Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.44230570G>A	CA364306335	POLR1C,SLC29A1	c.592G>A (p.Gly198Ser) n.990G>A c.535G>A (p.Gly179Ser) c.279G>A n.781G>A c.829G>A (p.Gly277Ser) c.718G>A (p.Gly240Ser) c.670G>A (p.Gly224Ser) c.667G>A (p.Gly223Ser) c.721G>A (p.Gly241Ser) c.832G>A (p.Gly278Ser) c.946-211320G>A (n.946-211320G>A)
6	g.44230570G>C	CA364306333	POLR1C,SLC29A1	c.592G>C (p.Gly198Arg) n.990G>C c.535G>C (p.Gly179Arg) c.279G>C n.781G>C c.829G>C (p.Gly277Arg) c.718G>C (p.Gly240Arg) c.670G>C (p.Gly224Arg) c.667G>C (p.Gly223Arg) c.721G>C (p.Gly241Arg) c.832G>C (p.Gly278Arg) c.946-211320G>C (n.946-211320G>C)
6	g.44230570G>T	CA364306331	POLR1C,SLC29A1	c.592G>T (p.Gly198Cys) n.990G>T c.535G>T (p.Gly179Cys) c.279G>T n.781G>T c.829G>T (p.Gly277Cys) c.718G>T (p.Gly240Cys) c.670G>T (p.Gly224Cys) c.667G>T (p.Gly223Cys) c.721G>T (p.Gly241Cys) c.832G>T (p.Gly278Cys) c.946-211320G>T (n.946-211320G>T)
6	g.44230571G>A	CA364306338	POLR1C,SLC29A1	c.593G>A (p.Gly198Asp) n.991G>A c.536G>A (p.Gly179Asp) c.280G>A n.782G>A c.830G>A (p.Gly277Asp) c.719G>A (p.Gly240Asp) c.671G>A (p.Gly224Asp) c.668G>A (p.Gly223Asp) c.722G>A (p.Gly241Asp) c.833G>A (p.Gly278Asp) c.946-211319G>A (n.946-211319G>A)	gnomAD v4
6	g.44230571G>C	CA364306340	POLR1C,SLC29A1	c.593G>C (p.Gly198Ala) n.991G>C c.536G>C (p.Gly179Ala) c.280G>C n.782G>C c.830G>C (p.Gly277Ala) c.719G>C (p.Gly240Ala) c.671G>C (p.Gly224Ala) c.668G>C (p.Gly223Ala) c.722G>C (p.Gly241Ala) c.833G>C (p.Gly278Ala) c.946-211319G>C (n.946-211319G>C)	dbSNP
6	g.44230571G=	CA1624908411	POLR1C,SLC29A1	c.593G= (p.Gly198=) n.991G= c.536G= (p.Gly179=) c.280G= n.782G= c.830G= (p.Gly277=) c.719G= (p.Gly240=) c.671G= (p.Gly224=) c.668G= (p.Gly223=) c.722G= (p.Gly241=) c.833G= (p.Gly278=) c.946-211319G= (n.946-211319G=)
6	g.44230571G>T	CA364306342	POLR1C,SLC29A1	c.593G>T (p.Gly198Val) n.991G>T c.536G>T (p.Gly179Val) c.280G>T n.782G>T c.830G>T (p.Gly277Val) c.719G>T (p.Gly240Val) c.671G>T (p.Gly224Val) c.668G>T (p.Gly223Val) c.722G>T (p.Gly241Val) c.833G>T (p.Gly278Val) c.946-211319G>T (n.946-211319G>T)	gnomAD v4
6	g.44230572C>A	CA450308469	POLR1C,SLC29A1	c.594C>A (p.Gly198=) n.992C>A c.537C>A (p.Gly179=) c.281C>A n.783C>A c.831C>A (p.Gly277=) c.720C>A (p.Gly240=) c.672C>A (p.Gly224=) c.669C>A (p.Gly223=) c.723C>A (p.Gly241=) c.834C>A (p.Gly278=) c.946-211318C>A (n.946-211318C>A)
6	g.44230572C=	CA1624908416	POLR1C,SLC29A1	c.594C= (p.Gly198=) n.992C= c.537C= (p.Gly179=) c.281C= n.783C= c.831C= (p.Gly277=) c.720C= (p.Gly240=) c.672C= (p.Gly224=) c.669C= (p.Gly223=) c.723C= (p.Gly241=) c.834C= (p.Gly278=) c.946-211318C= (n.946-211318C=)
6	g.44230572C>G	CA450308470	POLR1C,SLC29A1	c.594C>G (p.Gly198=) n.992C>G c.537C>G (p.Gly179=) c.281C>G n.783C>G c.831C>G (p.Gly277=) c.720C>G (p.Gly240=) c.672C>G (p.Gly224=) c.669C>G (p.Gly223=) c.723C>G (p.Gly241=) c.834C>G (p.Gly278=) c.946-211318C>G (n.946-211318C>G)
6	g.44230572C>T	CA3831619	POLR1C,SLC29A1	c.594C>T (p.Gly198=) n.992C>T c.537C>T (p.Gly179=) c.281C>T n.783C>T c.831C>T (p.Gly277=) c.720C>T (p.Gly240=) c.672C>T (p.Gly224=) c.669C>T (p.Gly223=) c.723C>T (p.Gly241=) c.834C>T (p.Gly278=) c.946-211318C>T (n.946-211318C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.44230573T>A	CA364306346	POLR1C,SLC29A1	c.595T>A (p.Ser199Thr) n.993T>A c.538T>A (p.Ser180Thr) c.282T>A n.784T>A c.832T>A (p.Ser278Thr) c.721T>A (p.Ser241Thr) c.673T>A (p.Ser225Thr) c.670T>A (p.Ser224Thr) c.724T>A (p.Ser242Thr) c.835T>A (p.Ser279Thr) c.946-211317T>A (n.946-211317T>A)
6	g.44230573T>C	CA364306348	POLR1C,SLC29A1	c.595T>C (p.Ser199Pro) n.993T>C c.538T>C (p.Ser180Pro) c.282T>C n.784T>C c.832T>C (p.Ser278Pro) c.721T>C (p.Ser241Pro) c.673T>C (p.Ser225Pro) c.670T>C (p.Ser224Pro) c.724T>C (p.Ser242Pro) c.835T>C (p.Ser279Pro) c.946-211317T>C (n.946-211317T>C)	gnomAD v4
6	g.44230573T>G	CA364306350	POLR1C,SLC29A1	c.595T>G (p.Ser199Ala) n.993T>G c.538T>G (p.Ser180Ala) c.282T>G n.784T>G c.832T>G (p.Ser278Ala) c.721T>G (p.Ser241Ala) c.673T>G (p.Ser225Ala) c.670T>G (p.Ser224Ala) c.724T>G (p.Ser242Ala) c.835T>G (p.Ser279Ala) c.946-211317T>G (n.946-211317T>G)
6	g.44230574C>A	CA364306352	POLR1C,SLC29A1	c.596C>A (p.Ser199Ter) n.994C>A c.539C>A (p.Ser180Ter) c.283C>A n.785C>A c.833C>A (p.Ser278Ter) c.722C>A (p.Ser241Ter) c.674C>A (p.Ser225Ter) c.671C>A (p.Ser224Ter) c.725C>A (p.Ser242Ter) c.836C>A (p.Ser279Ter) c.946-211316C>A (n.946-211316C>A)
6	g.44230574C=	CA1624908419	POLR1C,SLC29A1	c.596C= (p.Ser199=) n.994C= c.539C= (p.Ser180=) c.283C= n.785C= c.833C= (p.Ser278=) c.722C= (p.Ser241=) c.674C= (p.Ser225=) c.671C= (p.Ser224=) c.725C= (p.Ser242=) c.836C= (p.Ser279=) c.946-211316C= (n.946-211316C=)
6	g.44230574C>G	CA364306354	POLR1C,SLC29A1	c.596C>G (p.Ser199Trp) n.994C>G c.539C>G (p.Ser180Trp) c.283C>G n.785C>G c.833C>G (p.Ser278Trp) c.722C>G (p.Ser241Trp) c.674C>G (p.Ser225Trp) c.671C>G (p.Ser224Trp) c.725C>G (p.Ser242Trp) c.836C>G (p.Ser279Trp) c.946-211316C>G (n.946-211316C>G)	dbSNP gnomAD v3 gnomAD v4
6	g.44230574C>T	CA3831620	POLR1C,SLC29A1	c.596C>T (p.Ser199Leu) n.994C>T c.539C>T (p.Ser180Leu) c.283C>T n.785C>T c.833C>T (p.Ser278Leu) c.722C>T (p.Ser241Leu) c.674C>T (p.Ser225Leu) c.671C>T (p.Ser224Leu) c.725C>T (p.Ser242Leu) c.836C>T (p.Ser279Leu) c.946-211316C>T (n.946-211316C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.44230575G>A	CA3831621	POLR1C,SLC29A1	c.597G>A (p.Ser199=) n.995G>A c.540G>A (p.Ser180=) c.284G>A n.786G>A c.834G>A (p.Ser278=) c.723G>A (p.Ser241=) c.675G>A (p.Ser225=) c.672G>A (p.Ser224=) c.726G>A (p.Ser242=) c.837G>A (p.Ser279=) c.946-211315G>A (n.946-211315G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.44230575G>C	CA450308474	POLR1C,SLC29A1	c.597G>C (p.Ser199=) n.995G>C c.540G>C (p.Ser180=) c.284G>C n.786G>C c.834G>C (p.Ser278=) c.723G>C (p.Ser241=) c.675G>C (p.Ser225=) c.672G>C (p.Ser224=) c.726G>C (p.Ser242=) c.837G>C (p.Ser279=) c.946-211315G>C (n.946-211315G>C)
6	g.44230575G=	CA1624908422	POLR1C,SLC29A1	c.597G= (p.Ser199=) n.995G= c.540G= (p.Ser180=) c.284G= n.786G= c.834G= (p.Ser278=) c.723G= (p.Ser241=) c.675G= (p.Ser225=) c.672G= (p.Ser224=) c.726G= (p.Ser242=) c.837G= (p.Ser279=) c.946-211315G= (n.946-211315G=)
6	g.44230575G>T	CA450308475	POLR1C,SLC29A1	c.597G>T (p.Ser199=) n.995G>T c.540G>T (p.Ser180=) c.284G>T n.786G>T c.834G>T (p.Ser278=) c.723G>T (p.Ser241=) c.675G>T (p.Ser225=) c.672G>T (p.Ser224=) c.726G>T (p.Ser242=) c.837G>T (p.Ser279=) c.946-211315G>T (n.946-211315G>T)
6	g.44230576G>A	CA364306359	POLR1C,SLC29A1	c.598G>A (p.Glu200Lys) n.996G>A c.541G>A (p.Glu181Lys) c.285G>A n.787G>A c.835G>A (p.Glu279Lys) c.724G>A (p.Glu242Lys) c.676G>A (p.Glu226Lys) c.673G>A (p.Glu225Lys) c.727G>A (p.Glu243Lys) c.838G>A (p.Glu280Lys) c.946-211314G>A (n.946-211314G>A)
6	g.44230576G>C	CA364306361	POLR1C,SLC29A1	c.598G>C (p.Glu200Gln) n.996G>C c.541G>C (p.Glu181Gln) c.285G>C n.787G>C c.835G>C (p.Glu279Gln) c.724G>C (p.Glu242Gln) c.676G>C (p.Glu226Gln) c.673G>C (p.Glu225Gln) c.727G>C (p.Glu243Gln) c.838G>C (p.Glu280Gln) c.946-211314G>C (n.946-211314G>C)
6	g.44230576G>T	CA364306363	POLR1C,SLC29A1	c.598G>T (p.Glu200Ter) n.996G>T c.541G>T (p.Glu181Ter) c.285G>T n.787G>T c.835G>T (p.Glu279Ter) c.724G>T (p.Glu242Ter) c.676G>T (p.Glu226Ter) c.673G>T (p.Glu225Ter) c.727G>T (p.Glu243Ter) c.838G>T (p.Glu280Ter) c.946-211314G>T (n.946-211314G>T)
6	g.44230577A=	CA1624908426	POLR1C,SLC29A1	c.599A= (p.Glu200=) n.997A= c.542A= (p.Glu181=) c.286A= n.788A= c.836A= (p.Glu279=) c.725A= (p.Glu242=) c.677A= (p.Glu226=) c.674A= (p.Glu225=) c.728A= (p.Glu243=) c.839A= (p.Glu280=) c.946-211313A= (n.946-211313A=)
6	g.44230577A>C	CA364306368	POLR1C,SLC29A1	c.599A>C (p.Glu200Ala) n.997A>C c.542A>C (p.Glu181Ala) c.286A>C n.788A>C c.836A>C (p.Glu279Ala) c.725A>C (p.Glu242Ala) c.677A>C (p.Glu226Ala) c.674A>C (p.Glu225Ala) c.728A>C (p.Glu243Ala) c.839A>C (p.Glu280Ala) c.946-211313A>C (n.946-211313A>C)
6	g.44230577A>G	CA364306370	POLR1C,SLC29A1	c.599A>G (p.Glu200Gly) n.997A>G c.542A>G (p.Glu181Gly) c.286A>G n.788A>G c.836A>G (p.Glu279Gly) c.725A>G (p.Glu242Gly) c.677A>G (p.Glu226Gly) c.674A>G (p.Glu225Gly) c.728A>G (p.Glu243Gly) c.839A>G (p.Glu280Gly) c.946-211313A>G (n.946-211313A>G)	dbSNP
6	g.44230577A>T	CA364306366	POLR1C,SLC29A1	c.599A>T (p.Glu200Val) n.997A>T c.542A>T (p.Glu181Val) c.286A>T n.788A>T c.836A>T (p.Glu279Val) c.725A>T (p.Glu242Val) c.677A>T (p.Glu226Val) c.674A>T (p.Glu225Val) c.728A>T (p.Glu243Val) c.839A>T (p.Glu280Val) c.946-211313A>T (n.946-211313A>T)	gnomAD v4
6	g.44230578G>A	CA138375327	POLR1C,SLC29A1	c.600G>A (p.Glu200=) n.998G>A c.543G>A (p.Glu181=) c.287G>A n.789G>A c.837G>A (p.Glu279=) c.726G>A (p.Glu242=) c.678G>A (p.Glu226=) c.675G>A (p.Glu225=) c.729G>A (p.Glu243=) c.840G>A (p.Glu280=) c.946-211312G>A (n.946-211312G>A)	dbSNP
6	g.44230578G>C	CA364306374	POLR1C,SLC29A1	c.600G>C (p.Glu200Asp) n.998G>C c.543G>C (p.Glu181Asp) c.287G>C n.789G>C c.837G>C (p.Glu279Asp) c.726G>C (p.Glu242Asp) c.678G>C (p.Glu226Asp) c.675G>C (p.Glu225Asp) c.729G>C (p.Glu243Asp) c.840G>C (p.Glu280Asp) c.946-211312G>C (n.946-211312G>C)
6	g.44230578G=	CA1624908430	POLR1C,SLC29A1	c.600G= (p.Glu200=) n.998G= c.543G= (p.Glu181=) c.287G= n.789G= c.837G= (p.Glu279=) c.726G= (p.Glu242=) c.678G= (p.Glu226=) c.675G= (p.Glu225=) c.729G= (p.Glu243=) c.840G= (p.Glu280=) c.946-211312G= (n.946-211312G=)
6	g.44230578G>T	CA364306376	POLR1C,SLC29A1	c.600G>T (p.Glu200Asp) n.998G>T c.543G>T (p.Glu181Asp) c.287G>T n.789G>T c.837G>T (p.Glu279Asp) c.726G>T (p.Glu242Asp) c.678G>T (p.Glu226Asp) c.675G>T (p.Glu225Asp) c.729G>T (p.Glu243Asp) c.840G>T (p.Glu280Asp) c.946-211312G>T (n.946-211312G>T)
6	g.44230579C>A	CA364306379	POLR1C,SLC29A1	c.601C>A (p.Leu201Ile) n.999C>A c.544C>A (p.Leu182Ile) c.288C>A n.790C>A c.838C>A (p.Leu280Ile) c.727C>A (p.Leu243Ile) c.679C>A (p.Leu227Ile) c.676C>A (p.Leu226Ile) c.730C>A (p.Leu244Ile) c.841C>A (p.Leu281Ile) c.946-211311C>A (n.946-211311C>A)
6	g.44230579C>G	CA364306381	POLR1C,SLC29A1	c.601C>G (p.Leu201Val) n.999C>G c.544C>G (p.Leu182Val) c.288C>G n.790C>G c.838C>G (p.Leu280Val) c.727C>G (p.Leu243Val) c.679C>G (p.Leu227Val) c.676C>G (p.Leu226Val) c.730C>G (p.Leu244Val) c.841C>G (p.Leu281Val) c.946-211311C>G (n.946-211311C>G)	gnomAD v4
6	g.44230579C>T	CA450308479	POLR1C,SLC29A1	c.601C>T (p.Leu201=) n.999C>T c.544C>T (p.Leu182=) c.288C>T n.790C>T c.838C>T (p.Leu280=) c.727C>T (p.Leu243=) c.679C>T (p.Leu227=) c.676C>T (p.Leu226=) c.730C>T (p.Leu244=) c.841C>T (p.Leu281=) c.946-211311C>T (n.946-211311C>T)
6	g.44230580T>A	CA364306388	POLR1C,SLC29A1	c.602T>A (p.Leu201Gln) n.1000T>A c.545T>A (p.Leu182Gln) c.289T>A n.791T>A c.839T>A (p.Leu280Gln) c.728T>A (p.Leu243Gln) c.680T>A (p.Leu227Gln) c.677T>A (p.Leu226Gln) c.731T>A (p.Leu244Gln) c.842T>A (p.Leu281Gln) c.946-211310T>A (n.946-211310T>A)
6	g.44230580T>C	CA364306386	POLR1C,SLC29A1	c.602T>C (p.Leu201Pro) n.1000T>C c.545T>C (p.Leu182Pro) c.289T>C n.791T>C c.839T>C (p.Leu280Pro) c.728T>C (p.Leu243Pro) c.680T>C (p.Leu227Pro) c.677T>C (p.Leu226Pro) c.731T>C (p.Leu244Pro) c.842T>C (p.Leu281Pro) c.946-211310T>C (n.946-211310T>C)
6	g.44230580T>G	CA364306384	POLR1C,SLC29A1	c.602T>G (p.Leu201Arg) n.1000T>G c.545T>G (p.Leu182Arg) c.289T>G n.791T>G c.839T>G (p.Leu280Arg) c.728T>G (p.Leu243Arg) c.680T>G (p.Leu227Arg) c.677T>G (p.Leu226Arg) c.731T>G (p.Leu244Arg) c.842T>G (p.Leu281Arg) c.946-211310T>G (n.946-211310T>G)
6	g.44230581A>C	CA450308481	POLR1C,SLC29A1	c.603A>C (p.Leu201=) n.1001A>C c.546A>C (p.Leu182=) c.290A>C n.792A>C c.840A>C (p.Leu280=) c.729A>C (p.Leu243=) c.681A>C (p.Leu227=) c.678A>C (p.Leu226=) c.732A>C (p.Leu244=) c.843A>C (p.Leu281=) c.946-211309A>C (n.946-211309A>C)
6	g.44230581A>G	CA450308482	POLR1C,SLC29A1	c.603A>G (p.Leu201=) n.1001A>G c.546A>G (p.Leu182=) c.290A>G n.792A>G c.840A>G (p.Leu280=) c.729A>G (p.Leu243=) c.681A>G (p.Leu227=) c.678A>G (p.Leu226=) c.732A>G (p.Leu244=) c.843A>G (p.Leu281=) c.946-211309A>G (n.946-211309A>G)
6	g.44230581A>T	CA450308484	POLR1C,SLC29A1	c.603A>T (p.Leu201=) n.1001A>T c.546A>T (p.Leu182=) c.290A>T n.792A>T c.840A>T (p.Leu280=) c.729A>T (p.Leu243=) c.681A>T (p.Leu227=) c.678A>T (p.Leu226=) c.732A>T (p.Leu244=) c.843A>T (p.Leu281=) c.946-211309A>T (n.946-211309A>T)
6	g.44230582T>A	CA364306391	POLR1C,SLC29A1	c.604T>A (p.Ser202Thr) n.1002T>A c.547T>A (p.Ser183Thr) c.291T>A n.793T>A c.841T>A (p.Ser281Thr) c.730T>A (p.Ser244Thr) c.682T>A (p.Ser228Thr) c.679T>A (p.Ser227Thr) c.733T>A (p.Ser245Thr) c.844T>A (p.Ser282Thr) c.946-211308T>A (n.946-211308T>A)
6	g.44230582T>C	CA364306393	POLR1C,SLC29A1	c.604T>C (p.Ser202Pro) n.1002T>C c.547T>C (p.Ser183Pro) c.291T>C n.793T>C c.841T>C (p.Ser281Pro) c.730T>C (p.Ser244Pro) c.682T>C (p.Ser228Pro) c.679T>C (p.Ser227Pro) c.733T>C (p.Ser245Pro) c.844T>C (p.Ser282Pro) c.946-211308T>C (n.946-211308T>C)
