Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.45947307C>A | CA409230412 | PCIF1 | c.1752C>A (p.Phe584Leu) c.608C>A c.708C>A (p.Phe236Leu) | |
20 | g.45947307C>G | CA409230413 | PCIF1 | c.1752C>G (p.Phe584Leu) c.608C>G c.708C>G (p.Phe236Leu) | |
20 | g.45947307C>T | CA510753420 | PCIF1 | c.1752C>T (p.Phe584=) c.608C>T c.708C>T (p.Phe236=) | |
20 | g.45947308A= | CA2366447677 | PCIF1 | c.1753A= (p.Ile585=) c.609A= c.709A= (p.Ile237=) | |
20 | g.45947308A>C | CA409230414 | PCIF1 | c.1753A>C (p.Ile585Leu) c.609A>C c.709A>C (p.Ile237Leu) | |
20 | g.45947308A>G | CA409230417 | PCIF1 | c.1753A>G (p.Ile585Val) c.609A>G c.709A>G (p.Ile237Val) | dbSNP |
20 | g.45947308A>T | CA409230415 | PCIF1 | c.1753A>T (p.Ile585Phe) c.609A>T c.709A>T (p.Ile237Phe) | |
20 | g.45947309T>A | CA409230418 | PCIF1 | c.1754T>A (p.Ile585Asn) c.610T>A c.710T>A (p.Ile237Asn) | |
20 | g.45947309T>C | CA409230419 | PCIF1 | c.1754T>C (p.Ile585Thr) c.610T>C c.710T>C (p.Ile237Thr) | |
20 | g.45947309T>G | CA409230423 | PCIF1 | c.1754T>G (p.Ile585Ser) c.610T>G c.710T>G (p.Ile237Ser) | |
20 | g.45947310C>A | CA510753422 | PCIF1 | c.1755C>A (p.Ile585=) c.611C>A c.711C>A (p.Ile237=) | |
20 | g.45947310C>G | CA409230426 | PCIF1 | c.1755C>G (p.Ile585Met) c.611C>G c.711C>G (p.Ile237Met) | |
20 | g.45947310C>T | CA510753423 | PCIF1 | c.1755C>T (p.Ile585=) c.611C>T c.711C>T (p.Ile237=) | gnomAD v4 |
20 | g.45947311C>A | CA409230428 | PCIF1 | c.1756C>A (p.Pro586Thr) c.612C>A c.712C>A (p.Pro238Thr) | |
20 | g.45947311C>G | CA409230432 | PCIF1 | c.1756C>G (p.Pro586Ala) c.612C>G c.712C>G (p.Pro238Ala) | |
20 | g.45947311C>T | CA409230430 | PCIF1 | c.1756C>T (p.Pro586Ser) c.612C>T c.712C>T (p.Pro238Ser) | |
20 | g.45947312C>A | CA409230433 | PCIF1 | c.1757C>A (p.Pro586His) c.613C>A c.713C>A (p.Pro238His) | |
20 | g.45947312C>G | CA409230434 | PCIF1 | c.1757C>G (p.Pro586Arg) c.613C>G c.713C>G (p.Pro238Arg) | |
20 | g.45947312C>T | CA409230435 | PCIF1 | c.1757C>T (p.Pro586Leu) c.613C>T c.713C>T (p.Pro238Leu) | gnomAD v4 |
20 | g.45947313T>A | CA510753424 | PCIF1 | c.1758T>A (p.Pro586=) c.614T>A c.714T>A (p.Pro238=) | |
20 | g.45947313T>C | CA510753426 | PCIF1 | c.1758T>C (p.Pro586=) c.614T>C c.714T>C (p.Pro238=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947313T>G | CA510753428 | PCIF1 | c.1758T>G (p.Pro586=) c.614T>G c.714T>G (p.Pro238=) | |
20 | g.45947313T= | CA2366447678 | PCIF1 | c.1758T= (p.Pro586=) c.614T= c.714T= (p.Pro238=) | |
20 | g.45947314G>A | CA409230437 | PCIF1 | c.1759G>A (p.Glu587Lys) c.615G>A c.715G>A (p.Glu239Lys) | |
20 | g.45947314G>C | CA409230439 | PCIF1 | c.1759G>C (p.Glu587Gln) c.615G>C c.715G>C (p.Glu239Gln) | |
20 | g.45947314G>T | CA409230446 | PCIF1 | c.1759G>T (p.Glu587Ter) c.615G>T c.715G>T (p.Glu239Ter) | |
20 | g.45947315A>C | CA409230450 | PCIF1 | c.1760A>C (p.Glu587Ala) c.616A>C c.716A>C (p.Glu239Ala) | |
20 | g.45947315A>G | CA409230452 | PCIF1 | c.1760A>G (p.Glu587Gly) c.616A>G c.716A>G (p.Glu239Gly) | |
20 | g.45947315A>T | CA409230456 | PCIF1 | c.1760A>T (p.Glu587Val) c.616A>T c.716A>T (p.Glu239Val) | |
20 | g.45947316G>A | CA510753430 | PCIF1 | c.1761G>A (p.Glu587=) c.617G>A c.717G>A (p.Glu239=) | |
