| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.45947373C>A | CA510753536 | PCIF1 | c.1818C>A (p.Arg606=) c.674C>A c.774C>A (p.Arg258=) | |
| 20 | g.45947373C= | CA2366447710 | PCIF1 | c.1818C= (p.Arg606=) c.674C= c.774C= (p.Arg258=) | |
| 20 | g.45947373C>G | CA9884605 | PCIF1 | c.1818C>G (p.Arg606=) c.674C>G c.774C>G (p.Arg258=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947373C>T | CA9884606 | PCIF1 | c.1818C>T (p.Arg606=) c.674C>T c.774C>T (p.Arg258=) | dbSNP ExAC gnomAD v4 |
| 20 | g.45947374C>A | CA409230756 | PCIF1 | c.1819C>A (p.His607Asn) c.675C>A c.775C>A (p.His259Asn) | |
| 20 | g.45947374C>G | CA409230759 | PCIF1 | c.1819C>G (p.His607Asp) c.675C>G c.775C>G (p.His259Asp) | |
| 20 | g.45947374C>T | CA409230758 | PCIF1 | c.1819C>T (p.His607Tyr) c.675C>T c.775C>T (p.His259Tyr) | gnomAD v4 |
| 20 | g.45947375A>C | CA409230762 | PCIF1 | c.1820A>C (p.His607Pro) c.676A>C c.776A>C (p.His259Pro) | |
| 20 | g.45947375A>G | CA409230763 | PCIF1 | c.1820A>G (p.His607Arg) c.676A>G c.776A>G (p.His259Arg) | |
| 20 | g.45947375A>T | CA409230764 | PCIF1 | c.1820A>T (p.His607Leu) c.676A>T c.776A>T (p.His259Leu) | |
| 20 | g.45947376C>A | CA409230767 | PCIF1 | c.1821C>A (p.His607Gln) c.677C>A c.777C>A (p.His259Gln) | |
| 20 | g.45947376C>G | CA409230770 | PCIF1 | c.1821C>G (p.His607Gln) c.677C>G c.777C>G (p.His259Gln) | |
| 20 | g.45947376C>T | CA510753540 | PCIF1 | c.1821C>T (p.His607=) c.677C>T c.777C>T (p.His259=) | gnomAD v4 |
| 20 | g.45947377C>A | CA409230771 | PCIF1 | c.1822C>A (p.Gln608Lys) c.678C>A c.778C>A (p.Gln260Lys) | |
| 20 | g.45947377C>G | CA409230773 | PCIF1 | c.1822C>G (p.Gln608Glu) c.678C>G c.778C>G (p.Gln260Glu) | |
| 20 | g.45947377C>T | CA409230775 | PCIF1 | c.1822C>T (p.Gln608Ter) c.678C>T c.778C>T (p.Gln260Ter) | |
| 20 | g.45947378A>C | CA409230777 | PCIF1 | c.1823A>C (p.Gln608Pro) c.679A>C c.779A>C (p.Gln260Pro) | |
| 20 | g.45947378A>G | CA409230778 | PCIF1 | c.1823A>G (p.Gln608Arg) c.679A>G c.779A>G (p.Gln260Arg) | |
| 20 | g.45947378A>T | CA409230781 | PCIF1 | c.1823A>T (p.Gln608Leu) c.679A>T c.779A>T (p.Gln260Leu) | |
| 20 | g.45947379G>A | CA510753541 | PCIF1 | c.1824G>A (p.Gln608=) c.680G>A c.780G>A (p.Gln260=) | |
| 20 | g.45947379G>C | CA409230783 | PCIF1 | c.1824G>C (p.Gln608His) c.680G>C c.780G>C (p.Gln260His) | gnomAD v4 |
| 20 | g.45947379G>T | CA409230784 | PCIF1 | c.1824G>T (p.Gln608His) c.680G>T c.780G>T (p.Gln260His) | |
| 20 | g.45947380T>A | CA409230787 | PCIF1 | c.1825T>A (p.Leu609Met) c.681T>A c.781T>A (p.Leu261Met) | dbSNP |
| 20 | g.45947380T>C | CA510753542 | PCIF1 | c.1825T>C (p.Leu609=) c.681T>C c.781T>C (p.Leu261=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947380T>G | CA409230789 | PCIF1 | c.1825T>G (p.Leu609Val) c.681T>G c.781T>G (p.Leu261Val) | |
| 20 | g.45947380T= | CA2366447711 | PCIF1 | c.1825T= (p.Leu609=) c.681T= c.781T= (p.Leu261=) | |
| 20 | g.45947381T>A | CA409230791 | PCIF1 | c.1826T>A (p.Leu609Ter) c.682T>A c.782T>A (p.Leu261Ter) | |
| 20 | g.45947381T>C | CA409230792 | PCIF1 | c.1826T>C (p.Leu609Ser) c.682T>C c.782T>C (p.Leu261Ser) | |
| 20 | g.45947381T>G | CA9884607 | PCIF1 | c.1826T>G (p.Leu609Trp) c.682T>G c.782T>G (p.Leu261Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947381T= | CA2366447712 | PCIF1 | c.1826T= (p.Leu609=) c.682T= c.782T= (p.Leu261=) | |
| 20 | g.45947382G>A | CA510753544 | PCIF1 | c.1827G>A (p.Leu609=) c.683G>A c.783G>A (p.Leu261=) | dbSNP gnomAD v4 |
| 20 | g.45947382G>C | CA409230796 | PCIF1 | c.1827G>C (p.Leu609Phe) c.683G>C c.783G>C (p.Leu261Phe) | |
| 20 | g.45947382G= | CA2366447713 | PCIF1 | c.1827G= (p.Leu609=) c.683G= c.783G= (p.Leu261=) | |
| 20 | g.45947382G>T | CA409230798 | PCIF1 | c.1827G>T (p.Leu609Phe) c.683G>T c.783G>T (p.Leu261Phe) | |
| 20 | g.45947383A= | CA2366447714 | PCIF1 | c.1828A= (p.Ile610=) c.684A= c.784A= (p.Ile262=) | |
| 20 | g.45947383A>C | CA409230800 | PCIF1 | c.1828A>C (p.Ile610Leu) c.684A>C c.784A>C (p.Ile262Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947383A>G | CA409230802 | PCIF1 | c.1828A>G (p.Ile610Val) c.684A>G c.784A>G (p.Ile262Val) | |
