Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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= | |
20 | g.45947910C>T | CA315641522 | PCIF1 | c.*155C>T (n.*155C>T) c.1211C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947911A>T | CA2577413005 | PCIF1 | c.*156A>T (n.*156A>T) c.1212A>T | |
20 | g.45947912A= | CA2366448012 | PCIF1 | c.*157A= (n.*157A=) c.1213A= | |
20 | g.45947912A>G | CA315641537 | PCIF1 | c.*157A>G (n.*157A>G) c.1213A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947912A>T | CA2577413006 | PCIF1 | c.*157A>T (n.*157A>T) c.1213A>T | |
20 | g.45947913A>G | CA2653107736 | PCIF1 | c.*158A>G (n.*158A>G) c.1214A>G | gnomAD v4 |
20 | g.45947914C>T | CA2653107737 | PCIF1 | c.*159C>T (n.*159C>T) c.1215C>T | gnomAD v4 |
20 | g.45947918_45947921del | CA2577413007 | PCIF1 | c.*163_*166del (n.*163_*166del) c.1219_1222del | gnomAD v4 |
20 | g.45947915T>C | CA2366448014 | PCIF1 | c.*160T>C (n.*160T>C) c.1216T>C | dbSNP gnomAD v4 |
20 | g.45947915T= | CA2366448013 | PCIF1 | c.*160T= (n.*160T=) c.1216T= | |
20 | g.45947916C>A | CA2653107739 | PCIF1 | c.*161C>A (n.*161C>A) c.1217C>A | gnomAD v4 |
20 | g.45947916C= | CA2366448015 | PCIF1 | c.*161C= (n.*161C=) c.1217C= | |
20 | g.45947916C>T | CA744845282 | PCIF1 | c.*161C>T (n.*161C>T) c.1217C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947918del | CA2653107738 | PCIF1 | c.*163del (n.*163del) c.1219del | gnomAD v4 |
20 | g.45947917C>A | CA1017930239 | PCIF1 | c.*162C>A (n.*162C>A) c.1218C>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947917C= | CA2366448016 | PCIF1 | c.*162C= (n.*162C=) c.1218C= | |
20 | g.45947917C>T | CA1017930236 | PCIF1 | c.*162C>T (n.*162C>T) c.1218C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947918C>A | CA2653107740 | PCIF1 | c.*163C>A (n.*163C>A) c.1219C>A | gnomAD v4 |
20 | g.45947918C>T | CA2577413008 | PCIF1 | c.*163C>T (n.*163C>T) c.1219C>T | gnomAD v4 |
20 | g.45947919T>A | CA2653107741 | PCIF1 | c.*164T>A (n.*164T>A) c.1220T>A | gnomAD v4 |
20 | g.45947919T>C | CA2653107742 | PCIF1 | c.*164T>C (n.*164T>C) c.1220T>C | gnomAD v4 |
20 | g.45947920C>A | CA2653107744 | PCIF1 | c.*165C>A (n.*165C>A) c.1221C>A | gnomAD v4 |
20 | g.45947920C>T | CA2653107745 | PCIF1 | c.*165C>T (n.*165C>T) c.1221C>T | gnomAD v4 |
20 | g.45947921del | CA2653107743 | PCIF1 | c.*166del (n.*166del) c.1222del | gnomAD v4 |
20 | g.45947921C>A | CA2653107746 | PCIF1 | c.*166C>A (n.*166C>A) c.1222C>A | gnomAD v4 |
20 | g.45947922A= | CA2366448017 | PCIF1 | c.*167A= (n.*167A=) c.1223A= | |
20 | g.45947922A>G | CA2366448018 | PCIF1 | c.*167A>G (n.*167A>G) c.1223A>G | dbSNP |
