| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.45947625A= | CA2366447835 | PCIF1 | c.1985A= (p.Glu662=) c.926A= c.941A= (p.Glu314=) | |
| 20 | g.45947625A>C | CA409231342 | PCIF1 | c.1985A>C (p.Glu662Ala) c.926A>C c.941A>C (p.Glu314Ala) | dbSNP |
| 20 | g.45947625A>G | CA409231343 | PCIF1 | c.1985A>G (p.Glu662Gly) c.926A>G c.941A>G (p.Glu314Gly) | dbSNP |
| 20 | g.45947625A>T | CA409231344 | PCIF1 | c.1985A>T (p.Glu662Val) c.926A>T c.941A>T (p.Glu314Val) | |
| 20 | g.45947626G>A | CA510753672 | PCIF1 | c.1986G>A (p.Glu662=) c.927G>A c.942G>A (p.Glu314=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947626G>C | CA409231345 | PCIF1 | c.1986G>C (p.Glu662Asp) c.927G>C c.942G>C (p.Glu314Asp) | |
| 20 | g.45947626G= | CA2366447836 | PCIF1 | c.1986G= (p.Glu662=) c.927G= c.942G= (p.Glu314=) | |
| 20 | g.45947626G>T | CA409231346 | PCIF1 | c.1986G>T (p.Glu662Asp) c.927G>T c.942G>T (p.Glu314Asp) | |
| 20 | g.45947627C>A | CA409231347 | PCIF1 | c.1987C>A (p.Leu663Met) c.928C>A c.943C>A (p.Leu315Met) | |
| 20 | g.45947627C= | CA2366447837 | PCIF1 | c.1987C= (p.Leu663=) c.928C= c.943C= (p.Leu315=) | |
| 20 | g.45947627C>G | CA409231348 | PCIF1 | c.1987C>G (p.Leu663Val) c.928C>G c.943C>G (p.Leu315Val) | |
| 20 | g.45947627C>T | CA510753676 | PCIF1 | c.1987C>T (p.Leu663=) c.928C>T c.943C>T (p.Leu315=) | dbSNP |
| 20 | g.45947628T>A | CA409231349 | PCIF1 | c.1988T>A (p.Leu663Gln) c.929T>A c.944T>A (p.Leu315Gln) | |
| 20 | g.45947628T>C | CA409231350 | PCIF1 | c.1988T>C (p.Leu663Pro) c.929T>C c.944T>C (p.Leu315Pro) | |
| 20 | g.45947628T>G | CA409231351 | PCIF1 | c.1988T>G (p.Leu663Arg) c.929T>G c.944T>G (p.Leu315Arg) | |
| 20 | g.45947629G>A | CA510753678 | PCIF1 | c.1989G>A (p.Leu663=) c.930G>A c.945G>A (p.Leu315=) | |
| 20 | g.45947629G>C | CA510753680 | PCIF1 | c.1989G>C (p.Leu663=) c.930G>C c.945G>C (p.Leu315=) | |
| 20 | g.45947629G>T | CA510753681 | PCIF1 | c.1989G>T (p.Leu663=) c.930G>T c.945G>T (p.Leu315=) | |
| 20 | g.45947630A>C | CA409231352 | PCIF1 | c.1990A>C (p.Ser664Arg) c.931A>C c.946A>C (p.Ser316Arg) | |
| 20 | g.45947630A>G | CA409231353 | PCIF1 | c.1990A>G (p.Ser664Gly) c.931A>G c.946A>G (p.Ser316Gly) | |
| 20 | g.45947630A>T | CA409231354 | PCIF1 | c.1990A>T (p.Ser664Cys) c.931A>T c.946A>T (p.Ser316Cys) | |
| 20 | g.45947631G>A | CA409231356 | PCIF1 | c.1991G>A (p.Ser664Asn) c.932G>A c.947G>A (p.Ser316Asn) | |
| 20 | g.45947631G>C | CA409231355 | PCIF1 | c.1991G>C (p.Ser664Thr) c.932G>C c.947G>C (p.Ser316Thr) | |
| 20 | g.45947631G= | CA2366447838 | PCIF1 | c.1991G= (p.Ser664=) c.932G= c.947G= (p.Ser316=) | |
| 20 | g.45947631G>T | CA9884661 | PCIF1 | c.1991G>T (p.Ser664Ile) c.932G>T c.947G>T (p.Ser316Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947632T>A | CA409231357 | PCIF1 | c.1992T>A (p.Ser664Arg) c.933T>A c.948T>A (p.Ser316Arg) | |
| 20 | g.45947632T>C | CA510753683 | PCIF1 | c.1992T>C (p.Ser664=) c.933T>C c.948T>C (p.Ser316=) | gnomAD v4 |
| 20 | g.45947632T>G | CA409231358 | PCIF1 | c.1992T>G (p.Ser664Arg) c.933T>G c.948T>G (p.Ser316Arg) | |
| 20 | g.45947633G>A | CA409231359 | PCIF1 | c.1993G>A (p.Ala665Thr) c.934G>A c.949G>A (p.Ala317Thr) | |
| 20 | g.45947633G>C | CA409231360 | PCIF1 | c.1993G>C (p.Ala665Pro) c.934G>C c.949G>C (p.Ala317Pro) | |
| 20 | g.45947633G>T | CA409231361 | PCIF1 | c.1993G>T (p.Ala665Ser) c.934G>T c.949G>T (p.Ala317Ser) | gnomAD v4 |
| 20 | g.45947634C>A | CA409231362 | PCIF1 | c.1994C>A (p.Ala665Asp) c.935C>A c.950C>A (p.Ala317Asp) | |
| 20 | g.45947634C>G | CA409231363 | PCIF1 | c.1994C>G (p.Ala665Gly) c.935C>G c.950C>G (p.Ala317Gly) | |
| 20 | g.45947634C>T | CA409231364 | PCIF1 | c.1994C>T (p.Ala665Val) c.935C>T c.950C>T (p.Ala317Val) | gnomAD v4 |
| 20 | g.45947635T>A | CA510753687 | PCIF1 | c.1995T>A (p.Ala665=) c.936T>A c.951T>A (p.Ala317=) | |
| 20 | g.45947635T>C | CA510753688 | PCIF1 | c.1995T>C (p.Ala665=) c.936T>C c.951T>C (p.Ala317=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947635T>G | CA510753689 | PCIF1 | c.1995T>G (p.Ala665=) c.936T>G c.951T>G (p.Ala317=) | |
| 20 | g.45947635T= | CA2366447839 | PCIF1 | c.1995T= (p.Ala665=) c.936T= c.951T= (p.Ala317=) | |
| 20 | g.45947636G>A | CA409231365 | PCIF1 | c.1996G>A (p.Ala666Thr) c.937G>A c.952G>A (p.Ala318Thr) | gnomAD v4 |
| 20 | g.45947636G>C | CA409231366 | PCIF1 | c.1996G>C (p.Ala666Pro) c.937G>C c.952G>C (p.Ala318Pro) | |
| 20 | g.45947636G>T | CA409231367 | PCIF1 | c.1996G>T (p.Ala666Ser) c.937G>T c.952G>T (p.Ala318Ser) | |
| 20 | g.45947637C>A | CA409231368 | PCIF1 | c.1997C>A (p.Ala666Asp) c.938C>A c.953C>A (p.Ala318Asp) | gnomAD v4 |
| 20 | g.45947637C>G | CA409231369 | PCIF1 | c.1997C>G (p.Ala666Gly) c.938C>G c.953C>G (p.Ala318Gly) | |
| 20 | g.45947637C>T | CA409231370 | PCIF1 | c.1997C>T (p.Ala666Val) c.938C>T c.953C>T (p.Ala318Val) | |
| 20 | g.45947638C>A | CA510753690 | PCIF1 | c.1998C>A (p.Ala666=) c.939C>A c.954C>A (p.Ala318=) | |
| 20 | g.45947638C= | CA2366447840 | PCIF1 | c.1998C= (p.Ala666=) c.939C= c.954C= (p.Ala318=) | |
| 20 | g.45947638C>G | CA510753691 | PCIF1 | c.1998C>G (p.Ala666=) c.939C>G c.954C>G (p.Ala318=) | |
| 20 | g.45947638C>T | CA315641112 | PCIF1 | c.1998C>T (p.Ala666=) c.939C>T c.954C>T (p.Ala318=) | dbSNP gnomAD v4 |
