Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.45947473_45947477dupCA1017930042PCIF1c.1883+35_1883+39dup (n.1883+35_1883+39dup)
c.774_778dup
c.839+35_839+39dup (n.839+35_839+39dup)
 dbSNP gnomAD v4
20g.45947473G>CCA2577413322PCIF1c.1883+35G>C (n.1883+35G>C)
c.774G>C
c.839+35G>C (n.839+35G>C)
20g.45947473G>TCA2653107360PCIF1c.1883+35G>T (n.1883+35G>T)
c.774G>T
c.839+35G>T (n.839+35G>T)
 gnomAD v4
20g.45947474C>TCA2653107361PCIF1c.1883+36C>T (n.1883+36C>T)
c.775C>T
c.839+36C>T (n.839+36C>T)
 gnomAD v4
20g.45947474dupCA2577413323PCIF1c.1883+36dup (n.1883+36dup)
c.775dup
c.839+36dup (n.839+36dup)
20g.45947475T>CCA2653107362PCIF1c.1883+37T>C (n.1883+37T>C)
c.776T>C
c.839+37T>C (n.839+37T>C)
 gnomAD v4
20g.45947475T=CA2366447758PCIF1c.1883+37T= (n.1883+37T=)
c.776T=
c.839+37T= (n.839+37T=)
20g.45947476G>ACA2653107363PCIF1c.1883+38G>A (n.1883+38G>A)
c.777G>A
c.839+38G>A (n.839+38G>A)
 gnomAD v4
20g.45947485_45947489dupCA636176161PCIF1c.1884-39_1884-35dup (n.1884-39_1884-35dup)
c.786_790dup
c.840-39_840-35dup (n.840-39_840-35dup)
 dbSNP gnomAD v2 gnomAD v4
20g.45947477G>ACA9884626PCIF1c.1883+39G>A (n.1883+39G>A)
c.778G>A
c.839+39G>A (n.839+39G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947477G>CCA636176162PCIF1c.1883+39G>C (n.1883+39G>C)
c.778G>C
c.839+39G>C (n.839+39G>C)
 dbSNP gnomAD v2 gnomAD v4
20g.45947477G=CA2366447759PCIF1c.1883+39G= (n.1883+39G=)
c.778G=
c.839+39G= (n.839+39G=)
20g.45947477G>TCA2653107364PCIF1c.1883+39G>T (n.1883+39G>T)
c.778G>T
c.839+39G>T (n.839+39G>T)
 gnomAD v4
20g.45947478C>ACA2577413324PCIF1c.1883+40C>A (n.1883+40C>A)
c.779C>A
c.839+40C>A (n.839+40C>A)
20g.45947478C=CA2366447760PCIF1c.1883+40C= (n.1883+40C=)
c.779C=
c.839+40C= (n.839+40C=)
20g.45947478C>GCA315640977PCIF1c.1883+40C>G (n.1883+40C>G)
c.779C>G
c.839+40C>G (n.839+40C>G)
 dbSNP gnomAD v4
20g.45947479C=CA2366447761PCIF1c.1883+41C= (n.1883+41C=)
c.780C=
c.839+41C= (n.839+41C=)
20g.45947479C>TCA2366447762PCIF1c.1883+41C>T (n.1883+41C>T)
c.780C>T
c.839+41C>T (n.839+41C>T)
 dbSNP gnomAD v4
20g.45947480A=CA2366447763PCIF1c.1883+42A= (n.1883+42A=)
c.781A=
c.839+42A= (n.839+42A=)
20g.45947480A>TCA315640985PCIF1c.1883+42A>T (n.1883+42A>T)
c.781A>T
c.839+42A>T (n.839+42A>T)
 dbSNP gnomAD v4
20g.45947481G>ACA2577413326PCIF1c.1884-43G>A (n.1884-43G>A)
c.782G>A
c.840-43G>A (n.840-43G>A)
 dbSNP gnomAD v4
20g.45947481G>CCA744844783PCIF1c.1884-43G>C (n.1884-43G>C)
c.782G>C
c.840-43G>C (n.840-43G>C)
 dbSNP
20g.45947481G=CA2366447764PCIF1c.1884-43G= (n.1884-43G=)
c.782G=
c.840-43G= (n.840-43G=)
20g.45947482_45947487delCA2577413325PCIF1c.1884-42_1884-37del (n.1884-42_1884-37del)
c.783_788del
c.840-42_840-37del (n.840-42_840-37del)
20g.45947482G>CCA2366447766PCIF1c.1884-42G>C (n.1884-42G>C)
c.783G>C
c.840-42G>C (n.840-42G>C)
 dbSNP
20g.45947482G=CA2366447765PCIF1c.1884-42G= (n.1884-42G=)
c.783G=
c.840-42G= (n.840-42G=)
20g.45947483C=CA2366447767PCIF1c.1884-41C= (n.1884-41C=)
c.784C=
c.840-41C= (n.840-41C=)
20g.45947483C>TCA9884627PCIF1c.1884-41C>T (n.1884-41C>T)
c.784C>T
c.840-41C>T (n.840-41C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947484C>TCA2577413327PCIF1c.1884-40C>T (n.1884-40C>T)
c.785C>T
