Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.45947391T>ACA510753555PCIF1c.1836T>A (p.Pro612=)
c.692T>A
c.792T>A (p.Pro264=)
20g.45947391T>CCA510753556PCIF1c.1836T>C (p.Pro612=)
c.692T>C
c.792T>C (p.Pro264=)
20g.45947391T>GCA510753557PCIF1c.1836T>G (p.Pro612=)
c.692T>G
c.792T>G (p.Pro264=)
20g.45947392G>ACA409230841PCIF1c.1837G>A (p.Ala613Thr)
c.693G>A
c.793G>A (p.Ala265Thr)
20g.45947392G>CCA409230839PCIF1c.1837G>C (p.Ala613Pro)
c.693G>C
c.793G>C (p.Ala265Pro)
20g.45947392G>TCA409230837PCIF1c.1837G>T (p.Ala613Ser)
c.693G>T
c.793G>T (p.Ala265Ser)
20g.45947393C>ACA409230843PCIF1c.1838C>A (p.Ala613Asp)
c.694C>A
c.794C>A (p.Ala265Asp)
20g.45947393C>GCA409230845PCIF1c.1838C>G (p.Ala613Gly)
c.694C>G
c.794C>G (p.Ala265Gly)
20g.45947393C>TCA409230847PCIF1c.1838C>T (p.Ala613Val)
c.694C>T
c.794C>T (p.Ala265Val)
20g.45947394C>ACA510753558PCIF1c.1839C>A (p.Ala613=)
c.695C>A
c.795C>A (p.Ala265=)
20g.45947394C=CA2366447719PCIF1c.1839C= (p.Ala613=)
c.695C=
c.795C= (p.Ala265=)
20g.45947394C>GCA510753560PCIF1c.1839C>G (p.Ala613=)
c.695C>G
c.795C>G (p.Ala265=)
20g.45947394C>TCA9884609PCIF1c.1839C>T (p.Ala613=)
c.695C>T
c.795C>T (p.Ala265=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947395T>ACA409230851PCIF1c.1840T>A (p.Phe614Ile)
c.696T>A
c.796T>A (p.Phe266Ile)
20g.45947395T>CCA409230852PCIF1c.1840T>C (p.Phe614Leu)
c.696T>C
c.796T>C (p.Phe266Leu)
20g.45947395T>GCA409230855PCIF1c.1840T>G (p.Phe614Val)
c.696T>G
c.796T>G (p.Phe266Val)
20g.45947396T>ACA409230857PCIF1c.1841T>A (p.Phe614Tyr)
c.697T>A
c.797T>A (p.Phe266Tyr)
20g.45947396T>CCA409230859PCIF1c.1841T>C (p.Phe614Ser)
c.697T>C
c.797T>C (p.Phe266Ser)
 dbSNP gnomAD v2 gnomAD v4
20g.45947396T>GCA409230861PCIF1c.1841T>G (p.Phe614Cys)
c.697T>G
c.797T>G (p.Phe266Cys)
20g.45947396T=CA2366447720PCIF1c.1841T= (p.Phe614=)
c.697T=
c.797T= (p.Phe266=)
20g.45947397T>ACA409230863PCIF1c.1842T>A (p.Phe614Leu)
c.698T>A
c.798T>A (p.Phe266Leu)
 dbSNP
20g.45947397T>CCA510753565PCIF1c.1842T>C (p.Phe614=)
c.698T>C
c.798T>C (p.Phe266=)
20g.45947397T>GCA409230864PCIF1c.1842T>G (p.Phe614Leu)
c.698T>G
c.798T>G (p.Phe266Leu)
20g.45947397T=CA2366447721PCIF1c.1842T= (p.Phe614=)
c.698T=
c.798T= (p.Phe266=)
20g.45947398G>ACA409230869PCIF1c.1843G>A (p.Glu615Lys)
c.699G>A
c.799G>A (p.Glu267Lys)
20g.45947398G>CCA409230868PCIF1c.1843G>C (p.Glu615Gln)
c.699G>C
c.799G>C (p.Glu267Gln)
20g.45947398G>TCA409230865PCIF1c.1843G>T (p.Glu615Ter)
c.699G>T
c.799G>T (p.Glu267Ter)
20g.45947399A=CA2366447722PCIF1c.1844A= (p.Glu615=)
c.700A=
c.800A= (p.Glu267=)
20g.45947399A>CCA409230871PCIF1c.1844A>C (p.Glu615Ala)
c.700A>C
c.800A>C (p.Glu267Ala)