| 20 | g.45947639T>A | CA409231372 | PCIF1 | c.1999T>A (p.Tyr667Asn) c.940T>A c.955T>A (p.Tyr319Asn) | |
| 20 | g.45947639T>C | CA409231373 | PCIF1 | c.1999T>C (p.Tyr667His) c.940T>C c.955T>C (p.Tyr319His) | dbSNP |
| 20 | g.45947639T>G | CA409231371 | PCIF1 | c.1999T>G (p.Tyr667Asp) c.940T>G c.955T>G (p.Tyr319Asp) | |
| 20 | g.45947639T= | CA2366447841 | PCIF1 | c.1999T= (p.Tyr667=) c.940T= c.955T= (p.Tyr319=) | |
| 20 | g.45947640A= | CA2366447842 | PCIF1 | c.2000A= (p.Tyr667=) c.941A= c.956A= (p.Tyr319=) | |
| 20 | g.45947640A>C | CA315641117 | PCIF1 | c.2000A>C (p.Tyr667Ser) c.941A>C c.956A>C (p.Tyr319Ser) | dbSNP gnomAD v4 |
| 20 | g.45947640A>G | CA409231374 | PCIF1 | c.2000A>G (p.Tyr667Cys) c.941A>G c.956A>G (p.Tyr319Cys) | gnomAD v4 |
| 20 | g.45947640A>T | CA409231375 | PCIF1 | c.2000A>T (p.Tyr667Phe) c.941A>T c.956A>T (p.Tyr319Phe) | |
| 20 | g.45947641C>A | CA409231376 | PCIF1 | c.2001C>A (p.Tyr667Ter) c.942C>A c.957C>A (p.Tyr319Ter) | |
| 20 | g.45947641C>G | CA409231377 | PCIF1 | c.2001C>G (p.Tyr667Ter) c.942C>G c.957C>G (p.Tyr319Ter) | |
| 20 | g.45947641C>T | CA510753693 | PCIF1 | c.2001C>T (p.Tyr667=) c.942C>T c.957C>T (p.Tyr319=) | |
| 20 | g.45947642C>A | CA510753694 | PCIF1 | c.2002C>A (p.Arg668=) c.943C>A c.958C>A (p.Arg320=) | gnomAD v4 |
| 20 | g.45947642C= | CA2366447843 | PCIF1 | c.2002C= (p.Arg668=) c.943C= c.958C= (p.Arg320=) | |
| 20 | g.45947642C>G | CA409231378 | PCIF1 | c.2002C>G (p.Arg668Gly) c.943C>G c.958C>G (p.Arg320Gly) | |
| 20 | g.45947642C>T | CA9884662 | PCIF1 | c.2002C>T (p.Arg668Trp) c.943C>T c.958C>T (p.Arg320Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947643G>A | CA9884664 | PCIF1 | c.2003G>A (p.Arg668Gln) c.944G>A c.959G>A (p.Arg320Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947643G>C | CA409231379 | PCIF1 | c.2003G>C (p.Arg668Pro) c.944G>C c.959G>C (p.Arg320Pro) | |
| 20 | g.45947643G= | CA2366447844 | PCIF1 | c.2003G= (p.Arg668=) c.944G= c.959G= (p.Arg320=) | |
| 20 | g.45947643G>T | CA9884663 | PCIF1 | c.2003G>T (p.Arg668Leu) c.944G>T c.959G>T (p.Arg320Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947644G>A | CA510753699 | PCIF1 | c.2004G>A (p.Arg668=) c.945G>A c.960G>A (p.Arg320=) | |
| 20 | g.45947644G>C | CA510753697 | PCIF1 | c.2004G>C (p.Arg668=) c.945G>C c.960G>C (p.Arg320=) | |
| 20 | g.45947644G>T | CA510753698 | PCIF1 | c.2004G>T (p.Arg668=) c.945G>T c.960G>T (p.Arg320=) | |
| 20 | g.45947645C>A | CA409231380 | PCIF1 | c.2005C>A (p.Gln669Lys) c.946C>A c.961C>A (p.Gln321Lys) | |
| 20 | g.45947645C>G | CA409231381 | PCIF1 | c.2005C>G (p.Gln669Glu) c.946C>G c.961C>G (p.Gln321Glu) | |
| 20 | g.45947645C>T | CA409231382 | PCIF1 | c.2005C>T (p.Gln669Ter) c.946C>T c.961C>T (p.Gln321Ter) | |
| 20 | g.45947646A>C | CA409231383 | PCIF1 | c.2006A>C (p.Gln669Pro) c.947A>C c.962A>C (p.Gln321Pro) | |
| 20 | g.45947646A>G | CA409231385 | PCIF1 | c.2006A>G (p.Gln669Arg) c.947A>G c.962A>G (p.Gln321Arg) | |
| 20 | g.45947646A>T | CA409231384 | PCIF1 | c.2006A>T (p.Gln669Leu) c.947A>T c.962A>T (p.Gln321Leu) | |
| 20 | g.45947647G>A | CA510753703 | PCIF1 | c.2007G>A (p.Gln669=) c.948G>A c.963G>A (p.Gln321=) | |
| 20 | g.45947647G>C | CA409231386 | PCIF1 | c.2007G>C (p.Gln669His) c.948G>C c.963G>C (p.Gln321His) | |
| 20 | g.45947647G>T | CA409231387 | PCIF1 | c.2007G>T (p.Gln669His) c.948G>T c.963G>T (p.Gln321His) | |
| 20 | g.45947648T>A | CA409231388 | PCIF1 | c.2008T>A (p.Ser670Thr) c.949T>A c.964T>A (p.Ser322Thr) | |
| 20 | g.45947648T>C | CA409231389 | PCIF1 | c.2008T>C (p.Ser670Pro) c.949T>C c.964T>C (p.Ser322Pro) | |
| 20 | g.45947648T>G | CA409231390 | PCIF1 | c.2008T>G (p.Ser670Ala) c.949T>G c.964T>G (p.Ser322Ala) | gnomAD v4 |
| 20 | g.45947649C>A | CA409231391 | PCIF1 | c.2009C>A (p.Ser670Ter) c.950C>A c.965C>A (p.Ser322Ter) | |
| 20 | g.45947649C= | CA2366447845 | PCIF1 | c.2009C= (p.Ser670=) c.950C= c.965C= (p.Ser322=) | |
| 20 | g.45947649C>G | CA409231392 | PCIF1 | c.2009C>G (p.Ser670Ter) c.950C>G c.965C>G (p.Ser322Ter) | COSMIC |
| 20 | g.45947649C>T | CA409231393 | PCIF1 | c.2009C>T (p.Ser670Leu) c.950C>T c.965C>T (p.Ser322Leu) | dbSNP |
| 20 | g.45947650A= | CA2366447846 | PCIF1 | c.2010A= (p.Ser670=) c.951A= c.966A= (p.Ser322=) | |
| 20 | g.45947650A>C | CA510753707 | PCIF1 | c.2010A>C (p.Ser670=) c.951A>C c.966A>C (p.Ser322=) | |
| 20 | g.45947650A>G | CA510753709 | PCIF1 | c.2010A>G (p.Ser670=) c.951A>G c.966A>G (p.Ser322=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947650A>T | CA510753708 | PCIF1 | c.2010A>T (p.Ser670=) c.951A>T c.966A>T (p.Ser322=) | |
| 20 | g.45947651G>A | CA409231394 | PCIF1 | c.2011G>A (p.Gly671Ser) c.952G>A c.967G>A (p.Gly323Ser) | gnomAD v4 |
| 20 | g.45947651G>C | CA409231395 | PCIF1 | c.2011G>C (p.Gly671Arg) c.952G>C c.967G>C (p.Gly323Arg) | |
| 20 | g.45947651G>T | CA409231396 | PCIF1 | c.2011G>T (p.Gly671Cys) c.952G>T c.967G>T (p.Gly323Cys) | |
| 20 | g.45947652G>A | CA9884665 | PCIF1 | c.2012G>A (p.Gly671Asp) c.953G>A c.968G>A (p.Gly323Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947652G>C | CA409231398 | PCIF1 | c.2012G>C (p.Gly671Ala) c.953G>C c.968G>C (p.Gly323Ala) | |