c.840-40C>T (n.840-40C>T)
20g.45947485A=CA2366447768PCIF1c.1884-39A= (n.1884-39A=)
c.786A=
c.840-39A= (n.840-39A=)
20g.45947485A>GCA2366447769PCIF1c.1884-39A>G (n.1884-39A>G)
c.786A>G
c.840-39A>G (n.840-39A>G)
 dbSNP
20g.45947486G>ACA636176163PCIF1c.1884-38G>A (n.1884-38G>A)
c.787G>A
c.840-38G>A (n.840-38G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.45947486G>CCA744844792PCIF1c.1884-38G>C (n.1884-38G>C)
c.787G>C
c.840-38G>C (n.840-38G>C)
 dbSNP gnomAD v3 gnomAD v4
20g.45947486G=CA2366447770PCIF1c.1884-38G= (n.1884-38G=)
c.787G=
c.840-38G= (n.840-38G=)
20g.45947487delCA2577413328PCIF1c.1884-37del (n.1884-37del)
c.788del
c.840-37del (n.840-37del)
20g.45947486_45947490dupCA9884628PCIF1c.1884-38_1884-34dup (n.1884-38_1884-34dup)
c.787_791dup
c.840-38_840-34dup (n.840-38_840-34dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947487G>CCA9884629PCIF1c.1884-37G>C (n.1884-37G>C)
c.788G>C
c.840-37G>C (n.840-37G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947487G=CA2366447771PCIF1c.1884-37G= (n.1884-37G=)
c.788G=
c.840-37G= (n.840-37G=)
20g.45947487G>TCA9884630PCIF1c.1884-37G>T (n.1884-37G>T)
c.788G>T
c.840-37G>T (n.840-37G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947488C>TCA2653107365PCIF1c.1884-36C>T (n.1884-36C>T)
c.789C>T
c.840-36C>T (n.840-36C>T)
 gnomAD v4
20g.45947489C=CA2366447772PCIF1c.1884-35C= (n.1884-35C=)
c.790C=
c.840-35C= (n.840-35C=)
20g.45947489C>GCA2366447773PCIF1c.1884-35C>G (n.1884-35C>G)
c.790C>G
c.840-35C>G (n.840-35C>G)
 dbSNP gnomAD v4
20g.45947490C>ACA2577413329PCIF1c.1884-34C>A (n.1884-34C>A)
c.791C>A
c.840-34C>A (n.840-34C>A)
20g.45947490C>TCA2653107366PCIF1c.1884-34C>T (n.1884-34C>T)
c.791C>T
c.840-34C>T (n.840-34C>T)
 gnomAD v4
20g.45947491A=CA2366447774PCIF1c.1884-33A= (n.1884-33A=)
c.792A=
c.840-33A= (n.840-33A=)
20g.45947491A>GCA9884631PCIF1c.1884-33A>G (n.1884-33A>G)
c.792A>G
c.840-33A>G (n.840-33A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947493C>TCA2653107368PCIF1c.1884-31C>T (n.1884-31C>T)
c.794C>T
c.840-31C>T (n.840-31C>T)
 gnomAD v4
20g.45947495_45947500dupCA2653107367PCIF1c.1884-29_1884-24dup (n.1884-29_1884-24dup)
c.796_801dup
c.840-29_840-24dup (n.840-29_840-24dup)
 gnomAD v4
20g.45947495C>TCA2577413330PCIF1c.1884-29C>T (n.1884-29C>T)
c.796C>T
c.840-29C>T (n.840-29C>T)
20g.45947496C>ACA636176164PCIF1c.1884-28C>A (n.1884-28C>A)
c.797C>A
c.840-28C>A (n.840-28C>A)
 dbSNP gnomAD v2 gnomAD v4
20g.45947496C=CA2366447775PCIF1c.1884-28C= (n.1884-28C=)
c.797C=
c.840-28C= (n.840-28C=)
20g.45947496C>TCA2653107369PCIF1c.1884-28C>T (n.1884-28C>T)
c.797C>T
c.840-28C>T (n.840-28C>T)
 gnomAD v4
20g.45947497A=CA2366447776PCIF1c.1884-27A= (n.1884-27A=)
c.798A=
c.840-27A= (n.840-27A=)
20g.45947497A>CCA2366447777PCIF1c.1884-27A>C (n.1884-27A>C)
c.798A>C
c.840-27A>C (n.840-27A>C)
 dbSNP
20g.45947498C>ACA2366447779PCIF1c.1884-26C>A (n.1884-26C>A)
c.799C>A
c.840-26C>A (n.840-26C>A)
 dbSNP
20g.45947498C=CA2366447778PCIF1c.1884-26C= (n.1884-26C=)
c.799C=
c.840-26C= (n.840-26C=)
20g.45947498C>TCA1017930055PCIF1c.1884-26C>T (n.1884-26C>T)
c.799C>T
c.840-26C>T (n.840-26C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.45947499C>ACA2653107370PCIF1c.1884-25C>A (n.1884-25C>A)