20g.45947399A>GCA9884610PCIF1c.1844A>G (p.Glu615Gly)
c.700A>G
c.800A>G (p.Glu267Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947399A>TCA409230873PCIF1c.1844A>T (p.Glu615Val)
c.700A>T
c.800A>T (p.Glu267Val)
20g.45947400G>ACA510753568PCIF1c.1845G>A (p.Glu615=)
c.701G>A
c.801G>A (p.Glu267=)
 dbSNP gnomAD v2 gnomAD v4
20g.45947400G>CCA409230876PCIF1c.1845G>C (p.Glu615Asp)
c.701G>C
c.801G>C (p.Glu267Asp)
20g.45947400G=CA2366447723PCIF1c.1845G= (p.Glu615=)
c.701G=
c.801G= (p.Glu267=)
20g.45947400G>TCA409230878PCIF1c.1845G>T (p.Glu615Asp)
c.701G>T
c.801G>T (p.Glu267Asp)
20g.45947401C>ACA409230881PCIF1c.1846C>A (p.His616Asn)
c.702C>A
c.802C>A (p.His268Asn)
20g.45947401C>GCA409230883PCIF1c.1846C>G (p.His616Asp)
c.702C>G
c.802C>G (p.His268Asp)
 gnomAD v4
20g.45947401C>TCA409230884PCIF1c.1846C>T (p.His616Tyr)
c.702C>T
c.802C>T (p.His268Tyr)
 gnomAD v4
20g.45947402A>CCA409230886PCIF1c.1847A>C (p.His616Pro)
c.703A>C
c.803A>C (p.His268Pro)
20g.45947402A>GCA409230888PCIF1c.1847A>G (p.His616Arg)
c.703A>G
c.803A>G (p.His268Arg)
20g.45947402A>TCA409230890PCIF1c.1847A>T (p.His616Leu)
c.703A>T
c.803A>T (p.His268Leu)
20g.45947403T>ACA409230892PCIF1c.1848T>A (p.His616Gln)
c.704T>A
c.804T>A (p.His268Gln)
20g.45947403T>CCA9884611PCIF1c.1848T>C (p.His616=)
c.704T>C
c.804T>C (p.His268=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947403T>GCA409230894PCIF1c.1848T>G (p.His616Gln)
c.704T>G
c.804T>G (p.His268Gln)
20g.45947403T=CA2366447724PCIF1c.1848T= (p.His616=)
c.704T=
c.804T= (p.His268=)
20g.45947404G>ACA409230900PCIF1c.1849G>A (p.Glu617Lys)
c.705G>A
c.805G>A (p.Glu269Lys)
20g.45947404G>CCA409230897PCIF1c.1849G>C (p.Glu617Gln)
c.705G>C
c.805G>C (p.Glu269Gln)
20g.45947404G>TCA409230899PCIF1c.1849G>T (p.Glu617Ter)
c.705G>T
c.805G>T (p.Glu269Ter)
20g.45947405A>CCA409230903PCIF1c.1850A>C (p.Glu617Ala)
c.706A>C
c.806A>C (p.Glu269Ala)
20g.45947405A>GCA409230905PCIF1c.1850A>G (p.Glu617Gly)
c.706A>G
c.806A>G (p.Glu269Gly)
20g.45947405A>TCA409230906PCIF1c.1850A>T (p.Glu617Val)
c.706A>T
c.806A>T (p.Glu269Val)
20g.45947406G>ACA510753572PCIF1c.1851G>A (p.Glu617=)
c.707G>A
c.807G>A (p.Glu269=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.45947406G>CCA409230907PCIF1c.1851G>C (p.Glu617Asp)
c.707G>C
c.807G>C (p.Glu269Asp)
20g.45947406G=CA2366447725PCIF1c.1851G= (p.Glu617=)
c.707G=
c.807G= (p.Glu269=)
20g.45947406G>TCA409230908PCIF1c.1851G>T (p.Glu617Asp)
c.707G>T
c.807G>T (p.Glu269Asp)
20g.45947407T>ACA409230909PCIF1c.1852T>A (p.Tyr618Asn)
c.708T>A
c.808T>A (p.Tyr270Asn)
20g.45947407T>CCA409230910PCIF1c.1852T>C (p.Tyr618His)
c.708T>C
c.808T>C (p.Tyr270His)