20 | g.45947923A>G | CA2816513977 | PCIF1 | c.*168A>G (n.*168A>G) c.1224A>G | |
20 | g.45947924G>A | CA2366448020 | PCIF1 | c.*169G>A (n.*169G>A) c.1225G>A | dbSNP gnomAD v4 |
20 | g.45947924G>C | CA2653107747 | PCIF1 | c.*169G>C (n.*169G>C) c.1225G>C | gnomAD v4 |
20 | g.45947924G= | CA2366448019 | PCIF1 | c.*169G= (n.*169G=) c.1225G= | |
20 | g.45947924G>T | CA2653107748 | PCIF1 | c.*169G>T (n.*169G>T) c.1225G>T | gnomAD v4 |
20 | g.45947925_45947926delinsTC | CA2366448021 | PCIF1 | c.*170_*171delinsTC (n.*170_*171delinsTC) c.1226_1227delinsTC | |
20 | g.45947926C>A | CA2653107750 | PCIF1 | c.*171C>A (n.*171C>A) c.1227C>A | gnomAD v4 |
20 | g.45947926C>G | CA2653107749 | PCIF1 | c.*171C>G (n.*171C>G) c.1227C>G | gnomAD v4 |
20 | g.45947928del | CA9884709 | PCIF1 | c.*173del (n.*173del) c.1229del | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.45947927C>A | CA2653107751 | PCIF1 | c.*172C>A (n.*172C>A) c.1228C>A | gnomAD v4 |
20 | g.45947927C= | CA2366448022 | PCIF1 | c.*172C= (n.*172C=) c.1228C= | |
20 | g.45947927C>G | CA636176182 | PCIF1 | c.*172C>G (n.*172C>G) c.1228C>G | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947927C>T | CA636176183 | PCIF1 | c.*172C>T (n.*172C>T) c.1228C>T | dbSNP gnomAD v2 |
20 | g.45947928C>A | CA2653107752 | PCIF1 | c.*173C>A (n.*173C>A) c.1229C>A | gnomAD v4 |
20 | g.45947928C= | CA2366448023 | PCIF1 | c.*173C= (n.*173C=) c.1229C= | |
20 | g.45947928C>T | CA636176184 | PCIF1 | c.*173C>T (n.*173C>T) c.1229C>T | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947929A= | CA2366448024 | PCIF1 | c.*174A= (n.*174A=) c.1230A= | |
20 | g.45947929A>G | CA636176185 | PCIF1 | c.*174A>G (n.*174A>G) c.1230A>G | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947930T>A | CA2653107754 | PCIF1 | c.*175T>A (n.*175T>A) c.1231T>A | gnomAD v4 |
20 | g.45947930T>C | CA2653107753 | PCIF1 | c.*175T>C (n.*175T>C) c.1231T>C | gnomAD v4 |
20 | g.45947931G>A | CA2653107755 | PCIF1 | c.*176G>A (n.*176G>A) c.1232G>A | gnomAD v4 |
20 | g.45947931G>C | CA2577413009 | PCIF1 | c.*176G>C (n.*176G>C) c.1232G>C | |
20 | g.45947931G>T | CA2816513979 | PCIF1 | c.*176G>T (n.*176G>T) c.1232G>T | |
20 | g.45947931_45947933delinsGTA | CA2366448025 | PCIF1 | c.*176_*178delinsGTA (n.*176_*178delinsGTA) c.1232_1234delinsGTA | |
20 | g.45947936_45947937del | CA636176186 | PCIF1 | c.*181_*182del (n.*181_*182del) c.1237_1238del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947933A= | CA2366448026 | PCIF1 | c.*178A= (n.*178A=) c.1234A= | |
20 | g.45947933A>C | CA2366448027 | PCIF1 | c.*178A>C (n.*178A>C) c.1234A>C | dbSNP gnomAD v4 |
20 | g.45947933A>G | CA2577413010 | PCIF1 | c.*178A>G (n.*178A>G) c.1234A>G | gnomAD v4 |
