Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.86040389C>A	CA2577023392	POLR1A	c.3740+3G>T (n.3740+3G>T) n.128+3G>T c.3416+3G>T (n.3416+3G>T)	gnomAD v4
2	g.86040389C>T	CA2699965892	POLR1A	c.3740+3G>A (n.3740+3G>A) n.128+3G>A c.3416+3G>A (n.3416+3G>A)	dbSNP
2	g.86040390A>C	CA347552020	POLR1A	c.3740+2T>G (n.3740+2T>G) n.128+2T>G c.3416+2T>G (n.3416+2T>G)
2	g.86040390A>G	CA347552022	POLR1A	c.3740+2T>C (n.3740+2T>C) n.128+2T>C c.3416+2T>C (n.3416+2T>C)
2	g.86040390A>T	CA347552025	POLR1A	c.3740+2T>A (n.3740+2T>A) n.128+2T>A c.3416+2T>A (n.3416+2T>A)
2	g.86040391C>A	CA347552033	POLR1A	c.3740+1G>T (n.3740+1G>T) n.128+1G>T c.3416+1G>T (n.3416+1G>T)
2	g.86040391C>G	CA347552031	POLR1A	c.3740+1G>C (n.3740+1G>C) n.128+1G>C c.3416+1G>C (n.3416+1G>C)
2	g.86040391C>T	CA347552029	POLR1A	c.3740+1G>A (n.3740+1G>A) n.128+1G>A c.3416+1G>A (n.3416+1G>A)
2	g.86040392C>A	CA347552036	POLR1A	c.3740G>T (p.Arg1247Met) n.128G>T c.3416G>T (p.Arg1139Met)	gnomAD v4
2	g.86040392C>G	CA347552038	POLR1A	c.3740G>C (p.Arg1247Thr) n.128G>C c.3416G>C (p.Arg1139Thr)	gnomAD v4
2	g.86040392C>T	CA347552040	POLR1A	c.3740G>A (p.Arg1247Lys) n.128G>A c.3416G>A (p.Arg1139Lys)
2	g.86040393T>A	CA347552043	POLR1A	c.3739A>T (p.Arg1247Trp) n.127A>T c.3415A>T (p.Arg1139Trp)
2	g.86040393T>C	CA347552045	POLR1A	c.3739A>G (p.Arg1247Gly) n.127A>G c.3415A>G (p.Arg1139Gly)	gnomAD v4
2	g.86040393T>G	CA427148235	POLR1A	c.3739A>C (p.Arg1247=) n.127A>C c.3415A>C (p.Arg1139=)
2	g.86040394T>A	CA427148239	POLR1A	c.3738A>T (p.Pro1246=) n.126A>T c.3414A>T (p.Pro1138=)
2	g.86040394T>C	CA427148238	POLR1A	c.3738A>G (p.Pro1246=) n.126A>G c.3414A>G (p.Pro1138=)	dbSNP gnomAD v4
2	g.86040394T>G	CA427148237	POLR1A	c.3738A>C (p.Pro1246=) n.126A>C c.3414A>C (p.Pro1138=)
2	g.86040394T=	CA1267045757	POLR1A	c.3738A= (p.Pro1246=) n.126A= c.3414A= (p.Pro1138=)
2	g.86040395G>A	CA347552048	POLR1A	c.3737C>T (p.Pro1246Leu) n.125C>T c.3413C>T (p.Pro1138Leu)
2	g.86040395G>C	CA347552050	POLR1A	c.3737C>G (p.Pro1246Arg) n.125C>G c.3413C>G (p.Pro1138Arg)
2	g.86040395G>T	CA347552052	POLR1A	c.3737C>A (p.Pro1246Gln) n.125C>A c.3413C>A (p.Pro1138Gln)
2	g.86040396G>A	CA347552056	POLR1A	c.3736C>T (p.Pro1246Ser) n.124C>T c.3412C>T (p.Pro1138Ser)
2	g.86040396G>C	CA347552057	POLR1A	c.3736C>G (p.Pro1246Ala) n.124C>G c.3412C>G (p.Pro1138Ala)
2	g.86040396G>T	CA347552060	POLR1A	c.3736C>A (p.Pro1246Thr) n.124C>A c.3412C>A (p.Pro1138Thr)
2	g.86040397A>C	CA347552062	POLR1A	c.3735T>G (p.Ile1245Met) n.123T>G c.3411T>G (p.Ile1137Met)
2	g.86040397A>G	CA427148242	POLR1A	c.3735T>C (p.Ile1245=) n.123T>C c.3411T>C (p.Ile1137=)
2	g.86040397A>T	CA427148241	POLR1A	c.3735T>A (p.Ile1245=) n.123T>A c.3411T>A (p.Ile1137=)
2	g.86040398A>C	CA347552067	POLR1A	c.3734T>G (p.Ile1245Ser) n.122T>G c.3410T>G (p.Ile1137Ser)
2	g.86040398A>G	CA347552069	POLR1A	c.3734T>C (p.Ile1245Thr) n.122T>C c.3410T>C (p.Ile1137Thr)
2	g.86040398A>T	CA347552066	POLR1A	c.3734T>A (p.Ile1245Asn) n.122T>A c.3410T>A (p.Ile1137Asn)
2	g.86040399T>A	CA347552072	POLR1A	c.3733A>T (p.Ile1245Phe) n.121A>T c.3409A>T (p.Ile1137Phe)
2	g.86040399T>C	CA347552074	POLR1A	c.3733A>G (p.Ile1245Val) n.121A>G c.3409A>G (p.Ile1137Val)	gnomAD v4
2	g.86040399T>G	CA347552076	POLR1A	c.3733A>C (p.Ile1245Leu) n.121A>C c.3409A>C (p.Ile1137Leu)
2	g.86040400G>A	CA427148244	POLR1A	c.3732C>T (p.Gly1244=) n.120C>T c.3408C>T (p.Gly1136=)
2	g.86040400G>C	CA427148243	POLR1A	c.3732C>G (p.Gly1244=) n.120C>G c.3408C>G (p.Gly1136=)
2	g.86040400G=	CA1267045758	POLR1A	c.3732C= (p.Gly1244=) n.120C= c.3408C= (p.Gly1136=)
2	g.86040400G>T	CA1745707	POLR1A	c.3732C>A (p.Gly1244=) n.120C>A c.3408C>A (p.Gly1136=)	dbSNP ExAC gnomAD v2
2	g.86040401C>A	CA347552082	POLR1A	c.3731G>T (p.Gly1244Val) n.119G>T c.3407G>T (p.Gly1136Val)	gnomAD v4
2	g.86040401C>G	CA347552084	POLR1A	c.3731G>C (p.Gly1244Ala) n.119G>C c.3407G>C (p.Gly1136Ala)
2	g.86040401C>T	CA347552086	POLR1A	c.3731G>A (p.Gly1244Asp) n.119G>A c.3407G>A (p.Gly1136Asp)
