Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.53973826_53973843del	CA2619096664	HOTAIR,HOXC11	c.585_602del (p.Gly196_Ala201del) n.59+1060_59+1077del	gnomAD v4
12	g.53973838_53973843dup	CA2037241276	HOTAIR,HOXC11	c.597_602dup (p.Ala201_Glu202insGluAla) n.59+1060_59+1065dup	dbSNP
12	g.53973836G>A	CA385105664	HOTAIR,HOXC11	c.595G>A (p.Ala199Thr) n.59+1062C>T	gnomAD v4
12	g.53973836G>C	CA385105667	HOTAIR,HOXC11	c.595G>C (p.Ala199Pro) n.59+1062C>G
12	g.53973836G>T	CA385105669	HOTAIR,HOXC11	c.595G>T (p.Ala199Ser) n.59+1062C>A	gnomAD v4
12	g.53973837C>A	CA385105672	HOTAIR,HOXC11	c.596C>A (p.Ala199Glu) n.59+1061G>T	dbSNP
12	g.53973837C=	CA2037241278	HOTAIR,HOXC11	c.596C= (p.Ala199=) n.59+1061G=
12	g.53973837C>G	CA385105674	HOTAIR,HOXC11	c.596C>G (p.Ala199Gly) n.59+1061G>C
12	g.53973837C>T	CA385105676	HOTAIR,HOXC11	c.596C>T (p.Ala199Val) n.59+1061G>A	dbSNP gnomAD v2 gnomAD v4
12	g.53973838G>A	CA479965431	HOTAIR,HOXC11	c.597G>A (p.Ala199=) n.59+1060C>T
12	g.53973838G>C	CA479965432	HOTAIR,HOXC11	c.597G>C (p.Ala199=) n.59+1060C>G
12	g.53973838G>T	CA479965433	HOTAIR,HOXC11	c.597G>T (p.Ala199=) n.59+1060C>A	gnomAD v4
12	g.53973838_53973844delinsGGAGGCT	CA2037241280	HOTAIR,HOXC11	c.597_603delinsGGAGGCT (p.Ala199=) n.59+1054_59+1060delinsAGCCTCC
12	g.53973839G>A	CA385105679	HOTAIR,HOXC11	c.598G>A (p.Glu200Lys) n.59+1059C>T
12	g.53973839G>C	CA385105682	HOTAIR,HOXC11	c.598G>C (p.Glu200Gln) n.59+1059C>G	dbSNP gnomAD v2
12	g.53973839G=	CA2037241283	HOTAIR,HOXC11	c.598G= (p.Glu200=) n.59+1059C=
12	g.53973839G>T	CA385105683	HOTAIR,HOXC11	c.598G>T (p.Glu200Ter) n.59+1059C>A
12	g.53973843_53973848del	CA2037241282	HOTAIR,HOXC11	c.602_607del (p.Ala201_Glu202del) n.59+1054_59+1059del	dbSNP
12	g.53973840A=	CA2037241285	HOTAIR,HOXC11	c.599A= (p.Glu200=) n.59+1058T=
12	g.53973840A>C	CA385105691	HOTAIR,HOXC11	c.599A>C (p.Glu200Ala) n.59+1058T>G	dbSNP
12	g.53973840A>G	CA385105688	HOTAIR,HOXC11	c.599A>G (p.Glu200Gly) n.59+1058T>C
12	g.53973840A>T	CA385105686	HOTAIR,HOXC11	c.599A>T (p.Glu200Val) n.59+1058T>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973841G>A	CA479965434	HOTAIR,HOXC11	c.600G>A (p.Glu200=) n.59+1057C>T
12	g.53973841G>C	CA385105693	HOTAIR,HOXC11	c.600G>C (p.Glu200Asp) n.59+1057C>G
12	g.53973841G>T	CA385105695	HOTAIR,HOXC11	c.600G>T (p.Glu200Asp) n.59+1057C>A
12	g.53973842G>A	CA385105699	HOTAIR,HOXC11	c.601G>A (p.Ala201Thr) n.59+1056C>T	dbSNP
12	g.53973842G>C	CA385105700	HOTAIR,HOXC11	c.601G>C (p.Ala201Pro) n.59+1056C>G
12	g.53973842G=	CA2037241287	HOTAIR,HOXC11	c.601G= (p.Ala201=) n.59+1056C=
12	g.53973842G>T	CA385105701	HOTAIR,HOXC11	c.601G>T (p.Ala201Ser) n.59+1056C>A	gnomAD v4
12	g.53973843C>A	CA385105704	HOTAIR,HOXC11	c.602C>A (p.Ala201Asp) n.59+1055G>T	gnomAD v4
12	g.53973843C>G	CA385105706	HOTAIR,HOXC11	c.602C>G (p.Ala201Gly) n.59+1055G>C
12	g.53973843C>T	CA385105708	HOTAIR,HOXC11	c.602C>T (p.Ala201Val) n.59+1055G>A	gnomAD v4
12	g.53973844T>A	CA479965435	HOTAIR,HOXC11	c.603T>A (p.Ala201=) n.59+1054A>T
12	g.53973844T>C	CA479965436	HOTAIR,HOXC11	c.603T>C (p.Ala201=) n.59+1054A>G
12	g.53973844T>G	CA237398072	HOTAIR,HOXC11	c.603T>G (p.Ala201=) n.59+1054A>C	dbSNP
12	g.53973844T=	CA2037241290	HOTAIR,HOXC11	c.603T= (p.Ala201=) n.59+1054A=
12	g.53973844_53973847delinsTGAG	CA2037241289	HOTAIR,HOXC11	c.603_606delinsTGAG (p.Ala201=) n.59+1051_59+1054delinsCTCA
12	g.53973845G>A	CA385105720	HOTAIR,HOXC11	c.604G>A (p.Glu202Lys) n.59+1053C>T
12	g.53973845G>C	CA385105718	HOTAIR,HOXC11	c.604G>C (p.Glu202Gln) n.59+1053C>G
12	g.53973845G>T	CA385105723	HOTAIR,HOXC11	c.604G>T (p.Glu202Ter) n.59+1053C>A
12	g.53973851_53973853del	CA6604280	HOTAIR,HOXC11	c.610_612del (p.Glu204del) n.59+1051_59+1053del	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973846A=	CA2037241294	HOTAIR,HOXC11	c.605A= (p.Glu202=) n.59+1052T=
12	g.53973846A>C	CA385105725	HOTAIR,HOXC11	c.605A>C (p.Glu202Ala) n.59+1052T>G
12	g.53973846A>G	CA385105727	HOTAIR,HOXC11	c.605A>G (p.Glu202Gly) n.59+1052T>C	dbSNP gnomAD v4