c.800C>A
c.840-25C>A (n.840-25C>A)
 gnomAD v4
20g.45947499C=CA2366447780PCIF1c.1884-25C= (n.1884-25C=)
c.800C=
c.840-25C= (n.840-25C=)
20g.45947499C>TCA9884632PCIF1c.1884-25C>T (n.1884-25C>T)
c.800C>T
c.840-25C>T (n.840-25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947499_45947501delinsCCTCA2366447781PCIF1c.1884-25_1884-23delinsCCT (n.1884-25_1884-23delinsCCT)
c.800_802delinsCCT
c.840-25_840-23delinsCCT (n.840-25_840-23delinsCCT)
20g.45947500C=CA2366447782PCIF1c.1884-24C= (n.1884-24C=)
c.801C=
c.840-24C= (n.840-24C=)
20g.45947500C>GCA1017930061PCIF1c.1884-24C>G (n.1884-24C>G)
c.801C>G
c.840-24C>G (n.840-24C>G)
 dbSNP gnomAD v3 gnomAD v4
20g.45947500_45947501delCA636176165PCIF1c.1884-24_1884-23del (n.1884-24_1884-23del)
c.801_802del
c.840-24_840-23del (n.840-24_840-23del)
 dbSNP gnomAD v2 gnomAD v4
20g.45947501T>CCA315641005PCIF1c.1884-23T>C (n.1884-23T>C)
c.802T>C
c.840-23T>C (n.840-23T>C)
 dbSNP
20g.45947501T>GCA2577413331PCIF1c.1884-23T>G (n.1884-23T>G)
c.802T>G
c.840-23T>G (n.840-23T>G)
20g.45947501T=CA2366447783PCIF1c.1884-23T= (n.1884-23T=)
c.802T=
c.840-23T= (n.840-23T=)
20g.45947504G>ACA9884633PCIF1c.1884-20G>A (n.1884-20G>A)
c.805G>A
c.840-20G>A (n.840-20G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947504G=CA2366447784PCIF1c.1884-20G= (n.1884-20G=)
c.805G=
c.840-20G= (n.840-20G=)
20g.45947504G>TCA1017930068PCIF1c.1884-20G>T (n.1884-20G>T)
c.805G>T
c.840-20G>T (n.840-20G>T)
 dbSNP gnomAD v3 gnomAD v4
20g.45947507A>GCA2577413332PCIF1c.1884-17A>G (n.1884-17A>G)
c.808A>G
c.840-17A>G (n.840-17A>G)
 gnomAD v4
20g.45947508T>CCA9884634PCIF1c.1884-16T>C (n.1884-16T>C)
c.809T>C
c.840-16T>C (n.840-16T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947508T=CA2366447785PCIF1c.1884-16T= (n.1884-16T=)
c.809T=
c.840-16T= (n.840-16T=)
20g.45947511C>ACA9884635PCIF1c.1884-13C>A (n.1884-13C>A)
c.812C>A
c.840-13C>A (n.840-13C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947511C=CA2366447786PCIF1c.1884-13C= (n.1884-13C=)
c.812C=
c.840-13C= (n.840-13C=)
20g.45947511C>TCA2653107371PCIF1c.1884-13C>T (n.1884-13C>T)
c.812C>T
c.840-13C>T (n.840-13C>T)
 gnomAD v4
20g.45947512C>ACA9884636PCIF1c.1884-12C>A (n.1884-12C>A)
c.813C>A
c.840-12C>A (n.840-12C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947512C=CA2366447787PCIF1c.1884-12C= (n.1884-12C=)
c.813C=
c.840-12C= (n.840-12C=)
20g.45947512C>TCA2366447788PCIF1c.1884-12C>T (n.1884-12C>T)
c.813C>T
c.840-12C>T (n.840-12C>T)
 dbSNP gnomAD v4
20g.45947514T>GCA2653107373PCIF1c.1884-10T>G (n.1884-10T>G)
c.815T>G
c.840-10T>G (n.840-10T>G)
 gnomAD v4
20g.45947516G>TCA2653107374PCIF1c.1884-8G>T (n.1884-8G>T)
c.817G>T
c.840-8G>T (n.840-8G>T)
 gnomAD v4
20g.45947519C=CA2366447789PCIF1c.1884-5C= (n.1884-5C=)
c.820C=
c.840-5C= (n.840-5C=)
20g.45947519C>TCA9884637PCIF1c.1884-5C>T (n.1884-5C>T)
c.820C>T
c.840-5C>T (n.840-5C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947520G>ACA9884638PCIF1c.1884-4G>A (n.1884-4G>A)
c.821G>A
c.840-4G>A (n.840-4G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947520G=CA2366447790PCIF1c.1884-4G= (n.1884-4G=)
c.821G=
c.840-4G= (n.840-4G=)
