UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.45947669_45947671delinsGGT | CA2366447857 | PCIF1 | c.2029_2031delinsGGT (p.Gly677=) c.970_972delinsGGT c.985_987delinsGGT (p.Gly329=) | |
| 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) | |
| 20 | g.45947726G>A | CA409231595 | PCIF1 | c.2086G>A (p.Gly696Ser) c.1027G>A c.1042G>A (p.Gly348Ser) | gnomAD v4 |
| 20 | g.45947726G>C | CA409231596 | PCIF1 | c.2086G>C (p.Gly696Arg) c.1027G>C c.1042G>C (p.Gly348Arg) | |
| 20 | g.45947726G>T | CA409231597 | PCIF1 | c.2086G>T (p.Gly696Cys) c.1027G>T c.1042G>T (p.Gly348Cys) | gnomAD v4 |
| 20 | g.45947727G>A | CA409231598 | PCIF1 | c.2087G>A (p.Gly696Asp) c.1028G>A c.1043G>A (p.Gly348Asp) | |
| 20 | g.45947727G>C | CA409231599 | PCIF1 | c.2087G>C (p.Gly696Ala) c.1028G>C c.1043G>C (p.Gly348Ala) | |
| 20 | g.45947727G>T | CA409231600 | PCIF1 | c.2087G>T (p.Gly696Val) c.1028G>T c.1043G>T (p.Gly348Val) | |
| 20 | g.45947728T>A | CA510753532 | PCIF1 | c.2088T>A (p.Gly696=) c.1029T>A c.1044T>A (p.Gly348=) | |
| 20 | g.45947728T>C | CA510753533 | PCIF1 | c.2088T>C (p.Gly696=) c.1029T>C c.1044T>C (p.Gly348=) | |
| 20 | g.45947728T>G | CA510753535 | PCIF1 | c.2088T>G (p.Gly696=) c.1029T>G c.1044T>G (p.Gly348=) | |
| 20 | g.45947729C>A | CA409231601 | PCIF1 | c.2089C>A (p.Pro697Thr) c.1030C>A c.1045C>A (p.Pro349Thr) | |
| 20 | g.45947729C>G | CA409231602 | PCIF1 | c.2089C>G (p.Pro697Ala) c.1030C>G c.1045C>G (p.Pro349Ala) | |
| 20 | g.45947729C>T | CA409231603 | PCIF1 | c.2089C>T (p.Pro697Ser) c.1030C>T c.1045C>T (p.Pro349Ser) | |
| 20 | g.45947730C>A | CA409231621 | PCIF1 | c.2090C>A (p.Pro697His) c.1031C>A c.1046C>A (p.Pro349His) | |
| 20 | g.45947730C= | CA2366447894 | PCIF1 | c.2090C= (p.Pro697=) c.1031C= c.1046C= (p.Pro349=) | |
| 20 | g.45947730C>G | CA409231611 | PCIF1 | c.2090C>G (p.Pro697Arg) c.1031C>G c.1046C>G (p.Pro349Arg) | |
| 20 | g.45947730C>T | CA409231604 | PCIF1 | c.2090C>T (p.Pro697Leu) c.1031C>T c.1046C>T (p.Pro349Leu) | dbSNP gnomAD v2 |
| 20 | g.45947731T>A | CA510753537 | PCIF1 | c.2091T>A (p.Pro697=) c.1032T>A c.1047T>A (p.Pro349=) | |
| 20 | g.45947731T>C | CA510753538 | PCIF1 | c.2091T>C (p.Pro697=) c.1032T>C c.1047T>C (p.Pro349=) | |
| 20 | g.45947731T>G | CA510753539 | PCIF1 | c.2091T>G (p.Pro697=) c.1032T>G c.1047T>G (p.Pro349=) | |
| 20 | g.45947732A>C | CA409231623 | PCIF1 | c.2092A>C (p.Ser698Arg) c.1033A>C c.1048A>C (p.Ser350Arg) | |
| 20 | g.45947732A>G | CA409231626 | PCIF1 | c.2092A>G (p.Ser698Gly) c.1033A>G c.1048A>G (p.Ser350Gly) | |
| 20 | g.45947732A>T | CA409231630 | PCIF1 | c.2092A>T (p.Ser698Cys) c.1033A>T c.1048A>T (p.Ser350Cys) | |
| 20 | g.45947733G>A | CA409231632 | PCIF1 | c.2093G>A (p.Ser698Asn) c.1034G>A c.1049G>A (p.Ser350Asn) | gnomAD v4 |
| 20 | g.45947733G>C | CA409231637 | PCIF1 | c.2093G>C (p.Ser698Thr) c.1034G>C c.1049G>C (p.Ser350Thr) | |