2	g.86040403del	CA2659905221	POLR1A	c.3731del (p.Gly1244AlafsTer20) n.119del c.3407del (p.Gly1136AlafsTer20)	gnomAD v4
2	g.86040402C>A	CA347552090	POLR1A	c.3730G>T (p.Gly1244Cys) n.118G>T c.3406G>T (p.Gly1136Cys)
2	g.86040402C>G	CA347552091	POLR1A	c.3730G>C (p.Gly1244Arg) n.118G>C c.3406G>C (p.Gly1136Arg)
2	g.86040402C>T	CA347552092	POLR1A	c.3730G>A (p.Gly1244Ser) n.118G>A c.3406G>A (p.Gly1136Ser)
2	g.86040403C>A	CA427148247	POLR1A	c.3729G>T (p.Leu1243=) n.117G>T c.3405G>T (p.Leu1135=)	dbSNP gnomAD v4
2	g.86040403C=	CA1267045759	POLR1A	c.3729G= (p.Leu1243=) n.117G= c.3405G= (p.Leu1135=)
2	g.86040403C>G	CA427148246	POLR1A	c.3729G>C (p.Leu1243=) n.117G>C c.3405G>C (p.Leu1135=)
2	g.86040403C>T	CA427148245	POLR1A	c.3729G>A (p.Leu1243=) n.117G>A c.3405G>A (p.Leu1135=)
2	g.86040404A>C	CA347552093	POLR1A	c.3728T>G (p.Leu1243Arg) n.116T>G c.3404T>G (p.Leu1135Arg)
2	g.86040404A>G	CA347552094	POLR1A	c.3728T>C (p.Leu1243Pro) n.116T>C c.3404T>C (p.Leu1135Pro)
2	g.86040404A>T	CA347552095	POLR1A	c.3728T>A (p.Leu1243Gln) n.116T>A c.3404T>A (p.Leu1135Gln)
2	g.86040405G>A	CA427148248	POLR1A	c.3727C>T (p.Leu1243=) n.115C>T c.3403C>T (p.Leu1135=)
2	g.86040405G>C	CA347552098	POLR1A	c.3727C>G (p.Leu1243Val) n.115C>G c.3403C>G (p.Leu1135Val)
2	g.86040405G>T	CA347552097	POLR1A	c.3727C>A (p.Leu1243Met) n.115C>A c.3403C>A (p.Leu1135Met)
2	g.86040406G>A	CA427148251	POLR1A	c.3726C>T (p.Thr1242=) n.114C>T c.3402C>T (p.Thr1134=)	ClinVar gnomAD v4
2	g.86040406G>C	CA427148250	POLR1A	c.3726C>G (p.Thr1242=) n.114C>G c.3402C>G (p.Thr1134=)	gnomAD v4
2	g.86040406G>T	CA427148249	POLR1A	c.3726C>A (p.Thr1242=) n.114C>A c.3402C>A (p.Thr1134=)
2	g.86040407G>A	CA347552099	POLR1A	c.3725C>T (p.Thr1242Ile) n.113C>T c.3401C>T (p.Thr1134Ile)
2	g.86040407G>C	CA347552100	POLR1A	c.3725C>G (p.Thr1242Ser) n.113C>G c.3401C>G (p.Thr1134Ser)
2	g.86040407G>T	CA347552101	POLR1A	c.3725C>A (p.Thr1242Asn) n.113C>A c.3401C>A (p.Thr1134Asn)
2	g.86040408T>A	CA347552102	POLR1A	c.3724A>T (p.Thr1242Ser) n.112A>T c.3400A>T (p.Thr1134Ser)
2	g.86040408T>C	CA347552103	POLR1A	c.3724A>G (p.Thr1242Ala) n.112A>G c.3400A>G (p.Thr1134Ala)
2	g.86040408T>G	CA347552104	POLR1A	c.3724A>C (p.Thr1242Pro) n.112A>C c.3400A>C (p.Thr1134Pro)
2	g.86040409G>A	CA1745708	POLR1A	c.3723C>T (p.Val1241=) n.111C>T c.3399C>T (p.Val1133=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.86040409G>C	CA427148253	POLR1A	c.3723C>G (p.Val1241=) n.111C>G c.3399C>G (p.Val1133=)
2	g.86040409G=	CA1267045760	POLR1A	c.3723C= (p.Val1241=) n.111C= c.3399C= (p.Val1133=)
2	g.86040409G>T	CA427148252	POLR1A	c.3723C>A (p.Val1241=) n.111C>A c.3399C>A (p.Val1133=)
2	g.86040410A>C	CA347552105	POLR1A	c.3722T>G (p.Val1241Gly) n.110T>G c.3398T>G (p.Val1133Gly)
2	g.86040410A>G	CA347552106	POLR1A	c.3722T>C (p.Val1241Ala) n.110T>C c.3398T>C (p.Val1133Ala)
2	g.86040410A>T	CA347552108	POLR1A	c.3722T>A (p.Val1241Asp) n.110T>A c.3398T>A (p.Val1133Asp)
2	g.86040411C>A	CA347552111	POLR1A	c.3721G>T (p.Val1241Phe) n.109G>T c.3397G>T (p.Val1133Phe)	gnomAD v4
2	g.86040411C>G	CA347552113	POLR1A	c.3721G>C (p.Val1241Leu) n.109G>C c.3397G>C (p.Val1133Leu)
2	g.86040411C>T	CA347552116	POLR1A	c.3721G>A (p.Val1241Ile) n.109G>A c.3397G>A (p.Val1133Ile)	gnomAD v4
2	g.86040412G>A	CA1745709	POLR1A	c.3720C>T (p.Asn1240=) n.108C>T c.3396C>T (p.Asn1132=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.86040412G>C	CA347552121	POLR1A	c.3720C>G (p.Asn1240Lys) n.108C>G c.3396C>G (p.Asn1132Lys)
2	g.86040412G=	CA1267045761	POLR1A	c.3720C= (p.Asn1240=) n.108C= c.3396C= (p.Asn1132=)
2	g.86040412G>T	CA347552119	POLR1A	c.3720C>A (p.Asn1240Lys) n.108C>A c.3396C>A (p.Asn1132Lys)
2	g.86040413T>A	CA347552125	POLR1A	c.3719A>T (p.Asn1240Ile) n.107A>T c.3395A>T (p.Asn1132Ile)
2	g.86040413T>C	CA347552129	POLR1A	c.3719A>G (p.Asn1240Ser) n.107A>G c.3395A>G (p.Asn1132Ser)
2	g.86040413T>G	CA347552127	POLR1A	c.3719A>C (p.Asn1240Thr) n.107A>C c.3395A>C (p.Asn1132Thr)