20g.45947407T>GCA409230912PCIF1c.1852T>G (p.Tyr618Asp)
c.708T>G
c.808T>G (p.Tyr270Asp)
20g.45947408A>CCA409230915PCIF1c.1853A>C (p.Tyr618Ser)
c.709A>C
c.809A>C (p.Tyr270Ser)
20g.45947408A>GCA409230917PCIF1c.1853A>G (p.Tyr618Cys)
c.709A>G
c.809A>G (p.Tyr270Cys)
20g.45947408A>TCA409230919PCIF1c.1853A>T (p.Tyr618Phe)
c.709A>T
c.809A>T (p.Tyr270Phe)
20g.45947409C>ACA409230923PCIF1c.1854C>A (p.Tyr618Ter)
c.710C>A
c.810C>A (p.Tyr270Ter)
20g.45947409C>GCA409230921PCIF1c.1854C>G (p.Tyr618Ter)
c.710C>G
c.810C>G (p.Tyr270Ter)
20g.45947409C>TCA510753573PCIF1c.1854C>T (p.Tyr618=)
c.710C>T
c.810C>T (p.Tyr270=)
 gnomAD v4
20g.45947410C>ACA9884612PCIF1c.1855C>A (p.Arg619Ser)
c.711C>A
c.811C>A (p.Arg271Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947410C=CA2366447726PCIF1c.1855C= (p.Arg619=)
c.711C=
c.811C= (p.Arg271=)
20g.45947410C>GCA409230926PCIF1c.1855C>G (p.Arg619Gly)
c.711C>G
c.811C>G (p.Arg271Gly)
20g.45947410C>TCA9884613PCIF1c.1855C>T (p.Arg619Cys)
c.711C>T
c.811C>T (p.Arg271Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947411G>ACA409230929PCIF1c.1856G>A (p.Arg619His)
c.712G>A
c.812G>A (p.Arg271His)
 dbSNP gnomAD v2 gnomAD v4
20g.45947411G>CCA409230931PCIF1c.1856G>C (p.Arg619Pro)
c.712G>C
c.812G>C (p.Arg271Pro)
20g.45947411G=CA2366447727PCIF1c.1856G= (p.Arg619=)
c.712G=
c.812G= (p.Arg271=)
20g.45947411G>TCA409230933PCIF1c.1856G>T (p.Arg619Leu)
c.712G>T
c.812G>T (p.Arg271Leu)
20g.45947412C>ACA510753574PCIF1c.1857C>A (p.Arg619=)
c.713C>A
c.813C>A (p.Arg271=)
20g.45947412C>GCA510753575PCIF1c.1857C>G (p.Arg619=)
c.713C>G
c.813C>G (p.Arg271=)
20g.45947412C>TCA510753576PCIF1c.1857C>T (p.Arg619=)
c.713C>T
c.813C>T (p.Arg271=)
20g.45947413A=CA2366447728PCIF1c.1858A= (p.Ser620=)
c.714A=
c.814A= (p.Ser272=)
20g.45947413A>CCA409230935PCIF1c.1858A>C (p.Ser620Arg)
c.714A>C
c.814A>C (p.Ser272Arg)
 gnomAD v4
20g.45947413A>GCA409230937PCIF1c.1858A>G (p.Ser620Gly)
c.714A>G
c.814A>G (p.Ser272Gly)
20g.45947413A>TCA9884614PCIF1c.1858A>T (p.Ser620Cys)
c.714A>T
c.814A>T (p.Ser272Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947414G>ACA409230941PCIF1c.1859G>A (p.Ser620Asn)
c.715G>A
c.815G>A (p.Ser272Asn)
20g.45947414G>CCA409230943PCIF1c.1859G>C (p.Ser620Thr)
c.715G>C
c.815G>C (p.Ser272Thr)
20g.45947414G>TCA409230945PCIF1c.1859G>T (p.Ser620Ile)
c.715G>T
c.815G>T (p.Ser272Ile)
20g.45947415T>ACA409230947PCIF1c.1860T>A (p.Ser620Arg)
c.716T>A
c.816T>A (p.Ser272Arg)
20g.45947415T>CCA9884615PCIF1c.1860T>C (p.Ser620=)
c.716T>C
c.816T>C (p.Ser272=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947415T>GCA409230946PCIF1c.1860T>G (p.Ser620Arg)
c.716T>G
c.816T>G (p.Ser272Arg)