12	g.53973846A>T	CA385105729	HOTAIR,HOXC11	c.605A>T (p.Glu202Val) n.59+1052T>A
12	g.53973847G>A	CA479965437	HOTAIR,HOXC11	c.606G>A (p.Glu202=) n.59+1051C>T	dbSNP gnomAD v4
12	g.53973847G>C	CA385105733	HOTAIR,HOXC11	c.606G>C (p.Glu202Asp) n.59+1051C>G
12	g.53973847G=	CA2037241298	HOTAIR,HOXC11	c.606G= (p.Glu202=) n.59+1051C=
12	g.53973847G>T	CA385105734	HOTAIR,HOXC11	c.606G>T (p.Glu202Asp) n.59+1051C>A	gnomAD v4 COSMIC
12	g.53973848G>A	CA385105742	HOTAIR,HOXC11	c.607G>A (p.Glu203Lys) n.59+1050C>T	gnomAD v4
12	g.53973848G>C	CA385105739	HOTAIR,HOXC11	c.607G>C (p.Glu203Gln) n.59+1050C>G
12	g.53973848G>T	CA385105736	HOTAIR,HOXC11	c.607G>T (p.Glu203Ter) n.59+1050C>A
12	g.53973849A>C	CA385105746	HOTAIR,HOXC11	c.608A>C (p.Glu203Ala) n.59+1049T>G
12	g.53973849A>G	CA385105747	HOTAIR,HOXC11	c.608A>G (p.Glu203Gly) n.59+1049T>C
12	g.53973849A>T	CA385105750	HOTAIR,HOXC11	c.608A>T (p.Glu203Val) n.59+1049T>A
12	g.53973850G>A	CA479965438	HOTAIR,HOXC11	c.609G>A (p.Glu203=) n.59+1048C>T	gnomAD v4
12	g.53973850G>C	CA385105753	HOTAIR,HOXC11	c.609G>C (p.Glu203Asp) n.59+1048C>G
12	g.53973850G>T	CA385105755	HOTAIR,HOXC11	c.609G>T (p.Glu203Asp) n.59+1048C>A
12	g.53973851G>A	CA6604281	HOTAIR,HOXC11	c.610G>A (p.Glu204Lys) n.59+1047C>T	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.53973851G>C	CA385105758	HOTAIR,HOXC11	c.610G>C (p.Glu204Gln) n.59+1047C>G
12	g.53973851G=	CA2037241302	HOTAIR,HOXC11	c.610G= (p.Glu204=) n.59+1047C=
12	g.53973851G>T	CA385105761	HOTAIR,HOXC11	c.610G>T (p.Glu204Ter) n.59+1047C>A	gnomAD v4
12	g.53973852A>C	CA385105762	HOTAIR,HOXC11	c.611A>C (p.Glu204Ala) n.59+1046T>G
12	g.53973852A>G	CA385105766	HOTAIR,HOXC11	c.611A>G (p.Glu204Gly) n.59+1046T>C
12	g.53973852A>T	CA385105765	HOTAIR,HOXC11	c.611A>T (p.Glu204Val) n.59+1046T>A
12	g.53973853G>A	CA479965439	HOTAIR,HOXC11	c.612G>A (p.Glu204=) n.59+1045C>T
12	g.53973853G>C	CA385105768	HOTAIR,HOXC11	c.612G>C (p.Glu204Asp) n.59+1045C>G
12	g.53973853G>T	CA385105769	HOTAIR,HOXC11	c.612G>T (p.Glu204Asp) n.59+1045C>A	gnomAD v4
12	g.53973854A>C	CA385105770	HOTAIR,HOXC11	c.613A>C (p.Asn205His) n.59+1044T>G
12	g.53973854A>G	CA385105771	HOTAIR,HOXC11	c.613A>G (p.Asn205Asp) n.59+1044T>C
12	g.53973854A>T	CA385105772	HOTAIR,HOXC11	c.613A>T (p.Asn205Tyr) n.59+1044T>A
12	g.53973855A>C	CA385105774	HOTAIR,HOXC11	c.614A>C (p.Asn205Thr) n.59+1043T>G
12	g.53973855A>G	CA385105775	HOTAIR,HOXC11	c.614A>G (p.Asn205Ser) n.59+1043T>C
12	g.53973855A>T	CA385105776	HOTAIR,HOXC11	c.614A>T (p.Asn205Ile) n.59+1043T>A
12	g.53973856C>A	CA385105778	HOTAIR,HOXC11	c.615C>A (p.Asn205Lys) n.59+1042G>T	gnomAD v4
12	g.53973856C=	CA2037241305	HOTAIR,HOXC11	c.615C= (p.Asn205=) n.59+1042G=
12	g.53973856C>G	CA385105779	HOTAIR,HOXC11	c.615C>G (p.Asn205Lys) n.59+1042G>C
12	g.53973856C>T	CA479965440	HOTAIR,HOXC11	c.615C>T (p.Asn205=) n.59+1042G>A	dbSNP gnomAD v4
12	g.53973857A>C	CA385105780	HOTAIR,HOXC11	c.616A>C (p.Thr206Pro) n.59+1041T>G
12	g.53973857A>G	CA385105781	HOTAIR,HOXC11	c.616A>G (p.Thr206Ala) n.59+1041T>C
12	g.53973857A>T	CA385105782	HOTAIR,HOXC11	c.616A>T (p.Thr206Ser) n.59+1041T>A
12	g.53973858C>A	CA385105783	HOTAIR,HOXC11	c.617C>A (p.Thr206Lys) n.59+1040G>T
12	g.53973858C=	CA2037241309	HOTAIR,HOXC11	c.617C= (p.Thr206=) n.59+1040G=
12	g.53973858C>G	CA385105785	HOTAIR,HOXC11	c.617C>G (p.Thr206Arg) n.59+1040G>C	dbSNP
12	g.53973858C>T	CA385105784	HOTAIR,HOXC11	c.617C>T (p.Thr206Ile) n.59+1040G>A
12	g.53973859A>C	CA479965443	HOTAIR,HOXC11	c.618A>C (p.Thr206=) n.59+1039T>G
12	g.53973859A>G	CA479965441	HOTAIR,HOXC11	c.618A>G (p.Thr206=) n.59+1039T>C	gnomAD v4
12	g.53973859A>T	CA479965442	HOTAIR,HOXC11	c.618A>T (p.Thr206=) n.59+1039T>A
12	g.53973860A>C	CA385105789	HOTAIR,HOXC11	c.619A>C (p.Asn207His) n.59+1038T>G
12	g.53973860A>G	CA385105790	HOTAIR,HOXC11	c.619A>G (p.Asn207Asp) n.59+1038T>C
12	g.53973860A>T	CA385105791	HOTAIR,HOXC11	c.619A>T (p.Asn207Tyr) n.59+1038T>A	COSMIC
12	g.53973861A>C	CA385105793	HOTAIR,HOXC11	c.620A>C (p.Asn207Thr) n.59+1037T>G
12	g.53973861A>G	CA385105796	HOTAIR,HOXC11	c.620A>G (p.Asn207Ser) n.59+1037T>C
