95101748G>ACA466092064AOPEP,FANCCn.410+20968G>A
n.2451C>T
c.1636C>T (p.Leu546=)
c.1781C>T (n.1781C>T)
c.955C>T (p.Leu319=)
c.1471C>T (p.Leu491=)
c.1180C>T (p.Leu394=)
c.2319+20968G>A (n.2319+20968G>A)
c.1015C>T (p.Leu339=)
9g.95101748G>CCA374104339AOPEP,FANCCn.410+20968G>C
n.2451C>G
c.1636C>G (p.Leu546Val)
c.1781C>G (n.1781C>G)
c.955C>G (p.Leu319Val)
c.1471C>G (p.Leu491Val)
c.1180C>G (p.Leu394Val)
c.2319+20968G>C (n.2319+20968G>C)
c.1015C>G (p.Leu339Val)
 ClinVar dbSNP gnomAD v4
9g.95101748G=CA1865459521AOPEP,FANCCn.410+20968G=
n.2451C=
c.1636C= (p.Leu546=)
c.1781C= (n.1781C=)
c.955C= (p.Leu319=)
c.1471C= (p.Leu491=)
c.1180C= (p.Leu394=)
c.2319+20968G= (n.2319+20968G=)
c.1015C= (p.Leu339=)
9g.95101748G>TCA374104341AOPEP,FANCCn.410+20968G>T
n.2451C>A
c.1636C>A (p.Leu546Met)
c.1781C>A (n.1781C>A)
c.955C>A (p.Leu319Met)
c.1471C>A (p.Leu491Met)
c.1180C>A (p.Leu394Met)
c.2319+20968G>T (n.2319+20968G>T)
c.1015C>A (p.Leu339Met)
9g.95101749T>ACA374104344AOPEP,FANCCn.410+20969T>A
n.2450A>T
c.1635A>T (p.Lys545Asn)
c.1780A>T (n.1780A>T)
c.954A>T (p.Lys318Asn)
c.1470A>T (p.Lys490Asn)
c.1179A>T (p.Lys393Asn)
c.2319+20969T>A (n.2319+20969T>A)
c.1014A>T (p.Lys338Asn)
9g.95101749T>CCA466092065AOPEP,FANCCn.410+20969T>C
n.2450A>G
c.1635A>G (p.Lys545=)
c.1780A>G (n.1780A>G)
c.954A>G (p.Lys318=)
c.1470A>G (p.Lys490=)
c.1179A>G (p.Lys393=)
c.2319+20969T>C (n.2319+20969T>C)
c.1014A>G (p.Lys338=)
9g.95101749T>GCA374104346AOPEP,FANCCn.410+20969T>G
n.2450A>C
c.1635A>C (p.Lys545Asn)
c.1780A>C (n.1780A>C)
c.954A>C (p.Lys318Asn)
c.1470A>C (p.Lys490Asn)
c.1179A>C (p.Lys393Asn)
c.2319+20969T>G (n.2319+20969T>G)
c.1014A>C (p.Lys338Asn)
9g.95101751_95101753delCA2573053198AOPEP,FANCCn.410+20971_410+20973del
n.2448_2450del
c.1633_1635del (p.Lys545del)
c.1778_1780del (n.1778_1780del)
c.952_954del (p.Lys318del)
c.1468_1470del (p.Lys490del)
c.1177_1179del (p.Lys393del)
c.2319+20971_2319+20973del (n.2319+20971_2319+20973del)
c.1012_1014del (p.Lys338del)
 ClinVar dbSNP
9g.95101750T>ACA374104347AOPEP,FANCCn.410+20970T>A
n.2449A>T
c.1634A>T (p.Lys545Ile)
c.1779A>T (n.1779A>T)
c.953A>T (p.Lys318Ile)
c.1469A>T (p.Lys490Ile)
c.1178A>T (p.Lys393Ile)
c.2319+20970T>A (n.2319+20970T>A)
c.1013A>T (p.Lys338Ile)
9g.95101750T>CCA5137290AOPEP,FANCCn.410+20970T>C
n.2449A>G
c.1634A>G (p.Lys545Arg)
c.1779A>G (n.1779A>G)
c.953A>G (p.Lys318Arg)
c.1469A>G (p.Lys490Arg)
c.1178A>G (p.Lys393Arg)
c.2319+20970T>C (n.2319+20970T>C)
c.1013A>G (p.Lys338Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101750T>GCA374104350AOPEP,FANCCn.410+20970T>G
n.2449A>C
c.1634A>C (p.Lys545Thr)
c.1779A>C (n.1779A>C)
c.953A>C (p.Lys318Thr)
c.1469A>C (p.Lys490Thr)
c.1178A>C (p.Lys393Thr)
c.2319+20970T>G (n.2319+20970T>G)
c.1013A>C (p.Lys338Thr)
9g.95101750T=CA1865459522AOPEP,FANCCn.410+20970T=
n.2449A=
c.1634A= (p.Lys545=)
c.1779A= (n.1779A=)
c.953A= (p.Lys318=)
c.1469A= (p.Lys490=)
c.1178A= (p.Lys393=)
c.2319+20970T= (n.2319+20970T=)
c.1013A= (p.Lys338=)
9g.95101751T>ACA374104353AOPEP,FANCCn.410+20971T>A
n.2448A>T
c.1633A>T (p.Lys545Ter)
c.1778A>T (n.1778A>T)
c.952A>T (p.Lys318Ter)
c.1468A>T (p.Lys490Ter)
c.1177A>T (p.Lys393Ter)
c.2319+20971T>A (n.2319+20971T>A)