20 | g.45947934T>C | CA2653107756 | PCIF1 | c.*179T>C (n.*179T>C) c.1235T>C | gnomAD v4 |
20 | g.45947935A= | CA2366448028 | PCIF1 | c.*180A= (n.*180A=) c.1236A= | |
20 | g.45947935A>G | CA315641541 | PCIF1 | c.*180A>G (n.*180A>G) c.1236A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947935_45947937dup | CA2653107757 | PCIF1 | c.*180_*182dup (n.*180_*182dup) c.1236_1238dup | gnomAD v4 |
20 | g.45947936T>C | CA2653107758 | PCIF1 | c.*181T>C (n.*181T>C) c.1237T>C | gnomAD v4 |
20 | g.45947937A= | CA2366448029 | PCIF1 | c.*182A= (n.*182A=) c.1238A= | |
20 | g.45947937A>C | CA2653107759 | PCIF1 | c.*182A>C (n.*182A>C) c.1238A>C | gnomAD v4 |
20 | g.45947937A>G | CA636031923 | PCIF1 | c.*182A>G (n.*182A>G) c.1238A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947939G>A | CA636031924 | PCIF1 | c.*184G>A (n.*184G>A) c.1240G>A | dbSNP gnomAD v2 |
20 | g.45947939G= | CA2366448030 | PCIF1 | c.*184G= (n.*184G=) c.1240G= | |
20 | g.45947941C>A | CA2653107760 | PCIF1 | c.*186C>A (n.*186C>A) c.1242C>A | gnomAD v4 |
20 | g.45947941C= | CA2366448031 | PCIF1 | c.*186C= (n.*186C=) c.1242C= | |
20 | g.45947941C>T | CA9884710 | PCIF1 | c.*186C>T (n.*186C>T) c.1242C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947941_45947954dup | CA2653107761 | PCIF1 | c.*186_*199dup (n.*186_*199dup) c.1242_1255dup | gnomAD v4 |
20 | g.45947942C>A | CA2653107762 | PCIF1 | c.*187C>A (n.*187C>A) c.1243C>A | gnomAD v4 |
20 | g.45947942C>T | CA2653107763 | PCIF1 | c.*187C>T (n.*187C>T) c.1243C>T | gnomAD v4 |
20 | g.45947943T>C | CA744845301 | PCIF1 | c.*188T>C (n.*188T>C) c.1244T>C | dbSNP gnomAD v4 |
20 | g.45947943T>G | CA2653107764 | PCIF1 | c.*188T>G (n.*188T>G) c.1244T>G | gnomAD v4 |
20 | g.45947943T= | CA2366448032 | PCIF1 | c.*188T= (n.*188T=) c.1244T= | |
20 | g.45947944G>C | CA636031925 | PCIF1 | c.*189G>C (n.*189G>C) c.1245G>C | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947944G= | CA2366448033 | PCIF1 | c.*189G= (n.*189G=) c.1245G= | |
20 | g.45947945A= | CA2366448034 | PCIF1 | c.*190A= (n.*190A=) c.1246A= | |
20 | g.45947945A>C | CA2839318085 | PCIF1 | c.*190A>C (n.*190A>C) c.1246A>C | |
20 | g.45947945A>G | CA315641556 | PCIF1 | c.*190A>G (n.*190A>G) c.1246A>G | dbSNP |
20 | g.45947946T>C | CA2653107765 | PCIF1 | c.*191T>C (n.*191T>C) c.1247T>C | gnomAD v4 |
20 | g.45947947G>A | CA315641564 | PCIF1 | c.*192G>A (n.*192G>A) c.1248G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947947G= | CA2366448035 | PCIF1 | c.*192G= (n.*192G=) c.1248G= | |
20 | g.45947947G>T | CA2653107766 | PCIF1 | c.*192G>T (n.*192G>T) c.1248G>T | gnomAD v4 |