20 | g.45947316G>C | CA409230462 | PCIF1 | c.1761G>C (p.Glu587Asp) c.617G>C c.717G>C (p.Glu239Asp) | gnomAD v4 |
20 | g.45947316G>T | CA409230464 | PCIF1 | c.1761G>T (p.Glu587Asp) c.617G>T c.717G>T (p.Glu239Asp) | |
20 | g.45947317T>A | CA409230468 | PCIF1 | c.1762T>A (p.Trp588Arg) c.618T>A c.718T>A (p.Trp240Arg) | |
20 | g.45947317T>C | CA409230471 | PCIF1 | c.1762T>C (p.Trp588Arg) c.618T>C c.718T>C (p.Trp240Arg) | gnomAD v4 |
20 | g.45947317T>G | CA409230470 | PCIF1 | c.1762T>G (p.Trp588Gly) c.618T>G c.718T>G (p.Trp240Gly) | |
20 | g.45947318G>A | CA409230472 | PCIF1 | c.1763G>A (p.Trp588Ter) c.619G>A c.719G>A (p.Trp240Ter) | |
20 | g.45947318G>C | CA409230474 | PCIF1 | c.1763G>C (p.Trp588Ser) c.619G>C c.719G>C (p.Trp240Ser) | gnomAD v4 |
20 | g.45947318G>T | CA409230475 | PCIF1 | c.1763G>T (p.Trp588Leu) c.619G>T c.719G>T (p.Trp240Leu) | |
20 | g.45947319G>A | CA409230477 | PCIF1 | c.1764G>A (p.Trp588Ter) c.620G>A c.720G>A (p.Trp240Ter) | |
20 | g.45947319G>C | CA409230484 | PCIF1 | c.1764G>C (p.Trp588Cys) c.620G>C c.720G>C (p.Trp240Cys) | |
20 | g.45947319G>T | CA409230487 | PCIF1 | c.1764G>T (p.Trp588Cys) c.620G>T c.720G>T (p.Trp240Cys) | |
20 | g.45947320C>A | CA510753434 | PCIF1 | c.1765C>A (p.Arg589=) c.621C>A c.721C>A (p.Arg241=) | |
20 | g.45947320C= | CA2366447679 | PCIF1 | c.1765C= (p.Arg589=) c.621C= c.721C= (p.Arg241=) | |
20 | g.45947320C>G | CA409230490 | PCIF1 | c.1765C>G (p.Arg589Gly) c.621C>G c.721C>G (p.Arg241Gly) | |
20 | g.45947320C>T | CA409230492 | PCIF1 | c.1765C>T (p.Arg589Trp) c.621C>T c.721C>T (p.Arg241Trp) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947321G>A | CA9884589 | PCIF1 | c.1766G>A (p.Arg589Gln) c.622G>A c.722G>A (p.Arg241Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.45947321G>C | CA409230497 | PCIF1 | c.1766G>C (p.Arg589Pro) c.622G>C c.722G>C (p.Arg241Pro) | |
20 | g.45947321G= | CA2366447680 | PCIF1 | c.1766G= (p.Arg589=) c.622G= c.722G= (p.Arg241=) | |
20 | g.45947321G>T | CA409230500 | PCIF1 | c.1766G>T (p.Arg589Leu) c.622G>T c.722G>T (p.Arg241Leu) | |
20 | g.45947322G>A | CA510753440 | PCIF1 | c.1767G>A (p.Arg589=) c.623G>A c.723G>A (p.Arg241=) | |
20 | g.45947322G>C | CA510753439 | PCIF1 | c.1767G>C (p.Arg589=) c.623G>C c.723G>C (p.Arg241=) | |
20 | g.45947322G>T | CA510753437 | PCIF1 | c.1767G>T (p.Arg589=) c.623G>T c.723G>T (p.Arg241=) | |
20 | g.45947323G>A | CA409230504 | PCIF1 | c.1768G>A (p.Glu590Lys) c.624G>A c.724G>A (p.Glu242Lys) | COSMIC |
20 | g.45947323G>C | CA409230506 | PCIF1 | c.1768G>C (p.Glu590Gln) c.624G>C c.724G>C (p.Glu242Gln) | |
20 | g.45947323G>T | CA409230509 | PCIF1 | c.1768G>T (p.Glu590Ter) c.624G>T c.724G>T (p.Glu242Ter) | |
20 | g.45947324A= | CA2366447681 | PCIF1 | c.1769A= (p.Glu590=) c.625A= c.725A= (p.Glu242=) | |
20 | g.45947324A>C | CA409230515 | PCIF1 | c.1769A>C (p.Glu590Ala) c.625A>C c.725A>C (p.Glu242Ala) | |
20 | g.45947324A>G | CA315640794 | PCIF1 | c.1769A>G (p.Glu590Gly) c.625A>G c.725A>G (p.Glu242Gly) | dbSNP gnomAD v4 |
20 | g.45947324A>T | CA409230512 | PCIF1 | c.1769A>T (p.Glu590Val) c.625A>T c.725A>T (p.Glu242Val) | gnomAD v4 |