| 20 | g.45947733G>T | CA409231639 | PCIF1 | c.2093G>T (p.Ser698Ile) c.1034G>T c.1049G>T (p.Ser350Ile) | |
| 20 | g.45947734C>A | CA409231643 | PCIF1 | c.2094C>A (p.Ser698Arg) c.1035C>A c.1050C>A (p.Ser350Arg) | gnomAD v4 |
| 20 | g.45947734C= | CA2366447895 | PCIF1 | c.2094C= (p.Ser698=) c.1035C= c.1050C= (p.Ser350=) | |
| 20 | g.45947734C>G | CA409231645 | PCIF1 | c.2094C>G (p.Ser698Arg) c.1035C>G c.1050C>G (p.Ser350Arg) | |
| 20 | g.45947734C>T | CA9884687 | PCIF1 | c.2094C>T (p.Ser698=) c.1035C>T c.1050C>T (p.Ser350=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.45947735C>A | CA409231651 | PCIF1 | c.2095C>A (p.Arg699Ser) c.1036C>A c.1051C>A (p.Arg351Ser) | |
| 20 | g.45947735C= | CA2366447896 | PCIF1 | c.2095C= (p.Arg699=) c.1036C= c.1051C= (p.Arg351=) | |
| 20 | g.45947735C>G | CA409231653 | PCIF1 | c.2095C>G (p.Arg699Gly) c.1036C>G c.1051C>G (p.Arg351Gly) | |
| 20 | g.45947735C>T | CA9884688 | PCIF1 | c.2095C>T (p.Arg699Cys) c.1036C>T c.1051C>T (p.Arg351Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947736del | CA2653107571 | PCIF1 | c.2096del (p.Arg699ProfsTer19) c.1037del c.1052del (p.Arg351ProfsTer19) | gnomAD v4 |
| 20 | g.45947736G>A | CA9884690 | PCIF1 | c.2096G>A (p.Arg699His) c.1037G>A c.1052G>A (p.Arg351His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947736G>C | CA409231657 | PCIF1 | c.2096G>C (p.Arg699Pro) c.1037G>C c.1052G>C (p.Arg351Pro) | |
| 20 | g.45947736G= | CA2366447897 | PCIF1 | c.2096G= (p.Arg699=) c.1037G= c.1052G= (p.Arg351=) | |
| 20 | g.45947736G>T | CA9884689 | PCIF1 | c.2096G>T (p.Arg699Leu) c.1037G>T c.1052G>T (p.Arg351Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947737C>A | CA510753543 | PCIF1 | c.2097C>A (p.Arg699=) c.1038C>A c.1053C>A (p.Arg351=) | |
| 20 | g.45947737C= | CA2366447898 | PCIF1 | c.2097C= (p.Arg699=) c.1038C= c.1053C= (p.Arg351=) | |
| 20 | g.45947737C>G | CA510753545 | PCIF1 | c.2097C>G (p.Arg699=) c.1038C>G c.1053C>G (p.Arg351=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947737C>T | CA9884691 | PCIF1 | c.2097C>T (p.Arg699=) c.1038C>T c.1053C>T (p.Arg351=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947738del | CA2653107581 | PCIF1 | c.2098del (p.Glu700SerfsTer18) c.1039del c.1054del (p.Glu352SerfsTer18) | gnomAD v4 |
| 20 | g.45947738G>A | CA9884692 | PCIF1 | c.2098G>A (p.Glu700Lys) c.1039G>A c.1054G>A (p.Glu352Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947738G>C | CA409231672 | PCIF1 | c.2098G>C (p.Glu700Gln) c.1039G>C c.1054G>C (p.Glu352Gln) | |
| 20 | g.45947738G= | CA2366447899 | PCIF1 | c.2098G= (p.Glu700=) c.1039G= c.1054G= (p.Glu352=) | |
| 20 | g.45947738G>T | CA409231673 | PCIF1 | c.2098G>T (p.Glu700Ter) c.1039G>T c.1054G>T (p.Glu352Ter) | gnomAD v4 |