| 20 | g.45947383A>T | CA409230803 | PCIF1 | c.1828A>T (p.Ile610Phe) c.684A>T c.784A>T (p.Ile262Phe) | |
| 20 | g.45947384T>A | CA409230805 | PCIF1 | c.1829T>A (p.Ile610Asn) c.685T>A c.785T>A (p.Ile262Asn) | |
| 20 | g.45947384T>C | CA409230807 | PCIF1 | c.1829T>C (p.Ile610Thr) c.685T>C c.785T>C (p.Ile262Thr) | |
| 20 | g.45947384T>G | CA409230809 | PCIF1 | c.1829T>G (p.Ile610Ser) c.685T>G c.785T>G (p.Ile262Ser) | |
| 20 | g.45947385C>A | CA510753547 | PCIF1 | c.1830C>A (p.Ile610=) c.686C>A c.786C>A (p.Ile262=) | |
| 20 | g.45947385C>G | CA409230812 | PCIF1 | c.1830C>G (p.Ile610Met) c.686C>G c.786C>G (p.Ile262Met) | |
| 20 | g.45947385C>T | CA510753548 | PCIF1 | c.1830C>T (p.Ile610=) c.686C>T c.786C>T (p.Ile262=) | gnomAD v4 |
| 20 | g.45947386del | CA645606509 | PCIF1 | c.1831del (p.Leu611CysfsTer?) c.687del c.787del (p.Leu263CysfsTer?) | gnomAD v4 COSMIC |
| 20 | g.45947386C>A | CA409230816 | PCIF1 | c.1831C>A (p.Leu611Met) c.687C>A c.787C>A (p.Leu263Met) | |
| 20 | g.45947386C= | CA2366447715 | PCIF1 | c.1831C= (p.Leu611=) c.687C= c.787C= (p.Leu263=) | |
| 20 | g.45947386C>G | CA409230814 | PCIF1 | c.1831C>G (p.Leu611Val) c.687C>G c.787C>G (p.Leu263Val) | |
| 20 | g.45947386C>T | CA510753549 | PCIF1 | c.1831C>T (p.Leu611=) c.687C>T c.787C>T (p.Leu263=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947387T>A | CA409230818 | PCIF1 | c.1832T>A (p.Leu611Gln) c.688T>A c.788T>A (p.Leu263Gln) | |
| 20 | g.45947387T>C | CA409230820 | PCIF1 | c.1832T>C (p.Leu611Pro) c.688T>C c.788T>C (p.Leu263Pro) | |
| 20 | g.45947387T>G | CA409230822 | PCIF1 | c.1832T>G (p.Leu611Arg) c.688T>G c.788T>G (p.Leu263Arg) | |
| 20 | g.45947388G>A | CA315640908 | PCIF1 | c.1833G>A (p.Leu611=) c.689G>A c.789G>A (p.Leu263=) | dbSNP |
| 20 | g.45947388G>C | CA510753552 | PCIF1 | c.1833G>C (p.Leu611=) c.689G>C c.789G>C (p.Leu263=) | |
| 20 | g.45947388G= | CA2366447716 | PCIF1 | c.1833G= (p.Leu611=) c.689G= c.789G= (p.Leu263=) | |
| 20 | g.45947388G>T | CA510753554 | PCIF1 | c.1833G>T (p.Leu611=) c.689G>T c.789G>T (p.Leu263=) | |
| 20 | g.45947389C>A | CA315640925 | PCIF1 | c.1834C>A (p.Pro612Thr) c.690C>A c.790C>A (p.Pro264Thr) | dbSNP gnomAD v4 |
| 20 | g.45947389C= | CA2366447717 | PCIF1 | c.1834C= (p.Pro612=) c.690C= c.790C= (p.Pro264=) | |
| 20 | g.45947389C>G | CA9884608 | PCIF1 | c.1834C>G (p.Pro612Ala) c.690C>G c.790C>G (p.Pro264Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947389C>T | CA409230829 | PCIF1 | c.1834C>T (p.Pro612Ser) c.690C>T c.790C>T (p.Pro264Ser) | |
| 20 | g.45947390C>A | CA409230831 | PCIF1 | c.1835C>A (p.Pro612His) c.691C>A c.791C>A (p.Pro264His) | |
| 20 | g.45947390C= | CA2366447718 | PCIF1 | c.1835C= (p.Pro612=) c.691C= c.791C= (p.Pro264=) | |
| 20 | g.45947390C>G | CA409230833 | PCIF1 | c.1835C>G (p.Pro612Arg) c.691C>G c.791C>G (p.Pro264Arg) | |
| 20 | g.45947390C>T | CA409230835 | PCIF1 | c.1835C>T (p.Pro612Leu) c.691C>T c.791C>T (p.Pro264Leu) | dbSNP gnomAD v4 |
| 20 | g.45947391T>A | CA510753555 | PCIF1 | c.1836T>A (p.Pro612=) c.692T>A c.792T>A (p.Pro264=) | |
| 20 | g.45947391T>C | CA510753556 | PCIF1 | c.1836T>C (p.Pro612=) c.692T>C c.792T>C (p.Pro264=) | |
| 20 | g.45947391T>G | CA510753557 | PCIF1 | c.1836T>G (p.Pro612=) c.692T>G c.792T>G (p.Pro264=) | |
| 20 | g.45947392G>A | CA409230841 | PCIF1 | c.1837G>A (p.Ala613Thr) c.693G>A c.793G>A (p.Ala265Thr) | |
| 20 | g.45947392G>C | CA409230839 | PCIF1 | c.1837G>C (p.Ala613Pro) c.693G>C c.793G>C (p.Ala265Pro) | |
| 20 | g.45947392G>T | CA409230837 | PCIF1 | c.1837G>T (p.Ala613Ser) c.693G>T c.793G>T (p.Ala265Ser) | |
| 20 | g.45947393C>A | CA409230843 | PCIF1 | c.1838C>A (p.Ala613Asp) c.694C>A c.794C>A (p.Ala265Asp) | |
| 20 | g.45947393C>G | CA409230845 | PCIF1 | c.1838C>G (p.Ala613Gly) c.694C>G c.794C>G (p.Ala265Gly) | |
| 20 | g.45947393C>T | CA409230847 | PCIF1 | c.1838C>T (p.Ala613Val) c.694C>T c.794C>T (p.Ala265Val) | |
