| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.45947689_45947691del | CA920221985 | PCIF1 | c.2049_2051del (p.Ser684del) c.990_992del c.1005_1007del (p.Ser336del) | dbSNP gnomAD v4 |
| 20 | g.45947698_45947699insGGACTTAACAGGGCCTCCTCGGAGGCC | CA2366447870 | PCIF1 | c.2058_2059insGGACTTAACAGGGCCTCCTCGGAGGCC (p.Ala686_Lys687insGlyLeuAsnArgAlaSerSerGluAla) c.999_1000insGGACTTAACAGGGCCTCCTCGGAGGCC c.1014_1015insGGACTTAACAGGGCCTCCTCGGAGGCC (p.Ala338_Lys339insGlyLeuAsnArgAlaSerSerGluAla) | dbSNP |
| 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) |