c.1012A>T (p.Lys338Ter)
9g.95101751T>CCA16618872AOPEP,FANCCn.410+20971T>C
n.2448A>G
c.1633A>G (p.Lys545Glu)
c.1778A>G (n.1778A>G)
c.952A>G (p.Lys318Glu)
c.1468A>G (p.Lys490Glu)
c.1177A>G (p.Lys393Glu)
c.2319+20971T>C (n.2319+20971T>C)
c.1012A>G (p.Lys338Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95101751T>GCA16618873AOPEP,FANCCn.410+20971T>G
n.2448A>C
c.1633A>C (p.Lys545Gln)
c.1778A>C (n.1778A>C)
c.952A>C (p.Lys318Gln)
c.1468A>C (p.Lys490Gln)
c.1177A>C (p.Lys393Gln)
c.2319+20971T>G (n.2319+20971T>G)
c.1012A>C (p.Lys338Gln)
 ClinVar dbSNP
9g.95101751T=CA1865459523AOPEP,FANCCn.410+20971T=
n.2448A=
c.1633A= (p.Lys545=)
c.1778A= (n.1778A=)
c.952A= (p.Lys318=)
c.1468A= (p.Lys490=)
c.1177A= (p.Lys393=)
c.2319+20971T= (n.2319+20971T=)
c.1012A= (p.Lys338=)
9g.95101752T>ACA374104357AOPEP,FANCCn.410+20972T>A
n.2447A>T
c.1632A>T (p.Glu544Asp)
c.1777A>T (n.1777A>T)
c.951A>T (p.Glu317Asp)
c.1467A>T (p.Glu489Asp)
c.1176A>T (p.Glu392Asp)
c.2319+20972T>A (n.2319+20972T>A)
c.1011A>T (p.Glu337Asp)
9g.95101752T>CCA466092066AOPEP,FANCCn.410+20972T>C
n.2447A>G
c.1632A>G (p.Glu544=)
c.1777A>G (n.1777A>G)
c.951A>G (p.Glu317=)
c.1467A>G (p.Glu489=)
c.1176A>G (p.Glu392=)
c.2319+20972T>C (n.2319+20972T>C)
c.1011A>G (p.Glu337=)
 gnomAD v4
9g.95101752T>GCA374104359AOPEP,FANCCn.410+20972T>G
n.2447A>C
c.1632A>C (p.Glu544Asp)
c.1777A>C (n.1777A>C)
c.951A>C (p.Glu317Asp)
c.1467A>C (p.Glu489Asp)
c.1176A>C (p.Glu392Asp)
c.2319+20972T>G (n.2319+20972T>G)
c.1011A>C (p.Glu337Asp)
9g.95101753T>ACA374104366AOPEP,FANCCn.410+20973T>A
n.2446A>T
c.1631A>T (p.Glu544Val)
c.1776A>T (n.1776A>T)
c.950A>T (p.Glu317Val)
c.1466A>T (p.Glu489Val)
c.1175A>T (p.Glu392Val)
c.2319+20973T>A (n.2319+20973T>A)
c.1010A>T (p.Glu337Val)
9g.95101753T>CCA374104364AOPEP,FANCCn.410+20973T>C
n.2446A>G
c.1631A>G (p.Glu544Gly)
c.1776A>G (n.1776A>G)
c.950A>G (p.Glu317Gly)
c.1466A>G (p.Glu489Gly)
c.1175A>G (p.Glu392Gly)
c.2319+20973T>C (n.2319+20973T>C)
c.1010A>G (p.Glu337Gly)
 ClinVar gnomAD v4
9g.95101753T>GCA374104362AOPEP,FANCCn.410+20973T>G
n.2446A>C
c.1631A>C (p.Glu544Ala)
c.1776A>C (n.1776A>C)
c.950A>C (p.Glu317Ala)
c.1466A>C (p.Glu489Ala)
c.1175A>C (p.Glu392Ala)
c.2319+20973T>G (n.2319+20973T>G)
c.1010A>C (p.Glu337Ala)
9g.95101754C>ACA374104372AOPEP,FANCCn.410+20974C>A
n.2445G>T
c.1630G>T (p.Glu544Ter)
c.1775G>T (n.1775G>T)
c.949G>T (p.Glu317Ter)
c.1465G>T (p.Glu489Ter)
c.1174G>T (p.Glu392Ter)
c.2319+20974C>A (n.2319+20974C>A)
c.1009G>T (p.Glu337Ter)
9g.95101754C>GCA374104369AOPEP,FANCCn.410+20974C>G
n.2445G>C
c.1630G>C (p.Glu544Gln)
c.1775G>C (n.1775G>C)
c.949G>C (p.Glu317Gln)
c.1465G>C (p.Glu489Gln)
c.1174G>C (p.Glu392Gln)
c.2319+20974C>G (n.2319+20974C>G)
c.1009G>C (p.Glu337Gln)
9g.95101754C>TCA374104371AOPEP,FANCCn.410+20974C>T
n.2445G>A
c.1630G>A (p.Glu544Lys)
c.1775G>A (n.1775G>A)
c.949G>A (p.Glu317Lys)
c.1465G>A (p.Glu489Lys)
c.1174G>A (p.Glu392Lys)
c.2319+20974C>T (n.2319+20974C>T)
c.1009G>A (p.Glu337Lys)
9g.95101755T>ACA466092067AOPEP,FANCCn.410+20975T>A
n.2444A>T
c.1629A>T (p.Ser543=)
c.1774A>T (n.1774A>T)
c.948A>T (p.Ser316=)
c.1464A>T (p.Ser488=)
c.1173A>T (p.Ser391=)
c.2319+20975T>A (n.2319+20975T>A)
c.1008A>T (p.Ser336=)