| 20 | g.45947652G= | CA2366447847 | PCIF1 | c.2012G= (p.Gly671=) c.953G= c.968G= (p.Gly323=) | |
| 20 | g.45947652G>T | CA409231397 | PCIF1 | c.2012G>T (p.Gly671Val) c.953G>T c.968G>T (p.Gly323Val) | gnomAD v4 |
| 20 | g.45947653C>A | CA510753711 | PCIF1 | c.2013C>A (p.Gly671=) c.954C>A c.969C>A (p.Gly323=) | |
| 20 | g.45947653C= | CA2366447848 | PCIF1 | c.2013C= (p.Gly671=) c.954C= c.969C= (p.Gly323=) | |
| 20 | g.45947653C>G | CA510753712 | PCIF1 | c.2013C>G (p.Gly671=) c.954C>G c.969C>G (p.Gly323=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947653C>T | CA510753713 | PCIF1 | c.2013C>T (p.Gly671=) c.954C>T c.969C>T (p.Gly323=) | gnomAD v4 |
| 20 | g.45947654C>A | CA409231399 | PCIF1 | c.2014C>A (p.Arg672Ser) c.955C>A c.970C>A (p.Arg324Ser) | |
| 20 | g.45947654C= | CA2366447849 | PCIF1 | c.2014C= (p.Arg672=) c.955C= c.970C= (p.Arg324=) | |
| 20 | g.45947654C>G | CA409231400 | PCIF1 | c.2014C>G (p.Arg672Gly) c.955C>G c.970C>G (p.Arg324Gly) | dbSNP |
| 20 | g.45947654C>T | CA9884666 | PCIF1 | c.2014C>T (p.Arg672Cys) c.955C>T c.970C>T (p.Arg324Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947655G>A | CA9884667 | PCIF1 | c.2015G>A (p.Arg672His) c.956G>A c.971G>A (p.Arg324His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.45947655G>C | CA409231402 | PCIF1 | c.2015G>C (p.Arg672Pro) c.956G>C c.971G>C (p.Arg324Pro) | |
| 20 | g.45947655G= | CA2366447850 | PCIF1 | c.2015G= (p.Arg672=) c.956G= c.971G= (p.Arg324=) | |
| 20 | g.45947655G>T | CA409231401 | PCIF1 | c.2015G>T (p.Arg672Leu) c.956G>T c.971G>T (p.Arg324Leu) | gnomAD v4 |
| 20 | g.45947656C>A | CA510753714 | PCIF1 | c.2016C>A (p.Arg672=) c.957C>A c.972C>A (p.Arg324=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947656C= | CA2366447851 | PCIF1 | c.2016C= (p.Arg672=) c.957C= c.972C= (p.Arg324=) | |
| 20 | g.45947656C>G | CA510753715 | PCIF1 | c.2016C>G (p.Arg672=) c.957C>G c.972C>G (p.Arg324=) | |
| 20 | g.45947656C>T | CA510753716 | PCIF1 | c.2016C>T (p.Arg672=) c.957C>T c.972C>T (p.Arg324=) | gnomAD v4 |
| 20 | g.45947660_45947665dup | CA2653107420 | PCIF1 | c.2020_2025dup (p.Ser675_Ser676insHisSer) c.961_966dup c.976_981dup (p.Ser327_Ser328insHisSer) | gnomAD v4 |
| 20 | g.45947657A>C | CA409231403 | PCIF1 | c.2017A>C (p.Ser673Arg) c.958A>C c.973A>C (p.Ser325Arg) | |
| 20 | g.45947657A>G | CA409231405 | PCIF1 | c.2017A>G (p.Ser673Gly) c.958A>G c.973A>G (p.Ser325Gly) | COSMIC |
| 20 | g.45947657A>T | CA409231404 | PCIF1 | c.2017A>T (p.Ser673Cys) c.958A>T c.973A>T (p.Ser325Cys) | |
| 20 | g.45947658G>A | CA9884668 | PCIF1 | c.2018G>A (p.Ser673Asn) c.959G>A c.974G>A (p.Ser325Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947658G>C | CA9884669 | PCIF1 | c.2018G>C (p.Ser673Thr) c.959G>C c.974G>C (p.Ser325Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947658G= | CA2366447852 | PCIF1 | c.2018G= (p.Ser673=) c.959G= c.974G= (p.Ser325=) | |
| 20 | g.45947658G>T | CA409231406 | PCIF1 | c.2018G>T (p.Ser673Ile) c.959G>T c.974G>T (p.Ser325Ile) | |
| 20 | g.45947659C>A | CA409231407 | PCIF1 | c.2019C>A (p.Ser673Arg) c.960C>A c.975C>A (p.Ser325Arg) | |
| 20 | g.45947659C= | CA2366447853 | PCIF1 | c.2019C= (p.Ser673=) c.960C= c.975C= (p.Ser325=) | |
| 20 | g.45947659C>G | CA409231408 | PCIF1 | c.2019C>G (p.Ser673Arg) c.960C>G c.975C>G (p.Ser325Arg) | |
| 20 | g.45947659C>T | CA510753720 | PCIF1 | c.2019C>T (p.Ser673=) c.960C>T c.975C>T (p.Ser325=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947660C>A | CA409231409 | PCIF1 | c.2020C>A (p.His674Asn) c.961C>A c.976C>A (p.His326Asn) | |
| 20 | g.45947660C= | CA2366447854 | PCIF1 | c.2020C= (p.His674=) c.961C= c.976C= (p.His326=) | |
| 20 | g.45947660C>G | CA409231410 | PCIF1 | c.2020C>G (p.His674Asp) c.961C>G c.976C>G (p.His326Asp) | |
| 20 | g.45947660C>T | CA409231411 | PCIF1 | c.2020C>T (p.His674Tyr) c.961C>T c.976C>T (p.His326Tyr) | dbSNP |
| 20 | g.45947661A>C | CA409231412 | PCIF1 | c.2021A>C (p.His674Pro) c.962A>C c.977A>C (p.His326Pro) | |
| 20 | g.45947661A>G | CA409231413 | PCIF1 | c.2021A>G (p.His674Arg) c.962A>G c.977A>G (p.His326Arg) | |
| 20 | g.45947661A>T | CA409231414 | PCIF1 | c.2021A>T (p.His674Leu) c.962A>T c.977A>T (p.His326Leu) | |
| 20 | g.45947661_45947666dup | CA2653107438 | PCIF1 | c.2021_2026dup (p.Ser675_Ser676insTyrSer) c.962_967dup c.977_982dup (p.Ser327_Ser328insTyrSer) | gnomAD v4 |
| 20 | g.45947662C>A | CA409231415 | PCIF1 | c.2022C>A (p.His674Gln) c.963C>A c.978C>A (p.His326Gln) | |
| 20 | g.45947662C>G | CA409231416 | PCIF1 | c.2022C>G (p.His674Gln) c.963C>G c.978C>G (p.His326Gln) | |
| 20 | g.45947662C>T | CA510753724 | PCIF1 | c.2022C>T (p.His674=) c.963C>T c.978C>T (p.His326=) | |
| 20 | g.45947663A>C | CA409231419 | PCIF1 | c.2023A>C (p.Ser675Arg) c.964A>C c.979A>C (p.Ser327Arg) | gnomAD v4 |
| 20 | g.45947663A>G | CA409231418 | PCIF1 | c.2023A>G (p.Ser675Gly) c.964A>G c.979A>G (p.Ser327Gly) | |
| 20 | g.45947663A>T | CA409231417 | PCIF1 | c.2023A>T (p.Ser675Cys) c.964A>T c.979A>T (p.Ser327Cys) | |
| 20 | g.45947664G>A | CA409231420 | PCIF1 | c.2024G>A (p.Ser675Asn) c.965G>A c.980G>A (p.Ser327Asn) | |