20 | g.45947325A= | CA2366447682 | PCIF1 | c.1770A= (p.Glu590=) c.626A= c.726A= (p.Glu242=) | |
20 | g.45947325A>C | CA409230517 | PCIF1 | c.1770A>C (p.Glu590Asp) c.626A>C c.726A>C (p.Glu242Asp) | dbSNP |
20 | g.45947325A>G | CA510753443 | PCIF1 | c.1770A>G (p.Glu590=) c.626A>G c.726A>G (p.Glu242=) | |
20 | g.45947325A>T | CA409230519 | PCIF1 | c.1770A>T (p.Glu590Asp) c.626A>T c.726A>T (p.Glu242Asp) | |
20 | g.45947326C>A | CA409230520 | PCIF1 | c.1771C>A (p.Pro591Thr) c.627C>A c.727C>A (p.Pro243Thr) | gnomAD v4 |
20 | g.45947326C>G | CA409230521 | PCIF1 | c.1771C>G (p.Pro591Ala) c.627C>G c.727C>G (p.Pro243Ala) | |
20 | g.45947326C>T | CA409230522 | PCIF1 | c.1771C>T (p.Pro591Ser) c.627C>T c.727C>T (p.Pro243Ser) | |
20 | g.45947327C>A | CA409230526 | PCIF1 | c.1772C>A (p.Pro591His) c.628C>A c.728C>A (p.Pro243His) | dbSNP gnomAD v4 |
20 | g.45947327C= | CA2366447683 | PCIF1 | c.1772C= (p.Pro591=) c.628C= c.728C= (p.Pro243=) | |
20 | g.45947327C>G | CA409230528 | PCIF1 | c.1772C>G (p.Pro591Arg) c.628C>G c.728C>G (p.Pro243Arg) | dbSNP |
20 | g.45947327C>T | CA409230531 | PCIF1 | c.1772C>T (p.Pro591Leu) c.628C>T c.728C>T (p.Pro243Leu) | |
20 | g.45947328C>A | CA510753447 | PCIF1 | c.1773C>A (p.Pro591=) c.629C>A c.729C>A (p.Pro243=) | |
20 | g.45947328C>G | CA510753448 | PCIF1 | c.1773C>G (p.Pro591=) c.629C>G c.729C>G (p.Pro243=) | gnomAD v4 |
20 | g.45947328C>T | CA510753449 | PCIF1 | c.1773C>T (p.Pro591=) c.629C>T c.729C>T (p.Pro243=) | gnomAD v4 |
20 | g.45947329C>A | CA409230536 | PCIF1 | c.1774C>A (p.Pro592Thr) c.630C>A c.730C>A (p.Pro244Thr) | |
20 | g.45947329C= | CA2366447684 | PCIF1 | c.1774C= (p.Pro592=) c.630C= c.730C= (p.Pro244=) | |
20 | g.45947329C>G | CA409230540 | PCIF1 | c.1774C>G (p.Pro592Ala) c.630C>G c.730C>G (p.Pro244Ala) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947329C>T | CA409230542 | PCIF1 | c.1774C>T (p.Pro592Ser) c.630C>T c.730C>T (p.Pro244Ser) | |
20 | g.45947330C>A | CA409230545 | PCIF1 | c.1775C>A (p.Pro592Gln) c.631C>A c.731C>A (p.Pro244Gln) | |
20 | g.45947330C= | CA2366447685 | PCIF1 | c.1775C= (p.Pro592=) c.631C= c.731C= (p.Pro244=) | |
20 | g.45947330C>G | CA315640797 | PCIF1 | c.1775C>G (p.Pro592Arg) c.631C>G c.731C>G (p.Pro244Arg) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947330C>T | CA409230549 | PCIF1 | c.1775C>T (p.Pro592Leu) c.631C>T c.731C>T (p.Pro244Leu) | |
20 | g.45947331A>C | CA510753451 | PCIF1 | c.1776A>C (p.Pro592=) c.632A>C c.732A>C (p.Pro244=) | dbSNP gnomAD v4 |
20 | g.45947331A>G | CA510753453 | PCIF1 | c.1776A>G (p.Pro592=) c.632A>G c.732A>G (p.Pro244=) | gnomAD v4 |
20 | g.45947331A>T | CA510753455 | PCIF1 | c.1776A>T (p.Pro592=) c.632A>T c.732A>T (p.Pro244=) | |
20 | g.45947332A= | CA2366447686 | PCIF1 | c.1777A= (p.Thr593=) c.633A= c.733A= (p.Thr245=) | |
20 | g.45947332A>C | CA409230557 | PCIF1 | c.1777A>C (p.Thr593Pro) c.633A>C c.733A>C (p.Thr245Pro) | |
20 | g.45947332A>G | CA409230559 | PCIF1 | c.1777A>G (p.Thr593Ala) c.633A>G c.733A>G (p.Thr245Ala) | gnomAD v4 |
20 | g.45947332A>T | CA409230553 | PCIF1 | c.1777A>T (p.Thr593Ser) c.633A>T c.733A>T (p.Thr245Ser) | dbSNP |