2	g.86040414T>A	CA347552133	POLR1A	c.3718A>T (p.Asn1240Tyr) n.106A>T c.3394A>T (p.Asn1132Tyr)
2	g.86040414T>C	CA347552136	POLR1A	c.3718A>G (p.Asn1240Asp) n.106A>G c.3394A>G (p.Asn1132Asp)
2	g.86040414T>G	CA347552138	POLR1A	c.3718A>C (p.Asn1240His) n.106A>C c.3394A>C (p.Asn1132His)
2	g.86040415C>A	CA347552141	POLR1A	c.3717G>T (p.Met1239Ile) n.105G>T c.3393G>T (p.Met1131Ile)
2	g.86040415C>G	CA347552143	POLR1A	c.3717G>C (p.Met1239Ile) n.105G>C c.3393G>C (p.Met1131Ile)
2	g.86040415C>T	CA347552146	POLR1A	c.3717G>A (p.Met1239Ile) n.105G>A c.3393G>A (p.Met1131Ile)
2	g.86040416A>C	CA347552149	POLR1A	c.3716T>G (p.Met1239Arg) n.104T>G c.3392T>G (p.Met1131Arg)
2	g.86040416A>G	CA347552151	POLR1A	c.3716T>C (p.Met1239Thr) n.104T>C c.3392T>C (p.Met1131Thr)
2	g.86040416A>T	CA347552153	POLR1A	c.3716T>A (p.Met1239Lys) n.104T>A c.3392T>A (p.Met1131Lys)
2	g.86040417T>A	CA347552156	POLR1A	c.3715A>T (p.Met1239Leu) n.103A>T c.3391A>T (p.Met1131Leu)
2	g.86040417T>C	CA347552158	POLR1A	c.3715A>G (p.Met1239Val) n.103A>G c.3391A>G (p.Met1131Val)	gnomAD v4
2	g.86040417T>G	CA347552161	POLR1A	c.3715A>C (p.Met1239Leu) n.103A>C c.3391A>C (p.Met1131Leu)
2	g.86040418C>A	CA347552164	POLR1A	c.3714G>T (p.Glu1238Asp) n.102G>T c.3390G>T (p.Glu1130Asp)
2	g.86040418C=	CA1267045762	POLR1A	c.3714G= (p.Glu1238=) n.102G= c.3390G= (p.Glu1130=)
2	g.86040418C>G	CA347552168	POLR1A	c.3714G>C (p.Glu1238Asp) n.102G>C c.3390G>C (p.Glu1130Asp)
2	g.86040418C>T	CA1745710	POLR1A	c.3714G>A (p.Glu1238=) n.102G>A c.3390G>A (p.Glu1130=)	dbSNP ExAC gnomAD v3 gnomAD v4
2	g.86040419T>A	CA347552171	POLR1A	c.3713A>T (p.Glu1238Val) n.101A>T c.3389A>T (p.Glu1130Val)
2	g.86040419T>C	CA347552173	POLR1A	c.3713A>G (p.Glu1238Gly) n.101A>G c.3389A>G (p.Glu1130Gly)
2	g.86040419T>G	CA347552175	POLR1A	c.3713A>C (p.Glu1238Ala) n.101A>C c.3389A>C (p.Glu1130Ala)
2	g.86040420C>A	CA347552178	POLR1A	c.3712G>T (p.Glu1238Ter) n.100G>T c.3388G>T (p.Glu1130Ter)	dbSNP gnomAD v4
2	g.86040420C=	CA1267045763	POLR1A	c.3712G= (p.Glu1238=) n.100G= c.3388G= (p.Glu1130=)
2	g.86040420C>G	CA347552180	POLR1A	c.3712G>C (p.Glu1238Gln) n.100G>C c.3388G>C (p.Glu1130Gln)
2	g.86040420C>T	CA347552182	POLR1A	c.3712G>A (p.Glu1238Lys) n.100G>A c.3388G>A (p.Glu1130Lys)
2	g.86040421G>A	CA51372216	POLR1A	c.3711C>T (p.Gly1237=) n.99C>T c.3387C>T (p.Gly1129=)	dbSNP gnomAD v4
2	g.86040421G>C	CA427148254	POLR1A	c.3711C>G (p.Gly1237=) n.99C>G c.3387C>G (p.Gly1129=)
2	g.86040421G=	CA1267045764	POLR1A	c.3711C= (p.Gly1237=) n.99C= c.3387C= (p.Gly1129=)
2	g.86040421G>T	CA1745711	POLR1A	c.3711C>A (p.Gly1237=) n.99C>A c.3387C>A (p.Gly1129=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.86040422C>A	CA347552187	POLR1A	c.3710G>T (p.Gly1237Val) n.98G>T c.3386G>T (p.Gly1129Val)
2	g.86040422C>G	CA347552189	POLR1A	c.3710G>C (p.Gly1237Ala) n.98G>C c.3386G>C (p.Gly1129Ala)
2	g.86040422C>T	CA347552192	POLR1A	c.3710G>A (p.Gly1237Asp) n.98G>A c.3386G>A (p.Gly1129Asp)
2	g.86040423C>A	CA347552198	POLR1A	c.3709G>T (p.Gly1237Cys) n.97G>T c.3385G>T (p.Gly1129Cys)
2	g.86040423C>G	CA347552200	POLR1A	c.3709G>C (p.Gly1237Arg) n.97G>C c.3385G>C (p.Gly1129Arg)
2	g.86040423C>T	CA347552196	POLR1A	c.3709G>A (p.Gly1237Ser) n.97G>A c.3385G>A (p.Gly1129Ser)	gnomAD v4
2	g.86040424T>A	CA347552203	POLR1A	c.3708A>T (p.Arg1236Ser) n.96A>T c.3384A>T (p.Arg1128Ser)
2	g.86040424T>C	CA427148255	POLR1A	c.3708A>G (p.Arg1236=) n.96A>G c.3384A>G (p.Arg1128=)	dbSNP
2	g.86040424T>G	CA347552205	POLR1A	c.3708A>C (p.Arg1236Ser) n.96A>C c.3384A>C (p.Arg1128Ser)
2	g.86040424T=	CA1267045765	POLR1A	c.3708A= (p.Arg1236=) n.96A= c.3384A= (p.Arg1128=)
2	g.86040425C>A	CA347552208	POLR1A	c.3707G>T (p.Arg1236Ile) n.95G>T c.3383G>T (p.Arg1128Ile)
2	g.86040425C>G	CA347552210	POLR1A	c.3707G>C (p.Arg1236Thr) n.95G>C c.3383G>C (p.Arg1128Thr)
2	g.86040425C>T	CA347552212	POLR1A	c.3707G>A (p.Arg1236Lys) n.95G>A c.3383G>A (p.Arg1128Lys)	gnomAD v4
2	g.86040426T>A	CA347552215	POLR1A	c.3706A>T (p.Arg1236Ter) n.94A>T c.3382A>T (p.Arg1128Ter)