20 | g.45947949C>A | CA2653107767 | PCIF1 | c.*194C>A (n.*194C>A) c.1250C>A | gnomAD v4 |
20 | g.45947949C= | CA2366448036 | PCIF1 | c.*194C= (n.*194C=) c.1250C= | |
20 | g.45947949C>G | CA2366448037 | PCIF1 | c.*194C>G (n.*194C>G) c.1250C>G | dbSNP gnomAD v4 |
20 | g.45947949C>T | CA2653107768 | PCIF1 | c.*194C>T (n.*194C>T) c.1250C>T | gnomAD v4 |
20 | g.45947950T>C | CA2653107769 | PCIF1 | c.*195T>C (n.*195T>C) c.1251T>C | gnomAD v4 |
20 | g.45947951T>A | CA2653107771 | PCIF1 | c.*196T>A (n.*196T>A) c.1252T>A | gnomAD v4 |
20 | g.45947951T>C | CA2653107770 | PCIF1 | c.*196T>C (n.*196T>C) c.1252T>C | gnomAD v4 |
20 | g.45947951_45947952delinsTC | CA2366448038 | PCIF1 | c.*196_*197delinsTC (n.*196_*197delinsTC) c.1252_1253delinsTC | |
20 | g.45947952C= | CA2366448039 | PCIF1 | c.*197C= (n.*197C=) c.1253C= | |
20 | g.45947952C>T | CA2366448040 | PCIF1 | c.*197C>T (n.*197C>T) c.1253C>T | dbSNP gnomAD v4 |
20 | g.45947954del | CA9884711 | PCIF1 | c.*199del (n.*199del) c.1255del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947953C= | CA2366448041 | PCIF1 | c.*198C= (n.*198C=) c.1254C= | |
20 | g.45947953C>G | CA2653107772 | PCIF1 | c.*198C>G (n.*198C>G) c.1254C>G | gnomAD v4 |
20 | g.45947953C>T | CA315641567 | PCIF1 | c.*198C>T (n.*198C>T) c.1254C>T | dbSNP |
20 | g.45947954C>A | CA2653107773 | PCIF1 | c.*199C>A (n.*199C>A) c.1255C>A | gnomAD v4 |
20 | g.45947954C= | CA2366448042 | PCIF1 | c.*199C= (n.*199C=) c.1255C= | |
20 | g.45947954C>G | CA315641568 | PCIF1 | c.*199C>G (n.*199C>G) c.1255C>G | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947954C>T | CA2551883993 | PCIF1 | c.*199C>T (n.*199C>T) c.1255C>T | gnomAD v4 |
20 | g.45947955A= | CA2366448043 | PCIF1 | c.*200A= (n.*200A=) c.1256A= | |
20 | g.45947955A>C | CA636031926 | PCIF1 | c.*200A>C (n.*200A>C) c.1256A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947956A= | CA2366448044 | PCIF1 | c.*201A= (n.*201A=) c.1257A= | |
20 | g.45947956A>C | CA315641570 | PCIF1 | c.*201A>C (n.*201A>C) c.1257A>C | dbSNP |
20 | g.45947956A>G | CA744845308 | PCIF1 | c.*201A>G (n.*201A>G) c.1257A>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947956A>T | CA2842603151 | PCIF1 | c.*201A>T (n.*201A>T) c.1257A>T | |
20 | g.45947958C>A | CA2653107774 | PCIF1 | c.*203C>A (n.*203C>A) c.1259C>A | gnomAD v4 |
20 | g.45947958C>T | CA2577413011 | PCIF1 | c.*203C>T (n.*203C>T) c.1259C>T | |
20 | g.45947959C= | CA2366448045 | PCIF1 | c.*204C= (n.*204C=) c.1260C= | |
20 | g.45947959C>G | CA636031927 | PCIF1 | c.*204C>G (n.*204C>G) c.1260C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947960C>A | CA2653107775 | PCIF1 | c.*205C>A (n.*205C>A) c.1261C>A | gnomAD v4 |