9g.95101755T>CCA466092068AOPEP,FANCCn.410+20975T>C
n.2444A>G
c.1629A>G (p.Ser543=)
c.1774A>G (n.1774A>G)
c.948A>G (p.Ser316=)
c.1464A>G (p.Ser488=)
c.1173A>G (p.Ser391=)
c.2319+20975T>C (n.2319+20975T>C)
c.1008A>G (p.Ser336=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.95101755T>GCA466092069AOPEP,FANCCn.410+20975T>G
n.2444A>C
c.1629A>C (p.Ser543=)
c.1774A>C (n.1774A>C)
c.948A>C (p.Ser316=)
c.1464A>C (p.Ser488=)
c.1173A>C (p.Ser391=)
c.2319+20975T>G (n.2319+20975T>G)
c.1008A>C (p.Ser336=)
9g.95101755T=CA1865459524AOPEP,FANCCn.410+20975T=
n.2444A=
c.1629A= (p.Ser543=)
c.1774A= (n.1774A=)
c.948A= (p.Ser316=)
c.1464A= (p.Ser488=)
c.1173A= (p.Ser391=)
c.2319+20975T= (n.2319+20975T=)
c.1008A= (p.Ser336=)
9g.95101756G>ACA374104373AOPEP,FANCCn.410+20976G>A
n.2443C>T
c.1628C>T (p.Ser543Leu)
c.1773C>T (n.1773C>T)
c.947C>T (p.Ser316Leu)
c.1463C>T (p.Ser488Leu)
c.1172C>T (p.Ser391Leu)
c.2319+20976G>A (n.2319+20976G>A)
c.1007C>T (p.Ser336Leu)
 ClinVar
9g.95101756G>CCA374104375AOPEP,FANCCn.410+20976G>C
n.2443C>G
c.1628C>G (p.Ser543Ter)
c.1773C>G (n.1773C>G)
c.947C>G (p.Ser316Ter)
c.1463C>G (p.Ser488Ter)
c.1172C>G (p.Ser391Ter)
c.2319+20976G>C (n.2319+20976G>C)
c.1007C>G (p.Ser336Ter)
9g.95101756G=CA1865459526AOPEP,FANCCn.410+20976G=
n.2443C=
c.1628C= (p.Ser543=)
c.1773C= (n.1773C=)
c.947C= (p.Ser316=)
c.1463C= (p.Ser488=)
c.1172C= (p.Ser391=)
c.2319+20976G= (n.2319+20976G=)
c.1007C= (p.Ser336=)
9g.95101756G>TCA16041334AOPEP,FANCCn.410+20976G>T
n.2443C>A
c.1628C>A (p.Ser543Ter)
c.1773C>A (n.1773C>A)
c.947C>A (p.Ser316Ter)
c.1463C>A (p.Ser488Ter)
c.1172C>A (p.Ser391Ter)
c.2319+20976G>T (n.2319+20976G>T)
c.1007C>A (p.Ser336Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.95101756_95101757delinsGACA1865459525AOPEP,FANCCn.410+20976_410+20977delinsGA
n.2442_2443delinsTC
c.1627_1628delinsTC (p.Ser543=)
c.1772_1773delinsTC (n.1772_1773delinsTC)
c.946_947delinsTC (p.Ser316=)
c.1462_1463delinsTC (p.Ser488=)
c.1171_1172delinsTC (p.Ser391=)
c.2319+20976_2319+20977delinsGA (n.2319+20976_2319+20977delinsGA)
c.1006_1007delinsTC (p.Ser336=)
9g.95101756_95101757delinsTTCA349363AOPEP,FANCCn.410+20976_410+20977delinsTT
n.2442_2443delinsAA
c.1627_1628delinsAA (p.Ser543Lys)
c.1772_1773delinsAA (n.1772_1773delinsAA)
c.946_947delinsAA (p.Ser316Lys)
c.1462_1463delinsAA (p.Ser488Lys)
c.1171_1172delinsAA (p.Ser391Lys)
c.2319+20976_2319+20977delinsTT (n.2319+20976_2319+20977delinsTT)
c.1006_1007delinsAA (p.Ser336Lys)
 ClinVar dbSNP
9g.95101757A=CA1865459527AOPEP,FANCCn.410+20977A=
n.2442T=
c.1627T= (p.Ser543=)
c.1772T= (n.1772T=)
c.946T= (p.Ser316=)
c.1462T= (p.Ser488=)
c.1171T= (p.Ser391=)
c.2319+20977A= (n.2319+20977A=)
c.1006T= (p.Ser336=)
9g.95101757A>CCA374104381AOPEP,FANCCn.410+20977A>C
n.2442T>G
c.1627T>G (p.Ser543Ala)
c.1772T>G (n.1772T>G)
c.946T>G (p.Ser316Ala)
c.1462T>G (p.Ser488Ala)
c.1171T>G (p.Ser391Ala)
c.2319+20977A>C (n.2319+20977A>C)
c.1006T>G (p.Ser336Ala)
9g.95101757A>GCA374104383AOPEP,FANCCn.410+20977A>G
n.2442T>C
c.1627T>C (p.Ser543Pro)
c.1772T>C (n.1772T>C)
c.946T>C (p.Ser316Pro)
c.1462T>C (p.Ser488Pro)
c.1171T>C (p.Ser391Pro)
c.2319+20977A>G (n.2319+20977A>G)
c.1006T>C (p.Ser336Pro)
 ClinVar dbSNP