| 20 | g.45947664G>C | CA409231421 | PCIF1 | c.2024G>C (p.Ser675Thr) c.965G>C c.980G>C (p.Ser327Thr) | |
| 20 | g.45947664G>T | CA409231422 | PCIF1 | c.2024G>T (p.Ser675Ile) c.965G>T c.980G>T (p.Ser327Ile) | |
| 20 | g.45947665C>A | CA409231423 | PCIF1 | c.2025C>A (p.Ser675Arg) c.966C>A c.981C>A (p.Ser327Arg) | |
| 20 | g.45947665C= | CA2366447855 | PCIF1 | c.2025C= (p.Ser675=) c.966C= c.981C= (p.Ser327=) | |
| 20 | g.45947665C>G | CA409231424 | PCIF1 | c.2025C>G (p.Ser675Arg) c.966C>G c.981C>G (p.Ser327Arg) | |
| 20 | g.45947665C>T | CA510753726 | PCIF1 | c.2025C>T (p.Ser675=) c.966C>T c.981C>T (p.Ser327=) | dbSNP gnomAD v4 |
| 20 | g.45947666T>A | CA409231425 | PCIF1 | c.2026T>A (p.Ser676Thr) c.967T>A c.982T>A (p.Ser328Thr) | |
| 20 | g.45947666T>C | CA409231426 | PCIF1 | c.2026T>C (p.Ser676Pro) c.967T>C c.982T>C (p.Ser328Pro) | |
| 20 | g.45947666T>G | CA409231427 | PCIF1 | c.2026T>G (p.Ser676Ala) c.967T>G c.982T>G (p.Ser328Ala) | |
| 20 | g.45947667C>A | CA409231428 | PCIF1 | c.2027C>A (p.Ser676Tyr) c.968C>A c.983C>A (p.Ser328Tyr) | |
| 20 | g.45947667C>G | CA409231429 | PCIF1 | c.2027C>G (p.Ser676Cys) c.968C>G c.983C>G (p.Ser328Cys) | gnomAD v4 |
| 20 | g.45947667C>T | CA409231430 | PCIF1 | c.2027C>T (p.Ser676Phe) c.968C>T c.983C>T (p.Ser328Phe) | |
| 20 | g.45947668T>A | CA510753732 | PCIF1 | c.2028T>A (p.Ser676=) c.969T>A c.984T>A (p.Ser328=) | |
| 20 | g.45947668T>C | CA510753733 | PCIF1 | c.2028T>C (p.Ser676=) c.969T>C c.984T>C (p.Ser328=) | |
| 20 | g.45947668T>G | CA510753734 | PCIF1 | c.2028T>G (p.Ser676=) c.969T>G c.984T>G (p.Ser328=) | |
| 20 | g.45947669G>A | CA409231431 | PCIF1 | c.2029G>A (p.Gly677Ser) c.970G>A c.985G>A (p.Gly329Ser) | |
| 20 | g.45947669G>C | CA409231432 | PCIF1 | c.2029G>C (p.Gly677Arg) c.970G>C c.985G>C (p.Gly329Arg) | |
| 20 | g.45947669G= | CA2366447856 | PCIF1 | c.2029G= (p.Gly677=) c.970G= c.985G= (p.Gly329=) | |
| 20 | g.45947669G>T | CA9884670 | PCIF1 | c.2029G>T (p.Gly677Cys) c.970G>T c.985G>T (p.Gly329Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947669_45947671delinsGGT | CA2366447857 | PCIF1 | c.2029_2031delinsGGT (p.Gly677=) c.970_972delinsGGT c.985_987delinsGGT (p.Gly329=) | |
| 20 | g.45947670G>A | CA409231433 | PCIF1 | c.2030G>A (p.Gly677Asp) c.971G>A c.986G>A (p.Gly329Asp) | |
| 20 | g.45947670G>C | CA9884671 | PCIF1 | c.2030G>C (p.Gly677Ala) c.971G>C c.986G>C (p.Gly329Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947670G= | CA2366447859 | PCIF1 | c.2030G= (p.Gly677=) c.971G= c.986G= (p.Gly329=) | |
| 20 | g.45947670G>T | CA9884672 | PCIF1 | c.2030G>T (p.Gly677Val) c.971G>T c.986G>T (p.Gly329Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947670_45947671del | CA2366447858 | PCIF1 | c.2030_2031del (p.Gly677ValfsTer17) c.971_972del c.986_987del (p.Gly329ValfsTer17) | dbSNP |
| 20 | g.45947671T>A | CA510753742 | PCIF1 | c.2031T>A (p.Gly677=) c.972T>A c.987T>A (p.Gly329=) | |
| 20 | g.45947671T>C | CA510753743 | PCIF1 | c.2031T>C (p.Gly677=) c.972T>C c.987T>C (p.Gly329=) | |
| 20 | g.45947671T>G | CA510753741 | PCIF1 | c.2031T>G (p.Gly677=) c.972T>G c.987T>G (p.Gly329=) | |
| 20 | g.45947672T>A | CA409231434 | PCIF1 | c.2032T>A (p.Ser678Thr) c.973T>A c.988T>A (p.Ser330Thr) | |
| 20 | g.45947672T>C | CA409231435 | PCIF1 | c.2032T>C (p.Ser678Pro) c.973T>C c.988T>C (p.Ser330Pro) | |
| 20 | g.45947672T>G | CA409231436 | PCIF1 | c.2032T>G (p.Ser678Ala) c.973T>G c.988T>G (p.Ser330Ala) | |
| 20 | g.45947673C>A | CA409231437 | PCIF1 | c.2033C>A (p.Ser678Tyr) c.974C>A c.989C>A (p.Ser330Tyr) | |
| 20 | g.45947673C= | CA2366447860 | PCIF1 | c.2033C= (p.Ser678=) c.974C= c.989C= (p.Ser330=) | |
| 20 | g.45947673C>G | CA409231438 | PCIF1 | c.2033C>G (p.Ser678Cys) c.974C>G c.989C>G (p.Ser330Cys) | |
| 20 | g.45947673C>T | CA409231439 | PCIF1 | c.2033C>T (p.Ser678Phe) c.974C>T c.989C>T (p.Ser330Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947673_45947674insGG | CA2366447861 | PCIF1 | c.2033_2034insGG (p.Ser679ValfsTer?) c.974_975insGG c.989_990insGG (p.Ser331ValfsTer?) | dbSNP |
| 20 | g.45947674T>A | CA510753747 | PCIF1 | c.2034T>A (p.Ser678=) c.975T>A c.990T>A (p.Ser330=) | |
| 20 | g.45947674T>C | CA510753746 | PCIF1 | c.2034T>C (p.Ser678=) c.975T>C c.990T>C (p.Ser330=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947674T>G | CA510753745 | PCIF1 | c.2034T>G (p.Ser678=) c.975T>G c.990T>G (p.Ser330=) | |
| 20 | g.45947674T= | CA2366447862 | PCIF1 | c.2034T= (p.Ser678=) c.975T= c.990T= (p.Ser330=) | |
| 20 | g.45947675T>A | CA409231440 | PCIF1 | c.2035T>A (p.Ser679Thr) c.976T>A c.991T>A (p.Ser331Thr) | |
| 20 | g.45947675T>C | CA409231441 | PCIF1 | c.2035T>C (p.Ser679Pro) c.976T>C c.991T>C (p.Ser331Pro) | |
| 20 | g.45947675T>G | CA409231442 | PCIF1 | c.2035T>G (p.Ser679Ala) c.976T>G c.991T>G (p.Ser331Ala) | |
| 20 | g.45947677_45947679del | CA2816513959 | PCIF1 | c.2037_2039del (p.Ser680del) c.978_980del c.993_995del (p.Ser332del) | |
| 20 | g.45947676C>A | CA409231445 | PCIF1 | c.2036C>A (p.Ser679Tyr) c.977C>A c.992C>A (p.Ser331Tyr) | |
| 20 | g.45947676C= | CA2366447863 | PCIF1 | c.2036C= (p.Ser679=) c.977C= c.992C= (p.Ser331=) | |
| 20 | g.45947676C>G | CA409231443 | PCIF1 | c.2036C>G (p.Ser679Cys) c.977C>G c.992C>G (p.Ser331Cys) | |