6	g.44230582T>G	CA364306395	POLR1C,SLC29A1	c.604T>G (p.Ser202Ala) n.1002T>G c.547T>G (p.Ser183Ala) c.291T>G n.793T>G c.841T>G (p.Ser281Ala) c.730T>G (p.Ser244Ala) c.682T>G (p.Ser228Ala) c.679T>G (p.Ser227Ala) c.733T>G (p.Ser245Ala) c.844T>G (p.Ser282Ala) c.946-211308T>G (n.946-211308T>G)
6	g.44230583C>A	CA364306398	POLR1C,SLC29A1	c.605C>A (p.Ser202Ter) n.1003C>A c.548C>A (p.Ser183Ter) c.292C>A n.794C>A c.842C>A (p.Ser281Ter) c.731C>A (p.Ser244Ter) c.683C>A (p.Ser228Ter) c.680C>A (p.Ser227Ter) c.734C>A (p.Ser245Ter) c.845C>A (p.Ser282Ter) c.946-211307C>A (n.946-211307C>A)
6	g.44230583C>G	CA364306400	POLR1C,SLC29A1	c.605C>G (p.Ser202Ter) n.1003C>G c.548C>G (p.Ser183Ter) c.292C>G n.794C>G c.842C>G (p.Ser281Ter) c.731C>G (p.Ser244Ter) c.683C>G (p.Ser228Ter) c.680C>G (p.Ser227Ter) c.734C>G (p.Ser245Ter) c.845C>G (p.Ser282Ter) c.946-211307C>G (n.946-211307C>G)
6	g.44230583C>T	CA364306401	POLR1C,SLC29A1	c.605C>T (p.Ser202Leu) n.1003C>T c.548C>T (p.Ser183Leu) c.292C>T n.794C>T c.842C>T (p.Ser281Leu) c.731C>T (p.Ser244Leu) c.683C>T (p.Ser228Leu) c.680C>T (p.Ser227Leu) c.734C>T (p.Ser245Leu) c.845C>T (p.Ser282Leu) c.946-211307C>T (n.946-211307C>T)	gnomAD v4
6	g.44230584A>C	CA450308485	POLR1C,SLC29A1	c.606A>C (p.Ser202=) n.1004A>C c.549A>C (p.Ser183=) c.293A>C n.795A>C c.843A>C (p.Ser281=) c.732A>C (p.Ser244=) c.684A>C (p.Ser228=) c.681A>C (p.Ser227=) c.735A>C (p.Ser245=) c.846A>C (p.Ser282=) c.946-211306A>C (n.946-211306A>C)
6	g.44230584A>G	CA450308486	POLR1C,SLC29A1	c.606A>G (p.Ser202=) n.1004A>G c.549A>G (p.Ser183=) c.293A>G n.795A>G c.843A>G (p.Ser281=) c.732A>G (p.Ser244=) c.684A>G (p.Ser228=) c.681A>G (p.Ser227=) c.735A>G (p.Ser245=) c.846A>G (p.Ser282=) c.946-211306A>G (n.946-211306A>G)
6	g.44230584A>T	CA450308488	POLR1C,SLC29A1	c.606A>T (p.Ser202=) n.1004A>T c.549A>T (p.Ser183=) c.293A>T n.795A>T c.843A>T (p.Ser281=) c.732A>T (p.Ser244=) c.684A>T (p.Ser228=) c.681A>T (p.Ser227=) c.735A>T (p.Ser245=) c.846A>T (p.Ser282=) c.946-211306A>T (n.946-211306A>T)
6	g.44230585G>A	CA364306404	POLR1C,SLC29A1	c.607G>A (p.Glu203Lys) n.1005G>A c.550G>A (p.Glu184Lys) c.294G>A n.796G>A c.844G>A (p.Glu282Lys) c.733G>A (p.Glu245Lys) c.685G>A (p.Glu229Lys) c.682G>A (p.Glu228Lys) c.736G>A (p.Glu246Lys) c.847G>A (p.Glu283Lys) c.946-211305G>A (n.946-211305G>A)
6	g.44230585G>C	CA3831622	POLR1C,SLC29A1	c.607G>C (p.Glu203Gln) n.1005G>C c.550G>C (p.Glu184Gln) c.294G>C n.796G>C c.844G>C (p.Glu282Gln) c.733G>C (p.Glu245Gln) c.685G>C (p.Glu229Gln) c.682G>C (p.Glu228Gln) c.736G>C (p.Glu246Gln) c.847G>C (p.Glu283Gln) c.946-211305G>C (n.946-211305G>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.44230585G=	CA1624908432	POLR1C,SLC29A1	c.607G= (p.Glu203=) n.1005G= c.550G= (p.Glu184=) c.294G= n.796G= c.844G= (p.Glu282=) c.733G= (p.Glu245=) c.685G= (p.Glu229=) c.682G= (p.Glu228=) c.736G= (p.Glu246=) c.847G= (p.Glu283=) c.946-211305G= (n.946-211305G=)
6	g.44230585G>T	CA364306406	POLR1C,SLC29A1	c.607G>T (p.Glu203Ter) n.1005G>T c.550G>T (p.Glu184Ter) c.294G>T n.796G>T c.844G>T (p.Glu282Ter) c.733G>T (p.Glu245Ter) c.685G>T (p.Glu229Ter) c.682G>T (p.Glu228Ter) c.736G>T (p.Glu246Ter) c.847G>T (p.Glu283Ter) c.946-211305G>T (n.946-211305G>T)
6	g.44230586A>C	CA364306410	POLR1C,SLC29A1	c.608A>C (p.Glu203Ala) n.1006A>C c.551A>C (p.Glu184Ala) c.295A>C n.797A>C c.845A>C (p.Glu282Ala) c.734A>C (p.Glu245Ala) c.686A>C (p.Glu229Ala) c.683A>C (p.Glu228Ala) c.737A>C (p.Glu246Ala) c.848A>C (p.Glu283Ala) c.946-211304A>C (n.946-211304A>C)
6	g.44230586A>G	CA364306412	POLR1C,SLC29A1	c.608A>G (p.Glu203Gly) n.1006A>G c.551A>G (p.Glu184Gly) c.295A>G n.797A>G c.845A>G (p.Glu282Gly) c.734A>G (p.Glu245Gly) c.686A>G (p.Glu229Gly) c.683A>G (p.Glu228Gly) c.737A>G (p.Glu246Gly) c.848A>G (p.Glu283Gly) c.946-211304A>G (n.946-211304A>G)
6	g.44230586A>T	CA364306414	POLR1C,SLC29A1	c.608A>T (p.Glu203Val) n.1006A>T c.551A>T (p.Glu184Val) c.295A>T n.797A>T c.845A>T (p.Glu282Val) c.734A>T (p.Glu245Val) c.686A>T (p.Glu229Val) c.683A>T (p.Glu228Val) c.737A>T (p.Glu246Val) c.848A>T (p.Glu283Val) c.946-211304A>T (n.946-211304A>T)
6	g.44230587A>C	CA364306416	POLR1C,SLC29A1	c.609A>C (p.Glu203Asp) n.1007A>C c.552A>C (p.Glu184Asp) c.296A>C n.798A>C c.846A>C (p.Glu282Asp) c.735A>C (p.Glu245Asp) c.687A>C (p.Glu229Asp) c.684A>C (p.Glu228Asp) c.738A>C (p.Glu246Asp) c.849A>C (p.Glu283Asp) c.946-211303A>C (n.946-211303A>C)
6	g.44230587A>G	CA450308490	POLR1C,SLC29A1	c.609A>G (p.Glu203=) n.1007A>G c.552A>G (p.Glu184=) c.296A>G n.798A>G c.846A>G (p.Glu282=) c.735A>G (p.Glu245=) c.687A>G (p.Glu229=) c.684A>G (p.Glu228=) c.738A>G (p.Glu246=) c.849A>G (p.Glu283=) c.946-211303A>G (n.946-211303A>G)
6	g.44230587A>T	CA364306418	POLR1C,SLC29A1	c.609A>T (p.Glu203Asp) n.1007A>T c.552A>T (p.Glu184Asp) c.296A>T n.798A>T c.846A>T (p.Glu282Asp) c.735A>T (p.Glu245Asp) c.687A>T (p.Glu229Asp) c.684A>T (p.Glu228Asp) c.738A>T (p.Glu246Asp) c.849A>T (p.Glu283Asp) c.946-211303A>T (n.946-211303A>T)
6	g.44230588A=	CA1624908436	POLR1C,SLC29A1	c.610A= (p.Ser204=) n.1008A= c.553A= (p.Ser185=) c.297A= n.799A= c.847A= (p.Ser283=) c.736A= (p.Ser246=) c.688A= (p.Ser230=) c.685A= (p.Ser229=) c.739A= (p.Ser247=) c.850A= (p.Ser284=) c.946-211302A= (n.946-211302A=)
6	g.44230588A>C	CA364306421	POLR1C,SLC29A1	c.610A>C (p.Ser204Arg) n.1008A>C c.553A>C (p.Ser185Arg) c.297A>C n.799A>C c.847A>C (p.Ser283Arg) c.736A>C (p.Ser246Arg) c.688A>C (p.Ser230Arg) c.685A>C (p.Ser229Arg) c.739A>C (p.Ser247Arg) c.850A>C (p.Ser284Arg) c.946-211302A>C (n.946-211302A>C)
6	g.44230588A>G	CA364306423	POLR1C,SLC29A1	c.610A>G (p.Ser204Gly) n.1008A>G c.553A>G (p.Ser185Gly) c.297A>G n.799A>G c.847A>G (p.Ser283Gly) c.736A>G (p.Ser246Gly) c.688A>G (p.Ser230Gly) c.685A>G (p.Ser229Gly) c.739A>G (p.Ser247Gly) c.850A>G (p.Ser284Gly) c.946-211302A>G (n.946-211302A>G)	dbSNP
6	g.44230588A>T	CA364306425	POLR1C,SLC29A1	c.610A>T (p.Ser204Cys) n.1008A>T c.553A>T (p.Ser185Cys) c.297A>T n.799A>T c.847A>T (p.Ser283Cys) c.736A>T (p.Ser246Cys) c.688A>T (p.Ser230Cys) c.685A>T (p.Ser229Cys) c.739A>T (p.Ser247Cys) c.850A>T (p.Ser284Cys) c.946-211302A>T (n.946-211302A>T)
6	g.44230589G>A	CA3831623	POLR1C,SLC29A1	c.611G>A (p.Ser204Asn) n.1009G>A c.554G>A (p.Ser185Asn) c.298G>A n.800G>A c.848G>A (p.Ser283Asn) c.737G>A (p.Ser246Asn) c.689G>A (p.Ser230Asn) c.686G>A (p.Ser229Asn) c.740G>A (p.Ser247Asn) c.851G>A (p.Ser284Asn) c.946-211301G>A (n.946-211301G>A)	dbSNP ExAC gnomAD v2
6	g.44230589G>C	CA364306428	POLR1C,SLC29A1	c.611G>C (p.Ser204Thr) n.1009G>C c.554G>C (p.Ser185Thr) c.298G>C n.800G>C c.848G>C (p.Ser283Thr) c.737G>C (p.Ser246Thr) c.689G>C (p.Ser230Thr) c.686G>C (p.Ser229Thr) c.740G>C (p.Ser247Thr) c.851G>C (p.Ser284Thr) c.946-211301G>C (n.946-211301G>C)
6	g.44230589G=	CA1624908439	POLR1C,SLC29A1	c.611G= (p.Ser204=) n.1009G= c.554G= (p.Ser185=) c.298G= n.800G= c.848G= (p.Ser283=) c.737G= (p.Ser246=) c.689G= (p.Ser230=) c.686G= (p.Ser229=) c.740G= (p.Ser247=) c.851G= (p.Ser284=) c.946-211301G= (n.946-211301G=)
6	g.44230589G>T	CA364306431	POLR1C,SLC29A1	c.611G>T (p.Ser204Ile) n.1009G>T c.554G>T (p.Ser185Ile) c.298G>T n.800G>T c.848G>T (p.Ser283Ile) c.737G>T (p.Ser246Ile) c.689G>T (p.Ser230Ile) c.686G>T (p.Ser229Ile) c.740G>T (p.Ser247Ile) c.851G>T (p.Ser284Ile) c.946-211301G>T (n.946-211301G>T)
6	g.44230590T>A	CA364306434	POLR1C,SLC29A1	c.612T>A (p.Ser204Arg) n.1010T>A c.555T>A (p.Ser185Arg) c.299T>A n.801T>A c.849T>A (p.Ser283Arg) c.738T>A (p.Ser246Arg) c.690T>A (p.Ser230Arg) c.687T>A (p.Ser229Arg) c.741T>A (p.Ser247Arg) c.852T>A (p.Ser284Arg) c.946-211300T>A (n.946-211300T>A)
6	g.44230590T>C	CA450308494	POLR1C,SLC29A1	c.612T>C (p.Ser204=) n.1010T>C c.555T>C (p.Ser185=) c.299T>C n.801T>C c.849T>C (p.Ser283=) c.738T>C (p.Ser246=) c.690T>C (p.Ser230=) c.687T>C (p.Ser229=) c.741T>C (p.Ser247=) c.852T>C (p.Ser284=) c.946-211300T>C (n.946-211300T>C)	dbSNP
6	g.44230590T>G	CA364306436	POLR1C,SLC29A1	c.612T>G (p.Ser204Arg) n.1010T>G c.555T>G (p.Ser185Arg) c.299T>G n.801T>G c.849T>G (p.Ser283Arg) c.738T>G (p.Ser246Arg) c.690T>G (p.Ser230Arg) c.687T>G (p.Ser229Arg) c.741T>G (p.Ser247Arg) c.852T>G (p.Ser284Arg) c.946-211300T>G (n.946-211300T>G)
6	g.44230590T=	CA1624908443	POLR1C,SLC29A1	c.612T= (p.Ser204=) n.1010T= c.555T= (p.Ser185=) c.299T= n.801T= c.849T= (p.Ser283=) c.738T= (p.Ser246=) c.690T= (p.Ser230=) c.687T= (p.Ser229=) c.741T= (p.Ser247=) c.852T= (p.Ser284=) c.946-211300T= (n.946-211300T=)
6	g.44230591G>A	CA364306439	POLR1C,SLC29A1	c.613G>A (p.Ala205Thr) n.1011G>A c.556G>A (p.Ala186Thr) c.300G>A n.802G>A c.850G>A (p.Ala284Thr) c.739G>A (p.Ala247Thr) c.691G>A (p.Ala231Thr) c.688G>A (p.Ala230Thr) c.742G>A (p.Ala248Thr) c.853G>A (p.Ala285Thr) c.946-211299G>A (n.946-211299G>A)
6	g.44230591G>C	CA364306443	POLR1C,SLC29A1	c.613G>C (p.Ala205Pro) n.1011G>C c.556G>C (p.Ala186Pro) c.300G>C n.802G>C c.850G>C (p.Ala284Pro) c.739G>C (p.Ala247Pro) c.691G>C (p.Ala231Pro) c.688G>C (p.Ala230Pro) c.742G>C (p.Ala248Pro) c.853G>C (p.Ala285Pro) c.946-211299G>C (n.946-211299G>C)
6	g.44230591G=	CA1624908446	POLR1C,SLC29A1	c.613G= (p.Ala205=) n.1011G= c.556G= (p.Ala186=) c.300G= n.802G= c.850G= (p.Ala284=) c.739G= (p.Ala247=) c.691G= (p.Ala231=) c.688G= (p.Ala230=) c.742G= (p.Ala248=) c.853G= (p.Ala285=) c.946-211299G= (n.946-211299G=)
6	g.44230591G>T	CA138375330	POLR1C,SLC29A1	c.613G>T (p.Ala205Ser) n.1011G>T c.556G>T (p.Ala186Ser) c.300G>T n.802G>T c.850G>T (p.Ala284Ser) c.739G>T (p.Ala247Ser) c.691G>T (p.Ala231Ser) c.688G>T (p.Ala230Ser) c.742G>T (p.Ala248Ser) c.853G>T (p.Ala285Ser) c.946-211299G>T (n.946-211299G>T)	dbSNP gnomAD v2 gnomAD v4
6	g.44230592C>A	CA364306446	POLR1C,SLC29A1	c.614C>A (p.Ala205Asp) n.1012C>A c.557C>A (p.Ala186Asp) c.301C>A n.803C>A c.851C>A (p.Ala284Asp) c.740C>A (p.Ala247Asp) c.692C>A (p.Ala231Asp) c.689C>A (p.Ala230Asp) c.743C>A (p.Ala248Asp) c.854C>A (p.Ala285Asp) c.946-211298C>A (n.946-211298C>A)
6	g.44230592C=	CA1624908448	POLR1C,SLC29A1	c.614C= (p.Ala205=) n.1012C= c.557C= (p.Ala186=) c.301C= n.803C= c.851C= (p.Ala284=) c.740C= (p.Ala247=) c.692C= (p.Ala231=) c.689C= (p.Ala230=) c.743C= (p.Ala248=) c.854C= (p.Ala285=) c.946-211298C= (n.946-211298C=)
6	g.44230592C>G	CA364306448	POLR1C,SLC29A1	c.614C>G (p.Ala205Gly) n.1012C>G c.557C>G (p.Ala186Gly) c.301C>G n.803C>G c.851C>G (p.Ala284Gly) c.740C>G (p.Ala247Gly) c.692C>G (p.Ala231Gly) c.689C>G (p.Ala230Gly) c.743C>G (p.Ala248Gly) c.854C>G (p.Ala285Gly) c.946-211298C>G (n.946-211298C>G)
6	g.44230592C>T	CA364306450	POLR1C,SLC29A1	c.614C>T (p.Ala205Val) n.1012C>T c.557C>T (p.Ala186Val) c.301C>T n.803C>T c.851C>T (p.Ala284Val) c.740C>T (p.Ala247Val) c.692C>T (p.Ala231Val) c.689C>T (p.Ala230Val) c.743C>T (p.Ala248Val) c.854C>T (p.Ala285Val) c.946-211298C>T (n.946-211298C>T)	dbSNP gnomAD v3 gnomAD v4
6	g.44230593C>A	CA450308496	POLR1C,SLC29A1	c.615C>A (p.Ala205=) n.1013C>A c.558C>A (p.Ala186=) c.302C>A n.804C>A c.852C>A (p.Ala284=) c.741C>A (p.Ala247=) c.693C>A (p.Ala231=) c.690C>A (p.Ala230=) c.744C>A (p.Ala248=) c.855C>A (p.Ala285=) c.946-211297C>A (n.946-211297C>A)
6	g.44230593C>G	CA450308498	POLR1C,SLC29A1	c.615C>G (p.Ala205=) n.1013C>G c.558C>G (p.Ala186=) c.302C>G n.804C>G c.852C>G (p.Ala284=) c.741C>G (p.Ala247=) c.693C>G (p.Ala231=) c.690C>G (p.Ala230=) c.744C>G (p.Ala248=) c.855C>G (p.Ala285=) c.946-211297C>G (n.946-211297C>G)
6	g.44230593C>T	CA450308497	POLR1C,SLC29A1	c.615C>T (p.Ala205=) n.1013C>T c.558C>T (p.Ala186=) c.302C>T n.804C>T c.852C>T (p.Ala284=) c.741C>T (p.Ala247=) c.693C>T (p.Ala231=) c.690C>T (p.Ala230=) c.744C>T (p.Ala248=) c.855C>T (p.Ala285=) c.946-211297C>T (n.946-211297C>T)	gnomAD v4
6	g.44230594T>A	CA364306454	POLR1C,SLC29A1	c.616T>A (p.Phe206Ile) n.1014T>A c.559T>A (p.Phe187Ile) c.303T>A n.805T>A c.853T>A (p.Phe285Ile) c.742T>A (p.Phe248Ile) c.694T>A (p.Phe232Ile) c.691T>A (p.Phe231Ile) c.745T>A (p.Phe249Ile) c.856T>A (p.Phe286Ile) c.946-211296T>A (n.946-211296T>A)
6	g.44230594T>C	CA364306457	POLR1C,SLC29A1	c.616T>C (p.Phe206Leu) n.1014T>C c.559T>C (p.Phe187Leu) c.303T>C n.805T>C c.853T>C (p.Phe285Leu) c.742T>C (p.Phe248Leu) c.694T>C (p.Phe232Leu) c.691T>C (p.Phe231Leu) c.745T>C (p.Phe249Leu) c.856T>C (p.Phe286Leu) c.946-211296T>C (n.946-211296T>C)
6	g.44230594T>G	CA364306460	POLR1C,SLC29A1	c.616T>G (p.Phe206Val) n.1014T>G c.559T>G (p.Phe187Val) c.303T>G n.805T>G c.853T>G (p.Phe285Val) c.742T>G (p.Phe248Val) c.694T>G (p.Phe232Val) c.691T>G (p.Phe231Val) c.745T>G (p.Phe249Val) c.856T>G (p.Phe286Val) c.946-211296T>G (n.946-211296T>G)
6	g.44230595T>A	CA364306463	POLR1C,SLC29A1	c.617T>A (p.Phe206Tyr) n.1015T>A c.560T>A (p.Phe187Tyr) c.304T>A n.806T>A c.854T>A (p.Phe285Tyr) c.743T>A (p.Phe248Tyr) c.695T>A (p.Phe232Tyr) c.692T>A (p.Phe231Tyr) c.746T>A (p.Phe249Tyr) c.857T>A (p.Phe286Tyr) c.946-211295T>A (n.946-211295T>A)