2	g.86040426T>C	CA347552217	POLR1A	c.3706A>G (p.Arg1236Gly) n.94A>G c.3382A>G (p.Arg1128Gly)
2	g.86040426T>G	CA427148256	POLR1A	c.3706A>C (p.Arg1236=) n.94A>C c.3382A>C (p.Arg1128=)
2	g.86040427G>A	CA427148259	POLR1A	c.3705C>T (p.Gly1235=) n.93C>T c.3381C>T (p.Gly1127=)	gnomAD v4
2	g.86040427G>C	CA427148258	POLR1A	c.3705C>G (p.Gly1235=) n.93C>G c.3381C>G (p.Gly1127=)	dbSNP gnomAD v2 gnomAD v4
2	g.86040427G=	CA1267045766	POLR1A	c.3705C= (p.Gly1235=) n.93C= c.3381C= (p.Gly1127=)
2	g.86040427G>T	CA427148257	POLR1A	c.3705C>A (p.Gly1235=) n.93C>A c.3381C>A (p.Gly1127=)
2	g.86040428C>A	CA347552220	POLR1A	c.3704G>T (p.Gly1235Val) n.92G>T c.3380G>T (p.Gly1127Val)
2	g.86040428C>G	CA347552223	POLR1A	c.3704G>C (p.Gly1235Ala) n.92G>C c.3380G>C (p.Gly1127Ala)
2	g.86040428C>T	CA347552225	POLR1A	c.3704G>A (p.Gly1235Asp) n.92G>A c.3380G>A (p.Gly1127Asp)	COSMIC
2	g.86040429C>A	CA347552229	POLR1A	c.3703G>T (p.Gly1235Cys) n.91G>T c.3379G>T (p.Gly1127Cys)
2	g.86040429C>G	CA347552231	POLR1A	c.3703G>C (p.Gly1235Arg) n.91G>C c.3379G>C (p.Gly1127Arg)
2	g.86040429C>T	CA347552233	POLR1A	c.3703G>A (p.Gly1235Ser) n.91G>A c.3379G>A (p.Gly1127Ser)
2	g.86040430T>A	CA427148264	POLR1A	c.3702A>T (p.Ala1234=) n.90A>T c.3378A>T (p.Ala1126=)
2	g.86040430T>C	CA427148263	POLR1A	c.3702A>G (p.Ala1234=) n.90A>G c.3378A>G (p.Ala1126=)
2	g.86040430T>G	CA427148262	POLR1A	c.3702A>C (p.Ala1234=) n.90A>C c.3378A>C (p.Ala1126=)
2	g.86040431G>A	CA347552242	POLR1A	c.3701C>T (p.Ala1234Val) n.89C>T c.3377C>T (p.Ala1126Val)
2	g.86040431G>C	CA347552240	POLR1A	c.3701C>G (p.Ala1234Gly) n.89C>G c.3377C>G (p.Ala1126Gly)
2	g.86040431G>T	CA347552237	POLR1A	c.3701C>A (p.Ala1234Glu) n.89C>A c.3377C>A (p.Ala1126Glu)
2	g.86040432C>A	CA347552245	POLR1A	c.3700G>T (p.Ala1234Ser) n.88G>T c.3376G>T (p.Ala1126Ser)
2	g.86040432C>G	CA347552247	POLR1A	c.3700G>C (p.Ala1234Pro) n.88G>C c.3376G>C (p.Ala1126Pro)
2	g.86040432C>T	CA347552249	POLR1A	c.3700G>A (p.Ala1234Thr) n.88G>A c.3376G>A (p.Ala1126Thr)
2	g.86040433A>C	CA347552251	POLR1A	c.3699T>G (p.Phe1233Leu) n.87T>G c.3375T>G (p.Phe1125Leu)
2	g.86040433A>G	CA427148265	POLR1A	c.3699T>C (p.Phe1233=) n.87T>C c.3375T>C (p.Phe1125=)
2	g.86040433A>T	CA347552254	POLR1A	c.3699T>A (p.Phe1233Leu) n.87T>A c.3375T>A (p.Phe1125Leu)
2	g.86040434A>C	CA347552257	POLR1A	c.3698T>G (p.Phe1233Cys) n.86T>G c.3374T>G (p.Phe1125Cys)
2	g.86040434A>G	CA347552259	POLR1A	c.3698T>C (p.Phe1233Ser) n.86T>C c.3374T>C (p.Phe1125Ser)
2	g.86040434A>T	CA347552261	POLR1A	c.3698T>A (p.Phe1233Tyr) n.86T>A c.3374T>A (p.Phe1125Tyr)
2	g.86040435A>C	CA347552264	POLR1A	c.3697T>G (p.Phe1233Val) n.85T>G c.3373T>G (p.Phe1125Val)
2	g.86040435A>G	CA347552266	POLR1A	c.3697T>C (p.Phe1233Leu) n.85T>C c.3373T>C (p.Phe1125Leu)
2	g.86040435A>T	CA347552268	POLR1A	c.3697T>A (p.Phe1233Ile) n.85T>A c.3373T>A (p.Phe1125Ile)
2	g.86040436G>A	CA427148266	POLR1A	c.3696C>T (p.His1232=) n.84C>T c.3372C>T (p.His1124=)
2	g.86040436G>C	CA347552271	POLR1A	c.3696C>G (p.His1232Gln) n.84C>G c.3372C>G (p.His1124Gln)
2	g.86040436G>T	CA347552273	POLR1A	c.3696C>A (p.His1232Gln) n.84C>A c.3372C>A (p.His1124Gln)
2	g.86040437T>A	CA347552280	POLR1A	c.3695A>T (p.His1232Leu) n.83A>T c.3371A>T (p.His1124Leu)
2	g.86040437T>C	CA347552278	POLR1A	c.3695A>G (p.His1232Arg) n.83A>G c.3371A>G (p.His1124Arg)
2	g.86040437T>G	CA347552276	POLR1A	c.3695A>C (p.His1232Pro) n.83A>C c.3371A>C (p.His1124Pro)
2	g.86040438G>A	CA347552285	POLR1A	c.3694C>T (p.His1232Tyr) n.82C>T c.3370C>T (p.His1124Tyr)
2	g.86040438G>C	CA347552283	POLR1A	c.3694C>G (p.His1232Asp) n.82C>G c.3370C>G (p.His1124Asp)
2	g.86040438G>T	CA347552287	POLR1A	c.3694C>A (p.His1232Asn) n.82C>A c.3370C>A (p.His1124Asn)
2	g.86040439G>A	CA427148267	POLR1A	c.3693C>T (p.Phe1231=) n.81C>T c.3369C>T (p.Phe1123=)	dbSNP gnomAD v2 gnomAD v4
2	g.86040439G>C	CA347552290	POLR1A	c.3693C>G (p.Phe1231Leu) n.81C>G c.3369C>G (p.Phe1123Leu)
2	g.86040439G=	CA1267045767	POLR1A	c.3693C= (p.Phe1231=) n.81C= c.3369C= (p.Phe1123=)