| 20 | g.45947739A= | CA2366447900 | PCIF1 | c.2099A= (p.Glu700=) c.1040A= c.1055A= (p.Glu352=) | |
| 20 | g.45947739A>C | CA409231677 | PCIF1 | c.2099A>C (p.Glu700Ala) c.1040A>C c.1055A>C (p.Glu352Ala) | |
| 20 | g.45947739A>G | CA9884693 | PCIF1 | c.2099A>G (p.Glu700Gly) c.1040A>G c.1055A>G (p.Glu352Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947739A>T | CA409231680 | PCIF1 | c.2099A>T (p.Glu700Val) c.1040A>T c.1055A>T (p.Glu352Val) | |
| 20 | g.45947740G>A | CA510753546 | PCIF1 | c.2100G>A (p.Glu700=) c.1041G>A c.1056G>A (p.Glu352=) | gnomAD v4 |
| 20 | g.45947740G>C | CA409231681 | PCIF1 | c.2100G>C (p.Glu700Asp) c.1041G>C c.1056G>C (p.Glu352Asp) | |
| 20 | g.45947740G>T | CA409231682 | PCIF1 | c.2100G>T (p.Glu700Asp) c.1041G>T c.1056G>T (p.Glu352Asp) | gnomAD v4 |
| 20 | g.45947741C>A | CA409231683 | PCIF1 | c.2101C>A (p.Pro701Thr) c.1042C>A c.1057C>A (p.Pro353Thr) | gnomAD v4 |
| 20 | g.45947741C>G | CA409231685 | PCIF1 | c.2101C>G (p.Pro701Ala) c.1042C>G c.1057C>G (p.Pro353Ala) | |
| 20 | g.45947741C>T | CA409231686 | PCIF1 | c.2101C>T (p.Pro701Ser) c.1042C>T c.1057C>T (p.Pro353Ser) | gnomAD v4 |
| 20 | g.45947742C>A | CA409231688 | PCIF1 | c.2102C>A (p.Pro701His) c.1043C>A c.1058C>A (p.Pro353His) | |
| 20 | g.45947742C= | CA2366447901 | PCIF1 | c.2102C= (p.Pro701=) c.1043C= c.1058C= (p.Pro353=) | |
| 20 | g.45947742C>G | CA409231691 | PCIF1 | c.2102C>G (p.Pro701Arg) c.1043C>G c.1058C>G (p.Pro353Arg) | gnomAD v4 |
| 20 | g.45947742C>T | CA409231693 | PCIF1 | c.2102C>T (p.Pro701Leu) c.1043C>T c.1058C>T (p.Pro353Leu) | dbSNP gnomAD v2 |
| 20 | g.45947743T>A | CA510753550 | PCIF1 | c.2103T>A (p.Pro701=) c.1044T>A c.1059T>A (p.Pro353=) | |
| 20 | g.45947743T>C | CA510753551 | PCIF1 | c.2103T>C (p.Pro701=) c.1044T>C c.1059T>C (p.Pro353=) | gnomAD v4 |
| 20 | g.45947743T>G | CA510753553 | PCIF1 | c.2103T>G (p.Pro701=) c.1044T>G c.1059T>G (p.Pro353=) | |
| 20 | g.45947744C>A | CA409231698 | PCIF1 | c.2104C>A (p.His702Asn) c.1045C>A c.1060C>A (p.His354Asn) | |
| 20 | g.45947744C>G | CA409231694 | PCIF1 | c.2104C>G (p.His702Asp) c.1045C>G c.1060C>G (p.His354Asp) | |
| 20 | g.45947744C>T | CA409231696 | PCIF1 | c.2104C>T (p.His702Tyr) c.1045C>T c.1060C>T (p.His354Tyr) | |
| 20 | g.45947745A= | CA2366447902 | PCIF1 | c.2105A= (p.His702=) c.1046A= c.1061A= (p.His354=) | |
| 20 | g.45947745A>C | CA409231701 | PCIF1 | c.2105A>C (p.His702Pro) c.1046A>C c.1061A>C (p.His354Pro) | |
| 20 | g.45947745A>G | CA409231703 | PCIF1 | c.2105A>G (p.His702Arg) c.1046A>G c.1061A>G (p.His354Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947745A>T | CA409231705 | PCIF1 | c.2105A>T (p.His702Leu) c.1046A>T c.1061A>T (p.His354Leu) | |
| 20 | g.45947746C>A | CA409231707 | PCIF1 | c.2106C>A (p.His702Gln) c.1047C>A c.1062C>A (p.His354Gln) | |