6	g.44230595T>C	CA364306467	POLR1C,SLC29A1	c.617T>C (p.Phe206Ser) n.1015T>C c.560T>C (p.Phe187Ser) c.304T>C n.806T>C c.854T>C (p.Phe285Ser) c.743T>C (p.Phe248Ser) c.695T>C (p.Phe232Ser) c.692T>C (p.Phe231Ser) c.746T>C (p.Phe249Ser) c.857T>C (p.Phe286Ser) c.946-211295T>C (n.946-211295T>C)
6	g.44230595T>G	CA364306469	POLR1C,SLC29A1	c.617T>G (p.Phe206Cys) n.1015T>G c.560T>G (p.Phe187Cys) c.304T>G n.806T>G c.854T>G (p.Phe285Cys) c.743T>G (p.Phe248Cys) c.695T>G (p.Phe232Cys) c.692T>G (p.Phe231Cys) c.746T>G (p.Phe249Cys) c.857T>G (p.Phe286Cys) c.946-211295T>G (n.946-211295T>G)
6	g.44230596C>A	CA364306473	POLR1C,SLC29A1	c.618C>A (p.Phe206Leu) n.1016C>A c.561C>A (p.Phe187Leu) c.305C>A n.807C>A c.855C>A (p.Phe285Leu) c.744C>A (p.Phe248Leu) c.696C>A (p.Phe232Leu) c.693C>A (p.Phe231Leu) c.747C>A (p.Phe249Leu) c.858C>A (p.Phe286Leu) c.946-211294C>A (n.946-211294C>A)
6	g.44230596C=	CA1624908452	POLR1C,SLC29A1	c.618C= (p.Phe206=) n.1016C= c.561C= (p.Phe187=) c.305C= n.807C= c.855C= (p.Phe285=) c.744C= (p.Phe248=) c.696C= (p.Phe232=) c.693C= (p.Phe231=) c.747C= (p.Phe249=) c.858C= (p.Phe286=) c.946-211294C= (n.946-211294C=)
6	g.44230596C>G	CA364306477	POLR1C,SLC29A1	c.618C>G (p.Phe206Leu) n.1016C>G c.561C>G (p.Phe187Leu) c.305C>G n.807C>G c.855C>G (p.Phe285Leu) c.744C>G (p.Phe248Leu) c.696C>G (p.Phe232Leu) c.693C>G (p.Phe231Leu) c.747C>G (p.Phe249Leu) c.858C>G (p.Phe286Leu) c.946-211294C>G (n.946-211294C>G)
6	g.44230596C>T	CA3831624	POLR1C,SLC29A1	c.618C>T (p.Phe206=) n.1016C>T c.561C>T (p.Phe187=) c.305C>T n.807C>T c.855C>T (p.Phe285=) c.744C>T (p.Phe248=) c.696C>T (p.Phe232=) c.693C>T (p.Phe231=) c.747C>T (p.Phe249=) c.858C>T (p.Phe286=) c.946-211294C>T (n.946-211294C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.44230597G>A	CA138375334	POLR1C,SLC29A1	c.619G>A (p.Gly207Ser) n.1017G>A c.562G>A (p.Gly188Ser) c.306G>A n.808G>A c.856G>A (p.Gly286Ser) c.745G>A (p.Gly249Ser) c.697G>A (p.Gly233Ser) c.694G>A (p.Gly232Ser) c.748G>A (p.Gly250Ser) c.859G>A (p.Gly287Ser) c.946-211293G>A (n.946-211293G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.44230597G>C	CA364306484	POLR1C,SLC29A1	c.619G>C (p.Gly207Arg) n.1017G>C c.562G>C (p.Gly188Arg) c.306G>C n.808G>C c.856G>C (p.Gly286Arg) c.745G>C (p.Gly249Arg) c.697G>C (p.Gly233Arg) c.694G>C (p.Gly232Arg) c.748G>C (p.Gly250Arg) c.859G>C (p.Gly287Arg) c.946-211293G>C (n.946-211293G>C)	dbSNP gnomAD v2 gnomAD v4
6	g.44230597G=	CA1624908459	POLR1C,SLC29A1	c.619G= (p.Gly207=) n.1017G= c.562G= (p.Gly188=) c.306G= n.808G= c.856G= (p.Gly286=) c.745G= (p.Gly249=) c.697G= (p.Gly233=) c.694G= (p.Gly232=) c.748G= (p.Gly250=) c.859G= (p.Gly287=) c.946-211293G= (n.946-211293G=)
6	g.44230597G>T	CA364306487	POLR1C,SLC29A1	c.619G>T (p.Gly207Cys) n.1017G>T c.562G>T (p.Gly188Cys) c.306G>T n.808G>T c.856G>T (p.Gly286Cys) c.745G>T (p.Gly249Cys) c.697G>T (p.Gly233Cys) c.694G>T (p.Gly232Cys) c.748G>T (p.Gly250Cys) c.859G>T (p.Gly287Cys) c.946-211293G>T (n.946-211293G>T)
6	g.44230598G>A	CA3831625	POLR1C,SLC29A1	c.620G>A (p.Gly207Asp) n.1018G>A c.563G>A (p.Gly188Asp) c.307G>A n.809G>A c.857G>A (p.Gly286Asp) c.746G>A (p.Gly249Asp) c.698G>A (p.Gly233Asp) c.695G>A (p.Gly232Asp) c.749G>A (p.Gly250Asp) c.860G>A (p.Gly287Asp) c.946-211292G>A (n.946-211292G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.44230598G>C	CA364306488	POLR1C,SLC29A1	c.620G>C (p.Gly207Ala) n.1018G>C c.563G>C (p.Gly188Ala) c.307G>C n.809G>C c.857G>C (p.Gly286Ala) c.746G>C (p.Gly249Ala) c.698G>C (p.Gly233Ala) c.695G>C (p.Gly232Ala) c.749G>C (p.Gly250Ala) c.860G>C (p.Gly287Ala) c.946-211292G>C (n.946-211292G>C)
6	g.44230598G=	CA1624908464	POLR1C,SLC29A1	c.620G= (p.Gly207=) n.1018G= c.563G= (p.Gly188=) c.307G= n.809G= c.857G= (p.Gly286=) c.746G= (p.Gly249=) c.698G= (p.Gly233=) c.695G= (p.Gly232=) c.749G= (p.Gly250=) c.860G= (p.Gly287=) c.946-211292G= (n.946-211292G=)
6	g.44230598G>T	CA364306489	POLR1C,SLC29A1	c.620G>T (p.Gly207Val) n.1018G>T c.563G>T (p.Gly188Val) c.307G>T n.809G>T c.857G>T (p.Gly286Val) c.746G>T (p.Gly249Val) c.698G>T (p.Gly233Val) c.695G>T (p.Gly232Val) c.749G>T (p.Gly250Val) c.860G>T (p.Gly287Val) c.946-211292G>T (n.946-211292G>T)
6	g.44230599C>A	CA450308502	POLR1C,SLC29A1	c.621C>A (p.Gly207=) n.1019C>A c.564C>A (p.Gly188=) c.308C>A n.810C>A c.858C>A (p.Gly286=) c.747C>A (p.Gly249=) c.699C>A (p.Gly233=) c.696C>A (p.Gly232=) c.750C>A (p.Gly250=) c.861C>A (p.Gly287=) c.946-211291C>A (n.946-211291C>A)
6	g.44230599C>G	CA450308503	POLR1C,SLC29A1	c.621C>G (p.Gly207=) n.1019C>G c.564C>G (p.Gly188=) c.308C>G n.810C>G c.858C>G (p.Gly286=) c.747C>G (p.Gly249=) c.699C>G (p.Gly233=) c.696C>G (p.Gly232=) c.750C>G (p.Gly250=) c.861C>G (p.Gly287=) c.946-211291C>G (n.946-211291C>G)
6	g.44230599C>T	CA450308504	POLR1C,SLC29A1	c.621C>T (p.Gly207=) n.1019C>T c.564C>T (p.Gly188=) c.308C>T n.810C>T c.858C>T (p.Gly286=) c.747C>T (p.Gly249=) c.699C>T (p.Gly233=) c.696C>T (p.Gly232=) c.750C>T (p.Gly250=) c.861C>T (p.Gly287=) c.946-211291C>T (n.946-211291C>T)
6	g.44230600T>A	CA364306490	POLR1C,SLC29A1	c.622T>A (p.Tyr208Asn) n.1020T>A c.565T>A (p.Tyr189Asn) c.309T>A n.811T>A c.859T>A (p.Tyr287Asn) c.748T>A (p.Tyr250Asn) c.700T>A (p.Tyr234Asn) c.697T>A (p.Tyr233Asn) c.751T>A (p.Tyr251Asn) c.862T>A (p.Tyr288Asn) c.946-211290T>A (n.946-211290T>A)
6	g.44230600T>C	CA364306492	POLR1C,SLC29A1	c.622T>C (p.Tyr208His) n.1020T>C c.565T>C (p.Tyr189His) c.309T>C n.811T>C c.859T>C (p.Tyr287His) c.748T>C (p.Tyr250His) c.700T>C (p.Tyr234His) c.697T>C (p.Tyr233His) c.751T>C (p.Tyr251His) c.862T>C (p.Tyr288His) c.946-211290T>C (n.946-211290T>C)
6	g.44230600T>G	CA364306494	POLR1C,SLC29A1	c.622T>G (p.Tyr208Asp) n.1020T>G c.565T>G (p.Tyr189Asp) c.309T>G n.811T>G c.859T>G (p.Tyr287Asp) c.748T>G (p.Tyr250Asp) c.700T>G (p.Tyr234Asp) c.697T>G (p.Tyr233Asp) c.751T>G (p.Tyr251Asp) c.862T>G (p.Tyr288Asp) c.946-211290T>G (n.946-211290T>G)
6	g.44230601A>C	CA364306499	POLR1C,SLC29A1	c.623A>C (p.Tyr208Ser) n.1021A>C c.566A>C (p.Tyr189Ser) c.310A>C n.812A>C c.860A>C (p.Tyr287Ser) c.749A>C (p.Tyr250Ser) c.701A>C (p.Tyr234Ser) c.698A>C (p.Tyr233Ser) c.752A>C (p.Tyr251Ser) c.863A>C (p.Tyr288Ser) c.946-211289A>C (n.946-211289A>C)
6	g.44230601A>G	CA364306502	POLR1C,SLC29A1	c.623A>G (p.Tyr208Cys) n.1021A>G c.566A>G (p.Tyr189Cys) c.310A>G n.812A>G c.860A>G (p.Tyr287Cys) c.749A>G (p.Tyr250Cys) c.701A>G (p.Tyr234Cys) c.698A>G (p.Tyr233Cys) c.752A>G (p.Tyr251Cys) c.863A>G (p.Tyr288Cys) c.946-211289A>G (n.946-211289A>G)
6	g.44230601A>T	CA364306505	POLR1C,SLC29A1	c.623A>T (p.Tyr208Phe) n.1021A>T c.566A>T (p.Tyr189Phe) c.310A>T n.812A>T c.860A>T (p.Tyr287Phe) c.749A>T (p.Tyr250Phe) c.701A>T (p.Tyr234Phe) c.698A>T (p.Tyr233Phe) c.752A>T (p.Tyr251Phe) c.863A>T (p.Tyr288Phe) c.946-211289A>T (n.946-211289A>T)
6	g.44230602C>A	CA364306508	POLR1C,SLC29A1	c.624C>A (p.Tyr208Ter) n.1022C>A c.567C>A (p.Tyr189Ter) c.311C>A n.813C>A c.861C>A (p.Tyr287Ter) c.750C>A (p.Tyr250Ter) c.702C>A (p.Tyr234Ter) c.699C>A (p.Tyr233Ter) c.753C>A (p.Tyr251Ter) c.864C>A (p.Tyr288Ter) c.946-211288C>A (n.946-211288C>A)	dbSNP
6	g.44230602C=	CA1624908468	POLR1C,SLC29A1	c.624C= (p.Tyr208=) n.1022C= c.567C= (p.Tyr189=) c.311C= n.813C= c.861C= (p.Tyr287=) c.750C= (p.Tyr250=) c.702C= (p.Tyr234=) c.699C= (p.Tyr233=) c.753C= (p.Tyr251=) c.864C= (p.Tyr288=) c.946-211288C= (n.946-211288C=)
6	g.44230602C>G	CA364306511	POLR1C,SLC29A1	c.624C>G (p.Tyr208Ter) n.1022C>G c.567C>G (p.Tyr189Ter) c.311C>G n.813C>G c.861C>G (p.Tyr287Ter) c.750C>G (p.Tyr250Ter) c.702C>G (p.Tyr234Ter) c.699C>G (p.Tyr233Ter) c.753C>G (p.Tyr251Ter) c.864C>G (p.Tyr288Ter) c.946-211288C>G (n.946-211288C>G)	gnomAD v4
6	g.44230602C>T	CA450308506	POLR1C,SLC29A1	c.624C>T (p.Tyr208=) n.1022C>T c.567C>T (p.Tyr189=) c.311C>T n.813C>T c.861C>T (p.Tyr287=) c.750C>T (p.Tyr250=) c.702C>T (p.Tyr234=) c.699C>T (p.Tyr233=) c.753C>T (p.Tyr251=) c.864C>T (p.Tyr288=) c.946-211288C>T (n.946-211288C>T)	dbSNP
6	g.44230603T>A	CA364306520	POLR1C,SLC29A1	c.625T>A (p.Phe209Ile) n.1023T>A c.568T>A (p.Phe190Ile) c.312T>A n.814T>A c.862T>A (p.Phe288Ile) c.751T>A (p.Phe251Ile) c.703T>A (p.Phe235Ile) c.700T>A (p.Phe234Ile) c.754T>A (p.Phe252Ile) c.865T>A (p.Phe289Ile) c.946-211287T>A (n.946-211287T>A)
6	g.44230603T>C	CA364306518	POLR1C,SLC29A1	c.625T>C (p.Phe209Leu) n.1023T>C c.568T>C (p.Phe190Leu) c.312T>C n.814T>C c.862T>C (p.Phe288Leu) c.751T>C (p.Phe251Leu) c.703T>C (p.Phe235Leu) c.700T>C (p.Phe234Leu) c.754T>C (p.Phe252Leu) c.865T>C (p.Phe289Leu) c.946-211287T>C (n.946-211287T>C)
6	g.44230603T>G	CA364306515	POLR1C,SLC29A1	c.625T>G (p.Phe209Val) n.1023T>G c.568T>G (p.Phe190Val) c.312T>G n.814T>G c.862T>G (p.Phe288Val) c.751T>G (p.Phe251Val) c.703T>G (p.Phe235Val) c.700T>G (p.Phe234Val) c.754T>G (p.Phe252Val) c.865T>G (p.Phe289Val) c.946-211287T>G (n.946-211287T>G)
6	g.44230605del	CA2678935214	POLR1C,SLC29A1	c.627del (p.Phe209LeufsTer10) c.627del (p.Phe209LeufsTer?) n.1025del c.570del (p.Phe190LeufsTer10) c.314del n.816del c.864del (p.Phe288LeufsTer10) c.753del (p.Phe251LeufsTer10) c.705del (p.Phe235LeufsTer10) c.702del (p.Phe234LeufsTer10) c.756del (p.Phe252LeufsTer10) c.867del (p.Phe289LeufsTer10) c.946-211285del (n.946-211285del)	gnomAD v4
6	g.44230604T>A	CA364306524	POLR1C,SLC29A1	c.626T>A (p.Phe209Tyr) n.1024T>A c.569T>A (p.Phe190Tyr) c.313T>A n.815T>A c.863T>A (p.Phe288Tyr) c.752T>A (p.Phe251Tyr) c.704T>A (p.Phe235Tyr) c.701T>A (p.Phe234Tyr) c.755T>A (p.Phe252Tyr) c.866T>A (p.Phe289Tyr) c.946-211286T>A (n.946-211286T>A)
6	g.44230604T>C	CA364306526	POLR1C,SLC29A1	c.626T>C (p.Phe209Ser) n.1024T>C c.569T>C (p.Phe190Ser) c.313T>C n.815T>C c.863T>C (p.Phe288Ser) c.752T>C (p.Phe251Ser) c.704T>C (p.Phe235Ser) c.701T>C (p.Phe234Ser) c.755T>C (p.Phe252Ser) c.866T>C (p.Phe289Ser) c.946-211286T>C (n.946-211286T>C)
6	g.44230604T>G	CA364306528	POLR1C,SLC29A1	c.626T>G (p.Phe209Cys) n.1024T>G c.569T>G (p.Phe190Cys) c.313T>G n.815T>G c.863T>G (p.Phe288Cys) c.752T>G (p.Phe251Cys) c.704T>G (p.Phe235Cys) c.701T>G (p.Phe234Cys) c.755T>G (p.Phe252Cys) c.866T>G (p.Phe289Cys) c.946-211286T>G (n.946-211286T>G)
6	g.44230605T>A	CA3831626	POLR1C,SLC29A1	c.627T>A (p.Phe209Leu) n.1025T>A c.570T>A (p.Phe190Leu) c.314T>A n.816T>A c.864T>A (p.Phe288Leu) c.753T>A (p.Phe251Leu) c.705T>A (p.Phe235Leu) c.702T>A (p.Phe234Leu) c.756T>A (p.Phe252Leu) c.867T>A (p.Phe289Leu) c.946-211285T>A (n.946-211285T>A)	dbSNP ExAC gnomAD v2
6	g.44230605T>C	CA450308552	POLR1C,SLC29A1	c.627T>C (p.Phe209=) n.1025T>C c.570T>C (p.Phe190=) c.314T>C n.816T>C c.864T>C (p.Phe288=) c.753T>C (p.Phe251=) c.705T>C (p.Phe235=) c.702T>C (p.Phe234=) c.756T>C (p.Phe252=) c.867T>C (p.Phe289=) c.946-211285T>C (n.946-211285T>C)	dbSNP gnomAD v3 gnomAD v4
6	g.44230605T>G	CA364306533	POLR1C,SLC29A1	c.627T>G (p.Phe209Leu) n.1025T>G c.570T>G (p.Phe190Leu) c.314T>G n.816T>G c.864T>G (p.Phe288Leu) c.753T>G (p.Phe251Leu) c.705T>G (p.Phe235Leu) c.702T>G (p.Phe234Leu) c.756T>G (p.Phe252Leu) c.867T>G (p.Phe289Leu) c.946-211285T>G (n.946-211285T>G)
6	g.44230605T=	CA1624908472	POLR1C,SLC29A1	c.627T= (p.Phe209=) n.1025T= c.570T= (p.Phe190=) c.314T= n.816T= c.864T= (p.Phe288=) c.753T= (p.Phe251=) c.705T= (p.Phe235=) c.702T= (p.Phe234=) c.756T= (p.Phe252=) c.867T= (p.Phe289=) c.946-211285T= (n.946-211285T=)
6	g.44230606A=	CA1624908481	POLR1C,SLC29A1	c.628A= (p.Ile210=) n.1026A= c.571A= (p.Ile191=) c.315A= n.817A= c.865A= (p.Ile289=) c.754A= (p.Ile252=) c.706A= (p.Ile236=) c.703A= (p.Ile235=) c.757A= (p.Ile253=) c.868A= (p.Ile290=) c.946-211284A= (n.946-211284A=)
6	g.44230606A>C	CA364306537	POLR1C,SLC29A1	c.628A>C (p.Ile210Leu) n.1026A>C c.571A>C (p.Ile191Leu) c.315A>C n.817A>C c.865A>C (p.Ile289Leu) c.754A>C (p.Ile252Leu) c.706A>C (p.Ile236Leu) c.703A>C (p.Ile235Leu) c.757A>C (p.Ile253Leu) c.868A>C (p.Ile290Leu) c.946-211284A>C (n.946-211284A>C)
6	g.44230606A>G	CA364306539	POLR1C,SLC29A1	c.628A>G (p.Ile210Val) n.1026A>G c.571A>G (p.Ile191Val) c.315A>G n.817A>G c.865A>G (p.Ile289Val) c.754A>G (p.Ile252Val) c.706A>G (p.Ile236Val) c.703A>G (p.Ile235Val) c.757A>G (p.Ile253Val) c.868A>G (p.Ile290Val) c.946-211284A>G (n.946-211284A>G)	dbSNP gnomAD v2 gnomAD v4
6	g.44230606A>T	CA364306542	POLR1C,SLC29A1	c.628A>T (p.Ile210Phe) n.1026A>T c.571A>T (p.Ile191Phe) c.315A>T n.817A>T c.865A>T (p.Ile289Phe) c.754A>T (p.Ile252Phe) c.706A>T (p.Ile236Phe) c.703A>T (p.Ile235Phe) c.757A>T (p.Ile253Phe) c.868A>T (p.Ile290Phe) c.946-211284A>T (n.946-211284A>T)
6	g.44230607T>A	CA364306547	POLR1C,SLC29A1	c.629T>A (p.Ile210Asn) n.1027T>A c.572T>A (p.Ile191Asn) c.316T>A n.818T>A c.866T>A (p.Ile289Asn) c.755T>A (p.Ile252Asn) c.707T>A (p.Ile236Asn) c.704T>A (p.Ile235Asn) c.758T>A (p.Ile253Asn) c.869T>A (p.Ile290Asn) c.946-211283T>A (n.946-211283T>A)
6	g.44230607T>C	CA364306550	POLR1C,SLC29A1	c.629T>C (p.Ile210Thr) n.1027T>C c.572T>C (p.Ile191Thr) c.316T>C n.818T>C c.866T>C (p.Ile289Thr) c.755T>C (p.Ile252Thr) c.707T>C (p.Ile236Thr) c.704T>C (p.Ile235Thr) c.758T>C (p.Ile253Thr) c.869T>C (p.Ile290Thr) c.946-211283T>C (n.946-211283T>C)
