Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.45947319G>ACA409230477PCIF1c.1764G>A (p.Trp588Ter)
c.620G>A
c.720G>A (p.Trp240Ter)
20g.45947319G>CCA409230484PCIF1c.1764G>C (p.Trp588Cys)
c.620G>C
c.720G>C (p.Trp240Cys)
20g.45947319G>TCA409230487PCIF1c.1764G>T (p.Trp588Cys)
c.620G>T
c.720G>T (p.Trp240Cys)
20g.45947320C>ACA510753434PCIF1c.1765C>A (p.Arg589=)
c.621C>A
c.721C>A (p.Arg241=)
20g.45947320C=CA2366447679PCIF1c.1765C= (p.Arg589=)
c.621C=
c.721C= (p.Arg241=)
20g.45947320C>GCA409230490PCIF1c.1765C>G (p.Arg589Gly)
c.621C>G
c.721C>G (p.Arg241Gly)
20g.45947320C>TCA409230492PCIF1c.1765C>T (p.Arg589Trp)
c.621C>T
c.721C>T (p.Arg241Trp)
 dbSNP gnomAD v2 gnomAD v4
20g.45947321G>ACA9884589PCIF1c.1766G>A (p.Arg589Gln)
c.622G>A
c.722G>A (p.Arg241Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947321G>CCA409230497PCIF1c.1766G>C (p.Arg589Pro)
c.622G>C
c.722G>C (p.Arg241Pro)
20g.45947321G=CA2366447680PCIF1c.1766G= (p.Arg589=)
c.622G=
c.722G= (p.Arg241=)
20g.45947321G>TCA409230500PCIF1c.1766G>T (p.Arg589Leu)
c.622G>T
c.722G>T (p.Arg241Leu)
20g.45947322G>ACA510753440PCIF1c.1767G>A (p.Arg589=)
c.623G>A
c.723G>A (p.Arg241=)
20g.45947322G>CCA510753439PCIF1c.1767G>C (p.Arg589=)
c.623G>C
c.723G>C (p.Arg241=)
20g.45947322G>TCA510753437PCIF1c.1767G>T (p.Arg589=)
c.623G>T
c.723G>T (p.Arg241=)
20g.45947323G>ACA409230504PCIF1c.1768G>A (p.Glu590Lys)
c.624G>A
c.724G>A (p.Glu242Lys)
 COSMIC
20g.45947323G>CCA409230506PCIF1c.1768G>C (p.Glu590Gln)
c.624G>C
c.724G>C (p.Glu242Gln)
20g.45947323G>TCA409230509PCIF1c.1768G>T (p.Glu590Ter)
c.624G>T
c.724G>T (p.Glu242Ter)
20g.45947324A=CA2366447681PCIF1c.1769A= (p.Glu590=)
c.625A=
c.725A= (p.Glu242=)
20g.45947324A>CCA409230515PCIF1c.1769A>C (p.Glu590Ala)
c.625A>C
c.725A>C (p.Glu242Ala)
20g.45947324A>GCA315640794PCIF1c.1769A>G (p.Glu590Gly)
c.625A>G
c.725A>G (p.Glu242Gly)
 dbSNP gnomAD v4
20g.45947324A>TCA409230512PCIF1c.1769A>T (p.Glu590Val)
c.625A>T
c.725A>T (p.Glu242Val)
 gnomAD v4
20g.45947325A=CA2366447682PCIF1c.1770A= (p.Glu590=)
c.626A=
c.726A= (p.Glu242=)
20g.45947325A>CCA409230517PCIF1c.1770A>C (p.Glu590Asp)
c.626A>C
c.726A>C (p.Glu242Asp)
 dbSNP
20g.45947325A>GCA510753443PCIF1c.1770A>G (p.Glu590=)
c.626A>G
c.726A>G (p.Glu242=)
20g.45947325A>TCA409230519PCIF1c.1770A>T (p.Glu590Asp)
c.626A>T
c.726A>T (p.Glu242Asp)
20g.45947326C>ACA409230520PCIF1c.1771C>A (p.Pro591Thr)
c.627C>A
c.727C>A (p.Pro243Thr)
 gnomAD v4
20g.45947326C>GCA409230521PCIF1c.1771C>G (p.Pro591Ala)
c.627C>G
c.727C>G (p.Pro243Ala)
20g.45947326C>TCA409230522PCIF1c.1771C>T (p.Pro591Ser)
c.627C>T
c.727C>T (p.Pro243Ser)
20g.45947327C>ACA409230526PCIF1c.1772C>A (p.Pro591His)
c.628C>A
c.728C>A (p.Pro243His)
 dbSNP gnomAD v4
20g.45947327C=CA2366447683PCIF1c.1772C= (p.Pro591=)
c.628C=
c.728C= (p.Pro243=)
20g.45947327C>GCA409230528PCIF1c.1772C>G (p.Pro591Arg)
c.628C>G
c.728C>G (p.Pro243Arg)
 dbSNP
20g.45947327C>TCA409230531PCIF1c.1772C>T (p.Pro591Leu)
c.628C>T
c.728C>T (p.Pro243Leu)
20g.45947328C>ACA510753447PCIF1c.1773C>A (p.Pro591=)