| 20 | g.45947676C>T | CA409231444 | PCIF1 | c.2036C>T (p.Ser679Phe) c.977C>T c.992C>T (p.Ser331Phe) | dbSNP |
| 20 | g.45947677C>A | CA510753749 | PCIF1 | c.2037C>A (p.Ser679=) c.978C>A c.993C>A (p.Ser331=) | |
| 20 | g.45947677C= | CA2366447864 | PCIF1 | c.2037C= (p.Ser679=) c.978C= c.993C= (p.Ser331=) | |
| 20 | g.45947677C>G | CA510753753 | PCIF1 | c.2037C>G (p.Ser679=) c.978C>G c.993C>G (p.Ser331=) | |
| 20 | g.45947677C>T | CA9884673 | PCIF1 | c.2037C>T (p.Ser679=) c.978C>T c.993C>T (p.Ser331=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947678T>A | CA409231446 | PCIF1 | c.2038T>A (p.Ser680Thr) c.979T>A c.994T>A (p.Ser332Thr) | |
| 20 | g.45947678T>C | CA409231447 | PCIF1 | c.2038T>C (p.Ser680Pro) c.979T>C c.994T>C (p.Ser332Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947678T>G | CA409231448 | PCIF1 | c.2038T>G (p.Ser680Ala) c.979T>G c.994T>G (p.Ser332Ala) | |
| 20 | g.45947678T= | CA2366447865 | PCIF1 | c.2038T= (p.Ser680=) c.979T= c.994T= (p.Ser332=) | |
| 20 | g.45947679C>A | CA409231449 | PCIF1 | c.2039C>A (p.Ser680Ter) c.980C>A c.995C>A (p.Ser332Ter) | |
| 20 | g.45947679C>G | CA409231450 | PCIF1 | c.2039C>G (p.Ser680Ter) c.980C>G c.995C>G (p.Ser332Ter) | |
| 20 | g.45947679C>T | CA409231451 | PCIF1 | c.2039C>T (p.Ser680Leu) c.980C>T c.995C>T (p.Ser332Leu) | |
| 20 | g.45947680A>C | CA510753754 | PCIF1 | c.2040A>C (p.Ser680=) c.981A>C c.996A>C (p.Ser332=) | |
| 20 | g.45947680A>G | CA510753755 | PCIF1 | c.2040A>G (p.Ser680=) c.981A>G c.996A>G (p.Ser332=) | |
| 20 | g.45947680A>T | CA510753758 | PCIF1 | c.2040A>T (p.Ser680=) c.981A>T c.996A>T (p.Ser332=) | |
| 20 | g.45947681T>A | CA409231452 | PCIF1 | c.2041T>A (p.Ser681Thr) c.982T>A c.997T>A (p.Ser333Thr) | |
| 20 | g.45947681T>C | CA409231453 | PCIF1 | c.2041T>C (p.Ser681Pro) c.982T>C c.997T>C (p.Ser333Pro) | |
| 20 | g.45947681T>G | CA409231454 | PCIF1 | c.2041T>G (p.Ser681Ala) c.982T>G c.997T>G (p.Ser333Ala) | |
| 20 | g.45947682C>A | CA409231455 | PCIF1 | c.2042C>A (p.Ser681Ter) c.983C>A c.998C>A (p.Ser333Ter) | |
| 20 | g.45947682C= | CA2366447866 | PCIF1 | c.2042C= (p.Ser681=) c.983C= c.998C= (p.Ser333=) | |
| 20 | g.45947682C>G | CA409231456 | PCIF1 | c.2042C>G (p.Ser681Trp) c.983C>G c.998C>G (p.Ser333Trp) | |
| 20 | g.45947682C>T | CA409231457 | PCIF1 | c.2042C>T (p.Ser681Leu) c.983C>T c.998C>T (p.Ser333Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947683G>A | CA9884675 | PCIF1 | c.2043G>A (p.Ser681=) c.984G>A c.999G>A (p.Ser333=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947683G>C | CA9884674 | PCIF1 | c.2043G>C (p.Ser681=) c.984G>C c.999G>C (p.Ser333=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947683G= | CA2366447868 | PCIF1 | c.2043G= (p.Ser681=) c.984G= c.999G= (p.Ser333=) | |
| 20 | g.45947683G>T | CA510753438 | PCIF1 | c.2043G>T (p.Ser681=) c.984G>T c.999G>T (p.Ser333=) | |
| 20 | g.45947683_45947686delinsGTCC | CA2366447867 | PCIF1 | c.2043_2046delinsGTCC (p.Ser681=) c.984_987delinsGTCC c.999_1002delinsGTCC (p.Ser333=) | |
| 20 | g.45947684T>A | CA409231458 | PCIF1 | c.2044T>A (p.Ser682Thr) c.985T>A c.1000T>A (p.Ser334Thr) | gnomAD v4 |
| 20 | g.45947684T>C | CA409231460 | PCIF1 | c.2044T>C (p.Ser682Pro) c.985T>C c.1000T>C (p.Ser334Pro) | |
| 20 | g.45947684T>G | CA409231459 | PCIF1 | c.2044T>G (p.Ser682Ala) c.985T>G c.1000T>G (p.Ser334Ala) | |
| 20 | g.45947684T= | CA2366447869 | PCIF1 | c.2044T= (p.Ser682=) c.985T= c.1000T= (p.Ser334=) | |
| 20 | g.45947689_45947691del | CA920221985 | PCIF1 | c.2049_2051del (p.Ser684del) c.990_992del c.1005_1007del (p.Ser336del) | dbSNP gnomAD v4 |
| 20 | g.45947685C>A | CA409231461 | PCIF1 | c.2045C>A (p.Ser682Tyr) c.986C>A c.1001C>A (p.Ser334Tyr) | |
| 20 | g.45947685C>G | CA409231462 | PCIF1 | c.2045C>G (p.Ser682Cys) c.986C>G c.1001C>G (p.Ser334Cys) | |
| 20 | g.45947685C>T | CA409231463 | PCIF1 | c.2045C>T (p.Ser682Phe) c.986C>T c.1001C>T (p.Ser334Phe) | |
| 20 | g.45947698_45947699insGGACTTAACAGGGCCTCCTCGGAGGCC | CA2366447870 | PCIF1 | c.2058_2059insGGACTTAACAGGGCCTCCTCGGAGGCC (p.Ala686_Lys687insGlyLeuAsnArgAlaSerSerGluAla) c.999_1000insGGACTTAACAGGGCCTCCTCGGAGGCC c.1014_1015insGGACTTAACAGGGCCTCCTCGGAGGCC (p.Ala338_Lys339insGlyLeuAsnArgAlaSerSerGluAla) | dbSNP |
| 20 | g.45947686C>A | CA510753444 | PCIF1 | c.2046C>A (p.Ser682=) c.987C>A c.1002C>A (p.Ser334=) | |
| 20 | g.45947686C= | CA2366447871 | PCIF1 | c.2046C= (p.Ser682=) c.987C= c.1002C= (p.Ser334=) | |
| 20 | g.45947686C>G | CA9884676 | PCIF1 | c.2046C>G (p.Ser682=) c.987C>G c.1002C>G (p.Ser334=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947686C>T | CA510753446 | PCIF1 | c.2046C>T (p.Ser682=) c.987C>T c.1002C>T (p.Ser334=) | |
| 20 | g.45947687T>A | CA409231464 | PCIF1 | c.2047T>A (p.Ser683Thr) c.988T>A c.1003T>A (p.Ser335Thr) | |
| 20 | g.45947687T>C | CA409231465 | PCIF1 | c.2047T>C (p.Ser683Pro) c.988T>C c.1003T>C (p.Ser335Pro) | |
| 20 | g.45947687T>G | CA409231466 | PCIF1 | c.2047T>G (p.Ser683Ala) c.988T>G c.1003T>G (p.Ser335Ala) | |
| 20 | g.45947688C>A | CA409231467 | PCIF1 | c.2048C>A (p.Ser683Tyr) c.989C>A c.1004C>A (p.Ser335Tyr) | |
| 20 | g.45947688C>G | CA409231468 | PCIF1 | c.2048C>G (p.Ser683Cys) c.989C>G c.1004C>G (p.Ser335Cys) | gnomAD v4 |
| 20 | g.45947688C>T | CA409231469 | PCIF1 | c.2048C>T (p.Ser683Phe) c.989C>T c.1004C>T (p.Ser335Phe) | gnomAD v4 |
| 20 | g.45947689C>A | CA510753452 | PCIF1 | c.2049C>A (p.Ser683=) c.990C>A c.1005C>A (p.Ser335=) | |
| 20 | g.45947689C= | CA2366447872 | PCIF1 | c.2049C= (p.Ser683=) c.990C= c.1005C= (p.Ser335=) | |
| 20 | g.45947689C>G | CA510753454 | PCIF1 | c.2049C>G (p.Ser683=) c.990C>G c.1005C>G (p.Ser335=) | |
| 20 | g.45947689C>T | CA510753456 | PCIF1 | c.2049C>T (p.Ser683=) c.990C>T c.1005C>T (p.Ser335=) | dbSNP gnomAD v4 |
| 20 | g.45947690T>A | CA409231472 | PCIF1 | c.2050T>A (p.Ser684Thr) c.991T>A c.1006T>A (p.Ser336Thr) | |
| 20 | g.45947690T>C | CA409231471 | PCIF1 | c.2050T>C (p.Ser684Pro) c.991T>C c.1006T>C (p.Ser336Pro) | |
| 20 | g.45947690T>G | CA409231470 | PCIF1 | c.2050T>G (p.Ser684Ala) c.991T>G c.1006T>G (p.Ser336Ala) | |
| 20 | g.45947691C>A | CA409231473 | PCIF1 | c.2051C>A (p.Ser684Ter) c.992C>A c.1007C>A (p.Ser336Ter) | |
| 20 | g.45947691C= | CA2366447873 | PCIF1 | c.2051C= (p.Ser684=) c.992C= c.1007C= (p.Ser336=) | |
| 20 | g.45947691C>G | CA409231474 | PCIF1 | c.2051C>G (p.Ser684Trp) c.992C>G c.1007C>G (p.Ser336Trp) | gnomAD v4 |
| 20 | g.45947691C>T | CA9884677 | PCIF1 | c.2051C>T (p.Ser684Leu) c.992C>T c.1007C>T (p.Ser336Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.45947692G>A | CA510753459 | PCIF1 | c.2052G>A (p.Ser684=) c.993G>A c.1008G>A (p.Ser336=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947692G>C | CA510753461 | PCIF1 | c.2052G>C (p.Ser684=) c.993G>C c.1008G>C (p.Ser336=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947692G= | CA2366447874 | PCIF1 | c.2052G= (p.Ser684=) c.993G= c.1008G= (p.Ser336=) | |
| 20 | g.45947692G>T | CA510753460 | PCIF1 | c.2052G>T (p.Ser684=) c.993G>T c.1008G>T (p.Ser336=) | |
| 20 | g.45947693G>A | CA409231475 | PCIF1 | c.2053G>A (p.Glu685Lys) c.994G>A c.1009G>A (p.Glu337Lys) | gnomAD v4 |
| 20 | g.45947693G>C | CA409231476 | PCIF1 | c.2053G>C (p.Glu685Gln) c.994G>C c.1009G>C (p.Glu337Gln) | |
| 20 | g.45947693G>T | CA409231477 | PCIF1 | c.2053G>T (p.Glu685Ter) c.994G>T c.1009G>T (p.Glu337Ter) | |
| 20 | g.45947694A= | CA2366447875 | PCIF1 | c.2054A= (p.Glu685=) c.995A= c.1010A= (p.Glu337=) | |
| 20 | g.45947694A>C | CA409231478 | PCIF1 | c.2054A>C (p.Glu685Ala) c.995A>C c.1010A>C (p.Glu337Ala) | |
| 20 | g.45947694A>G | CA409231479 | PCIF1 | c.2054A>G (p.Glu685Gly) c.995A>G c.1010A>G (p.Glu337Gly) | |
| 20 | g.45947694A>T | CA9884678 | PCIF1 | c.2054A>T (p.Glu685Val) c.995A>T c.1010A>T (p.Glu337Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947695G>A | CA510753469 | PCIF1 | c.2055G>A (p.Glu685=) c.996G>A c.1011G>A (p.Glu337=) | |
| 20 | g.45947695G>C | CA9884679 | PCIF1 | c.2055G>C (p.Glu685Asp) c.996G>C c.1011G>C (p.Glu337Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947695G= | CA2366447876 | PCIF1 | c.2055G= (p.Glu685=) c.996G= c.1011G= (p.Glu337=) | |
| 20 | g.45947695G>T | CA409231480 | PCIF1 | c.2055G>T (p.Glu685Asp) c.996G>T c.1011G>T (p.Glu337Asp) | |
| 20 | g.45947696G>A | CA409231482 | PCIF1 | c.2056G>A (p.Ala686Thr) c.997G>A c.1012G>A (p.Ala338Thr) | |
| 20 | g.45947696G>C | CA409231483 | PCIF1 | c.2056G>C (p.Ala686Pro) c.997G>C c.1012G>C (p.Ala338Pro) | |
| 20 | g.45947696G>T | CA409231481 | PCIF1 | c.2056G>T (p.Ala686Ser) c.997G>T c.1012G>T (p.Ala338Ser) | gnomAD v4 |
| 20 | g.45947697C>A | CA409231485 | PCIF1 | c.2057C>A (p.Ala686Asp) c.998C>A c.1013C>A (p.Ala338Asp) | |
| 20 | g.45947697C>G | CA409231486 | PCIF1 | c.2057C>G (p.Ala686Gly) c.998C>G c.1013C>G (p.Ala338Gly) | |
| 20 | g.45947697C>T | CA409231487 | PCIF1 | c.2057C>T (p.Ala686Val) c.998C>T c.1013C>T (p.Ala338Val) | |
| 20 | g.45947698C>A | CA510753474 | PCIF1 | c.2058C>A (p.Ala686=) c.999C>A c.1014C>A (p.Ala338=) | |
| 20 | g.45947698C>G | CA510753475 | PCIF1 | c.2058C>G (p.Ala686=) c.999C>G c.1014C>G (p.Ala338=) | |
| 20 | g.45947698C>T | CA510753476 | PCIF1 | c.2058C>T (p.Ala686=) c.999C>T c.1014C>T (p.Ala338=) | gnomAD v4 |
| 20 | g.45947699A>C | CA409231489 | PCIF1 | c.2059A>C (p.Lys687Gln) c.1000A>C c.1015A>C (p.Lys339Gln) | |
| 20 | g.45947699A>G | CA409231493 | PCIF1 | c.2059A>G (p.Lys687Glu) c.1000A>G c.1015A>G (p.Lys339Glu) | |
| 20 | g.45947699A>T | CA409231495 | PCIF1 | c.2059A>T (p.Lys687Ter) c.1000A>T c.1015A>T (p.Lys339Ter) | |
| 20 | g.45947700A= | CA2366447877 | PCIF1 | c.2060A= (p.Lys687=) c.1001A= c.1016A= (p.Lys339=) | |
| 20 | g.45947700A>C | CA409231500 | PCIF1 | c.2060A>C (p.Lys687Thr) c.1001A>C c.1016A>C (p.Lys339Thr) | |
| 20 | g.45947700A>G | CA409231497 | PCIF1 | c.2060A>G (p.Lys687Arg) c.1001A>G c.1016A>G (p.Lys339Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947700A>T | CA409231499 | PCIF1 | c.2060A>T (p.Lys687Met) c.1001A>T c.1016A>T (p.Lys339Met) | |
| 20 | g.45947700_45947714delinsAGGACCGGGACTCGG | CA2366447878 | PCIF1 | c.2060_2074delinsAGGACCGGGACTCGG (p.Lys687=) c.1001_1015delinsAGGACCGGGACTCGG c.1016_1030delinsAGGACCGGGACTCGG (p.Lys339=) | |
| 20 | g.45947701G>A | CA510753478 | PCIF1 | c.2061G>A (p.Lys687=) c.1002G>A c.1017G>A (p.Lys339=) | |