9g.95101757A>TCA374104385AOPEP,FANCCn.410+20977A>T
n.2442T>A
c.1627T>A (p.Ser543Thr)
c.1772T>A (n.1772T>A)
c.946T>A (p.Ser316Thr)
c.1462T>A (p.Ser488Thr)
c.1171T>A (p.Ser391Thr)
c.2319+20977A>T (n.2319+20977A>T)
c.1006T>A (p.Ser336Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.95101758T>ACA374104388AOPEP,FANCCn.410+20978T>A
n.2441A>T
c.1626A>T (p.Arg542Ser)
c.1771A>T (n.1771A>T)
c.945A>T (p.Arg315Ser)
c.1461A>T (p.Arg487Ser)
c.1170A>T (p.Arg390Ser)
c.2319+20978T>A (n.2319+20978T>A)
c.1005A>T (p.Arg335Ser)
9g.95101758T>CCA466092070AOPEP,FANCCn.410+20978T>C
n.2441A>G
c.1626A>G (p.Arg542=)
c.1771A>G (n.1771A>G)
c.945A>G (p.Arg315=)
c.1461A>G (p.Arg487=)
c.1170A>G (p.Arg390=)
c.2319+20978T>C (n.2319+20978T>C)
c.1005A>G (p.Arg335=)
 ClinVar
9g.95101758T>GCA374104390AOPEP,FANCCn.410+20978T>G
n.2441A>C
c.1626A>C (p.Arg542Ser)
c.1771A>C (n.1771A>C)
c.945A>C (p.Arg315Ser)
c.1461A>C (p.Arg487Ser)
c.1170A>C (p.Arg390Ser)
c.2319+20978T>G (n.2319+20978T>G)
c.1005A>C (p.Arg335Ser)
9g.95101759C>ACA374104393AOPEP,FANCCn.410+20979C>A
n.2440G>T
c.1625G>T (p.Arg542Ile)
c.1770G>T (n.1770G>T)
c.944G>T (p.Arg315Ile)
c.1460G>T (p.Arg487Ile)
c.1169G>T (p.Arg390Ile)
c.2319+20979C>A (n.2319+20979C>A)
c.1004G>T (p.Arg335Ile)
9g.95101759C=CA1865459528AOPEP,FANCCn.410+20979C=
n.2440G=
c.1625G= (p.Arg542=)
c.1770G= (n.1770G=)
c.944G= (p.Arg315=)
c.1460G= (p.Arg487=)
c.1169G= (p.Arg390=)
c.2319+20979C= (n.2319+20979C=)
c.1004G= (p.Arg335=)
9g.95101759C>GCA374104395AOPEP,FANCCn.410+20979C>G
n.2440G>C
c.1625G>C (p.Arg542Thr)
c.1770G>C (n.1770G>C)
c.944G>C (p.Arg315Thr)
c.1460G>C (p.Arg487Thr)
c.1169G>C (p.Arg390Thr)
c.2319+20979C>G (n.2319+20979C>G)
c.1004G>C (p.Arg335Thr)
 dbSNP
9g.95101759C>TCA374104397AOPEP,FANCCn.410+20979C>T
n.2440G>A
c.1625G>A (p.Arg542Lys)
c.1770G>A (n.1770G>A)
c.944G>A (p.Arg315Lys)
c.1460G>A (p.Arg487Lys)
c.1169G>A (p.Arg390Lys)
c.2319+20979C>T (n.2319+20979C>T)
c.1004G>A (p.Arg335Lys)
 ClinVar dbSNP
9g.95101760T>ACA374104399AOPEP,FANCCn.410+20980T>A
n.2439A>T
c.1624A>T (p.Arg542Ter)
c.1769A>T (n.1769A>T)
c.943A>T (p.Arg315Ter)
c.1459A>T (p.Arg487Ter)
c.1168A>T (p.Arg390Ter)
c.2319+20980T>A (n.2319+20980T>A)
c.1003A>T (p.Arg335Ter)
9g.95101760T>CCA374104401AOPEP,FANCCn.410+20980T>C
n.2439A>G
c.1624A>G (p.Arg542Gly)
c.1769A>G (n.1769A>G)
c.943A>G (p.Arg315Gly)
c.1459A>G (p.Arg487Gly)
c.1168A>G (p.Arg390Gly)
c.2319+20980T>C (n.2319+20980T>C)
c.1003A>G (p.Arg335Gly)
 ClinVar gnomAD v4
9g.95101760T>GCA466092071AOPEP,FANCCn.410+20980T>G
n.2439A>C
c.1624A>C (p.Arg542=)
c.1769A>C (n.1769A>C)
c.943A>C (p.Arg315=)
c.1459A>C (p.Arg487=)
c.1168A>C (p.Arg390=)
c.2319+20980T>G (n.2319+20980T>G)
c.1003A>C (p.Arg335=)
 dbSNP gnomAD v2 gnomAD v4
9g.95101760T=CA1865459529AOPEP,FANCCn.410+20980T=
n.2439A=
c.1624A= (p.Arg542=)
c.1769A= (n.1769A=)
c.943A= (p.Arg315=)
c.1459A= (p.Arg487=)
c.1168A= (p.Arg390=)
c.2319+20980T= (n.2319+20980T=)
c.1003A= (p.Arg335=)
9g.95101761A=CA1865459530AOPEP,FANCCn.410+20981A=
n.2438T=
c.1623T= (p.Pro541=)
c.1768T= (n.1768T=)
c.942T= (p.Pro314=)
c.1458T= (p.Pro486=)
c.1167T= (p.Pro389=)
c.2319+20981A= (n.2319+20981A=)
c.1002T= (p.Pro334=)
9g.95101761A>CCA337181AOPEP,FANCCn.410+20981A>C
n.2438T>G