c.629C>A
c.729C>A (p.Pro243=)
20g.45947328C>GCA510753448PCIF1c.1773C>G (p.Pro591=)
c.629C>G
c.729C>G (p.Pro243=)
 gnomAD v4
20g.45947328C>TCA510753449PCIF1c.1773C>T (p.Pro591=)
c.629C>T
c.729C>T (p.Pro243=)
 gnomAD v4
20g.45947329C>ACA409230536PCIF1c.1774C>A (p.Pro592Thr)
c.630C>A
c.730C>A (p.Pro244Thr)
20g.45947329C=CA2366447684PCIF1c.1774C= (p.Pro592=)
c.630C=
c.730C= (p.Pro244=)
20g.45947329C>GCA409230540PCIF1c.1774C>G (p.Pro592Ala)
c.630C>G
c.730C>G (p.Pro244Ala)
 dbSNP gnomAD v2 gnomAD v4
20g.45947329C>TCA409230542PCIF1c.1774C>T (p.Pro592Ser)
c.630C>T
c.730C>T (p.Pro244Ser)
20g.45947330C>ACA409230545PCIF1c.1775C>A (p.Pro592Gln)
c.631C>A
c.731C>A (p.Pro244Gln)
20g.45947330C=CA2366447685PCIF1c.1775C= (p.Pro592=)
c.631C=
c.731C= (p.Pro244=)
20g.45947330C>GCA315640797PCIF1c.1775C>G (p.Pro592Arg)
c.631C>G
c.731C>G (p.Pro244Arg)
 dbSNP gnomAD v3 gnomAD v4
20g.45947330C>TCA409230549PCIF1c.1775C>T (p.Pro592Leu)
c.631C>T
c.731C>T (p.Pro244Leu)
20g.45947331A>CCA510753451PCIF1c.1776A>C (p.Pro592=)
c.632A>C
c.732A>C (p.Pro244=)
 dbSNP gnomAD v4
20g.45947331A>GCA510753453PCIF1c.1776A>G (p.Pro592=)
c.632A>G
c.732A>G (p.Pro244=)
 gnomAD v4
20g.45947331A>TCA510753455PCIF1c.1776A>T (p.Pro592=)
c.632A>T
c.732A>T (p.Pro244=)
20g.45947332A=CA2366447686PCIF1c.1777A= (p.Thr593=)
c.633A=
c.733A= (p.Thr245=)
20g.45947332A>CCA409230557PCIF1c.1777A>C (p.Thr593Pro)
c.633A>C
c.733A>C (p.Thr245Pro)
20g.45947332A>GCA409230559PCIF1c.1777A>G (p.Thr593Ala)
c.633A>G
c.733A>G (p.Thr245Ala)
 gnomAD v4
20g.45947332A>TCA409230553PCIF1c.1777A>T (p.Thr593Ser)
c.633A>T
c.733A>T (p.Thr245Ser)
 dbSNP
20g.45947333C>ACA409230561PCIF1c.1778C>A (p.Thr593Lys)
c.634C>A
c.734C>A (p.Thr245Lys)
20g.45947333C>GCA409230564PCIF1c.1778C>G (p.Thr593Arg)
c.634C>G
c.734C>G (p.Thr245Arg)
20g.45947333C>TCA409230565PCIF1c.1778C>T (p.Thr593Ile)
c.634C>T
c.734C>T (p.Thr245Ile)
20g.45947334A=CA2366447687PCIF1c.1779A= (p.Thr593=)
c.635A=
c.735A= (p.Thr245=)
20g.45947334A>CCA510753457PCIF1c.1779A>C (p.Thr593=)
c.635A>C
c.735A>C (p.Thr245=)
 dbSNP
20g.45947334A>GCA9884590PCIF1c.1779A>G (p.Thr593=)
c.635A>G
c.735A>G (p.Thr245=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947334A>TCA510753458PCIF1c.1779A>T (p.Thr593=)
c.635A>T
c.735A>T (p.Thr245=)
20g.45947335C>ACA409230577PCIF1c.1780C>A (p.Pro594Thr)
c.636C>A
c.736C>A (p.Pro246Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.45947335C=CA2366447688PCIF1c.1780C= (p.Pro594=)
c.636C=
c.736C= (p.Pro246=)
20g.45947335C>GCA409230580PCIF1c.1780C>G (p.Pro594Ala)
c.636C>G
c.736C>G (p.Pro246Ala)
 dbSNP gnomAD v2 gnomAD v4
20g.45947335C>TCA409230582PCIF1c.1780C>T (p.Pro594Ser)
c.636C>T
c.736C>T (p.Pro246Ser)
20g.45947336C>ACA409230586PCIF1c.1781C>A (p.Pro594Gln)
c.637C>A
c.737C>A (p.Pro246Gln)
20g.45947336C=CA2366447689PCIF1c.1781C= (p.Pro594=)
c.637C=
c.737C= (p.Pro246=)
20g.45947336C>GCA409230591PCIF1c.1781C>G (p.Pro594Arg)
c.637C>G
c.737C>G (p.Pro246Arg)
 dbSNP gnomAD v2 gnomAD v4
20g.45947336C>TCA409230589PCIF1c.1781C>T (p.Pro594Leu)