20g.45947522A>CCA409231091PCIF1c.1884-2A>C (n.1884-2A>C)
c.823A>C
c.840-2A>C (n.840-2A>C)
20g.45947522A>GCA409231093PCIF1c.1884-2A>G (n.1884-2A>G)
c.823A>G
c.840-2A>G (n.840-2A>G)
20g.45947522A>TCA409231095PCIF1c.1884-2A>T (n.1884-2A>T)
c.823A>T
c.840-2A>T (n.840-2A>T)
20g.45947523G>ACA409231101PCIF1c.1884-1G>A (n.1884-1G>A)
c.824G>A
c.840-1G>A (n.840-1G>A)
20g.45947523G>CCA409231097PCIF1c.1884-1G>C (n.1884-1G>C)
c.824G>C
c.840-1G>C (n.840-1G>C)
20g.45947523G>TCA409231099PCIF1c.1884-1G>T (n.1884-1G>T)
c.824G>T
c.840-1G>T (n.840-1G>T)
20g.45947524G>ACA510753577PCIF1c.1884G>A (p.Lys628=)
c.825G>A
c.840G>A (p.Lys280=)
 gnomAD v4
20g.45947524G>CCA409231104PCIF1c.1884G>C (p.Lys628Asn)
c.825G>C
c.840G>C (p.Lys280Asn)
20g.45947524G>TCA409231105PCIF1c.1884G>T (p.Lys628Asn)
c.825G>T
c.840G>T (p.Lys280Asn)
20g.45947525G>ACA409231107PCIF1c.1885G>A (p.Glu629Lys)
c.826G>A
c.841G>A (p.Glu281Lys)
20g.45947525G>CCA409231109PCIF1c.1885G>C (p.Glu629Gln)
c.826G>C
c.841G>C (p.Glu281Gln)
20g.45947525G>TCA409231112PCIF1c.1885G>T (p.Glu629Ter)
c.826G>T
c.841G>T (p.Glu281Ter)
20g.45947526A>CCA409231118PCIF1c.1886A>C (p.Glu629Ala)
c.827A>C
c.842A>C (p.Glu281Ala)
20g.45947526A>GCA409231115PCIF1c.1886A>G (p.Glu629Gly)
c.827A>G
c.842A>G (p.Glu281Gly)
20g.45947526A>TCA409231116PCIF1c.1886A>T (p.Glu629Val)
c.827A>T
c.842A>T (p.Glu281Val)
20g.45947527G>ACA510753578PCIF1c.1887G>A (p.Glu629=)
c.828G>A
c.843G>A (p.Glu281=)
20g.45947527G>CCA409231121PCIF1c.1887G>C (p.Glu629Asp)
c.828G>C
c.843G>C (p.Glu281Asp)
20g.45947527G>TCA409231122PCIF1c.1887G>T (p.Glu629Asp)
c.828G>T
c.843G>T (p.Glu281Asp)
20g.45947528G>ACA409231125PCIF1c.1888G>A (p.Glu630Lys)
c.829G>A
c.844G>A (p.Glu282Lys)
20g.45947528G>CCA409231126PCIF1c.1888G>C (p.Glu630Gln)
c.829G>C
c.844G>C (p.Glu282Gln)
20g.45947528G>TCA409231128PCIF1c.1888G>T (p.Glu630Ter)
c.829G>T
c.844G>T (p.Glu282Ter)
20g.45947529A>CCA409231131PCIF1c.1889A>C (p.Glu630Ala)
c.830A>C
c.845A>C (p.Glu282Ala)
20g.45947529A>GCA409231132PCIF1c.1889A>G (p.Glu630Gly)
c.830A>G
c.845A>G (p.Glu282Gly)
20g.45947529A>TCA409231133PCIF1c.1889A>T (p.Glu630Val)
c.830A>T
c.845A>T (p.Glu282Val)
20g.45947530A>CCA409231134PCIF1c.1890A>C (p.Glu630Asp)
c.831A>C
c.846A>C (p.Glu282Asp)
20g.45947530A>GCA510753581PCIF1c.1890A>G (p.Glu630=)
c.831A>G
c.846A>G (p.Glu282=)
20g.45947530A>TCA409231135PCIF1c.1890A>T (p.Glu630Asp)
c.831A>T
c.846A>T (p.Glu282Asp)
20g.45947531A>CCA409231136PCIF1c.1891A>C (p.Met631Leu)
c.832A>C
c.847A>C (p.Met283Leu)
20g.45947531A>GCA409231137PCIF1c.1891A>G (p.Met631Val)
c.832A>G
c.847A>G (p.Met283Val)
20g.45947531A>TCA409231138PCIF1c.1891A>T (p.Met631Leu)
c.832A>T
c.847A>T (p.Met283Leu)
20g.45947532T>ACA409231139PCIF1c.1892T>A (p.Met631Lys)
c.833T>A
c.848T>A (p.Met283Lys)
20g.45947532T>CCA409231141PCIF1c.1892T>C (p.Met631Thr)
c.833T>C
c.848T>C (p.Met283Thr)
20g.45947532T>GCA409231140PCIF1c.1892T>G (p.Met631Arg)
c.833T>G
c.848T>G (p.Met283Arg)
20g.45947533G>ACA409231142PCIF1c.1893G>A (p.Met631Ile)
c.834G>A
c.849G>A (p.Met283Ile)
 dbSNP gnomAD v4
20g.45947533G>CCA409231143PCIF1c.1893G>C (p.Met631Ile)
c.834G>C
c.849G>C (p.Met283Ile)
20g.45947533G=CA2366447791PCIF1c.1893G= (p.Met631=)
c.834G=
c.849G= (p.Met283=)