20 | g.45947333C>A | CA409230561 | PCIF1 | c.1778C>A (p.Thr593Lys) c.634C>A c.734C>A (p.Thr245Lys) | |
20 | g.45947333C>G | CA409230564 | PCIF1 | c.1778C>G (p.Thr593Arg) c.634C>G c.734C>G (p.Thr245Arg) | |
20 | g.45947333C>T | CA409230565 | PCIF1 | c.1778C>T (p.Thr593Ile) c.634C>T c.734C>T (p.Thr245Ile) | |
20 | g.45947334A= | CA2366447687 | PCIF1 | c.1779A= (p.Thr593=) c.635A= c.735A= (p.Thr245=) | |
20 | g.45947334A>C | CA510753457 | PCIF1 | c.1779A>C (p.Thr593=) c.635A>C c.735A>C (p.Thr245=) | dbSNP |
20 | g.45947334A>G | CA9884590 | PCIF1 | c.1779A>G (p.Thr593=) c.635A>G c.735A>G (p.Thr245=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947334A>T | CA510753458 | PCIF1 | c.1779A>T (p.Thr593=) c.635A>T c.735A>T (p.Thr245=) | |
20 | g.45947335C>A | CA409230577 | PCIF1 | c.1780C>A (p.Pro594Thr) c.636C>A c.736C>A (p.Pro246Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947335C= | CA2366447688 | PCIF1 | c.1780C= (p.Pro594=) c.636C= c.736C= (p.Pro246=) | |
20 | g.45947335C>G | CA409230580 | PCIF1 | c.1780C>G (p.Pro594Ala) c.636C>G c.736C>G (p.Pro246Ala) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947335C>T | CA409230582 | PCIF1 | c.1780C>T (p.Pro594Ser) c.636C>T c.736C>T (p.Pro246Ser) | |
20 | g.45947336C>A | CA409230586 | PCIF1 | c.1781C>A (p.Pro594Gln) c.637C>A c.737C>A (p.Pro246Gln) | |
20 | g.45947336C= | CA2366447689 | PCIF1 | c.1781C= (p.Pro594=) c.637C= c.737C= (p.Pro246=) | |
20 | g.45947336C>G | CA409230591 | PCIF1 | c.1781C>G (p.Pro594Arg) c.637C>G c.737C>G (p.Pro246Arg) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947336C>T | CA409230589 | PCIF1 | c.1781C>T (p.Pro594Leu) c.637C>T c.737C>T (p.Pro246Leu) | |
20 | g.45947337A= | CA2366447690 | PCIF1 | c.1782A= (p.Pro594=) c.638A= c.738A= (p.Pro246=) | |
20 | g.45947337A>C | CA510753463 | PCIF1 | c.1782A>C (p.Pro594=) c.638A>C c.738A>C (p.Pro246=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947337A>G | CA9884591 | PCIF1 | c.1782A>G (p.Pro594=) c.638A>G c.738A>G (p.Pro246=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.45947337A>T | CA510753464 | PCIF1 | c.1782A>T (p.Pro594=) c.638A>T c.738A>T (p.Pro246=) | |
20 | g.45947338G>A | CA409230595 | PCIF1 | c.1783G>A (p.Ala595Thr) c.639G>A c.739G>A (p.Ala247Thr) | |
20 | g.45947338G>C | CA409230597 | PCIF1 | c.1783G>C (p.Ala595Pro) c.639G>C c.739G>C (p.Ala247Pro) | |
20 | g.45947338G>T | CA409230598 | PCIF1 | c.1783G>T (p.Ala595Ser) c.639G>T c.739G>T (p.Ala247Ser) | |
20 | g.45947339C>A | CA409230602 | PCIF1 | c.1784C>A (p.Ala595Glu) c.640C>A c.740C>A (p.Ala247Glu) | |
20 | g.45947339C= | CA2366447691 | PCIF1 | c.1784C= (p.Ala595=) c.640C= c.740C= (p.Ala247=) | |
20 | g.45947339C>G | CA409230605 | PCIF1 | c.1784C>G (p.Ala595Gly) c.640C>G c.740C>G (p.Ala247Gly) | |
20 | g.45947339C>T | CA9884592 | PCIF1 | c.1784C>T (p.Ala595Val) c.640C>T c.740C>T (p.Ala247Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947340G>A | CA9884593 | PCIF1 | c.1785G>A (p.Ala595=) c.641G>A c.741G>A (p.Ala247=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947340G>C | CA510753470 | PCIF1 | c.1785G>C (p.Ala595=) c.641G>C c.741G>C (p.Ala247=) | |