6	g.44230607T>G	CA364306552	POLR1C,SLC29A1	c.629T>G (p.Ile210Ser) n.1027T>G c.572T>G (p.Ile191Ser) c.316T>G n.818T>G c.866T>G (p.Ile289Ser) c.755T>G (p.Ile252Ser) c.707T>G (p.Ile236Ser) c.704T>G (p.Ile235Ser) c.758T>G (p.Ile253Ser) c.869T>G (p.Ile290Ser) c.946-211283T>G (n.946-211283T>G)
6	g.44230608C>A	CA450308553	POLR1C,SLC29A1	c.630C>A (p.Ile210=) n.1028C>A c.573C>A (p.Ile191=) c.317C>A n.819C>A c.867C>A (p.Ile289=) c.756C>A (p.Ile252=) c.708C>A (p.Ile236=) c.705C>A (p.Ile235=) c.759C>A (p.Ile253=) c.870C>A (p.Ile290=) c.946-211282C>A (n.946-211282C>A)
6	g.44230608C>G	CA364306557	POLR1C,SLC29A1	c.630C>G (p.Ile210Met) n.1028C>G c.573C>G (p.Ile191Met) c.317C>G n.819C>G c.867C>G (p.Ile289Met) c.756C>G (p.Ile252Met) c.708C>G (p.Ile236Met) c.705C>G (p.Ile235Met) c.759C>G (p.Ile253Met) c.870C>G (p.Ile290Met) c.946-211282C>G (n.946-211282C>G)
6	g.44230608C>T	CA450308554	POLR1C,SLC29A1	c.630C>T (p.Ile210=) n.1028C>T c.573C>T (p.Ile191=) c.317C>T n.819C>T c.867C>T (p.Ile289=) c.756C>T (p.Ile252=) c.708C>T (p.Ile236=) c.705C>T (p.Ile235=) c.759C>T (p.Ile253=) c.870C>T (p.Ile290=) c.946-211282C>T (n.946-211282C>T)
6	g.44230609A>C	CA364306565	POLR1C,SLC29A1	c.631A>C (p.Thr211Pro) c.631A>C n.1029A>C c.574A>C (p.Thr192Pro) c.318A>C n.820A>C c.868A>C (p.Thr290Pro) c.757A>C (p.Thr253Pro) c.709A>C (p.Thr237Pro) c.706A>C (p.Thr236Pro) c.760A>C (p.Thr254Pro) c.871A>C (p.Thr291Pro) c.946-211281A>C (n.946-211281A>C)
6	g.44230609A>G	CA364306567	POLR1C,SLC29A1	c.631A>G (p.Thr211Ala) c.631A>G n.1029A>G c.574A>G (p.Thr192Ala) c.318A>G n.820A>G c.868A>G (p.Thr290Ala) c.757A>G (p.Thr253Ala) c.709A>G (p.Thr237Ala) c.706A>G (p.Thr236Ala) c.760A>G (p.Thr254Ala) c.871A>G (p.Thr291Ala) c.946-211281A>G (n.946-211281A>G)
6	g.44230609A>T	CA364306562	POLR1C,SLC29A1	c.631A>T (p.Thr211Ser) c.631A>T n.1029A>T c.574A>T (p.Thr192Ser) c.318A>T n.820A>T c.868A>T (p.Thr290Ser) c.757A>T (p.Thr253Ser) c.709A>T (p.Thr237Ser) c.706A>T (p.Thr236Ser) c.760A>T (p.Thr254Ser) c.871A>T (p.Thr291Ser) c.946-211281A>T (n.946-211281A>T)
6	g.44230610C>A	CA364306569	POLR1C,SLC29A1	c.632C>A (p.Thr211Lys) c.632C>A n.1030C>A c.575C>A (p.Thr192Lys) c.319C>A n.821C>A c.869C>A (p.Thr290Lys) c.758C>A (p.Thr253Lys) c.710C>A (p.Thr237Lys) c.707C>A (p.Thr236Lys) c.761C>A (p.Thr254Lys) c.872C>A (p.Thr291Lys) c.946-211280C>A (n.946-211280C>A)
6	g.44230610C=	CA1624908484	POLR1C,SLC29A1	c.632C= (p.Thr211=) c.632C= n.1030C= c.575C= (p.Thr192=) c.319C= n.821C= c.869C= (p.Thr290=) c.758C= (p.Thr253=) c.710C= (p.Thr237=) c.707C= (p.Thr236=) c.761C= (p.Thr254=) c.872C= (p.Thr291=) c.946-211280C= (n.946-211280C=)
6	g.44230610C>G	CA364306571	POLR1C,SLC29A1	c.632C>G (p.Thr211Arg) c.632C>G n.1030C>G c.575C>G (p.Thr192Arg) c.319C>G n.821C>G c.869C>G (p.Thr290Arg) c.758C>G (p.Thr253Arg) c.710C>G (p.Thr237Arg) c.707C>G (p.Thr236Arg) c.761C>G (p.Thr254Arg) c.872C>G (p.Thr291Arg) c.946-211280C>G (n.946-211280C>G)
6	g.44230610C>T	CA364306573	POLR1C,SLC29A1	c.632C>T (p.Thr211Ile) c.632C>T n.1030C>T c.575C>T (p.Thr192Ile) c.319C>T n.821C>T c.869C>T (p.Thr290Ile) c.758C>T (p.Thr253Ile) c.710C>T (p.Thr237Ile) c.707C>T (p.Thr236Ile) c.761C>T (p.Thr254Ile) c.872C>T (p.Thr291Ile) c.946-211280C>T (n.946-211280C>T)	dbSNP gnomAD v4
6	g.44230611A=	CA1624908489	POLR1C,SLC29A1	c.633A= (p.Thr211=) n.1031A= c.576A= (p.Thr192=) c.320A= n.822A= c.870A= (p.Thr290=) c.759A= (p.Thr253=) c.711A= (p.Thr237=) c.708A= (p.Thr236=) c.762A= (p.Thr254=) c.873A= (p.Thr291=) c.946-211279A= (n.946-211279A=)
6	g.44230611A>C	CA450308555	POLR1C,SLC29A1	c.633A>C (p.Thr211=) n.1031A>C c.576A>C (p.Thr192=) c.320A>C n.822A>C c.870A>C (p.Thr290=) c.759A>C (p.Thr253=) c.711A>C (p.Thr237=) c.708A>C (p.Thr236=) c.762A>C (p.Thr254=) c.873A>C (p.Thr291=) c.946-211279A>C (n.946-211279A>C)
6	g.44230611A>G	CA450308556	POLR1C,SLC29A1	c.633A>G (p.Thr211=) n.1031A>G c.576A>G (p.Thr192=) c.320A>G n.822A>G c.870A>G (p.Thr290=) c.759A>G (p.Thr253=) c.711A>G (p.Thr237=) c.708A>G (p.Thr236=) c.762A>G (p.Thr254=) c.873A>G (p.Thr291=) c.946-211279A>G (n.946-211279A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.44230611A>T	CA3831627	POLR1C,SLC29A1	c.633A>T (p.Thr211=) n.1031A>T c.576A>T (p.Thr192=) c.320A>T n.822A>T c.870A>T (p.Thr290=) c.759A>T (p.Thr253=) c.711A>T (p.Thr237=) c.708A>T (p.Thr236=) c.762A>T (p.Thr254=) c.873A>T (p.Thr291=) c.946-211279A>T (n.946-211279A>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.44230612G>A	CA364306585	POLR1C,SLC29A1	c.634G>A (p.Ala212Thr) n.1032G>A c.577G>A (p.Ala193Thr) c.321G>A n.823G>A c.871G>A (p.Ala291Thr) c.760G>A (p.Ala254Thr) c.712G>A (p.Ala238Thr) c.709G>A (p.Ala237Thr) c.763G>A (p.Ala255Thr) c.874G>A (p.Ala292Thr) c.946-211278G>A (n.946-211278G>A)
6	g.44230612G>C	CA364306582	POLR1C,SLC29A1	c.634G>C (p.Ala212Pro) n.1032G>C c.577G>C (p.Ala193Pro) c.321G>C n.823G>C c.871G>C (p.Ala291Pro) c.760G>C (p.Ala254Pro) c.712G>C (p.Ala238Pro) c.709G>C (p.Ala237Pro) c.763G>C (p.Ala255Pro) c.874G>C (p.Ala292Pro) c.946-211278G>C (n.946-211278G>C)
6	g.44230612G>T	CA364306578	POLR1C,SLC29A1	c.634G>T (p.Ala212Ser) n.1032G>T c.577G>T (p.Ala193Ser) c.321G>T n.823G>T c.871G>T (p.Ala291Ser) c.760G>T (p.Ala254Ser) c.712G>T (p.Ala238Ser) c.709G>T (p.Ala237Ser) c.763G>T (p.Ala255Ser) c.874G>T (p.Ala292Ser) c.946-211278G>T (n.946-211278G>T)
6	g.44230613C>A	CA364306588	POLR1C,SLC29A1	c.635C>A (p.Ala212Asp) n.1033C>A c.578C>A (p.Ala193Asp) c.322C>A n.824C>A c.872C>A (p.Ala291Asp) c.761C>A (p.Ala254Asp) c.713C>A (p.Ala238Asp) c.710C>A (p.Ala237Asp) c.764C>A (p.Ala255Asp) c.875C>A (p.Ala292Asp) c.946-211277C>A (n.946-211277C>A)
6	g.44230613C=	CA1624908494	POLR1C,SLC29A1	c.635C= (p.Ala212=) n.1033C= c.578C= (p.Ala193=) c.322C= n.824C= c.872C= (p.Ala291=) c.761C= (p.Ala254=) c.713C= (p.Ala238=) c.710C= (p.Ala237=) c.764C= (p.Ala255=) c.875C= (p.Ala292=) c.946-211277C= (n.946-211277C=)
6	g.44230613C>G	CA3831628	POLR1C,SLC29A1	c.635C>G (p.Ala212Gly) n.1033C>G c.578C>G (p.Ala193Gly) c.322C>G n.824C>G c.872C>G (p.Ala291Gly) c.761C>G (p.Ala254Gly) c.713C>G (p.Ala238Gly) c.710C>G (p.Ala237Gly) c.764C>G (p.Ala255Gly) c.875C>G (p.Ala292Gly) c.946-211277C>G (n.946-211277C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.44230613C>T	CA364306602	POLR1C,SLC29A1	c.635C>T (p.Ala212Val) n.1033C>T c.578C>T (p.Ala193Val) c.322C>T n.824C>T c.872C>T (p.Ala291Val) c.761C>T (p.Ala254Val) c.713C>T (p.Ala238Val) c.710C>T (p.Ala237Val) c.764C>T (p.Ala255Val) c.875C>T (p.Ala292Val) c.946-211277C>T (n.946-211277C>T)
6	g.44230614C>A	CA450308559	POLR1C,SLC29A1	c.636C>A (p.Ala212=) n.1034C>A c.579C>A (p.Ala193=) c.323C>A n.825C>A c.873C>A (p.Ala291=) c.762C>A (p.Ala254=) c.714C>A (p.Ala238=) c.711C>A (p.Ala237=) c.765C>A (p.Ala255=) c.876C>A (p.Ala292=) c.946-211276C>A (n.946-211276C>A)
6	g.44230614C=	CA1624908497	POLR1C,SLC29A1	c.636C= (p.Ala212=) n.1034C= c.579C= (p.Ala193=) c.323C= n.825C= c.873C= (p.Ala291=) c.762C= (p.Ala254=) c.714C= (p.Ala238=) c.711C= (p.Ala237=) c.765C= (p.Ala255=) c.876C= (p.Ala292=) c.946-211276C= (n.946-211276C=)
6	g.44230614C>G	CA450308557	POLR1C,SLC29A1	c.636C>G (p.Ala212=) n.1034C>G c.579C>G (p.Ala193=) c.323C>G n.825C>G c.873C>G (p.Ala291=) c.762C>G (p.Ala254=) c.714C>G (p.Ala238=) c.711C>G (p.Ala237=) c.765C>G (p.Ala255=) c.876C>G (p.Ala292=) c.946-211276C>G (n.946-211276C>G)
6	g.44230614C>T	CA450308558	POLR1C,SLC29A1	c.636C>T (p.Ala212=) n.1034C>T c.579C>T (p.Ala193=) c.323C>T n.825C>T c.873C>T (p.Ala291=) c.762C>T (p.Ala254=) c.714C>T (p.Ala238=) c.711C>T (p.Ala237=) c.765C>T (p.Ala255=) c.876C>T (p.Ala292=) c.946-211276C>T (n.946-211276C>T)	dbSNP
6	g.44230615T>A	CA364306605	POLR1C,SLC29A1	c.637T>A (p.Cys213Ser) n.1035T>A c.580T>A (p.Cys194Ser) c.324T>A n.826T>A c.874T>A (p.Cys292Ser) c.763T>A (p.Cys255Ser) c.715T>A (p.Cys239Ser) c.712T>A (p.Cys238Ser) c.766T>A (p.Cys256Ser) c.877T>A (p.Cys293Ser) c.946-211275T>A (n.946-211275T>A)
6	g.44230615T>C	CA364306615	POLR1C,SLC29A1	c.637T>C (p.Cys213Arg) n.1035T>C c.580T>C (p.Cys194Arg) c.324T>C n.826T>C c.874T>C (p.Cys292Arg) c.763T>C (p.Cys255Arg) c.715T>C (p.Cys239Arg) c.712T>C (p.Cys238Arg) c.766T>C (p.Cys256Arg) c.877T>C (p.Cys293Arg) c.946-211275T>C (n.946-211275T>C)
6	g.44230615T>G	CA364306618	POLR1C,SLC29A1	c.637T>G (p.Cys213Gly) n.1035T>G c.580T>G (p.Cys194Gly) c.324T>G n.826T>G c.874T>G (p.Cys292Gly) c.763T>G (p.Cys255Gly) c.715T>G (p.Cys239Gly) c.712T>G (p.Cys238Gly) c.766T>G (p.Cys256Gly) c.877T>G (p.Cys293Gly) c.946-211275T>G (n.946-211275T>G)
6	g.44230616G>A	CA3831629	POLR1C,SLC29A1	c.638G>A (p.Cys213Tyr) n.1036G>A c.581G>A (p.Cys194Tyr) c.325G>A n.827G>A c.875G>A (p.Cys292Tyr) c.764G>A (p.Cys255Tyr) c.716G>A (p.Cys239Tyr) c.713G>A (p.Cys238Tyr) c.767G>A (p.Cys256Tyr) c.878G>A (p.Cys293Tyr) c.946-211274G>A (n.946-211274G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.44230616G>C	CA364306635	POLR1C,SLC29A1	c.638G>C (p.Cys213Ser) n.1036G>C c.581G>C (p.Cys194Ser) c.325G>C n.827G>C c.875G>C (p.Cys292Ser) c.764G>C (p.Cys255Ser) c.716G>C (p.Cys239Ser) c.713G>C (p.Cys238Ser) c.767G>C (p.Cys256Ser) c.878G>C (p.Cys293Ser) c.946-211274G>C (n.946-211274G>C)
6	g.44230616G=	CA1624908499	POLR1C,SLC29A1	c.638G= (p.Cys213=) n.1036G= c.581G= (p.Cys194=) c.325G= n.827G= c.875G= (p.Cys292=) c.764G= (p.Cys255=) c.716G= (p.Cys239=) c.713G= (p.Cys238=) c.767G= (p.Cys256=) c.878G= (p.Cys293=) c.946-211274G= (n.946-211274G=)
6	g.44230616G>T	CA364306625	POLR1C,SLC29A1	c.638G>T (p.Cys213Phe) n.1036G>T c.581G>T (p.Cys194Phe) c.325G>T n.827G>T c.875G>T (p.Cys292Phe) c.764G>T (p.Cys255Phe) c.716G>T (p.Cys239Phe) c.713G>T (p.Cys238Phe) c.767G>T (p.Cys256Phe) c.878G>T (p.Cys293Phe) c.946-211274G>T (n.946-211274G>T)
6	g.44230617T>A	CA364306645	POLR1C,SLC29A1	c.639T>A (p.Cys213Ter) n.1037T>A c.582T>A (p.Cys194Ter) c.326T>A n.828T>A c.876T>A (p.Cys292Ter) c.765T>A (p.Cys255Ter) c.717T>A (p.Cys239Ter) c.714T>A (p.Cys238Ter) c.768T>A (p.Cys256Ter) c.879T>A (p.Cys293Ter) c.946-211273T>A (n.946-211273T>A)
6	g.44230617T>C	CA450308560	POLR1C,SLC29A1	c.639T>C (p.Cys213=) n.1037T>C c.582T>C (p.Cys194=) c.326T>C n.828T>C c.876T>C (p.Cys292=) c.765T>C (p.Cys255=) c.717T>C (p.Cys239=) c.714T>C (p.Cys238=) c.768T>C (p.Cys256=) c.879T>C (p.Cys293=) c.946-211273T>C (n.946-211273T>C)
6	g.44230617T>G	CA364306647	POLR1C,SLC29A1	c.639T>G (p.Cys213Trp) n.1037T>G c.582T>G (p.Cys194Trp) c.326T>G n.828T>G c.876T>G (p.Cys292Trp) c.765T>G (p.Cys255Trp) c.717T>G (p.Cys239Trp) c.714T>G (p.Cys238Trp) c.768T>G (p.Cys256Trp) c.879T>G (p.Cys293Trp) c.946-211273T>G (n.946-211273T>G)
6	g.44230618G>A	CA364306657	POLR1C,SLC29A1	c.640G>A (p.Ala214Thr) n.1038G>A c.583G>A (p.Ala195Thr) c.327G>A n.829G>A c.877G>A (p.Ala293Thr) c.766G>A (p.Ala256Thr) c.718G>A (p.Ala240Thr) c.715G>A (p.Ala239Thr) c.769G>A (p.Ala257Thr) c.880G>A (p.Ala294Thr) c.946-211272G>A (n.946-211272G>A)
6	g.44230618G>C	CA364306660	POLR1C,SLC29A1	c.640G>C (p.Ala214Pro) n.1038G>C c.583G>C (p.Ala195Pro) c.327G>C n.829G>C c.877G>C (p.Ala293Pro) c.766G>C (p.Ala256Pro) c.718G>C (p.Ala240Pro) c.715G>C (p.Ala239Pro) c.769G>C (p.Ala257Pro) c.880G>C (p.Ala294Pro) c.946-211272G>C (n.946-211272G>C)
6	g.44230618G>T	CA364306663	POLR1C,SLC29A1	c.640G>T (p.Ala214Ser) n.1038G>T c.583G>T (p.Ala195Ser) c.327G>T n.829G>T c.877G>T (p.Ala293Ser) c.766G>T (p.Ala256Ser) c.718G>T (p.Ala240Ser) c.715G>T (p.Ala239Ser) c.769G>T (p.Ala257Ser) c.880G>T (p.Ala294Ser) c.946-211272G>T (n.946-211272G>T)
6	g.44230619C>A	CA364306668	POLR1C,SLC29A1	c.641C>A (p.Ala214Asp) n.1039C>A c.584C>A (p.Ala195Asp) c.328C>A n.830C>A c.878C>A (p.Ala293Asp) c.767C>A (p.Ala256Asp) c.719C>A (p.Ala240Asp) c.716C>A (p.Ala239Asp) c.770C>A (p.Ala257Asp) c.881C>A (p.Ala294Asp) c.946-211271C>A (n.946-211271C>A)
6	g.44230619C>G	CA364306671	POLR1C,SLC29A1	c.641C>G (p.Ala214Gly) n.1039C>G c.584C>G (p.Ala195Gly) c.328C>G n.830C>G c.878C>G (p.Ala293Gly) c.767C>G (p.Ala256Gly) c.719C>G (p.Ala240Gly) c.716C>G (p.Ala239Gly) c.770C>G (p.Ala257Gly) c.881C>G (p.Ala294Gly) c.946-211271C>G (n.946-211271C>G)
6	g.44230619C>T	CA364306674	POLR1C,SLC29A1	c.641C>T (p.Ala214Val) n.1039C>T c.584C>T (p.Ala195Val) c.328C>T n.830C>T c.878C>T (p.Ala293Val) c.767C>T (p.Ala256Val) c.719C>T (p.Ala240Val) c.716C>T (p.Ala239Val) c.770C>T (p.Ala257Val) c.881C>T (p.Ala294Val) c.946-211271C>T (n.946-211271C>T)
6	g.44230620T>A	CA450308562	POLR1C,SLC29A1	c.642T>A (p.Ala214=) n.1040T>A c.585T>A (p.Ala195=) c.329T>A n.831T>A c.879T>A (p.Ala293=) c.768T>A (p.Ala256=) c.720T>A (p.Ala240=) c.717T>A (p.Ala239=) c.771T>A (p.Ala257=) c.882T>A (p.Ala294=) c.946-211270T>A (n.946-211270T>A)
6	g.44230620T>C	CA138375348	POLR1C,SLC29A1	c.642T>C (p.Ala214=) n.1040T>C c.585T>C (p.Ala195=) c.329T>C n.831T>C c.879T>C (p.Ala293=) c.768T>C (p.Ala256=) c.720T>C (p.Ala240=) c.717T>C (p.Ala239=) c.771T>C (p.Ala257=) c.882T>C (p.Ala294=) c.946-211270T>C (n.946-211270T>C)	dbSNP
