Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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>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.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 | |
20 | g.45948006C>A | CA2653107800 | PCIF1 | c.*251C>A (n.*251C>A) c.1307C>A | gnomAD v4 |
20 | g.45948006C= | CA2366448070 | PCIF1 | c.*251C= (n.*251C=) c.1307C= | |
20 | g.45948006C>T | CA744845337 | PCIF1 | c.*251C>T (n.*251C>T) c.1307C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45948007A>T | CA2653107802 | PCIF1 | c.*252A>T (n.*252A>T) c.1308A>T | gnomAD v4 |
20 | g.45948008_45948010dup | CA2653107801 | PCIF1 | c.*253_*255dup (n.*253_*255dup) c.1309_1311dup | gnomAD v4 |
20 | g.45948008_45948010del | CA2816513982 | PCIF1 | c.*253_*255del (n.*253_*255del) c.1309_1311del | |
20 | g.45948010A= | CA2366448071 | PCIF1 | c.*255A= (n.*255A=) c.1311A= | |
20 | g.45948010A>G | CA2653107803 | PCIF1 | c.*255A>G (n.*255A>G) c.1311A>G | gnomAD v4 |
20 | g.45948010_45948011insCCACCT | CA2366448074 | PCIF1 | c.*255_*256insCCACCT (n.*255_*256insCCACCT) c.1311_1312insCCACCT | dbSNP |
20 | g.45948011A= | CA2366448072 | PCIF1 | c.*256A= (n.*256A=) c.1312A= | |
20 | g.45948011A>C | CA9884715 | PCIF1 | c.*256A>C (n.*256A>C) c.1312A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45948011_45948014delinsACCC | CA2366448073 | PCIF1 | c.*256_*259delinsACCC (n.*256_*259delinsACCC) c.1312_1315delinsACCC | |
20 | g.45948012C>A | CA2653107804 | PCIF1 | c.*257C>A (n.*257C>A) c.1313C>A | gnomAD v4 |
20 | g.45948012C= | CA2366448075 | PCIF1 | c.*257C= (n.*257C=) c.1313C= | |
20 | g.45948012C>T | CA2366448076 | PCIF1 | c.*257C>T (n.*257C>T) c.1313C>T | dbSNP gnomAD v4 |
20 | g.45948018dup | CA9884716 | PCIF1 | c.*263dup (n.*263dup) c.1319dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45948018del | CA920221988 | PCIF1 | c.*263del (n.*263del) c.1319del | dbSNP gnomAD v4 |
20 | g.45948016_45948018del | CA636031938 | PCIF1 | c.*261_*263del (n.*261_*263del) c.1317_1319del | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45948013C>A | CA2653107805 | PCIF1 | c.*258C>A (n.*258C>A) c.1314C>A | gnomAD v4 |
20 | g.45948013C= | CA2366448077 | PCIF1 | c.*258C= (n.*258C=) c.1314C= | |
20 | g.45948013C>T | CA744845338 | PCIF1 | c.*258C>T (n.*258C>T) c.1314C>T | dbSNP |
20 | g.45948014C= | CA2366448078 | PCIF1 | c.*259C= (n.*259C=) c.1315C= | |
20 | g.45948014C>G | CA2653107806 | PCIF1 | c.*259C>G (n.*259C>G) c.1315C>G | gnomAD v4 |
20 | g.45948014C>T | CA2366448079 | PCIF1 | c.*259C>T (n.*259C>T) c.1315C>T | dbSNP gnomAD v4 |
20 | g.45948015C= | CA2366448080 | PCIF1 | c.*260C= (n.*260C=) c.1316C= | |
20 | g.45948015C>G | CA636031939 | PCIF1 | c.*260C>G (n.*260C>G) c.1316C>G | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45948015C>T | CA2653107807 | PCIF1 | c.*260C>T (n.*260C>T) c.1316C>T | gnomAD v4 |
20 | g.45948016C>G | CA2653107808 | PCIF1 | c.*261C>G (n.*261C>G) c.1317C>G | gnomAD v4 |
20 | g.45948016C>T | CA2653107809 | PCIF1 | c.*261C>T (n.*261C>T) c.1317C>T | gnomAD v4 |
20 | g.45948017C>A | CA9884717 | PCIF1 | c.*262C>A (n.*262C>A) c.1318C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45948017C= | CA2366448081 | PCIF1 | c.*262C= (n.*262C=) c.1318C= | |
20 | g.45948017C>G | CA636031940 | PCIF1 | c.*262C>G (n.*262C>G) c.1318C>G | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45948017C>T | CA315641673 | PCIF1 | c.*262C>T (n.*262C>T) c.1318C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45948018C>A | CA2366448083 | PCIF1 | c.*263C>A (n.*263C>A) c.1319C>A | dbSNP gnomAD v4 |
20 | g.45948018C= | CA2366448082 | PCIF1 | c.*263C= (n.*263C=) c.1319C= | |
20 | g.45948018C>G | CA2653107810 | PCIF1 | c.*263C>G (n.*263C>G) c.1319C>G | gnomAD v4 |
20 | g.45948019A>C | CA2653107811 | PCIF1 | c.*264A>C (n.*264A>C) c.1320A>C | gnomAD v4 |
20 | g.45948019A>G | CA2653107812 | PCIF1 | c.*264A>G (n.*264A>G) c.1320A>G | gnomAD v4 |
20 | g.45948020A>G | CA2653107813 | PCIF1 | c.*265A>G (n.*265A>G) c.1321A>G | gnomAD v4 |
20 | g.45948021G>A | CA2653107814 | PCIF1 | c.*266G>A (n.*266G>A) c.1322G>A | gnomAD v4 |
20 | g.45948022A= | CA2366448084 | PCIF1 | c.*267A= (n.*267A=) c.1323A= | |
20 | g.45948022A>G | CA2366448085 | PCIF1 | c.*267A>G (n.*267A>G) c.1323A>G | dbSNP gnomAD v4 |
20 | g.45948023A>C | CA2653107815 | PCIF1 | c.*268A>C (n.*268A>C) c.1324A>C | gnomAD v4 |
20 | g.45948023_45948025delinsATG | CA2366448086 | |||
20 | g.45948024T>C | CA2816513983 | |||
20 | g.45948028_45948029del | CA636031941 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
20 | g.45948025G>T | CA2577413027 | |||
20 | g.45948026T>A | CA2653107816 | gnomAD v4 | ||
20 | g.45948026T>C | CA2653107817 | gnomAD v4 |