20g.45947533G>TCA409231144PCIF1c.1893G>T (p.Met631Ile)
c.834G>T
c.849G>T (p.Met283Ile)
20g.45947534C>ACA409231145PCIF1c.1894C>A (p.His632Asn)
c.835C>A
c.850C>A (p.His284Asn)
20g.45947534C=CA2366447792PCIF1c.1894C= (p.His632=)
c.835C=
c.850C= (p.His284=)
20g.45947534C>GCA409231146PCIF1c.1894C>G (p.His632Asp)
c.835C>G
c.850C>G (p.His284Asp)
20g.45947534C>TCA409231147PCIF1c.1894C>T (p.His632Tyr)
c.835C>T
c.850C>T (p.His284Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.45947535A=CA2366447793PCIF1c.1895A= (p.His632=)
c.836A=
c.851A= (p.His284=)
20g.45947535A>CCA409231148PCIF1c.1895A>C (p.His632Pro)
c.836A>C
c.851A>C (p.His284Pro)
20g.45947535A>GCA409231149PCIF1c.1895A>G (p.His632Arg)
c.836A>G
c.851A>G (p.His284Arg)
 dbSNP
20g.45947535A>TCA409231150PCIF1c.1895A>T (p.His632Leu)
c.836A>T
c.851A>T (p.His284Leu)
20g.45947536C>ACA409231151PCIF1c.1896C>A (p.His632Gln)
c.837C>A
c.852C>A (p.His284Gln)
20g.45947536C=CA2366447794PCIF1c.1896C= (p.His632=)
c.837C=
c.852C= (p.His284=)
20g.45947536C>GCA409231152PCIF1c.1896C>G (p.His632Gln)
c.837C>G
c.852C>G (p.His284Gln)
20g.45947536C>TCA315641017PCIF1c.1896C>T (p.His632=)
c.837C>T
c.852C>T (p.His284=)
 dbSNP
20g.45947537T>ACA409231155PCIF1c.1897T>A (p.Tyr633Asn)
c.838T>A
c.853T>A (p.Tyr285Asn)
20g.45947537T>CCA409231154PCIF1c.1897T>C (p.Tyr633His)
c.838T>C
c.853T>C (p.Tyr285His)
 dbSNP
20g.45947537T>GCA409231153PCIF1c.1897T>G (p.Tyr633Asp)
c.838T>G
c.853T>G (p.Tyr285Asp)
20g.45947537T=CA2366447795PCIF1c.1897T= (p.Tyr633=)
c.838T=
c.853T= (p.Tyr285=)
20g.45947538A=CA2366447796PCIF1c.1898A= (p.Tyr633=)
c.839A=
c.854A= (p.Tyr285=)
20g.45947538A>CCA409231156PCIF1c.1898A>C (p.Tyr633Ser)
c.839A>C
c.854A>C (p.Tyr285Ser)
 dbSNP
20g.45947538A>GCA409231157PCIF1c.1898A>G (p.Tyr633Cys)
c.839A>G
c.854A>G (p.Tyr285Cys)
20g.45947538A>TCA409231158PCIF1c.1898A>T (p.Tyr633Phe)
c.839A>T
c.854A>T (p.Tyr285Phe)
20g.45947539C>ACA409231159PCIF1c.1899C>A (p.Tyr633Ter)
c.840C>A
c.855C>A (p.Tyr285Ter)
20g.45947539C>GCA409231160PCIF1c.1899C>G (p.Tyr633Ter)
c.840C>G
c.855C>G (p.Tyr285Ter)
20g.45947539C>TCA510753585PCIF1c.1899C>T (p.Tyr633=)
c.840C>T
c.855C>T (p.Tyr285=)
20g.45947540A>CCA409231161PCIF1c.1900A>C (p.Lys634Gln)
c.841A>C
c.856A>C (p.Lys286Gln)
20g.45947540A>GCA409231162PCIF1c.1900A>G (p.Lys634Glu)
c.841A>G
c.856A>G (p.Lys286Glu)
 gnomAD v4
20g.45947540A>TCA409231163PCIF1c.1900A>T (p.Lys634Ter)
c.841A>T
c.856A>T (p.Lys286Ter)
20g.45947541A>CCA409231164PCIF1c.1901A>C (p.Lys634Thr)
c.842A>C
c.857A>C (p.Lys286Thr)
20g.45947541A>GCA409231165PCIF1c.1901A>G (p.Lys634Arg)
c.842A>G
c.857A>G (p.Lys286Arg)
20g.45947541A>TCA409231166PCIF1c.1901A>T (p.Lys634Met)
c.842A>T
c.857A>T (p.Lys286Met)
20g.45947542G>ACA510753587PCIF1c.1902G>A (p.Lys634=)
c.843G>A
c.858G>A (p.Lys286=)
 gnomAD v4
20g.45947542G>CCA409231167PCIF1c.1902G>C (p.Lys634Asn)
c.843G>C
c.858G>C (p.Lys286Asn)
20g.45947542G>TCA409231168PCIF1c.1902G>T (p.Lys634Asn)
c.843G>T
c.858G>T (p.Lys286Asn)
20g.45947543G>ACA409231171PCIF1c.1903G>A (p.Ala635Thr)
c.844G>A
c.859G>A (p.Ala287Thr)
20g.45947543G>CCA409231170PCIF1c.1903G>C (p.Ala635Pro)
c.844G>C
c.859G>C (p.Ala287Pro)
20g.45947543G>TCA409231169PCIF1c.1903G>T (p.Ala635Ser)