6	g.44230620T>G	CA450308561	POLR1C,SLC29A1	c.642T>G (p.Ala214=) n.1040T>G c.585T>G (p.Ala195=) c.329T>G n.831T>G c.879T>G (p.Ala293=) c.768T>G (p.Ala256=) c.720T>G (p.Ala240=) c.717T>G (p.Ala239=) c.771T>G (p.Ala257=) c.882T>G (p.Ala294=) c.946-211270T>G (n.946-211270T>G)
6	g.44230620T=	CA1624908503	POLR1C,SLC29A1	c.642T= (p.Ala214=) n.1040T= c.585T= (p.Ala195=) c.329T= n.831T= c.879T= (p.Ala293=) c.768T= (p.Ala256=) c.720T= (p.Ala240=) c.717T= (p.Ala239=) c.771T= (p.Ala257=) c.882T= (p.Ala294=) c.946-211270T= (n.946-211270T=)
6	g.44230621G>A	CA3831630	POLR1C,SLC29A1	c.643G>A (p.Val215Ile) n.1041G>A c.586G>A (p.Val196Ile) c.330G>A n.832G>A c.880G>A (p.Val294Ile) c.769G>A (p.Val257Ile) c.721G>A (p.Val241Ile) c.718G>A (p.Val240Ile) c.772G>A (p.Val258Ile) c.883G>A (p.Val295Ile) c.946-211269G>A (n.946-211269G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.44230621G>C	CA364306683	POLR1C,SLC29A1	c.643G>C (p.Val215Leu) n.1041G>C c.586G>C (p.Val196Leu) c.330G>C n.832G>C c.880G>C (p.Val294Leu) c.769G>C (p.Val257Leu) c.721G>C (p.Val241Leu) c.718G>C (p.Val240Leu) c.772G>C (p.Val258Leu) c.883G>C (p.Val295Leu) c.946-211269G>C (n.946-211269G>C)
6	g.44230621G=	CA1624908506	POLR1C,SLC29A1	c.643G= (p.Val215=) n.1041G= c.586G= (p.Val196=) c.330G= n.832G= c.880G= (p.Val294=) c.769G= (p.Val257=) c.721G= (p.Val241=) c.718G= (p.Val240=) c.772G= (p.Val258=) c.883G= (p.Val295=) c.946-211269G= (n.946-211269G=)
6	g.44230621G>T	CA364306688	POLR1C,SLC29A1	c.643G>T (p.Val215Phe) n.1041G>T c.586G>T (p.Val196Phe) c.330G>T n.832G>T c.880G>T (p.Val294Phe) c.769G>T (p.Val257Phe) c.721G>T (p.Val241Phe) c.718G>T (p.Val240Phe) c.772G>T (p.Val258Phe) c.883G>T (p.Val295Phe) c.946-211269G>T (n.946-211269G>T)
6	g.44230622T>A	CA364306693	POLR1C,SLC29A1	c.644T>A (p.Val215Asp) n.1042T>A c.587T>A (p.Val196Asp) c.331T>A n.833T>A c.881T>A (p.Val294Asp) c.770T>A (p.Val257Asp) c.722T>A (p.Val241Asp) c.719T>A (p.Val240Asp) c.773T>A (p.Val258Asp) c.884T>A (p.Val295Asp) c.946-211268T>A (n.946-211268T>A)
6	g.44230622T>C	CA364306696	POLR1C,SLC29A1	c.644T>C (p.Val215Ala) n.1042T>C c.587T>C (p.Val196Ala) c.331T>C n.833T>C c.881T>C (p.Val294Ala) c.770T>C (p.Val257Ala) c.722T>C (p.Val241Ala) c.719T>C (p.Val240Ala) c.773T>C (p.Val258Ala) c.884T>C (p.Val295Ala) c.946-211268T>C (n.946-211268T>C)
6	g.44230622T>G	CA364306700	POLR1C,SLC29A1	c.644T>G (p.Val215Gly) n.1042T>G c.587T>G (p.Val196Gly) c.331T>G n.833T>G c.881T>G (p.Val294Gly) c.770T>G (p.Val257Gly) c.722T>G (p.Val241Gly) c.719T>G (p.Val240Gly) c.773T>G (p.Val258Gly) c.884T>G (p.Val295Gly) c.946-211268T>G (n.946-211268T>G)
6	g.44230623T>A	CA3831631	POLR1C,SLC29A1	c.645T>A (p.Val215=) n.1043T>A c.588T>A (p.Val196=) c.332T>A n.834T>A c.882T>A (p.Val294=) c.771T>A (p.Val257=) c.723T>A (p.Val241=) c.720T>A (p.Val240=) c.774T>A (p.Val258=) c.885T>A (p.Val295=) c.946-211267T>A (n.946-211267T>A)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.44230623T>C	CA450308563	POLR1C,SLC29A1	c.645T>C (p.Val215=) n.1043T>C c.588T>C (p.Val196=) c.332T>C n.834T>C c.882T>C (p.Val294=) c.771T>C (p.Val257=) c.723T>C (p.Val241=) c.720T>C (p.Val240=) c.774T>C (p.Val258=) c.885T>C (p.Val295=) c.946-211267T>C (n.946-211267T>C)
6	g.44230623T>G	CA450308564	POLR1C,SLC29A1	c.645T>G (p.Val215=) n.1043T>G c.588T>G (p.Val196=) c.332T>G n.834T>G c.882T>G (p.Val294=) c.771T>G (p.Val257=) c.723T>G (p.Val241=) c.720T>G (p.Val240=) c.774T>G (p.Val258=) c.885T>G (p.Val295=) c.946-211267T>G (n.946-211267T>G)
6	g.44230623T=	CA1624908508	POLR1C,SLC29A1	c.645T= (p.Val215=) n.1043T= c.588T= (p.Val196=) c.332T= n.834T= c.882T= (p.Val294=) c.771T= (p.Val257=) c.723T= (p.Val241=) c.720T= (p.Val240=) c.774T= (p.Val258=) c.885T= (p.Val295=) c.946-211267T= (n.946-211267T=)
6	g.44230624A>C	CA364306707	POLR1C,SLC29A1	c.646A>C (p.Ile216Leu) n.1044A>C c.589A>C (p.Ile197Leu) c.333A>C n.835A>C c.883A>C (p.Ile295Leu) c.772A>C (p.Ile258Leu) c.724A>C (p.Ile242Leu) c.721A>C (p.Ile241Leu) c.775A>C (p.Ile259Leu) c.886A>C (p.Ile296Leu) c.946-211266A>C (n.946-211266A>C)
6	g.44230624A>G	CA364306704	POLR1C,SLC29A1	c.646A>G (p.Ile216Val) n.1044A>G c.589A>G (p.Ile197Val) c.333A>G n.835A>G c.883A>G (p.Ile295Val) c.772A>G (p.Ile258Val) c.724A>G (p.Ile242Val) c.721A>G (p.Ile241Val) c.775A>G (p.Ile259Val) c.886A>G (p.Ile296Val) c.946-211266A>G (n.946-211266A>G)
6	g.44230624A>T	CA364306701	POLR1C,SLC29A1	c.646A>T (p.Ile216Phe) n.1044A>T c.589A>T (p.Ile197Phe) c.333A>T n.835A>T c.883A>T (p.Ile295Phe) c.772A>T (p.Ile258Phe) c.724A>T (p.Ile242Phe) c.721A>T (p.Ile241Phe) c.775A>T (p.Ile259Phe) c.886A>T (p.Ile296Phe) c.946-211266A>T (n.946-211266A>T)
6	g.44230626_44230628del	CA2678935215	POLR1C,SLC29A1	c.648_650del (p.Ile217del) n.1046_1048del c.591_593del (p.Ile198del) c.335_337del n.837_839del c.885_887del (p.Ile296del) c.774_776del (p.Ile259del) c.726_728del (p.Ile243del) c.723_725del (p.Ile242del) c.777_779del (p.Ile260del) c.888_890del (p.Ile297del) c.946-211264_946-211262del (n.946-211264_946-211262del)	gnomAD v4
6	g.44230625T>A	CA364306714	POLR1C,SLC29A1	c.647T>A (p.Ile216Asn) n.1045T>A c.590T>A (p.Ile197Asn) c.334T>A n.836T>A c.884T>A (p.Ile295Asn) c.773T>A (p.Ile258Asn) c.725T>A (p.Ile242Asn) c.722T>A (p.Ile241Asn) c.776T>A (p.Ile259Asn) c.887T>A (p.Ile296Asn) c.946-211265T>A (n.946-211265T>A)
6	g.44230625T>C	CA3831632	POLR1C,SLC29A1	c.647T>C (p.Ile216Thr) n.1045T>C c.590T>C (p.Ile197Thr) c.334T>C n.836T>C c.884T>C (p.Ile295Thr) c.773T>C (p.Ile258Thr) c.725T>C (p.Ile242Thr) c.722T>C (p.Ile241Thr) c.776T>C (p.Ile259Thr) c.887T>C (p.Ile296Thr) c.946-211265T>C (n.946-211265T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.44230625T>G	CA364306720	POLR1C,SLC29A1	c.647T>G (p.Ile216Ser) n.1045T>G c.590T>G (p.Ile197Ser) c.334T>G n.836T>G c.884T>G (p.Ile295Ser) c.773T>G (p.Ile258Ser) c.725T>G (p.Ile242Ser) c.722T>G (p.Ile241Ser) c.776T>G (p.Ile259Ser) c.887T>G (p.Ile296Ser) c.946-211265T>G (n.946-211265T>G)
6	g.44230625T=	CA1624908510	POLR1C,SLC29A1	c.647T= (p.Ile216=) n.1045T= c.590T= (p.Ile197=) c.334T= n.836T= c.884T= (p.Ile295=) c.773T= (p.Ile258=) c.725T= (p.Ile242=) c.722T= (p.Ile241=) c.776T= (p.Ile259=) c.887T= (p.Ile296=) c.946-211265T= (n.946-211265T=)
6	g.44230626C>A	CA450308565	POLR1C,SLC29A1	c.648C>A (p.Ile216=) n.1046C>A c.591C>A (p.Ile197=) c.335C>A n.837C>A c.885C>A (p.Ile295=) c.774C>A (p.Ile258=) c.726C>A (p.Ile242=) c.723C>A (p.Ile241=) c.777C>A (p.Ile259=) c.888C>A (p.Ile296=) c.946-211264C>A (n.946-211264C>A)
6	g.44230626C>G	CA364306723	POLR1C,SLC29A1	c.648C>G (p.Ile216Met) n.1046C>G c.591C>G (p.Ile197Met) c.335C>G n.837C>G c.885C>G (p.Ile295Met) c.774C>G (p.Ile258Met) c.726C>G (p.Ile242Met) c.723C>G (p.Ile241Met) c.777C>G (p.Ile259Met) c.888C>G (p.Ile296Met) c.946-211264C>G (n.946-211264C>G)
6	g.44230626C>T	CA450308566	POLR1C,SLC29A1	c.648C>T (p.Ile216=) n.1046C>T c.591C>T (p.Ile197=) c.335C>T n.837C>T c.885C>T (p.Ile295=) c.774C>T (p.Ile258=) c.726C>T (p.Ile242=) c.723C>T (p.Ile241=) c.777C>T (p.Ile259=) c.888C>T (p.Ile296=) c.946-211264C>T (n.946-211264C>T)
6	g.44230627A=	CA1624908513	POLR1C,SLC29A1	c.649A= (p.Ile217=) n.1047A= c.592A= (p.Ile198=) c.336A= n.838A= c.886A= (p.Ile296=) c.775A= (p.Ile259=) c.727A= (p.Ile243=) c.724A= (p.Ile242=) c.778A= (p.Ile260=) c.889A= (p.Ile297=) c.946-211263A= (n.946-211263A=)
6	g.44230627A>C	CA364306729	POLR1C,SLC29A1	c.649A>C (p.Ile217Leu) n.1047A>C c.592A>C (p.Ile198Leu) c.336A>C n.838A>C c.886A>C (p.Ile296Leu) c.775A>C (p.Ile259Leu) c.727A>C (p.Ile243Leu) c.724A>C (p.Ile242Leu) c.778A>C (p.Ile260Leu) c.889A>C (p.Ile297Leu) c.946-211263A>C (n.946-211263A>C)
6	g.44230627A>G	CA364306733	POLR1C,SLC29A1	c.649A>G (p.Ile217Val) n.1047A>G c.592A>G (p.Ile198Val) c.336A>G n.838A>G c.886A>G (p.Ile296Val) c.775A>G (p.Ile259Val) c.727A>G (p.Ile243Val) c.724A>G (p.Ile242Val) c.778A>G (p.Ile260Val) c.889A>G (p.Ile297Val) c.946-211263A>G (n.946-211263A>G)	dbSNP gnomAD v3 gnomAD v4
6	g.44230627A>T	CA364306736	POLR1C,SLC29A1	c.649A>T (p.Ile217Phe) n.1047A>T c.592A>T (p.Ile198Phe) c.336A>T n.838A>T c.886A>T (p.Ile296Phe) c.775A>T (p.Ile259Phe) c.727A>T (p.Ile243Phe) c.724A>T (p.Ile242Phe) c.778A>T (p.Ile260Phe) c.889A>T (p.Ile297Phe) c.946-211263A>T (n.946-211263A>T)
6	g.44230628T>A	CA364306739	POLR1C,SLC29A1	c.650T>A (p.Ile217Asn) n.1048T>A c.593T>A (p.Ile198Asn) c.337T>A n.839T>A c.887T>A (p.Ile296Asn) c.776T>A (p.Ile259Asn) c.728T>A (p.Ile243Asn) c.725T>A (p.Ile242Asn) c.779T>A (p.Ile260Asn) c.890T>A (p.Ile297Asn) c.946-211262T>A (n.946-211262T>A)
6	g.44230628T>C	CA3831633	POLR1C,SLC29A1	c.650T>C (p.Ile217Thr) n.1048T>C c.593T>C (p.Ile198Thr) c.337T>C n.839T>C c.887T>C (p.Ile296Thr) c.776T>C (p.Ile259Thr) c.728T>C (p.Ile243Thr) c.725T>C (p.Ile242Thr) c.779T>C (p.Ile260Thr) c.890T>C (p.Ile297Thr) c.946-211262T>C (n.946-211262T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.44230628T>G	CA364306746	POLR1C,SLC29A1	c.650T>G (p.Ile217Ser) n.1048T>G c.593T>G (p.Ile198Ser) c.337T>G n.839T>G c.887T>G (p.Ile296Ser) c.776T>G (p.Ile259Ser) c.728T>G (p.Ile243Ser) c.725T>G (p.Ile242Ser) c.779T>G (p.Ile260Ser) c.890T>G (p.Ile297Ser) c.946-211262T>G (n.946-211262T>G)
6	g.44230628T=	CA1624908516	POLR1C,SLC29A1	c.650T= (p.Ile217=) n.1048T= c.593T= (p.Ile198=) c.337T= n.839T= c.887T= (p.Ile296=) c.776T= (p.Ile259=) c.728T= (p.Ile243=) c.725T= (p.Ile242=) c.779T= (p.Ile260=) c.890T= (p.Ile297=) c.946-211262T= (n.946-211262T=)
6	g.44230629T>A	CA450308567	POLR1C,SLC29A1	c.651T>A (p.Ile217=) n.1049T>A c.594T>A (p.Ile198=) c.338T>A n.840T>A c.888T>A (p.Ile296=) c.777T>A (p.Ile259=) c.729T>A (p.Ile243=) c.726T>A (p.Ile242=) c.780T>A (p.Ile260=) c.891T>A (p.Ile297=) c.946-211261T>A (n.946-211261T>A)
6	g.44230629T>C	CA450308568	POLR1C,SLC29A1	c.651T>C (p.Ile217=) n.1049T>C c.594T>C (p.Ile198=) c.338T>C n.840T>C c.888T>C (p.Ile296=) c.777T>C (p.Ile259=) c.729T>C (p.Ile243=) c.726T>C (p.Ile242=) c.780T>C (p.Ile260=) c.891T>C (p.Ile297=) c.946-211261T>C (n.946-211261T>C)
6	g.44230629T>G	CA364306752	POLR1C,SLC29A1	c.651T>G (p.Ile217Met) n.1049T>G c.594T>G (p.Ile198Met) c.338T>G n.840T>G c.888T>G (p.Ile296Met) c.777T>G (p.Ile259Met) c.729T>G (p.Ile243Met) c.726T>G (p.Ile242Met) c.780T>G (p.Ile260Met) c.891T>G (p.Ile297Met) c.946-211261T>G (n.946-211261T>G)	dbSNP
6	g.44230629T=	CA1624908518	POLR1C,SLC29A1	c.651T= (p.Ile217=) n.1049T= c.594T= (p.Ile198=) c.338T= n.840T= c.888T= (p.Ile296=) c.777T= (p.Ile259=) c.729T= (p.Ile243=) c.726T= (p.Ile242=) c.780T= (p.Ile260=) c.891T= (p.Ile297=) c.946-211261T= (n.946-211261T=)
6	g.44230630T>A	CA364306756	POLR1C,SLC29A1	c.652T>A (p.Leu218Met) n.1050T>A c.595T>A (p.Leu199Met) c.339T>A n.841T>A c.889T>A (p.Leu297Met) c.778T>A (p.Leu260Met) c.730T>A (p.Leu244Met) c.727T>A (p.Leu243Met) c.781T>A (p.Leu261Met) c.892T>A (p.Leu298Met) c.946-211260T>A (n.946-211260T>A)
6	g.44230630T>C	CA450308569	POLR1C,SLC29A1	c.652T>C (p.Leu218=) n.1050T>C c.595T>C (p.Leu199=) c.339T>C n.841T>C c.889T>C (p.Leu297=) c.778T>C (p.Leu260=) c.730T>C (p.Leu244=) c.727T>C (p.Leu243=) c.781T>C (p.Leu261=) c.892T>C (p.Leu298=) c.946-211260T>C (n.946-211260T>C)
6	g.44230630T>G	CA364306760	POLR1C,SLC29A1	c.652T>G (p.Leu218Val) n.1050T>G c.595T>G (p.Leu199Val) c.339T>G n.841T>G c.889T>G (p.Leu297Val) c.778T>G (p.Leu260Val) c.730T>G (p.Leu244Val) c.727T>G (p.Leu243Val) c.781T>G (p.Leu261Val) c.892T>G (p.Leu298Val) c.946-211260T>G (n.946-211260T>G)
6	g.44230631T>A	CA364306767	POLR1C,SLC29A1	c.653T>A (p.Leu218Ter) n.1051T>A c.596T>A (p.Leu199Ter) c.340T>A n.842T>A c.890T>A (p.Leu297Ter) c.779T>A (p.Leu260Ter) c.731T>A (p.Leu244Ter) c.728T>A (p.Leu243Ter) c.782T>A (p.Leu261Ter) c.893T>A (p.Leu298Ter) c.946-211259T>A (n.946-211259T>A)
6	g.44230631T>C	CA364306773	POLR1C,SLC29A1	c.653T>C (p.Leu218Ser) n.1051T>C c.596T>C (p.Leu199Ser) c.340T>C n.842T>C c.890T>C (p.Leu297Ser) c.779T>C (p.Leu260Ser) c.731T>C (p.Leu244Ser) c.728T>C (p.Leu243Ser) c.782T>C (p.Leu261Ser) c.893T>C (p.Leu298Ser) c.946-211259T>C (n.946-211259T>C)
6	g.44230631T>G	CA364306762	POLR1C,SLC29A1	c.653T>G (p.Leu218Trp) n.1051T>G c.596T>G (p.Leu199Trp) c.340T>G n.842T>G c.890T>G (p.Leu297Trp) c.779T>G (p.Leu260Trp) c.731T>G (p.Leu244Trp) c.728T>G (p.Leu243Trp) c.782T>G (p.Leu261Trp) c.893T>G (p.Leu298Trp) c.946-211259T>G (n.946-211259T>G)
6	g.44230632G>A	CA450308570	POLR1C,SLC29A1	c.654G>A (p.Leu218=) n.1052G>A c.597G>A (p.Leu199=) c.341G>A n.843G>A c.891G>A (p.Leu297=) c.780G>A (p.Leu260=) c.732G>A (p.Leu244=) c.729G>A (p.Leu243=) c.783G>A (p.Leu261=) c.894G>A (p.Leu298=) c.946-211258G>A (n.946-211258G>A)
6	g.44230632G>C	CA364306777	POLR1C,SLC29A1	c.654G>C (p.Leu218Phe) n.1052G>C c.597G>C (p.Leu199Phe) c.341G>C n.843G>C c.891G>C (p.Leu297Phe) c.780G>C (p.Leu260Phe) c.732G>C (p.Leu244Phe) c.729G>C (p.Leu243Phe) c.783G>C (p.Leu261Phe) c.894G>C (p.Leu298Phe) c.946-211258G>C (n.946-211258G>C)