| 20 | g.45947394C>A | CA510753558 | PCIF1 | c.1839C>A (p.Ala613=) c.695C>A c.795C>A (p.Ala265=) | |
| 20 | g.45947394C= | CA2366447719 | PCIF1 | c.1839C= (p.Ala613=) c.695C= c.795C= (p.Ala265=) | |
| 20 | g.45947394C>G | CA510753560 | PCIF1 | c.1839C>G (p.Ala613=) c.695C>G c.795C>G (p.Ala265=) | |
| 20 | g.45947394C>T | CA9884609 | PCIF1 | c.1839C>T (p.Ala613=) c.695C>T c.795C>T (p.Ala265=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947395T>A | CA409230851 | PCIF1 | c.1840T>A (p.Phe614Ile) c.696T>A c.796T>A (p.Phe266Ile) | |
| 20 | g.45947395T>C | CA409230852 | PCIF1 | c.1840T>C (p.Phe614Leu) c.696T>C c.796T>C (p.Phe266Leu) | |
| 20 | g.45947395T>G | CA409230855 | PCIF1 | c.1840T>G (p.Phe614Val) c.696T>G c.796T>G (p.Phe266Val) | |
| 20 | g.45947396T>A | CA409230857 | PCIF1 | c.1841T>A (p.Phe614Tyr) c.697T>A c.797T>A (p.Phe266Tyr) | |
| 20 | g.45947396T>C | CA409230859 | PCIF1 | c.1841T>C (p.Phe614Ser) c.697T>C c.797T>C (p.Phe266Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947396T>G | CA409230861 | PCIF1 | c.1841T>G (p.Phe614Cys) c.697T>G c.797T>G (p.Phe266Cys) | |
| 20 | g.45947396T= | CA2366447720 | PCIF1 | c.1841T= (p.Phe614=) c.697T= c.797T= (p.Phe266=) | |
| 20 | g.45947397T>A | CA409230863 | PCIF1 | c.1842T>A (p.Phe614Leu) c.698T>A c.798T>A (p.Phe266Leu) | dbSNP |
| 20 | g.45947397T>C | CA510753565 | PCIF1 | c.1842T>C (p.Phe614=) c.698T>C c.798T>C (p.Phe266=) | |
| 20 | g.45947397T>G | CA409230864 | PCIF1 | c.1842T>G (p.Phe614Leu) c.698T>G c.798T>G (p.Phe266Leu) | |
| 20 | g.45947397T= | CA2366447721 | PCIF1 | c.1842T= (p.Phe614=) c.698T= c.798T= (p.Phe266=) | |
| 20 | g.45947398G>A | CA409230869 | PCIF1 | c.1843G>A (p.Glu615Lys) c.699G>A c.799G>A (p.Glu267Lys) | |
| 20 | g.45947398G>C | CA409230868 | PCIF1 | c.1843G>C (p.Glu615Gln) c.699G>C c.799G>C (p.Glu267Gln) | |
| 20 | g.45947398G>T | CA409230865 | PCIF1 | c.1843G>T (p.Glu615Ter) c.699G>T c.799G>T (p.Glu267Ter) | |
| 20 | g.45947399A= | CA2366447722 | PCIF1 | c.1844A= (p.Glu615=) c.700A= c.800A= (p.Glu267=) | |
| 20 | g.45947399A>C | CA409230871 | PCIF1 | c.1844A>C (p.Glu615Ala) c.700A>C c.800A>C (p.Glu267Ala) | |
| 20 | g.45947399A>G | CA9884610 | PCIF1 | c.1844A>G (p.Glu615Gly) c.700A>G c.800A>G (p.Glu267Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947399A>T | CA409230873 | PCIF1 | c.1844A>T (p.Glu615Val) c.700A>T c.800A>T (p.Glu267Val) | |
| 20 | g.45947400G>A | CA510753568 | PCIF1 | c.1845G>A (p.Glu615=) c.701G>A c.801G>A (p.Glu267=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947400G>C | CA409230876 | PCIF1 | c.1845G>C (p.Glu615Asp) c.701G>C c.801G>C (p.Glu267Asp) | |
| 20 | g.45947400G= | CA2366447723 | PCIF1 | c.1845G= (p.Glu615=) c.701G= c.801G= (p.Glu267=) | |
| 20 | g.45947400G>T | CA409230878 | PCIF1 | c.1845G>T (p.Glu615Asp) c.701G>T c.801G>T (p.Glu267Asp) | |
| 20 | g.45947401C>A | CA409230881 | PCIF1 | c.1846C>A (p.His616Asn) c.702C>A c.802C>A (p.His268Asn) | |
| 20 | g.45947401C>G | CA409230883 | PCIF1 | c.1846C>G (p.His616Asp) c.702C>G c.802C>G (p.His268Asp) | gnomAD v4 |
| 20 | g.45947401C>T | CA409230884 | PCIF1 | c.1846C>T (p.His616Tyr) c.702C>T c.802C>T (p.His268Tyr) | gnomAD v4 |
| 20 | g.45947402A>C | CA409230886 | PCIF1 | c.1847A>C (p.His616Pro) c.703A>C c.803A>C (p.His268Pro) | |
| 20 | g.45947402A>G | CA409230888 | PCIF1 | c.1847A>G (p.His616Arg) c.703A>G c.803A>G (p.His268Arg) | |
| 20 | g.45947402A>T | CA409230890 | PCIF1 | c.1847A>T (p.His616Leu) c.703A>T c.803A>T (p.His268Leu) | |
| 20 | g.45947403T>A | CA409230892 | PCIF1 | c.1848T>A (p.His616Gln) c.704T>A c.804T>A (p.His268Gln) | |
| 20 | g.45947403T>C | CA9884611 | PCIF1 | c.1848T>C (p.His616=) c.704T>C c.804T>C (p.His268=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947403T>G | CA409230894 | PCIF1 | c.1848T>G (p.His616Gln) c.704T>G c.804T>G (p.His268Gln) | |
| 20 | g.45947403T= | CA2366447724 | PCIF1 | c.1848T= (p.His616=) c.704T= c.804T= (p.His268=) | |
| 20 | g.45947404G>A | CA409230900 | PCIF1 | c.1849G>A (p.Glu617Lys) c.705G>A c.805G>A (p.Glu269Lys) | |