c.1623T>G (p.Pro541=)
c.1768T>G (n.1768T>G)
c.942T>G (p.Pro314=)
c.1458T>G (p.Pro486=)
c.1167T>G (p.Pro389=)
c.2319+20981A>C (n.2319+20981A>C)
c.1002T>G (p.Pro334=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101761A>GCA466092072AOPEP,FANCCn.410+20981A>G
n.2438T>C
c.1623T>C (p.Pro541=)
c.1768T>C (n.1768T>C)
c.942T>C (p.Pro314=)
c.1458T>C (p.Pro486=)
c.1167T>C (p.Pro389=)
c.2319+20981A>G (n.2319+20981A>G)
c.1002T>C (p.Pro334=)
 gnomAD v4
9g.95101761A>TCA466092073AOPEP,FANCCn.410+20981A>T
n.2438T>A
c.1623T>A (p.Pro541=)
c.1768T>A (n.1768T>A)
c.942T>A (p.Pro314=)
c.1458T>A (p.Pro486=)
c.1167T>A (p.Pro389=)
c.2319+20981A>T (n.2319+20981A>T)
c.1002T>A (p.Pro334=)
9g.95101761_95101762delinsAGCA1865459531AOPEP,FANCCn.410+20981_410+20982delinsAG
n.2437_2438delinsCT
c.1622_1623delinsCT (p.Pro541=)
c.1767_1768delinsCT (n.1767_1768delinsCT)
c.941_942delinsCT (p.Pro314=)
c.1457_1458delinsCT (p.Pro486=)
c.1166_1167delinsCT (p.Pro389=)
c.2319+20981_2319+20982delinsAG (n.2319+20981_2319+20982delinsAG)
c.1001_1002delinsCT (p.Pro334=)
9g.95101762G>ACA374104406AOPEP,FANCCn.410+20982G>A
n.2437C>T
c.1622C>T (p.Pro541Leu)
c.1767C>T (n.1767C>T)
c.941C>T (p.Pro314Leu)
c.1457C>T (p.Pro486Leu)
c.1166C>T (p.Pro389Leu)
c.2319+20982G>A (n.2319+20982G>A)
c.1001C>T (p.Pro334Leu)
 ClinVar dbSNP
9g.95101762G>CCA374104408AOPEP,FANCCn.410+20982G>C
n.2437C>G
c.1622C>G (p.Pro541Arg)
c.1767C>G (n.1767C>G)
c.941C>G (p.Pro314Arg)
c.1457C>G (p.Pro486Arg)
c.1166C>G (p.Pro389Arg)
c.2319+20982G>C (n.2319+20982G>C)
c.1001C>G (p.Pro334Arg)
9g.95101762G=CA1865459532AOPEP,FANCCn.410+20982G=
n.2437C=
c.1622C= (p.Pro541=)
c.1767C= (n.1767C=)
c.941C= (p.Pro314=)
c.1457C= (p.Pro486=)
c.1166C= (p.Pro389=)
c.2319+20982G= (n.2319+20982G=)
c.1001C= (p.Pro334=)
9g.95101762G>TCA374104411AOPEP,FANCCn.410+20982G>T
n.2437C>A
c.1622C>A (p.Pro541His)
c.1767C>A (n.1767C>A)
c.941C>A (p.Pro314His)
c.1457C>A (p.Pro486His)
c.1166C>A (p.Pro389His)
c.2319+20982G>T (n.2319+20982G>T)
c.1001C>A (p.Pro334His)
9g.95101764delCA196536701AOPEP,FANCCn.410+20984del
n.2437del
c.1622del (p.Pro541LeufsTer?)
c.1767del (n.1767del)
c.941del (p.Pro314LeufsTer?)
c.1457del (p.Pro486LeufsTer?)
c.1166del (p.Pro389LeufsTer?)
c.2319+20984del (n.2319+20984del)
c.1001del (p.Pro334LeufsTer?)
 dbSNP
9g.95101763G>ACA374104415AOPEP,FANCCn.410+20983G>A
n.2436C>T
c.1621C>T (p.Pro541Ser)
c.1766C>T (n.1766C>T)
c.940C>T (p.Pro314Ser)
c.1456C>T (p.Pro486Ser)
c.1165C>T (p.Pro389Ser)
c.2319+20983G>A (n.2319+20983G>A)
c.1000C>T (p.Pro334Ser)
 ClinVar dbSNP gnomAD v4
9g.95101763G>CCA374104417AOPEP,FANCCn.410+20983G>C
n.2436C>G
c.1621C>G (p.Pro541Ala)
c.1766C>G (n.1766C>G)
c.940C>G (p.Pro314Ala)
c.1456C>G (p.Pro486Ala)
c.1165C>G (p.Pro389Ala)
c.2319+20983G>C (n.2319+20983G>C)
c.1000C>G (p.Pro334Ala)
9g.95101763G=CA1865459533AOPEP,FANCCn.410+20983G=
n.2436C=
c.1621C= (p.Pro541=)
c.1766C= (n.1766C=)
c.940C= (p.Pro314=)
c.1456C= (p.Pro486=)
c.1165C= (p.Pro389=)
c.2319+20983G= (n.2319+20983G=)
c.1000C= (p.Pro334=)
9g.95101763G>TCA374104419AOPEP,FANCCn.410+20983G>T
n.2436C>A
c.1621C>A (p.Pro541Thr)
c.1766C>A (n.1766C>A)
c.940C>A (p.Pro314Thr)
c.1456C>A (p.Pro486Thr)
c.1165C>A (p.Pro389Thr)