20 | g.45947340G= | CA2366447692 | PCIF1 | c.1785G= (p.Ala595=) c.641G= c.741G= (p.Ala247=) | |
20 | g.45947340G>T | CA510753468 | PCIF1 | c.1785G>T (p.Ala595=) c.641G>T c.741G>T (p.Ala247=) | |
20 | g.45947341C>A | CA409230611 | PCIF1 | c.1786C>A (p.Leu596Ile) c.642C>A c.742C>A (p.Leu248Ile) | |
20 | g.45947341C>G | CA409230613 | PCIF1 | c.1786C>G (p.Leu596Val) c.642C>G c.742C>G (p.Leu248Val) | |
20 | g.45947341C>T | CA409230616 | PCIF1 | c.1786C>T (p.Leu596Phe) c.642C>T c.742C>T (p.Leu248Phe) | |
20 | g.45947342T>A | CA409230619 | PCIF1 | c.1787T>A (p.Leu596His) c.643T>A c.743T>A (p.Leu248His) | |
20 | g.45947342T>C | CA409230620 | PCIF1 | c.1787T>C (p.Leu596Pro) c.643T>C c.743T>C (p.Leu248Pro) | |
20 | g.45947342T>G | CA409230624 | PCIF1 | c.1787T>G (p.Leu596Arg) c.643T>G c.743T>G (p.Leu248Arg) | |
20 | g.45947343C>A | CA510753472 | PCIF1 | c.1788C>A (p.Leu596=) c.644C>A c.744C>A (p.Leu248=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947343C= | CA2366447693 | PCIF1 | c.1788C= (p.Leu596=) c.644C= c.744C= (p.Leu248=) | |
20 | g.45947343C>G | CA510753473 | PCIF1 | c.1788C>G (p.Leu596=) c.644C>G c.744C>G (p.Leu248=) | |
20 | g.45947343C>T | CA9884594 | PCIF1 | c.1788C>T (p.Leu596=) c.644C>T c.744C>T (p.Leu248=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947344A= | CA2366447694 | PCIF1 | c.1789A= (p.Thr597=) c.645A= c.745A= (p.Thr249=) | |
20 | g.45947344A>C | CA409230627 | PCIF1 | c.1789A>C (p.Thr597Pro) c.645A>C c.745A>C (p.Thr249Pro) | dbSNP |
20 | g.45947344A>G | CA409230628 | PCIF1 | c.1789A>G (p.Thr597Ala) c.645A>G c.745A>G (p.Thr249Ala) | |
20 | g.45947344A>T | CA409230629 | PCIF1 | c.1789A>T (p.Thr597Ser) c.645A>T c.745A>T (p.Thr249Ser) | |
20 | g.45947345C>A | CA409230632 | PCIF1 | c.1790C>A (p.Thr597Asn) c.646C>A c.746C>A (p.Thr249Asn) | |
20 | g.45947345C= | CA2366447695 | PCIF1 | c.1790C= (p.Thr597=) c.646C= c.746C= (p.Thr249=) | |
20 | g.45947345C>G | CA409230635 | PCIF1 | c.1790C>G (p.Thr597Ser) c.646C>G c.746C>G (p.Thr249Ser) | |
20 | g.45947345C>T | CA315640817 | PCIF1 | c.1790C>T (p.Thr597Ile) c.646C>T c.746C>T (p.Thr249Ile) | dbSNP |
20 | g.45947346C>A | CA510753480 | PCIF1 | c.1791C>A (p.Thr597=) c.647C>A c.747C>A (p.Thr249=) | |
20 | g.45947346C>G | CA510753484 | PCIF1 | c.1791C>G (p.Thr597=) c.647C>G c.747C>G (p.Thr249=) | |
20 | g.45947346C>T | CA510753482 | PCIF1 | c.1791C>T (p.Thr597=) c.647C>T c.747C>T (p.Thr249=) | |
20 | g.45947347C>A | CA315640836 | PCIF1 | c.1792C>A (p.Arg598Ser) c.648C>A c.748C>A (p.Arg250Ser) | dbSNP gnomAD v4 |
20 | g.45947347C= | CA2366447696 | PCIF1 | c.1792C= (p.Arg598=) c.648C= c.748C= (p.Arg250=) | |
20 | g.45947347C>G | CA409230641 | PCIF1 | c.1792C>G (p.Arg598Gly) c.648C>G c.748C>G (p.Arg250Gly) | dbSNP gnomAD v4 |
20 | g.45947347C>T | CA9884595 | PCIF1 | c.1792C>T (p.Arg598Cys) c.648C>T c.748C>T (p.Arg250Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947348G>A | CA9884596 | PCIF1 | c.1793G>A (p.Arg598His) c.649G>A c.749G>A (p.Arg250His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947348G>C | CA409230646 | PCIF1 | c.1793G>C (p.Arg598Pro) c.649G>C c.749G>C (p.Arg250Pro) | |