| 20 | g.45947404G>C | CA409230897 | PCIF1 | c.1849G>C (p.Glu617Gln) c.705G>C c.805G>C (p.Glu269Gln) | |
| 20 | g.45947404G>T | CA409230899 | PCIF1 | c.1849G>T (p.Glu617Ter) c.705G>T c.805G>T (p.Glu269Ter) | |
| 20 | g.45947405A>C | CA409230903 | PCIF1 | c.1850A>C (p.Glu617Ala) c.706A>C c.806A>C (p.Glu269Ala) | |
| 20 | g.45947405A>G | CA409230905 | PCIF1 | c.1850A>G (p.Glu617Gly) c.706A>G c.806A>G (p.Glu269Gly) | |
| 20 | g.45947405A>T | CA409230906 | PCIF1 | c.1850A>T (p.Glu617Val) c.706A>T c.806A>T (p.Glu269Val) | |
| 20 | g.45947406G>A | CA510753572 | PCIF1 | c.1851G>A (p.Glu617=) c.707G>A c.807G>A (p.Glu269=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947406G>C | CA409230907 | PCIF1 | c.1851G>C (p.Glu617Asp) c.707G>C c.807G>C (p.Glu269Asp) | |
| 20 | g.45947406G= | CA2366447725 | PCIF1 | c.1851G= (p.Glu617=) c.707G= c.807G= (p.Glu269=) | |
| 20 | g.45947406G>T | CA409230908 | PCIF1 | c.1851G>T (p.Glu617Asp) c.707G>T c.807G>T (p.Glu269Asp) | |
| 20 | g.45947407T>A | CA409230909 | PCIF1 | c.1852T>A (p.Tyr618Asn) c.708T>A c.808T>A (p.Tyr270Asn) | |
| 20 | g.45947407T>C | CA409230910 | PCIF1 | c.1852T>C (p.Tyr618His) c.708T>C c.808T>C (p.Tyr270His) | |
| 20 | g.45947407T>G | CA409230912 | PCIF1 | c.1852T>G (p.Tyr618Asp) c.708T>G c.808T>G (p.Tyr270Asp) | |
| 20 | g.45947408A>C | CA409230915 | PCIF1 | c.1853A>C (p.Tyr618Ser) c.709A>C c.809A>C (p.Tyr270Ser) | |
| 20 | g.45947408A>G | CA409230917 | PCIF1 | c.1853A>G (p.Tyr618Cys) c.709A>G c.809A>G (p.Tyr270Cys) | |
| 20 | g.45947408A>T | CA409230919 | PCIF1 | c.1853A>T (p.Tyr618Phe) c.709A>T c.809A>T (p.Tyr270Phe) | |
| 20 | g.45947409C>A | CA409230923 | PCIF1 | c.1854C>A (p.Tyr618Ter) c.710C>A c.810C>A (p.Tyr270Ter) | |
| 20 | g.45947409C>G | CA409230921 | PCIF1 | c.1854C>G (p.Tyr618Ter) c.710C>G c.810C>G (p.Tyr270Ter) | |
| 20 | g.45947409C>T | CA510753573 | PCIF1 | c.1854C>T (p.Tyr618=) c.710C>T c.810C>T (p.Tyr270=) | gnomAD v4 |
| 20 | g.45947410C>A | CA9884612 | PCIF1 | c.1855C>A (p.Arg619Ser) c.711C>A c.811C>A (p.Arg271Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947410C= | CA2366447726 | PCIF1 | c.1855C= (p.Arg619=) c.711C= c.811C= (p.Arg271=) | |
| 20 | g.45947410C>G | CA409230926 | PCIF1 | c.1855C>G (p.Arg619Gly) c.711C>G c.811C>G (p.Arg271Gly) | |
| 20 | g.45947410C>T | CA9884613 | PCIF1 | c.1855C>T (p.Arg619Cys) c.711C>T c.811C>T (p.Arg271Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947411G>A | CA409230929 | PCIF1 | c.1856G>A (p.Arg619His) c.712G>A c.812G>A (p.Arg271His) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947411G>C | CA409230931 | PCIF1 | c.1856G>C (p.Arg619Pro) c.712G>C c.812G>C (p.Arg271Pro) | |
| 20 | g.45947411G= | CA2366447727 | PCIF1 | c.1856G= (p.Arg619=) c.712G= c.812G= (p.Arg271=) | |
| 20 | g.45947411G>T | CA409230933 | PCIF1 | c.1856G>T (p.Arg619Leu) c.712G>T c.812G>T (p.Arg271Leu) | |
| 20 | g.45947412C>A | CA510753574 | PCIF1 | c.1857C>A (p.Arg619=) c.713C>A c.813C>A (p.Arg271=) | |
| 20 | g.45947412C>G | CA510753575 | PCIF1 | c.1857C>G (p.Arg619=) c.713C>G c.813C>G (p.Arg271=) | |
| 20 | g.45947412C>T | CA510753576 | PCIF1 | c.1857C>T (p.Arg619=) c.713C>T c.813C>T (p.Arg271=) | |
| 20 | g.45947413A= | CA2366447728 | PCIF1 | c.1858A= (p.Ser620=) c.714A= c.814A= (p.Ser272=) | |
| 20 | g.45947413A>C | CA409230935 | PCIF1 | c.1858A>C (p.Ser620Arg) c.714A>C c.814A>C (p.Ser272Arg) | gnomAD v4 |
| 20 | g.45947413A>G | CA409230937 | PCIF1 | c.1858A>G (p.Ser620Gly) c.714A>G c.814A>G (p.Ser272Gly) | |
| 20 | g.45947413A>T | CA9884614 | PCIF1 | c.1858A>T (p.Ser620Cys) c.714A>T c.814A>T (p.Ser272Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947414G>A | CA409230941 | PCIF1 | c.1859G>A (p.Ser620Asn) c.715G>A c.815G>A (p.Ser272Asn) | |
| 20 | g.45947414G>C | CA409230943 | PCIF1 | c.1859G>C (p.Ser620Thr) c.715G>C c.815G>C (p.Ser272Thr) | |
| 20 | g.45947414G>T | CA409230945 | PCIF1 | c.1859G>T (p.Ser620Ile) c.715G>T c.815G>T (p.Ser272Ile) | |