20 | g.45947960C= | CA2366448046 | PCIF1 | c.*205C= (n.*205C=) c.1261C= | |
20 | g.45947960C>G | CA2577413012 | PCIF1 | c.*205C>G (n.*205C>G) c.1261C>G | |
20 | g.45947960C>T | CA9884712 | PCIF1 | c.*205C>T (n.*205C>T) c.1261C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947961G>A | CA9884713 | PCIF1 | c.*206G>A (n.*206G>A) c.1262G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947961G>C | CA315641574 | PCIF1 | c.*206G>C (n.*206G>C) c.1262G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947961G= | CA2366448047 | PCIF1 | c.*206G= (n.*206G=) c.1262G= | |
20 | g.45947961G>T | CA636031928 | PCIF1 | c.*206G>T (n.*206G>T) c.1262G>T | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947962C>T | CA2653107776 | PCIF1 | c.*207C>T (n.*207C>T) c.1263C>T | gnomAD v4 |
20 | g.45947965dup | CA744845313 | PCIF1 | c.*210dup (n.*210dup) c.1266dup | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947963C>A | CA2653107777 | PCIF1 | c.*208C>A (n.*208C>A) c.1264C>A | gnomAD v4 |
20 | g.45947963C= | CA2366448048 | PCIF1 | c.*208C= (n.*208C=) c.1264C= | |
20 | g.45947963C>T | CA636031929 | PCIF1 | c.*208C>T (n.*208C>T) c.1264C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947964C>A | CA2653107778 | PCIF1 | c.*209C>A (n.*209C>A) c.1265C>A | gnomAD v4 |
20 | g.45947964C>T | CA2577413013 | PCIF1 | c.*209C>T (n.*209C>T) c.1265C>T | gnomAD v4 |
20 | g.45947965C>A | CA2653107780 | PCIF1 | c.*210C>A (n.*210C>A) c.1266C>A | gnomAD v4 |
20 | g.45947965C= | CA2366448049 | PCIF1 | c.*210C= (n.*210C=) c.1266C= | |
20 | g.45947965C>G | CA2653107779 | PCIF1 | c.*210C>G (n.*210C>G) c.1266C>G | gnomAD v4 |
20 | g.45947965C>T | CA2366448050 | PCIF1 | c.*210C>T (n.*210C>T) c.1266C>T | dbSNP gnomAD v4 |
20 | g.45947967C= | CA2366448051 | PCIF1 | c.*212C= (n.*212C=) c.1268C= | |
20 | g.45947967C>T | CA315641575 | PCIF1 | c.*212C>T (n.*212C>T) c.1268C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947969C>A | CA2366448053 | PCIF1 | c.*214C>A (n.*214C>A) c.1270C>A | dbSNP |
20 | g.45947969C= | CA2366448052 | PCIF1 | c.*214C= (n.*214C=) c.1270C= | |
20 | g.45947969C>T | CA315641576 | PCIF1 | c.*214C>T (n.*214C>T) c.1270C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947970C>A | CA2739724520 | PCIF1 | c.*215C>A (n.*215C>A) c.1271C>A | |
20 | g.45947970C= | CA2366448054 | PCIF1 | c.*215C= (n.*215C=) c.1271C= | |
20 | g.45947970C>G | CA2739724521 | PCIF1 | c.*215C>G (n.*215C>G) c.1271C>G | |
20 | g.45947970C>T | CA1017930250 | PCIF1 | c.*215C>T (n.*215C>T) c.1271C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947970_45947972delinsCCT | CA2366448055 | PCIF1 | c.*215_*217delinsCCT (n.*215_*217delinsCCT) c.1271_1273delinsCCT | |