c.637C>T
c.737C>T (p.Pro246Leu)
20g.45947337A=CA2366447690PCIF1c.1782A= (p.Pro594=)
c.638A=
c.738A= (p.Pro246=)
20g.45947337A>CCA510753463PCIF1c.1782A>C (p.Pro594=)
c.638A>C
c.738A>C (p.Pro246=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.45947337A>GCA9884591PCIF1c.1782A>G (p.Pro594=)
c.638A>G
c.738A>G (p.Pro246=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947337A>TCA510753464PCIF1c.1782A>T (p.Pro594=)
c.638A>T
c.738A>T (p.Pro246=)
20g.45947338G>ACA409230595PCIF1c.1783G>A (p.Ala595Thr)
c.639G>A
c.739G>A (p.Ala247Thr)
20g.45947338G>CCA409230597PCIF1c.1783G>C (p.Ala595Pro)
c.639G>C
c.739G>C (p.Ala247Pro)
20g.45947338G>TCA409230598PCIF1c.1783G>T (p.Ala595Ser)
c.639G>T
c.739G>T (p.Ala247Ser)
20g.45947339C>ACA409230602PCIF1c.1784C>A (p.Ala595Glu)
c.640C>A
c.740C>A (p.Ala247Glu)
20g.45947339C=CA2366447691PCIF1c.1784C= (p.Ala595=)
c.640C=
c.740C= (p.Ala247=)
20g.45947339C>GCA409230605PCIF1c.1784C>G (p.Ala595Gly)
c.640C>G
c.740C>G (p.Ala247Gly)
20g.45947339C>TCA9884592PCIF1c.1784C>T (p.Ala595Val)
c.640C>T
c.740C>T (p.Ala247Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947340G>ACA9884593PCIF1c.1785G>A (p.Ala595=)
c.641G>A
c.741G>A (p.Ala247=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947340G>CCA510753470PCIF1c.1785G>C (p.Ala595=)
c.641G>C
c.741G>C (p.Ala247=)
20g.45947340G=CA2366447692PCIF1c.1785G= (p.Ala595=)
c.641G=
c.741G= (p.Ala247=)
20g.45947340G>TCA510753468PCIF1c.1785G>T (p.Ala595=)
c.641G>T
c.741G>T (p.Ala247=)
20g.45947341C>ACA409230611PCIF1c.1786C>A (p.Leu596Ile)
c.642C>A
c.742C>A (p.Leu248Ile)
20g.45947341C>GCA409230613PCIF1c.1786C>G (p.Leu596Val)
c.642C>G
c.742C>G (p.Leu248Val)
20g.45947341C>TCA409230616PCIF1c.1786C>T (p.Leu596Phe)
c.642C>T
c.742C>T (p.Leu248Phe)
20g.45947342T>ACA409230619PCIF1c.1787T>A (p.Leu596His)
c.643T>A
c.743T>A (p.Leu248His)
20g.45947342T>CCA409230620PCIF1c.1787T>C (p.Leu596Pro)
c.643T>C
c.743T>C (p.Leu248Pro)
20g.45947342T>GCA409230624PCIF1c.1787T>G (p.Leu596Arg)
c.643T>G
c.743T>G (p.Leu248Arg)
20g.45947343C>ACA510753472PCIF1c.1788C>A (p.Leu596=)
c.644C>A
c.744C>A (p.Leu248=)
 dbSNP gnomAD v2 gnomAD v4
20g.45947343C=CA2366447693PCIF1c.1788C= (p.Leu596=)
c.644C=
c.744C= (p.Leu248=)
20g.45947343C>GCA510753473PCIF1c.1788C>G (p.Leu596=)
c.644C>G
c.744C>G (p.Leu248=)
20g.45947343C>TCA9884594PCIF1c.1788C>T (p.Leu596=)
c.644C>T
c.744C>T (p.Leu248=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947344A=CA2366447694PCIF1c.1789A= (p.Thr597=)
c.645A=
c.745A= (p.Thr249=)
20g.45947344A>CCA409230627PCIF1c.1789A>C (p.Thr597Pro)
c.645A>C
c.745A>C (p.Thr249Pro)
 dbSNP
20g.45947344A>GCA409230628PCIF1c.1789A>G (p.Thr597Ala)
c.645A>G
c.745A>G (p.Thr249Ala)
20g.45947344A>TCA409230629PCIF1c.1789A>T (p.Thr597Ser)
c.645A>T
c.745A>T (p.Thr249Ser)
20g.45947345C>ACA409230632PCIF1c.1790C>A (p.Thr597Asn)
c.646C>A
c.746C>A (p.Thr249Asn)
20g.45947345C=CA2366447695PCIF1c.1790C= (p.Thr597=)
c.646C=
c.746C= (p.Thr249=)
20g.45947345C>GCA409230635PCIF1c.1790C>G (p.Thr597Ser)
c.646C>G