| 20 | g.45947415T>A | CA409230947 | PCIF1 | c.1860T>A (p.Ser620Arg) c.716T>A c.816T>A (p.Ser272Arg) | |
| 20 | g.45947415T>C | CA9884615 | PCIF1 | c.1860T>C (p.Ser620=) c.716T>C c.816T>C (p.Ser272=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947415T>G | CA409230946 | PCIF1 | c.1860T>G (p.Ser620Arg) c.716T>G c.816T>G (p.Ser272Arg) | |
| 20 | g.45947415T= | CA2366447729 | PCIF1 | c.1860T= (p.Ser620=) c.716T= c.816T= (p.Ser272=) | |
| 20 | g.45947416G>A | CA409230948 | PCIF1 | c.1861G>A (p.Gly621Ser) c.717G>A c.817G>A (p.Gly273Ser) | |
| 20 | g.45947416G>C | CA409230949 | PCIF1 | c.1861G>C (p.Gly621Arg) c.717G>C c.817G>C (p.Gly273Arg) | |
| 20 | g.45947416G>T | CA409230950 | PCIF1 | c.1861G>T (p.Gly621Cys) c.717G>T c.817G>T (p.Gly273Cys) | |
| 20 | g.45947417G>A | CA409230951 | PCIF1 | c.1862G>A (p.Gly621Asp) c.718G>A c.818G>A (p.Gly273Asp) | |
| 20 | g.45947417G>C | CA409230952 | PCIF1 | c.1862G>C (p.Gly621Ala) c.718G>C c.818G>C (p.Gly273Ala) | |
| 20 | g.45947417G>T | CA409230953 | PCIF1 | c.1862G>T (p.Gly621Val) c.718G>T c.818G>T (p.Gly273Val) | |
| 20 | g.45947418C>A | CA510753579 | PCIF1 | c.1863C>A (p.Gly621=) c.719C>A c.819C>A (p.Gly273=) | |
| 20 | g.45947418C= | CA2366447730 | PCIF1 | c.1863C= (p.Gly621=) c.719C= c.819C= (p.Gly273=) | |
| 20 | g.45947418C>G | CA510753580 | PCIF1 | c.1863C>G (p.Gly621=) c.719C>G c.819C>G (p.Gly273=) | |
| 20 | g.45947418C>T | CA510753582 | PCIF1 | c.1863C>T (p.Gly621=) c.719C>T c.819C>T (p.Gly273=) | gnomAD v4 |
| 20 | g.45947419T>A | CA409230955 | PCIF1 | c.1864T>A (p.Ser622Thr) c.720T>A c.820T>A (p.Ser274Thr) | |
| 20 | g.45947419T>C | CA409230957 | PCIF1 | c.1864T>C (p.Ser622Pro) c.720T>C c.820T>C (p.Ser274Pro) | |
| 20 | g.45947419T>G | CA409230958 | PCIF1 | c.1864T>G (p.Ser622Ala) c.720T>G c.820T>G (p.Ser274Ala) | |
| 20 | g.45947419dup | CA744844696 | PCIF1 | c.1864dup (p.Ser622PhefsTer?) c.720dup c.820dup (p.Ser274PhefsTer?) | dbSNP |
| 20 | g.45947420C>A | CA409230961 | PCIF1 | c.1865C>A (p.Ser622Tyr) c.721C>A c.821C>A (p.Ser274Tyr) | |
| 20 | g.45947420C>G | CA409230963 | PCIF1 | c.1865C>G (p.Ser622Cys) c.721C>G c.821C>G (p.Ser274Cys) | COSMIC |
| 20 | g.45947420C>T | CA409230965 | PCIF1 | c.1865C>T (p.Ser622Phe) c.721C>T c.821C>T (p.Ser274Phe) | |
| 20 | g.45947421C>A | CA510753583 | PCIF1 | c.1866C>A (p.Ser622=) c.722C>A c.822C>A (p.Ser274=) | |
| 20 | g.45947421C= | CA2366447731 | PCIF1 | c.1866C= (p.Ser622=) c.722C= c.822C= (p.Ser274=) | |
| 20 | g.45947421C>G | CA510753584 | PCIF1 | c.1866C>G (p.Ser622=) c.722C>G c.822C>G (p.Ser274=) | gnomAD v4 |
| 20 | g.45947421C>T | CA9884616 | PCIF1 | c.1866C>T (p.Ser622=) c.722C>T c.822C>T (p.Ser274=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947422C>A | CA315640933 | PCIF1 | c.1867C>A (p.Gln623Lys) c.723C>A c.823C>A (p.Gln275Lys) | dbSNP |
| 20 | g.45947422C= | CA2366447732 | PCIF1 | c.1867C= (p.Gln623=) c.723C= c.823C= (p.Gln275=) | |
| 20 | g.45947422C>G | CA409230971 | PCIF1 | c.1867C>G (p.Gln623Glu) c.723C>G c.823C>G (p.Gln275Glu) | |
| 20 | g.45947422C>T | CA409230968 | PCIF1 | c.1867C>T (p.Gln623Ter) c.723C>T c.823C>T (p.Gln275Ter) | |
| 20 | g.45947423A= | CA2366447733 | PCIF1 | c.1868A= (p.Gln623=) c.724A= c.824A= (p.Gln275=) | |
| 20 | g.45947423A>C | CA409230975 | PCIF1 | c.1868A>C (p.Gln623Pro) c.724A>C c.824A>C (p.Gln275Pro) | |
| 20 | g.45947423A>G | CA409230974 | PCIF1 | c.1868A>G (p.Gln623Arg) c.724A>G c.824A>G (p.Gln275Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947423A>T | CA409230977 | PCIF1 | c.1868A>T (p.Gln623Leu) c.724A>T c.824A>T (p.Gln275Leu) | |
| 20 | g.45947424G>A | CA510753586 | PCIF1 | c.1869G>A (p.Gln623=) c.725G>A c.825G>A (p.Gln275=) | |
| 20 | g.45947424G>C | CA409230979 | PCIF1 | c.1869G>C (p.Gln623His) c.725G>C c.825G>C (p.Gln275His) | |
| 20 | g.45947424G>T | CA409230980 | PCIF1 | c.1869G>T (p.Gln623His) c.725G>T c.825G>T (p.Gln275His) | |
| 20 | g.45947425C>A | CA409230982 | PCIF1 | c.1870C>A (p.His624Asn) c.726C>A c.826C>A (p.His276Asn) | |