20g.45947415T=CA2366447729PCIF1c.1860T= (p.Ser620=)
c.716T=
c.816T= (p.Ser272=)
20g.45947416G>ACA409230948PCIF1c.1861G>A (p.Gly621Ser)
c.717G>A
c.817G>A (p.Gly273Ser)
20g.45947416G>CCA409230949PCIF1c.1861G>C (p.Gly621Arg)
c.717G>C
c.817G>C (p.Gly273Arg)
20g.45947416G>TCA409230950PCIF1c.1861G>T (p.Gly621Cys)
c.717G>T
c.817G>T (p.Gly273Cys)
20g.45947417G>ACA409230951PCIF1c.1862G>A (p.Gly621Asp)
c.718G>A
c.818G>A (p.Gly273Asp)
20g.45947417G>CCA409230952PCIF1c.1862G>C (p.Gly621Ala)
c.718G>C
c.818G>C (p.Gly273Ala)
20g.45947417G>TCA409230953PCIF1c.1862G>T (p.Gly621Val)
c.718G>T
c.818G>T (p.Gly273Val)
20g.45947418C>ACA510753579PCIF1c.1863C>A (p.Gly621=)
c.719C>A
c.819C>A (p.Gly273=)
20g.45947418C=CA2366447730PCIF1c.1863C= (p.Gly621=)
c.719C=
c.819C= (p.Gly273=)
20g.45947418C>GCA510753580PCIF1c.1863C>G (p.Gly621=)
c.719C>G
c.819C>G (p.Gly273=)
20g.45947418C>TCA510753582PCIF1c.1863C>T (p.Gly621=)
c.719C>T
c.819C>T (p.Gly273=)
 gnomAD v4
20g.45947419T>ACA409230955PCIF1c.1864T>A (p.Ser622Thr)
c.720T>A
c.820T>A (p.Ser274Thr)
20g.45947419T>CCA409230957PCIF1c.1864T>C (p.Ser622Pro)
c.720T>C
c.820T>C (p.Ser274Pro)
20g.45947419T>GCA409230958PCIF1c.1864T>G (p.Ser622Ala)
c.720T>G
c.820T>G (p.Ser274Ala)
20g.45947419dupCA744844696PCIF1c.1864dup (p.Ser622PhefsTer?)
c.720dup
c.820dup (p.Ser274PhefsTer?)
 dbSNP
20g.45947420C>ACA409230961PCIF1c.1865C>A (p.Ser622Tyr)
c.721C>A
c.821C>A (p.Ser274Tyr)
20g.45947420C>GCA409230963PCIF1c.1865C>G (p.Ser622Cys)
c.721C>G
c.821C>G (p.Ser274Cys)
 COSMIC
20g.45947420C>TCA409230965PCIF1c.1865C>T (p.Ser622Phe)
c.721C>T
c.821C>T (p.Ser274Phe)
20g.45947421C>ACA510753583PCIF1c.1866C>A (p.Ser622=)
c.722C>A
c.822C>A (p.Ser274=)
20g.45947421C=CA2366447731PCIF1c.1866C= (p.Ser622=)
c.722C=
c.822C= (p.Ser274=)
20g.45947421C>GCA510753584PCIF1c.1866C>G (p.Ser622=)
c.722C>G
c.822C>G (p.Ser274=)
 gnomAD v4
20g.45947421C>TCA9884616PCIF1c.1866C>T (p.Ser622=)
c.722C>T
c.822C>T (p.Ser274=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947422C>ACA315640933PCIF1c.1867C>A (p.Gln623Lys)
c.723C>A
c.823C>A (p.Gln275Lys)
 dbSNP
20g.45947422C=CA2366447732PCIF1c.1867C= (p.Gln623=)
c.723C=
c.823C= (p.Gln275=)
20g.45947422C>GCA409230971PCIF1c.1867C>G (p.Gln623Glu)
c.723C>G
c.823C>G (p.Gln275Glu)
20g.45947422C>TCA409230968PCIF1c.1867C>T (p.Gln623Ter)
c.723C>T
c.823C>T (p.Gln275Ter)
20g.45947423A=CA2366447733PCIF1c.1868A= (p.Gln623=)
c.724A=
c.824A= (p.Gln275=)
20g.45947423A>CCA409230975PCIF1c.1868A>C (p.Gln623Pro)
c.724A>C
c.824A>C (p.Gln275Pro)
20g.45947423A>GCA409230974PCIF1c.1868A>G (p.Gln623Arg)
c.724A>G
c.824A>G (p.Gln275Arg)
 dbSNP gnomAD v3 gnomAD v4