c.844G>T
c.859G>T (p.Ala287Ser)
20g.45947544C>ACA409231173PCIF1c.1904C>A (p.Ala635Asp)
c.845C>A
c.860C>A (p.Ala287Asp)
20g.45947544C>GCA409231172PCIF1c.1904C>G (p.Ala635Gly)
c.845C>G
c.860C>G (p.Ala287Gly)
 gnomAD v4
20g.45947544C>TCA409231174PCIF1c.1904C>T (p.Ala635Val)
c.845C>T
c.860C>T (p.Ala287Val)
20g.45947545C>ACA510753588PCIF1c.1905C>A (p.Ala635=)
c.846C>A
c.861C>A (p.Ala287=)
20g.45947545C=CA2366447797PCIF1c.1905C= (p.Ala635=)
c.846C=
c.861C= (p.Ala287=)
20g.45947545C>GCA510753589PCIF1c.1905C>G (p.Ala635=)
c.846C>G
c.861C>G (p.Ala287=)
20g.45947545C>TCA9884639PCIF1c.1905C>T (p.Ala635=)
c.846C>T
c.861C>T (p.Ala287=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947546G>ACA9884640PCIF1c.1906G>A (p.Val636Ile)
c.847G>A
c.862G>A (p.Val288Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947546G>CCA409231175PCIF1c.1906G>C (p.Val636Leu)
c.847G>C
c.862G>C (p.Val288Leu)
20g.45947546G=CA2366447798PCIF1c.1906G= (p.Val636=)
c.847G=
c.862G= (p.Val288=)
20g.45947546G>TCA409231176PCIF1c.1906G>T (p.Val636Phe)
c.847G>T
c.862G>T (p.Val288Phe)
 dbSNP
20g.45947547T>ACA409231177PCIF1c.1907T>A (p.Val636Asp)
c.848T>A
c.863T>A (p.Val288Asp)
20g.45947547T>CCA409231178PCIF1c.1907T>C (p.Val636Ala)
c.848T>C
c.863T>C (p.Val288Ala)
20g.45947547T>GCA409231179PCIF1c.1907T>G (p.Val636Gly)
c.848T>G
c.863T>G (p.Val288Gly)
20g.45947548C>ACA510753590PCIF1c.1908C>A (p.Val636=)
c.849C>A
c.864C>A (p.Val288=)
20g.45947548C=CA2366447799PCIF1c.1908C= (p.Val636=)
c.849C=
c.864C= (p.Val288=)
20g.45947548C>GCA510753591PCIF1c.1908C>G (p.Val636=)
c.849C>G
c.864C>G (p.Val288=)
 COSMIC
20g.45947548C>TCA510753592PCIF1c.1908C>T (p.Val636=)
c.849C>T
c.864C>T (p.Val288=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.45947549C>ACA409231180PCIF1c.1909C>A (p.His637Asn)
c.850C>A
c.865C>A (p.His289Asn)
20g.45947549C>GCA409231181PCIF1c.1909C>G (p.His637Asp)
c.850C>G
c.865C>G (p.His289Asp)
20g.45947549C>TCA409231182PCIF1c.1909C>T (p.His637Tyr)
c.850C>T
c.865C>T (p.His289Tyr)
 gnomAD v4
20g.45947550A>CCA409231183PCIF1c.1910A>C (p.His637Pro)
c.851A>C
c.866A>C (p.His289Pro)
20g.45947550A>GCA409231184PCIF1c.1910A>G (p.His637Arg)
c.851A>G
c.866A>G (p.His289Arg)
20g.45947550A>TCA409231185PCIF1c.1910A>T (p.His637Leu)
c.851A>T
c.866A>T (p.His289Leu)
20g.45947551C>ACA409231186PCIF1c.1911C>A (p.His637Gln)
c.852C>A
c.867C>A (p.His289Gln)
20g.45947551C>GCA409231187PCIF1c.1911C>G (p.His637Gln)
c.852C>G
c.867C>G (p.His289Gln)
20g.45947551C>TCA510753593PCIF1c.1911C>T (p.His637=)
c.852C>T
c.867C>T (p.His289=)
 gnomAD v4
20g.45947552A=CA2366447800PCIF1c.1912A= (p.Asn638=)
c.853A=
c.868A= (p.Asn290=)
20g.45947552A>CCA409231188PCIF1c.1912A>C (p.Asn638His)
c.853A>C
c.868A>C (p.Asn290His)
20g.45947552A>GCA9884641PCIF1c.1912A>G (p.Asn638Asp)
c.853A>G
c.868A>G (p.Asn290Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947552A>TCA409231189PCIF1c.1912A>T (p.Asn638Tyr)
c.853A>T
c.868A>T (p.Asn290Tyr)
20g.45947553A=CA2366447801PCIF1c.1913A= (p.Asn638=)
c.854A=
c.869A= (p.Asn290=)
20g.45947553A>CCA409231190PCIF1c.1913A>C (p.Asn638Thr)
c.854A>C
c.869A>C (p.Asn290Thr)
20g.45947553A>GCA9884642PCIF1c.1913A>G (p.Asn638Ser)
c.854A>G
