Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.45947884C>A | CA2653107712 | PCIF1 | c.*129C>A (n.*129C>A) c.1185C>A | gnomAD v4 |
20 | g.45947884C= | CA2366447995 | PCIF1 | c.*129C= (n.*129C=) c.1185C= | |
20 | g.45947884C>T | CA2366447996 | PCIF1 | c.*129C>T (n.*129C>T) c.1185C>T | dbSNP gnomAD v4 |
20 | g.45947885C>A | CA2653107713 | PCIF1 | c.*130C>A (n.*130C>A) c.1186C>A | gnomAD v4 |
20 | g.45947885C= | CA2366447997 | PCIF1 | c.*130C= (n.*130C=) c.1186C= | |
20 | g.45947885C>T | CA315641497 | PCIF1 | c.*130C>T (n.*130C>T) c.1186C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947886C>A | CA2653107714 | PCIF1 | c.*131C>A (n.*131C>A) c.1187C>A | gnomAD v4 |
20 | g.45947886C>G | CA2653107715 | PCIF1 | c.*131C>G (n.*131C>G) c.1187C>G | gnomAD v4 |
20 | g.45947887T>A | CA2653107716 | PCIF1 | c.*132T>A (n.*132T>A) c.1188T>A | gnomAD v4 |
20 | g.45947888G>A | CA2653107717 | PCIF1 | c.*133G>A (n.*133G>A) c.1189G>A | gnomAD v4 |
20 | g.45947888G>C | CA2577413004 | PCIF1 | c.*133G>C (n.*133G>C) c.1189G>C | gnomAD v4 |
20 | g.45947888G>T | CA2653107718 | PCIF1 | c.*133G>T (n.*133G>T) c.1189G>T | gnomAD v4 |
20 | g.45947889C= | CA2366447998 | PCIF1 | c.*134C= (n.*134C=) c.1190C= | |
20 | g.45947889C>T | CA315641501 | PCIF1 | c.*134C>T (n.*134C>T) c.1190C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947890C= | CA2366447999 | PCIF1 | c.*135C= (n.*135C=) c.1191C= | |
20 | g.45947890C>T | CA2366448000 | PCIF1 | c.*135C>T (n.*135C>T) c.1191C>T | dbSNP gnomAD v4 |
20 | g.45947891_45947894dup | CA2653107719 | PCIF1 | c.*136_*139dup (n.*136_*139dup) c.1192_1195dup | gnomAD v4 |
20 | g.45947891T>C | CA744845280 | PCIF1 | c.*136T>C (n.*136T>C) c.1192T>C | dbSNP gnomAD v4 |
20 | g.45947891T= | CA2366448001 | PCIF1 | c.*136T= (n.*136T=) c.1192T= | |
20 | g.45947892G>A | CA2653107720 | PCIF1 | c.*137G>A (n.*137G>A) c.1193G>A | gnomAD v4 |
20 | g.45947892G>T | CA2653107721 | PCIF1 | c.*137G>T (n.*137G>T) c.1193G>T | gnomAD v4 |
20 | g.45947893T>A | CA2653107722 | PCIF1 | c.*138T>A (n.*138T>A) c.1194T>A | gnomAD v4 |
20 | g.45947893T>C | CA2653107723 | PCIF1 | c.*138T>C (n.*138T>C) c.1194T>C | gnomAD v4 |
20 | g.45947894C>A | CA2552009646 | PCIF1 | c.*139C>A (n.*139C>A) c.1195C>A | gnomAD v4 |
20 | g.45947895C>A | CA2653107724 | PCIF1 | c.*140C>A (n.*140C>A) c.1196C>A | gnomAD v4 |
20 | g.45947896C>A | CA2653107725 | PCIF1 | c.*141C>A (n.*141C>A) c.1197C>A | gnomAD v4 |
20 | g.45947897C>A | CA2653107726 | PCIF1 | c.*142C>A (n.*142C>A) c.1198C>A | gnomAD v4 |
20 | g.45947897C>T | CA2653107727 | PCIF1 | c.*142C>T (n.*142C>T) c.1198C>T | gnomAD v4 |
20 | g.45947898A= | CA2366448002 | PCIF1 | c.*143A= (n.*143A=) c.1199A= | |
20 | g.45947898A>G | CA2366448003 | PCIF1 | c.*143A>G (n.*143A>G) c.1199A>G | dbSNP |
20 | g.45947899A>G | CA2653107728 | PCIF1 | c.*144A>G (n.*144A>G) c.1200A>G | gnomAD v4 |
20 | g.45947899A>T | CA2653107729 | PCIF1 | c.*144A>T (n.*144A>T) c.1200A>T | gnomAD v4 |
20 | g.45947900G>A | CA2653107730 | PCIF1 | c.*145G>A (n.*145G>A) c.1201G>A | gnomAD v4 |
20 | g.45947900G= | CA2366448004 | PCIF1 | c.*145G= (n.*145G=) c.1201G= | |
20 | g.45947900G>T | CA315641505 | PCIF1 | c.*145G>T (n.*145G>T) c.1201G>T | dbSNP gnomAD v4 |
20 | g.45947903C>A | CA2653107731 | PCIF1 | c.*148C>A (n.*148C>A) c.1204C>A | gnomAD v4 |
20 | g.45947903C>G | CA2653107733 | PCIF1 | c.*148C>G (n.*148C>G) c.1204C>G | gnomAD v4 |
20 | g.45947903C>T | CA2653107732 | PCIF1 | c.*148C>T (n.*148C>T) c.1204C>T | gnomAD v4 |
20 | g.45947904T>G | CA2653107734 | PCIF1 | c.*149T>G (n.*149T>G) c.1205T>G | gnomAD v4 |
20 | g.45947905C>A | CA2653107735 | PCIF1 | c.*150C>A (n.*150C>A) c.1206C>A | gnomAD v4 |
20 | g.45947905C= | CA2366448005 | PCIF1 | c.*150C= (n.*150C=) c.1206C= | |
20 | g.45947905C>T | CA2366448006 | PCIF1 | c.*150C>T (n.*150C>T) c.1206C>T | dbSNP |
20 | g.45947907C= | CA2366448007 | PCIF1 | c.*152C= (n.*152C=) c.1208C= | |
20 | g.45947907C>G | CA2556876383 | PCIF1 | c.*152C>G (n.*152C>G) c.1208C>G | |
20 | g.45947907C>T | CA315641510 | PCIF1 | c.*152C>T (n.*152C>T) c.1208C>T | dbSNP gnomAD v4 |
20 | g.45947908C= | CA2366448008 | PCIF1 | c.*153C= (n.*153C=) c.1209C= | |
20 | g.45947908C>T | CA315641518 | PCIF1 | c.*153C>T (n.*153C>T) c.1209C>T | dbSNP gnomAD v4 |
20 | g.45947909T>G | CA2366448010 | PCIF1 | c.*154T>G (n.*154T>G) c.1210T>G | dbSNP gnomAD v4 |
20 | g.45947909T= | CA2366448009 | PCIF1 | c.*154T= (n.*154T=) c.1210T= | |
20 | g.45947910C= | CA2366448011 | PCIF1 | c.*155C= (n.*155C=) c.1211C= |