20g.45947423A>TCA409230977PCIF1c.1868A>T (p.Gln623Leu)
c.724A>T
c.824A>T (p.Gln275Leu)
20g.45947424G>ACA510753586PCIF1c.1869G>A (p.Gln623=)
c.725G>A
c.825G>A (p.Gln275=)
20g.45947424G>CCA409230979PCIF1c.1869G>C (p.Gln623His)
c.725G>C
c.825G>C (p.Gln275His)
20g.45947424G>TCA409230980PCIF1c.1869G>T (p.Gln623His)
c.725G>T
c.825G>T (p.Gln275His)
20g.45947425C>ACA409230982PCIF1c.1870C>A (p.His624Asn)
c.726C>A
c.826C>A (p.His276Asn)
20g.45947425C>GCA409230983PCIF1c.1870C>G (p.His624Asp)
c.726C>G
c.826C>G (p.His276Asp)
20g.45947425C>TCA409230985PCIF1c.1870C>T (p.His624Tyr)
c.726C>T
c.826C>T (p.His276Tyr)
20g.45947426A>CCA409230987PCIF1c.1871A>C (p.His624Pro)
c.727A>C
c.827A>C (p.His276Pro)
20g.45947426A>GCA409230989PCIF1c.1871A>G (p.His624Arg)
c.727A>G
c.827A>G (p.His276Arg)
20g.45947426A>TCA409230991PCIF1c.1871A>T (p.His624Leu)
c.727A>T
c.827A>T (p.His276Leu)
20g.45947427C>ACA409230993PCIF1c.1872C>A (p.His624Gln)
c.728C>A
c.828C>A (p.His276Gln)
20g.45947427C=CA2366447734PCIF1c.1872C= (p.His624=)
c.728C=
c.828C= (p.His276=)
20g.45947427C>GCA409230995PCIF1c.1872C>G (p.His624Gln)
c.728C>G
c.828C>G (p.His276Gln)
 dbSNP gnomAD v3 gnomAD v4
20g.45947427C>TCA9884617PCIF1c.1872C>T (p.His624=)
c.728C>T
c.828C>T (p.His276=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947428A=CA2366447735PCIF1c.1873A= (p.Ile625=)
c.729A=
c.829A= (p.Ile277=)
20g.45947428A>CCA409231003PCIF1c.1873A>C (p.Ile625Leu)
c.729A>C
c.829A>C (p.Ile277Leu)
20g.45947428A>GCA409231001PCIF1c.1873A>G (p.Ile625Val)
c.729A>G
c.829A>G (p.Ile277Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.45947428A>TCA409230998PCIF1c.1873A>T (p.Ile625Phe)
c.729A>T
c.829A>T (p.Ile277Phe)
20g.45947429T>ACA409231005PCIF1c.1874T>A (p.Ile625Asn)
c.730T>A
c.830T>A (p.Ile277Asn)
20g.45947429T>CCA409231006PCIF1c.1874T>C (p.Ile625Thr)
c.730T>C
c.830T>C (p.Ile277Thr)
 gnomAD v4
20g.45947429T>GCA409231008PCIF1c.1874T>G (p.Ile625Ser)
c.730T>G
c.830T>G (p.Ile277Ser)
20g.45947430C>ACA510753569PCIF1c.1875C>A (p.Ile625=)
c.731C>A
c.831C>A (p.Ile277=)
20g.45947430C=CA2366447736PCIF1c.1875C= (p.Ile625=)
c.731C=
c.831C= (p.Ile277=)
20g.45947430C>GCA409231009PCIF1c.1875C>G (p.Ile625Met)
c.731C>G
c.831C>G (p.Ile277Met)
 dbSNP gnomAD v2 gnomAD v4
20g.45947430C>TCA510753570PCIF1c.1875C>T (p.Ile625=)
c.731C>T
c.831C>T (p.Ile277=)
20g.45947431T>ACA409231012PCIF1c.1876T>A (p.Cys626Ser)
c.732T>A
c.832T>A (p.Cys278Ser)
20g.45947431T>CCA409231014PCIF1c.1876T>C (p.Cys626Arg)
c.732T>C
c.832T>C (p.Cys278Arg)
20g.45947431T>GCA409231015PCIF1c.1876T>G (p.Cys626Gly)
c.732T>G
c.832T>G (p.Cys278Gly)
20g.45947432G>ACA409231017PCIF1c.1877G>A (p.Cys626Tyr)
c.733G>A