6	g.44230632G>T	CA364306781	POLR1C,SLC29A1	c.654G>T (p.Leu218Phe) n.1052G>T c.597G>T (p.Leu199Phe) c.341G>T n.843G>T c.891G>T (p.Leu297Phe) c.780G>T (p.Leu260Phe) c.732G>T (p.Leu244Phe) c.729G>T (p.Leu243Phe) c.783G>T (p.Leu261Phe) c.894G>T (p.Leu298Phe) c.946-211258G>T (n.946-211258G>T)
6	g.44230633A>C	CA364306787	POLR1C,SLC29A1	c.655A>C (p.Thr219Pro) n.1053A>C c.598A>C (p.Thr200Pro) c.342A>C n.844A>C c.892A>C (p.Thr298Pro) c.781A>C (p.Thr261Pro) c.733A>C (p.Thr245Pro) c.730A>C (p.Thr244Pro) c.784A>C (p.Thr262Pro) c.895A>C (p.Thr299Pro) c.946-211257A>C (n.946-211257A>C)
6	g.44230633A>G	CA364306790	POLR1C,SLC29A1	c.655A>G (p.Thr219Ala) n.1053A>G c.598A>G (p.Thr200Ala) c.342A>G n.844A>G c.892A>G (p.Thr298Ala) c.781A>G (p.Thr261Ala) c.733A>G (p.Thr245Ala) c.730A>G (p.Thr244Ala) c.784A>G (p.Thr262Ala) c.895A>G (p.Thr299Ala) c.946-211257A>G (n.946-211257A>G)
6	g.44230633A>T	CA364306792	POLR1C,SLC29A1	c.655A>T (p.Thr219Ser) n.1053A>T c.598A>T (p.Thr200Ser) c.342A>T n.844A>T c.892A>T (p.Thr298Ser) c.781A>T (p.Thr261Ser) c.733A>T (p.Thr245Ser) c.730A>T (p.Thr244Ser) c.784A>T (p.Thr262Ser) c.895A>T (p.Thr299Ser) c.946-211257A>T (n.946-211257A>T)
6	g.44230634C>A	CA364306796	POLR1C,SLC29A1	c.656C>A (p.Thr219Asn) n.1054C>A c.599C>A (p.Thr200Asn) c.343C>A n.845C>A c.893C>A (p.Thr298Asn) c.782C>A (p.Thr261Asn) c.734C>A (p.Thr245Asn) c.731C>A (p.Thr244Asn) c.785C>A (p.Thr262Asn) c.896C>A (p.Thr299Asn) c.946-211256C>A (n.946-211256C>A)	gnomAD v4
6	g.44230634C>G	CA364306798	POLR1C,SLC29A1	c.656C>G (p.Thr219Ser) n.1054C>G c.599C>G (p.Thr200Ser) c.343C>G n.845C>G c.893C>G (p.Thr298Ser) c.782C>G (p.Thr261Ser) c.734C>G (p.Thr245Ser) c.731C>G (p.Thr244Ser) c.785C>G (p.Thr262Ser) c.896C>G (p.Thr299Ser) c.946-211256C>G (n.946-211256C>G)
6	g.44230634C>T	CA364306801	POLR1C,SLC29A1	c.656C>T (p.Thr219Ile) n.1054C>T c.599C>T (p.Thr200Ile) c.343C>T n.845C>T c.893C>T (p.Thr298Ile) c.782C>T (p.Thr261Ile) c.734C>T (p.Thr245Ile) c.731C>T (p.Thr244Ile) c.785C>T (p.Thr262Ile) c.896C>T (p.Thr299Ile) c.946-211256C>T (n.946-211256C>T)	gnomAD v4
6	g.44230635C>A	CA450308571	POLR1C,SLC29A1	c.657C>A (p.Thr219=) n.1055C>A c.600C>A (p.Thr200=) c.344C>A n.846C>A c.894C>A (p.Thr298=) c.783C>A (p.Thr261=) c.735C>A (p.Thr245=) c.732C>A (p.Thr244=) c.786C>A (p.Thr262=) c.897C>A (p.Thr299=) c.946-211255C>A (n.946-211255C>A)
6	g.44230635C=	CA1624908523	POLR1C,SLC29A1	c.657C= (p.Thr219=) n.1055C= c.600C= (p.Thr200=) c.344C= n.846C= c.894C= (p.Thr298=) c.783C= (p.Thr261=) c.735C= (p.Thr245=) c.732C= (p.Thr244=) c.786C= (p.Thr262=) c.897C= (p.Thr299=) c.946-211255C= (n.946-211255C=)
6	g.44230635C>G	CA450308572	POLR1C,SLC29A1	c.657C>G (p.Thr219=) n.1055C>G c.600C>G (p.Thr200=) c.344C>G n.846C>G c.894C>G (p.Thr298=) c.783C>G (p.Thr261=) c.735C>G (p.Thr245=) c.732C>G (p.Thr244=) c.786C>G (p.Thr262=) c.897C>G (p.Thr299=) c.946-211255C>G (n.946-211255C>G)
6	g.44230635C>T	CA450308573	POLR1C,SLC29A1	c.657C>T (p.Thr219=) n.1055C>T c.600C>T (p.Thr200=) c.344C>T n.846C>T c.894C>T (p.Thr298=) c.783C>T (p.Thr261=) c.735C>T (p.Thr245=) c.732C>T (p.Thr244=) c.786C>T (p.Thr262=) c.897C>T (p.Thr299=) c.946-211255C>T (n.946-211255C>T)	dbSNP gnomAD v4
6	g.44230636A>C	CA364306812	POLR1C,SLC29A1	c.658A>C (p.Ile220Leu) n.1056A>C c.601A>C (p.Ile201Leu) c.345A>C n.847A>C c.895A>C (p.Ile299Leu) c.784A>C (p.Ile262Leu) c.736A>C (p.Ile246Leu) c.733A>C (p.Ile245Leu) c.787A>C (p.Ile263Leu) c.898A>C (p.Ile300Leu) c.946-211254A>C (n.946-211254A>C)
6	g.44230636A>G	CA364306815	POLR1C,SLC29A1	c.658A>G (p.Ile220Val) n.1056A>G c.601A>G (p.Ile201Val) c.345A>G n.847A>G c.895A>G (p.Ile299Val) c.784A>G (p.Ile262Val) c.736A>G (p.Ile246Val) c.733A>G (p.Ile245Val) c.787A>G (p.Ile263Val) c.898A>G (p.Ile300Val) c.946-211254A>G (n.946-211254A>G)	gnomAD v4
6	g.44230636A>T	CA364306817	POLR1C,SLC29A1	c.658A>T (p.Ile220Phe) n.1056A>T c.601A>T (p.Ile201Phe) c.345A>T n.847A>T c.895A>T (p.Ile299Phe) c.784A>T (p.Ile262Phe) c.736A>T (p.Ile246Phe) c.733A>T (p.Ile245Phe) c.787A>T (p.Ile263Phe) c.898A>T (p.Ile300Phe) c.946-211254A>T (n.946-211254A>T)
6	g.44230637T>A	CA364306828	POLR1C,SLC29A1	c.659T>A (p.Ile220Asn) n.1057T>A c.602T>A (p.Ile201Asn) c.346T>A n.848T>A c.896T>A (p.Ile299Asn) c.785T>A (p.Ile262Asn) c.737T>A (p.Ile246Asn) c.734T>A (p.Ile245Asn) c.788T>A (p.Ile263Asn) c.899T>A (p.Ile300Asn) c.946-211253T>A (n.946-211253T>A)
6	g.44230637T>C	CA364306825	POLR1C,SLC29A1	c.659T>C (p.Ile220Thr) n.1057T>C c.602T>C (p.Ile201Thr) c.346T>C n.848T>C c.896T>C (p.Ile299Thr) c.785T>C (p.Ile262Thr) c.737T>C (p.Ile246Thr) c.734T>C (p.Ile245Thr) c.788T>C (p.Ile263Thr) c.899T>C (p.Ile300Thr) c.946-211253T>C (n.946-211253T>C)	dbSNP
6	g.44230637T>G	CA364306821	POLR1C,SLC29A1	c.659T>G (p.Ile220Ser) n.1057T>G c.602T>G (p.Ile201Ser) c.346T>G n.848T>G c.896T>G (p.Ile299Ser) c.785T>G (p.Ile262Ser) c.737T>G (p.Ile246Ser) c.734T>G (p.Ile245Ser) c.788T>G (p.Ile263Ser) c.899T>G (p.Ile300Ser) c.946-211253T>G (n.946-211253T>G)
6	g.44230637T=	CA1624908529	POLR1C,SLC29A1	c.659T= (p.Ile220=) n.1057T= c.602T= (p.Ile201=) c.346T= n.848T= c.896T= (p.Ile299=) c.785T= (p.Ile262=) c.737T= (p.Ile246=) c.734T= (p.Ile245=) c.788T= (p.Ile263=) c.899T= (p.Ile300=) c.946-211253T= (n.946-211253T=)
6	g.44230638C>A	CA450308574	POLR1C,SLC29A1	c.660C>A (p.Ile220=) n.1058C>A c.603C>A (p.Ile201=) c.347C>A n.849C>A c.897C>A (p.Ile299=) c.786C>A (p.Ile262=) c.738C>A (p.Ile246=) c.735C>A (p.Ile245=) c.789C>A (p.Ile263=) c.900C>A (p.Ile300=) c.946-211252C>A (n.946-211252C>A)
6	g.44230638C>G	CA364306832	POLR1C,SLC29A1	c.660C>G (p.Ile220Met) n.1058C>G c.603C>G (p.Ile201Met) c.347C>G n.849C>G c.897C>G (p.Ile299Met) c.786C>G (p.Ile262Met) c.738C>G (p.Ile246Met) c.735C>G (p.Ile245Met) c.789C>G (p.Ile263Met) c.900C>G (p.Ile300Met) c.946-211252C>G (n.946-211252C>G)
6	g.44230638C>T	CA450308575	POLR1C,SLC29A1	c.660C>T (p.Ile220=) n.1058C>T c.603C>T (p.Ile201=) c.347C>T n.849C>T c.897C>T (p.Ile299=) c.786C>T (p.Ile262=) c.738C>T (p.Ile246=) c.735C>T (p.Ile245=) c.789C>T (p.Ile263=) c.900C>T (p.Ile300=) c.946-211252C>T (n.946-211252C>T)	gnomAD v4
6	g.44230639A=	CA1624908535	POLR1C,SLC29A1	c.661A= (p.Ile221=) n.1059A= c.604A= (p.Ile202=) c.348A= n.850A= c.898A= (p.Ile300=) c.787A= (p.Ile263=) c.739A= (p.Ile247=) c.736A= (p.Ile246=) c.790A= (p.Ile264=) c.901A= (p.Ile301=) c.946-211251A= (n.946-211251A=)
6	g.44230639A>C	CA364306838	POLR1C,SLC29A1	c.661A>C (p.Ile221Leu) n.1059A>C c.604A>C (p.Ile202Leu) c.348A>C n.850A>C c.898A>C (p.Ile300Leu) c.787A>C (p.Ile263Leu) c.739A>C (p.Ile247Leu) c.736A>C (p.Ile246Leu) c.790A>C (p.Ile264Leu) c.901A>C (p.Ile301Leu) c.946-211251A>C (n.946-211251A>C)
6	g.44230639A>G	CA138375360	POLR1C,SLC29A1	c.661A>G (p.Ile221Val) n.1059A>G c.604A>G (p.Ile202Val) c.348A>G n.850A>G c.898A>G (p.Ile300Val) c.787A>G (p.Ile263Val) c.739A>G (p.Ile247Val) c.736A>G (p.Ile246Val) c.790A>G (p.Ile264Val) c.901A>G (p.Ile301Val) c.946-211251A>G (n.946-211251A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.44230639A>T	CA364306847	POLR1C,SLC29A1	c.661A>T (p.Ile221Phe) n.1059A>T c.604A>T (p.Ile202Phe) c.348A>T n.850A>T c.898A>T (p.Ile300Phe) c.787A>T (p.Ile263Phe) c.739A>T (p.Ile247Phe) c.736A>T (p.Ile246Phe) c.790A>T (p.Ile264Phe) c.901A>T (p.Ile301Phe) c.946-211251A>T (n.946-211251A>T)
6	g.44230640T>A	CA364306854	POLR1C,SLC29A1	c.662T>A (p.Ile221Asn) n.1060T>A c.605T>A (p.Ile202Asn) c.349T>A n.851T>A c.899T>A (p.Ile300Asn) c.788T>A (p.Ile263Asn) c.740T>A (p.Ile247Asn) c.737T>A (p.Ile246Asn) c.791T>A (p.Ile264Asn) c.902T>A (p.Ile301Asn) c.946-211250T>A (n.946-211250T>A)
6	g.44230640T>C	CA364306862	POLR1C,SLC29A1	c.662T>C (p.Ile221Thr) n.1060T>C c.605T>C (p.Ile202Thr) c.349T>C n.851T>C c.899T>C (p.Ile300Thr) c.788T>C (p.Ile263Thr) c.740T>C (p.Ile247Thr) c.737T>C (p.Ile246Thr) c.791T>C (p.Ile264Thr) c.902T>C (p.Ile301Thr) c.946-211250T>C (n.946-211250T>C)
6	g.44230640T>G	CA364306866	POLR1C,SLC29A1	c.662T>G (p.Ile221Ser) n.1060T>G c.605T>G (p.Ile202Ser) c.349T>G n.851T>G c.899T>G (p.Ile300Ser) c.788T>G (p.Ile263Ser) c.740T>G (p.Ile247Ser) c.737T>G (p.Ile246Ser) c.791T>G (p.Ile264Ser) c.902T>G (p.Ile301Ser) c.946-211250T>G (n.946-211250T>G)
6	g.44230641C>A	CA450308576	POLR1C,SLC29A1	c.663C>A (p.Ile221=) n.1061C>A c.606C>A (p.Ile202=) c.350C>A n.852C>A c.900C>A (p.Ile300=) c.789C>A (p.Ile263=) c.741C>A (p.Ile247=) c.738C>A (p.Ile246=) c.792C>A (p.Ile264=) c.903C>A (p.Ile301=) c.946-211249C>A (n.946-211249C>A)
6	g.44230641C=	CA1624908543	POLR1C,SLC29A1	c.663C= (p.Ile221=) n.1061C= c.606C= (p.Ile202=) c.350C= n.852C= c.900C= (p.Ile300=) c.789C= (p.Ile263=) c.741C= (p.Ile247=) c.738C= (p.Ile246=) c.792C= (p.Ile264=) c.903C= (p.Ile301=) c.946-211249C= (n.946-211249C=)
6	g.44230641C>G	CA364306869	POLR1C,SLC29A1	c.663C>G (p.Ile221Met) n.1061C>G c.606C>G (p.Ile202Met) c.350C>G n.852C>G c.900C>G (p.Ile300Met) c.789C>G (p.Ile263Met) c.741C>G (p.Ile247Met) c.738C>G (p.Ile246Met) c.792C>G (p.Ile264Met) c.903C>G (p.Ile301Met) c.946-211249C>G (n.946-211249C>G)	dbSNP gnomAD v4
6	g.44230641C>T	CA3831634	POLR1C,SLC29A1	c.663C>T (p.Ile221=) n.1061C>T c.606C>T (p.Ile202=) c.350C>T n.852C>T c.900C>T (p.Ile300=) c.789C>T (p.Ile263=) c.741C>T (p.Ile247=) c.738C>T (p.Ile246=) c.792C>T (p.Ile264=) c.903C>T (p.Ile301=) c.946-211249C>T (n.946-211249C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.44230642T>A	CA364306878	POLR1C,SLC29A1	c.664T>A (p.Cys222Ser) n.1062T>A c.607T>A (p.Cys203Ser) c.351T>A n.853T>A c.901T>A (p.Cys301Ser) c.790T>A (p.Cys264Ser) c.742T>A (p.Cys248Ser) c.739T>A (p.Cys247Ser) c.793T>A (p.Cys265Ser) c.904T>A (p.Cys302Ser) c.946-211248T>A (n.946-211248T>A)
6	g.44230642T>C	CA364306884	POLR1C,SLC29A1	c.664T>C (p.Cys222Arg) n.1062T>C c.607T>C (p.Cys203Arg) c.351T>C n.853T>C c.901T>C (p.Cys301Arg) c.790T>C (p.Cys264Arg) c.742T>C (p.Cys248Arg) c.739T>C (p.Cys247Arg) c.793T>C (p.Cys265Arg) c.904T>C (p.Cys302Arg) c.946-211248T>C (n.946-211248T>C)	gnomAD v4
6	g.44230642T>G	CA364306889	POLR1C,SLC29A1	c.664T>G (p.Cys222Gly) n.1062T>G c.607T>G (p.Cys203Gly) c.351T>G n.853T>G c.901T>G (p.Cys301Gly) c.790T>G (p.Cys264Gly) c.742T>G (p.Cys248Gly) c.739T>G (p.Cys247Gly) c.793T>G (p.Cys265Gly) c.904T>G (p.Cys302Gly) c.946-211248T>G (n.946-211248T>G)
6	g.44230643G>A	CA364306892	POLR1C,SLC29A1	c.665G>A (p.Cys222Tyr) n.1063G>A c.608G>A (p.Cys203Tyr) c.352G>A n.854G>A c.902G>A (p.Cys301Tyr) c.791G>A (p.Cys264Tyr) c.743G>A (p.Cys248Tyr) c.740G>A (p.Cys247Tyr) c.794G>A (p.Cys265Tyr) c.905G>A (p.Cys302Tyr) c.946-211247G>A (n.946-211247G>A)
6	g.44230643G>C	CA3831635	POLR1C,SLC29A1	c.665G>C (p.Cys222Ser) n.1063G>C c.608G>C (p.Cys203Ser) c.352G>C n.854G>C c.902G>C (p.Cys301Ser) c.791G>C (p.Cys264Ser) c.743G>C (p.Cys248Ser) c.740G>C (p.Cys247Ser) c.794G>C (p.Cys265Ser) c.905G>C (p.Cys302Ser) c.946-211247G>C (n.946-211247G>C)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.44230643G=	CA1624908547	POLR1C,SLC29A1	c.665G= (p.Cys222=) n.1063G= c.608G= (p.Cys203=) c.352G= n.854G= c.902G= (p.Cys301=) c.791G= (p.Cys264=) c.743G= (p.Cys248=) c.740G= (p.Cys247=) c.794G= (p.Cys265=) c.905G= (p.Cys302=) c.946-211247G= (n.946-211247G=)
6	g.44230643G>T	CA364306890	POLR1C,SLC29A1	c.665G>T (p.Cys222Phe) n.1063G>T c.608G>T (p.Cys203Phe) c.352G>T n.854G>T c.902G>T (p.Cys301Phe) c.791G>T (p.Cys264Phe) c.743G>T (p.Cys248Phe) c.740G>T (p.Cys247Phe) c.794G>T (p.Cys265Phe) c.905G>T (p.Cys302Phe) c.946-211247G>T (n.946-211247G>T)	dbSNP gnomAD v3 gnomAD v4
6	g.44230644T>A	CA364306897	POLR1C,SLC29A1	c.666T>A (p.Cys222Ter) n.1064T>A c.609T>A (p.Cys203Ter) c.353T>A n.855T>A c.903T>A (p.Cys301Ter) c.792T>A (p.Cys264Ter) c.744T>A (p.Cys248Ter) c.741T>A (p.Cys247Ter) c.795T>A (p.Cys265Ter) c.906T>A (p.Cys302Ter) c.946-211246T>A (n.946-211246T>A)
6	g.44230644T>C	CA450308577	POLR1C,SLC29A1	c.666T>C (p.Cys222=) n.1064T>C c.609T>C (p.Cys203=) c.353T>C n.855T>C c.903T>C (p.Cys301=) c.792T>C (p.Cys264=) c.744T>C (p.Cys248=) c.741T>C (p.Cys247=) c.795T>C (p.Cys265=) c.906T>C (p.Cys302=) c.946-211246T>C (n.946-211246T>C)	dbSNP gnomAD v4
6	g.44230644T>G	CA364306909	POLR1C,SLC29A1	c.666T>G (p.Cys222Trp) n.1064T>G c.609T>G (p.Cys203Trp) c.353T>G n.855T>G c.903T>G (p.Cys301Trp) c.792T>G (p.Cys264Trp) c.744T>G (p.Cys248Trp) c.741T>G (p.Cys247Trp) c.795T>G (p.Cys265Trp) c.906T>G (p.Cys302Trp) c.946-211246T>G (n.946-211246T>G)
6	g.44230644T=	CA1624908555	POLR1C,SLC29A1	c.666T= (p.Cys222=) n.1064T= c.609T= (p.Cys203=) c.353T= n.855T= c.903T= (p.Cys301=) c.792T= (p.Cys264=) c.744T= (p.Cys248=) c.741T= (p.Cys247=) c.795T= (p.Cys265=) c.906T= (p.Cys302=) c.946-211246T= (n.946-211246T=)
6	g.44230645T>A	CA364306912	POLR1C,SLC29A1	c.667T>A (p.Tyr223Asn) n.1065T>A c.610T>A (p.Tyr204Asn) c.354T>A n.856T>A c.904T>A (p.Tyr302Asn) c.793T>A (p.Tyr265Asn) c.745T>A (p.Tyr249Asn) c.742T>A (p.Tyr248Asn) c.796T>A (p.Tyr266Asn) c.907T>A (p.Tyr303Asn) c.946-211245T>A (n.946-211245T>A)