20 | g.45947971C>A | CA2653107781 | PCIF1 | c.*216C>A (n.*216C>A) c.1272C>A | gnomAD v4 |
20 | g.45947971C>G | CA2739724523 | PCIF1 | c.*216C>G (n.*216C>G) c.1272C>G | |
20 | g.45947971C>T | CA2739724522 | PCIF1 | c.*216C>T (n.*216C>T) c.1272C>T | |
20 | g.45947971_45947972del | CA1017930251 | PCIF1 | c.*216_*217del (n.*216_*217del) c.1272_1273del | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947972T>C | CA636031930 | PCIF1 | c.*217T>C (n.*217T>C) c.1273T>C | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947972T>G | CA2653107782 | PCIF1 | c.*217T>G (n.*217T>G) c.1273T>G | gnomAD v4 |
20 | g.45947972T= | CA2366448056 | PCIF1 | c.*217T= (n.*217T=) c.1273T= | |
20 | g.45947973G>A | CA2653107783 | PCIF1 | c.*218G>A (n.*218G>A) c.1274G>A | gnomAD v4 |
20 | g.45947973G>C | CA1017930253 | PCIF1 | c.*218G>C (n.*218G>C) c.1274G>C | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947973G= | CA2366448057 | PCIF1 | c.*218G= (n.*218G=) c.1274G= | |
20 | g.45947973G>T | CA2577413014 | PCIF1 | c.*218G>T (n.*218G>T) c.1274G>T | |
20 | g.45947974T>A | CA2739724524 | PCIF1 | c.*219T>A (n.*219T>A) c.1275T>A | |
20 | g.45947974T>C | CA9884714 | PCIF1 | c.*219T>C (n.*219T>C) c.1275T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.45947974T>G | CA2739724525 | PCIF1 | c.*219T>G (n.*219T>G) c.1275T>G | |
20 | g.45947974T= | CA2366448058 | PCIF1 | c.*219T= (n.*219T=) c.1275T= | |
20 | g.45947976G>A | CA636031931 | PCIF1 | c.*221G>A (n.*221G>A) c.1277G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947976G>C | CA2653107784 | PCIF1 | c.*221G>C (n.*221G>C) c.1277G>C | gnomAD v4 |
20 | g.45947976G= | CA2366448059 | PCIF1 | c.*221G= (n.*221G=) c.1277G= | |
20 | g.45947976G>T | CA2739724526 | PCIF1 | c.*221G>T (n.*221G>T) c.1277G>T | |
20 | g.45947977C>A | CA2739724527 | PCIF1 | c.*222C>A (n.*222C>A) c.1278C>A | |
20 | g.45947977C>G | CA2739724528 | PCIF1 | c.*222C>G (n.*222C>G) c.1278C>G | |
20 | g.45947977C>T | CA2577413015 | PCIF1 | c.*222C>T (n.*222C>T) c.1278C>T | gnomAD v4 |
20 | g.45947978C>T | CA2653107785 | PCIF1 | c.*223C>T (n.*223C>T) c.1279C>T | gnomAD v4 |
20 | g.45947979A>C | CA2736988115 | PCIF1 | c.*224A>C (n.*224A>C) c.1280A>C | dbSNP |
20 | g.45947979A>G | CA2653107786 | PCIF1 | c.*224A>G (n.*224A>G) c.1280A>G | gnomAD v4 |
20 | g.45947979A>T | CA2653107787 | PCIF1 | c.*224A>T (n.*224A>T) c.1280A>T | gnomAD v4 |
20 | g.45947980C>A | CA2739724529 | PCIF1 | c.*225C>A (n.*225C>A) c.1281C>A | |
20 | g.45947980C= | CA2366448060 | PCIF1 | c.*225C= (n.*225C=) c.1281C= | |
20 | g.45947980C>G | CA2739724530 | PCIF1 | c.*225C>G (n.*225C>G) c.1281C>G | |