c.833G>A (p.Cys278Tyr)
20g.45947432G>CCA9884618PCIF1c.1877G>C (p.Cys626Ser)
c.733G>C
c.833G>C (p.Cys278Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947432G=CA2366447737PCIF1c.1877G= (p.Cys626=)
c.733G=
c.833G= (p.Cys278=)
20g.45947432G>TCA409231020PCIF1c.1877G>T (p.Cys626Phe)
c.733G>T
c.833G>T (p.Cys278Phe)
20g.45947433C>ACA409231022PCIF1c.1878C>A (p.Cys626Ter)
c.734C>A
c.834C>A (p.Cys278Ter)
20g.45947433C>GCA409231025PCIF1c.1878C>G (p.Cys626Trp)
c.734C>G
c.834C>G (p.Cys278Trp)
20g.45947433C>TCA510753571PCIF1c.1878C>T (p.Cys626=)
c.734C>T
c.834C>T (p.Cys278=)
20g.45947433_45947436delinsCAAGCA2366447738PCIF1c.1878_1881delinsCAAG (p.Cys626=)
c.734_737delinsCAAG
c.834_837delinsCAAG (p.Cys278=)
20g.45947434A=CA2366447739PCIF1c.1879A= (p.Lys627=)
c.735A=
c.835A= (p.Lys279=)
20g.45947434A>CCA9884619PCIF1c.1879A>C (p.Lys627Gln)
c.735A>C
c.835A>C (p.Lys279Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947434A>GCA409231030PCIF1c.1879A>G (p.Lys627Glu)
c.735A>G
c.835A>G (p.Lys279Glu)
20g.45947434A>TCA409231027PCIF1c.1879A>T (p.Lys627Ter)
c.735A>T
c.835A>T (p.Lys279Ter)
20g.45947437_45947439delCA920221984PCIF1c.1882_1883+1del
c.738_740del
c.838_839+1del
 dbSNP gnomAD v4
20g.45947435A>CCA409231032PCIF1c.1880A>C (p.Lys627Thr)
c.736A>C
c.836A>C (p.Lys279Thr)
20g.45947435A>GCA409231034PCIF1c.1880A>G (p.Lys627Arg)
c.736A>G
c.836A>G (p.Lys279Arg)
20g.45947435A>TCA409231036PCIF1c.1880A>T (p.Lys627Met)
c.736A>T
c.836A>T (p.Lys279Met)
20g.45947436G>ACA9884620PCIF1c.1881G>A (p.Lys627=)
c.737G>A
c.837G>A (p.Lys279=)
 dbSNP ExAC gnomAD v2
20g.45947436G>CCA9884621PCIF1c.1881G>C (p.Lys627Asn)
c.737G>C
c.837G>C (p.Lys279Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947436G=CA2366447740PCIF1c.1881G= (p.Lys627=)
c.737G=
c.837G= (p.Lys279=)
20g.45947436G>TCA409231039PCIF1c.1881G>T (p.Lys627Asn)
c.737G>T
c.837G>T (p.Lys279Asn)
20g.45947437A>CCA409231040PCIF1c.1882A>C (p.Lys628Gln)
c.738A>C
c.838A>C (p.Lys280Gln)
 ClinVar
20g.45947437A>GCA409231042PCIF1c.1882A>G (p.Lys628Glu)
c.738A>G
c.838A>G (p.Lys280Glu)
20g.45947437A>TCA409231043PCIF1c.1882A>T (p.Lys628Ter)
c.738A>T
c.838A>T (p.Lys280Ter)
20g.45947438A>CCA409231046PCIF1c.1883A>C (p.Lys628Thr)
c.739A>C
c.839A>C (p.Lys280Thr)
20g.45947438A>GCA409231048PCIF1c.1883A>G (p.Lys628Arg)
c.739A>G
c.839A>G (p.Lys280Arg)
20g.45947438A>TCA409231049PCIF1c.1883A>T (p.Lys628Met)
c.739A>T
c.839A>T (p.Lys280Met)
20g.45947439G>ACA409231054PCIF1c.1883+1G>A (n.1883+1G>A)
c.740G>A
c.839+1G>A (n.839+1G>A)
20g.45947439G>CCA409231055PCIF1c.1883+1G>C (n.1883+1G>C)
c.740G>C
c.839+1G>C (n.839+1G>C)
20g.45947439G>TCA409231052PCIF1c.1883+1G>T (n.1883+1G>T)