| 20 | g.45947701G>C | CA409231501 | PCIF1 | c.2061G>C (p.Lys687Asn) c.1002G>C c.1017G>C (p.Lys339Asn) | |
| 20 | g.45947701G>T | CA409231503 | PCIF1 | c.2061G>T (p.Lys687Asn) c.1002G>T c.1017G>T (p.Lys339Asn) | gnomAD v4 |
| 20 | g.45947702_45947715del | CA2366447879 | PCIF1 | c.2062_2075del (p.Asp688ProfsTer2) c.1003_1016del c.1018_1031del (p.Asp340ProfsTer2) | dbSNP gnomAD v4 |
| 20 | g.45947702G>A | CA409231505 | PCIF1 | c.2062G>A (p.Asp688Asn) c.1003G>A c.1018G>A (p.Asp340Asn) | dbSNP |
| 20 | g.45947702G>C | CA409231507 | PCIF1 | c.2062G>C (p.Asp688His) c.1003G>C c.1018G>C (p.Asp340His) | |
| 20 | g.45947702G= | CA2366447880 | PCIF1 | c.2062G= (p.Asp688=) c.1003G= c.1018G= (p.Asp340=) | |
| 20 | g.45947702G>T | CA409231509 | PCIF1 | c.2062G>T (p.Asp688Tyr) c.1003G>T c.1018G>T (p.Asp340Tyr) | |
| 20 | g.45947703A>C | CA409231511 | PCIF1 | c.2063A>C (p.Asp688Ala) c.1004A>C c.1019A>C (p.Asp340Ala) | |
| 20 | g.45947703A>G | CA409231515 | PCIF1 | c.2063A>G (p.Asp688Gly) c.1004A>G c.1019A>G (p.Asp340Gly) | |
| 20 | g.45947703A>T | CA409231513 | PCIF1 | c.2063A>T (p.Asp688Val) c.1004A>T c.1019A>T (p.Asp340Val) | |
| 20 | g.45947704C>A | CA409231516 | PCIF1 | c.2064C>A (p.Asp688Glu) c.1005C>A c.1020C>A (p.Asp340Glu) | |
| 20 | g.45947704C= | CA2366447881 | PCIF1 | c.2064C= (p.Asp688=) c.1005C= c.1020C= (p.Asp340=) | |
| 20 | g.45947704C>G | CA409231518 | PCIF1 | c.2064C>G (p.Asp688Glu) c.1005C>G c.1020C>G (p.Asp340Glu) | |
| 20 | g.45947704C>T | CA9884680 | PCIF1 | c.2064C>T (p.Asp688=) c.1005C>T c.1020C>T (p.Asp340=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947705C>A | CA510753488 | PCIF1 | c.2065C>A (p.Arg689=) c.1006C>A c.1021C>A (p.Arg341=) | |
| 20 | g.45947705C= | CA2366447882 | PCIF1 | c.2065C= (p.Arg689=) c.1006C= c.1021C= (p.Arg341=) | |
| 20 | g.45947705C>G | CA409231521 | PCIF1 | c.2065C>G (p.Arg689Gly) c.1006C>G c.1021C>G (p.Arg341Gly) | |
| 20 | g.45947705C>T | CA9884681 | PCIF1 | c.2065C>T (p.Arg689Trp) c.1006C>T c.1021C>T (p.Arg341Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947706G>A | CA9884682 | PCIF1 | c.2066G>A (p.Arg689Gln) c.1007G>A c.1022G>A (p.Arg341Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947706G>C | CA409231524 | PCIF1 | c.2066G>C (p.Arg689Pro) c.1007G>C c.1022G>C (p.Arg341Pro) | |
| 20 | g.45947706G= | CA2366447883 | PCIF1 | c.2066G= (p.Arg689=) c.1007G= c.1022G= (p.Arg341=) | |
| 20 | g.45947706G>T | CA409231526 | PCIF1 | c.2066G>T (p.Arg689Leu) c.1007G>T c.1022G>T (p.Arg341Leu) | gnomAD v4 |
| 20 | g.45947708del | CA2653107509 | PCIF1 | c.2068del (p.Asp690ThrfsTer28) c.1009del c.1024del (p.Asp342ThrfsTer28) | gnomAD v4 |
| 20 | g.45947707G>A | CA510753492 | PCIF1 | c.2067G>A (p.Arg689=) c.1008G>A c.1023G>A (p.Arg341=) | |
| 20 | g.45947707G>C | CA510753493 | PCIF1 | c.2067G>C (p.Arg689=) c.1008G>C c.1023G>C (p.Arg341=) | |
| 20 | g.45947707G>T | CA510753494 | PCIF1 | c.2067G>T (p.Arg689=) c.1008G>T c.1023G>T (p.Arg341=) | |
| 20 | g.45947708G>A | CA409231527 | PCIF1 | c.2068G>A (p.Asp690Asn) c.1009G>A c.1024G>A (p.Asp342Asn) | dbSNP |
| 20 | g.45947708G>C | CA409231528 | PCIF1 | c.2068G>C (p.Asp690His) c.1009G>C c.1024G>C (p.Asp342His) | |
| 20 | g.45947708G= | CA2366447884 | PCIF1 | c.2068G= (p.Asp690=) c.1009G= c.1024G= (p.Asp342=) | |
| 20 | g.45947708G>T | CA409231530 | PCIF1 | c.2068G>T (p.Asp690Tyr) c.1009G>T c.1024G>T (p.Asp342Tyr) | |
| 20 | g.45947709A>C | CA409231535 | PCIF1 | c.2069A>C (p.Asp690Ala) c.1010A>C c.1025A>C (p.Asp342Ala) | |
| 20 | g.45947709A>G | CA409231533 | PCIF1 | c.2069A>G (p.Asp690Gly) c.1010A>G c.1025A>G (p.Asp342Gly) | |
| 20 | g.45947709A>T | CA409231532 | PCIF1 | c.2069A>T (p.Asp690Val) c.1010A>T c.1025A>T (p.Asp342Val) | |
| 20 | g.45947710C>A | CA409231538 | PCIF1 | c.2070C>A (p.Asp690Glu) c.1011C>A c.1026C>A (p.Asp342Glu) | |
| 20 | g.45947710C>G | CA409231540 | PCIF1 | c.2070C>G (p.Asp690Glu) c.1011C>G c.1026C>G (p.Asp342Glu) | |
| 20 | g.45947710C>T | CA510753497 | PCIF1 | c.2070C>T (p.Asp690=) c.1011C>T c.1026C>T (p.Asp342=) | gnomAD v4 |
| 20 | g.45947711T>A | CA409231544 | PCIF1 | c.2071T>A (p.Ser691Thr) c.1012T>A c.1027T>A (p.Ser343Thr) | |
| 20 | g.45947711T>C | CA409231546 | PCIF1 | c.2071T>C (p.Ser691Pro) c.1012T>C c.1027T>C (p.Ser343Pro) | |
| 20 | g.45947711T>G | CA409231548 | PCIF1 | c.2071T>G (p.Ser691Ala) c.1012T>G c.1027T>G (p.Ser343Ala) | |
| 20 | g.45947712C>A | CA409231549 | PCIF1 | c.2072C>A (p.Ser691Ter) c.1013C>A c.1028C>A (p.Ser343Ter) | gnomAD v4 |
| 20 | g.45947712C= | CA2366447885 | PCIF1 | c.2072C= (p.Ser691=) c.1013C= c.1028C= (p.Ser343=) | |
| 20 | g.45947712C>G | CA409231551 | PCIF1 | c.2072C>G (p.Ser691Trp) c.1013C>G c.1028C>G (p.Ser343Trp) | |
| 20 | g.45947712C>T | CA9884683 | PCIF1 | c.2072C>T (p.Ser691Leu) c.1013C>T c.1028C>T (p.Ser343Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.45947713G>A | CA9884684 | PCIF1 | c.2073G>A (p.Ser691=) c.1014G>A c.1029G>A (p.Ser343=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947713G>C | CA510753504 | PCIF1 | c.2073G>C (p.Ser691=) c.1014G>C c.1029G>C (p.Ser343=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947713G= | CA2366447886 | PCIF1 | c.2073G= (p.Ser691=) c.1014G= c.1029G= (p.Ser343=) | |