c.2319+20983G>T (n.2319+20983G>T)
c.1000C>A (p.Pro334Thr)
9g.95101764G>ACA466092074AOPEP,FANCCn.410+20984G>A
n.2435C>T
c.1620C>T (p.Ser540=)
c.1765C>T (n.1765C>T)
c.939C>T (p.Ser313=)
c.1455C>T (p.Ser485=)
c.1164C>T (p.Ser388=)
c.2319+20984G>A (n.2319+20984G>A)
c.999C>T (p.Ser333=)
 ClinVar
9g.95101764G>CCA374104420AOPEP,FANCCn.410+20984G>C
n.2435C>G
c.1620C>G (p.Ser540Arg)
c.1765C>G (n.1765C>G)
c.939C>G (p.Ser313Arg)
c.1455C>G (p.Ser485Arg)
c.1164C>G (p.Ser388Arg)
c.2319+20984G>C (n.2319+20984G>C)
c.999C>G (p.Ser333Arg)
9g.95101764G>TCA374104423AOPEP,FANCCn.410+20984G>T
n.2435C>A
c.1620C>A (p.Ser540Arg)
c.1765C>A (n.1765C>A)
c.939C>A (p.Ser313Arg)
c.1455C>A (p.Ser485Arg)
c.1164C>A (p.Ser388Arg)
c.2319+20984G>T (n.2319+20984G>T)
c.999C>A (p.Ser333Arg)
9g.95101765C>ACA374104430AOPEP,FANCCn.410+20985C>A
n.2434G>T
c.1619G>T (p.Ser540Ile)
c.1764G>T (n.1764G>T)
c.938G>T (p.Ser313Ile)
c.1454G>T (p.Ser485Ile)
c.1163G>T (p.Ser388Ile)
c.2319+20985C>A (n.2319+20985C>A)
c.998G>T (p.Ser333Ile)
9g.95101765C>GCA374104432AOPEP,FANCCn.410+20985C>G
n.2434G>C
c.1619G>C (p.Ser540Thr)
c.1764G>C (n.1764G>C)
c.938G>C (p.Ser313Thr)
c.1454G>C (p.Ser485Thr)
c.1163G>C (p.Ser388Thr)
c.2319+20985C>G (n.2319+20985C>G)
c.998G>C (p.Ser333Thr)
9g.95101765C>TCA374104434AOPEP,FANCCn.410+20985C>T
n.2434G>A
c.1619G>A (p.Ser540Asn)
c.1764G>A (n.1764G>A)
c.938G>A (p.Ser313Asn)
c.1454G>A (p.Ser485Asn)
c.1163G>A (p.Ser388Asn)
c.2319+20985C>T (n.2319+20985C>T)
c.998G>A (p.Ser333Asn)
9g.95101765_95101766insGACA2690785721AOPEP,FANCCn.410+20985_410+20986insGA
n.2433_2434insTC
c.1618_1619insTC (p.Ser540IlefsTer?)
c.1763_1764insTC (n.1763_1764insTC)
c.937_938insTC (p.Ser313IlefsTer?)
c.1453_1454insTC (p.Ser485IlefsTer?)
c.1162_1163insTC (p.Ser388IlefsTer?)
c.2319+20985_2319+20986insGA (n.2319+20985_2319+20986insGA)
c.997_998insTC (p.Ser333IlefsTer?)
 gnomAD v4
9g.95101766T>ACA374104438AOPEP,FANCCn.410+20986T>A
n.2433A>T
c.1618A>T (p.Ser540Cys)
c.1763A>T (n.1763A>T)
c.937A>T (p.Ser313Cys)
c.1453A>T (p.Ser485Cys)
c.1162A>T (p.Ser388Cys)
c.2319+20986T>A (n.2319+20986T>A)
c.997A>T (p.Ser333Cys)
 gnomAD v4
9g.95101766T>CCA374104440AOPEP,FANCCn.410+20986T>C
n.2433A>G
c.1618A>G (p.Ser540Gly)
c.1763A>G (n.1763A>G)
c.937A>G (p.Ser313Gly)
c.1453A>G (p.Ser485Gly)
c.1162A>G (p.Ser388Gly)
c.2319+20986T>C (n.2319+20986T>C)
c.997A>G (p.Ser333Gly)
 ClinVar
9g.95101766T>GCA374104437AOPEP,FANCCn.410+20986T>G
n.2433A>C
c.1618A>C (p.Ser540Arg)
c.1763A>C (n.1763A>C)
c.937A>C (p.Ser313Arg)
c.1453A>C (p.Ser485Arg)
c.1162A>C (p.Ser388Arg)
c.2319+20986T>G (n.2319+20986T>G)
c.997A>C (p.Ser333Arg)
 ClinVar dbSNP gnomAD v4
9g.95101766T=CA1865459534AOPEP,FANCCn.410+20986T=
n.2433A=
c.1618A= (p.Ser540=)
c.1763A= (n.1763A=)
c.937A= (p.Ser313=)
c.1453A= (p.Ser485=)
c.1162A= (p.Ser388=)
c.2319+20986T= (n.2319+20986T=)
c.997A= (p.Ser333=)
9g.95101766delinsGAACA2573053199AOPEP,FANCCn.410+20986delinsGAA
n.2433delinsTTC
c.1618delinsTTC (p.Ser540PhefsTer?)
c.1763delinsTTC (n.1763delinsTTC)
c.937delinsTTC (p.Ser313PhefsTer?)
c.1453delinsTTC (p.Ser485PhefsTer?)
c.1162delinsTTC (p.Ser388PhefsTer?)
c.2319+20986delinsGAA (n.2319+20986delinsGAA)
c.997delinsTTC (p.Ser333PhefsTer?)