2	g.86040439G>T	CA347552292	POLR1A	c.3693C>A (p.Phe1231Leu) n.81C>A c.3369C>A (p.Phe1123Leu)
2	g.86040440A>C	CA347552294	POLR1A	c.3692T>G (p.Phe1231Cys) n.80T>G c.3368T>G (p.Phe1123Cys)
2	g.86040440A>G	CA347552297	POLR1A	c.3692T>C (p.Phe1231Ser) n.80T>C c.3368T>C (p.Phe1123Ser)
2	g.86040440A>T	CA347552299	POLR1A	c.3692T>A (p.Phe1231Tyr) n.80T>A c.3368T>A (p.Phe1123Tyr)
2	g.86040441A>C	CA347552302	POLR1A	c.3691T>G (p.Phe1231Val) n.79T>G c.3367T>G (p.Phe1123Val)
2	g.86040441A>G	CA347552304	POLR1A	c.3691T>C (p.Phe1231Leu) n.79T>C c.3367T>C (p.Phe1123Leu)
2	g.86040441A>T	CA347552305	POLR1A	c.3691T>A (p.Phe1231Ile) n.79T>A c.3367T>A (p.Phe1123Ile)
2	g.86040442G>A	CA427148269	POLR1A	c.3690C>T (p.Thr1230=) n.78C>T c.3366C>T (p.Thr1122=)
2	g.86040442G>C	CA427148268	POLR1A	c.3690C>G (p.Thr1230=) n.78C>G c.3366C>G (p.Thr1122=)
2	g.86040442G=	CA1267045768	POLR1A	c.3690C= (p.Thr1230=) n.78C= c.3366C= (p.Thr1122=)
2	g.86040442G>T	CA1745712	POLR1A	c.3690C>A (p.Thr1230=) n.78C>A c.3366C>A (p.Thr1122=)	dbSNP ExAC gnomAD v2
2	g.86040443G>A	CA347552312	POLR1A	c.3689C>T (p.Thr1230Ile) n.77C>T c.3365C>T (p.Thr1122Ile)
2	g.86040443G>C	CA347552313	POLR1A	c.3689C>G (p.Thr1230Ser) n.77C>G c.3365C>G (p.Thr1122Ser)
2	g.86040443G>T	CA347552316	POLR1A	c.3689C>A (p.Thr1230Asn) n.77C>A c.3365C>A (p.Thr1122Asn)
2	g.86040444T>A	CA347552319	POLR1A	c.3688A>T (p.Thr1230Ser) n.76A>T c.3364A>T (p.Thr1122Ser)
2	g.86040444T>C	CA347552321	POLR1A	c.3688A>G (p.Thr1230Ala) n.76A>G c.3364A>G (p.Thr1122Ala)
2	g.86040444T>G	CA347552323	POLR1A	c.3688A>C (p.Thr1230Pro) n.76A>C c.3364A>C (p.Thr1122Pro)
2	g.86040445G>A	CA51372227	POLR1A	c.3687C>T (p.Asn1229=) n.75C>T c.3363C>T (p.Asn1121=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.86040445G>C	CA347552327	POLR1A	c.3687C>G (p.Asn1229Lys) n.75C>G c.3363C>G (p.Asn1121Lys)
2	g.86040445G=	CA1267045769	POLR1A	c.3687C= (p.Asn1229=) n.75C= c.3363C= (p.Asn1121=)
2	g.86040445G>T	CA347552326	POLR1A	c.3687C>A (p.Asn1229Lys) n.75C>A c.3363C>A (p.Asn1121Lys)
2	g.86040446T>A	CA347552331	POLR1A	c.3686A>T (p.Asn1229Ile) n.74A>T c.3362A>T (p.Asn1121Ile)
2	g.86040446T>C	CA347552333	POLR1A	c.3686A>G (p.Asn1229Ser) n.74A>G c.3362A>G (p.Asn1121Ser)
2	g.86040446T>G	CA347552336	POLR1A	c.3686A>C (p.Asn1229Thr) n.74A>C c.3362A>C (p.Asn1121Thr)
2	g.86040447T>A	CA347552339	POLR1A	c.3685A>T (p.Asn1229Tyr) n.73A>T c.3361A>T (p.Asn1121Tyr)
2	g.86040447T>C	CA347552341	POLR1A	c.3685A>G (p.Asn1229Asp) n.73A>G c.3361A>G (p.Asn1121Asp)
2	g.86040447T>G	CA347552343	POLR1A	c.3685A>C (p.Asn1229His) n.73A>C c.3361A>C (p.Asn1121His)
2	g.86040448G>A	CA427148272	POLR1A	c.3684C>T (p.Leu1228=) n.72C>T c.3360C>T (p.Leu1120=)	gnomAD v4
2	g.86040448G>C	CA427148271	POLR1A	c.3684C>G (p.Leu1228=) n.72C>G c.3360C>G (p.Leu1120=)
2	g.86040448G>T	CA427148270	POLR1A	c.3684C>A (p.Leu1228=) n.72C>A c.3360C>A (p.Leu1120=)
2	g.86040449A>C	CA347552346	POLR1A	c.3683T>G (p.Leu1228Arg) n.71T>G c.3359T>G (p.Leu1120Arg)
2	g.86040449A>G	CA347552348	POLR1A	c.3683T>C (p.Leu1228Pro) n.71T>C c.3359T>C (p.Leu1120Pro)
2	g.86040449A>T	CA347552351	POLR1A	c.3683T>A (p.Leu1228His) n.71T>A c.3359T>A (p.Leu1120His)
2	g.86040450G>A	CA347552354	POLR1A	c.3682C>T (p.Leu1228Phe) n.70C>T c.3358C>T (p.Leu1120Phe)
2	g.86040450G>C	CA347552356	POLR1A	c.3682C>G (p.Leu1228Val) n.70C>G c.3358C>G (p.Leu1120Val)
2	g.86040450G>T	CA347552358	POLR1A	c.3682C>A (p.Leu1228Ile) n.70C>A c.3358C>A (p.Leu1120Ile)
2	g.86040451G>A	CA427148275	POLR1A	c.3681C>T (p.Thr1227=) n.69C>T c.3357C>T (p.Thr1119=)
2	g.86040451G>C	CA427148274	POLR1A	c.3681C>G (p.Thr1227=) n.69C>G c.3357C>G (p.Thr1119=)
2	g.86040451G>T	CA427148273	POLR1A	c.3681C>A (p.Thr1227=) n.69C>A c.3357C>A (p.Thr1119=)
2	g.86040452G>A	CA347552366	POLR1A	c.3680C>T (p.Thr1227Ile) n.68C>T c.3356C>T (p.Thr1119Ile)
2	g.86040452G>C	CA347552363	POLR1A	c.3680C>G (p.Thr1227Ser) n.68C>G c.3356C>G (p.Thr1119Ser)
2	g.86040452G>T	CA347552362	POLR1A	c.3680C>A (p.Thr1227Asn) n.68C>A c.3356C>A (p.Thr1119Asn)