| 20 | g.45947746C= | CA2366447903 | PCIF1 | c.2106C= (p.His702=) c.1047C= c.1062C= (p.His354=) | |
| 20 | g.45947746C>G | CA409231710 | PCIF1 | c.2106C>G (p.His702Gln) c.1047C>G c.1062C>G (p.His354Gln) | |
| 20 | g.45947746C>T | CA9884694 | PCIF1 | c.2106C>T (p.His702=) c.1047C>T c.1062C>T (p.His354=) | dbSNP ExAC gnomAD v4 |
| 20 | g.45947749del | CA2653107597 | PCIF1 | c.2109del (p.Thr704LeufsTer14) c.1050del c.1065del (p.Thr356LeufsTer14) | gnomAD v4 |
| 20 | g.45947747C>A | CA409231712 | PCIF1 | c.2107C>A (p.Pro703Thr) c.1048C>A c.1063C>A (p.Pro355Thr) | gnomAD v4 |
| 20 | g.45947747C= | CA2366447904 | PCIF1 | c.2107C= (p.Pro703=) c.1048C= c.1063C= (p.Pro355=) | |
| 20 | g.45947747C>G | CA409231713 | PCIF1 | c.2107C>G (p.Pro703Ala) c.1048C>G c.1063C>G (p.Pro355Ala) | gnomAD v4 |
| 20 | g.45947747C>T | CA409231714 | PCIF1 | c.2107C>T (p.Pro703Ser) c.1048C>T c.1063C>T (p.Pro355Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947748C>A | CA409231715 | PCIF1 | c.2108C>A (p.Pro703His) c.1049C>A c.1064C>A (p.Pro355His) | gnomAD v4 |
| 20 | g.45947748C= | CA2366447905 | PCIF1 | c.2108C= (p.Pro703=) c.1049C= c.1064C= (p.Pro355=) | |
| 20 | g.45947748C>G | CA409231717 | PCIF1 | c.2108C>G (p.Pro703Arg) c.1049C>G c.1064C>G (p.Pro355Arg) | |
| 20 | g.45947748C>T | CA315641285 | PCIF1 | c.2108C>T (p.Pro703Leu) c.1049C>T c.1064C>T (p.Pro355Leu) | dbSNP |
| 20 | g.45947749C>A | CA510753559 | PCIF1 | c.2109C>A (p.Pro703=) c.1050C>A c.1065C>A (p.Pro355=) | gnomAD v4 |
| 20 | g.45947749C= | CA2366447906 | PCIF1 | c.2109C= (p.Pro703=) c.1050C= c.1065C= (p.Pro355=) | |
| 20 | g.45947749C>G | CA510753561 | PCIF1 | c.2109C>G (p.Pro703=) c.1050C>G c.1065C>G (p.Pro355=) | |
| 20 | g.45947749C>T | CA9884695 | PCIF1 | c.2109C>T (p.Pro703=) c.1050C>T c.1065C>T (p.Pro355=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947750A>C | CA409231726 | PCIF1 | c.2110A>C (p.Thr704Pro) c.1051A>C c.1066A>C (p.Thr356Pro) | |
| 20 | g.45947750A>G | CA409231723 | PCIF1 | c.2110A>G (p.Thr704Ala) c.1051A>G c.1066A>G (p.Thr356Ala) | |
| 20 | g.45947750A>T | CA409231724 | PCIF1 | c.2110A>T (p.Thr704Ser) c.1051A>T c.1066A>T (p.Thr356Ser) | |
| 20 | g.45947751C>A | CA409231732 | PCIF1 | c.2111C>A (p.Thr704Asn) c.1052C>A c.1067C>A (p.Thr356Asn) | |
| 20 | g.45947751C= | CA2366447907 | PCIF1 | c.2111C= (p.Thr704=) c.1052C= c.1067C= (p.Thr356=) | |
| 20 | g.45947751C>G | CA409231735 | PCIF1 | c.2111C>G (p.Thr704Ser) c.1052C>G c.1067C>G (p.Thr356Ser) | |
| 20 | g.45947751C>T | CA409231741 | PCIF1 | c.2111C>T (p.Thr704Ile) c.1052C>T c.1067C>T (p.Thr356Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947752T>A | CA510753562 | PCIF1 | c.2112T>A (p.Thr704=) c.1053T>A c.1068T>A (p.Thr356=) | |
| 20 | g.45947752T>C | CA510753563 | PCIF1 | c.2112T>C (p.Thr704=) c.1053T>C c.1068T>C (p.Thr356=) | |