 ClinVar dbSNP
9g.95101767T>ACA374104442AOPEP,FANCCn.410+20987T>A
n.2432A>T
c.1617A>T (p.Glu539Asp)
c.1762A>T (n.1762A>T)
c.936A>T (p.Glu312Asp)
c.1452A>T (p.Glu484Asp)
c.1161A>T (p.Glu387Asp)
c.2319+20987T>A (n.2319+20987T>A)
c.996A>T (p.Glu332Asp)
9g.95101767T>CCA466092075AOPEP,FANCCn.410+20987T>C
n.2432A>G
c.1617A>G (p.Glu539=)
c.1762A>G (n.1762A>G)
c.936A>G (p.Glu312=)
c.1452A>G (p.Glu484=)
c.1161A>G (p.Glu387=)
c.2319+20987T>C (n.2319+20987T>C)
c.996A>G (p.Glu332=)
 dbSNP
9g.95101767T>GCA374104444AOPEP,FANCCn.410+20987T>G
n.2432A>C
c.1617A>C (p.Glu539Asp)
c.1762A>C (n.1762A>C)
c.936A>C (p.Glu312Asp)
c.1452A>C (p.Glu484Asp)
c.1161A>C (p.Glu387Asp)
c.2319+20987T>G (n.2319+20987T>G)
c.996A>C (p.Glu332Asp)
 COSMIC
9g.95101767T=CA1865459535AOPEP,FANCCn.410+20987T=
n.2432A=
c.1617A= (p.Glu539=)
c.1762A= (n.1762A=)
c.936A= (p.Glu312=)
c.1452A= (p.Glu484=)
c.1161A= (p.Glu387=)
c.2319+20987T= (n.2319+20987T=)
c.996A= (p.Glu332=)
9g.95101768T>ACA374104447AOPEP,FANCCn.410+20988T>A
n.2431A>T
c.1616A>T (p.Glu539Val)
c.1761A>T (n.1761A>T)
c.935A>T (p.Glu312Val)
c.1451A>T (p.Glu484Val)
c.1160A>T (p.Glu387Val)
c.2319+20988T>A (n.2319+20988T>A)
c.995A>T (p.Glu332Val)
 dbSNP
9g.95101768T>CCA374104449AOPEP,FANCCn.410+20988T>C
n.2431A>G
c.1616A>G (p.Glu539Gly)
c.1761A>G (n.1761A>G)
c.935A>G (p.Glu312Gly)
c.1451A>G (p.Glu484Gly)
c.1160A>G (p.Glu387Gly)
c.2319+20988T>C (n.2319+20988T>C)
c.995A>G (p.Glu332Gly)
9g.95101768T>GCA374104451AOPEP,FANCCn.410+20988T>G
n.2431A>C
c.1616A>C (p.Glu539Ala)
c.1761A>C (n.1761A>C)
c.935A>C (p.Glu312Ala)
c.1451A>C (p.Glu484Ala)
c.1160A>C (p.Glu387Ala)
c.2319+20988T>G (n.2319+20988T>G)
c.995A>C (p.Glu332Ala)
9g.95101769C>ACA374104454AOPEP,FANCCn.410+20989C>A
n.2430G>T
c.1615G>T (p.Glu539Ter)
c.1760G>T (n.1760G>T)
c.934G>T (p.Glu312Ter)
c.1450G>T (p.Glu484Ter)
c.1159G>T (p.Glu387Ter)
c.2319+20989C>A (n.2319+20989C>A)
c.994G>T (p.Glu332Ter)
9g.95101769C=CA1865459536AOPEP,FANCCn.410+20989C=
n.2430G=
c.1615G= (p.Glu539=)
c.1760G= (n.1760G=)
c.934G= (p.Glu312=)
c.1450G= (p.Glu484=)
c.1159G= (p.Glu387=)
c.2319+20989C= (n.2319+20989C=)
c.994G= (p.Glu332=)
9g.95101769C>GCA374104456AOPEP,FANCCn.410+20989C>G
n.2430G>C
c.1615G>C (p.Glu539Gln)
c.1760G>C (n.1760G>C)
c.934G>C (p.Glu312Gln)
c.1450G>C (p.Glu484Gln)
c.1159G>C (p.Glu387Gln)
c.2319+20989C>G (n.2319+20989C>G)
c.994G>C (p.Glu332Gln)
 dbSNP
9g.95101769C>TCA374104458AOPEP,FANCCn.410+20989C>T
n.2430G>A
c.1615G>A (p.Glu539Lys)
c.1760G>A (n.1760G>A)
c.934G>A (p.Glu312Lys)
c.1450G>A (p.Glu484Lys)
c.1159G>A (p.Glu387Lys)
c.2319+20989C>T (n.2319+20989C>T)
c.994G>A (p.Glu332Lys)
 ClinVar dbSNP gnomAD v4 COSMIC
9g.95101770A=CA1865459537AOPEP,FANCCn.410+20990A=
n.2429T=
c.1614T= (p.Ile538=)
c.1759T= (n.1759T=)
c.933T= (p.Ile311=)
c.1449T= (p.Ile483=)
c.1158T= (p.Ile386=)
c.2319+20990A= (n.2319+20990A=)
c.993T= (p.Ile331=)
9g.95101770A>CCA374104461AOPEP,FANCCn.410+20990A>C
n.2429T>G
c.1614T>G (p.Ile538Met)
c.1759T>G (n.1759T>G)
c.933T>G (p.Ile311Met)
c.1449T>G (p.Ile483Met)
c.1158T>G (p.Ile386Met)
c.2319+20990A>C (n.2319+20990A>C)
c.993T>G (p.Ile331Met)
 gnomAD v4
9g.95101770A>GCA196536710AOPEP,FANCCn.410+20990A>G
n.2429T>C
c.1614T>C (p.Ile538=)
c.1759T>C (n.1759T>C)
c.933T>C (p.Ile311=)
c.1449T>C (p.Ile483=)
c.1158T>C (p.Ile386=)
c.2319+20990A>G (n.2319+20990A>G)
c.993T>C (p.Ile331=)
 ClinVar dbSNP
9g.95101770A>TCA466092076AOPEP,FANCCn.410+20990A>T
n.2429T>A
c.1614T>A (p.Ile538=)
c.1759T>A (n.1759T>A)
c.933T>A (p.Ile311=)
c.1449T>A (p.Ile483=)
c.1158T>A (p.Ile386=)
c.2319+20990A>T (n.2319+20990A>T)
c.993T>A (p.Ile331=)
9g.95101771A=CA1865459538AOPEP,FANCCn.410+20991A=