c.746C>G (p.Thr249Ser)
20g.45947345C>TCA315640817PCIF1c.1790C>T (p.Thr597Ile)
c.646C>T
c.746C>T (p.Thr249Ile)
 dbSNP
20g.45947346C>ACA510753480PCIF1c.1791C>A (p.Thr597=)
c.647C>A
c.747C>A (p.Thr249=)
20g.45947346C>GCA510753484PCIF1c.1791C>G (p.Thr597=)
c.647C>G
c.747C>G (p.Thr249=)
20g.45947346C>TCA510753482PCIF1c.1791C>T (p.Thr597=)
c.647C>T
c.747C>T (p.Thr249=)
20g.45947347C>ACA315640836PCIF1c.1792C>A (p.Arg598Ser)
c.648C>A
c.748C>A (p.Arg250Ser)
 dbSNP gnomAD v4
20g.45947347C=CA2366447696PCIF1c.1792C= (p.Arg598=)
c.648C=
c.748C= (p.Arg250=)
20g.45947347C>GCA409230641PCIF1c.1792C>G (p.Arg598Gly)
c.648C>G
c.748C>G (p.Arg250Gly)
 dbSNP gnomAD v4
20g.45947347C>TCA9884595PCIF1c.1792C>T (p.Arg598Cys)
c.648C>T
c.748C>T (p.Arg250Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947348G>ACA9884596PCIF1c.1793G>A (p.Arg598His)
c.649G>A
c.749G>A (p.Arg250His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947348G>CCA409230646PCIF1c.1793G>C (p.Arg598Pro)
c.649G>C
c.749G>C (p.Arg250Pro)
20g.45947348G=CA2366447697PCIF1c.1793G= (p.Arg598=)
c.649G=
c.749G= (p.Arg250=)
20g.45947348G>TCA409230649PCIF1c.1793G>T (p.Arg598Leu)
c.649G>T
c.749G>T (p.Arg250Leu)
20g.45947349C>ACA510753487PCIF1c.1794C>A (p.Arg598=)
c.650C>A
c.750C>A (p.Arg250=)
20g.45947349C>GCA510753489PCIF1c.1794C>G (p.Arg598=)
c.650C>G
c.750C>G (p.Arg250=)
20g.45947349C>TCA510753490PCIF1c.1794C>T (p.Arg598=)
c.650C>T
c.750C>T (p.Arg250=)
 gnomAD v4
20g.45947350A=CA2366447698PCIF1c.1795A= (p.Met599=)
c.651A=
c.751A= (p.Met251=)
20g.45947350A>CCA409230653PCIF1c.1795A>C (p.Met599Leu)
c.651A>C
c.751A>C (p.Met251Leu)
20g.45947350A>GCA9884597PCIF1c.1795A>G (p.Met599Val)
c.651A>G
c.751A>G (p.Met251Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947350A>TCA409230657PCIF1c.1795A>T (p.Met599Leu)
c.651A>T
c.751A>T (p.Met251Leu)
20g.45947351T>ACA409230661PCIF1c.1796T>A (p.Met599Lys)
c.652T>A
c.752T>A (p.Met251Lys)
20g.45947351T>CCA9884598PCIF1c.1796T>C (p.Met599Thr)
c.652T>C
c.752T>C (p.Met251Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947351T>GCA409230662PCIF1c.1796T>G (p.Met599Arg)
c.652T>G
c.752T>G (p.Met251Arg)
20g.45947351T=CA2366447699PCIF1c.1796T= (p.Met599=)
c.652T=
c.752T= (p.Met251=)
20g.45947352G>ACA409230666PCIF1c.1797G>A (p.Met599Ile)
c.653G>A
c.753G>A (p.Met251Ile)
20g.45947352G>CCA409230667PCIF1c.1797G>C (p.Met599Ile)
c.653G>C
c.753G>C (p.Met251Ile)
20g.45947352G>TCA409230669PCIF1c.1797G>T (p.Met599Ile)
c.653G>T
c.753G>T (p.Met251Ile)
20g.45947353G>ACA409230675PCIF1c.1798G>A (p.Glu600Lys)
c.654G>A
c.754G>A (p.Glu252Lys)
 gnomAD v4
20g.45947353G>CCA409230671PCIF1c.1798G>C (p.Glu600Gln)
c.654G>C
c.754G>C (p.Glu252Gln)
 gnomAD v4
20g.45947353G>TCA409230673PCIF1c.1798G>T (p.Glu600Ter)
c.654G>T
c.754G>T (p.Glu252Ter)
20g.45947354A>CCA409230677PCIF1c.1799A>C (p.Glu600Ala)
c.655A>C
c.755A>C (p.Glu252Ala)
20g.45947354A>GCA409230678PCIF1c.1799A>G (p.Glu600Gly)
c.655A>G
c.755A>G (p.Glu252Gly)
20g.45947354A>TCA409230680PCIF1c.1799A>T (p.Glu600Val)
c.655A>T