| 20 | g.45947425C>G | CA409230983 | PCIF1 | c.1870C>G (p.His624Asp) c.726C>G c.826C>G (p.His276Asp) | |
| 20 | g.45947425C>T | CA409230985 | PCIF1 | c.1870C>T (p.His624Tyr) c.726C>T c.826C>T (p.His276Tyr) | |
| 20 | g.45947426A>C | CA409230987 | PCIF1 | c.1871A>C (p.His624Pro) c.727A>C c.827A>C (p.His276Pro) | |
| 20 | g.45947426A>G | CA409230989 | PCIF1 | c.1871A>G (p.His624Arg) c.727A>G c.827A>G (p.His276Arg) | |
| 20 | g.45947426A>T | CA409230991 | PCIF1 | c.1871A>T (p.His624Leu) c.727A>T c.827A>T (p.His276Leu) | |
| 20 | g.45947427C>A | CA409230993 | PCIF1 | c.1872C>A (p.His624Gln) c.728C>A c.828C>A (p.His276Gln) | |
| 20 | g.45947427C= | CA2366447734 | PCIF1 | c.1872C= (p.His624=) c.728C= c.828C= (p.His276=) | |
| 20 | g.45947427C>G | CA409230995 | PCIF1 | c.1872C>G (p.His624Gln) c.728C>G c.828C>G (p.His276Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947427C>T | CA9884617 | PCIF1 | c.1872C>T (p.His624=) c.728C>T c.828C>T (p.His276=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947428A= | CA2366447735 | PCIF1 | c.1873A= (p.Ile625=) c.729A= c.829A= (p.Ile277=) | |
| 20 | g.45947428A>C | CA409231003 | PCIF1 | c.1873A>C (p.Ile625Leu) c.729A>C c.829A>C (p.Ile277Leu) | |
| 20 | g.45947428A>G | CA409231001 | PCIF1 | c.1873A>G (p.Ile625Val) c.729A>G c.829A>G (p.Ile277Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947428A>T | CA409230998 | PCIF1 | c.1873A>T (p.Ile625Phe) c.729A>T c.829A>T (p.Ile277Phe) | |
| 20 | g.45947429T>A | CA409231005 | PCIF1 | c.1874T>A (p.Ile625Asn) c.730T>A c.830T>A (p.Ile277Asn) | |
| 20 | g.45947429T>C | CA409231006 | PCIF1 | c.1874T>C (p.Ile625Thr) c.730T>C c.830T>C (p.Ile277Thr) | gnomAD v4 |
| 20 | g.45947429T>G | CA409231008 | PCIF1 | c.1874T>G (p.Ile625Ser) c.730T>G c.830T>G (p.Ile277Ser) | |
| 20 | g.45947430C>A | CA510753569 | PCIF1 | c.1875C>A (p.Ile625=) c.731C>A c.831C>A (p.Ile277=) | |
| 20 | g.45947430C= | CA2366447736 | PCIF1 | c.1875C= (p.Ile625=) c.731C= c.831C= (p.Ile277=) | |
| 20 | g.45947430C>G | CA409231009 | PCIF1 | c.1875C>G (p.Ile625Met) c.731C>G c.831C>G (p.Ile277Met) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947430C>T | CA510753570 | PCIF1 | c.1875C>T (p.Ile625=) c.731C>T c.831C>T (p.Ile277=) | |
| 20 | g.45947431T>A | CA409231012 | PCIF1 | c.1876T>A (p.Cys626Ser) c.732T>A c.832T>A (p.Cys278Ser) | |
| 20 | g.45947431T>C | CA409231014 | PCIF1 | c.1876T>C (p.Cys626Arg) c.732T>C c.832T>C (p.Cys278Arg) | |
| 20 | g.45947431T>G | CA409231015 | PCIF1 | c.1876T>G (p.Cys626Gly) c.732T>G c.832T>G (p.Cys278Gly) | |
| 20 | g.45947432G>A | CA409231017 | PCIF1 | c.1877G>A (p.Cys626Tyr) c.733G>A c.833G>A (p.Cys278Tyr) | |
| 20 | g.45947432G>C | CA9884618 | PCIF1 | c.1877G>C (p.Cys626Ser) c.733G>C c.833G>C (p.Cys278Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947432G= | CA2366447737 | PCIF1 | c.1877G= (p.Cys626=) c.733G= c.833G= (p.Cys278=) | |
| 20 | g.45947432G>T | CA409231020 | PCIF1 | c.1877G>T (p.Cys626Phe) c.733G>T c.833G>T (p.Cys278Phe) | |
| 20 | g.45947433C>A | CA409231022 | PCIF1 | c.1878C>A (p.Cys626Ter) c.734C>A c.834C>A (p.Cys278Ter) | |
| 20 | g.45947433C>G | CA409231025 | PCIF1 | c.1878C>G (p.Cys626Trp) c.734C>G c.834C>G (p.Cys278Trp) | |
| 20 | g.45947433C>T | CA510753571 | PCIF1 | c.1878C>T (p.Cys626=) c.734C>T c.834C>T (p.Cys278=) | |
| 20 | g.45947433_45947436delinsCAAG | CA2366447738 | PCIF1 | c.1878_1881delinsCAAG (p.Cys626=) c.734_737delinsCAAG c.834_837delinsCAAG (p.Cys278=) | |
| 20 | g.45947434A= | CA2366447739 | PCIF1 | c.1879A= (p.Lys627=) c.735A= c.835A= (p.Lys279=) | |
| 20 | g.45947434A>C | CA9884619 | PCIF1 | c.1879A>C (p.Lys627Gln) c.735A>C c.835A>C (p.Lys279Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947434A>G | CA409231030 | PCIF1 | c.1879A>G (p.Lys627Glu) c.735A>G c.835A>G (p.Lys279Glu) | |
| 20 | g.45947434A>T | CA409231027 | PCIF1 | c.1879A>T (p.Lys627Ter) c.735A>T c.835A>T (p.Lys279Ter) | |
| 20 | g.45947437_45947439del | CA920221984 | PCIF1 | c.1882_1883+1del c.738_740del c.838_839+1del | dbSNP gnomAD v4 |