| 20 | g.45947713G>T | CA510753502 | PCIF1 | c.2073G>T (p.Ser691=) c.1014G>T c.1029G>T (p.Ser343=) | |
| 20 | g.45947714G>A | CA409231554 | PCIF1 | c.2074G>A (p.Gly692Ser) c.1015G>A c.1030G>A (p.Gly344Ser) | |
| 20 | g.45947714G>C | CA409231556 | PCIF1 | c.2074G>C (p.Gly692Arg) c.1015G>C c.1030G>C (p.Gly344Arg) | |
| 20 | g.45947714G>T | CA409231558 | PCIF1 | c.2074G>T (p.Gly692Cys) c.1015G>T c.1030G>T (p.Gly344Cys) | |
| 20 | g.45947715G>A | CA409231560 | PCIF1 | c.2075G>A (p.Gly692Asp) c.1016G>A c.1031G>A (p.Gly344Asp) | |
| 20 | g.45947715G>C | CA409231562 | PCIF1 | c.2075G>C (p.Gly692Ala) c.1016G>C c.1031G>C (p.Gly344Ala) | |
| 20 | g.45947715G>T | CA409231564 | PCIF1 | c.2075G>T (p.Gly692Val) c.1016G>T c.1031G>T (p.Gly344Val) | gnomAD v4 |
| 20 | g.45947719_45947736del | CA2653107533 | PCIF1 | c.2079_2096del (p.Glu694_Arg699del) c.1020_1037del c.1035_1052del (p.Glu346_Arg351del) | gnomAD v4 |
| 20 | g.45947716C>A | CA510753508 | PCIF1 | c.2076C>A (p.Gly692=) c.1017C>A c.1032C>A (p.Gly344=) | |
| 20 | g.45947716C>G | CA510753506 | PCIF1 | c.2076C>G (p.Gly692=) c.1017C>G c.1032C>G (p.Gly344=) | |
| 20 | g.45947716C>T | CA510753507 | PCIF1 | c.2076C>T (p.Gly692=) c.1017C>T c.1032C>T (p.Gly344=) | gnomAD v4 |
| 20 | g.45947717C>A | CA409231569 | PCIF1 | c.2077C>A (p.Arg693Ser) c.1018C>A c.1033C>A (p.Arg345Ser) | |
| 20 | g.45947717C= | CA2366447887 | PCIF1 | c.2077C= (p.Arg693=) c.1018C= c.1033C= (p.Arg345=) | |
| 20 | g.45947717C>G | CA315641222 | PCIF1 | c.2077C>G (p.Arg693Gly) c.1018C>G c.1033C>G (p.Arg345Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947717C>T | CA9884685 | PCIF1 | c.2077C>T (p.Arg693Cys) c.1018C>T c.1033C>T (p.Arg345Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947718G>A | CA9884686 | PCIF1 | c.2078G>A (p.Arg693His) c.1019G>A c.1034G>A (p.Arg345His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947718G>C | CA409231571 | PCIF1 | c.2078G>C (p.Arg693Pro) c.1019G>C c.1034G>C (p.Arg345Pro) | dbSNP |
| 20 | g.45947718G= | CA2366447888 | PCIF1 | c.2078G= (p.Arg693=) c.1019G= c.1034G= (p.Arg345=) | |
| 20 | g.45947718G>T | CA409231573 | PCIF1 | c.2078G>T (p.Arg693Leu) c.1019G>T c.1034G>T (p.Arg345Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947719T>A | CA510753513 | PCIF1 | c.2079T>A (p.Arg693=) c.1020T>A c.1035T>A (p.Arg345=) | |
| 20 | g.45947719T>C | CA510753515 | PCIF1 | c.2079T>C (p.Arg693=) c.1020T>C c.1035T>C (p.Arg345=) | dbSNP |
| 20 | g.45947719T>G | CA510753514 | PCIF1 | c.2079T>G (p.Arg693=) c.1020T>G c.1035T>G (p.Arg345=) | |
| 20 | g.45947719T= | CA2366447889 | PCIF1 | c.2079T= (p.Arg693=) c.1020T= c.1035T= (p.Arg345=) | |
| 20 | g.45947720G>A | CA409231574 | PCIF1 | c.2080G>A (p.Glu694Lys) c.1021G>A c.1036G>A (p.Glu346Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947720G>C | CA409231575 | PCIF1 | c.2080G>C (p.Glu694Gln) c.1021G>C c.1036G>C (p.Glu346Gln) | dbSNP gnomAD v4 |
| 20 | g.45947720G= | CA2366447890 | PCIF1 | c.2080G= (p.Glu694=) c.1021G= c.1036G= (p.Glu346=) | |
| 20 | g.45947720G>T | CA409231576 | PCIF1 | c.2080G>T (p.Glu694Ter) c.1021G>T c.1036G>T (p.Glu346Ter) | |
| 20 | g.45947721A>C | CA409231577 | PCIF1 | c.2081A>C (p.Glu694Ala) c.1022A>C c.1037A>C (p.Glu346Ala) | |
| 20 | g.45947721A>G | CA409231578 | PCIF1 | c.2081A>G (p.Glu694Gly) c.1022A>G c.1037A>G (p.Glu346Gly) | |
| 20 | g.45947721A>T | CA409231579 | PCIF1 | c.2081A>T (p.Glu694Val) c.1022A>T c.1037A>T (p.Glu346Val) | |
| 20 | g.45947722G>A | CA510753521 | PCIF1 | c.2082G>A (p.Glu694=) c.1023G>A c.1038G>A (p.Glu346=) | |
| 20 | g.45947722G>C | CA409231580 | PCIF1 | c.2082G>C (p.Glu694Asp) c.1023G>C c.1038G>C (p.Glu346Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947722G= | CA2366447891 | PCIF1 | c.2082G= (p.Glu694=) c.1023G= c.1038G= (p.Glu346=) | |
| 20 | g.45947722G>T | CA409231581 | PCIF1 | c.2082G>T (p.Glu694Asp) c.1023G>T c.1038G>T (p.Glu346Asp) | |
| 20 | g.45947723C>A | CA409231582 | PCIF1 | c.2083C>A (p.Gln695Lys) c.1024C>A c.1039C>A (p.Gln347Lys) | |
| 20 | g.45947723C>G | CA409231584 | PCIF1 | c.2083C>G (p.Gln695Glu) c.1024C>G c.1039C>G (p.Gln347Glu) | |
| 20 | g.45947723C>T | CA409231586 | PCIF1 | c.2083C>T (p.Gln695Ter) c.1024C>T c.1039C>T (p.Gln347Ter) | |
| 20 | g.45947724A= | CA2366447892 | PCIF1 | c.2084A= (p.Gln695=) c.1025A= c.1040A= (p.Gln347=) | |
| 20 | g.45947724A>C | CA409231591 | PCIF1 | c.2084A>C (p.Gln695Pro) c.1025A>C c.1040A>C (p.Gln347Pro) | dbSNP |
| 20 | g.45947724A>G | CA409231592 | PCIF1 | c.2084A>G (p.Gln695Arg) c.1025A>G c.1040A>G (p.Gln347Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947724A>T | CA409231590 | PCIF1 | c.2084A>T (p.Gln695Leu) c.1025A>T c.1040A>T (p.Gln347Leu) | |
| 20 | g.45947725G>A | CA510753526 | PCIF1 | c.2085G>A (p.Gln695=) c.1026G>A c.1041G>A (p.Gln347=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947725G>C | CA409231593 | PCIF1 | c.2085G>C (p.Gln695His) c.1026G>C c.1041G>C (p.Gln347His) | |
| 20 | g.45947725G= | CA2366447893 | PCIF1 | c.2085G= (p.Gln695=) c.1026G= c.1041G= (p.Gln347=) | |
| 20 | g.45947725G>T | CA409231594 | PCIF1 | c.2085G>T (p.Gln695His) c.1026G>T c.1041G>T (p.Gln347His) |