c.755A>T (p.Glu252Val)
20g.45947355G>ACA510753499PCIF1c.1800G>A (p.Glu600=)
c.656G>A
c.756G>A (p.Glu252=)
 dbSNP
20g.45947355G>CCA409230682PCIF1c.1800G>C (p.Glu600Asp)
c.656G>C
c.756G>C (p.Glu252Asp)
 gnomAD v4
20g.45947355G=CA2366447700PCIF1c.1800G= (p.Glu600=)
c.656G=
c.756G= (p.Glu252=)
20g.45947355G>TCA409230684PCIF1c.1800G>T (p.Glu600Asp)
c.656G>T
c.756G>T (p.Glu252Asp)
20g.45947356C>ACA409230686PCIF1c.1801C>A (p.Gln601Lys)
c.657C>A
c.757C>A (p.Gln253Lys)
20g.45947356C=CA2366447701PCIF1c.1801C= (p.Gln601=)
c.657C=
c.757C= (p.Gln253=)
20g.45947356C>GCA409230688PCIF1c.1801C>G (p.Gln601Glu)
c.657C>G
c.757C>G (p.Gln253Glu)
 dbSNP gnomAD v3 gnomAD v4
20g.45947356C>TCA409230690PCIF1c.1801C>T (p.Gln601Ter)
c.657C>T
c.757C>T (p.Gln253Ter)
20g.45947357A>CCA409230692PCIF1c.1802A>C (p.Gln601Pro)
c.658A>C
c.758A>C (p.Gln253Pro)
20g.45947357A>GCA409230694PCIF1c.1802A>G (p.Gln601Arg)
c.658A>G
c.758A>G (p.Gln253Arg)
20g.45947357A>TCA409230696PCIF1c.1802A>T (p.Gln601Leu)
c.658A>T
c.758A>T (p.Gln253Leu)
20g.45947358G>ACA510753505PCIF1c.1803G>A (p.Gln601=)
c.659G>A
c.759G>A (p.Gln253=)
20g.45947358G>CCA409230698PCIF1c.1803G>C (p.Gln601His)
c.659G>C
c.759G>C (p.Gln253His)
20g.45947358G>TCA409230700PCIF1c.1803G>T (p.Gln601His)
c.659G>T
c.759G>T (p.Gln253His)
 gnomAD v4
20g.45947359A>CCA409230702PCIF1c.1804A>C (p.Ser602Arg)
c.660A>C
c.760A>C (p.Ser254Arg)
20g.45947359A>GCA409230703PCIF1c.1804A>G (p.Ser602Gly)
c.660A>G
c.760A>G (p.Ser254Gly)
20g.45947359A>TCA409230705PCIF1c.1804A>T (p.Ser602Cys)
c.660A>T
c.760A>T (p.Ser254Cys)
20g.45947360G>ACA9884599PCIF1c.1805G>A (p.Ser602Asn)
c.661G>A
c.761G>A (p.Ser254Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947360G>CCA409230707PCIF1c.1805G>C (p.Ser602Thr)
c.661G>C
c.761G>C (p.Ser254Thr)
20g.45947360G=CA2366447702PCIF1c.1805G= (p.Ser602=)
c.661G=
c.761G= (p.Ser254=)
20g.45947360G>TCA409230708PCIF1c.1805G>T (p.Ser602Ile)
c.661G>T
c.761G>T (p.Ser254Ile)
20g.45947361C>ACA409230710PCIF1c.1806C>A (p.Ser602Arg)
c.662C>A
c.762C>A (p.Ser254Arg)
20g.45947361C>GCA409230709PCIF1c.1806C>G (p.Ser602Arg)
c.662C>G
c.762C>G (p.Ser254Arg)
20g.45947361C>TCA510753512PCIF1c.1806C>T (p.Ser602=)
c.662C>T
c.762C>T (p.Ser254=)
 gnomAD v4 COSMIC
20g.45947362C>ACA409230712PCIF1c.1807C>A (p.Arg603Ser)
c.663C>A
c.763C>A (p.Arg255Ser)
20g.45947362C=CA2366447703PCIF1c.1807C= (p.Arg603=)
c.663C=
c.763C= (p.Arg255=)
20g.45947362C>GCA409230714PCIF1c.1807C>G (p.Arg603Gly)
c.663C>G
c.763C>G (p.Arg255Gly)
 dbSNP gnomAD v2 gnomAD v4
20g.45947362C>TCA9884600PCIF1c.1807C>T (p.Arg603Cys)
c.663C>T
c.763C>T (p.Arg255Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947363G>ACA9884601PCIF1c.1808G>A (p.Arg603His)
c.664G>A
c.764G>A (p.Arg255His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947363G>CCA409230717PCIF1c.1808G>C (p.Arg603Pro)
c.664G>C
c.764G>C (p.Arg255Pro)
20g.45947363G=CA2366447704PCIF1c.1808G= (p.Arg603=)
c.664G=
c.764G= (p.Arg255=)
20g.45947363G>TCA409230720PCIF1c.1808G>T (p.Arg603Leu)
c.664G>T