| 20 | g.45947752T>G | CA510753564 | PCIF1 | c.2112T>G (p.Thr704=) c.1053T>G c.1068T>G (p.Thr356=) | |
| 20 | g.45947753T>A | CA409231742 | PCIF1 | c.2113T>A (p.Ter705Lys) c.1054T>A c.1069T>A (p.Ter357Lys) | |
| 20 | g.45947753T>C | CA409231744 | PCIF1 | c.2113T>C (p.Ter705Gln) c.1054T>C c.1069T>C (p.Ter357Gln) | |
| 20 | g.45947753T>G | CA409231746 | PCIF1 | c.2113T>G (p.Ter705Glu) c.1054T>G c.1069T>G (p.Ter357Glu) | |
| 20 | g.45947754A>C | CA409231749 | PCIF1 | c.2114A>C (p.Ter705Ser) c.1055A>C c.1070A>C (p.Ter357Ser) | |
| 20 | g.45947754A>G | CA510753566 | PCIF1 | c.2114A>G (p.Ter705=) c.1055A>G c.1070A>G (p.Ter357=) | gnomAD v4 |
| 20 | g.45947754A>T | CA409231754 | PCIF1 | c.2114A>T (p.Ter705Leu) c.1055A>T c.1070A>T (p.Ter357Leu) | |
| 20 | g.45947755A>C | CA409231757 | PCIF1 | c.2115A>C (p.Ter705Tyr) c.1056A>C c.1071A>C (p.Ter357Tyr) | |
| 20 | g.45947755A>G | CA510753567 | PCIF1 | c.2115A>G (p.Ter705=) c.1056A>G c.1071A>G (p.Ter357=) | |
| 20 | g.45947755A>T | CA409231758 | PCIF1 | c.2115A>T (p.Ter705Tyr) c.1056A>T c.1071A>T (p.Ter357Tyr) | |
| 20 | g.45947756C= | CA2366447908 | PCIF1 | c.*1C= (n.*1C=) c.1057C= | |
| 20 | g.45947756C>G | CA636176166 | PCIF1 | c.*1C>G (n.*1C>G) c.1057C>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947756C>T | CA636176167 | PCIF1 | c.*1C>T (n.*1C>T) c.1057C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947757A= | CA2366447909 | PCIF1 | c.*2A= (n.*2A=) c.1058A= | |
| 20 | g.45947757A>G | CA636176168 | PCIF1 | c.*2A>G (n.*2A>G) c.1058A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947758T>C | CA1017930134 | PCIF1 | c.*3T>C (n.*3T>C) c.1059T>C | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947758T= | CA2366447910 | PCIF1 | c.*3T= (n.*3T=) c.1059T= | |
| 20 | g.45947759A= | CA2366447911 | PCIF1 | c.*4A= (n.*4A=) c.1060A= | |
| 20 | g.45947759A>G | CA636176169 | PCIF1 | c.*4A>G (n.*4A>G) c.1060A>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947760T>C | CA9884696 | PCIF1 | c.*5T>C (n.*5T>C) c.1061T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947760T= | CA2366447912 | PCIF1 | c.*5T= (n.*5T=) c.1061T= | |
| 20 | g.45947761C>A | CA2577412975 | PCIF1 | c.*6C>A (n.*6C>A) c.1062C>A | gnomAD v4 |
| 20 | g.45947761C= | CA2366447913 | PCIF1 | c.*6C= (n.*6C=) c.1062C= | |
| 20 | g.45947761C>T | CA9884697 | PCIF1 | c.*6C>T (n.*6C>T) c.1062C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947762C>A | CA2653107624 | PCIF1 | c.*7C>A (n.*7C>A) c.1063C>A | gnomAD v4 |
| 20 | g.45947762C= | CA2366447914 | PCIF1 | c.*7C= (n.*7C=) c.1063C= | |
| 20 | g.45947762C>G | CA2736847882 | PCIF1 | c.*7C>G (n.*7C>G) c.1063C>G | dbSNP |
| 20 | g.45947762C>T | CA744845196 | PCIF1 | c.*7C>T (n.*7C>T) c.1063C>T | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947763T>A | CA636176170 | PCIF1 | c.*8T>A (n.*8T>A) c.1064T>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947763T>C | CA2653107627 | PCIF1 | c.*8T>C (n.*8T>C) c.1064T>C | gnomAD v4 |