2	g.86040453T>A	CA347552369	POLR1A	c.3679A>T (p.Thr1227Ser) n.67A>T c.3355A>T (p.Thr1119Ser)
2	g.86040453T>C	CA347552371	POLR1A	c.3679A>G (p.Thr1227Ala) n.67A>G c.3355A>G (p.Thr1119Ala)
2	g.86040453T>G	CA347552373	POLR1A	c.3679A>C (p.Thr1227Pro) n.67A>C c.3355A>C (p.Thr1119Pro)
2	g.86040454C>A	CA347552376	POLR1A	c.3678G>T (p.Met1226Ile) n.66G>T c.3354G>T (p.Met1118Ile)
2	g.86040454C>G	CA347552378	POLR1A	c.3678G>C (p.Met1226Ile) n.66G>C c.3354G>C (p.Met1118Ile)
2	g.86040454C>T	CA347552380	POLR1A	c.3678G>A (p.Met1226Ile) n.66G>A c.3354G>A (p.Met1118Ile)
2	g.86040455A>C	CA347552388	POLR1A	c.3677T>G (p.Met1226Arg) n.65T>G c.3353T>G (p.Met1118Arg)
2	g.86040455A>G	CA347552384	POLR1A	c.3677T>C (p.Met1226Thr) n.65T>C c.3353T>C (p.Met1118Thr)	gnomAD v4
2	g.86040455A>T	CA347552386	POLR1A	c.3677T>A (p.Met1226Lys) n.65T>A c.3353T>A (p.Met1118Lys)
2	g.86040456T>A	CA347552390	POLR1A	c.3676A>T (p.Met1226Leu) n.64A>T c.3352A>T (p.Met1118Leu)
2	g.86040456T>C	CA347552393	POLR1A	c.3676A>G (p.Met1226Val) n.64A>G c.3352A>G (p.Met1118Val)
2	g.86040456T>G	CA347552395	POLR1A	c.3676A>C (p.Met1226Leu) n.64A>C c.3352A>C (p.Met1118Leu)
2	g.86040457C>A	CA347552397	POLR1A	c.3675G>T (p.Gln1225His) n.63G>T c.3351G>T (p.Gln1117His)
2	g.86040457C=	CA1267045770	POLR1A	c.3675G= (p.Gln1225=) n.63G= c.3351G= (p.Gln1117=)
2	g.86040457C>G	CA347552400	POLR1A	c.3675G>C (p.Gln1225His) n.63G>C c.3351G>C (p.Gln1117His)
2	g.86040457C>T	CA51372231	POLR1A	c.3675G>A (p.Gln1225=) n.63G>A c.3351G>A (p.Gln1117=)	dbSNP gnomAD v4
2	g.86040458T>A	CA347552404	POLR1A	c.3674A>T (p.Gln1225Leu) n.62A>T c.3350A>T (p.Gln1117Leu)
2	g.86040458T>C	CA347552409	POLR1A	c.3674A>G (p.Gln1225Arg) n.62A>G c.3350A>G (p.Gln1117Arg)
2	g.86040458T>G	CA347552406	POLR1A	c.3674A>C (p.Gln1225Pro) n.62A>C c.3350A>C (p.Gln1117Pro)
2	g.86040459G>A	CA347552411	POLR1A	c.3673C>T (p.Gln1225Ter) n.61C>T c.3349C>T (p.Gln1117Ter)	gnomAD v4
2	g.86040459G>C	CA347552413	POLR1A	c.3673C>G (p.Gln1225Glu) n.61C>G c.3349C>G (p.Gln1117Glu)
2	g.86040459G>T	CA347552415	POLR1A	c.3673C>A (p.Gln1225Lys) n.61C>A c.3349C>A (p.Gln1117Lys)
2	g.86040460G>A	CA427148279	POLR1A	c.3672C>T (p.Thr1224=) n.60C>T c.3348C>T (p.Thr1116=)
2	g.86040460G>C	CA427148278	POLR1A	c.3672C>G (p.Thr1224=) n.60C>G c.3348C>G (p.Thr1116=)	gnomAD v4
2	g.86040460G>T	CA427148277	POLR1A	c.3672C>A (p.Thr1224=) n.60C>A c.3348C>A (p.Thr1116=)
2	g.86040461G>A	CA347552418	POLR1A	c.3671C>T (p.Thr1224Ile) n.59C>T c.3347C>T (p.Thr1116Ile)
2	g.86040461G>C	CA347552420	POLR1A	c.3671C>G (p.Thr1224Ser) n.59C>G c.3347C>G (p.Thr1116Ser)
2	g.86040461G>T	CA347552421	POLR1A	c.3671C>A (p.Thr1224Asn) n.59C>A c.3347C>A (p.Thr1116Asn)
2	g.86040462T>A	CA347552423	POLR1A	c.3670A>T (p.Thr1224Ser) n.58A>T c.3346A>T (p.Thr1116Ser)
2	g.86040462T>C	CA347552424	POLR1A	c.3670A>G (p.Thr1224Ala) n.58A>G c.3346A>G (p.Thr1116Ala)
2	g.86040462T>G	CA347552426	POLR1A	c.3670A>C (p.Thr1224Pro) n.58A>C c.3346A>C (p.Thr1116Pro)
2	g.86040463G>A	CA1745713	POLR1A	c.3669C>T (p.Ser1223=) n.57C>T c.3345C>T (p.Ser1115=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.86040463G>C	CA427148284	POLR1A	c.3669C>G (p.Ser1223=) n.57C>G c.3345C>G (p.Ser1115=)
2	g.86040463G=	CA1267045771	POLR1A	c.3669C= (p.Ser1223=) n.57C= c.3345C= (p.Ser1115=)
2	g.86040463G>T	CA427148282	POLR1A	c.3669C>A (p.Ser1223=) n.57C>A c.3345C>A (p.Ser1115=)
2	g.86040464G>A	CA347552435	POLR1A	c.3668C>T (p.Ser1223Phe) n.56C>T c.3344C>T (p.Ser1115Phe)
2	g.86040464G>C	CA347552433	POLR1A	c.3668C>G (p.Ser1223Cys) n.56C>G c.3344C>G (p.Ser1115Cys)
2	g.86040464G>T	CA347552431	POLR1A	c.3668C>A (p.Ser1223Tyr) n.56C>A c.3344C>A (p.Ser1115Tyr)
2	g.86040465A>C	CA347552438	POLR1A	c.3667T>G (p.Ser1223Ala) n.55T>G c.3343T>G (p.Ser1115Ala)
2	g.86040465A>G	CA347552442	POLR1A	c.3667T>C (p.Ser1223Pro) n.55T>C c.3343T>C (p.Ser1115Pro)
2	g.86040465A>T	CA347552440	POLR1A	c.3667T>A (p.Ser1223Thr) n.55T>A c.3343T>A (p.Ser1115Thr)