20 | g.45947348G= | CA2366447697 | PCIF1 | c.1793G= (p.Arg598=) c.649G= c.749G= (p.Arg250=) | |
20 | g.45947348G>T | CA409230649 | PCIF1 | c.1793G>T (p.Arg598Leu) c.649G>T c.749G>T (p.Arg250Leu) | |
20 | g.45947349C>A | CA510753487 | PCIF1 | c.1794C>A (p.Arg598=) c.650C>A c.750C>A (p.Arg250=) | |
20 | g.45947349C>G | CA510753489 | PCIF1 | c.1794C>G (p.Arg598=) c.650C>G c.750C>G (p.Arg250=) | |
20 | g.45947349C>T | CA510753490 | PCIF1 | c.1794C>T (p.Arg598=) c.650C>T c.750C>T (p.Arg250=) | gnomAD v4 |
20 | g.45947350A= | CA2366447698 | PCIF1 | c.1795A= (p.Met599=) c.651A= c.751A= (p.Met251=) | |
20 | g.45947350A>C | CA409230653 | PCIF1 | c.1795A>C (p.Met599Leu) c.651A>C c.751A>C (p.Met251Leu) | |
20 | g.45947350A>G | CA9884597 | PCIF1 | c.1795A>G (p.Met599Val) c.651A>G c.751A>G (p.Met251Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.45947350A>T | CA409230657 | PCIF1 | c.1795A>T (p.Met599Leu) c.651A>T c.751A>T (p.Met251Leu) | |
20 | g.45947351T>A | CA409230661 | PCIF1 | c.1796T>A (p.Met599Lys) c.652T>A c.752T>A (p.Met251Lys) | |
20 | g.45947351T>C | CA9884598 | PCIF1 | c.1796T>C (p.Met599Thr) c.652T>C c.752T>C (p.Met251Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947351T>G | CA409230662 | PCIF1 | c.1796T>G (p.Met599Arg) c.652T>G c.752T>G (p.Met251Arg) | |
20 | g.45947351T= | CA2366447699 | PCIF1 | c.1796T= (p.Met599=) c.652T= c.752T= (p.Met251=) | |
20 | g.45947352G>A | CA409230666 | PCIF1 | c.1797G>A (p.Met599Ile) c.653G>A c.753G>A (p.Met251Ile) | |
20 | g.45947352G>C | CA409230667 | PCIF1 | c.1797G>C (p.Met599Ile) c.653G>C c.753G>C (p.Met251Ile) | |
20 | g.45947352G>T | CA409230669 | PCIF1 | c.1797G>T (p.Met599Ile) c.653G>T c.753G>T (p.Met251Ile) | |
20 | g.45947353G>A | CA409230675 | PCIF1 | c.1798G>A (p.Glu600Lys) c.654G>A c.754G>A (p.Glu252Lys) | gnomAD v4 |
20 | g.45947353G>C | CA409230671 | PCIF1 | c.1798G>C (p.Glu600Gln) c.654G>C c.754G>C (p.Glu252Gln) | gnomAD v4 |
20 | g.45947353G>T | CA409230673 | PCIF1 | c.1798G>T (p.Glu600Ter) c.654G>T c.754G>T (p.Glu252Ter) | |
20 | g.45947354A>C | CA409230677 | PCIF1 | c.1799A>C (p.Glu600Ala) c.655A>C c.755A>C (p.Glu252Ala) | |
20 | g.45947354A>G | CA409230678 | PCIF1 | c.1799A>G (p.Glu600Gly) c.655A>G c.755A>G (p.Glu252Gly) | |
20 | g.45947354A>T | CA409230680 | PCIF1 | c.1799A>T (p.Glu600Val) c.655A>T c.755A>T (p.Glu252Val) | |
20 | g.45947355G>A | CA510753499 | PCIF1 | c.1800G>A (p.Glu600=) c.656G>A c.756G>A (p.Glu252=) | dbSNP |
20 | g.45947355G>C | CA409230682 | PCIF1 | c.1800G>C (p.Glu600Asp) c.656G>C c.756G>C (p.Glu252Asp) | gnomAD v4 |
20 | g.45947355G= | CA2366447700 | PCIF1 | c.1800G= (p.Glu600=) c.656G= c.756G= (p.Glu252=) | |
20 | g.45947355G>T | CA409230684 | PCIF1 | c.1800G>T (p.Glu600Asp) c.656G>T c.756G>T (p.Glu252Asp) | |
20 | g.45947356C>A | CA409230686 | PCIF1 | c.1801C>A (p.Gln601Lys) c.657C>A c.757C>A (p.Gln253Lys) | |
20 | g.45947356C= | CA2366447701 | PCIF1 | c.1801C= (p.Gln601=) c.657C= c.757C= (p.Gln253=) | |
20 | g.45947356C>G | CA409230688 | PCIF1 | c.1801C>G (p.Gln601Glu) c.657C>G c.757C>G (p.Gln253Glu) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947356C>T | CA409230690 | PCIF1 | c.1801C>T (p.Gln601Ter) c.657C>T c.757C>T (p.Gln253Ter) | |