c.764G>T (p.Arg255Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.45947364C>ACA510753517PCIF1c.1809C>A (p.Arg603=)
c.665C>A
c.765C>A (p.Arg255=)
20g.45947364C=CA2366447705PCIF1c.1809C= (p.Arg603=)
c.665C=
c.765C= (p.Arg255=)
20g.45947364C>GCA510753518PCIF1c.1809C>G (p.Arg603=)
c.665C>G
c.765C>G (p.Arg255=)
20g.45947364C>TCA510753519PCIF1c.1809C>T (p.Arg603=)
c.665C>T
c.765C>T (p.Arg255=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.45947365T>ACA9884602PCIF1c.1810T>A (p.Phe604Ile)
c.666T>A
c.766T>A (p.Phe256Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947365T>CCA409230724PCIF1c.1810T>C (p.Phe604Leu)
c.666T>C
c.766T>C (p.Phe256Leu)
20g.45947365T>GCA409230722PCIF1c.1810T>G (p.Phe604Val)
c.666T>G
c.766T>G (p.Phe256Val)
20g.45947365T=CA2366447706PCIF1c.1810T= (p.Phe604=)
c.666T=
c.766T= (p.Phe256=)
20g.45947366T>ACA409230726PCIF1c.1811T>A (p.Phe604Tyr)
c.667T>A
c.767T>A (p.Phe256Tyr)
 gnomAD v4
20g.45947366T>CCA409230728PCIF1c.1811T>C (p.Phe604Ser)
c.667T>C
c.767T>C (p.Phe256Ser)
20g.45947366T>GCA409230730PCIF1c.1811T>G (p.Phe604Cys)
c.667T>G
c.767T>G (p.Phe256Cys)
20g.45947367C>ACA409230732PCIF1c.1812C>A (p.Phe604Leu)
c.668C>A
c.768C>A (p.Phe256Leu)
20g.45947367C=CA2366447707PCIF1c.1812C= (p.Phe604=)
c.668C=
c.768C= (p.Phe256=)
20g.45947367C>GCA409230734PCIF1c.1812C>G (p.Phe604Leu)
c.668C>G
c.768C>G (p.Phe256Leu)
20g.45947367C>TCA510753522PCIF1c.1812C>T (p.Phe604=)
c.668C>T
c.768C>T (p.Phe256=)
 dbSNP gnomAD v3 gnomAD v4
20g.45947368A>CCA409230735PCIF1c.1813A>C (p.Lys605Gln)
c.669A>C
c.769A>C (p.Lys257Gln)
20g.45947368A>GCA409230736PCIF1c.1813A>G (p.Lys605Glu)
c.669A>G
c.769A>G (p.Lys257Glu)
20g.45947368A>TCA409230737PCIF1c.1813A>T (p.Lys605Ter)
c.669A>T
c.769A>T (p.Lys257Ter)
20g.45947369A>CCA409230738PCIF1c.1814A>C (p.Lys605Thr)
c.670A>C
c.770A>C (p.Lys257Thr)
20g.45947369A>GCA409230739PCIF1c.1814A>G (p.Lys605Arg)
c.670A>G
c.770A>G (p.Lys257Arg)
 gnomAD v4
20g.45947369A>TCA409230740PCIF1c.1814A>T (p.Lys605Ile)
c.670A>T
c.770A>T (p.Lys257Ile)
20g.45947370A>CCA409230742PCIF1c.1815A>C (p.Lys605Asn)
c.671A>C
c.771A>C (p.Lys257Asn)
20g.45947370A>GCA510753529PCIF1c.1815A>G (p.Lys605=)
c.671A>G
c.771A>G (p.Lys257=)
20g.45947370A>TCA409230741PCIF1c.1815A>T (p.Lys605Asn)
c.671A>T
c.771A>T (p.Lys257Asn)
20g.45947371C>ACA409230743PCIF1c.1816C>A (p.Arg606Ser)
c.672C>A
c.772C>A (p.Arg258Ser)
20g.45947371C=CA2366447708PCIF1c.1816C= (p.Arg606=)
c.672C=
c.772C= (p.Arg258=)
20g.45947371C>GCA409230745PCIF1c.1816C>G (p.Arg606Gly)
c.672C>G
c.772C>G (p.Arg258Gly)
20g.45947371C>TCA9884603PCIF1c.1816C>T (p.Arg606Cys)
c.672C>T
c.772C>T (p.Arg258Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.45947372G>ACA9884604PCIF1c.1817G>A (p.Arg606His)
c.673G>A
c.773G>A (p.Arg258His)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
20g.45947372G>CCA409230750PCIF1c.1817G>C (p.Arg606Pro)
c.673G>C
c.773G>C (p.Arg258Pro)
20g.45947372G=CA2366447709PCIF1c.1817G= (p.Arg606=)
c.673G=
c.773G= (p.Arg258=)
20g.45947372G>TCA409230748PCIF1c.1817G>T (p.Arg606Leu)