| 20 | g.45947435A>C | CA409231032 | PCIF1 | c.1880A>C (p.Lys627Thr) c.736A>C c.836A>C (p.Lys279Thr) | |
| 20 | g.45947435A>G | CA409231034 | PCIF1 | c.1880A>G (p.Lys627Arg) c.736A>G c.836A>G (p.Lys279Arg) | |
| 20 | g.45947435A>T | CA409231036 | PCIF1 | c.1880A>T (p.Lys627Met) c.736A>T c.836A>T (p.Lys279Met) | |
| 20 | g.45947436G>A | CA9884620 | PCIF1 | c.1881G>A (p.Lys627=) c.737G>A c.837G>A (p.Lys279=) | dbSNP ExAC gnomAD v2 |
| 20 | g.45947436G>C | CA9884621 | PCIF1 | c.1881G>C (p.Lys627Asn) c.737G>C c.837G>C (p.Lys279Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947436G= | CA2366447740 | PCIF1 | c.1881G= (p.Lys627=) c.737G= c.837G= (p.Lys279=) | |
| 20 | g.45947436G>T | CA409231039 | PCIF1 | c.1881G>T (p.Lys627Asn) c.737G>T c.837G>T (p.Lys279Asn) | |
| 20 | g.45947437A>C | CA409231040 | PCIF1 | c.1882A>C (p.Lys628Gln) c.738A>C c.838A>C (p.Lys280Gln) | ClinVar |
| 20 | g.45947437A>G | CA409231042 | PCIF1 | c.1882A>G (p.Lys628Glu) c.738A>G c.838A>G (p.Lys280Glu) | |
| 20 | g.45947437A>T | CA409231043 | PCIF1 | c.1882A>T (p.Lys628Ter) c.738A>T c.838A>T (p.Lys280Ter) | |
| 20 | g.45947438A>C | CA409231046 | PCIF1 | c.1883A>C (p.Lys628Thr) c.739A>C c.839A>C (p.Lys280Thr) | |
| 20 | g.45947438A>G | CA409231048 | PCIF1 | c.1883A>G (p.Lys628Arg) c.739A>G c.839A>G (p.Lys280Arg) | |
| 20 | g.45947438A>T | CA409231049 | PCIF1 | c.1883A>T (p.Lys628Met) c.739A>T c.839A>T (p.Lys280Met) | |
| 20 | g.45947439G>A | CA409231054 | PCIF1 | c.1883+1G>A (n.1883+1G>A) c.740G>A c.839+1G>A (n.839+1G>A) | |
| 20 | g.45947439G>C | CA409231055 | PCIF1 | c.1883+1G>C (n.1883+1G>C) c.740G>C c.839+1G>C (n.839+1G>C) | |
| 20 | g.45947439G>T | CA409231052 | PCIF1 | c.1883+1G>T (n.1883+1G>T) c.740G>T c.839+1G>T (n.839+1G>T) | |
| 20 | g.45947440T>A | CA409231058 | PCIF1 | c.1883+2T>A (n.1883+2T>A) c.741T>A c.839+2T>A (n.839+2T>A) | |
| 20 | g.45947440T>C | CA409231060 | PCIF1 | c.1883+2T>C (n.1883+2T>C) c.741T>C c.839+2T>C (n.839+2T>C) | |
| 20 | g.45947440T>G | CA409231062 | PCIF1 | c.1883+2T>G (n.1883+2T>G) c.741T>G c.839+2T>G (n.839+2T>G) | |
| 20 | g.45947441G>A | CA744844747 | PCIF1 | c.1883+3G>A (n.1883+3G>A) c.742G>A c.839+3G>A (n.839+3G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947441G= | CA2366447741 | PCIF1 | c.1883+3G= (n.1883+3G=) c.742G= c.839+3G= (n.839+3G=) | |
| 20 | g.45947442G>A | CA2577413317 | PCIF1 | c.1883+4G>A (n.1883+4G>A) c.743G>A c.839+4G>A (n.839+4G>A) | |
| 20 | g.45947444T>C | CA2653107349 | PCIF1 | c.1883+6T>C (n.1883+6T>C) c.745T>C c.839+6T>C (n.839+6T>C) | gnomAD v4 |
| 20 | g.45947444T>G | CA2366447743 | PCIF1 | c.1883+6T>G (n.1883+6T>G) c.745T>G c.839+6T>G (n.839+6T>G) | dbSNP |
| 20 | g.45947444T= | CA2366447742 | PCIF1 | c.1883+6T= (n.1883+6T=) c.745T= c.839+6T= (n.839+6T=) | |
| 20 | g.45947446C= | CA2366447744 | PCIF1 | c.1883+8C= (n.1883+8C=) c.747C= c.839+8C= (n.839+8C=) | |
| 20 | g.45947446C>T | CA636176156 | PCIF1 | c.1883+8C>T (n.1883+8C>T) c.747C>T c.839+8C>T (n.839+8C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947449G>C | CA315640938 | PCIF1 | c.1883+11G>C (n.1883+11G>C) c.750G>C c.839+11G>C (n.839+11G>C) | dbSNP gnomAD v4 |
| 20 | g.45947449G= | CA2366447745 | PCIF1 | c.1883+11G= (n.1883+11G=) c.750G= c.839+11G= (n.839+11G=) | |
| 20 | g.45947450G>A | CA2653107351 | PCIF1 | c.1883+12G>A (n.1883+12G>A) c.751G>A c.839+12G>A (n.839+12G>A) | gnomAD v4 |
| 20 | g.45947451G>C | CA636176157 | PCIF1 | c.1883+13G>C (n.1883+13G>C) c.752G>C c.839+13G>C (n.839+13G>C) | dbSNP gnomAD v2 |
| 20 | g.45947451G= | CA2366447746 | PCIF1 | c.1883+13G= (n.1883+13G=) c.752G= c.839+13G= (n.839+13G=) | |
| 20 | g.45947452A>T | CA2653107352 | PCIF1 | c.1883+14A>T (n.1883+14A>T) c.753A>T c.839+14A>T (n.839+14A>T) | gnomAD v4 |
| 20 | g.45947453G>A | CA2577413318 | PCIF1 | c.1883+15G>A (n.1883+15G>A) c.754G>A c.839+15G>A (n.839+15G>A) | |
| 20 | g.45947454G>A | CA636176158 | PCIF1 | c.1883+16G>A (n.1883+16G>A) c.755G>A c.839+16G>A (n.839+16G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947454G= | CA2366447747 | PCIF1 | c.1883+16G= (n.1883+16G=) c.755G= c.839+16G= (n.839+16G=) | |