20 | g.45947980C>T | CA315641625 | PCIF1 | c.*225C>T (n.*225C>T) c.1281C>T | dbSNP |
20 | g.45947981C>A | CA2816513981 | PCIF1 | c.*226C>A (n.*226C>A) c.1282C>A | |
20 | g.45947981C>T | CA2653107788 | PCIF1 | c.*226C>T (n.*226C>T) c.1282C>T | gnomAD v4 |
20 | g.45947982T>A | CA2653107789 | PCIF1 | c.*227T>A (n.*227T>A) c.1283T>A | gnomAD v4 |
20 | g.45947982T>C | CA636031932 | PCIF1 | c.*227T>C (n.*227T>C) c.1283T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947982T>G | CA2739724531 | PCIF1 | c.*227T>G (n.*227T>G) c.1283T>G | |
20 | g.45947982T= | CA2366448061 | PCIF1 | c.*227T= (n.*227T=) c.1283T= | |
20 | g.45947982_45947984delinsTTG | CA2366448062 | PCIF1 | c.*227_*229delinsTTG (n.*227_*229delinsTTG) c.1283_1285delinsTTG | |
20 | g.45947984_45947987del | CA2577413016 | PCIF1 | c.*229_*232del (n.*229_*232del) c.1285_1288del | gnomAD v4 |
20 | g.45947983T>C | CA2739724532 | PCIF1 | c.*228T>C (n.*228T>C) c.1284T>C | |
20 | g.45947983T>G | CA2739724533 | PCIF1 | c.*228T>G (n.*228T>G) c.1284T>G | |
20 | g.45947984_45947985del | CA636031933 | PCIF1 | c.*229_*230del (n.*229_*230del) c.1285_1286del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947984G>A | CA636031934 | PCIF1 | c.*229G>A (n.*229G>A) c.1285G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947984G>C | CA2653107790 | PCIF1 | c.*229G>C (n.*229G>C) c.1285G>C | gnomAD v4 |
20 | g.45947984G= | CA2366448063 | PCIF1 | c.*229G= (n.*229G=) c.1285G= | |
20 | g.45947984G>T | CA2739724534 | PCIF1 | c.*229G>T (n.*229G>T) c.1285G>T | |
20 | g.45947985T>A | CA2739724535 | PCIF1 | c.*230T>A (n.*230T>A) c.1286T>A | |
20 | g.45947985T>C | CA2577413018 | PCIF1 | c.*230T>C (n.*230T>C) c.1286T>C | |
20 | g.45947985T>G | CA2739724536 | PCIF1 | c.*230T>G (n.*230T>G) c.1286T>G | |
20 | g.45947987del | CA2653107791 | PCIF1 | c.*232del (n.*232del) c.1288del | gnomAD v4 |
20 | g.45947986T>A | CA2739724539 | PCIF1 | c.*231T>A (n.*231T>A) c.1287T>A | |
20 | g.45947986T>C | CA2739724538 | PCIF1 | c.*231T>C (n.*231T>C) c.1287T>C | |
20 | g.45947986T>G | CA2739724537 | PCIF1 | c.*231T>G (n.*231T>G) c.1287T>G | |
20 | g.45947987T>A | CA2739724540 | PCIF1 | c.*232T>A (n.*232T>A) c.1288T>A | |
20 | g.45947987T>C | CA2577413020 | PCIF1 | c.*232T>C (n.*232T>C) c.1288T>C | |
20 | g.45947987T>G | CA2739724541 | PCIF1 | c.*232T>G (n.*232T>G) c.1288T>G | |
20 | g.45947988C>A | CA2739724542 | PCIF1 | c.*233C>A (n.*233C>A) c.1289C>A | |
20 | g.45947988C>G | CA2739724543 | PCIF1 | c.*233C>G (n.*233C>G) c.1289C>G | |
20 | g.45947988C>T | CA2653107792 | PCIF1 | c.*233C>T (n.*233C>T) c.1289C>T | gnomAD v4 |