20 | g.45947357A>C | CA409230692 | PCIF1 | c.1802A>C (p.Gln601Pro) c.658A>C c.758A>C (p.Gln253Pro) | |
20 | g.45947357A>G | CA409230694 | PCIF1 | c.1802A>G (p.Gln601Arg) c.658A>G c.758A>G (p.Gln253Arg) | |
20 | g.45947357A>T | CA409230696 | PCIF1 | c.1802A>T (p.Gln601Leu) c.658A>T c.758A>T (p.Gln253Leu) | |
20 | g.45947358G>A | CA510753505 | PCIF1 | c.1803G>A (p.Gln601=) c.659G>A c.759G>A (p.Gln253=) | |
20 | g.45947358G>C | CA409230698 | PCIF1 | c.1803G>C (p.Gln601His) c.659G>C c.759G>C (p.Gln253His) | |
20 | g.45947358G>T | CA409230700 | PCIF1 | c.1803G>T (p.Gln601His) c.659G>T c.759G>T (p.Gln253His) | gnomAD v4 |
20 | g.45947359A>C | CA409230702 | PCIF1 | c.1804A>C (p.Ser602Arg) c.660A>C c.760A>C (p.Ser254Arg) | |
20 | g.45947359A>G | CA409230703 | PCIF1 | c.1804A>G (p.Ser602Gly) c.660A>G c.760A>G (p.Ser254Gly) | |
20 | g.45947359A>T | CA409230705 | PCIF1 | c.1804A>T (p.Ser602Cys) c.660A>T c.760A>T (p.Ser254Cys) | |
20 | g.45947360G>A | CA9884599 | PCIF1 | c.1805G>A (p.Ser602Asn) c.661G>A c.761G>A (p.Ser254Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947360G>C | CA409230707 | PCIF1 | c.1805G>C (p.Ser602Thr) c.661G>C c.761G>C (p.Ser254Thr) | |
20 | g.45947360G= | CA2366447702 | PCIF1 | c.1805G= (p.Ser602=) c.661G= c.761G= (p.Ser254=) | |
20 | g.45947360G>T | CA409230708 | PCIF1 | c.1805G>T (p.Ser602Ile) c.661G>T c.761G>T (p.Ser254Ile) | |
20 | g.45947361C>A | CA409230710 | PCIF1 | c.1806C>A (p.Ser602Arg) c.662C>A c.762C>A (p.Ser254Arg) | |
20 | g.45947361C>G | CA409230709 | PCIF1 | c.1806C>G (p.Ser602Arg) c.662C>G c.762C>G (p.Ser254Arg) | |
20 | g.45947361C>T | CA510753512 | PCIF1 | c.1806C>T (p.Ser602=) c.662C>T c.762C>T (p.Ser254=) | gnomAD v4 COSMIC |
20 | g.45947362C>A | CA409230712 | PCIF1 | c.1807C>A (p.Arg603Ser) c.663C>A c.763C>A (p.Arg255Ser) | |
20 | g.45947362C= | CA2366447703 | PCIF1 | c.1807C= (p.Arg603=) c.663C= c.763C= (p.Arg255=) | |
20 | g.45947362C>G | CA409230714 | PCIF1 | c.1807C>G (p.Arg603Gly) c.663C>G c.763C>G (p.Arg255Gly) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947362C>T | CA9884600 | PCIF1 | c.1807C>T (p.Arg603Cys) c.663C>T c.763C>T (p.Arg255Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947363G>A | CA9884601 | PCIF1 | c.1808G>A (p.Arg603His) c.664G>A c.764G>A (p.Arg255His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.45947363G>C | CA409230717 | PCIF1 | c.1808G>C (p.Arg603Pro) c.664G>C c.764G>C (p.Arg255Pro) | |
20 | g.45947363G= | CA2366447704 | PCIF1 | c.1808G= (p.Arg603=) c.664G= c.764G= (p.Arg255=) | |
20 | g.45947363G>T | CA409230720 | PCIF1 | c.1808G>T (p.Arg603Leu) c.664G>T c.764G>T (p.Arg255Leu) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947364C>A | CA510753517 | PCIF1 | c.1809C>A (p.Arg603=) c.665C>A c.765C>A (p.Arg255=) | |
20 | g.45947364C= | CA2366447705 | PCIF1 | c.1809C= (p.Arg603=) c.665C= c.765C= (p.Arg255=) | |
20 | g.45947364C>G | CA510753518 | PCIF1 | c.1809C>G (p.Arg603=) c.665C>G c.765C>G (p.Arg255=) | |