c.740G>T
c.839+1G>T (n.839+1G>T)
20g.45947440T>ACA409231058PCIF1c.1883+2T>A (n.1883+2T>A)
c.741T>A
c.839+2T>A (n.839+2T>A)
20g.45947440T>CCA409231060PCIF1c.1883+2T>C (n.1883+2T>C)
c.741T>C
c.839+2T>C (n.839+2T>C)
20g.45947440T>GCA409231062PCIF1c.1883+2T>G (n.1883+2T>G)
c.741T>G
c.839+2T>G (n.839+2T>G)
20g.45947441G>ACA744844747PCIF1c.1883+3G>A (n.1883+3G>A)
c.742G>A
c.839+3G>A (n.839+3G>A)
 dbSNP gnomAD v3 gnomAD v4
20g.45947441G=CA2366447741PCIF1c.1883+3G= (n.1883+3G=)
c.742G=
c.839+3G= (n.839+3G=)
20g.45947442G>ACA2577413317PCIF1c.1883+4G>A (n.1883+4G>A)
c.743G>A
c.839+4G>A (n.839+4G>A)
20g.45947444T>CCA2653107349PCIF1c.1883+6T>C (n.1883+6T>C)
c.745T>C
c.839+6T>C (n.839+6T>C)
 gnomAD v4
20g.45947444T>GCA2366447743PCIF1c.1883+6T>G (n.1883+6T>G)
c.745T>G
c.839+6T>G (n.839+6T>G)
 dbSNP
20g.45947444T=CA2366447742PCIF1c.1883+6T= (n.1883+6T=)
c.745T=
c.839+6T= (n.839+6T=)
20g.45947446C=CA2366447744PCIF1c.1883+8C= (n.1883+8C=)
c.747C=
c.839+8C= (n.839+8C=)
20g.45947446C>TCA636176156PCIF1c.1883+8C>T (n.1883+8C>T)
c.747C>T
c.839+8C>T (n.839+8C>T)
 dbSNP gnomAD v2 gnomAD v4
20g.45947449G>CCA315640938PCIF1c.1883+11G>C (n.1883+11G>C)
c.750G>C
c.839+11G>C (n.839+11G>C)
 dbSNP gnomAD v4
20g.45947449G=CA2366447745PCIF1c.1883+11G= (n.1883+11G=)
c.750G=
c.839+11G= (n.839+11G=)
20g.45947450G>ACA2653107351PCIF1c.1883+12G>A (n.1883+12G>A)
c.751G>A
c.839+12G>A (n.839+12G>A)
 gnomAD v4
20g.45947451G>CCA636176157PCIF1c.1883+13G>C (n.1883+13G>C)
c.752G>C
c.839+13G>C (n.839+13G>C)
 dbSNP gnomAD v2
20g.45947451G=CA2366447746PCIF1c.1883+13G= (n.1883+13G=)
c.752G=
c.839+13G= (n.839+13G=)
20g.45947452A>TCA2653107352PCIF1c.1883+14A>T (n.1883+14A>T)
c.753A>T
c.839+14A>T (n.839+14A>T)
 gnomAD v4
20g.45947453G>ACA2577413318PCIF1c.1883+15G>A (n.1883+15G>A)
c.754G>A
c.839+15G>A (n.839+15G>A)
20g.45947454G>ACA636176158PCIF1c.1883+16G>A (n.1883+16G>A)
c.755G>A
c.839+16G>A (n.839+16G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.45947454G=CA2366447747PCIF1c.1883+16G= (n.1883+16G=)
c.755G=
c.839+16G= (n.839+16G=)
20g.45947456C=CA2366447748PCIF1c.1883+18C= (n.1883+18C=)
c.757C=
c.839+18C= (n.839+18C=)
20g.45947456C>TCA2653107353PCIF1c.1883+18C>T (n.1883+18C>T)
c.757C>T
c.839+18C>T (n.839+18C>T)
 gnomAD v4
20g.45947457A>GCA2653107354PCIF1c.1883+19A>G (n.1883+19A>G)
c.758A>G
c.839+19A>G (n.839+19A>G)
 gnomAD v4
20g.45947457dupCA9884622PCIF1c.1883+19dup (n.1883+19dup)
c.758dup
c.839+19dup (n.839+19dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947458G>ACA2653107356PCIF1c.1883+20G>A (n.1883+20G>A)
c.759G>A
c.839+20G>A (n.839+20G>A)
 gnomAD v4