2	g.86040466G>A	CA427148291	POLR1A	c.3666C>T (p.Pro1222=) n.54C>T c.3342C>T (p.Pro1114=)
2	g.86040466G>C	CA427148289	POLR1A	c.3666C>G (p.Pro1222=) n.54C>G c.3342C>G (p.Pro1114=)
2	g.86040466G>T	CA427148288	POLR1A	c.3666C>A (p.Pro1222=) n.54C>A c.3342C>A (p.Pro1114=)
2	g.86040467G>A	CA347552445	POLR1A	c.3665C>T (p.Pro1222Leu) n.53C>T c.3341C>T (p.Pro1114Leu)
2	g.86040467G>C	CA347552447	POLR1A	c.3665C>G (p.Pro1222Arg) n.53C>G c.3341C>G (p.Pro1114Arg)
2	g.86040467G>T	CA347552449	POLR1A	c.3665C>A (p.Pro1222His) n.53C>A c.3341C>A (p.Pro1114His)
2	g.86040468G>A	CA347552452	POLR1A	c.3664C>T (p.Pro1222Ser) n.52C>T c.3340C>T (p.Pro1114Ser)
2	g.86040468G>C	CA347552453	POLR1A	c.3664C>G (p.Pro1222Ala) n.52C>G c.3340C>G (p.Pro1114Ala)
2	g.86040468G>T	CA347552455	POLR1A	c.3664C>A (p.Pro1222Thr) n.52C>A c.3340C>A (p.Pro1114Thr)
2	g.86040469C>A	CA347552458	POLR1A	c.3663G>T (p.Glu1221Asp) n.51G>T c.3339G>T (p.Glu1113Asp)
2	g.86040469C>G	CA347552459	POLR1A	c.3663G>C (p.Glu1221Asp) n.51G>C c.3339G>C (p.Glu1113Asp)
2	g.86040469C>T	CA427148296	POLR1A	c.3663G>A (p.Glu1221=) n.51G>A c.3339G>A (p.Glu1113=)
2	g.86040470T>A	CA347552461	POLR1A	c.3662A>T (p.Glu1221Val) n.50A>T c.3338A>T (p.Glu1113Val)
2	g.86040470T>C	CA347552463	POLR1A	c.3662A>G (p.Glu1221Gly) n.50A>G c.3338A>G (p.Glu1113Gly)
2	g.86040470T>G	CA347552465	POLR1A	c.3662A>C (p.Glu1221Ala) n.50A>C c.3338A>C (p.Glu1113Ala)
2	g.86040471C>A	CA347552470	POLR1A	c.3661G>T (p.Glu1221Ter) n.49G>T c.3337G>T (p.Glu1113Ter)
2	g.86040471C>G	CA347552469	POLR1A	c.3661G>C (p.Glu1221Gln) n.49G>C c.3337G>C (p.Glu1113Gln)
2	g.86040471C>T	CA347552467	POLR1A	c.3661G>A (p.Glu1221Lys) n.49G>A c.3337G>A (p.Glu1113Lys)
2	g.86040472T>A	CA427148298	POLR1A	c.3660A>T (p.Gly1220=) n.48A>T c.3336A>T (p.Gly1112=)
2	g.86040472T>C	CA1745714	POLR1A	c.3660A>G (p.Gly1220=) n.48A>G c.3336A>G (p.Gly1112=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.86040472T>G	CA427148297	POLR1A	c.3660A>C (p.Gly1220=) n.48A>C c.3336A>C (p.Gly1112=)	dbSNP gnomAD v3 gnomAD v4
2	g.86040472T=	CA1267045772	POLR1A	c.3660A= (p.Gly1220=) n.48A= c.3336A= (p.Gly1112=)
2	g.86040473C>A	CA347552474	POLR1A	c.3659G>T (p.Gly1220Val) n.47G>T c.3335G>T (p.Gly1112Val)
2	g.86040473C>G	CA347552476	POLR1A	c.3659G>C (p.Gly1220Ala) n.47G>C c.3335G>C (p.Gly1112Ala)
2	g.86040473C>T	CA347552478	POLR1A	c.3659G>A (p.Gly1220Glu) n.47G>A c.3335G>A (p.Gly1112Glu)
2	g.86040474C>A	CA347552480	POLR1A	c.3658G>T (p.Gly1220Ter) n.46G>T c.3334G>T (p.Gly1112Ter)
2	g.86040474C=	CA1267045773	POLR1A	c.3658G= (p.Gly1220=) n.46G= c.3334G= (p.Gly1112=)
2	g.86040474C>G	CA347552482	POLR1A	c.3658G>C (p.Gly1220Arg) n.46G>C c.3334G>C (p.Gly1112Arg)
2	g.86040474C>T	CA347552484	POLR1A	c.3658G>A (p.Gly1220Arg) n.46G>A c.3334G>A (p.Gly1112Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.86040475G>A	CA1745715	POLR1A	c.3657C>T (p.Ile1219=) n.45C>T c.3333C>T (p.Ile1111=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.86040475G>C	CA347552487	POLR1A	c.3657C>G (p.Ile1219Met) n.45C>G c.3333C>G (p.Ile1111Met)
2	g.86040475G=	CA1267045774	POLR1A	c.3657C= (p.Ile1219=) n.45C= c.3333C= (p.Ile1111=)
2	g.86040475G>T	CA427148299	POLR1A	c.3657C>A (p.Ile1219=) n.45C>A c.3333C>A (p.Ile1111=)	gnomAD v4
2	g.86040476A=	CA1267045775	POLR1A	c.3656T= (p.Ile1219=) n.44T= c.3332T= (p.Ile1111=)
2	g.86040476A>C	CA347552489	POLR1A	c.3656T>G (p.Ile1219Ser) n.44T>G c.3332T>G (p.Ile1111Ser)
2	g.86040476A>G	CA347552491	POLR1A	c.3656T>C (p.Ile1219Thr) n.44T>C c.3332T>C (p.Ile1111Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.86040476A>T	CA347552493	POLR1A	c.3656T>A (p.Ile1219Asn) n.44T>A c.3332T>A (p.Ile1111Asn)
2	g.86040477T>A	CA347552498	POLR1A	c.3655A>T (p.Ile1219Phe) n.43A>T c.3331A>T (p.Ile1111Phe)
2	g.86040477T>C	CA347552496	POLR1A	c.3655A>G (p.Ile1219Val) n.43A>G c.3331A>G (p.Ile1111Val)	gnomAD v4
2	g.86040477T>G	CA347552495	POLR1A	c.3655A>C (p.Ile1219Leu) n.43A>C c.3331A>C (p.Ile1111Leu)
2	g.86040478G>A	CA427148300	POLR1A	c.3654C>T (p.Ser1218=) n.42C>T c.3330C>T (p.Ser1110=)
2	g.86040478G>C	CA347552499	POLR1A	c.3654C>G (p.Ser1218Arg) n.42C>G c.3330C>G (p.Ser1110Arg)
2	g.86040478G>T	CA347552500	POLR1A	c.3654C>A (p.Ser1218Arg) n.42C>A c.3330C>A (p.Ser1110Arg)
2	g.86040479C>A	CA347552502	POLR1A	c.3653G>T (p.Ser1218Ile) n.41G>T c.3329G>T (p.Ser1110Ile)
2	g.86040479C>G	CA347552504	POLR1A	c.3653G>C (p.Ser1218Thr) n.41G>C c.3329G>C (p.Ser1110Thr)
2	g.86040479C>T	CA347552506	POLR1A	c.3653G>A (p.Ser1218Asn) n.41G>A c.3329G>A (p.Ser1110Asn)	gnomAD v4
2	g.86040480T>A	CA347552509	POLR1A	c.3652A>T (p.Ser1218Cys) n.40A>T c.3328A>T (p.Ser1110Cys)
2	g.86040480T>C	CA347552511	POLR1A	c.3652A>G (p.Ser1218Gly) n.40A>G c.3328A>G (p.Ser1110Gly)
2	g.86040480T>G	CA347552512	POLR1A	c.3652A>C (p.Ser1218Arg) n.40A>C c.3328A>C (p.Ser1110Arg)
2	g.86040481C>A	CA347552514	POLR1A	c.3651G>T (p.Gln1217His) n.39G>T c.3327G>T (p.Gln1109His)
2	g.86040481C>G	CA347552516	POLR1A	c.3651G>C (p.Gln1217His) n.39G>C c.3327G>C (p.Gln1109His)
2	g.86040481C>T	CA427148302	POLR1A	c.3651G>A (p.Gln1217=) n.39G>A c.3327G>A (p.Gln1109=)
2	g.86040482T>A	CA347552518	POLR1A	c.3650A>T (p.Gln1217Leu) n.38A>T c.3326A>T (p.Gln1109Leu)
2	g.86040482T>C	CA347552520	POLR1A	c.3650A>G (p.Gln1217Arg) n.38A>G c.3326A>G (p.Gln1109Arg)
2	g.86040482T>G	CA347552522	POLR1A	c.3650A>C (p.Gln1217Pro) n.38A>C c.3326A>C (p.Gln1109Pro)
2	g.86040482_86040483delinsTG	CA1267045776	POLR1A	c.3649_3650delinsCA (p.Gln1217=) n.37_38delinsCA c.3325_3326delinsCA (p.Gln1109=)
2	g.86040483G>A	CA347552529	POLR1A	c.3649C>T (p.Gln1217Ter) n.37C>T c.3325C>T (p.Gln1109Ter)
2	g.86040483G>C	CA347552525	POLR1A	c.3649C>G (p.Gln1217Glu) n.37C>G c.3325C>G (p.Gln1109Glu)
2	g.86040483G>T	CA347552527	POLR1A	c.3649C>A (p.Gln1217Lys) n.37C>A c.3325C>A (p.Gln1109Lys)	COSMIC
2	g.86040485del	CA10575732	POLR1A	c.3649del (p.Gln1217ArgfsTer10) n.37del c.3325del (p.Gln1109ArgfsTer10)	ClinVar dbSNP
2	g.86040484G>A	CA427148305	POLR1A	c.3648C>T (p.Ala1216=) n.36C>T c.3324C>T (p.Ala1108=)	gnomAD v4
2	g.86040484G>C	CA427148304	POLR1A	c.3648C>G (p.Ala1216=) n.36C>G c.3324C>G (p.Ala1108=)
2	g.86040484G=	CA1267045777	POLR1A	c.3648C= (p.Ala1216=) n.36C= c.3324C= (p.Ala1108=)
2	g.86040484G>T	CA427148303	POLR1A	c.3648C>A (p.Ala1216=) n.36C>A c.3324C>A (p.Ala1108=)	dbSNP gnomAD v3 gnomAD v4
2	g.86040485G>A	CA347552531	POLR1A	c.3647C>T (p.Ala1216Val) n.35C>T c.3323C>T (p.Ala1108Val)	gnomAD v4
2	g.86040485G>C	CA347552533	POLR1A	c.3647C>G (p.Ala1216Gly) n.35C>G c.3323C>G (p.Ala1108Gly)
2	g.86040485G>T	CA347552535	POLR1A	c.3647C>A (p.Ala1216Asp) n.35C>A c.3323C>A (p.Ala1108Asp)
2	g.86040486C>A	CA347552537	POLR1A	c.3646G>T (p.Ala1216Ser) n.34G>T c.3322G>T (p.Ala1108Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.86040486C=	CA1267045778	POLR1A	c.3646G= (p.Ala1216=) n.34G= c.3322G= (p.Ala1108=)
2	g.86040486C>G	CA347552539	POLR1A	c.3646G>C (p.Ala1216Pro) n.34G>C c.3322G>C (p.Ala1108Pro)
2	g.86040486C>T	CA347552541	POLR1A	c.3646G>A (p.Ala1216Thr) n.34G>A c.3322G>A (p.Ala1108Thr)
2	g.86040487A>C	CA427148308	POLR1A	c.3645T>G (p.Ala1215=) n.33T>G c.3321T>G (p.Ala1107=)
2	g.86040487A>G	CA427148307	POLR1A	c.3645T>C (p.Ala1215=) n.33T>C c.3321T>C (p.Ala1107=)
2	g.86040487A>T	CA427148306	POLR1A	c.3645T>A (p.Ala1215=) n.33T>A c.3321T>A (p.Ala1107=)
2	g.86040488G>A	CA347552543	POLR1A	c.3644C>T (p.Ala1215Val) n.32C>T c.3320C>T (p.Ala1107Val)	gnomAD v4
2	g.86040488G>C	CA347552545	POLR1A	c.3644C>G (p.Ala1215Gly) n.32C>G c.3320C>G (p.Ala1107Gly)
2	g.86040488G>T	CA347552547	POLR1A	c.3644C>A (p.Ala1215Asp) n.32C>A c.3320C>A (p.Ala1107Asp)	gnomAD v4
2	g.86040489C>A	CA347552549	POLR1A	c.3643G>T (p.Ala1215Ser) n.31G>T c.3319G>T (p.Ala1107Ser)
2	g.86040489C>G	CA347552550	POLR1A	c.3643G>C (p.Ala1215Pro) n.31G>C c.3319G>C (p.Ala1107Pro)
2	g.86040489C>T	CA347552552	POLR1A	c.3643G>A (p.Ala1215Thr) n.31G>A c.3319G>A (p.Ala1107Thr)	ClinVar dbSNP gnomAD v4

Number of alleles fetched