c.869A>G (p.Asn290Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947553A>TCA409231191PCIF1c.1913A>T (p.Asn638Ile)
c.854A>T
c.869A>T (p.Asn290Ile)
20g.45947554C>ACA409231192PCIF1c.1914C>A (p.Asn638Lys)
c.855C>A
c.870C>A (p.Asn290Lys)
20g.45947554C>GCA409231193PCIF1c.1914C>G (p.Asn638Lys)
c.855C>G
c.870C>G (p.Asn290Lys)
20g.45947554C>TCA510753594PCIF1c.1914C>T (p.Asn638=)
c.855C>T
c.870C>T (p.Asn290=)
20g.45947555A>CCA409231194PCIF1c.1915A>C (p.Thr639Pro)
c.856A>C
c.871A>C (p.Thr291Pro)
20g.45947555A>GCA409231195PCIF1c.1915A>G (p.Thr639Ala)
c.856A>G
c.871A>G (p.Thr291Ala)
20g.45947555A>TCA409231196PCIF1c.1915A>T (p.Thr639Ser)
c.856A>T
c.871A>T (p.Thr291Ser)
20g.45947556C>ACA409231197PCIF1c.1916C>A (p.Thr639Lys)
c.857C>A
c.872C>A (p.Thr291Lys)
20g.45947556C=CA2366447802PCIF1c.1916C= (p.Thr639=)
c.857C=
c.872C= (p.Thr291=)
20g.45947556C>GCA409231198PCIF1c.1916C>G (p.Thr639Arg)
c.857C>G
c.872C>G (p.Thr291Arg)
20g.45947556C>TCA315641031PCIF1c.1916C>T (p.Thr639Met)
c.857C>T
c.872C>T (p.Thr291Met)
 dbSNP gnomAD v4
20g.45947557G>ACA315641041PCIF1c.1917G>A (p.Thr639=)
c.858G>A
c.873G>A (p.Thr291=)
 dbSNP gnomAD v2 gnomAD v4
20g.45947557G>CCA510753596PCIF1c.1917G>C (p.Thr639=)
c.858G>C
c.873G>C (p.Thr291=)
 gnomAD v4
20g.45947557G=CA2366447803PCIF1c.1917G= (p.Thr639=)
c.858G=
c.873G= (p.Thr291=)
20g.45947557G>TCA510753595PCIF1c.1917G>T (p.Thr639=)
c.858G>T
c.873G>T (p.Thr291=)
 gnomAD v4
20g.45947558G>ACA409231200PCIF1c.1918G>A (p.Ala640Thr)
c.859G>A
c.874G>A (p.Ala292Thr)
20g.45947558G>CCA9884643PCIF1c.1918G>C (p.Ala640Pro)
c.859G>C
c.874G>C (p.Ala292Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947558G=CA2366447804PCIF1c.1918G= (p.Ala640=)
c.859G=
c.874G= (p.Ala292=)
20g.45947558G>TCA409231199PCIF1c.1918G>T (p.Ala640Ser)
c.859G>T
c.874G>T (p.Ala292Ser)
20g.45947559C>ACA409231201PCIF1c.1919C>A (p.Ala640Asp)
c.860C>A
c.875C>A (p.Ala292Asp)
20g.45947559C>GCA409231202PCIF1c.1919C>G (p.Ala640Gly)
c.860C>G
c.875C>G (p.Ala292Gly)
20g.45947559C>TCA409231203PCIF1c.1919C>T (p.Ala640Val)
c.860C>T
c.875C>T (p.Ala292Val)
20g.45947560T>ACA510753597PCIF1c.1920T>A (p.Ala640=)
c.861T>A
c.876T>A (p.Ala292=)
20g.45947560T>CCA9884644PCIF1c.1920T>C (p.Ala640=)
c.861T>C
c.876T>C (p.Ala292=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
20g.45947560T>GCA510753598PCIF1c.1920T>G (p.Ala640=)
c.861T>G
c.876T>G (p.Ala292=)
20g.45947560T=CA2366447805PCIF1c.1920T= (p.Ala640=)
c.861T=
c.876T= (p.Ala292=)
20g.45947561G>ACA409231204PCIF1c.1921G>A (p.Val641Met)
c.862G>A
c.877G>A (p.Val293Met)
20g.45947561G>CCA409231205PCIF1c.1921G>C (p.Val641Leu)
c.862G>C
c.877G>C (p.Val293Leu)
20g.45947561G>TCA409231206PCIF1c.1921G>T (p.Val641Leu)
c.862G>T
c.877G>T (p.Val293Leu)
20g.45947562T>ACA409231207PCIF1c.1922T>A (p.Val641Glu)
c.863T>A
c.878T>A (p.Val293Glu)
20g.45947562T>CCA409231208PCIF1c.1922T>C (p.Val641Ala)
c.863T>C
c.878T>C (p.Val293Ala)
20g.45947562T>GCA9884645PCIF1c.1922T>G (p.Val641Gly)
c.863T>G
c.878T>G (p.Val293Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947562T=CA2366447806PCIF1c.1922T= (p.Val641=)
c.863T=
c.878T= (p.Val293=)
20g.45947563G>ACA510753599PCIF1c.1923G>A (p.Val641=)
c.864G>A
c.879G>A (p.Val293=)