6	g.44230645T>C	CA364306916	POLR1C,SLC29A1	c.667T>C (p.Tyr223His) n.1065T>C c.610T>C (p.Tyr204His) c.354T>C n.856T>C c.904T>C (p.Tyr302His) c.793T>C (p.Tyr265His) c.745T>C (p.Tyr249His) c.742T>C (p.Tyr248His) c.796T>C (p.Tyr266His) c.907T>C (p.Tyr303His) c.946-211245T>C (n.946-211245T>C)	gnomAD v4
6	g.44230645T>G	CA364306919	POLR1C,SLC29A1	c.667T>G (p.Tyr223Asp) n.1065T>G c.610T>G (p.Tyr204Asp) c.354T>G n.856T>G c.904T>G (p.Tyr302Asp) c.793T>G (p.Tyr265Asp) c.745T>G (p.Tyr249Asp) c.742T>G (p.Tyr248Asp) c.796T>G (p.Tyr266Asp) c.907T>G (p.Tyr303Asp) c.946-211245T>G (n.946-211245T>G)
6	g.44230646A=	CA1624908559	POLR1C,SLC29A1	c.668A= (p.Tyr223=) n.1066A= c.611A= (p.Tyr204=) c.355A= n.857A= c.905A= (p.Tyr302=) c.794A= (p.Tyr265=) c.746A= (p.Tyr249=) c.743A= (p.Tyr248=) c.797A= (p.Tyr266=) c.908A= (p.Tyr303=) c.946-211244A= (n.946-211244A=)
6	g.44230646A>C	CA364306925	POLR1C,SLC29A1	c.668A>C (p.Tyr223Ser) n.1066A>C c.611A>C (p.Tyr204Ser) c.355A>C n.857A>C c.905A>C (p.Tyr302Ser) c.794A>C (p.Tyr265Ser) c.746A>C (p.Tyr249Ser) c.743A>C (p.Tyr248Ser) c.797A>C (p.Tyr266Ser) c.908A>C (p.Tyr303Ser) c.946-211244A>C (n.946-211244A>C)	dbSNP
6	g.44230646A>G	CA364306933	POLR1C,SLC29A1	c.668A>G (p.Tyr223Cys) n.1066A>G c.611A>G (p.Tyr204Cys) c.355A>G n.857A>G c.905A>G (p.Tyr302Cys) c.794A>G (p.Tyr265Cys) c.746A>G (p.Tyr249Cys) c.743A>G (p.Tyr248Cys) c.797A>G (p.Tyr266Cys) c.908A>G (p.Tyr303Cys) c.946-211244A>G (n.946-211244A>G)
6	g.44230646A>T	CA364306936	POLR1C,SLC29A1	c.668A>T (p.Tyr223Phe) n.1066A>T c.611A>T (p.Tyr204Phe) c.355A>T n.857A>T c.905A>T (p.Tyr302Phe) c.794A>T (p.Tyr265Phe) c.746A>T (p.Tyr249Phe) c.743A>T (p.Tyr248Phe) c.797A>T (p.Tyr266Phe) c.908A>T (p.Tyr303Phe) c.946-211244A>T (n.946-211244A>T)
6	g.44230647C>A	CA364306946	POLR1C,SLC29A1	c.669C>A (p.Tyr223Ter) n.1067C>A c.612C>A (p.Tyr204Ter) c.356C>A n.858C>A c.906C>A (p.Tyr302Ter) c.795C>A (p.Tyr265Ter) c.747C>A (p.Tyr249Ter) c.744C>A (p.Tyr248Ter) c.798C>A (p.Tyr266Ter) c.909C>A (p.Tyr303Ter) c.946-211243C>A (n.946-211243C>A)
6	g.44230647C>G	CA364306948	POLR1C,SLC29A1	c.669C>G (p.Tyr223Ter) n.1067C>G c.612C>G (p.Tyr204Ter) c.356C>G n.858C>G c.906C>G (p.Tyr302Ter) c.795C>G (p.Tyr265Ter) c.747C>G (p.Tyr249Ter) c.744C>G (p.Tyr248Ter) c.798C>G (p.Tyr266Ter) c.909C>G (p.Tyr303Ter) c.946-211243C>G (n.946-211243C>G)
6	g.44230647C>T	CA450308578	POLR1C,SLC29A1	c.669C>T (p.Tyr223=) n.1067C>T c.612C>T (p.Tyr204=) c.356C>T n.858C>T c.906C>T (p.Tyr302=) c.795C>T (p.Tyr265=) c.747C>T (p.Tyr249=) c.744C>T (p.Tyr248=) c.798C>T (p.Tyr266=) c.909C>T (p.Tyr303=) c.946-211243C>T (n.946-211243C>T)
6	g.44230648C>A	CA364306953	POLR1C,SLC29A1	c.670C>A (p.Leu224Met) n.1068C>A c.613C>A (p.Leu205Met) c.357C>A n.859C>A c.907C>A (p.Leu303Met) c.796C>A (p.Leu266Met) c.748C>A (p.Leu250Met) c.745C>A (p.Leu249Met) c.799C>A (p.Leu267Met) c.910C>A (p.Leu304Met) c.946-211242C>A (n.946-211242C>A)
6	g.44230648C>G	CA364306957	POLR1C,SLC29A1	c.670C>G (p.Leu224Val) n.1068C>G c.613C>G (p.Leu205Val) c.357C>G n.859C>G c.907C>G (p.Leu303Val) c.796C>G (p.Leu266Val) c.748C>G (p.Leu250Val) c.745C>G (p.Leu249Val) c.799C>G (p.Leu267Val) c.910C>G (p.Leu304Val) c.946-211242C>G (n.946-211242C>G)
6	g.44230648C>T	CA450308579	POLR1C,SLC29A1	c.670C>T (p.Leu224=) n.1068C>T c.613C>T (p.Leu205=) c.357C>T n.859C>T c.907C>T (p.Leu303=) c.796C>T (p.Leu266=) c.748C>T (p.Leu250=) c.745C>T (p.Leu249=) c.799C>T (p.Leu267=) c.910C>T (p.Leu304=) c.946-211242C>T (n.946-211242C>T)
6	g.44230649T>A	CA364306962	POLR1C,SLC29A1	c.671T>A (p.Leu224Gln) n.1069T>A c.614T>A (p.Leu205Gln) c.358T>A n.860T>A c.908T>A (p.Leu303Gln) c.797T>A (p.Leu266Gln) c.749T>A (p.Leu250Gln) c.746T>A (p.Leu249Gln) c.800T>A (p.Leu267Gln) c.911T>A (p.Leu304Gln) c.946-211241T>A (n.946-211241T>A)
6	g.44230649T>C	CA364306965	POLR1C,SLC29A1	c.671T>C (p.Leu224Pro) n.1069T>C c.614T>C (p.Leu205Pro) c.358T>C n.860T>C c.908T>C (p.Leu303Pro) c.797T>C (p.Leu266Pro) c.749T>C (p.Leu250Pro) c.746T>C (p.Leu249Pro) c.800T>C (p.Leu267Pro) c.911T>C (p.Leu304Pro) c.946-211241T>C (n.946-211241T>C)
6	g.44230649T>G	CA364306969	POLR1C,SLC29A1	c.671T>G (p.Leu224Arg) n.1069T>G c.614T>G (p.Leu205Arg) c.358T>G n.860T>G c.908T>G (p.Leu303Arg) c.797T>G (p.Leu266Arg) c.749T>G (p.Leu250Arg) c.746T>G (p.Leu249Arg) c.800T>G (p.Leu267Arg) c.911T>G (p.Leu304Arg) c.946-211241T>G (n.946-211241T>G)
6	g.44230650G>A	CA450308580	POLR1C,SLC29A1	c.672G>A (p.Leu224=) n.1070G>A c.615G>A (p.Leu205=) c.359G>A n.861G>A c.909G>A (p.Leu303=) c.798G>A (p.Leu266=) c.750G>A (p.Leu250=) c.747G>A (p.Leu249=) c.801G>A (p.Leu267=) c.912G>A (p.Leu304=) c.946-211240G>A (n.946-211240G>A)	dbSNP gnomAD v4
6	g.44230650G>C	CA450308581	POLR1C,SLC29A1	c.672G>C (p.Leu224=) n.1070G>C c.615G>C (p.Leu205=) c.359G>C n.861G>C c.909G>C (p.Leu303=) c.798G>C (p.Leu266=) c.750G>C (p.Leu250=) c.747G>C (p.Leu249=) c.801G>C (p.Leu267=) c.912G>C (p.Leu304=) c.946-211240G>C (n.946-211240G>C)
6	g.44230650G=	CA1624908564	POLR1C,SLC29A1	c.672G= (p.Leu224=) n.1070G= c.615G= (p.Leu205=) c.359G= n.861G= c.909G= (p.Leu303=) c.798G= (p.Leu266=) c.750G= (p.Leu250=) c.747G= (p.Leu249=) c.801G= (p.Leu267=) c.912G= (p.Leu304=) c.946-211240G= (n.946-211240G=)
6	g.44230650G>T	CA450308582	POLR1C,SLC29A1	c.672G>T (p.Leu224=) n.1070G>T c.615G>T (p.Leu205=) c.359G>T n.861G>T c.909G>T (p.Leu303=) c.798G>T (p.Leu266=) c.750G>T (p.Leu250=) c.747G>T (p.Leu249=) c.801G>T (p.Leu267=) c.912G>T (p.Leu304=) c.946-211240G>T (n.946-211240G>T)
6	g.44230651G>A	CA3831636	POLR1C,SLC29A1	c.673G>A (p.Gly225Ser) n.1071G>A c.616G>A (p.Gly206Ser) c.360G>A n.862G>A c.910G>A (p.Gly304Ser) c.799G>A (p.Gly267Ser) c.751G>A (p.Gly251Ser) c.748G>A (p.Gly250Ser) c.802G>A (p.Gly268Ser) c.913G>A (p.Gly305Ser) c.946-211239G>A (n.946-211239G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.44230651G>C	CA3831637	POLR1C,SLC29A1	c.673G>C (p.Gly225Arg) n.1071G>C c.616G>C (p.Gly206Arg) c.360G>C n.862G>C c.910G>C (p.Gly304Arg) c.799G>C (p.Gly267Arg) c.751G>C (p.Gly251Arg) c.748G>C (p.Gly250Arg) c.802G>C (p.Gly268Arg) c.913G>C (p.Gly305Arg) c.946-211239G>C (n.946-211239G>C)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.44230651G=	CA1624908569	POLR1C,SLC29A1	c.673G= (p.Gly225=) n.1071G= c.616G= (p.Gly206=) c.360G= n.862G= c.910G= (p.Gly304=) c.799G= (p.Gly267=) c.751G= (p.Gly251=) c.748G= (p.Gly250=) c.802G= (p.Gly268=) c.913G= (p.Gly305=) c.946-211239G= (n.946-211239G=)
6	g.44230651G>T	CA364306976	POLR1C,SLC29A1	c.673G>T (p.Gly225Cys) n.1071G>T c.616G>T (p.Gly206Cys) c.360G>T n.862G>T c.910G>T (p.Gly304Cys) c.799G>T (p.Gly267Cys) c.751G>T (p.Gly251Cys) c.748G>T (p.Gly250Cys) c.802G>T (p.Gly268Cys) c.913G>T (p.Gly305Cys) c.946-211239G>T (n.946-211239G>T)
6	g.44230652G>A	CA364306989	POLR1C,SLC29A1	c.674G>A (p.Gly225Asp) n.1072G>A c.617G>A (p.Gly206Asp) c.361G>A n.863G>A c.911G>A (p.Gly304Asp) c.800G>A (p.Gly267Asp) c.752G>A (p.Gly251Asp) c.749G>A (p.Gly250Asp) c.803G>A (p.Gly268Asp) c.914G>A (p.Gly305Asp) c.946-211238G>A (n.946-211238G>A)
6	g.44230652G>C	CA364306993	POLR1C,SLC29A1	c.674G>C (p.Gly225Ala) n.1072G>C c.617G>C (p.Gly206Ala) c.361G>C n.863G>C c.911G>C (p.Gly304Ala) c.800G>C (p.Gly267Ala) c.752G>C (p.Gly251Ala) c.749G>C (p.Gly250Ala) c.803G>C (p.Gly268Ala) c.914G>C (p.Gly305Ala) c.946-211238G>C (n.946-211238G>C)
6	g.44230652G>T	CA364306994	POLR1C,SLC29A1	c.674G>T (p.Gly225Val) n.1072G>T c.617G>T (p.Gly206Val) c.361G>T n.863G>T c.911G>T (p.Gly304Val) c.800G>T (p.Gly267Val) c.752G>T (p.Gly251Val) c.749G>T (p.Gly250Val) c.803G>T (p.Gly268Val) c.914G>T (p.Gly305Val) c.946-211238G>T (n.946-211238G>T)	gnomAD v4
6	g.44230653C>A	CA450308583	POLR1C,SLC29A1	c.675C>A (p.Gly225=) n.1073C>A c.618C>A (p.Gly206=) c.362C>A n.864C>A c.912C>A (p.Gly304=) c.801C>A (p.Gly267=) c.753C>A (p.Gly251=) c.750C>A (p.Gly250=) c.804C>A (p.Gly268=) c.915C>A (p.Gly305=) c.946-211237C>A (n.946-211237C>A)
6	g.44230653C>G	CA450308585	POLR1C,SLC29A1	c.675C>G (p.Gly225=) n.1073C>G c.618C>G (p.Gly206=) c.362C>G n.864C>G c.912C>G (p.Gly304=) c.801C>G (p.Gly267=) c.753C>G (p.Gly251=) c.750C>G (p.Gly250=) c.804C>G (p.Gly268=) c.915C>G (p.Gly305=) c.946-211237C>G (n.946-211237C>G)
6	g.44230653C>T	CA450308584	POLR1C,SLC29A1	c.675C>T (p.Gly225=) n.1073C>T c.618C>T (p.Gly206=) c.362C>T n.864C>T c.912C>T (p.Gly304=) c.801C>T (p.Gly267=) c.753C>T (p.Gly251=) c.750C>T (p.Gly250=) c.804C>T (p.Gly268=) c.915C>T (p.Gly305=) c.946-211237C>T (n.946-211237C>T)
6	g.44230654C>A	CA364306995	POLR1C,SLC29A1	c.676C>A (p.Leu226Met) n.1074C>A c.619C>A (p.Leu207Met) c.363C>A n.865C>A c.913C>A (p.Leu305Met) c.802C>A (p.Leu268Met) c.754C>A (p.Leu252Met) c.751C>A (p.Leu251Met) c.805C>A (p.Leu269Met) c.916C>A (p.Leu306Met) c.946-211236C>A (n.946-211236C>A)
6	g.44230654C=	CA1624908574	POLR1C,SLC29A1	c.676C= (p.Leu226=) n.1074C= c.619C= (p.Leu207=) c.363C= n.865C= c.913C= (p.Leu305=) c.802C= (p.Leu268=) c.754C= (p.Leu252=) c.751C= (p.Leu251=) c.805C= (p.Leu269=) c.916C= (p.Leu306=) c.946-211236C= (n.946-211236C=)
6	g.44230654C>G	CA364306997	POLR1C,SLC29A1	c.676C>G (p.Leu226Val) n.1074C>G c.619C>G (p.Leu207Val) c.363C>G n.865C>G c.913C>G (p.Leu305Val) c.802C>G (p.Leu268Val) c.754C>G (p.Leu252Val) c.751C>G (p.Leu251Val) c.805C>G (p.Leu269Val) c.916C>G (p.Leu306Val) c.946-211236C>G (n.946-211236C>G)
6	g.44230654C>T	CA3831638	POLR1C,SLC29A1	c.676C>T (p.Leu226=) n.1074C>T c.619C>T (p.Leu207=) c.363C>T n.865C>T c.913C>T (p.Leu305=) c.802C>T (p.Leu268=) c.754C>T (p.Leu252=) c.751C>T (p.Leu251=) c.805C>T (p.Leu269=) c.916C>T (p.Leu306=) c.946-211236C>T (n.946-211236C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.44230655T>A	CA364307007	POLR1C,SLC29A1	c.677T>A (p.Leu226Gln) n.1075T>A c.620T>A (p.Leu207Gln) c.364T>A n.866T>A c.914T>A (p.Leu305Gln) c.803T>A (p.Leu268Gln) c.755T>A (p.Leu252Gln) c.752T>A (p.Leu251Gln) c.806T>A (p.Leu269Gln) c.917T>A (p.Leu306Gln) c.946-211235T>A (n.946-211235T>A)
6	g.44230655T>C	CA364307011	POLR1C,SLC29A1	c.677T>C (p.Leu226Pro) n.1075T>C c.620T>C (p.Leu207Pro) c.364T>C n.866T>C c.914T>C (p.Leu305Pro) c.803T>C (p.Leu268Pro) c.755T>C (p.Leu252Pro) c.752T>C (p.Leu251Pro) c.806T>C (p.Leu269Pro) c.917T>C (p.Leu306Pro) c.946-211235T>C (n.946-211235T>C)
6	g.44230655T>G	CA364307012	POLR1C,SLC29A1	c.677T>G (p.Leu226Arg) n.1075T>G c.620T>G (p.Leu207Arg) c.364T>G n.866T>G c.914T>G (p.Leu305Arg) c.803T>G (p.Leu268Arg) c.755T>G (p.Leu252Arg) c.752T>G (p.Leu251Arg) c.806T>G (p.Leu269Arg) c.917T>G (p.Leu306Arg) c.946-211235T>G (n.946-211235T>G)	gnomAD v4
6	g.44230656G>A	CA450308586	POLR1C,SLC29A1	c.678G>A (p.Leu226=) n.1076G>A c.621G>A (p.Leu207=) c.365G>A n.867G>A c.915G>A (p.Leu305=) c.804G>A (p.Leu268=) c.756G>A (p.Leu252=) c.753G>A (p.Leu251=) c.807G>A (p.Leu269=) c.918G>A (p.Leu306=) c.946-211234G>A (n.946-211234G>A)
6	g.44230656G>C	CA450308587	POLR1C,SLC29A1	c.678G>C (p.Leu226=) n.1076G>C c.621G>C (p.Leu207=) c.365G>C n.867G>C c.915G>C (p.Leu305=) c.804G>C (p.Leu268=) c.756G>C (p.Leu252=) c.753G>C (p.Leu251=) c.807G>C (p.Leu269=) c.918G>C (p.Leu306=) c.946-211234G>C (n.946-211234G>C)
6	g.44230656G=	CA1624908577	POLR1C,SLC29A1	c.678G= (p.Leu226=) n.1076G= c.621G= (p.Leu207=) c.365G= n.867G= c.915G= (p.Leu305=) c.804G= (p.Leu268=) c.756G= (p.Leu252=) c.753G= (p.Leu251=) c.807G= (p.Leu269=) c.918G= (p.Leu306=) c.946-211234G= (n.946-211234G=)
6	g.44230656G>T	CA450308588	POLR1C,SLC29A1	c.678G>T (p.Leu226=) n.1076G>T c.621G>T (p.Leu207=) c.365G>T n.867G>T c.915G>T (p.Leu305=) c.804G>T (p.Leu268=) c.756G>T (p.Leu252=) c.753G>T (p.Leu251=) c.807G>T (p.Leu269=) c.918G>T (p.Leu306=) c.946-211234G>T (n.946-211234G>T)	dbSNP
6	g.44230657C>A	CA364307014	POLR1C,SLC29A1	c.679C>A (p.Pro227Thr) n.1077C>A c.622C>A (p.Pro208Thr) c.366C>A n.868C>A c.916C>A (p.Pro306Thr) c.805C>A (p.Pro269Thr) c.757C>A (p.Pro253Thr) c.754C>A (p.Pro252Thr) c.808C>A (p.Pro270Thr) c.919C>A (p.Pro307Thr) c.946-211233C>A (n.946-211233C>A)	gnomAD v4
6	g.44230657C=	CA1624908580	POLR1C,SLC29A1	c.679C= (p.Pro227=) n.1077C= c.622C= (p.Pro208=) c.366C= n.868C= c.916C= (p.Pro306=) c.805C= (p.Pro269=) c.757C= (p.Pro253=) c.754C= (p.Pro252=) c.808C= (p.Pro270=) c.919C= (p.Pro307=) c.946-211233C= (n.946-211233C=)
6	g.44230657C>G	CA364307015	POLR1C,SLC29A1	c.679C>G (p.Pro227Ala) n.1077C>G c.622C>G (p.Pro208Ala) c.366C>G n.868C>G c.916C>G (p.Pro306Ala) c.805C>G (p.Pro269Ala) c.757C>G (p.Pro253Ala) c.754C>G (p.Pro252Ala) c.808C>G (p.Pro270Ala) c.919C>G (p.Pro307Ala) c.946-211233C>G (n.946-211233C>G)