20 | g.45947989A>C | CA2739724544 | PCIF1 | c.*234A>C (n.*234A>C) c.1290A>C | |
20 | g.45947989A>G | CA2739724545 | PCIF1 | c.*234A>G (n.*234A>G) c.1290A>G | |
20 | g.45947989A>T | CA2739724546 | PCIF1 | c.*234A>T (n.*234A>T) c.1290A>T | |
20 | g.45947990T>A | CA636031935 | PCIF1 | c.*235T>A (n.*235T>A) c.1291T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947990T>G | CA2739724547 | PCIF1 | c.*235T>G (n.*235T>G) c.1291T>G | |
20 | g.45947990T= | CA2366448064 | PCIF1 | c.*235T= (n.*235T=) c.1291T= | |
20 | g.45947991T>A | CA2739724548 | PCIF1 | c.*236T>A (n.*236T>A) c.1292T>A | |
20 | g.45947991T>C | CA315641630 | PCIF1 | c.*236T>C (n.*236T>C) c.1292T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947991T>G | CA636031936 | PCIF1 | c.*236T>G (n.*236T>G) c.1292T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947991T= | CA2366448065 | PCIF1 | c.*236T= (n.*236T=) c.1292T= | |
20 | g.45947992T>C | CA315641635 | PCIF1 | c.*237T>C (n.*237T>C) c.1293T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947992T>G | CA2739724549 | PCIF1 | c.*237T>G (n.*237T>G) c.1293T>G | |
20 | g.45947992T= | CA2366448066 | PCIF1 | c.*237T= (n.*237T=) c.1293T= | |
20 | g.45947993G>A | CA2577413022 | PCIF1 | c.*238G>A (n.*238G>A) c.1294G>A | gnomAD v4 |
20 | g.45947993G>C | CA2739724550 | PCIF1 | c.*238G>C (n.*238G>C) c.1294G>C | |
20 | g.45947993G>T | CA2739724551 | PCIF1 | c.*238G>T (n.*238G>T) c.1294G>T | |
20 | g.45947994T>C | CA2653107793 | PCIF1 | c.*239T>C (n.*239T>C) c.1295T>C | gnomAD v4 |
20 | g.45947994T>G | CA2593339945 | PCIF1 | c.*239T>G (n.*239T>G) c.1295T>G | gnomAD v3 gnomAD v4 |
20 | g.45947995A= | CA2366448067 | PCIF1 | c.*240A= (n.*240A=) c.1296A= | |
20 | g.45947995A>G | CA315641639 | PCIF1 | c.*240A>G (n.*240A>G) c.1296A>G | dbSNP |
20 | g.45947995A>T | CA2366448068 | PCIF1 | c.*240A>T (n.*240A>T) c.1296A>T | dbSNP |
20 | g.45947998del | CA2653107794 | PCIF1 | c.*243del (n.*243del) c.1299del | gnomAD v4 |
20 | g.45947996A>G | CA2653107795 | PCIF1 | c.*241A>G (n.*241A>G) c.1297A>G | gnomAD v4 |
20 | g.45947997A>C | CA2653107796 | PCIF1 | c.*242A>C (n.*242A>C) c.1298A>C | gnomAD v4 |
20 | g.45947997A>G | CA2653107797 | PCIF1 | c.*242A>G (n.*242A>G) c.1298A>G | gnomAD v4 |
20 | g.45947999G>A | CA2653107798 | PCIF1 | c.*244G>A (n.*244G>A) c.1300G>A | gnomAD v4 |
20 | g.45948000G>A | CA636031937 | PCIF1 | c.*245G>A (n.*245G>A) c.1301G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45948000G>C | CA2653107799 | PCIF1 | c.*245G>C (n.*245G>C) c.1301G>C | gnomAD v4 |
20 | g.45948000G= | CA2366448069 | PCIF1 | c.*245G= (n.*245G=) c.1301G= | |
20 | g.45948001A>T | CA2558410014 | PCIF1 | c.*246A>T (n.*246A>T) c.1302A>T |