| 20 | g.45947763T= | CA2366447915 | PCIF1 | c.*8T= (n.*8T=) c.1064T= | |
| 20 | g.45947764G>T | CA2653107628 | PCIF1 | c.*9G>T (n.*9G>T) c.1065G>T | gnomAD v4 |
| 20 | g.45947765C>A | CA2653107629 | PCIF1 | c.*10C>A (n.*10C>A) c.1066C>A | gnomAD v4 |
| 20 | g.45947765C= | CA2366447916 | PCIF1 | c.*10C= (n.*10C=) c.1066C= | |
| 20 | g.45947765C>T | CA9884698 | PCIF1 | c.*10C>T (n.*10C>T) c.1066C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947766G>A | CA9884699 | PCIF1 | c.*11G>A (n.*11G>A) c.1067G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947766G>C | CA1017930140 | PCIF1 | c.*11G>C (n.*11G>C) c.1067G>C | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947766G= | CA2366447917 | PCIF1 | c.*11G= (n.*11G=) c.1067G= | |
| 20 | g.45947766G>T | CA2653107633 | PCIF1 | c.*11G>T (n.*11G>T) c.1067G>T | gnomAD v4 |
| 20 | g.45947769del | CA2653107631 | PCIF1 | c.*14del (n.*14del) c.1070del | gnomAD v4 |
| 20 | g.45947767G>A | CA636176171 | PCIF1 | c.*12G>A (n.*12G>A) c.1068G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947767G= | CA2366447918 | PCIF1 | c.*12G= (n.*12G=) c.1068G= | |
| 20 | g.45947767G>T | CA2577412980 | PCIF1 | c.*12G>T (n.*12G>T) c.1068G>T | gnomAD v4 |
| 20 | g.45947767_45947770delinsGGGA | CA2366447919 | PCIF1 | c.*12_*15delinsGGGA (n.*12_*15delinsGGGA) c.1068_1071delinsGGGA | |
| 20 | g.45947768G>A | CA2366447921 | PCIF1 | c.*13G>A (n.*13G>A) c.1069G>A | dbSNP |
| 20 | g.45947768G= | CA2366447920 | PCIF1 | c.*13G= (n.*13G=) c.1069G= | |
| 20 | g.45947768G>T | CA2653107637 | PCIF1 | c.*13G>T (n.*13G>T) c.1069G>T | gnomAD v4 |
| 20 | g.45947775_45947777dup | CA2653107636 | PCIF1 | c.*20_*22dup (n.*20_*22dup) c.1076_1078dup | gnomAD v4 |
| 20 | g.45947775_45947777del | CA9884700 | PCIF1 | c.*20_*22del (n.*20_*22del) c.1076_1078del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947769G>A | CA636176172 | PCIF1 | c.*14G>A (n.*14G>A) c.1070G>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947769G= | CA2366447922 | PCIF1 | c.*14G= (n.*14G=) c.1070G= | |
| 20 | g.45947769G>T | CA2653107639 | PCIF1 | c.*14G>T (n.*14G>T) c.1070G>T | gnomAD v4 |
| 20 | g.45947770A= | CA2366447923 | PCIF1 | c.*15A= (n.*15A=) c.1071A= | |
| 20 | g.45947770A>G | CA636176173 | PCIF1 | c.*15A>G (n.*15A>G) c.1071A>G | dbSNP gnomAD v2 |
| 20 | g.45947771G>A | CA315641310 | PCIF1 | c.*16G>A (n.*16G>A) c.1072G>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947771G>C | CA2653107641 | PCIF1 | c.*16G>C (n.*16G>C) c.1072G>C | gnomAD v4 |
| 20 | g.45947771G= | CA2366447924 | PCIF1 | c.*16G= (n.*16G=) c.1072G= | |
| 20 | g.45947771G>T | CA2653107642 | PCIF1 | c.*16G>T (n.*16G>T) c.1072G>T | gnomAD v4 |