12	g.53973861A>T	CA385105798	HOTAIR,HOXC11	c.620A>T (p.Asn207Ile) n.59+1037T>A
12	g.53973862T>A	CA385105800	HOTAIR,HOXC11	c.621T>A (p.Asn207Lys) n.59+1036A>T
12	g.53973862T>C	CA479965444	HOTAIR,HOXC11	c.621T>C (p.Asn207=) n.59+1036A>G
12	g.53973862T>G	CA385105802	HOTAIR,HOXC11	c.621T>G (p.Asn207Lys) n.59+1036A>C
12	g.53973863C>A	CA385105805	HOTAIR,HOXC11	c.622C>A (p.Pro208Thr) n.59+1035G>T	gnomAD v4
12	g.53973863C=	CA2037241312	HOTAIR,HOXC11	c.622C= (p.Pro208=) n.59+1035G=
12	g.53973863C>G	CA385105807	HOTAIR,HOXC11	c.622C>G (p.Pro208Ala) n.59+1035G>C
12	g.53973863C>T	CA237398078	HOTAIR,HOXC11	c.622C>T (p.Pro208Ser) n.59+1035G>A	dbSNP
12	g.53973864C>A	CA385105815	HOTAIR,HOXC11	c.623C>A (p.Pro208His) n.59+1034G>T
12	g.53973864C>G	CA385105817	HOTAIR,HOXC11	c.623C>G (p.Pro208Arg) n.59+1034G>C
12	g.53973864C>T	CA385105813	HOTAIR,HOXC11	c.623C>T (p.Pro208Leu) n.59+1034G>A
12	g.53973865C>A	CA479965445	HOTAIR,HOXC11	c.624C>A (p.Pro208=) n.59+1033G>T	gnomAD v4
12	g.53973865C>G	CA479965446	HOTAIR,HOXC11	c.624C>G (p.Pro208=) n.59+1033G>C
12	g.53973865C>T	CA479965447	HOTAIR,HOXC11	c.624C>T (p.Pro208=) n.59+1033G>A
12	g.53973866A>C	CA385105821	HOTAIR,HOXC11	c.625A>C (p.Ser209Arg) n.59+1032T>G
12	g.53973866A>G	CA385105823	HOTAIR,HOXC11	c.625A>G (p.Ser209Gly) n.59+1032T>C
12	g.53973866A>T	CA385105825	HOTAIR,HOXC11	c.625A>T (p.Ser209Cys) n.59+1032T>A	gnomAD v4
12	g.53973867G>A	CA385105827	HOTAIR,HOXC11	c.626G>A (p.Ser209Asn) n.59+1031C>T
12	g.53973867G>C	CA385105830	HOTAIR,HOXC11	c.626G>C (p.Ser209Thr) n.59+1031C>G
12	g.53973867G=	CA2037241315	HOTAIR,HOXC11	c.626G= (p.Ser209=) n.59+1031C=
12	g.53973867G>T	CA385105832	HOTAIR,HOXC11	c.626G>T (p.Ser209Ile) n.59+1031C>A	dbSNP gnomAD v4
12	g.53973868C>A	CA385105839	HOTAIR,HOXC11	c.627C>A (p.Ser209Arg) n.59+1030G>T	gnomAD v4
12	g.53973868C>G	CA385105836	HOTAIR,HOXC11	c.627C>G (p.Ser209Arg) n.59+1030G>C	gnomAD v4
12	g.53973868C>T	CA479965448	HOTAIR,HOXC11	c.627C>T (p.Ser209=) n.59+1030G>A	gnomAD v4
12	g.53973869T>A	CA385105842	HOTAIR,HOXC11	c.628T>A (p.Ser210Thr) n.59+1029A>T
12	g.53973869T>C	CA385105843	HOTAIR,HOXC11	c.628T>C (p.Ser210Pro) n.59+1029A>G
12	g.53973869T>G	CA385105846	HOTAIR,HOXC11	c.628T>G (p.Ser210Ala) n.59+1029A>C
12	g.53973870C>A	CA385105848	HOTAIR,HOXC11	c.629C>A (p.Ser210Ter) n.59+1028G>T	dbSNP
12	g.53973870C=	CA2037241317	HOTAIR,HOXC11	c.629C= (p.Ser210=) n.59+1028G=
12	g.53973870C>G	CA385105850	HOTAIR,HOXC11	c.629C>G (p.Ser210Trp) n.59+1028G>C
12	g.53973870C>T	CA237398079	HOTAIR,HOXC11	c.629C>T (p.Ser210Leu) n.59+1028G>A	dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.53973871G>A	CA479965449	HOTAIR,HOXC11	c.630G>A (p.Ser210=) n.59+1027C>T	dbSNP gnomAD v3 gnomAD v4
12	g.53973871G>C	CA479965450	HOTAIR,HOXC11	c.630G>C (p.Ser210=) n.59+1027C>G	dbSNP gnomAD v4
12	g.53973871G=	CA2037241321	HOTAIR,HOXC11	c.630G= (p.Ser210=) n.59+1027C=
12	g.53973871G>T	CA479965451	HOTAIR,HOXC11	c.630G>T (p.Ser210=) n.59+1027C>A	dbSNP gnomAD v2 gnomAD v4
12	g.53973872T>A	CA385105860	HOTAIR,HOXC11	c.631T>A (p.Ser211Thr) n.59+1026A>T
12	g.53973872T>C	CA385105855	HOTAIR,HOXC11	c.631T>C (p.Ser211Pro) n.59+1026A>G	gnomAD v4
12	g.53973872T>G	CA385105858	HOTAIR,HOXC11	c.631T>G (p.Ser211Ala) n.59+1026A>C
12	g.53973873C>A	CA385105861	HOTAIR,HOXC11	c.632C>A (p.Ser211Tyr) n.59+1025G>T
12	g.53973873C>G	CA385105864	HOTAIR,HOXC11	c.632C>G (p.Ser211Cys) n.59+1025G>C
12	g.53973873C>T	CA385105867	HOTAIR,HOXC11	c.632C>T (p.Ser211Phe) n.59+1025G>A
12	g.53973874C>A	CA479965452	HOTAIR,HOXC11	c.633C>A (p.Ser211=) n.59+1024G>T	dbSNP gnomAD v3 gnomAD v4
12	g.53973874C=	CA2037241323	HOTAIR,HOXC11	c.633C= (p.Ser211=) n.59+1024G=
12	g.53973874C>G	CA479965453	HOTAIR,HOXC11	c.633C>G (p.Ser211=) n.59+1024G>C	gnomAD v4
12	g.53973874C>T	CA6604282	HOTAIR,HOXC11	c.633C>T (p.Ser211=) n.59+1024G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973875G>A	CA237398102	HOTAIR,HOXC11	c.634G>A (p.Gly212Ser) n.59+1023C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973875G>C	CA385105875	HOTAIR,HOXC11	c.634G>C (p.Gly212Arg) n.59+1023C>G
12	g.53973875G=	CA2037241325	HOTAIR,HOXC11	c.634G= (p.Gly212=) n.59+1023C=
12	g.53973875G>T	CA385105878	HOTAIR,HOXC11	c.634G>T (p.Gly212Cys) n.59+1023C>A	dbSNP
12	g.53973876G>A	CA385105881	HOTAIR,HOXC11	c.635G>A (p.Gly212Asp) n.59+1022C>T
12	g.53973876G>C	CA385105882	HOTAIR,HOXC11	c.635G>C (p.Gly212Ala) n.59+1022C>G
12	g.53973876G=	CA2037241328	HOTAIR,HOXC11	c.635G= (p.Gly212=) n.59+1022C=
12	g.53973876G>T	CA385105885	HOTAIR,HOXC11	c.635G>T (p.Gly212Val) n.59+1022C>A	dbSNP gnomAD v2 gnomAD v4
12	g.53973877T>A	CA479965454	HOTAIR,HOXC11	c.636T>A (p.Gly212=) n.59+1021A>T
12	g.53973877T>C	CA479965455	HOTAIR,HOXC11	c.636T>C (p.Gly212=) n.59+1021A>G
12	g.53973877T>G	CA479965456	HOTAIR,HOXC11	c.636T>G (p.Gly212=) n.59+1021A>C
12	g.53973878T>A	CA385105888	HOTAIR,HOXC11	c.637T>A (p.Ser213Thr) n.59+1020A>T
12	g.53973878T>C	CA385105890	HOTAIR,HOXC11	c.637T>C (p.Ser213Pro) n.59+1020A>G
12	g.53973878T>G	CA385105891	HOTAIR,HOXC11	c.637T>G (p.Ser213Ala) n.59+1020A>C
12	g.53973879C>A	CA385105901	HOTAIR,HOXC11	c.638C>A (p.Ser213Ter) n.59+1019G>T
12	g.53973879C>G	CA385105895	HOTAIR,HOXC11	c.638C>G (p.Ser213Ter) n.59+1019G>C
12	g.53973879C>T	CA385105898	HOTAIR,HOXC11	c.638C>T (p.Ser213Leu) n.59+1019G>A
12	g.53973880A>C	CA479965457	HOTAIR,HOXC11	c.639A>C (p.Ser213=) n.59+1018T>G
12	g.53973880A>G	CA479965458	HOTAIR,HOXC11	c.639A>G (p.Ser213=) n.59+1018T>C	gnomAD v4
12	g.53973880A>T	CA479965459	HOTAIR,HOXC11	c.639A>T (p.Ser213=) n.59+1018T>A
12	g.53973881G>A	CA385105903	HOTAIR,HOXC11	c.640G>A (p.Ala214Thr) n.59+1017C>T	dbSNP gnomAD v4
12	g.53973881G>C	CA385105904	HOTAIR,HOXC11	c.640G>C (p.Ala214Pro) n.59+1017C>G
12	g.53973881G=	CA2037241331	HOTAIR,HOXC11	c.640G= (p.Ala214=) n.59+1017C=
12	g.53973881G>T	CA385105907	HOTAIR,HOXC11	c.640G>T (p.Ala214Ser) n.59+1017C>A	gnomAD v4
12	g.53973882C>A	CA385105911	HOTAIR,HOXC11	c.641C>A (p.Ala214Asp) n.59+1016G>T
12	g.53973882C>G	CA385105913	HOTAIR,HOXC11	c.641C>G (p.Ala214Gly) n.59+1016G>C
12	g.53973882C>T	CA385105915	HOTAIR,HOXC11	c.641C>T (p.Ala214Val) n.59+1016G>A	gnomAD v4
12	g.53973883C>A	CA479965460	HOTAIR,HOXC11	c.642C>A (p.Ala214=) n.59+1015G>T	gnomAD v4
12	g.53973883C=	CA2037241333	HOTAIR,HOXC11	c.642C= (p.Ala214=) n.59+1015G=
12	g.53973883C>G	CA479965461	HOTAIR,HOXC11	c.642C>G (p.Ala214=) n.59+1015G>C
12	g.53973883C>T	CA479965462	HOTAIR,HOXC11	c.642C>T (p.Ala214=) n.59+1015G>A	dbSNP gnomAD v3 gnomAD v4
12	g.53973884C>A	CA385105921	HOTAIR,HOXC11	c.643C>A (p.His215Asn) n.59+1014G>T	gnomAD v4
12	g.53973884C>G	CA385105918	HOTAIR,HOXC11	c.643C>G (p.His215Asp) n.59+1014G>C	gnomAD v4
12	g.53973884C>T	CA385105919	HOTAIR,HOXC11	c.643C>T (p.His215Tyr) n.59+1014G>A	gnomAD v4
12	g.53973885A>C	CA385105925	HOTAIR,HOXC11	c.644A>C (p.His215Pro) n.59+1013T>G	gnomAD v4
12	g.53973885A>G	CA385105927	HOTAIR,HOXC11	c.644A>G (p.His215Arg) n.59+1013T>C
12	g.53973885A>T	CA385105929	HOTAIR,HOXC11	c.644A>T (p.His215Leu) n.59+1013T>A
12	g.53973886C>A	CA385105931	HOTAIR,HOXC11	c.645C>A (p.His215Gln) n.59+1012G>T
12	g.53973886C>G	CA385105933	HOTAIR,HOXC11	c.645C>G (p.His215Gln) n.59+1012G>C
12	g.53973886C>T	CA479965463	HOTAIR,HOXC11	c.645C>T (p.His215=) n.59+1012G>A	gnomAD v4
12	g.53973887T>A	CA385105939	HOTAIR,HOXC11	c.646T>A (p.Ser216Thr) n.59+1011A>T	dbSNP gnomAD v4
12	g.53973887T>C	CA385105935	HOTAIR,HOXC11	c.646T>C (p.Ser216Pro) n.59+1011A>G
12	g.53973887T>G	CA385105937	HOTAIR,HOXC11	c.646T>G (p.Ser216Ala) n.59+1011A>C
12	g.53973888C>A	CA385105940	HOTAIR,HOXC11	c.647C>A (p.Ser216Tyr) n.59+1010G>T	gnomAD v4
12	g.53973888C=	CA2037241336	HOTAIR,HOXC11	c.647C= (p.Ser216=) n.59+1010G=
12	g.53973888C>G	CA385105941	HOTAIR,HOXC11	c.647C>G (p.Ser216Cys) n.59+1010G>C
12	g.53973888C>T	CA237398125	HOTAIR,HOXC11	c.647C>T (p.Ser216Phe) n.59+1010G>A	dbSNP gnomAD v3 gnomAD v4
12	g.53973889C>A	CA237398128	HOTAIR,HOXC11	c.648C>A (p.Ser216=) n.59+1009G>T	dbSNP
12	g.53973889C=	CA2037241341	HOTAIR,HOXC11	c.648C= (p.Ser216=) n.59+1009G=
12	g.53973889C>G	CA479965465	HOTAIR,HOXC11	c.648C>G (p.Ser216=) n.59+1009G>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973889C>T	CA479965464	HOTAIR,HOXC11	c.648C>T (p.Ser216=) n.59+1009G>A	dbSNP gnomAD v3 gnomAD v4
12	g.53973890G>A	CA385105942	HOTAIR,HOXC11	c.649G>A (p.Val217Met) n.59+1008C>T	dbSNP gnomAD v4
12	g.53973890G>C	CA385105944	HOTAIR,HOXC11	c.649G>C (p.Val217Leu) n.59+1008C>G
12	g.53973890G=	CA2037241347	HOTAIR,HOXC11	c.649G= (p.Val217=) n.59+1008C=
12	g.53973890G>T	CA385105945	HOTAIR,HOXC11	c.649G>T (p.Val217Leu) n.59+1008C>A	gnomAD v4
12	g.53973891T>A	CA385105949	HOTAIR,HOXC11	c.650T>A (p.Val217Glu) n.59+1007A>T
12	g.53973891T>C	CA385105952	HOTAIR,HOXC11	c.650T>C (p.Val217Ala) n.59+1007A>G	gnomAD v3 gnomAD v4
12	g.53973891T>G	CA385105957	HOTAIR,HOXC11	c.650T>G (p.Val217Gly) n.59+1007A>C
12	g.53973892G>A	CA479965466	HOTAIR,HOXC11	c.651G>A (p.Val217=) n.59+1006C>T	gnomAD v4
12	g.53973892G>C	CA479965467	HOTAIR,HOXC11	c.651G>C (p.Val217=) n.59+1006C>G
12	g.53973892G>T	CA479965468	HOTAIR,HOXC11	c.651G>T (p.Val217=) n.59+1006C>A	gnomAD v4
12	g.53973893del	CA2619096797	HOTAIR,HOXC11	c.652del (p.Ala218ProfsTer?) n.59+1006del	gnomAD v4
12	g.53973898_53973909del	CA2619096800	HOTAIR,HOXC11	c.657_668del (p.Glu220_Lys223del) n.59+995_59+1006del	gnomAD v4
12	g.53973893G>A	CA385105961	HOTAIR,HOXC11	c.652G>A (p.Ala218Thr) n.59+1005C>T	dbSNP gnomAD v2 gnomAD v4
12	g.53973893G>C	CA385105963	HOTAIR,HOXC11	c.652G>C (p.Ala218Pro) n.59+1005C>G
12	g.53973893G=	CA2037241349	HOTAIR,HOXC11	c.652G= (p.Ala218=) n.59+1005C=
12	g.53973893G>T	CA385105965	HOTAIR,HOXC11	c.652G>T (p.Ala218Ser) n.59+1005C>A
12	g.53973894C>A	CA385105968	HOTAIR,HOXC11	c.653C>A (p.Ala218Asp) n.59+1004G>T	gnomAD v4
12	g.53973894C>G	CA385105973	HOTAIR,HOXC11	c.653C>G (p.Ala218Gly) n.59+1004G>C
12	g.53973894C>T	CA385105970	HOTAIR,HOXC11	c.653C>T (p.Ala218Val) n.59+1004G>A
12	g.53973895C>A	CA479965469	HOTAIR,HOXC11	c.654C>A (p.Ala218=) n.59+1003G>T	gnomAD v4
12	g.53973895C>G	CA479965470	HOTAIR,HOXC11	c.654C>G (p.Ala218=) n.59+1003G>C
12	g.53973895C>T	CA479965471	HOTAIR,HOXC11	c.654C>T (p.Ala218=) n.59+1003G>A
12	g.53973895_53973908delinsCAAGGAGCCGGCCA	CA2037241351	HOTAIR,HOXC11	c.654_667delinsCAAGGAGCCGGCCA (p.Ala218=) n.59+990_59+1003delinsTGGCCGGCTCCTTG
12	g.53973896A>C	CA385105975	HOTAIR,HOXC11	c.655A>C (p.Lys219Gln) n.59+1002T>G
12	g.53973896A>G	CA385105979	HOTAIR,HOXC11	c.655A>G (p.Lys219Glu) n.59+1002T>C
12	g.53973896A>T	CA385105977	HOTAIR,HOXC11	c.655A>T (p.Lys219Ter) n.59+1002T>A	gnomAD v4
12	g.53973905_53973917del	CA689961818	HOTAIR,HOXC11	c.664_676del (p.Ala222ProfsTer?) n.59+990_59+1002del	dbSNP gnomAD v4
12	g.53973897A>C	CA385105982	HOTAIR,HOXC11	c.656A>C (p.Lys219Thr) n.59+1001T>G
12	g.53973897A>G	CA385105984	HOTAIR,HOXC11	c.656A>G (p.Lys219Arg) n.59+1001T>C	gnomAD v4
12	g.53973897A>T	CA385105987	HOTAIR,HOXC11	c.656A>T (p.Lys219Met) n.59+1001T>A
12	g.53973898G>A	CA479965472	HOTAIR,HOXC11	c.657G>A (p.Lys219=) n.59+1000C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973898G>C	CA385105989	HOTAIR,HOXC11	c.657G>C (p.Lys219Asn) n.59+1000C>G
12	g.53973898G=	CA2037241356	HOTAIR,HOXC11	c.657G= (p.Lys219=) n.59+1000C=
12	g.53973898G>T	CA385105991	HOTAIR,HOXC11	c.657G>T (p.Lys219Asn) n.59+1000C>A	gnomAD v4
12	g.53973899G>A	CA385105993	HOTAIR,HOXC11	c.658G>A (p.Glu220Lys) n.59+999C>T
12	g.53973899G>C	CA385105994	HOTAIR,HOXC11	c.658G>C (p.Glu220Gln) n.59+999C>G	dbSNP gnomAD v2 gnomAD v4
12	g.53973899G=	CA2037241358	HOTAIR,HOXC11	c.658G= (p.Glu220=) n.59+999C=
12	g.53973899G>T	CA385105995	HOTAIR,HOXC11	c.658G>T (p.Glu220Ter) n.59+999C>A
12	g.53973900A>C	CA385105998	HOTAIR,HOXC11	c.659A>C (p.Glu220Ala) n.59+998T>G
12	g.53973900A>G	CA385105999	HOTAIR,HOXC11	c.659A>G (p.Glu220Gly) n.59+998T>C
12	g.53973900A>T	CA385106001	HOTAIR,HOXC11	c.659A>T (p.Glu220Val) n.59+998T>A
12	g.53973901G>A	CA479965473	HOTAIR,HOXC11	c.660G>A (p.Glu220=) n.59+997C>T
12	g.53973901G>C	CA385106005	HOTAIR,HOXC11	c.660G>C (p.Glu220Asp) n.59+997C>G
12	g.53973901G>T	CA385106003	HOTAIR,HOXC11	c.660G>T (p.Glu220Asp) n.59+997C>A	gnomAD v4
12	g.53973902C>A	CA385106006	HOTAIR,HOXC11	c.661C>A (p.Pro221Thr) n.59+996G>T
12	g.53973902C=	CA2037241361	HOTAIR,HOXC11	c.661C= (p.Pro221=) n.59+996G=
12	g.53973902C>G	CA385106008	HOTAIR,HOXC11	c.661C>G (p.Pro221Ala) n.59+996G>C
12	g.53973902C>T	CA237398129	HOTAIR,HOXC11	c.661C>T (p.Pro221Ser) n.59+996G>A	dbSNP gnomAD v4
12	g.53973903C>A	CA385106011	HOTAIR,HOXC11	c.662C>A (p.Pro221Gln) n.59+995G>T	gnomAD v4
12	g.53973903C=	CA2037241363	HOTAIR,HOXC11	c.662C= (p.Pro221=) n.59+995G=
12	g.53973903C>G	CA385106013	HOTAIR,HOXC11	c.662C>G (p.Pro221Arg) n.59+995G>C	gnomAD v4
12	g.53973903C>T	CA385106015	HOTAIR,HOXC11	c.662C>T (p.Pro221Leu) n.59+995G>A	dbSNP gnomAD v3 gnomAD v4
12	g.53973904G>A	CA479965474	HOTAIR,HOXC11	c.663G>A (p.Pro221=) n.59+994C>T	dbSNP gnomAD v2 gnomAD v4
12	g.53973904G>C	CA479965475	HOTAIR,HOXC11	c.663G>C (p.Pro221=) n.59+994C>G	dbSNP gnomAD v2 gnomAD v4
12	g.53973904G=	CA2037241365	HOTAIR,HOXC11	c.663G= (p.Pro221=) n.59+994C=
12	g.53973904G>T	CA479965476	HOTAIR,HOXC11	c.663G>T (p.Pro221=) n.59+994C>A	gnomAD v4
12	g.53973905G>A	CA385106017	HOTAIR,HOXC11	c.664G>A (p.Ala222Thr) n.59+993C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973905G>C	CA385106018	HOTAIR,HOXC11	c.664G>C (p.Ala222Pro) n.59+993C>G
12	g.53973905G=	CA2037241369	HOTAIR,HOXC11	c.664G= (p.Ala222=) n.59+993C=
12	g.53973905G>T	CA385106020	HOTAIR,HOXC11	c.664G>T (p.Ala222Ser) n.59+993C>A	gnomAD v4
12	g.53973906C>A	CA385106022	HOTAIR,HOXC11	c.665C>A (p.Ala222Asp) n.59+992G>T	gnomAD v4
12	g.53973906C=	CA2037241372	HOTAIR,HOXC11	c.665C= (p.Ala222=) n.59+992G=
12	g.53973906C>G	CA385106024	HOTAIR,HOXC11	c.665C>G (p.Ala222Gly) n.59+992G>C	gnomAD v4
12	g.53973906C>T	CA6604283	HOTAIR,HOXC11	c.665C>T (p.Ala222Val) n.59+992G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973908_53973920dup	CA689961862	HOTAIR,HOXC11	c.667_679dup (p.Pro227GlnfsTer7) c.667_679dup (p.Pro227GlnfsTer?) n.59+980_59+992dup	dbSNP
12	g.53973907C>A	CA479965477	HOTAIR,HOXC11	c.666C>A (p.Ala222=) n.59+991G>T	gnomAD v4
12	g.53973907C>G	CA479965478	HOTAIR,HOXC11	c.666C>G (p.Ala222=) n.59+991G>C
12	g.53973907C>T	CA479965479	HOTAIR,HOXC11	c.666C>T (p.Ala222=) n.59+991G>A
12	g.53973908A=	CA2037241375	HOTAIR,HOXC11	c.667A= (p.Lys223=) n.59+990T=
12	g.53973908A>C	CA385106030	HOTAIR,HOXC11	c.667A>C (p.Lys223Gln) n.59+990T>G	dbSNP gnomAD v3 gnomAD v4
12	g.53973908A>G	CA385106032	HOTAIR,HOXC11	c.667A>G (p.Lys223Glu) n.59+990T>C	gnomAD v4
12	g.53973908A>T	CA385106028	HOTAIR,HOXC11	c.667A>T (p.Lys223Ter) n.59+990T>A	dbSNP gnomAD v3 gnomAD v4
12	g.53973910del	CA2619096870	HOTAIR,HOXC11	c.669del (p.Gly224GlufsTer?) n.59+990del	gnomAD v4
12	g.53973909A>C	CA385106034	HOTAIR,HOXC11	c.668A>C (p.Lys223Thr) n.59+989T>G
12	g.53973909A>G	CA385106036	HOTAIR,HOXC11	c.668A>G (p.Lys223Arg) n.59+989T>C	gnomAD v4
12	g.53973909A>T	CA385106037	HOTAIR,HOXC11	c.668A>T (p.Lys223Ile) n.59+989T>A	gnomAD v4
12	g.53973910A=	CA2037241377	HOTAIR,HOXC11	c.669A= (p.Lys223=) n.59+988T=
12	g.53973910A>C	CA385106039	HOTAIR,HOXC11	c.669A>C (p.Lys223Asn) n.59+988T>G	gnomAD v4
12	g.53973910A>G	CA237398130	HOTAIR,HOXC11	c.669A>G (p.Lys223=) n.59+988T>C	dbSNP gnomAD v3 gnomAD v4
12	g.53973910A>T	CA385106041	HOTAIR,HOXC11	c.669A>T (p.Lys223Asn) n.59+988T>A
12	g.53973911G>A	CA385106048	HOTAIR,HOXC11	c.670G>A (p.Gly224Arg) n.59+987C>T
12	g.53973911G>C	CA385106046	HOTAIR,HOXC11	c.670G>C (p.Gly224Arg) n.59+987C>G	COSMIC
12	g.53973911G=	CA2037241380	HOTAIR,HOXC11	c.670G= (p.Gly224=) n.59+987C=
12	g.53973911G>T	CA385106044	HOTAIR,HOXC11	c.670G>T (p.Gly224Ter) n.59+987C>A	dbSNP gnomAD v4
12	g.53973912G>A	CA385106051	HOTAIR,HOXC11	c.671G>A (p.Gly224Glu) n.59+986C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973912G>C	CA385106053	HOTAIR,HOXC11	c.671G>C (p.Gly224Ala) n.59+986C>G
12	g.53973912G=	CA2037241382	HOTAIR,HOXC11	c.671G= (p.Gly224=) n.59+986C=
12	g.53973912G>T	CA385106055	HOTAIR,HOXC11	c.671G>T (p.Gly224Val) n.59+986C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973913A>C	CA479965480	HOTAIR,HOXC11	c.672A>C (p.Gly224=) n.59+985T>G
12	g.53973913A>G	CA479965481	HOTAIR,HOXC11	c.672A>G (p.Gly224=) n.59+985T>C	gnomAD v4
12	g.53973913A>T	CA479965482	HOTAIR,HOXC11	c.672A>T (p.Gly224=) n.59+985T>A	gnomAD v4
12	g.53973914G>A	CA385106057	HOTAIR,HOXC11	c.673G>A (p.Ala225Thr) n.59+984C>T
12	g.53973914G>C	CA385106058	HOTAIR,HOXC11	c.673G>C (p.Ala225Pro) n.59+984C>G	dbSNP
12	g.53973914G>T	CA385106060	HOTAIR,HOXC11	c.673G>T (p.Ala225Ser) n.59+984C>A	gnomAD v4
12	g.53973915C>A	CA385106062	HOTAIR,HOXC11	c.674C>A (p.Ala225Asp) n.59+983G>T	gnomAD v4
12	g.53973915C=	CA2037241384	HOTAIR,HOXC11	c.674C= (p.Ala225=) n.59+983G=
12	g.53973915C>G	CA385106065	HOTAIR,HOXC11	c.674C>G (p.Ala225Gly) n.59+983G>C
12	g.53973915C>T	CA385106063	HOTAIR,HOXC11	c.674C>T (p.Ala225Val) n.59+983G>A	dbSNP gnomAD v2 gnomAD v4
12	g.53973916C>A	CA479965483	HOTAIR,HOXC11	c.675C>A (p.Ala225=) n.59+982G>T	dbSNP gnomAD v3 gnomAD v4
12	g.53973916C=	CA2037241387	HOTAIR,HOXC11	c.675C= (p.Ala225=) n.59+982G=
12	g.53973916C>G	CA479965484	HOTAIR,HOXC11	c.675C>G (p.Ala225=) n.59+982G>C	dbSNP gnomAD v2 gnomAD v4
12	g.53973916C>T	CA479965485	HOTAIR,HOXC11	c.675C>T (p.Ala225=) n.59+982G>A	dbSNP gnomAD v2 gnomAD v4
12	g.53973917G>A	CA385106066	HOTAIR,HOXC11	c.676G>A (p.Ala226Thr) n.59+981C>T	gnomAD v4
12	g.53973917G>C	CA385106068	HOTAIR,HOXC11	c.676G>C (p.Ala226Pro) n.59+981C>G
12	g.53973917G>T	CA385106070	HOTAIR,HOXC11	c.676G>T (p.Ala226Ser) n.59+981C>A	gnomAD v4
12	g.53973918C>A	CA385106072	HOTAIR,HOXC11	c.677C>A (p.Ala226Asp) n.59+980G>T	gnomAD v4
12	g.53973918C=	CA2037241389	HOTAIR,HOXC11	c.677C= (p.Ala226=) n.59+980G=
12	g.53973918C>G	CA237398132	HOTAIR,HOXC11	c.677C>G (p.Ala226Gly) n.59+980G>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973918C>T	CA385106075	HOTAIR,HOXC11	c.677C>T (p.Ala226Val) n.59+980G>A
12	g.53973922del	CA2575177061	HOTAIR,HOXC11	c.681del (p.Ser228ValfsTer?) c.681del (p.Asn228ThrfsTer?) n.59+980del	gnomAD v4
12	g.53973919C>A	CA479965486	HOTAIR,HOXC11	c.678C>A (p.Ala226=) n.59+979G>T	gnomAD v4
12	g.53973919C=	CA2037241393	HOTAIR,HOXC11	c.678C= (p.Ala226=) n.59+979G=
12	g.53973919C>G	CA237398134	HOTAIR,HOXC11	c.678C>G (p.Ala226=) n.59+979G>C	dbSNP gnomAD v3 gnomAD v4
12	g.53973919C>T	CA479965487	HOTAIR,HOXC11	c.678C>T (p.Ala226=) n.59+979G>A	gnomAD v4
12	g.53973920C>A	CA385106078	HOTAIR,HOXC11	c.679C>A (p.Pro227Thr) n.59+978G>T	gnomAD v4
12	g.53973920C>G	CA385106080	HOTAIR,HOXC11	c.679C>G (p.Pro227Ala) n.59+978G>C
12	g.53973920C>T	CA385106081	HOTAIR,HOXC11	c.679C>T (p.Pro227Ser) n.59+978G>A
12	g.53973921C>A	CA385106082	HOTAIR,HOXC11	c.680C>A (p.Pro227His) n.59+977G>T	gnomAD v4
12	g.53973921C>G	CA385106084	HOTAIR,HOXC11	c.680C>G (p.Pro227Arg) n.59+977G>C
12	g.53973921C>T	CA385106086	HOTAIR,HOXC11	c.680C>T (p.Pro227Leu) n.59+977G>A	dbSNP
12	g.53973922C>A	CA479965488	HOTAIR,HOXC11	c.681C>A (p.Pro227=) n.59+976G>T	gnomAD v4
12	g.53973922C=	CA2037241395	HOTAIR,HOXC11	c.681C= (p.Pro227=) n.59+976G=
12	g.53973922C>G	CA6604284	HOTAIR,HOXC11	c.681C>G (p.Pro227=) n.59+976G>C	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.53973922C>T	CA479965489	HOTAIR,HOXC11	c.681C>T (p.Pro227=) n.59+976G>A
12	g.53973923A=	CA2037241397	HOTAIR,HOXC11	c.682A= (p.Ser228=) c.682A= (p.Asn228=) n.59+975T=
12	g.53973923A>C	CA385106093	HOTAIR,HOXC11	c.682A>C (p.Ser228Arg) c.682A>C (p.Asn228His) n.59+975T>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973923A>G	CA385106091	HOTAIR,HOXC11	c.682A>G (p.Ser228Gly) c.682A>G (p.Asn228Asp) n.59+975T>C	gnomAD v4
12	g.53973923A>T	CA385106089	HOTAIR,HOXC11	c.682A>T (p.Ser228Cys) c.682A>T (p.Asn228Tyr) n.59+975T>A	dbSNP
12	g.53973924G>A	CA385106095	HOTAIR,HOXC11	c.683G>A (p.Ser228Asn) c.682+1G>A (n.682+1G>A) n.59+974C>T
12	g.53973924G>C	CA385106099	HOTAIR,HOXC11	c.683G>C (p.Ser228Thr) c.682+1G>C (n.682+1G>C) n.59+974C>G
12	g.53973924G>T	CA385106097	HOTAIR,HOXC11	c.683G>T (p.Ser228Ile) c.682+1G>T (n.682+1G>T) n.59+974C>A	gnomAD v4
12	g.53973925T>A	CA385106101	HOTAIR,HOXC11	c.684T>A (p.Ser228Arg) c.682+2T>A (n.682+2T>A) n.59+973A>T
12	g.53973925T>C	CA385106104	HOTAIR,HOXC11	c.684T>C (p.Ser228=) c.682+2T>C (n.682+2T>C) n.59+973A>G
12	g.53973925T>G	CA385106102	HOTAIR,HOXC11	c.684T>G (p.Ser228Arg) c.682+2T>G (n.682+2T>G) n.59+973A>C	gnomAD v3 gnomAD v4
12	g.53973926A=	CA2037241401	HOTAIR,HOXC11	c.685A= (p.Arg229=) c.682+3A= (n.682+3A=) n.59+972T=
12	g.53973926A>C	CA2796041908	HOTAIR,HOXC11	c.685A>C (p.Arg229=) c.682+3A>C (n.682+3A>C) n.59+972T>G
12	g.53973926A>G	CA385106106	HOTAIR,HOXC11	c.685A>G (p.Arg229Gly) c.682+3A>G (n.682+3A>G) n.59+972T>C	dbSNP gnomAD v4
12	g.53973926A>T	CA385106108	HOTAIR,HOXC11	c.685A>T (p.Arg229Ter) c.682+3A>T (n.682+3A>T) n.59+972T>A	gnomAD v4
12	g.53973927G>A	CA385106113	HOTAIR,HOXC11	c.686G>A (p.Arg229Lys) c.682+4G>A (n.682+4G>A) n.59+971C>T
12	g.53973927G>C	CA385106115	HOTAIR,HOXC11	c.686G>C (p.Arg229Thr) c.682+4G>C (n.682+4G>C) n.59+971C>G
12	g.53973927G>T	CA385106117	HOTAIR,HOXC11	c.686G>T (p.Arg229Ile) c.682+4G>T (n.682+4G>T) n.59+971C>A	gnomAD v4
12	g.53973928G>A	CA385106119	HOTAIR,HOXC11	c.686+1G>A (n.686+1G>A) c.682+5G>A (n.682+5G>A) n.59+970C>T
12	g.53973928G>C	CA385106121	HOTAIR,HOXC11	c.686+1G>C (n.686+1G>C) c.682+5G>C (n.682+5G>C) n.59+970C>G
12	g.53973928G>T	CA385106123	HOTAIR,HOXC11	c.686+1G>T (n.686+1G>T) c.682+5G>T (n.682+5G>T) n.59+970C>A	gnomAD v4
12	g.53973929T>A	CA385106125	HOTAIR,HOXC11	c.686+2T>A (n.686+2T>A) c.682+6T>A (n.682+6T>A) n.59+969A>T
12	g.53973929T>C	CA385106127	HOTAIR,HOXC11	c.686+2T>C (n.686+2T>C) c.682+6T>C (n.682+6T>C) n.59+969A>G	gnomAD v4
12	g.53973929T>G	CA385106128	HOTAIR,HOXC11	c.686+2T>G (n.686+2T>G) c.682+6T>G (n.682+6T>G) n.59+969A>C	gnomAD v4
12	g.53973930_53973948delinsAGCAGCGGCCGGGGAACGG	CA2037241403	HOTAIR,HOXC11	c.686+3_686+21delinsAGCAGCGGCCGGGGAACGG (n.686+3_686+21delinsAGCAGCGGCCGGGGAACGG) c.682+7_682+25delinsAGCAGCGGCCGGGGAACGG (n.682+7_682+25delinsAGCAGCGGCCGGGGAACGG) n.59+950_59+968delinsCCGTTCCCCGGCCGCTGCT
12	g.53973931G>A	CA2619096971	HOTAIR,HOXC11	c.686+4G>A (n.686+4G>A) c.682+8G>A (n.682+8G>A) n.59+967C>T	gnomAD v4
12	g.53973931G>T	CA2619096977	HOTAIR,HOXC11	c.686+4G>T (n.686+4G>T) c.682+8G>T (n.682+8G>T) n.59+967C>A	gnomAD v4
12	g.53973933_53973950del	CA605245028	HOTAIR,HOXC11	c.686+6_686+23del (n.686+6_686+23del) c.682+10_682+27del (n.682+10_682+27del) n.59+950_59+967del	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973932C>A	CA2619096978	HOTAIR,HOXC11	c.686+5C>A (n.686+5C>A) c.682+9C>A (n.682+9C>A) n.59+966G>T	gnomAD v4
12	g.53973932C>T	CA2619096979	HOTAIR,HOXC11	c.686+5C>T (n.686+5C>T) c.682+9C>T (n.682+9C>T) n.59+966G>A	gnomAD v4
12	g.53973933A=	CA2037241408	HOTAIR,HOXC11	c.686+6A= (n.686+6A=) c.682+10A= (n.682+10A=) n.59+965T=
12	g.53973933A>G	CA605245029	HOTAIR,HOXC11	c.686+6A>G (n.686+6A>G) c.682+10A>G (n.682+10A>G) n.59+965T>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973934G>A	CA2619096983	HOTAIR,HOXC11	c.686+7G>A (n.686+7G>A) c.682+11G>A (n.682+11G>A) n.59+964C>T	gnomAD v4
12	g.53973934G>T	CA2619096984	HOTAIR,HOXC11	c.686+7G>T (n.686+7G>T) c.682+11G>T (n.682+11G>T) n.59+964C>A	gnomAD v4
12	g.53973935C>A	CA2575177062	HOTAIR,HOXC11	c.686+8C>A (n.686+8C>A) c.682+12C>A (n.682+12C>A) n.59+963G>T	gnomAD v4
12	g.53973935C=	CA2037241410	HOTAIR,HOXC11	c.686+8C= (n.686+8C=) c.682+12C= (n.682+12C=) n.59+963G=
12	g.53973935C>T	CA605245030	HOTAIR,HOXC11	c.686+8C>T (n.686+8C>T) c.682+12C>T (n.682+12C>T) n.59+963G>A	dbSNP gnomAD v2 gnomAD v4
12	g.53973936G>A	CA2619096990	HOTAIR,HOXC11	c.686+9G>A (n.686+9G>A) c.682+13G>A (n.682+13G>A) n.59+962C>T	gnomAD v4
12	g.53973936G>C	CA605245031	HOTAIR,HOXC11	c.686+9G>C (n.686+9G>C) c.682+13G>C (n.682+13G>C) n.59+962C>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.53973936G=	CA2037241413	HOTAIR,HOXC11	c.686+9G= (n.686+9G=) c.682+13G= (n.682+13G=) n.59+962C=
12	g.53973936G>T	CA2619096991	HOTAIR,HOXC11	c.686+9G>T (n.686+9G>T) c.682+13G>T (n.682+13G>T) n.59+962C>A	gnomAD v4

Number of alleles fetched