| 20 | g.45947456C= | CA2366447748 | PCIF1 | c.1883+18C= (n.1883+18C=) c.757C= c.839+18C= (n.839+18C=) | |
| 20 | g.45947456C>T | CA2653107353 | PCIF1 | c.1883+18C>T (n.1883+18C>T) c.757C>T c.839+18C>T (n.839+18C>T) | gnomAD v4 |
| 20 | g.45947457A>G | CA2653107354 | PCIF1 | c.1883+19A>G (n.1883+19A>G) c.758A>G c.839+19A>G (n.839+19A>G) | gnomAD v4 |
| 20 | g.45947457dup | CA9884622 | PCIF1 | c.1883+19dup (n.1883+19dup) c.758dup c.839+19dup (n.839+19dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947458G>A | CA2653107356 | PCIF1 | c.1883+20G>A (n.1883+20G>A) c.759G>A c.839+20G>A (n.839+20G>A) | gnomAD v4 |
| 20 | g.45947459G>A | CA2577413319 | PCIF1 | c.1883+21G>A (n.1883+21G>A) c.760G>A c.839+21G>A (n.839+21G>A) | |
| 20 | g.45947460G>C | CA636176159 | PCIF1 | c.1883+22G>C (n.1883+22G>C) c.761G>C c.839+22G>C (n.839+22G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947460G= | CA2366447749 | PCIF1 | c.1883+22G= (n.1883+22G=) c.761G= c.839+22G= (n.839+22G=) | |
| 20 | g.45947461G= | CA2366447750 | PCIF1 | c.1883+23G= (n.1883+23G=) c.762G= c.839+23G= (n.839+23G=) | |
| 20 | g.45947461G>T | CA9884623 | PCIF1 | c.1883+23G>T (n.1883+23G>T) c.762G>T c.839+23G>T (n.839+23G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947463A= | CA2366447751 | PCIF1 | c.1883+25A= (n.1883+25A=) c.764A= c.839+25A= (n.839+25A=) | |
| 20 | g.45947463A>C | CA2816513948 | PCIF1 | c.1883+25A>C (n.1883+25A>C) c.764A>C c.839+25A>C (n.839+25A>C) | |
| 20 | g.45947463A>G | CA9884624 | PCIF1 | c.1883+25A>G (n.1883+25A>G) c.764A>G c.839+25A>G (n.839+25A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947465G>A | CA2816513949 | PCIF1 | c.1883+27G>A (n.1883+27G>A) c.766G>A c.839+27G>A (n.839+27G>A) | |
| 20 | g.45947466A= | CA2366447752 | PCIF1 | c.1883+28A= (n.1883+28A=) c.767A= c.839+28A= (n.839+28A=) | |
| 20 | g.45947466A>C | CA2736988025 | PCIF1 | c.1883+28A>C (n.1883+28A>C) c.767A>C c.839+28A>C (n.839+28A>C) | dbSNP |
| 20 | g.45947466A>G | CA2577413320 | PCIF1 | c.1883+28A>G (n.1883+28A>G) c.767A>G c.839+28A>G (n.839+28A>G) | |
| 20 | g.45947467G>A | CA9884625 | PCIF1 | c.1883+29G>A (n.1883+29G>A) c.768G>A c.839+29G>A (n.839+29G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947467G= | CA2366447753 | PCIF1 | c.1883+29G= (n.1883+29G=) c.768G= c.839+29G= (n.839+29G=) | |
| 20 | g.45947473_45947477dup | CA1017930042 | PCIF1 | c.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 |
| 20 | g.45947468G>A | CA636176160 | PCIF1 | c.1883+30G>A (n.1883+30G>A) c.769G>A c.839+30G>A (n.839+30G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947468G>C | CA2577413321 | PCIF1 | c.1883+30G>C (n.1883+30G>C) c.769G>C c.839+30G>C (n.839+30G>C) | |
| 20 | g.45947468G= | CA2366447754 | PCIF1 | c.1883+30G= (n.1883+30G=) c.769G= c.839+30G= (n.839+30G=) | |
| 20 | g.45947469C= | CA2366447755 | PCIF1 | c.1883+31C= (n.1883+31C=) c.770C= c.839+31C= (n.839+31C=) | |
| 20 | g.45947469C>G | CA744844769 | PCIF1 | c.1883+31C>G (n.1883+31C>G) c.770C>G c.839+31C>G (n.839+31C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947469C>T | CA2653107357 | PCIF1 | c.1883+31C>T (n.1883+31C>T) c.770C>T c.839+31C>T (n.839+31C>T) | dbSNP gnomAD v4 |
| 20 | g.45947470T>G | CA2366447757 | PCIF1 | c.1883+32T>G (n.1883+32T>G) c.771T>G c.839+32T>G (n.839+32T>G) | dbSNP |
| 20 | g.45947470T= | CA2366447756 | PCIF1 | c.1883+32T= (n.1883+32T=) c.771T= c.839+32T= (n.839+32T=) | |
| 20 | g.45947471G>A | CA2653107358 | PCIF1 | c.1883+33G>A (n.1883+33G>A) c.772G>A c.839+33G>A (n.839+33G>A) | gnomAD v4 |
| 20 | g.45947472G>A | CA2653107359 | PCIF1 | c.1883+34G>A (n.1883+34G>A) c.773G>A c.839+34G>A (n.839+34G>A) | gnomAD v4 |
| 20 | g.45947473G>C | CA2577413322 | PCIF1 | c.1883+35G>C (n.1883+35G>C) c.774G>C c.839+35G>C (n.839+35G>C) | |
| 20 | g.45947473G>T | CA2653107360 | PCIF1 | c.1883+35G>T (n.1883+35G>T) c.774G>T c.839+35G>T (n.839+35G>T) | gnomAD v4 |