c.673G>T
c.773G>T (p.Arg258Leu)
20g.45947373C>ACA510753536PCIF1c.1818C>A (p.Arg606=)
c.674C>A
c.774C>A (p.Arg258=)
20g.45947373C=CA2366447710PCIF1c.1818C= (p.Arg606=)
c.674C=
c.774C= (p.Arg258=)
20g.45947373C>GCA9884605PCIF1c.1818C>G (p.Arg606=)
c.674C>G
c.774C>G (p.Arg258=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947373C>TCA9884606PCIF1c.1818C>T (p.Arg606=)
c.674C>T
c.774C>T (p.Arg258=)
 dbSNP ExAC gnomAD v4
20g.45947374C>ACA409230756PCIF1c.1819C>A (p.His607Asn)
c.675C>A
c.775C>A (p.His259Asn)
20g.45947374C>GCA409230759PCIF1c.1819C>G (p.His607Asp)
c.675C>G
c.775C>G (p.His259Asp)
20g.45947374C>TCA409230758PCIF1c.1819C>T (p.His607Tyr)
c.675C>T
c.775C>T (p.His259Tyr)
 gnomAD v4
20g.45947375A>CCA409230762PCIF1c.1820A>C (p.His607Pro)
c.676A>C
c.776A>C (p.His259Pro)
20g.45947375A>GCA409230763PCIF1c.1820A>G (p.His607Arg)
c.676A>G
c.776A>G (p.His259Arg)
20g.45947375A>TCA409230764PCIF1c.1820A>T (p.His607Leu)
c.676A>T
c.776A>T (p.His259Leu)
20g.45947376C>ACA409230767PCIF1c.1821C>A (p.His607Gln)
c.677C>A
c.777C>A (p.His259Gln)
20g.45947376C>GCA409230770PCIF1c.1821C>G (p.His607Gln)
c.677C>G
c.777C>G (p.His259Gln)
20g.45947376C>TCA510753540PCIF1c.1821C>T (p.His607=)
c.677C>T
c.777C>T (p.His259=)
 gnomAD v4
20g.45947377C>ACA409230771PCIF1c.1822C>A (p.Gln608Lys)
c.678C>A
c.778C>A (p.Gln260Lys)
20g.45947377C>GCA409230773PCIF1c.1822C>G (p.Gln608Glu)
c.678C>G
c.778C>G (p.Gln260Glu)
20g.45947377C>TCA409230775PCIF1c.1822C>T (p.Gln608Ter)
c.678C>T
c.778C>T (p.Gln260Ter)
20g.45947378A>CCA409230777PCIF1c.1823A>C (p.Gln608Pro)
c.679A>C
c.779A>C (p.Gln260Pro)
20g.45947378A>GCA409230778PCIF1c.1823A>G (p.Gln608Arg)
c.679A>G
c.779A>G (p.Gln260Arg)
20g.45947378A>TCA409230781PCIF1c.1823A>T (p.Gln608Leu)
c.679A>T
c.779A>T (p.Gln260Leu)
20g.45947379G>ACA510753541PCIF1c.1824G>A (p.Gln608=)
c.680G>A
c.780G>A (p.Gln260=)
20g.45947379G>CCA409230783PCIF1c.1824G>C (p.Gln608His)
c.680G>C
c.780G>C (p.Gln260His)
 gnomAD v4
20g.45947379G>TCA409230784PCIF1c.1824G>T (p.Gln608His)
c.680G>T
c.780G>T (p.Gln260His)
20g.45947380T>ACA409230787PCIF1c.1825T>A (p.Leu609Met)
c.681T>A
c.781T>A (p.Leu261Met)
 dbSNP
20g.45947380T>CCA510753542PCIF1c.1825T>C (p.Leu609=)
c.681T>C
c.781T>C (p.Leu261=)
 dbSNP gnomAD v3 gnomAD v4
20g.45947380T>GCA409230789PCIF1c.1825T>G (p.Leu609Val)
c.681T>G
c.781T>G (p.Leu261Val)
20g.45947380T=CA2366447711PCIF1c.1825T= (p.Leu609=)
c.681T=
c.781T= (p.Leu261=)
20g.45947381T>ACA409230791PCIF1c.1826T>A (p.Leu609Ter)
c.682T>A
c.782T>A (p.Leu261Ter)
20g.45947381T>CCA409230792PCIF1c.1826T>C (p.Leu609Ser)
c.682T>C
c.782T>C (p.Leu261Ser)
20g.45947381T>GCA9884607PCIF1c.1826T>G (p.Leu609Trp)
c.682T>G
c.782T>G (p.Leu261Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947381T=CA2366447712PCIF1c.1826T= (p.Leu609=)
c.682T=
c.782T= (p.Leu261=)
20g.45947382G>ACA510753544PCIF1c.1827G>A (p.Leu609=)
c.683G>A
c.783G>A (p.Leu261=)
 dbSNP gnomAD v4
20g.45947382G>CCA409230796PCIF1c.1827G>C (p.Leu609Phe)
c.683G>C
c.783G>C (p.Leu261Phe)