20g.45947459G>ACA2577413319PCIF1c.1883+21G>A (n.1883+21G>A)
c.760G>A
c.839+21G>A (n.839+21G>A)
20g.45947460G>CCA636176159PCIF1c.1883+22G>C (n.1883+22G>C)
c.761G>C
c.839+22G>C (n.839+22G>C)
 dbSNP gnomAD v2 gnomAD v4
20g.45947460G=CA2366447749PCIF1c.1883+22G= (n.1883+22G=)
c.761G=
c.839+22G= (n.839+22G=)
20g.45947461G=CA2366447750PCIF1c.1883+23G= (n.1883+23G=)
c.762G=
c.839+23G= (n.839+23G=)
20g.45947461G>TCA9884623PCIF1c.1883+23G>T (n.1883+23G>T)
c.762G>T
c.839+23G>T (n.839+23G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947463A=CA2366447751PCIF1c.1883+25A= (n.1883+25A=)
c.764A=
c.839+25A= (n.839+25A=)
20g.45947463A>CCA2816513948PCIF1c.1883+25A>C (n.1883+25A>C)
c.764A>C
c.839+25A>C (n.839+25A>C)
20g.45947463A>GCA9884624PCIF1c.1883+25A>G (n.1883+25A>G)
c.764A>G
c.839+25A>G (n.839+25A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947465G>ACA2816513949PCIF1c.1883+27G>A (n.1883+27G>A)
c.766G>A
c.839+27G>A (n.839+27G>A)
20g.45947466A=CA2366447752PCIF1c.1883+28A= (n.1883+28A=)
c.767A=
c.839+28A= (n.839+28A=)
20g.45947466A>CCA2736988025PCIF1c.1883+28A>C (n.1883+28A>C)
c.767A>C
c.839+28A>C (n.839+28A>C)
 dbSNP
20g.45947466A>GCA2577413320PCIF1c.1883+28A>G (n.1883+28A>G)
c.767A>G
c.839+28A>G (n.839+28A>G)
20g.45947467G>ACA9884625PCIF1c.1883+29G>A (n.1883+29G>A)
c.768G>A
c.839+29G>A (n.839+29G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947467G=CA2366447753PCIF1c.1883+29G= (n.1883+29G=)
c.768G=
c.839+29G= (n.839+29G=)
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.45947468G>ACA636176160PCIF1c.1883+30G>A (n.1883+30G>A)
c.769G>A
c.839+30G>A (n.839+30G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.45947468G>CCA2577413321PCIF1c.1883+30G>C (n.1883+30G>C)
c.769G>C
c.839+30G>C (n.839+30G>C)
20g.45947468G=CA2366447754PCIF1c.1883+30G= (n.1883+30G=)
c.769G=
c.839+30G= (n.839+30G=)
20g.45947469C=CA2366447755PCIF1c.1883+31C= (n.1883+31C=)
c.770C=
c.839+31C= (n.839+31C=)
20g.45947469C>GCA744844769PCIF1c.1883+31C>G (n.1883+31C>G)
c.770C>G
c.839+31C>G (n.839+31C>G)
 dbSNP gnomAD v3 gnomAD v4
20g.45947469C>TCA2653107357PCIF1c.1883+31C>T (n.1883+31C>T)
c.770C>T
c.839+31C>T (n.839+31C>T)
 dbSNP gnomAD v4
20g.45947470T>GCA2366447757PCIF1c.1883+32T>G (n.1883+32T>G)
c.771T>G
c.839+32T>G (n.839+32T>G)
 dbSNP
20g.45947470T=CA2366447756PCIF1c.1883+32T= (n.1883+32T=)
c.771T=
c.839+32T= (n.839+32T=)
20g.45947471G>ACA2653107358PCIF1c.1883+33G>A (n.1883+33G>A)
c.772G>A
c.839+33G>A (n.839+33G>A)
 gnomAD v4
20g.45947472G>ACA2653107359PCIF1c.1883+34G>A (n.1883+34G>A)
c.773G>A
c.839+34G>A (n.839+34G>A)
 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

Number of alleles fetched