6	g.44230657C>T	CA3831639	POLR1C,SLC29A1	c.679C>T (p.Pro227Ser) n.1077C>T c.622C>T (p.Pro208Ser) c.366C>T n.868C>T c.916C>T (p.Pro306Ser) c.805C>T (p.Pro269Ser) c.757C>T (p.Pro253Ser) c.754C>T (p.Pro252Ser) c.808C>T (p.Pro270Ser) c.919C>T (p.Pro307Ser) c.946-211233C>T (n.946-211233C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.44230658C>A	CA364307027	POLR1C,SLC29A1	c.680C>A (p.Pro227His) n.1078C>A c.623C>A (p.Pro208His) c.367C>A n.869C>A c.917C>A (p.Pro306His) c.806C>A (p.Pro269His) c.758C>A (p.Pro253His) c.755C>A (p.Pro252His) c.809C>A (p.Pro270His) c.920C>A (p.Pro307His) c.946-211232C>A (n.946-211232C>A)	gnomAD v4
6	g.44230658C=	CA1624908584	POLR1C,SLC29A1	c.680C= (p.Pro227=) n.1078C= c.623C= (p.Pro208=) c.367C= n.869C= c.917C= (p.Pro306=) c.806C= (p.Pro269=) c.758C= (p.Pro253=) c.755C= (p.Pro252=) c.809C= (p.Pro270=) c.920C= (p.Pro307=) c.946-211232C= (n.946-211232C=)
6	g.44230658C>G	CA364307041	POLR1C,SLC29A1	c.680C>G (p.Pro227Arg) n.1078C>G c.623C>G (p.Pro208Arg) c.367C>G n.869C>G c.917C>G (p.Pro306Arg) c.806C>G (p.Pro269Arg) c.758C>G (p.Pro253Arg) c.755C>G (p.Pro252Arg) c.809C>G (p.Pro270Arg) c.920C>G (p.Pro307Arg) c.946-211232C>G (n.946-211232C>G)
6	g.44230658C>T	CA3831640	POLR1C,SLC29A1	c.680C>T (p.Pro227Leu) n.1078C>T c.623C>T (p.Pro208Leu) c.367C>T n.869C>T c.917C>T (p.Pro306Leu) c.806C>T (p.Pro269Leu) c.758C>T (p.Pro253Leu) c.755C>T (p.Pro252Leu) c.809C>T (p.Pro270Leu) c.920C>T (p.Pro307Leu) c.946-211232C>T (n.946-211232C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.44230659C>A	CA450308589	POLR1C,SLC29A1	c.681C>A (p.Pro227=) n.1079C>A c.624C>A (p.Pro208=) c.368C>A n.870C>A c.918C>A (p.Pro306=) c.807C>A (p.Pro269=) c.759C>A (p.Pro253=) c.756C>A (p.Pro252=) c.810C>A (p.Pro270=) c.921C>A (p.Pro307=) c.946-211231C>A (n.946-211231C>A)	gnomAD v4
6	g.44230659C>G	CA450308590	POLR1C,SLC29A1	c.681C>G (p.Pro227=) n.1079C>G c.624C>G (p.Pro208=) c.368C>G n.870C>G c.918C>G (p.Pro306=) c.807C>G (p.Pro269=) c.759C>G (p.Pro253=) c.756C>G (p.Pro252=) c.810C>G (p.Pro270=) c.921C>G (p.Pro307=) c.946-211231C>G (n.946-211231C>G)	gnomAD v4
6	g.44230659C>T	CA450308591	POLR1C,SLC29A1	c.681C>T (p.Pro227=) n.1079C>T c.624C>T (p.Pro208=) c.368C>T n.870C>T c.918C>T (p.Pro306=) c.807C>T (p.Pro269=) c.759C>T (p.Pro253=) c.756C>T (p.Pro252=) c.810C>T (p.Pro270=) c.921C>T (p.Pro307=) c.946-211231C>T (n.946-211231C>T)
6	g.44230660C>A	CA364307044	POLR1C,SLC29A1	c.682C>A (p.Arg228Ser) n.1080C>A c.625C>A (p.Arg209Ser) c.369C>A n.871C>A c.919C>A (p.Arg307Ser) c.808C>A (p.Arg270Ser) c.760C>A (p.Arg254Ser) c.757C>A (p.Arg253Ser) c.811C>A (p.Arg271Ser) c.922C>A (p.Arg308Ser) c.946-211230C>A (n.946-211230C>A)	gnomAD v4
6	g.44230660C=	CA1624908594	POLR1C,SLC29A1	c.682C= (p.Arg228=) n.1080C= c.625C= (p.Arg209=) c.369C= n.871C= c.919C= (p.Arg307=) c.808C= (p.Arg270=) c.760C= (p.Arg254=) c.757C= (p.Arg253=) c.811C= (p.Arg271=) c.922C= (p.Arg308=) c.946-211230C= (n.946-211230C=)
6	g.44230660C>G	CA364307048	POLR1C,SLC29A1	c.682C>G (p.Arg228Gly) n.1080C>G c.625C>G (p.Arg209Gly) c.369C>G n.871C>G c.919C>G (p.Arg307Gly) c.808C>G (p.Arg270Gly) c.760C>G (p.Arg254Gly) c.757C>G (p.Arg253Gly) c.811C>G (p.Arg271Gly) c.922C>G (p.Arg308Gly) c.946-211230C>G (n.946-211230C>G)
6	g.44230660C>T	CA3831641	POLR1C,SLC29A1	c.682C>T (p.Arg228Cys) n.1080C>T c.625C>T (p.Arg209Cys) c.369C>T n.871C>T c.919C>T (p.Arg307Cys) c.808C>T (p.Arg270Cys) c.760C>T (p.Arg254Cys) c.757C>T (p.Arg253Cys) c.811C>T (p.Arg271Cys) c.922C>T (p.Arg308Cys) c.946-211230C>T (n.946-211230C>T)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6	g.44230661G>A	CA138375372	POLR1C,SLC29A1	c.683G>A (p.Arg228His) n.1081G>A c.626G>A (p.Arg209His) c.370G>A n.872G>A c.920G>A (p.Arg307His) c.809G>A (p.Arg270His) c.761G>A (p.Arg254His) c.758G>A (p.Arg253His) c.812G>A (p.Arg271His) c.923G>A (p.Arg308His) c.946-211229G>A (n.946-211229G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6	g.44230661G>C	CA364307059	POLR1C,SLC29A1	c.683G>C (p.Arg228Pro) n.1081G>C c.626G>C (p.Arg209Pro) c.370G>C n.872G>C c.920G>C (p.Arg307Pro) c.809G>C (p.Arg270Pro) c.761G>C (p.Arg254Pro) c.758G>C (p.Arg253Pro) c.812G>C (p.Arg271Pro) c.923G>C (p.Arg308Pro) c.946-211229G>C (n.946-211229G>C)
6	g.44230661G=	CA1624908599	POLR1C,SLC29A1	c.683G= (p.Arg228=) n.1081G= c.626G= (p.Arg209=) c.370G= n.872G= c.920G= (p.Arg307=) c.809G= (p.Arg270=) c.761G= (p.Arg254=) c.758G= (p.Arg253=) c.812G= (p.Arg271=) c.923G= (p.Arg308=) c.946-211229G= (n.946-211229G=)
6	g.44230661G>T	CA364307060	POLR1C,SLC29A1	c.683G>T (p.Arg228Leu) n.1081G>T c.626G>T (p.Arg209Leu) c.370G>T n.872G>T c.920G>T (p.Arg307Leu) c.809G>T (p.Arg270Leu) c.761G>T (p.Arg254Leu) c.758G>T (p.Arg253Leu) c.812G>T (p.Arg271Leu) c.923G>T (p.Arg308Leu) c.946-211229G>T (n.946-211229G>T)
6	g.44230662C>A	CA450308593	POLR1C,SLC29A1	c.684C>A (p.Arg228=) n.1082C>A c.627C>A (p.Arg209=) c.371C>A n.873C>A c.921C>A (p.Arg307=) c.810C>A (p.Arg270=) c.762C>A (p.Arg254=) c.759C>A (p.Arg253=) c.813C>A (p.Arg271=) c.924C>A (p.Arg308=) c.946-211228C>A (n.946-211228C>A)	gnomAD v4
6	g.44230662C>G	CA450308594	POLR1C,SLC29A1	c.684C>G (p.Arg228=) n.1082C>G c.627C>G (p.Arg209=) c.371C>G n.873C>G c.921C>G (p.Arg307=) c.810C>G (p.Arg270=) c.762C>G (p.Arg254=) c.759C>G (p.Arg253=) c.813C>G (p.Arg271=) c.924C>G (p.Arg308=) c.946-211228C>G (n.946-211228C>G)	dbSNP
6	g.44230662C>T	CA450308592	POLR1C,SLC29A1	c.684C>T (p.Arg228=) n.1082C>T c.627C>T (p.Arg209=) c.371C>T n.873C>T c.921C>T (p.Arg307=) c.810C>T (p.Arg270=) c.762C>T (p.Arg254=) c.759C>T (p.Arg253=) c.813C>T (p.Arg271=) c.924C>T (p.Arg308=) c.946-211228C>T (n.946-211228C>T)
6	g.44230663C>A	CA364307061	POLR1C,SLC29A1	c.685C>A (p.Leu229Met) n.1083C>A c.628C>A (p.Leu210Met) c.372C>A n.874C>A c.922C>A (p.Leu308Met) c.811C>A (p.Leu271Met) c.763C>A (p.Leu255Met) c.760C>A (p.Leu254Met) c.814C>A (p.Leu272Met) c.925C>A (p.Leu309Met) c.946-211227C>A (n.946-211227C>A)
6	g.44230663C>G	CA364307064	POLR1C,SLC29A1	c.685C>G (p.Leu229Val) n.1083C>G c.628C>G (p.Leu210Val) c.372C>G n.874C>G c.922C>G (p.Leu308Val) c.811C>G (p.Leu271Val) c.763C>G (p.Leu255Val) c.760C>G (p.Leu254Val) c.814C>G (p.Leu272Val) c.925C>G (p.Leu309Val) c.946-211227C>G (n.946-211227C>G)
6	g.44230663C>T	CA450308595	POLR1C,SLC29A1	c.685C>T (p.Leu229=) n.1083C>T c.628C>T (p.Leu210=) c.372C>T n.874C>T c.922C>T (p.Leu308=) c.811C>T (p.Leu271=) c.763C>T (p.Leu255=) c.760C>T (p.Leu254=) c.814C>T (p.Leu272=) c.925C>T (p.Leu309=) c.946-211227C>T (n.946-211227C>T)
6	g.44230664T>A	CA364307067	POLR1C,SLC29A1	c.686T>A (p.Leu229Gln) n.1084T>A c.629T>A (p.Leu210Gln) c.373T>A n.875T>A c.923T>A (p.Leu308Gln) c.812T>A (p.Leu271Gln) c.764T>A (p.Leu255Gln) c.761T>A (p.Leu254Gln) c.815T>A (p.Leu272Gln) c.926T>A (p.Leu309Gln) c.946-211226T>A (n.946-211226T>A)
6	g.44230664T>C	CA364307069	POLR1C,SLC29A1	c.686T>C (p.Leu229Pro) n.1084T>C c.629T>C (p.Leu210Pro) c.373T>C n.875T>C c.923T>C (p.Leu308Pro) c.812T>C (p.Leu271Pro) c.764T>C (p.Leu255Pro) c.761T>C (p.Leu254Pro) c.815T>C (p.Leu272Pro) c.926T>C (p.Leu309Pro) c.946-211226T>C (n.946-211226T>C)
6	g.44230664T>G	CA364307073	POLR1C,SLC29A1	c.686T>G (p.Leu229Arg) n.1084T>G c.629T>G (p.Leu210Arg) c.373T>G n.875T>G c.923T>G (p.Leu308Arg) c.812T>G (p.Leu271Arg) c.764T>G (p.Leu255Arg) c.761T>G (p.Leu254Arg) c.815T>G (p.Leu272Arg) c.926T>G (p.Leu309Arg) c.946-211226T>G (n.946-211226T>G)
6	g.44230665G>A	CA3831642	POLR1C,SLC29A1	c.687G>A (p.Leu229=) n.1085G>A c.630G>A (p.Leu210=) c.374G>A n.876G>A c.924G>A (p.Leu308=) c.813G>A (p.Leu271=) c.765G>A (p.Leu255=) c.762G>A (p.Leu254=) c.816G>A (p.Leu272=) c.927G>A (p.Leu309=) c.946-211225G>A (n.946-211225G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.44230665G>C	CA450308596	POLR1C,SLC29A1	c.687G>C (p.Leu229=) n.1085G>C c.630G>C (p.Leu210=) c.374G>C n.876G>C c.924G>C (p.Leu308=) c.813G>C (p.Leu271=) c.765G>C (p.Leu255=) c.762G>C (p.Leu254=) c.816G>C (p.Leu272=) c.927G>C (p.Leu309=) c.946-211225G>C (n.946-211225G>C)
6	g.44230665G=	CA1624908604	POLR1C,SLC29A1	c.687G= (p.Leu229=) n.1085G= c.630G= (p.Leu210=) c.374G= n.876G= c.924G= (p.Leu308=) c.813G= (p.Leu271=) c.765G= (p.Leu255=) c.762G= (p.Leu254=) c.816G= (p.Leu272=) c.927G= (p.Leu309=) c.946-211225G= (n.946-211225G=)
6	g.44230665G>T	CA450308597	POLR1C,SLC29A1	c.687G>T (p.Leu229=) n.1085G>T c.630G>T (p.Leu210=) c.374G>T n.876G>T c.924G>T (p.Leu308=) c.813G>T (p.Leu271=) c.765G>T (p.Leu255=) c.762G>T (p.Leu254=) c.816G>T (p.Leu272=) c.927G>T (p.Leu309=) c.946-211225G>T (n.946-211225G>T)
6	g.44230667_44230811del	CA2678935218	POLR1C,SLC29A1	c.687+2_688del n.1085+2_1086del c.374+2_375del n.876+2_877del c.924+2_925del c.813+2_814del c.765+2_766del c.762+2_763del c.816+2_817del c.927+2_928del c.946-211223_946-211079del (n.946-211223_946-211079del)	gnomAD v4
6	g.44230666G>A	CA364307087	POLR1C,SLC29A1	c.687+1G>A (n.687+1G>A) n.1085+1G>A c.374+1G>A n.876+1G>A c.924+1G>A (n.924+1G>A) c.813+1G>A (n.813+1G>A) c.765+1G>A (n.765+1G>A) c.762+1G>A (n.762+1G>A) c.816+1G>A (n.816+1G>A) c.927+1G>A (n.927+1G>A) c.946-211224G>A (n.946-211224G>A)
6	g.44230666G>C	CA364307079	POLR1C,SLC29A1	c.687+1G>C (n.687+1G>C) n.1085+1G>C c.374+1G>C n.876+1G>C c.924+1G>C (n.924+1G>C) c.813+1G>C (n.813+1G>C) c.765+1G>C (n.765+1G>C) c.762+1G>C (n.762+1G>C) c.816+1G>C (n.816+1G>C) c.927+1G>C (n.927+1G>C) c.946-211224G>C (n.946-211224G>C)
6	g.44230666G=	CA1624908606	POLR1C,SLC29A1	c.687+1G= (n.687+1G=) n.1085+1G= c.374+1G= n.876+1G= c.924+1G= (n.924+1G=) c.813+1G= (n.813+1G=) c.765+1G= (n.765+1G=) c.762+1G= (n.762+1G=) c.816+1G= (n.816+1G=) c.927+1G= (n.927+1G=) c.946-211224G= (n.946-211224G=)
6	g.44230666G>T	CA364307084	POLR1C,SLC29A1	c.687+1G>T (n.687+1G>T) n.1085+1G>T c.374+1G>T n.876+1G>T c.924+1G>T (n.924+1G>T) c.813+1G>T (n.813+1G>T) c.765+1G>T (n.765+1G>T) c.762+1G>T (n.762+1G>T) c.816+1G>T (n.816+1G>T) c.927+1G>T (n.927+1G>T) c.946-211224G>T (n.946-211224G>T)	dbSNP gnomAD v2 gnomAD v4
6	g.44230667T>A	CA364307089	POLR1C,SLC29A1	c.687+2T>A (n.687+2T>A) n.1085+2T>A c.374+2T>A n.876+2T>A c.924+2T>A (n.924+2T>A) c.813+2T>A (n.813+2T>A) c.765+2T>A (n.765+2T>A) c.762+2T>A (n.762+2T>A) c.816+2T>A (n.816+2T>A) c.927+2T>A (n.927+2T>A) c.946-211223T>A (n.946-211223T>A)
6	g.44230667T>C	CA364307090	POLR1C,SLC29A1	c.687+2T>C (n.687+2T>C) n.1085+2T>C c.374+2T>C n.876+2T>C c.924+2T>C (n.924+2T>C) c.813+2T>C (n.813+2T>C) c.765+2T>C (n.765+2T>C) c.762+2T>C (n.762+2T>C) c.816+2T>C (n.816+2T>C) c.927+2T>C (n.927+2T>C) c.946-211223T>C (n.946-211223T>C)	gnomAD v4
6	g.44230667T>G	CA364307091	POLR1C,SLC29A1	c.687+2T>G (n.687+2T>G) n.1085+2T>G c.374+2T>G n.876+2T>G c.924+2T>G (n.924+2T>G) c.813+2T>G (n.813+2T>G) c.765+2T>G (n.765+2T>G) c.762+2T>G (n.762+2T>G) c.816+2T>G (n.816+2T>G) c.927+2T>G (n.927+2T>G) c.946-211223T>G (n.946-211223T>G)
6	g.44230668G>C	CA2678935219	POLR1C,SLC29A1	c.687+3G>C (n.687+3G>C) n.1085+3G>C c.374+3G>C n.876+3G>C c.924+3G>C (n.924+3G>C) c.813+3G>C (n.813+3G>C) c.765+3G>C (n.765+3G>C) c.762+3G>C (n.762+3G>C) c.816+3G>C (n.816+3G>C) c.927+3G>C (n.927+3G>C) c.946-211222G>C (n.946-211222G>C)	gnomAD v4
6	g.44230668G>T	CA2678935220	POLR1C,SLC29A1	c.687+3G>T (n.687+3G>T) n.1085+3G>T c.374+3G>T n.876+3G>T c.924+3G>T (n.924+3G>T) c.813+3G>T (n.813+3G>T) c.765+3G>T (n.765+3G>T) c.762+3G>T (n.762+3G>T) c.816+3G>T (n.816+3G>T) c.927+3G>T (n.927+3G>T) c.946-211222G>T (n.946-211222G>T)	gnomAD v4
6	g.44230669A>G	CA2678935221	POLR1C,SLC29A1	c.687+4A>G (n.687+4A>G) n.1085+4A>G c.374+4A>G n.876+4A>G c.924+4A>G (n.924+4A>G) c.813+4A>G (n.813+4A>G) c.765+4A>G (n.765+4A>G) c.762+4A>G (n.762+4A>G) c.816+4A>G (n.816+4A>G) c.927+4A>G (n.927+4A>G) c.946-211221A>G (n.946-211221A>G)	gnomAD v4
6	g.44230669A>T	CA2565139241	POLR1C,SLC29A1	c.687+4A>T (n.687+4A>T) n.1085+4A>T c.374+4A>T n.876+4A>T c.924+4A>T (n.924+4A>T) c.813+4A>T (n.813+4A>T) c.765+4A>T (n.765+4A>T) c.762+4A>T (n.762+4A>T) c.816+4A>T (n.816+4A>T) c.927+4A>T (n.927+4A>T) c.946-211221A>T (n.946-211221A>T)
6	g.44230670G>A	CA2678935222	POLR1C,SLC29A1	c.687+5G>A (n.687+5G>A) n.1085+5G>A c.374+5G>A n.876+5G>A c.924+5G>A (n.924+5G>A) c.813+5G>A (n.813+5G>A) c.765+5G>A (n.765+5G>A) c.762+5G>A (n.762+5G>A) c.816+5G>A (n.816+5G>A) c.927+5G>A (n.927+5G>A) c.946-211220G>A (n.946-211220G>A)	gnomAD v4
6	g.44230670G>C	CA1624908610	POLR1C,SLC29A1	c.687+5G>C (n.687+5G>C) n.1085+5G>C c.374+5G>C n.876+5G>C c.924+5G>C (n.924+5G>C) c.813+5G>C (n.813+5G>C) c.765+5G>C (n.765+5G>C) c.762+5G>C (n.762+5G>C) c.816+5G>C (n.816+5G>C) c.927+5G>C (n.927+5G>C) c.946-211220G>C (n.946-211220G>C)	dbSNP
6	g.44230670G=	CA1624908609	POLR1C,SLC29A1	c.687+5G= (n.687+5G=) n.1085+5G= c.374+5G= n.876+5G= c.924+5G= (n.924+5G=) c.813+5G= (n.813+5G=) c.765+5G= (n.765+5G=) c.762+5G= (n.762+5G=) c.816+5G= (n.816+5G=) c.927+5G= (n.927+5G=) c.946-211220G= (n.946-211220G=)
6	g.44230670G>T	CA2678935223	POLR1C,SLC29A1	c.687+5G>T (n.687+5G>T) n.1085+5G>T c.374+5G>T n.876+5G>T c.924+5G>T (n.924+5G>T) c.813+5G>T (n.813+5G>T) c.765+5G>T (n.765+5G>T) c.762+5G>T (n.762+5G>T) c.816+5G>T (n.816+5G>T) c.927+5G>T (n.927+5G>T) c.946-211220G>T (n.946-211220G>T)	gnomAD v4

Number of alleles fetched