20g.45947382G=CA2366447713PCIF1c.1827G= (p.Leu609=)
c.683G=
c.783G= (p.Leu261=)
20g.45947382G>TCA409230798PCIF1c.1827G>T (p.Leu609Phe)
c.683G>T
c.783G>T (p.Leu261Phe)
20g.45947383A=CA2366447714PCIF1c.1828A= (p.Ile610=)
c.684A=
c.784A= (p.Ile262=)
20g.45947383A>CCA409230800PCIF1c.1828A>C (p.Ile610Leu)
c.684A>C
c.784A>C (p.Ile262Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.45947383A>GCA409230802PCIF1c.1828A>G (p.Ile610Val)
c.684A>G
c.784A>G (p.Ile262Val)
20g.45947383A>TCA409230803PCIF1c.1828A>T (p.Ile610Phe)
c.684A>T
c.784A>T (p.Ile262Phe)
20g.45947384T>ACA409230805PCIF1c.1829T>A (p.Ile610Asn)
c.685T>A
c.785T>A (p.Ile262Asn)
20g.45947384T>CCA409230807PCIF1c.1829T>C (p.Ile610Thr)
c.685T>C
c.785T>C (p.Ile262Thr)
20g.45947384T>GCA409230809PCIF1c.1829T>G (p.Ile610Ser)
c.685T>G
c.785T>G (p.Ile262Ser)
20g.45947385C>ACA510753547PCIF1c.1830C>A (p.Ile610=)
c.686C>A
c.786C>A (p.Ile262=)
20g.45947385C>GCA409230812PCIF1c.1830C>G (p.Ile610Met)
c.686C>G
c.786C>G (p.Ile262Met)
20g.45947385C>TCA510753548PCIF1c.1830C>T (p.Ile610=)
c.686C>T
c.786C>T (p.Ile262=)
 gnomAD v4
20g.45947386delCA645606509PCIF1c.1831del (p.Leu611CysfsTer?)
c.687del
c.787del (p.Leu263CysfsTer?)
 gnomAD v4 COSMIC
20g.45947386C>ACA409230816PCIF1c.1831C>A (p.Leu611Met)
c.687C>A
c.787C>A (p.Leu263Met)
20g.45947386C=CA2366447715PCIF1c.1831C= (p.Leu611=)
c.687C=
c.787C= (p.Leu263=)
20g.45947386C>GCA409230814PCIF1c.1831C>G (p.Leu611Val)
c.687C>G
c.787C>G (p.Leu263Val)
20g.45947386C>TCA510753549PCIF1c.1831C>T (p.Leu611=)
c.687C>T
c.787C>T (p.Leu263=)
 dbSNP gnomAD v2 gnomAD v4
20g.45947387T>ACA409230818PCIF1c.1832T>A (p.Leu611Gln)
c.688T>A
c.788T>A (p.Leu263Gln)
20g.45947387T>CCA409230820PCIF1c.1832T>C (p.Leu611Pro)
c.688T>C
c.788T>C (p.Leu263Pro)
20g.45947387T>GCA409230822PCIF1c.1832T>G (p.Leu611Arg)
c.688T>G
c.788T>G (p.Leu263Arg)
20g.45947388G>ACA315640908PCIF1c.1833G>A (p.Leu611=)
c.689G>A
c.789G>A (p.Leu263=)
 dbSNP
20g.45947388G>CCA510753552PCIF1c.1833G>C (p.Leu611=)
c.689G>C
c.789G>C (p.Leu263=)
20g.45947388G=CA2366447716PCIF1c.1833G= (p.Leu611=)
c.689G=
c.789G= (p.Leu263=)
20g.45947388G>TCA510753554PCIF1c.1833G>T (p.Leu611=)
c.689G>T
c.789G>T (p.Leu263=)
20g.45947389C>ACA315640925PCIF1c.1834C>A (p.Pro612Thr)
c.690C>A
c.790C>A (p.Pro264Thr)
 dbSNP gnomAD v4
20g.45947389C=CA2366447717PCIF1c.1834C= (p.Pro612=)
c.690C=
c.790C= (p.Pro264=)
20g.45947389C>GCA9884608PCIF1c.1834C>G (p.Pro612Ala)
c.690C>G
c.790C>G (p.Pro264Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.45947389C>TCA409230829PCIF1c.1834C>T (p.Pro612Ser)
c.690C>T
c.790C>T (p.Pro264Ser)
20g.45947390C>ACA409230831PCIF1c.1835C>A (p.Pro612His)
c.691C>A
c.791C>A (p.Pro264His)
20g.45947390C=CA2366447718PCIF1c.1835C= (p.Pro612=)
c.691C=
c.791C= (p.Pro264=)
20g.45947390C>GCA409230833PCIF1c.1835C>G (p.Pro612Arg)
c.691C>G
c.791C>G (p.Pro264Arg)
20g.45947390C>TCA409230835PCIF1c.1835C>T (p.Pro612Leu)
c.691C>T
c.791C>T (p.Pro264Leu)
 dbSNP gnomAD v4
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

Number of alleles fetched