20 | g.45947364C>T | CA510753519 | PCIF1 | c.1809C>T (p.Arg603=) c.665C>T c.765C>T (p.Arg255=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947365T>A | CA9884602 | PCIF1 | c.1810T>A (p.Phe604Ile) c.666T>A c.766T>A (p.Phe256Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.45947365T>C | CA409230724 | PCIF1 | c.1810T>C (p.Phe604Leu) c.666T>C c.766T>C (p.Phe256Leu) | |
20 | g.45947365T>G | CA409230722 | PCIF1 | c.1810T>G (p.Phe604Val) c.666T>G c.766T>G (p.Phe256Val) | |
20 | g.45947365T= | CA2366447706 | PCIF1 | c.1810T= (p.Phe604=) c.666T= c.766T= (p.Phe256=) | |
20 | g.45947366T>A | CA409230726 | PCIF1 | c.1811T>A (p.Phe604Tyr) c.667T>A c.767T>A (p.Phe256Tyr) | gnomAD v4 |
20 | g.45947366T>C | CA409230728 | PCIF1 | c.1811T>C (p.Phe604Ser) c.667T>C c.767T>C (p.Phe256Ser) | |
20 | g.45947366T>G | CA409230730 | PCIF1 | c.1811T>G (p.Phe604Cys) c.667T>G c.767T>G (p.Phe256Cys) | |
20 | g.45947367C>A | CA409230732 | PCIF1 | c.1812C>A (p.Phe604Leu) c.668C>A c.768C>A (p.Phe256Leu) | |
20 | g.45947367C= | CA2366447707 | PCIF1 | c.1812C= (p.Phe604=) c.668C= c.768C= (p.Phe256=) | |
20 | g.45947367C>G | CA409230734 | PCIF1 | c.1812C>G (p.Phe604Leu) c.668C>G c.768C>G (p.Phe256Leu) | |
20 | g.45947367C>T | CA510753522 | PCIF1 | c.1812C>T (p.Phe604=) c.668C>T c.768C>T (p.Phe256=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947368A>C | CA409230735 | PCIF1 | c.1813A>C (p.Lys605Gln) c.669A>C c.769A>C (p.Lys257Gln) | |
20 | g.45947368A>G | CA409230736 | PCIF1 | c.1813A>G (p.Lys605Glu) c.669A>G c.769A>G (p.Lys257Glu) | |
20 | g.45947368A>T | CA409230737 | PCIF1 | c.1813A>T (p.Lys605Ter) c.669A>T c.769A>T (p.Lys257Ter) | |
20 | g.45947369A>C | CA409230738 | PCIF1 | c.1814A>C (p.Lys605Thr) c.670A>C c.770A>C (p.Lys257Thr) | |
20 | g.45947369A>G | CA409230739 | PCIF1 | c.1814A>G (p.Lys605Arg) c.670A>G c.770A>G (p.Lys257Arg) | gnomAD v4 |
20 | g.45947369A>T | CA409230740 | PCIF1 | c.1814A>T (p.Lys605Ile) c.670A>T c.770A>T (p.Lys257Ile) | |
20 | g.45947370A>C | CA409230742 | PCIF1 | c.1815A>C (p.Lys605Asn) c.671A>C c.771A>C (p.Lys257Asn) | |
20 | g.45947370A>G | CA510753529 | PCIF1 | c.1815A>G (p.Lys605=) c.671A>G c.771A>G (p.Lys257=) | |
20 | g.45947370A>T | CA409230741 | PCIF1 | c.1815A>T (p.Lys605Asn) c.671A>T c.771A>T (p.Lys257Asn) | |
20 | g.45947371C>A | CA409230743 | PCIF1 | c.1816C>A (p.Arg606Ser) c.672C>A c.772C>A (p.Arg258Ser) | |
20 | g.45947371C= | CA2366447708 | PCIF1 | c.1816C= (p.Arg606=) c.672C= c.772C= (p.Arg258=) | |
20 | g.45947371C>G | CA409230745 | PCIF1 | c.1816C>G (p.Arg606Gly) c.672C>G c.772C>G (p.Arg258Gly) | |
20 | g.45947371C>T | CA9884603 | PCIF1 | c.1816C>T (p.Arg606Cys) c.672C>T c.772C>T (p.Arg258Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947372G>A | CA9884604 | PCIF1 | c.1817G>A (p.Arg606His) c.673G>A c.773G>A (p.Arg258His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
20 | g.45947372G>C | CA409230750 | PCIF1 | c.1817G>C (p.Arg606Pro) c.673G>C c.773G>C (p.Arg258Pro) | |
20 | g.45947372G= | CA2366447709 | PCIF1 | c.1817G= (p.Arg606=) c.673G= c.773G= (p.Arg258=) | |
20 | g.45947372G>T | CA409230748 | PCIF1 | c.1817G>T (p.Arg606Leu) c.673G>T c.773G>T (p.Arg258Leu) | |
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) |