20g.45947563G>CCA510753601PCIF1c.1923G>C (p.Val641=)
c.864G>C
c.879G>C (p.Val293=)
 gnomAD v4
20g.45947563G>TCA510753600PCIF1c.1923G>T (p.Val641=)
c.864G>T
c.879G>T (p.Val293=)
20g.45947564C>ACA409231210PCIF1c.1924C>A (p.Leu642Ile)
c.865C>A
c.880C>A (p.Leu294Ile)
20g.45947564C=CA2366447807PCIF1c.1924C= (p.Leu642=)
c.865C=
c.880C= (p.Leu294=)
20g.45947564C>GCA9884646PCIF1c.1924C>G (p.Leu642Val)
c.865C>G
c.880C>G (p.Leu294Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947564C>TCA409231209PCIF1c.1924C>T (p.Leu642Phe)
c.865C>T
c.880C>T (p.Leu294Phe)
 gnomAD v4
20g.45947565T>ACA409231211PCIF1c.1925T>A (p.Leu642His)
c.866T>A
c.881T>A (p.Leu294His)
20g.45947565T>CCA409231212PCIF1c.1925T>C (p.Leu642Pro)
c.866T>C
c.881T>C (p.Leu294Pro)
20g.45947565T>GCA409231213PCIF1c.1925T>G (p.Leu642Arg)
c.866T>G
c.881T>G (p.Leu294Arg)
20g.45947566C>ACA510753602PCIF1c.1926C>A (p.Leu642=)
c.867C>A
c.882C>A (p.Leu294=)
20g.45947566C=CA2366447808PCIF1c.1926C= (p.Leu642=)
c.867C=
c.882C= (p.Leu294=)
20g.45947566C>GCA510753604PCIF1c.1926C>G (p.Leu642=)
c.867C>G
c.882C>G (p.Leu294=)
 dbSNP
20g.45947566C>TCA510753603PCIF1c.1926C>T (p.Leu642=)
c.867C>T
c.882C>T (p.Leu294=)
20g.45947567T>ACA409231214PCIF1c.1927T>A (p.Phe643Ile)
c.868T>A
c.883T>A (p.Phe295Ile)
20g.45947567T>CCA409231215PCIF1c.1927T>C (p.Phe643Leu)
c.868T>C
c.883T>C (p.Phe295Leu)
20g.45947567T>GCA409231216PCIF1c.1927T>G (p.Phe643Val)
c.868T>G
c.883T>G (p.Phe295Val)
20g.45947568T>ACA409231217PCIF1c.1928T>A (p.Phe643Tyr)
c.869T>A
c.884T>A (p.Phe295Tyr)
20g.45947568T>CCA409231218PCIF1c.1928T>C (p.Phe643Ser)
c.869T>C
c.884T>C (p.Phe295Ser)
20g.45947568T>GCA409231219PCIF1c.1928T>G (p.Phe643Cys)
c.869T>G
c.884T>G (p.Phe295Cys)
20g.45947569C>ACA409231220PCIF1c.1929C>A (p.Phe643Leu)
c.870C>A
c.885C>A (p.Phe295Leu)
20g.45947569C>GCA409231221PCIF1c.1929C>G (p.Phe643Leu)
c.870C>G
c.885C>G (p.Phe295Leu)
20g.45947569C>TCA510753605PCIF1c.1929C>T (p.Phe643=)
c.870C>T
c.885C>T (p.Phe295=)
 dbSNP
20g.45947570C>ACA409231222PCIF1c.1930C>A (p.Leu644Ile)
c.871C>A
c.886C>A (p.Leu296Ile)
20g.45947570C=CA2366447809PCIF1c.1930C= (p.Leu644=)
c.871C=
c.886C= (p.Leu296=)
20g.45947570C>GCA409231223PCIF1c.1930C>G (p.Leu644Val)
c.871C>G
c.886C>G (p.Leu296Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.45947570C>TCA510753606PCIF1c.1930C>T (p.Leu644=)
c.871C>T
c.886C>T (p.Leu296=)
 dbSNP gnomAD v4
20g.45947571T>ACA409231226PCIF1c.1931T>A (p.Leu644Gln)
c.872T>A
c.887T>A (p.Leu296Gln)
20g.45947571T>CCA409231225PCIF1c.1931T>C (p.Leu644Pro)
c.872T>C
c.887T>C (p.Leu296Pro)
20g.45947571T>GCA409231224PCIF1c.1931T>G (p.Leu644Arg)
c.872T>G
c.887T>G (p.Leu296Arg)
20g.45947572A>CCA510753607PCIF1c.1932A>C (p.Leu644=)
c.873A>C
c.888A>C (p.Leu296=)
 gnomAD v4
20g.45947572A>GCA510753608PCIF1c.1932A>G (p.Leu644=)
c.873A>G
c.888A>G (p.Leu296=)
20g.45947572A>TCA510753609PCIF1c.1932A>T (p.Leu644=)
c.873A>T
c.888A>T (p.Leu296=)
20g.45947573C>ACA409231228PCIF1c.1933C>A (p.Gln645Lys)
c.874C>A
c.889C>A (p.Gln297Lys)
20g.45947573C>GCA409231227PCIF1c.1933C>G (p.Gln645Glu)
c.874C>G
c.889C>G (p.Gln297Glu)
20g.45947573C>TCA409231229PCIF1c.1933C>T (p.Gln645Ter)
c.874C>T
c.889C>T (p.Gln297Ter)

Number of alleles fetched