| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |