Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.53973698_53973709del	CA605244821	HOTAIR,HOXC11	c.457_468del (p.Arg153_Asp156del) n.59+1196_59+1207del	dbSNP gnomAD v2 gnomAD v4
12	g.53973700_53973703delinsTTTC	CA2037241100	HOTAIR,HOXC11	c.459_462delinsTTTC (p.Arg153=) n.59+1195_59+1198delinsGAAA
12	g.53973704_53973706del	CA6604243	HOTAIR,HOXC11	c.463_465del (p.Phe155del) n.59+1195_59+1197del	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973703C>A	CA385104919	HOTAIR,HOXC11	c.462C>A (p.Phe154Leu) n.59+1195G>T	dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.53973703C=	CA2037241102	HOTAIR,HOXC11	c.462C= (p.Phe154=) n.59+1195G=
12	g.53973703C>G	CA385104920	HOTAIR,HOXC11	c.462C>G (p.Phe154Leu) n.59+1195G>C
12	g.53973703C>T	CA480090798	HOTAIR,HOXC11	c.462C>T (p.Phe154=) n.59+1195G>A	gnomAD v4
12	g.53973704T>A	CA385104922	HOTAIR,HOXC11	c.463T>A (p.Phe155Ile) n.59+1194A>T
12	g.53973704T>C	CA385104923	HOTAIR,HOXC11	c.463T>C (p.Phe155Leu) n.59+1194A>G
12	g.53973704T>G	CA385104924	HOTAIR,HOXC11	c.463T>G (p.Phe155Val) n.59+1194A>C
12	g.53973705T>A	CA385104927	HOTAIR,HOXC11	c.464T>A (p.Phe155Tyr) n.59+1193A>T
12	g.53973705T>C	CA385104934	HOTAIR,HOXC11	c.464T>C (p.Phe155Ser) n.59+1193A>G
12	g.53973705T>G	CA385104936	HOTAIR,HOXC11	c.464T>G (p.Phe155Cys) n.59+1193A>C
12	g.53973706C>A	CA385104939	HOTAIR,HOXC11	c.465C>A (p.Phe155Leu) n.59+1192G>T
12	g.53973706C>G	CA385104941	HOTAIR,HOXC11	c.465C>G (p.Phe155Leu) n.59+1192G>C
12	g.53973706C>T	CA480090799	HOTAIR,HOXC11	c.465C>T (p.Phe155=) n.59+1192G>A	gnomAD v4
12	g.53973707G>A	CA385104943	HOTAIR,HOXC11	c.466G>A (p.Asp156Asn) n.59+1191C>T	gnomAD v4
12	g.53973707G>C	CA385104946	HOTAIR,HOXC11	c.466G>C (p.Asp156His) n.59+1191C>G
12	g.53973707G>T	CA385104949	HOTAIR,HOXC11	c.466G>T (p.Asp156Tyr) n.59+1191C>A
12	g.53973708A>C	CA385104951	HOTAIR,HOXC11	c.467A>C (p.Asp156Ala) n.59+1190T>G
12	g.53973708A>G	CA385104953	HOTAIR,HOXC11	c.467A>G (p.Asp156Gly) n.59+1190T>C
12	g.53973708A>T	CA385104956	HOTAIR,HOXC11	c.467A>T (p.Asp156Val) n.59+1190T>A
12	g.53973709C>A	CA385104966	HOTAIR,HOXC11	c.468C>A (p.Asp156Glu) n.59+1189G>T
12	g.53973709C>G	CA385104958	HOTAIR,HOXC11	c.468C>G (p.Asp156Glu) n.59+1189G>C
12	g.53973709C>T	CA480090800	HOTAIR,HOXC11	c.468C>T (p.Asp156=) n.59+1189G>A
12	g.53973710A>C	CA385104968	HOTAIR,HOXC11	c.469A>C (p.Asn157His) n.59+1188T>G
12	g.53973710A>G	CA385104972	HOTAIR,HOXC11	c.469A>G (p.Asn157Asp) n.59+1188T>C
12	g.53973710A>T	CA385104974	HOTAIR,HOXC11	c.469A>T (p.Asn157Tyr) n.59+1188T>A
12	g.53973711A>C	CA385104977	HOTAIR,HOXC11	c.470A>C (p.Asn157Thr) n.59+1187T>G
12	g.53973711A>G	CA385104979	HOTAIR,HOXC11	c.470A>G (p.Asn157Ser) n.59+1187T>C
12	g.53973711A>T	CA385104982	HOTAIR,HOXC11	c.470A>T (p.Asn157Ile) n.59+1187T>A
12	g.53973712C>A	CA6604244	HOTAIR,HOXC11	c.471C>A (p.Asn157Lys) n.59+1186G>T	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.53973712C=	CA2037241103	HOTAIR,HOXC11	c.471C= (p.Asn157=) n.59+1186G=
12	g.53973712C>G	CA6604245	HOTAIR,HOXC11	c.471C>G (p.Asn157Lys) n.59+1186G>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973712C>T	CA480090801	HOTAIR,HOXC11	c.471C>T (p.Asn157=) n.59+1186G>A	gnomAD v4
12	g.53973713G>A	CA385104988	HOTAIR,HOXC11	c.472G>A (p.Ala158Thr) n.59+1185C>T	dbSNP gnomAD v2
12	g.53973713G>C	CA385104991	HOTAIR,HOXC11	c.472G>C (p.Ala158Pro) n.59+1185C>G
12	g.53973713G=	CA2037241105	HOTAIR,HOXC11	c.472G= (p.Ala158=) n.59+1185C=
12	g.53973713G>T	CA385104994	HOTAIR,HOXC11	c.472G>T (p.Ala158Ser) n.59+1185C>A
12	g.53973714C>A	CA385104997	HOTAIR,HOXC11	c.473C>A (p.Ala158Asp) n.59+1184G>T	dbSNP
12	g.53973714C=	CA2037241107	HOTAIR,HOXC11	c.473C= (p.Ala158=) n.59+1184G=
12	g.53973714C>G	CA385104999	HOTAIR,HOXC11	c.473C>G (p.Ala158Gly) n.59+1184G>C
12	g.53973714C>T	CA385105002	HOTAIR,HOXC11	c.473C>T (p.Ala158Val) n.59+1184G>A
12	g.53973715C>A	CA480090802	HOTAIR,HOXC11	c.474C>A (p.Ala158=) n.59+1183G>T
12	g.53973715C>G	CA480090804	HOTAIR,HOXC11	c.474C>G (p.Ala158=) n.59+1183G>C
12	g.53973715C>T	CA480090803	HOTAIR,HOXC11	c.474C>T (p.Ala158=) n.59+1183G>A	gnomAD v4 COSMIC
12	g.53973716T>A	CA385105004	HOTAIR,HOXC11	c.475T>A (p.Tyr159Asn) n.59+1182A>T
12	g.53973716T>C	CA385105010	HOTAIR,HOXC11	c.475T>C (p.Tyr159His) n.59+1182A>G
12	g.53973716T>G	CA385105007	HOTAIR,HOXC11	c.475T>G (p.Tyr159Asp) n.59+1182A>C
12	g.53973717A>C	CA385105015	HOTAIR,HOXC11	c.476A>C (p.Tyr159Ser) n.59+1181T>G
12	g.53973717A>G	CA385105017	HOTAIR,HOXC11	c.476A>G (p.Tyr159Cys) n.59+1181T>C	gnomAD v4
12	g.53973717A>T	CA385105020	HOTAIR,HOXC11	c.476A>T (p.Tyr159Phe) n.59+1181T>A	gnomAD v4
12	g.53973718C>A	CA385105023	HOTAIR,HOXC11	c.477C>A (p.Tyr159Ter) n.59+1180G>T
12	g.53973718C=	CA2037241108	HOTAIR,HOXC11	c.477C= (p.Tyr159=) n.59+1180G=
12	g.53973718C>G	CA385105025	HOTAIR,HOXC11	c.477C>G (p.Tyr159Ter) n.59+1180G>C
12	g.53973718C>T	CA480090805	HOTAIR,HOXC11	c.477C>T (p.Tyr159=) n.59+1180G>A	dbSNP gnomAD v2 gnomAD v4
12	g.53973719T>A	CA385105029	HOTAIR,HOXC11	c.478T>A (p.Cys160Ser) n.59+1179A>T
12	g.53973719T>C	CA385105031	HOTAIR,HOXC11	c.478T>C (p.Cys160Arg) n.59+1179A>G
12	g.53973719T>G	CA385105034	HOTAIR,HOXC11	c.478T>G (p.Cys160Gly) n.59+1179A>C
12	g.53973720G>A	CA6604246	HOTAIR,HOXC11	c.479G>A (p.Cys160Tyr) n.59+1178C>T	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.53973720G>C	CA385105040	HOTAIR,HOXC11	c.479G>C (p.Cys160Ser) n.59+1178C>G
12	g.53973720G=	CA2037241110	HOTAIR,HOXC11	c.479G= (p.Cys160=) n.59+1178C=
12	g.53973720G>T	CA385105043	HOTAIR,HOXC11	c.479G>T (p.Cys160Phe) n.59+1178C>A
12	g.53973721C>A	CA385105046	HOTAIR,HOXC11	c.480C>A (p.Cys160Ter) n.59+1177G>T
12	g.53973721C=	CA2037241111	HOTAIR,HOXC11	c.480C= (p.Cys160=) n.59+1177G=
12	g.53973721C>G	CA385105048	HOTAIR,HOXC11	c.480C>G (p.Cys160Trp) n.59+1177G>C
12	g.53973721C>T	CA480090806	HOTAIR,HOXC11	c.480C>T (p.Cys160=) n.59+1177G>A	dbSNP gnomAD v2
12	g.53973722G>A	CA385105050	HOTAIR,HOXC11	c.481G>A (p.Gly161Ser) n.59+1176C>T	dbSNP gnomAD v3 gnomAD v4
12	g.53973722G>C	CA385105054	HOTAIR,HOXC11	c.481G>C (p.Gly161Arg) n.59+1176C>G
12	g.53973722G=	CA2037241113	HOTAIR,HOXC11	c.481G= (p.Gly161=) n.59+1176C=
12	g.53973722G>T	CA385105051	HOTAIR,HOXC11	c.481G>T (p.Gly161Cys) n.59+1176C>A
12	g.53973723G>A	CA385105057	HOTAIR,HOXC11	c.482G>A (p.Gly161Asp) n.59+1175C>T
12	g.53973723G>C	CA385105058	HOTAIR,HOXC11	c.482G>C (p.Gly161Ala) n.59+1175C>G
12	g.53973723G>T	CA385105061	HOTAIR,HOXC11	c.482G>T (p.Gly161Val) n.59+1175C>A
12	g.53973724T>A	CA480090807	HOTAIR,HOXC11	c.483T>A (p.Gly161=) n.59+1174A>T
12	g.53973724T>C	CA480090808	HOTAIR,HOXC11	c.483T>C (p.Gly161=) n.59+1174A>G	gnomAD v4
12	g.53973724T>G	CA480090809	HOTAIR,HOXC11	c.483T>G (p.Gly161=) n.59+1174A>C
12	g.53973725G>A	CA385105064	HOTAIR,HOXC11	c.484G>A (p.Gly162Ser) n.59+1173C>T
12	g.53973725G>C	CA385105066	HOTAIR,HOXC11	c.484G>C (p.Gly162Arg) n.59+1173C>G
12	g.53973725G>T	CA385105068	HOTAIR,HOXC11	c.484G>T (p.Gly162Cys) n.59+1173C>A
12	g.53973726G>A	CA385105072	HOTAIR,HOXC11	c.485G>A (p.Gly162Asp) n.59+1172C>T	gnomAD v4
12	g.53973726G>C	CA385105074	HOTAIR,HOXC11	c.485G>C (p.Gly162Ala) n.59+1172C>G
12	g.53973726G>T	CA385105076	HOTAIR,HOXC11	c.485G>T (p.Gly162Val) n.59+1172C>A	gnomAD v4
12	g.53973727C>A	CA480090810	HOTAIR,HOXC11	c.486C>A (p.Gly162=) n.59+1171G>T	gnomAD v4
12	g.53973727C=	CA2037241115	HOTAIR,HOXC11	c.486C= (p.Gly162=) n.59+1171G=
12	g.53973727C>G	CA480090811	HOTAIR,HOXC11	c.486C>G (p.Gly162=) n.59+1171G>C	gnomAD v4
12	g.53973727C>T	CA6604247	HOTAIR,HOXC11	c.486C>T (p.Gly162=) n.59+1171G>A	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.53973728G>A	CA237397952	HOTAIR,HOXC11	c.487G>A (p.Gly163Ser) n.59+1170C>T	dbSNP
12	g.53973728G>C	CA6604248	HOTAIR,HOXC11	c.487G>C (p.Gly163Arg) n.59+1170C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973728G=	CA2037241116	HOTAIR,HOXC11	c.487G= (p.Gly163=) n.59+1170C=
12	g.53973728G>T	CA385105081	HOTAIR,HOXC11	c.487G>T (p.Gly163Cys) n.59+1170C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.53973729G>A	CA385105095	HOTAIR,HOXC11	c.488G>A (p.Gly163Asp) n.59+1169C>T
12	g.53973729G>C	CA385105101	HOTAIR,HOXC11	c.488G>C (p.Gly163Ala) n.59+1169C>G
12	g.53973729G>T	CA385105098	HOTAIR,HOXC11	c.488G>T (p.Gly163Val) n.59+1169C>A
12	g.53973730C>A	CA6604249	HOTAIR,HOXC11	c.489C>A (p.Gly163=) n.59+1168G>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973730C=	CA2037241119	HOTAIR,HOXC11	c.489C= (p.Gly163=) n.59+1168G=
12	g.53973730C>G	CA480090814	HOTAIR,HOXC11	c.489C>G (p.Gly163=) n.59+1168G>C
12	g.53973730C>T	CA480090813	HOTAIR,HOXC11	c.489C>T (p.Gly163=) n.59+1168G>A
12	g.53973730_53973731insTCCTTT	CA2796041905	HOTAIR,HOXC11	c.489_490insTCCTTT (p.Gly163_Asp164insSerPhe) n.59+1167_59+1168insAAAGGA
12	g.53973731G>A	CA385105108	HOTAIR,HOXC11	c.490G>A (p.Asp164Asn) n.59+1167C>T	dbSNP gnomAD v2 gnomAD v4
12	g.53973731G>C	CA385105111	HOTAIR,HOXC11	c.490G>C (p.Asp164His) n.59+1167C>G	gnomAD v4
12	g.53973731G=	CA2037241120	HOTAIR,HOXC11	c.490G= (p.Asp164=) n.59+1167C=
12	g.53973731G>T	CA385105113	HOTAIR,HOXC11	c.490G>T (p.Asp164Tyr) n.59+1167C>A
12	g.53973732A=	CA2037241121	HOTAIR,HOXC11	c.491A= (p.Asp164=) n.59+1166T=
12	g.53973732A>C	CA6604250	HOTAIR,HOXC11	c.491A>C (p.Asp164Ala) n.59+1166T>G	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.53973732A>G	CA385105116	HOTAIR,HOXC11	c.491A>G (p.Asp164Gly) n.59+1166T>C	dbSNP
12	g.53973732A>T	CA385105117	HOTAIR,HOXC11	c.491A>T (p.Asp164Val) n.59+1166T>A
12	g.53973733C>A	CA385105118	HOTAIR,HOXC11	c.492C>A (p.Asp164Glu) n.59+1165G>T
12	g.53973733C=	CA2037241122	HOTAIR,HOXC11	c.492C= (p.Asp164=) n.59+1165G=
12	g.53973733C>G	CA385105119	HOTAIR,HOXC11	c.492C>G (p.Asp164Glu) n.59+1165G>C
12	g.53973733C>T	CA6604251	HOTAIR,HOXC11	c.492C>T (p.Asp164=) n.59+1165G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973734C>A	CA385105128	HOTAIR,HOXC11	c.493C>A (p.Pro165Thr) n.59+1164G>T
12	g.53973734C=	CA2037241123	HOTAIR,HOXC11	c.493C= (p.Pro165=) n.59+1164G=
12	g.53973734C>G	CA385105126	HOTAIR,HOXC11	c.493C>G (p.Pro165Ala) n.59+1164G>C	dbSNP
12	g.53973734C>T	CA385105124	HOTAIR,HOXC11	c.493C>T (p.Pro165Ser) n.59+1164G>A
12	g.53973735C>A	CA385105130	HOTAIR,HOXC11	c.494C>A (p.Pro165Gln) n.59+1163G>T	gnomAD v4
12	g.53973735C>G	CA385105131	HOTAIR,HOXC11	c.494C>G (p.Pro165Arg) n.59+1163G>C
12	g.53973735C>T	CA385105133	HOTAIR,HOXC11	c.494C>T (p.Pro165Leu) n.59+1163G>A	gnomAD v4
12	g.53973736G>A	CA6604253	HOTAIR,HOXC11	c.495G>A (p.Pro165=) n.59+1162C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973736G>C	CA6604252	HOTAIR,HOXC11	c.495G>C (p.Pro165=) n.59+1162C>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973736G=	CA2037241126	HOTAIR,HOXC11	c.495G= (p.Pro165=) n.59+1162C=
12	g.53973736G>T	CA480090816	HOTAIR,HOXC11	c.495G>T (p.Pro165=) n.59+1162C>A
12	g.53973737C>A	CA385105139	HOTAIR,HOXC11	c.496C>A (p.Pro166Thr) n.59+1161G>T
12	g.53973737C>G	CA385105140	HOTAIR,HOXC11	c.496C>G (p.Pro166Ala) n.59+1161G>C
12	g.53973737C>T	CA385105144	HOTAIR,HOXC11	c.496C>T (p.Pro166Ser) n.59+1161G>A
12	g.53973738C>A	CA385105147	HOTAIR,HOXC11	c.497C>A (p.Pro166His) n.59+1160G>T
12	g.53973738C=	CA2037241127	HOTAIR,HOXC11	c.497C= (p.Pro166=) n.59+1160G=
12	g.53973738C>G	CA385105149	HOTAIR,HOXC11	c.497C>G (p.Pro166Arg) n.59+1160G>C	dbSNP
12	g.53973738C>T	CA385105152	HOTAIR,HOXC11	c.497C>T (p.Pro166Leu) n.59+1160G>A	dbSNP gnomAD v2 gnomAD v4
12	g.53973739C>A	CA6604254	HOTAIR,HOXC11	c.498C>A (p.Pro166=) n.59+1159G>T	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.53973739C=	CA2037241129	HOTAIR,HOXC11	c.498C= (p.Pro166=) n.59+1159G=
12	g.53973739C>G	CA480090817	HOTAIR,HOXC11	c.498C>G (p.Pro166=) n.59+1159G>C
12	g.53973739C>T	CA480090818	HOTAIR,HOXC11	c.498C>T (p.Pro166=) n.59+1159G>A	gnomAD v4 COSMIC
12	g.53973740G>A	CA385105160	HOTAIR,HOXC11	c.499G>A (p.Ala167Thr) n.59+1158C>T	dbSNP gnomAD v2 gnomAD v4
12	g.53973740G>C	CA385105163	HOTAIR,HOXC11	c.499G>C (p.Ala167Pro) n.59+1158C>G
12	g.53973740G=	CA2037241130	HOTAIR,HOXC11	c.499G= (p.Ala167=) n.59+1158C=
12	g.53973740G>T	CA385105158	HOTAIR,HOXC11	c.499G>T (p.Ala167Ser) n.59+1158C>A	dbSNP gnomAD v3 gnomAD v4
12	g.53973741C>A	CA385105167	HOTAIR,HOXC11	c.500C>A (p.Ala167Asp) n.59+1157G>T
12	g.53973741C>G	CA385105169	HOTAIR,HOXC11	c.500C>G (p.Ala167Gly) n.59+1157G>C
12	g.53973741C>T	CA385105172	HOTAIR,HOXC11	c.500C>T (p.Ala167Val) n.59+1157G>A
12	g.53973741_53973742insACCAAA	CA2796041906	HOTAIR,HOXC11	c.500_501insACCAAA (p.Ala167_Glu168insProAsn) n.59+1156_59+1157insTTTGGT
12	g.53973742C>A	CA480090819	HOTAIR,HOXC11	c.501C>A (p.Ala167=) n.59+1156G>T
12	g.53973742C>G	CA480090820	HOTAIR,HOXC11	c.501C>G (p.Ala167=) n.59+1156G>C
12	g.53973742C>T	CA480090821	HOTAIR,HOXC11	c.501C>T (p.Ala167=) n.59+1156G>A
12	g.53973743G>A	CA6604255	HOTAIR,HOXC11	c.502G>A (p.Glu168Lys) n.59+1155C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973743G>C	CA385105175	HOTAIR,HOXC11	c.502G>C (p.Glu168Gln) n.59+1155C>G
12	g.53973743G=	CA2037241133	HOTAIR,HOXC11	c.502G= (p.Glu168=) n.59+1155C=
12	g.53973743G>T	CA385105178	HOTAIR,HOXC11	c.502G>T (p.Glu168Ter) n.59+1155C>A
12	g.53973744A>C	CA385105185	HOTAIR,HOXC11	c.503A>C (p.Glu168Ala) n.59+1154T>G
12	g.53973744A>G	CA385105182	HOTAIR,HOXC11	c.503A>G (p.Glu168Gly) n.59+1154T>C
12	g.53973744A>T	CA385105184	HOTAIR,HOXC11	c.503A>T (p.Glu168Val) n.59+1154T>A
12	g.53973745G>A	CA479965361	HOTAIR,HOXC11	c.504G>A (p.Glu168=) n.59+1153C>T
12	g.53973745G>C	CA385105187	HOTAIR,HOXC11	c.504G>C (p.Glu168Asp) n.59+1153C>G	gnomAD v4
12	g.53973745G=	CA2037241134	HOTAIR,HOXC11	c.504G= (p.Glu168=) n.59+1153C=
12	g.53973745G>T	CA385105190	HOTAIR,HOXC11	c.504G>T (p.Glu168Asp) n.59+1153C>A	dbSNP
12	g.53973745_53973746delinsGC	CA2037241135	HOTAIR,HOXC11	c.504_505delinsGC (p.Glu168=) n.59+1152_59+1153delinsGC
12	g.53973746C>A	CA385105194	HOTAIR,HOXC11	c.505C>A (p.Pro169Thr) n.59+1152G>T	dbSNP gnomAD v2 gnomAD v4
12	g.53973746C=	CA2037241137	HOTAIR,HOXC11	c.505C= (p.Pro169=) n.59+1152G=
12	g.53973746C>G	CA385105195	HOTAIR,HOXC11	c.505C>G (p.Pro169Ala) n.59+1152G>C	gnomAD v4
12	g.53973746C>T	CA385105198	HOTAIR,HOXC11	c.505C>T (p.Pro169Ser) n.59+1152G>A	dbSNP gnomAD v2 gnomAD v4
12	g.53973751dup	CA605245016	HOTAIR,HOXC11	c.510dup (p.Cys171LeufsTer24) n.59+1152dup	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.53973751del	CA605245014	HOTAIR,HOXC11	c.510del (p.Cys171AlafsTer?) n.59+1152del	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973747C>A	CA6604256	HOTAIR,HOXC11	c.506C>A (p.Pro169His) n.59+1151G>T	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.53973747C=	CA2037241139	HOTAIR,HOXC11	c.506C= (p.Pro169=) n.59+1151G=
12	g.53973747C>G	CA385105202	HOTAIR,HOXC11	c.506C>G (p.Pro169Arg) n.59+1151G>C	dbSNP gnomAD v3 gnomAD v4
12	g.53973747C>T	CA385105200	HOTAIR,HOXC11	c.506C>T (p.Pro169Leu) n.59+1151G>A
12	g.53973748C>A	CA479965362	HOTAIR,HOXC11	c.507C>A (p.Pro169=) n.59+1150G>T
12	g.53973748C>G	CA479965363	HOTAIR,HOXC11	c.507C>G (p.Pro169=) n.59+1150G>C
12	g.53973748C>T	CA479965364	HOTAIR,HOXC11	c.507C>T (p.Pro169=) n.59+1150G>A	COSMIC
12	g.53973749C>A	CA385105205	HOTAIR,HOXC11	c.508C>A (p.Pro170Thr) n.59+1149G>T
12	g.53973749C>G	CA385105207	HOTAIR,HOXC11	c.508C>G (p.Pro170Ala) n.59+1149G>C
12	g.53973749C>T	CA385105210	HOTAIR,HOXC11	c.508C>T (p.Pro170Ser) n.59+1149G>A
12	g.53973750C>A	CA385105211	HOTAIR,HOXC11	c.509C>A (p.Pro170His) n.59+1148G>T
12	g.53973750C=	CA2037241141	HOTAIR,HOXC11	c.509C= (p.Pro170=) n.59+1148G=
12	g.53973750C>G	CA385105213	HOTAIR,HOXC11	c.509C>G (p.Pro170Arg) n.59+1148G>C	dbSNP
12	g.53973750C>T	CA6604257	HOTAIR,HOXC11	c.509C>T (p.Pro170Leu) n.59+1148G>A	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.53973751C>A	CA479965366	HOTAIR,HOXC11	c.510C>A (p.Pro170=) n.59+1147G>T
12	g.53973751C=	CA2037241144	HOTAIR,HOXC11	c.510C= (p.Pro170=) n.59+1147G=
12	g.53973751C>G	CA237398001	HOTAIR,HOXC11	c.510C>G (p.Pro170=) n.59+1147G>C	dbSNP gnomAD v3 gnomAD v4
12	g.53973751C>T	CA479965365	HOTAIR,HOXC11	c.510C>T (p.Pro170=) n.59+1147G>A	dbSNP gnomAD v2 gnomAD v4
12	g.53973752T>A	CA385105219	HOTAIR,HOXC11	c.511T>A (p.Cys171Ser) n.59+1146A>T
12	g.53973752T>C	CA385105221	HOTAIR,HOXC11	c.511T>C (p.Cys171Arg) n.59+1146A>G	COSMIC
12	g.53973752T>G	CA385105223	HOTAIR,HOXC11	c.511T>G (p.Cys171Gly) n.59+1146A>C	gnomAD v4
12	g.53973753G>A	CA385105226	HOTAIR,HOXC11	c.512G>A (p.Cys171Tyr) n.59+1145C>T
12	g.53973753G>C	CA385105229	HOTAIR,HOXC11	c.512G>C (p.Cys171Ser) n.59+1145C>G
12	g.53973753G>T	CA385105231	HOTAIR,HOXC11	c.512G>T (p.Cys171Phe) n.59+1145C>A
12	g.53973754C>A	CA385105234	HOTAIR,HOXC11	c.513C>A (p.Cys171Ter) n.59+1144G>T
12	g.53973754C>G	CA385105236	HOTAIR,HOXC11	c.513C>G (p.Cys171Trp) n.59+1144G>C
12	g.53973754C>T	CA479965367	HOTAIR,HOXC11	c.513C>T (p.Cys171=) n.59+1144G>A
12	g.53973755T>A	CA385105238	HOTAIR,HOXC11	c.514T>A (p.Ser172Thr) n.59+1143A>T
12	g.53973755T>C	CA385105244	HOTAIR,HOXC11	c.514T>C (p.Ser172Pro) n.59+1143A>G
12	g.53973755T>G	CA385105241	HOTAIR,HOXC11	c.514T>G (p.Ser172Ala) n.59+1143A>C
12	g.53973756C>A	CA385105247	HOTAIR,HOXC11	c.515C>A (p.Ser172Tyr) n.59+1142G>T	gnomAD v4
12	g.53973756C=	CA2037241146	HOTAIR,HOXC11	c.515C= (p.Ser172=) n.59+1142G=
12	g.53973756C>G	CA385105249	HOTAIR,HOXC11	c.515C>G (p.Ser172Cys) n.59+1142G>C
12	g.53973756C>T	CA385105251	HOTAIR,HOXC11	c.515C>T (p.Ser172Phe) n.59+1142G>A	dbSNP gnomAD v4
12	g.53973757C>A	CA479965368	HOTAIR,HOXC11	c.516C>A (p.Ser172=) n.59+1141G>T	dbSNP
12	g.53973757C=	CA2037241150	HOTAIR,HOXC11	c.516C= (p.Ser172=) n.59+1141G=
12	g.53973757C>G	CA479965370	HOTAIR,HOXC11	c.516C>G (p.Ser172=) n.59+1141G>C
12	g.53973757C>T	CA479965369	HOTAIR,HOXC11	c.516C>T (p.Ser172=) n.59+1141G>A	gnomAD v4
12	g.53973758G>A	CA6604258	HOTAIR,HOXC11	c.517G>A (p.Gly173Ser) n.59+1140C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973758G>C	CA385105256	HOTAIR,HOXC11	c.517G>C (p.Gly173Arg) n.59+1140C>G	gnomAD v4
12	g.53973758G=	CA2037241151	HOTAIR,HOXC11	c.517G= (p.Gly173=) n.59+1140C=
12	g.53973758G>T	CA6604259	HOTAIR,HOXC11	c.517G>T (p.Gly173Cys) n.59+1140C>A	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.53973759G>A	CA385105265	HOTAIR,HOXC11	c.518G>A (p.Gly173Asp) n.59+1139C>T	gnomAD v4
12	g.53973759G>C	CA385105268	HOTAIR,HOXC11	c.518G>C (p.Gly173Ala) n.59+1139C>G
12	g.53973759G=	CA2037241152	HOTAIR,HOXC11	c.518G= (p.Gly173=) n.59+1139C=
12	g.53973759G>T	CA385105271	HOTAIR,HOXC11	c.518G>T (p.Gly173Val) n.59+1139C>A
12	g.53973760C>A	CA479965371	HOTAIR,HOXC11	c.519C>A (p.Gly173=) n.59+1138G>T	dbSNP gnomAD v2 gnomAD v4
12	g.53973760C=	CA2037241154	HOTAIR,HOXC11	c.519C= (p.Gly173=) n.59+1138G=
12	g.53973760C>G	CA479965372	HOTAIR,HOXC11	c.519C>G (p.Gly173=) n.59+1138G>C
12	g.53973760C>T	CA479965373	HOTAIR,HOXC11	c.519C>T (p.Gly173=) n.59+1138G>A	dbSNP gnomAD v4
12	g.53973766_53973777dup	CA689961572	HOTAIR,HOXC11	c.525_536dup (p.Gly179_Glu180insGluAlaLysGly) n.59+1127_59+1138dup	dbSNP gnomAD v3 gnomAD v4
12	g.53973761A=	CA2037241157	HOTAIR,HOXC11	c.520A= (p.Lys174=) n.59+1137T=
12	g.53973761A>C	CA385105274	HOTAIR,HOXC11	c.520A>C (p.Lys174Gln) n.59+1137T>G
12	g.53973761A>G	CA385105276	HOTAIR,HOXC11	c.520A>G (p.Lys174Glu) n.59+1137T>C	dbSNP gnomAD v4
12	g.53973761A>T	CA385105279	HOTAIR,HOXC11	c.520A>T (p.Lys174Ter) n.59+1137T>A
12	g.53973762A>C	CA385105282	HOTAIR,HOXC11	c.521A>C (p.Lys174Thr) n.59+1136T>G
12	g.53973762A>G	CA385105280	HOTAIR,HOXC11	c.521A>G (p.Lys174Arg) n.59+1136T>C
12	g.53973762A>T	CA385105281	HOTAIR,HOXC11	c.521A>T (p.Lys174Met) n.59+1136T>A
12	g.53973763G>A	CA479965374	HOTAIR,HOXC11	c.522G>A (p.Lys174=) n.59+1135C>T
12	g.53973763G>C	CA385105284	HOTAIR,HOXC11	c.522G>C (p.Lys174Asn) n.59+1135C>G
12	g.53973763G>T	CA385105285	HOTAIR,HOXC11	c.522G>T (p.Lys174Asn) n.59+1135C>A
12	g.53973764G>A	CA6604260	HOTAIR,HOXC11	c.523G>A (p.Gly175Ser) n.59+1134C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973764G>C	CA385105292	HOTAIR,HOXC11	c.523G>C (p.Gly175Arg) n.59+1134C>G	dbSNP gnomAD v3 gnomAD v4
12	g.53973764G=	CA2037241159	HOTAIR,HOXC11	c.523G= (p.Gly175=) n.59+1134C=
12	g.53973764G>T	CA6604261	HOTAIR,HOXC11	c.523G>T (p.Gly175Cys) n.59+1134C>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973765G>A	CA385105296	HOTAIR,HOXC11	c.524G>A (p.Gly175Asp) n.59+1133C>T	dbSNP gnomAD v3 gnomAD v4
12	g.53973765G>C	CA385105300	HOTAIR,HOXC11	c.524G>C (p.Gly175Ala) n.59+1133C>G	dbSNP
12	g.53973765G=	CA2037241165	HOTAIR,HOXC11	c.524G= (p.Gly175=) n.59+1133C=
12	g.53973765G>T	CA385105301	HOTAIR,HOXC11	c.524G>T (p.Gly175Val) n.59+1133C>A
12	g.53973766C>A	CA479965375	HOTAIR,HOXC11	c.525C>A (p.Gly175=) n.59+1132G>T
12	g.53973766C=	CA2037241172	HOTAIR,HOXC11	c.525C= (p.Gly175=) n.59+1132G=
12	g.53973766C>G	CA479965376	HOTAIR,HOXC11	c.525C>G (p.Gly175=) n.59+1132G>C
12	g.53973766C>T	CA479965377	HOTAIR,HOXC11	c.525C>T (p.Gly175=) n.59+1132G>A	dbSNP gnomAD v2 gnomAD v4
12	g.53973772_53973789del	CA2619096522	HOTAIR,HOXC11	c.531_548del (p.Lys178_Ala183del) n.59+1115_59+1132del	gnomAD v4
12	g.53973767G>A	CA6604262	HOTAIR,HOXC11	c.526G>A (p.Glu176Lys) n.59+1131C>T	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.53973767G>C	CA385105306	HOTAIR,HOXC11	c.526G>C (p.Glu176Gln) n.59+1131C>G
12	g.53973767G=	CA2037241177	HOTAIR,HOXC11	c.526G= (p.Glu176=) n.59+1131C=
12	g.53973767G>T	CA385105314	HOTAIR,HOXC11	c.526G>T (p.Glu176Ter) n.59+1131C>A	gnomAD v4
12	g.53973768A>C	CA385105322	HOTAIR,HOXC11	c.527A>C (p.Glu176Ala) n.59+1130T>G
12	g.53973768A>G	CA385105320	HOTAIR,HOXC11	c.527A>G (p.Glu176Gly) n.59+1130T>C
12	g.53973768A>T	CA385105318	HOTAIR,HOXC11	c.527A>T (p.Glu176Val) n.59+1130T>A
12	g.53973769G>A	CA479965378	HOTAIR,HOXC11	c.528G>A (p.Glu176=) n.59+1129C>T
12	g.53973769G>C	CA385105328	HOTAIR,HOXC11	c.528G>C (p.Glu176Asp) n.59+1129C>G
12	g.53973769G=	CA2037241182	HOTAIR,HOXC11	c.528G= (p.Glu176=) n.59+1129C=
12	g.53973769G>T	CA385105326	HOTAIR,HOXC11	c.528G>T (p.Glu176Asp) n.59+1129C>A
12	g.53973769_53973770insT	CA385105331	HOTAIR,HOXC11	c.528_529insT (p.Ala177CysfsTer18) n.59+1128_59+1129insA	dbSNP
12	g.53973770G>A	CA385105332	HOTAIR,HOXC11	c.529G>A (p.Ala177Thr) n.59+1128C>T
12	g.53973770G>C	CA385105334	HOTAIR,HOXC11	c.529G>C (p.Ala177Pro) n.59+1128C>G
12	g.53973770G>T	CA385105336	HOTAIR,HOXC11	c.529G>T (p.Ala177Ser) n.59+1128C>A
12	g.53973771C>A	CA385105339	HOTAIR,HOXC11	c.530C>A (p.Ala177Asp) n.59+1127G>T
12	g.53973771C=	CA2037241186	HOTAIR,HOXC11	c.530C= (p.Ala177=) n.59+1127G=
12	g.53973771C>G	CA385105341	HOTAIR,HOXC11	c.530C>G (p.Ala177Gly) n.59+1127G>C	dbSNP gnomAD v3 gnomAD v4
12	g.53973771C>T	CA385105343	HOTAIR,HOXC11	c.530C>T (p.Ala177Val) n.59+1127G>A
12	g.53973772C>A	CA479965380	HOTAIR,HOXC11	c.531C>A (p.Ala177=) n.59+1126G>T
12	g.53973772C>G	CA479965381	HOTAIR,HOXC11	c.531C>G (p.Ala177=) n.59+1126G>C
12	g.53973772C>T	CA479965379	HOTAIR,HOXC11	c.531C>T (p.Ala177=) n.59+1126G>A
12	g.53973773A=	CA2037241188	HOTAIR,HOXC11	c.532A= (p.Lys178=) n.59+1125T=
12	g.53973773A>C	CA385105347	HOTAIR,HOXC11	c.532A>C (p.Lys178Gln) n.59+1125T>G
12	g.53973773A>G	CA6604263	HOTAIR,HOXC11	c.532A>G (p.Lys178Glu) n.59+1125T>C	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.53973773A>T	CA385105351	HOTAIR,HOXC11	c.532A>T (p.Lys178Ter) n.59+1125T>A	gnomAD v4
12	g.53973774A=	CA2037241192	HOTAIR,HOXC11	c.533A= (p.Lys178=) n.59+1124T=
12	g.53973774A>C	CA385105354	HOTAIR,HOXC11	c.533A>C (p.Lys178Thr) n.59+1124T>G	dbSNP gnomAD v3 gnomAD v4
12	g.53973774A>G	CA385105357	HOTAIR,HOXC11	c.533A>G (p.Lys178Arg) n.59+1124T>C
12	g.53973774A>T	CA385105358	HOTAIR,HOXC11	c.533A>T (p.Lys178Met) n.59+1124T>A
12	g.53973775G>A	CA479965382	HOTAIR,HOXC11	c.534G>A (p.Lys178=) n.59+1123C>T
12	g.53973775G>C	CA385105364	HOTAIR,HOXC11	c.534G>C (p.Lys178Asn) n.59+1123C>G
12	g.53973775G>T	CA385105367	HOTAIR,HOXC11	c.534G>T (p.Lys178Asn) n.59+1123C>A
12	g.53973779dup	CA2619096536	HOTAIR,HOXC11	c.538dup (p.Glu180GlyfsTer15) n.59+1123dup	gnomAD v4
12	g.53973776G>A	CA385105370	HOTAIR,HOXC11	c.535G>A (p.Gly179Arg) n.59+1122C>T
12	g.53973776G>C	CA385105372	HOTAIR,HOXC11	c.535G>C (p.Gly179Arg) n.59+1122C>G
12	g.53973776G>T	CA385105373	HOTAIR,HOXC11	c.535G>T (p.Gly179Trp) n.59+1122C>A
12	g.53973777G>A	CA385105376	HOTAIR,HOXC11	c.536G>A (p.Gly179Glu) n.59+1121C>T	gnomAD v4
12	g.53973777G>C	CA385105379	HOTAIR,HOXC11	c.536G>C (p.Gly179Ala) n.59+1121C>G
12	g.53973777G>T	CA385105381	HOTAIR,HOXC11	c.536G>T (p.Gly179Val) n.59+1121C>A
12	g.53973778G>A	CA6604264	HOTAIR,HOXC11	c.537G>A (p.Gly179=) n.59+1120C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973778G>C	CA479965383	HOTAIR,HOXC11	c.537G>C (p.Gly179=) n.59+1120C>G
12	g.53973778G=	CA2037241194	HOTAIR,HOXC11	c.537G= (p.Gly179=) n.59+1120C=
12	g.53973778G>T	CA479965384	HOTAIR,HOXC11	c.537G>T (p.Gly179=) n.59+1120C>A	COSMIC
12	g.53973779G>A	CA385105387	HOTAIR,HOXC11	c.538G>A (p.Glu180Lys) n.59+1119C>T
12	g.53973779G>C	CA385105389	HOTAIR,HOXC11	c.538G>C (p.Glu180Gln) n.59+1119C>G	gnomAD v4
12	g.53973779G>T	CA385105391	HOTAIR,HOXC11	c.538G>T (p.Glu180Ter) n.59+1119C>A	COSMIC
12	g.53973780A>C	CA385105394	HOTAIR,HOXC11	c.539A>C (p.Glu180Ala) n.59+1118T>G
12	g.53973780A>G	CA385105395	HOTAIR,HOXC11	c.539A>G (p.Glu180Gly) n.59+1118T>C
12	g.53973780A>T	CA385105400	HOTAIR,HOXC11	c.539A>T (p.Glu180Val) n.59+1118T>A
12	g.53973780_53973808delinsAGCCCGAGGCACCCCCGGCCTCGGGACTG	CA2037241196	HOTAIR,HOXC11	c.539_567delinsAGCCCGAGGCACCCCCGGCCTCGGGACTG (p.Glu180=) n.59+1090_59+1118delinsCAGTCCCGAGGCCGGGGGTGCCTCGGGCT
12	g.53973781G>A	CA237398023	HOTAIR,HOXC11	c.540G>A (p.Glu180=) n.59+1117C>T	dbSNP gnomAD v2 gnomAD v4
12	g.53973781G>C	CA385105402	HOTAIR,HOXC11	c.540G>C (p.Glu180Asp) n.59+1117C>G
12	g.53973781G=	CA2037241201	HOTAIR,HOXC11	c.540G= (p.Glu180=) n.59+1117C=
12	g.53973781G>T	CA385105404	HOTAIR,HOXC11	c.540G>T (p.Glu180Asp) n.59+1117C>A
12	g.53973783_53973810del	CA6604265	HOTAIR,HOXC11	c.542_569del (p.Pro181ArgfsTer?) n.59+1090_59+1117del	dbSNP ExAC
12	g.53973782C>A	CA385105407	HOTAIR,HOXC11	c.541C>A (p.Pro181Thr) n.59+1116G>T
12	g.53973782C=	CA2037241205	HOTAIR,HOXC11	c.541C= (p.Pro181=) n.59+1116G=
12	g.53973782C>G	CA385105408	HOTAIR,HOXC11	c.541C>G (p.Pro181Ala) n.59+1116G>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973782C>T	CA6604266	HOTAIR,HOXC11	c.541C>T (p.Pro181Ser) n.59+1116G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973783C>A	CA385105411	HOTAIR,HOXC11	c.542C>A (p.Pro181His) n.59+1115G>T
12	g.53973783C>G	CA385105412	HOTAIR,HOXC11	c.542C>G (p.Pro181Arg) n.59+1115G>C
12	g.53973783C>T	CA385105415	HOTAIR,HOXC11	c.542C>T (p.Pro181Leu) n.59+1115G>A	gnomAD v4
12	g.53973784C>A	CA479965385	HOTAIR,HOXC11	c.543C>A (p.Pro181=) n.59+1114G>T	gnomAD v4
12	g.53973784C=	CA2037241208	HOTAIR,HOXC11	c.543C= (p.Pro181=) n.59+1114G=
12	g.53973784C>G	CA479965386	HOTAIR,HOXC11	c.543C>G (p.Pro181=) n.59+1114G>C	gnomAD v4
12	g.53973784C>T	CA6604267	HOTAIR,HOXC11	c.543C>T (p.Pro181=) n.59+1114G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973785G>A	CA385105421	HOTAIR,HOXC11	c.544G>A (p.Glu182Lys) n.59+1113C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973785G>C	CA385105423	HOTAIR,HOXC11	c.544G>C (p.Glu182Gln) n.59+1113C>G
12	g.53973785G=	CA2037241211	HOTAIR,HOXC11	c.544G= (p.Glu182=) n.59+1113C=
12	g.53973785G>T	CA385105426	HOTAIR,HOXC11	c.544G>T (p.Glu182Ter) n.59+1113C>A
12	g.53973786A=	CA2037241214	HOTAIR,HOXC11	c.545A= (p.Glu182=) n.59+1112T=
12	g.53973786A>C	CA385105427	HOTAIR,HOXC11	c.545A>C (p.Glu182Ala) n.59+1112T>G	gnomAD v4
12	g.53973786A>G	CA385105428	HOTAIR,HOXC11	c.545A>G (p.Glu182Gly) n.59+1112T>C
12	g.53973786A>T	CA385105429	HOTAIR,HOXC11	c.545A>T (p.Glu182Val) n.59+1112T>A	dbSNP
12	g.53973787G>A	CA479965387	HOTAIR,HOXC11	c.546G>A (p.Glu182=) n.59+1111C>T
12	g.53973787G>C	CA385105430	HOTAIR,HOXC11	c.546G>C (p.Glu182Asp) n.59+1111C>G
12	g.53973787G>T	CA385105431	HOTAIR,HOXC11	c.546G>T (p.Glu182Asp) n.59+1111C>A
12	g.53973788G>A	CA385105433	HOTAIR,HOXC11	c.547G>A (p.Ala183Thr) n.59+1110C>T	gnomAD v4
12	g.53973788G>C	CA385105436	HOTAIR,HOXC11	c.547G>C (p.Ala183Pro) n.59+1110C>G
12	g.53973788G>T	CA385105435	HOTAIR,HOXC11	c.547G>T (p.Ala183Ser) n.59+1110C>A
12	g.53973789C>A	CA385105439	HOTAIR,HOXC11	c.548C>A (p.Ala183Glu) n.59+1109G>T
12	g.53973789C>G	CA385105440	HOTAIR,HOXC11	c.548C>G (p.Ala183Gly) n.59+1109G>C
12	g.53973789C>T	CA385105441	HOTAIR,HOXC11	c.548C>T (p.Ala183Val) n.59+1109G>A
12	g.53973790A=	CA2037241218	HOTAIR,HOXC11	c.549A= (p.Ala183=) n.59+1108T=
12	g.53973790A>C	CA479965388	HOTAIR,HOXC11	c.549A>C (p.Ala183=) n.59+1108T>G	dbSNP
12	g.53973790A>G	CA479965389	HOTAIR,HOXC11	c.549A>G (p.Ala183=) n.59+1108T>C
12	g.53973790A>T	CA479965390	HOTAIR,HOXC11	c.549A>T (p.Ala183=) n.59+1108T>A	dbSNP
12	g.53973791C>A	CA385105442	HOTAIR,HOXC11	c.550C>A (p.Pro184Thr) n.59+1107G>T	gnomAD v4
12	g.53973791C=	CA2037241221	HOTAIR,HOXC11	c.550C= (p.Pro184=) n.59+1107G=
12	g.53973791C>G	CA385105444	HOTAIR,HOXC11	c.550C>G (p.Pro184Ala) n.59+1107G>C	gnomAD v4
12	g.53973791C>T	CA6604268	HOTAIR,HOXC11	c.550C>T (p.Pro184Ser) n.59+1107G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973795dup	CA2619096564	HOTAIR,HOXC11	c.554dup (p.Ala186GlyfsTer9) n.59+1107dup	gnomAD v4
12	g.53973792C>A	CA385105449	HOTAIR,HOXC11	c.551C>A (p.Pro184His) n.59+1106G>T
12	g.53973792C>G	CA385105451	HOTAIR,HOXC11	c.551C>G (p.Pro184Arg) n.59+1106G>C
12	g.53973792C>T	CA385105453	HOTAIR,HOXC11	c.551C>T (p.Pro184Leu) n.59+1106G>A	COSMIC
12	g.53973793C>A	CA479965392	HOTAIR,HOXC11	c.552C>A (p.Pro184=) n.59+1105G>T
12	g.53973793C>G	CA479965393	HOTAIR,HOXC11	c.552C>G (p.Pro184=) n.59+1105G>C
12	g.53973793C>T	CA479965391	HOTAIR,HOXC11	c.552C>T (p.Pro184=) n.59+1105G>A	gnomAD v4
12	g.53973794C>A	CA385105457	HOTAIR,HOXC11	c.553C>A (p.Pro185Thr) n.59+1104G>T
12	g.53973794C>G	CA385105461	HOTAIR,HOXC11	c.553C>G (p.Pro185Ala) n.59+1104G>C
12	g.53973794C>T	CA385105455	HOTAIR,HOXC11	c.553C>T (p.Pro185Ser) n.59+1104G>A
12	g.53973795C>A	CA385105464	HOTAIR,HOXC11	c.554C>A (p.Pro185Gln) n.59+1103G>T	dbSNP gnomAD v4
12	g.53973795C=	CA2037241223	HOTAIR,HOXC11	c.554C= (p.Pro185=) n.59+1103G=
12	g.53973795C>G	CA385105466	HOTAIR,HOXC11	c.554C>G (p.Pro185Arg) n.59+1103G>C	gnomAD v4
12	g.53973795C>T	CA6604269	HOTAIR,HOXC11	c.554C>T (p.Pro185Leu) n.59+1103G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973795_53973816delinsCGGCCTCGGGACTGGCGTCCCG	CA2037241225	HOTAIR,HOXC11	c.554_575delinsCGGCCTCGGGACTGGCGTCCCG (p.Pro185=) n.59+1082_59+1103delinsCGGGACGCCAGTCCCGAGGCCG
12	g.53973795_53973796insTT	CA2575177060	HOTAIR,HOXC11	c.554_555insTT (p.Ala186TrpfsTer?) n.59+1102_59+1103insAA	gnomAD v4
12	g.53973796G>A	CA479965394	HOTAIR,HOXC11	c.555G>A (p.Pro185=) n.59+1102C>T	dbSNP gnomAD v2 gnomAD v4
12	g.53973796G>C	CA479965395	HOTAIR,HOXC11	c.555G>C (p.Pro185=) n.59+1102C>G	gnomAD v4
12	g.53973796G=	CA2037241229	HOTAIR,HOXC11	c.555G= (p.Pro185=) n.59+1102C=
12	g.53973796G>T	CA479965396	HOTAIR,HOXC11	c.555G>T (p.Pro185=) n.59+1102C>A
12	g.53973799_53973819del	CA919091698	HOTAIR,HOXC11	c.558_578del (p.Ser187_Ala193del) n.59+1082_59+1102del	dbSNP
12	g.53973797G>A	CA385105471	HOTAIR,HOXC11	c.556G>A (p.Ala186Thr) n.59+1101C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973797G>C	CA385105474	HOTAIR,HOXC11	c.556G>C (p.Ala186Pro) n.59+1101C>G
12	g.53973797G=	CA2037241231	HOTAIR,HOXC11	c.556G= (p.Ala186=) n.59+1101C=
12	g.53973797G>T	CA385105475	HOTAIR,HOXC11	c.556G>T (p.Ala186Ser) n.59+1101C>A
12	g.53973798C>A	CA385105479	HOTAIR,HOXC11	c.557C>A (p.Ala186Asp) n.59+1100G>T
12	g.53973798C>G	CA385105483	HOTAIR,HOXC11	c.557C>G (p.Ala186Gly) n.59+1100G>C
12	g.53973798C>T	CA385105486	HOTAIR,HOXC11	c.557C>T (p.Ala186Val) n.59+1100G>A
12	g.53973799C>A	CA479965397	HOTAIR,HOXC11	c.558C>A (p.Ala186=) n.59+1099G>T
12	g.53973799C>G	CA479965398	HOTAIR,HOXC11	c.558C>G (p.Ala186=) n.59+1099G>C
12	g.53973799C>T	CA479965399	HOTAIR,HOXC11	c.558C>T (p.Ala186=) n.59+1099G>A
12	g.53973800_53973801del	CA1139770127	HOTAIR,HOXC11	c.559_560del (p.Ser187GlyfsTer7) n.59+1098_59+1099del
12	g.53973800T>A	CA385105490	HOTAIR,HOXC11	c.559T>A (p.Ser187Thr) n.59+1098A>T	gnomAD v4
12	g.53973800T>C	CA385105493	HOTAIR,HOXC11	c.559T>C (p.Ser187Pro) n.59+1098A>G
12	g.53973800T>G	CA385105495	HOTAIR,HOXC11	c.559T>G (p.Ser187Ala) n.59+1098A>C	gnomAD v4
12	g.53973800_53973801insGGGGGGGGGG	CA2619096603	HOTAIR,HOXC11	c.559_560insGGGGGGGGGG (p.Ser187TrpfsTer11) n.59+1097_59+1098insCCCCCCCCCC	gnomAD v4
12	g.53973800_53973801insGGGGGGGGGGGGGG	CA2619096602	HOTAIR,HOXC11	c.559_560insGGGGGGGGGGGGGG (p.Ser187TrpfsTer?) n.59+1097_59+1098insCCCCCCCCCCCCCC	gnomAD v4
12	g.53973800_53973801insGGGGGGGGGGGGGGGGGGGG	CA2619096601	HOTAIR,HOXC11	c.559_560insGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer?) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCC	gnomAD v4
12	g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGG	CA2619096600	HOTAIR,HOXC11	c.559_560insGGGGGGGGGGGGGGGGGGGGG (p.Ser187delinsTrpGlyGlyGlyGlyGlyGlyAla) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCC	gnomAD v4
12	g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGG	CA2619096599	HOTAIR,HOXC11	c.559_560insGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer?) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCC	gnomAD v4
12	g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGG	CA2619096598	HOTAIR,HOXC11	c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer16) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCC	gnomAD v4
12	g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGGG	CA2619096594	HOTAIR,HOXC11	c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer?) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCCC	gnomAD v4
12	g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGGGGG	CA2619096596	HOTAIR,HOXC11	c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer17) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCCCCC	gnomAD v4
12	g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	CA1139770129	HOTAIR,HOXC11	c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer?) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
12	g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	CA2497028806	HOTAIR,HOXC11	c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187delinsTrpGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyAla) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
12	g.53973801del	CA1139770128	HOTAIR,HOXC11	c.560del (p.Ser187TrpfsTer?) n.59+1097del	gnomAD v4
12	g.53973801C>A	CA385105501	HOTAIR,HOXC11	c.560C>A (p.Ser187Ter) n.59+1097G>T
12	g.53973801C=	CA2037241232	HOTAIR,HOXC11	c.560C= (p.Ser187=) n.59+1097G=
12	g.53973801C>G	CA385105503	HOTAIR,HOXC11	c.560C>G (p.Ser187Trp) n.59+1097G>C	dbSNP gnomAD v4
12	g.53973801C>T	CA237398053	HOTAIR,HOXC11	c.560C>T (p.Ser187Leu) n.59+1097G>A	dbSNP gnomAD v3 gnomAD v4
12	g.53973801_53973802insAGGGGGGGGGGGGGGG	CA1139770130	HOTAIR,HOXC11	c.560_561insAGGGGGGGGGGGGGGG (p.Leu189GlyfsTer11) n.59+1096_59+1097insCCCCCCCCCCCCCCCT
12	g.53973802G>A	CA479965400	HOTAIR,HOXC11	c.561G>A (p.Ser187=) n.59+1096C>T	dbSNP gnomAD v3 gnomAD v4
12	g.53973802G>C	CA479965401	HOTAIR,HOXC11	c.561G>C (p.Ser187=) n.59+1096C>G
12	g.53973802G=	CA2037241235	HOTAIR,HOXC11	c.561G= (p.Ser187=) n.59+1096C=
12	g.53973802G>T	CA479965402	HOTAIR,HOXC11	c.561G>T (p.Ser187=) n.59+1096C>A	gnomAD v4
12	g.53973802_53973804dup	CA1139770303	HOTAIR,HOXC11	c.561_563dup (p.Gly188_Leu189insGly) n.59+1094_59+1096dup
12	g.53973803G>A	CA385105506	HOTAIR,HOXC11	c.562G>A (p.Gly188Arg) n.59+1095C>T
12	g.53973803G>C	CA385105508	HOTAIR,HOXC11	c.562G>C (p.Gly188Arg) n.59+1095C>G
12	g.53973803G>T	CA385105510	HOTAIR,HOXC11	c.562G>T (p.Gly188Ter) n.59+1095C>A

Number of alleles fetched