n.2428T=
c.1613T= (p.Ile538=)
c.1758T= (n.1758T=)
c.932T= (p.Ile311=)
c.1448T= (p.Ile483=)
c.1157T= (p.Ile386=)
c.2319+20991A= (n.2319+20991A=)
c.992T= (p.Ile331=)
9g.95101771A>CCA374104464AOPEP,FANCCn.410+20991A>C
n.2428T>G
c.1613T>G (p.Ile538Ser)
c.1758T>G (n.1758T>G)
c.932T>G (p.Ile311Ser)
c.1448T>G (p.Ile483Ser)
c.1157T>G (p.Ile386Ser)
c.2319+20991A>C (n.2319+20991A>C)
c.992T>G (p.Ile331Ser)
9g.95101771A>GCA374104466AOPEP,FANCCn.410+20991A>G
n.2428T>C
c.1613T>C (p.Ile538Thr)
c.1758T>C (n.1758T>C)
c.932T>C (p.Ile311Thr)
c.1448T>C (p.Ile483Thr)
c.1157T>C (p.Ile386Thr)
c.2319+20991A>G (n.2319+20991A>G)
c.992T>C (p.Ile331Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.95101771A>TCA374104468AOPEP,FANCCn.410+20991A>T
n.2428T>A
c.1613T>A (p.Ile538Asn)
c.1758T>A (n.1758T>A)
c.932T>A (p.Ile311Asn)
c.1448T>A (p.Ile483Asn)
c.1157T>A (p.Ile386Asn)
c.2319+20991A>T (n.2319+20991A>T)
c.992T>A (p.Ile331Asn)
9g.95101772T>ACA374104476AOPEP,FANCCn.410+20992T>A
n.2427A>T
c.1612A>T (p.Ile538Phe)
c.1757A>T (n.1757A>T)
c.931A>T (p.Ile311Phe)
c.1447A>T (p.Ile483Phe)
c.1156A>T (p.Ile386Phe)
c.2319+20992T>A (n.2319+20992T>A)
c.991A>T (p.Ile331Phe)
9g.95101772T>CCA374104474AOPEP,FANCCn.410+20992T>C
n.2427A>G
c.1612A>G (p.Ile538Val)
c.1757A>G (n.1757A>G)
c.931A>G (p.Ile311Val)
c.1447A>G (p.Ile483Val)
c.1156A>G (p.Ile386Val)
c.2319+20992T>C (n.2319+20992T>C)
c.991A>G (p.Ile331Val)
 ClinVar
9g.95101772T>GCA374104471AOPEP,FANCCn.410+20992T>G
n.2427A>C
c.1612A>C (p.Ile538Leu)
c.1757A>C (n.1757A>C)
c.931A>C (p.Ile311Leu)
c.1447A>C (p.Ile483Leu)
c.1156A>C (p.Ile386Leu)
c.2319+20992T>G (n.2319+20992T>G)
c.991A>C (p.Ile331Leu)
9g.95101773G>ACA466092077AOPEP,FANCCn.410+20993G>A
n.2426C>T
c.1611C>T (p.Gly537=)
c.1756C>T (n.1756C>T)
c.930C>T (p.Gly310=)
c.1446C>T (p.Gly482=)
c.1155C>T (p.Gly385=)
c.2319+20993G>A (n.2319+20993G>A)
c.990C>T (p.Gly330=)
 dbSNP
9g.95101773G>CCA466092078AOPEP,FANCCn.410+20993G>C
n.2426C>G
c.1611C>G (p.Gly537=)
c.1756C>G (n.1756C>G)
c.930C>G (p.Gly310=)
c.1446C>G (p.Gly482=)
c.1155C>G (p.Gly385=)
c.2319+20993G>C (n.2319+20993G>C)
c.990C>G (p.Gly330=)
9g.95101773G=CA1865459539AOPEP,FANCCn.410+20993G=
n.2426C=
c.1611C= (p.Gly537=)
c.1756C= (n.1756C=)
c.930C= (p.Gly310=)
c.1446C= (p.Gly482=)
c.1155C= (p.Gly385=)
c.2319+20993G= (n.2319+20993G=)
c.990C= (p.Gly330=)
9g.95101773G>TCA196536712AOPEP,FANCCn.410+20993G>T
n.2426C>A
c.1611C>A (p.Gly537=)
c.1756C>A (n.1756C>A)
c.930C>A (p.Gly310=)
c.1446C>A (p.Gly482=)
c.1155C>A (p.Gly385=)
c.2319+20993G>T (n.2319+20993G>T)
c.990C>A (p.Gly330=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.95101774C>ACA5137291AOPEP,FANCCn.410+20994C>A
n.2425G>T
c.1610G>T (p.Gly537Val)
c.1755G>T (n.1755G>T)
c.929G>T (p.Gly310Val)
c.1445G>T (p.Gly482Val)
c.1154G>T (p.Gly385Val)
c.2319+20994C>A (n.2319+20994C>A)
c.989G>T (p.Gly330Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.95101774C=CA1865459540AOPEP,FANCCn.410+20994C=
n.2425G=
c.1610G= (p.Gly537=)
c.1755G= (n.1755G=)
c.929G= (p.Gly310=)
c.1445G= (p.Gly482=)
c.1154G= (p.Gly385=)
c.2319+20994C= (n.2319+20994C=)
c.989G= (p.Gly330=)
9g.95101774C>GCA374104481AOPEP,FANCCn.410+20994C>G
n.2425G>C
c.1610G>C (p.Gly537Ala)
c.1755G>C (n.1755G>C)
c.929G>C (p.Gly310Ala)
c.1445G>C (p.Gly482Ala)
c.1154G>C (p.Gly385Ala)
c.2319+20994C>G (n.2319+20994C>G)
c.989G>C (p.Gly330Ala)
9g.95101774C>TCA5137292AOPEP,FANCCn.410+20994C>T
n.2425G>A
c.1610G>A (p.Gly537Asp)
c.1755G>A (n.1755G>A)
c.929G>A (p.Gly310Asp)
c.1445G>A (p.Gly482Asp)
c.1154G>A (p.Gly385Asp)
c.2319+20994C>T (n.2319+20994C>T)
c.989G>A (p.Gly330Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched