Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.11100222_11107515del	CA658824387	LDLR	c.326-1_1198+1del c.68-1_940+1del c.322-1_1194+1del c.68-1_436+1del c.68-1_817+1del c.68-1_559+1del n.218-1_1090+1del n.185-1_1057+1del	ClinVar
19	g.11101932_11106610del	CA1139666288	LDLR	c.449-732_998del c.191-732_740del c.445-732_994del c.191-732_314-782del c.190+1587_617del c.191-732_359del n.341-732_890del n.308-732_857del	ClinVar
19	g.11102141_11108134del	CA2573050561	LDLR	c.449-523_1198+620del c.191-523_940+620del c.445-523_1194+620del c.191-523_436+620del c.190+1796_817+620del c.191-523_559+620del n.341-523_1090+620del n.308-523_1057+620del
19	g.11102152_11108145del	CA10584784	LDLR	c.449-512_1198+631del c.191-512_940+631del c.445-512_1194+631del c.191-512_436+631del c.190+1807_817+631del c.191-512_559+631del n.341-512_1090+631del n.308-512_1057+631del	ClinVar
19	g.11102477_11108484del	CA2573050562	LDLR	c.449-187_1198+970del c.191-187_940+970del c.445-187_1194+970del c.191-187_436+970del c.190+2132_817+970del c.191-187_559+970del n.341-187_1090+970del n.308-187_1057+970del
19	g.11102664_11105600del	CA2580061394	LDLR	c.449_952del c.191_694del c.445_948del c.191_314-1792del c.190+2319_571del c.191_314-965del n.341_844del n.308_811del
19	g.11102664_11106687del	CA10584788	LDLR	c.449_1075del c.191_817del c.445_1071del c.191_314-705del c.190+2319_694del c.191_436del n.341_967del n.308_934del
19	g.11102663_11107515del	CA658824388	LDLR	c.449-1_1198+1del c.191-1_940+1del c.445-1_1194+1del c.191-1_436+1del c.190+2318_817+1del c.191-1_559+1del n.341-1_1090+1del n.308-1_1057+1del	ClinVar
19	g.11102785_11107393del	CA916084172	LDLR	c.570_1077del c.312_819del c.566_1073del c.312_315del c.191-2435_696del c.312_438del n.462_969del n.429_936del
19	g.11104109_11109216del	CA2573050567	LDLR	c.572-1111_1199-1436del c.314-1111_941-1436del c.314-1111_940+1702del c.568-1111_1195-1436del c.313+1323_437-1436del c.191-1111_818-1436del c.313+1323_560-1436del n.464-1111_1091-1436del n.431-1111_1058-1436del
19	g.11104774_11112892dup	CA2580612594	LDLR	c.572-446_1445-386dup c.314-446_1187-386dup c.314-446_1067-386dup c.568-446_1441-386dup c.313+1988_683-386dup c.191-446_1064-386dup c.314-1791_806-386dup n.464-446_1337-386dup n.431-446_1304-386dup
19	g.11105158_11111699dup	CA2580612596	LDLR	c.572-62_1444+60dup c.314-62_1186+60dup c.314-62_1066+60dup c.568-62_1440+60dup c.314-2234_682+60dup c.191-62_1063+60dup c.314-1407_805+60dup n.464-62_1336+60dup n.431-62_1303+60dup
19	g.11105170_11111689dup	CA2580612597	LDLR	c.572-50_1444+50dup c.314-50_1186+50dup c.314-50_1066+50dup c.568-50_1440+50dup c.314-2222_682+50dup c.191-50_1063+50dup c.314-1395_805+50dup n.464-50_1336+50dup n.431-50_1303+50dup
19	g.11105300_11105323del	CA2573050569	LDLR	c.652_675del (p.Arg218_Asp225del) c.394_417del (p.Arg132_Asp139del) c.648_671del c.314-2092_314-2069del (n.314-2092_314-2069del) c.271_294del (p.Arg91_Asp98del) c.314-1265_314-1242del (n.314-1265_314-1242del) n.544_567del n.511_534del
19	g.11105303dup	CA10584901	LDLR	c.655dup (p.Asp219GlyfsTer?) c.397dup (p.Asp133GlyfsTer?) c.651dup c.314-2089dup (n.314-2089dup) c.274dup (p.Asp92GlyfsTer?) c.314-1262dup (n.314-1262dup) n.547dup n.514dup	ClinVar dbSNP
19	g.11105302G>A	CA505742201	LDLR	c.654G>A (p.Arg218=) c.396G>A (p.Arg132=) c.650G>A c.314-2090G>A (n.314-2090G>A) c.273G>A (p.Arg91=) c.314-1263G>A (n.314-1263G>A) n.546G>A n.513G>A	ClinVar dbSNP gnomAD v4
19	g.11105302G>C	CA505742202	LDLR	c.654G>C (p.Arg218=) c.396G>C (p.Arg132=) c.650G>C c.314-2090G>C (n.314-2090G>C) c.273G>C (p.Arg91=) c.314-1263G>C (n.314-1263G>C) n.546G>C n.513G>C
19	g.11105302G=	CA2322767348	LDLR	c.654G= (p.Arg218=) c.396G= (p.Arg132=) c.650G= c.314-2090G= (n.314-2090G=) c.273G= (p.Arg91=) c.314-1263G= (n.314-1263G=) n.546G= n.513G=
19	g.11105302G>T	CA505742203	LDLR	c.654G>T (p.Arg218=) c.396G>T (p.Arg132=) c.650G>T c.314-2090G>T (n.314-2090G>T) c.273G>T (p.Arg91=) c.314-1263G>T (n.314-1263G>T) n.546G>T n.513G>T	COSMIC
19	g.11105303G>A	CA10584900	LDLR	c.655G>A (p.Asp219Asn) c.397G>A (p.Asp133Asn) c.651G>A c.314-2089G>A (n.314-2089G>A) c.274G>A (p.Asp92Asn) c.314-1262G>A (n.314-1262G>A) n.547G>A n.514G>A	ClinVar dbSNP gnomAD v4
19	g.11105303G>C	CA404076349	LDLR	c.655G>C (p.Asp219His) c.397G>C (p.Asp133His) c.651G>C c.314-2089G>C (n.314-2089G>C) c.274G>C (p.Asp92His) c.314-1262G>C (n.314-1262G>C) n.547G>C n.514G>C
19	g.11105303G=	CA2322767349	LDLR	c.655G= (p.Asp219=) c.397G= (p.Asp133=) c.651G= c.314-2089G= (n.314-2089G=) c.274G= (p.Asp92=) c.314-1262G= (n.314-1262G=) n.547G= n.514G=
19	g.11105303G>T	CA404076350	LDLR	c.655G>T (p.Asp219Tyr) c.397G>T (p.Asp133Tyr) c.651G>T c.314-2089G>T (n.314-2089G>T) c.274G>T (p.Asp92Tyr) c.314-1262G>T (n.314-1262G>T) n.547G>T n.514G>T	ClinVar
19	g.11105304A=	CA2322767350	LDLR	c.656A= (p.Asp219=) c.398A= (p.Asp133=) c.652A= c.314-2088A= (n.314-2088A=) c.275A= (p.Asp92=) c.314-1261A= (n.314-1261A=) n.548A= n.515A=
19	g.11105304A>C	CA404076351	LDLR	c.656A>C (p.Asp219Ala) c.398A>C (p.Asp133Ala) c.652A>C c.314-2088A>C (n.314-2088A>C) c.275A>C (p.Asp92Ala) c.314-1261A>C (n.314-1261A>C) n.548A>C n.515A>C	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.11105304A>G	CA404076353	LDLR	c.656A>G (p.Asp219Gly) c.398A>G (p.Asp133Gly) c.652A>G c.314-2088A>G (n.314-2088A>G) c.275A>G (p.Asp92Gly) c.314-1261A>G (n.314-1261A>G) n.548A>G n.515A>G
19	g.11105304A>T	CA404076352	LDLR	c.656A>T (p.Asp219Val) c.398A>T (p.Asp133Val) c.652A>T c.314-2088A>T (n.314-2088A>T) c.275A>T (p.Asp92Val) c.314-1261A>T (n.314-1261A>T) n.548A>T n.515A>T
19	g.11105305C>A	CA404076354	LDLR	c.657C>A (p.Asp219Glu) c.399C>A (p.Asp133Glu) c.653C>A c.314-2087C>A (n.314-2087C>A) c.276C>A (p.Asp92Glu) c.314-1260C>A (n.314-1260C>A) n.549C>A n.516C>A
19	g.11105305C=	CA2322767351	LDLR	c.657C= (p.Asp219=) c.399C= (p.Asp133=) c.653C= c.314-2087C= (n.314-2087C=) c.276C= (p.Asp92=) c.314-1260C= (n.314-1260C=) n.549C= n.516C=
19	g.11105305C>G	CA404076355	LDLR	c.657C>G (p.Asp219Glu) c.399C>G (p.Asp133Glu) c.653C>G c.314-2087C>G (n.314-2087C>G) c.276C>G (p.Asp92Glu) c.314-1260C>G (n.314-1260C>G) n.549C>G n.516C>G
19	g.11105305C>T	CA505742204	LDLR	c.657C>T (p.Asp219=) c.399C>T (p.Asp133=) c.653C>T c.314-2087C>T (n.314-2087C>T) c.276C>T (p.Asp92=) c.314-1260C>T (n.314-1260C>T) n.549C>T n.516C>T	ClinVar dbSNP gnomAD v4
19	g.11105306T>A	CA404076356	LDLR	c.658T>A (p.Cys220Ser) c.400T>A (p.Cys134Ser) c.654T>A c.314-2086T>A (n.314-2086T>A) c.277T>A (p.Cys93Ser) c.314-1259T>A (n.314-1259T>A) n.550T>A n.517T>A	ClinVar
19	g.11105306T>C	CA10576281	LDLR	c.658T>C (p.Cys220Arg) c.400T>C (p.Cys134Arg) c.654T>C c.314-2086T>C (n.314-2086T>C) c.277T>C (p.Cys93Arg) c.314-1259T>C (n.314-1259T>C) n.550T>C n.517T>C	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.11105306T>G	CA404076357	LDLR	c.658T>G (p.Cys220Gly) c.400T>G (p.Cys134Gly) c.654T>G c.314-2086T>G (n.314-2086T>G) c.277T>G (p.Cys93Gly) c.314-1259T>G (n.314-1259T>G) n.550T>G n.517T>G	ClinVar dbSNP
19	g.11105306T=	CA2322767352	LDLR	c.658T= (p.Cys220=) c.400T= (p.Cys134=) c.654T= c.314-2086T= (n.314-2086T=) c.277T= (p.Cys93=) c.314-1259T= (n.314-1259T=) n.550T= n.517T=
19	g.11105307G>A	CA10584902	LDLR	c.659G>A (p.Cys220Tyr) c.401G>A (p.Cys134Tyr) c.655G>A c.314-2085G>A (n.314-2085G>A) c.278G>A (p.Cys93Tyr) c.314-1258G>A (n.314-1258G>A) c.1G>A n.551G>A n.518G>A	ClinVar dbSNP
19	g.11105307G>C	CA404076358	LDLR	c.659G>C (p.Cys220Ser) c.401G>C (p.Cys134Ser) c.655G>C c.314-2085G>C (n.314-2085G>C) c.278G>C (p.Cys93Ser) c.314-1258G>C (n.314-1258G>C) c.1G>C n.551G>C n.518G>C	ClinVar dbSNP
19	g.11105307G=	CA2322767353	LDLR	c.659G= (p.Cys220=) c.401G= (p.Cys134=) c.655G= c.314-2085G= (n.314-2085G=) c.278G= (p.Cys93=) c.314-1258G= (n.314-1258G=) c.1G= n.551G= n.518G=
19	g.11105307G>T	CA10584903	LDLR	c.659G>T (p.Cys220Phe) c.401G>T (p.Cys134Phe) c.655G>T c.314-2085G>T (n.314-2085G>T) c.278G>T (p.Cys93Phe) c.314-1258G>T (n.314-1258G>T) c.1G>T n.551G>T n.518G>T	ClinVar dbSNP
19	g.11105308C>A	CA404076359	LDLR	c.660C>A (p.Cys220Ter) c.402C>A (p.Cys134Ter) c.656C>A c.314-2084C>A (n.314-2084C>A) c.279C>A (p.Cys93Ter) c.314-1257C>A (n.314-1257C>A) c.2C>A n.552C>A n.519C>A
19	g.11105308C=	CA2322767354	LDLR	c.660C= (p.Cys220=) c.402C= (p.Cys134=) c.656C= c.314-2084C= (n.314-2084C=) c.279C= (p.Cys93=) c.314-1257C= (n.314-1257C=) c.2C= n.552C= n.519C=
19	g.11105308C>G	CA10584904	LDLR	c.660C>G (p.Cys220Trp) c.402C>G (p.Cys134Trp) c.656C>G c.314-2084C>G (n.314-2084C>G) c.279C>G (p.Cys93Trp) c.314-1257C>G (n.314-1257C>G) c.2C>G n.552C>G n.519C>G	ClinVar dbSNP
19	g.11105308C>T	CA505742205	LDLR	c.660C>T (p.Cys220=) c.402C>T (p.Cys134=) c.656C>T c.314-2084C>T (n.314-2084C>T) c.279C>T (p.Cys93=) c.314-1257C>T (n.314-1257C>T) c.2C>T n.552C>T n.519C>T	ClinVar dbSNP gnomAD v4
19	g.11105309T>A	CA404076361	LDLR	c.661T>A (p.Leu221Met) c.403T>A (p.Leu135Met) c.657T>A c.314-2083T>A (n.314-2083T>A) c.280T>A (p.Leu94Met) c.314-1256T>A (n.314-1256T>A) c.3T>A n.553T>A n.520T>A
19	g.11105309T>C	CA505742206	LDLR	c.661T>C (p.Leu221=) c.403T>C (p.Leu135=) c.657T>C c.314-2083T>C (n.314-2083T>C) c.280T>C (p.Leu94=) c.314-1256T>C (n.314-1256T>C) c.3T>C n.553T>C n.520T>C	ClinVar
19	g.11105309T>G	CA404076360	LDLR	c.661T>G (p.Leu221Val) c.403T>G (p.Leu135Val) c.657T>G c.314-2083T>G (n.314-2083T>G) c.280T>G (p.Leu94Val) c.314-1256T>G (n.314-1256T>G) c.3T>G n.553T>G n.520T>G	gnomAD v4
19	g.11105310dup	CA632115394	LDLR	c.662dup (p.Leu221PhefsTer?) c.404dup (p.Leu135PhefsTer?) c.658dup c.314-2082dup (n.314-2082dup) c.281dup (p.Leu94PhefsTer?) c.314-1255dup (n.314-1255dup) c.4dup n.554dup n.521dup	dbSNP gnomAD v2 gnomAD v4
19	g.11105310T>A	CA404076362	LDLR	c.662T>A (p.Leu221Ter) c.404T>A (p.Leu135Ter) c.658T>A c.314-2082T>A (n.314-2082T>A) c.281T>A (p.Leu94Ter) c.314-1255T>A (n.314-1255T>A) c.4T>A n.554T>A n.521T>A
19	g.11105310T>C	CA404076363	LDLR	c.662T>C (p.Leu221Ser) c.404T>C (p.Leu135Ser) c.658T>C c.314-2082T>C (n.314-2082T>C) c.281T>C (p.Leu94Ser) c.314-1255T>C (n.314-1255T>C) c.4T>C n.554T>C n.521T>C
19	g.11105310T>G	CA404076364	LDLR	c.662T>G (p.Leu221Trp) c.404T>G (p.Leu135Trp) c.658T>G c.314-2082T>G (n.314-2082T>G) c.281T>G (p.Leu94Trp) c.314-1255T>G (n.314-1255T>G) c.4T>G n.554T>G n.521T>G	dbSNP
19	g.11105310T=	CA2322767355	LDLR	c.662T= (p.Leu221=) c.404T= (p.Leu135=) c.658T= c.314-2082T= (n.314-2082T=) c.281T= (p.Leu94=) c.314-1255T= (n.314-1255T=) c.4T= n.554T= n.521T=
19	g.11105311G>A	CA505742207	LDLR	c.663G>A (p.Leu221=) c.405G>A (p.Leu135=) c.659G>A c.314-2081G>A (n.314-2081G>A) c.282G>A (p.Leu94=) c.314-1254G>A (n.314-1254G>A) c.5G>A n.555G>A n.522G>A
19	g.11105311G>C	CA404076365	LDLR	c.663G>C (p.Leu221Phe) c.405G>C (p.Leu135Phe) c.659G>C c.314-2081G>C (n.314-2081G>C) c.282G>C (p.Leu94Phe) c.314-1254G>C (n.314-1254G>C) c.5G>C n.555G>C n.522G>C	dbSNP
19	g.11105311G=	CA2322767356	LDLR	c.663G= (p.Leu221=) c.405G= (p.Leu135=) c.659G= c.314-2081G= (n.314-2081G=) c.282G= (p.Leu94=) c.314-1254G= (n.314-1254G=) c.5G= n.555G= n.522G=
19	g.11105311G>T	CA404076366	LDLR	c.663G>T (p.Leu221Phe) c.405G>T (p.Leu135Phe) c.659G>T c.314-2081G>T (n.314-2081G>T) c.282G>T (p.Leu94Phe) c.314-1254G>T (n.314-1254G>T) c.5G>T n.555G>T n.522G>T
19	g.11105313_11105316dup	CA2695238677	LDLR	c.665_668dup (p.Ser224ArgfsTer?) c.407_410dup (p.Ser138ArgfsTer?) c.661_664dup c.314-2079_314-2076dup (n.314-2079_314-2076dup) c.284_287dup (p.Ser97ArgfsTer?) c.314-1252_314-1249dup (n.314-1252_314-1249dup) c.7_10dup n.557_560dup n.524_527dup
19	g.11105312G>A	CA404076369	LDLR	c.664G>A (p.Asp222Asn) c.406G>A (p.Asp136Asn) c.660G>A c.314-2080G>A (n.314-2080G>A) c.283G>A (p.Asp95Asn) c.314-1253G>A (n.314-1253G>A) c.6G>A n.556G>A n.523G>A	ClinVar dbSNP gnomAD v4
19	g.11105312G>C	CA404076368	LDLR	c.664G>C (p.Asp222His) c.406G>C (p.Asp136His) c.660G>C c.314-2080G>C (n.314-2080G>C) c.283G>C (p.Asp95His) c.314-1253G>C (n.314-1253G>C) c.6G>C n.556G>C n.523G>C
19	g.11105312G=	CA2322767357	LDLR	c.664G= (p.Asp222=) c.406G= (p.Asp136=) c.660G= c.314-2080G= (n.314-2080G=) c.283G= (p.Asp95=) c.314-1253G= (n.314-1253G=) c.6G= n.556G= n.523G=
19	g.11105312G>T	CA404076367	LDLR	c.664G>T (p.Asp222Tyr) c.406G>T (p.Asp136Tyr) c.660G>T c.314-2080G>T (n.314-2080G>T) c.283G>T (p.Asp95Tyr) c.314-1253G>T (n.314-1253G>T) c.6G>T n.556G>T n.523G>T
19	g.11105313A=	CA2322767358	LDLR	c.665A= (p.Asp222=) c.407A= (p.Asp136=) c.661A= c.314-2079A= (n.314-2079A=) c.284A= (p.Asp95=) c.314-1252A= (n.314-1252A=) c.7A= n.557A= n.524A=
19	g.11105313A>C	CA404076370	LDLR	c.665A>C (p.Asp222Ala) c.407A>C (p.Asp136Ala) c.661A>C c.314-2079A>C (n.314-2079A>C) c.284A>C (p.Asp95Ala) c.314-1252A>C (n.314-1252A>C) c.7A>C n.557A>C n.524A>C
19	g.11105313A>G	CA404076371	LDLR	c.665A>G (p.Asp222Gly) c.407A>G (p.Asp136Gly) c.661A>G c.314-2079A>G (n.314-2079A>G) c.284A>G (p.Asp95Gly) c.314-1252A>G (n.314-1252A>G) c.7A>G n.557A>G n.524A>G
19	g.11105313A>T	CA10584905	LDLR	c.665A>T (p.Asp222Val) c.407A>T (p.Asp136Val) c.661A>T c.314-2079A>T (n.314-2079A>T) c.284A>T (p.Asp95Val) c.314-1252A>T (n.314-1252A>T) c.7A>T n.557A>T n.524A>T	ClinVar dbSNP
19	g.11105314del	CA2695223196	LDLR	c.666del (p.Asp222GlufsTer?) c.408del (p.Asp136GlufsTer?) c.662del c.314-2078del (n.314-2078del) c.285del (p.Asp95GlufsTer?) c.314-1251del (n.314-1251del) c.8del n.558del n.525del
19	g.11105314C>A	CA404076372	LDLR	c.666C>A (p.Asp222Glu) c.408C>A (p.Asp136Glu) c.662C>A c.314-2078C>A (n.314-2078C>A) c.285C>A (p.Asp95Glu) c.314-1251C>A (n.314-1251C>A) c.8C>A n.558C>A n.525C>A
19	g.11105314C=	CA2322767359	LDLR	c.666C= (p.Asp222=) c.408C= (p.Asp136=) c.662C= c.314-2078C= (n.314-2078C=) c.285C= (p.Asp95=) c.314-1251C= (n.314-1251C=) c.8C= n.558C= n.525C=
19	g.11105314C>G	CA404076373	LDLR	c.666C>G (p.Asp222Glu) c.408C>G (p.Asp136Glu) c.662C>G c.314-2078C>G (n.314-2078C>G) c.285C>G (p.Asp95Glu) c.314-1251C>G (n.314-1251C>G) c.8C>G n.558C>G n.525C>G	gnomAD v4
19	g.11105314C>T	CA043421	LDLR	c.666C>T (p.Asp222=) c.408C>T (p.Asp136=) c.662C>T c.314-2078C>T (n.314-2078C>T) c.285C>T (p.Asp95=) c.314-1251C>T (n.314-1251C>T) c.8C>T n.558C>T n.525C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.11105315G>A	CA023703	LDLR	c.667G>A (p.Gly223Ser) c.409G>A (p.Gly137Ser) c.663G>A c.314-2077G>A (n.314-2077G>A) c.286G>A (p.Gly96Ser) c.314-1250G>A (n.314-1250G>A) c.9G>A n.559G>A n.526G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11105315G>C	CA404076374	LDLR	c.667G>C (p.Gly223Arg) c.409G>C (p.Gly137Arg) c.663G>C c.314-2077G>C (n.314-2077G>C) c.286G>C (p.Gly96Arg) c.314-1250G>C (n.314-1250G>C) c.9G>C n.559G>C n.526G>C
19	g.11105315G=	CA2322767360	LDLR	c.667G= (p.Gly223=) c.409G= (p.Gly137=) c.663G= c.314-2077G= (n.314-2077G=) c.286G= (p.Gly96=) c.314-1250G= (n.314-1250G=) c.9G= n.559G= n.526G=
19	g.11105315G>T	CA10584906	LDLR	c.667G>T (p.Gly223Cys) c.409G>T (p.Gly137Cys) c.663G>T c.314-2077G>T (n.314-2077G>T) c.286G>T (p.Gly96Cys) c.314-1250G>T (n.314-1250G>T) c.9G>T n.559G>T n.526G>T	ClinVar dbSNP gnomAD v4
19	g.11105316G>A	CA404076375	LDLR	c.668G>A (p.Gly223Asp) c.410G>A (p.Gly137Asp) c.664G>A c.314-2076G>A (n.314-2076G>A) c.287G>A (p.Gly96Asp) c.314-1249G>A (n.314-1249G>A) c.10G>A n.560G>A n.527G>A	gnomAD v4
19	g.11105316G>C	CA404076376	LDLR	c.668G>C (p.Gly223Ala) c.410G>C (p.Gly137Ala) c.664G>C c.314-2076G>C (n.314-2076G>C) c.287G>C (p.Gly96Ala) c.314-1249G>C (n.314-1249G>C) c.10G>C n.560G>C n.527G>C
19	g.11105316G=	CA2322767361	LDLR	c.668G= (p.Gly223=) c.410G= (p.Gly137=) c.664G= c.314-2076G= (n.314-2076G=) c.287G= (p.Gly96=) c.314-1249G= (n.314-1249G=) c.10G= n.560G= n.527G=
19	g.11105316G>T	CA023705	LDLR	c.668G>T (p.Gly223Val) c.410G>T (p.Gly137Val) c.664G>T c.314-2076G>T (n.314-2076G>T) c.287G>T (p.Gly96Val) c.314-1249G>T (n.314-1249G>T) c.10G>T n.560G>T n.527G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11105317C>A	CA505742209	LDLR	c.669C>A (p.Gly223=) c.411C>A (p.Gly137=) c.665C>A c.314-2075C>A (n.314-2075C>A) c.288C>A (p.Gly96=) c.314-1248C>A (n.314-1248C>A) c.11C>A n.561C>A n.528C>A	dbSNP gnomAD v2 gnomAD v4
19	g.11105317C=	CA2322767362	LDLR	c.669C= (p.Gly223=) c.411C= (p.Gly137=) c.665C= c.314-2075C= (n.314-2075C=) c.288C= (p.Gly96=) c.314-1248C= (n.314-1248C=) c.11C= n.561C= n.528C=
19	g.11105317C>G	CA505742210	LDLR	c.669C>G (p.Gly223=) c.411C>G (p.Gly137=) c.665C>G c.314-2075C>G (n.314-2075C>G) c.288C>G (p.Gly96=) c.314-1248C>G (n.314-1248C>G) c.11C>G n.561C>G n.528C>G
19	g.11105317C>T	CA505742211	LDLR	c.669C>T (p.Gly223=) c.411C>T (p.Gly137=) c.665C>T c.314-2075C>T (n.314-2075C>T) c.288C>T (p.Gly96=) c.314-1248C>T (n.314-1248C>T) c.11C>T n.561C>T n.528C>T
19	g.11105318T>A	CA404076377	LDLR	c.670T>A (p.Ser224Thr) c.412T>A (p.Ser138Thr) c.666T>A c.314-2074T>A (n.314-2074T>A) c.289T>A (p.Ser97Thr) c.314-1247T>A (n.314-1247T>A) c.12T>A n.562T>A n.529T>A
19	g.11105318T>C	CA404076378	LDLR	c.670T>C (p.Ser224Pro) c.412T>C (p.Ser138Pro) c.666T>C c.314-2074T>C (n.314-2074T>C) c.289T>C (p.Ser97Pro) c.314-1247T>C (n.314-1247T>C) c.12T>C n.562T>C n.529T>C
19	g.11105318T>G	CA404076379	LDLR	c.670T>G (p.Ser224Ala) c.412T>G (p.Ser138Ala) c.666T>G c.314-2074T>G (n.314-2074T>G) c.289T>G (p.Ser97Ala) c.314-1247T>G (n.314-1247T>G) c.12T>G n.562T>G n.529T>G	gnomAD v4
19	g.11105319C>A	CA404076380	LDLR	c.671C>A (p.Ser224Ter) c.413C>A (p.Ser138Ter) c.667C>A c.314-2073C>A (n.314-2073C>A) c.290C>A (p.Ser97Ter) c.314-1246C>A (n.314-1246C>A) c.13C>A n.563C>A n.530C>A	ClinVar dbSNP
19	g.11105319C=	CA2322767363	LDLR	c.671C= (p.Ser224=) c.413C= (p.Ser138=) c.667C= c.314-2073C= (n.314-2073C=) c.290C= (p.Ser97=) c.314-1246C= (n.314-1246C=) c.13C= n.563C= n.530C=
19	g.11105319C>G	CA043464	LDLR	c.671C>G (p.Ser224Ter) c.413C>G (p.Ser138Ter) c.667C>G c.314-2073C>G (n.314-2073C>G) c.290C>G (p.Ser97Ter) c.314-1246C>G (n.314-1246C>G) c.13C>G n.563C>G n.530C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11105319C>T	CA404076381	LDLR	c.671C>T (p.Ser224Leu) c.413C>T (p.Ser138Leu) c.667C>T c.314-2073C>T (n.314-2073C>T) c.290C>T (p.Ser97Leu) c.314-1246C>T (n.314-1246C>T) c.13C>T n.563C>T n.530C>T	ClinVar gnomAD v4
19	g.11105320_11105323del	CA2582473459	LDLR	c.672_675del (p.Asp225ArgfsTer?) c.414_417del (p.Asp139ArgfsTer?) c.668_671del c.314-2072_314-2069del (n.314-2072_314-2069del) c.291_294del (p.Asp98ArgfsTer?) c.314-1245_314-1242del (n.314-1245_314-1242del) c.14_17del n.564_567del n.531_534del	gnomAD v4
19	g.11105320A>C	CA505742212	LDLR	c.672A>C (p.Ser224=) c.414A>C (p.Ser138=) c.668A>C c.314-2072A>C (n.314-2072A>C) c.291A>C (p.Ser97=) c.314-1245A>C (n.314-1245A>C) c.14A>C n.564A>C n.531A>C
19	g.11105320A>G	CA505742213	LDLR	c.672A>G (p.Ser224=) c.414A>G (p.Ser138=) c.668A>G c.314-2072A>G (n.314-2072A>G) c.291A>G (p.Ser97=) c.314-1245A>G (n.314-1245A>G) c.14A>G n.564A>G n.531A>G
19	g.11105320A>T	CA505742214	LDLR	c.672A>T (p.Ser224=) c.414A>T (p.Ser138=) c.668A>T c.314-2072A>T (n.314-2072A>T) c.291A>T (p.Ser97=) c.314-1245A>T (n.314-1245A>T) c.14A>T n.564A>T n.531A>T
19	g.11105321_11105322del	CA2580096435	LDLR	c.673_674del (p.Asp225ArgfsTer?) c.415_416del (p.Asp139ArgfsTer?) c.669_670del c.314-2071_314-2070del (n.314-2071_314-2070del) c.292_293del (p.Asp98ArgfsTer?) c.314-1244_314-1243del (n.314-1244_314-1243del) c.15_16del n.565_566del n.532_533del	ClinVar
19	g.11105321G>A	CA10584907	LDLR	c.673G>A (p.Asp225Asn) c.415G>A (p.Asp139Asn) c.669G>A c.314-2071G>A (n.314-2071G>A) c.292G>A (p.Asp98Asn) c.314-1244G>A (n.314-1244G>A) c.15G>A n.565G>A n.532G>A	ClinVar dbSNP gnomAD v4
19	g.11105321G>C	CA10584908	LDLR	c.673G>C (p.Asp225His) c.415G>C (p.Asp139His) c.669G>C c.314-2071G>C (n.314-2071G>C) c.292G>C (p.Asp98His) c.314-1244G>C (n.314-1244G>C) c.15G>C n.565G>C n.532G>C	ClinVar dbSNP COSMIC
19	g.11105321G=	CA2322767364	LDLR	c.673G= (p.Asp225=) c.415G= (p.Asp139=) c.669G= c.314-2071G= (n.314-2071G=) c.292G= (p.Asp98=) c.314-1244G= (n.314-1244G=) c.15G= n.565G= n.532G=
19	g.11105321G>T	CA404076382	LDLR	c.673G>T (p.Asp225Tyr) c.415G>T (p.Asp139Tyr) c.669G>T c.314-2071G>T (n.314-2071G>T) c.292G>T (p.Asp98Tyr) c.314-1244G>T (n.314-1244G>T) c.15G>T n.565G>T n.532G>T
19	g.11105322A=	CA2322767365	LDLR	c.674A= (p.Asp225=) c.416A= (p.Asp139=) c.670A= c.314-2070A= (n.314-2070A=) c.293A= (p.Asp98=) c.314-1243A= (n.314-1243A=) c.16A= n.566A= n.533A=
19	g.11105322A>C	CA404076383	LDLR	c.674A>C (p.Asp225Ala) c.416A>C (p.Asp139Ala) c.670A>C c.314-2070A>C (n.314-2070A>C) c.293A>C (p.Asp98Ala) c.314-1243A>C (n.314-1243A>C) c.16A>C n.566A>C n.533A>C
19	g.11105322A>G	CA10584909	LDLR	c.674A>G (p.Asp225Gly) c.416A>G (p.Asp139Gly) c.670A>G c.314-2070A>G (n.314-2070A>G) c.293A>G (p.Asp98Gly) c.314-1243A>G (n.314-1243A>G) c.16A>G n.566A>G n.533A>G	ClinVar dbSNP
19	g.11105322A>T	CA10584910	LDLR	c.674A>T (p.Asp225Val) c.416A>T (p.Asp139Val) c.670A>T c.314-2070A>T (n.314-2070A>T) c.293A>T (p.Asp98Val) c.314-1243A>T (n.314-1243A>T) c.16A>T n.566A>T n.533A>T	ClinVar dbSNP
19	g.11105323C>A	CA404076384	LDLR	c.675C>A (p.Asp225Glu) c.417C>A (p.Asp139Glu) c.671C>A c.314-2069C>A (n.314-2069C>A) c.294C>A (p.Asp98Glu) c.314-1242C>A (n.314-1242C>A) c.17C>A n.567C>A n.534C>A	ClinVar dbSNP
19	g.11105323C=	CA2322767366	LDLR	c.675C= (p.Asp225=) c.417C= (p.Asp139=) c.671C= c.314-2069C= (n.314-2069C=) c.294C= (p.Asp98=) c.314-1242C= (n.314-1242C=) c.17C= n.567C= n.534C=
19	g.11105323C>G	CA10576282	LDLR	c.675C>G (p.Asp225Glu) c.417C>G (p.Asp139Glu) c.671C>G c.314-2069C>G (n.314-2069C>G) c.294C>G (p.Asp98Glu) c.314-1242C>G (n.314-1242C>G) c.17C>G n.567C>G n.534C>G	ClinVar dbSNP gnomAD v4
19	g.11105323C>T	CA043478	LDLR	c.675C>T (p.Asp225=) c.417C>T (p.Asp139=) c.671C>T c.314-2069C>T (n.314-2069C>T) c.294C>T (p.Asp98=) c.314-1242C>T (n.314-1242C>T) c.17C>T n.567C>T n.534C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.11105323dup	CA2830763872	LDLR	c.675dup (p.Glu226ArgfsTer?) c.417dup (p.Glu140ArgfsTer?) c.671dup c.314-2069dup (n.314-2069dup) c.294dup (p.Glu99ArgfsTer?) c.314-1242dup (n.314-1242dup) c.17dup n.567dup n.534dup
19	g.11105324G>A	CA10584911	LDLR	c.676G>A (p.Glu226Lys) c.418G>A (p.Glu140Lys) c.672G>A c.314-2068G>A (n.314-2068G>A) c.295G>A (p.Glu99Lys) c.314-1241G>A (n.314-1241G>A) c.18G>A n.568G>A n.535G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.11105324G>C	CA404076385	LDLR	c.676G>C (p.Glu226Gln) c.418G>C (p.Glu140Gln) c.672G>C c.314-2068G>C (n.314-2068G>C) c.295G>C (p.Glu99Gln) c.314-1241G>C (n.314-1241G>C) c.18G>C n.568G>C n.535G>C
19	g.11105324G=	CA2322767367	LDLR	c.676G= (p.Glu226=) c.418G= (p.Glu140=) c.672G= c.314-2068G= (n.314-2068G=) c.295G= (p.Glu99=) c.314-1241G= (n.314-1241G=) c.18G= n.568G= n.535G=
19	g.11105324G>T	CA043486	LDLR	c.676G>T (p.Glu226Ter) c.418G>T (p.Glu140Ter) c.672G>T c.314-2068G>T (n.314-2068G>T) c.295G>T (p.Glu99Ter) c.314-1241G>T (n.314-1241G>T) c.18G>T n.568G>T n.535G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11105325A=	CA2322767368	LDLR	c.677A= (p.Glu226=) c.419A= (p.Glu140=) c.673A= c.314-2067A= (n.314-2067A=) c.296A= (p.Glu99=) c.314-1240A= (n.314-1240A=) c.19A= n.569A= n.536A=
19	g.11105325A>C	CA404076386	LDLR	c.677A>C (p.Glu226Ala) c.419A>C (p.Glu140Ala) c.673A>C c.314-2067A>C (n.314-2067A>C) c.296A>C (p.Glu99Ala) c.314-1240A>C (n.314-1240A>C) c.19A>C n.569A>C n.536A>C
19	g.11105325A>G	CA10584912	LDLR	c.677A>G (p.Glu226Gly) c.419A>G (p.Glu140Gly) c.673A>G c.314-2067A>G (n.314-2067A>G) c.296A>G (p.Glu99Gly) c.314-1240A>G (n.314-1240A>G) c.19A>G n.569A>G n.536A>G	ClinVar dbSNP gnomAD v4
19	g.11105325A>T	CA404076387	LDLR	c.677A>T (p.Glu226Val) c.419A>T (p.Glu140Val) c.673A>T c.314-2067A>T (n.314-2067A>T) c.296A>T (p.Glu99Val) c.314-1240A>T (n.314-1240A>T) c.19A>T n.569A>T n.536A>T
19	g.11105326G>A	CA505742216	LDLR	c.678G>A (p.Glu226=) c.420G>A (p.Glu140=) c.674G>A c.314-2066G>A (n.314-2066G>A) c.297G>A (p.Glu99=) c.314-1239G>A (n.314-1239G>A) c.20G>A n.570G>A n.537G>A	gnomAD v4
19	g.11105326G>C	CA10584913	LDLR	c.678G>C (p.Glu226Asp) c.420G>C (p.Glu140Asp) c.674G>C c.314-2066G>C (n.314-2066G>C) c.297G>C (p.Glu99Asp) c.314-1239G>C (n.314-1239G>C) c.20G>C n.570G>C n.537G>C	ClinVar dbSNP
19	g.11105326G=	CA2322767369	LDLR	c.678G= (p.Glu226=) c.420G= (p.Glu140=) c.674G= c.314-2066G= (n.314-2066G=) c.297G= (p.Glu99=) c.314-1239G= (n.314-1239G=) c.20G= n.570G= n.537G=
19	g.11105326G>T	CA10584914	LDLR	c.678G>T (p.Glu226Asp) c.420G>T (p.Glu140Asp) c.674G>T c.314-2066G>T (n.314-2066G>T) c.297G>T (p.Glu99Asp) c.314-1239G>T (n.314-1239G>T) c.20G>T n.570G>T n.537G>T	ClinVar dbSNP
19	g.11105326_11105333delinsGGCCTCCT	CA2322767370	LDLR	c.678_685delinsGGCCTCCT (p.Glu226=) c.420_427delinsGGCCTCCT (p.Glu140=) c.674_681delinsGGCCTCCT c.314-2066_314-2059delinsGGCCTCCT (n.314-2066_314-2059delinsGGCCTCCT) c.297_304delinsGGCCTCCT (p.Glu99=) c.314-1239_314-1232delinsGGCCTCCT (n.314-1239_314-1232delinsGGCCTCCT) c.20_27delinsGGCCTCCT n.570_577delinsGGCCTCCT n.537_544delinsGGCCTCCT
19	g.11105327G>A	CA404076391	LDLR	c.679G>A (p.Ala227Thr) c.421G>A (p.Ala141Thr) c.675G>A c.314-2065G>A (n.314-2065G>A) c.298G>A (p.Ala100Thr) c.314-1238G>A (n.314-1238G>A) c.21G>A n.571G>A n.538G>A	ClinVar dbSNP
19	g.11105327G>C	CA404076393	LDLR	c.679G>C (p.Ala227Pro) c.421G>C (p.Ala141Pro) c.675G>C c.314-2065G>C (n.314-2065G>C) c.298G>C (p.Ala100Pro) c.314-1238G>C (n.314-1238G>C) c.21G>C n.571G>C n.538G>C
19	g.11105327G=	CA2322767371	LDLR	c.679G= (p.Ala227=) c.421G= (p.Ala141=) c.675G= c.314-2065G= (n.314-2065G=) c.298G= (p.Ala100=) c.314-1238G= (n.314-1238G=) c.21G= n.571G= n.538G=
19	g.11105327G>T	CA404076395	LDLR	c.679G>T (p.Ala227Ser) c.421G>T (p.Ala141Ser) c.675G>T c.314-2065G>T (n.314-2065G>T) c.298G>T (p.Ala100Ser) c.314-1238G>T (n.314-1238G>T) c.21G>T n.571G>T n.538G>T
19	g.11105330_11105336del	CA10584915	LDLR	c.682_688del (p.Ser228ArgfsTer?) c.424_430del (p.Ser142ArgfsTer?) c.678_684del c.314-2062_314-2056del (n.314-2062_314-2056del) c.301_307del (p.Ser101ArgfsTer?) c.314-1235_314-1229del (n.314-1235_314-1229del) c.24_30del n.574_580del n.541_547del	ClinVar dbSNP
19	g.11105328C>A	CA404076398	LDLR	c.680C>A (p.Ala227Asp) c.422C>A (p.Ala141Asp) c.676C>A c.314-2064C>A (n.314-2064C>A) c.299C>A (p.Ala100Asp) c.314-1237C>A (n.314-1237C>A) c.22C>A n.572C>A n.539C>A	gnomAD v4
19	g.11105328C=	CA2322767372	LDLR	c.680C= (p.Ala227=) c.422C= (p.Ala141=) c.676C= c.314-2064C= (n.314-2064C=) c.299C= (p.Ala100=) c.314-1237C= (n.314-1237C=) c.22C= n.572C= n.539C=
19	g.11105328C>G	CA404076400	LDLR	c.680C>G (p.Ala227Gly) c.422C>G (p.Ala141Gly) c.676C>G c.314-2064C>G (n.314-2064C>G) c.299C>G (p.Ala100Gly) c.314-1237C>G (n.314-1237C>G) c.22C>G n.572C>G n.539C>G
19	g.11105328C>T	CA404076402	LDLR	c.680C>T (p.Ala227Val) c.422C>T (p.Ala141Val) c.676C>T c.314-2064C>T (n.314-2064C>T) c.299C>T (p.Ala100Val) c.314-1237C>T (n.314-1237C>T) c.22C>T n.572C>T n.539C>T	dbSNP gnomAD v3 gnomAD v4
19	g.11105329C>A	CA505743048	LDLR	c.681C>A (p.Ala227=) c.423C>A (p.Ala141=) c.677C>A c.314-2063C>A (n.314-2063C>A) c.300C>A (p.Ala100=) c.314-1236C>A (n.314-1236C>A) c.23C>A n.573C>A n.540C>A
19	g.11105329C>G	CA505743049	LDLR	c.681C>G (p.Ala227=) c.423C>G (p.Ala141=) c.677C>G c.314-2063C>G (n.314-2063C>G) c.300C>G (p.Ala100=) c.314-1236C>G (n.314-1236C>G) c.23C>G n.573C>G n.540C>G
19	g.11105329C>T	CA505743052	LDLR	c.681C>T (p.Ala227=) c.423C>T (p.Ala141=) c.677C>T c.314-2063C>T (n.314-2063C>T) c.300C>T (p.Ala100=) c.314-1236C>T (n.314-1236C>T) c.23C>T n.573C>T n.540C>T	ClinVar gnomAD v4
19	g.11105330T>A	CA043499	LDLR	c.682T>A (p.Ser228Thr) c.424T>A (p.Ser142Thr) c.678T>A c.314-2062T>A (n.314-2062T>A) c.301T>A (p.Ser101Thr) c.314-1235T>A (n.314-1235T>A) c.24T>A n.574T>A n.541T>A	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11105330T>C	CA404076405	LDLR	c.682T>C (p.Ser228Pro) c.424T>C (p.Ser142Pro) c.678T>C c.314-2062T>C (n.314-2062T>C) c.301T>C (p.Ser101Pro) c.314-1235T>C (n.314-1235T>C) c.24T>C n.574T>C n.541T>C
19	g.11105330T>G	CA043516	LDLR	c.682T>G (p.Ser228Ala) c.424T>G (p.Ser142Ala) c.678T>G c.314-2062T>G (n.314-2062T>G) c.301T>G (p.Ser101Ala) c.314-1235T>G (n.314-1235T>G) c.24T>G n.574T>G n.541T>G	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11105330T=	CA2322767373	LDLR	c.682T= (p.Ser228=) c.424T= (p.Ser142=) c.678T= c.314-2062T= (n.314-2062T=) c.301T= (p.Ser101=) c.314-1235T= (n.314-1235T=) c.24T= n.574T= n.541T=
19	g.11105331C>A	CA404076408	LDLR	c.683C>A (p.Ser228Tyr) c.425C>A (p.Ser142Tyr) c.679C>A c.314-2061C>A (n.314-2061C>A) c.302C>A (p.Ser101Tyr) c.314-1234C>A (n.314-1234C>A) c.25C>A n.575C>A n.542C>A
19	g.11105331C>G	CA404076410	LDLR	c.683C>G (p.Ser228Cys) c.425C>G (p.Ser142Cys) c.679C>G c.314-2061C>G (n.314-2061C>G) c.302C>G (p.Ser101Cys) c.314-1234C>G (n.314-1234C>G) c.25C>G n.575C>G n.542C>G
19	g.11105331C>T	CA404076411	LDLR	c.683C>T (p.Ser228Phe) c.425C>T (p.Ser142Phe) c.679C>T c.314-2061C>T (n.314-2061C>T) c.302C>T (p.Ser101Phe) c.314-1234C>T (n.314-1234C>T) c.25C>T n.575C>T n.542C>T	ClinVar gnomAD v4 COSMIC
19	g.11105332C>A	CA505743057	LDLR	c.684C>A (p.Ser228=) c.426C>A (p.Ser142=) c.680C>A c.314-2060C>A (n.314-2060C>A) c.303C>A (p.Ser101=) c.314-1233C>A (n.314-1233C>A) c.26C>A n.576C>A n.543C>A	ClinVar dbSNP
19	g.11105332C=	CA2322767374	LDLR	c.684C= (p.Ser228=) c.426C= (p.Ser142=) c.680C= c.314-2060C= (n.314-2060C=) c.303C= (p.Ser101=) c.314-1233C= (n.314-1233C=) c.26C= n.576C= n.543C=
19	g.11105332C>G	CA505743058	LDLR	c.684C>G (p.Ser228=) c.426C>G (p.Ser142=) c.680C>G c.314-2060C>G (n.314-2060C>G) c.303C>G (p.Ser101=) c.314-1233C>G (n.314-1233C>G) c.26C>G n.576C>G n.543C>G
19	g.11105332C>T	CA505743059	LDLR	c.684C>T (p.Ser228=) c.426C>T (p.Ser142=) c.680C>T c.314-2060C>T (n.314-2060C>T) c.303C>T (p.Ser101=) c.314-1233C>T (n.314-1233C>T) c.26C>T n.576C>T n.543C>T	gnomAD v4
19	g.11105333T>A	CA404076414	LDLR	c.685T>A (p.Cys229Ser) c.427T>A (p.Cys143Ser) c.681T>A c.314-2059T>A (n.314-2059T>A) c.304T>A (p.Cys102Ser) c.314-1232T>A (n.314-1232T>A) c.27T>A n.577T>A n.544T>A	ClinVar dbSNP
19	g.11105333T>C	CA10584916	LDLR	c.685T>C (p.Cys229Arg) c.427T>C (p.Cys143Arg) c.681T>C c.314-2059T>C (n.314-2059T>C) c.304T>C (p.Cys102Arg) c.314-1232T>C (n.314-1232T>C) c.27T>C n.577T>C n.544T>C	ClinVar dbSNP gnomAD v4
19	g.11105333T>G	CA10576283	LDLR	c.685T>G (p.Cys229Gly) c.427T>G (p.Cys143Gly) c.681T>G c.314-2059T>G (n.314-2059T>G) c.304T>G (p.Cys102Gly) c.314-1232T>G (n.314-1232T>G) c.27T>G n.577T>G n.544T>G	ClinVar dbSNP gnomAD v4
19	g.11105333T=	CA2322767375	LDLR	c.685T= (p.Cys229=) c.427T= (p.Cys143=) c.681T= c.314-2059T= (n.314-2059T=) c.304T= (p.Cys102=) c.314-1232T= (n.314-1232T=) c.27T= n.577T= n.544T=
19	g.11105334G>A	CA10584917	LDLR	c.686G>A (p.Cys229Tyr) c.428G>A (p.Cys143Tyr) c.682G>A c.314-2058G>A (n.314-2058G>A) c.305G>A (p.Cys102Tyr) c.314-1231G>A (n.314-1231G>A) c.28G>A n.578G>A n.545G>A	ClinVar dbSNP gnomAD v4
19	g.11105334G>C	CA10654844	LDLR	c.686G>C (p.Cys229Ser) c.428G>C (p.Cys143Ser) c.682G>C c.314-2058G>C (n.314-2058G>C) c.305G>C (p.Cys102Ser) c.314-1231G>C (n.314-1231G>C) c.28G>C n.578G>C n.545G>C	ClinVar dbSNP
19	g.11105334G=	CA2322767376	LDLR	c.686G= (p.Cys229=) c.428G= (p.Cys143=) c.682G= c.314-2058G= (n.314-2058G=) c.305G= (p.Cys102=) c.314-1231G= (n.314-1231G=) c.28G= n.578G= n.545G=
19	g.11105334G>T	CA404076416	LDLR	c.686G>T (p.Cys229Phe) c.428G>T (p.Cys143Phe) c.682G>T c.314-2058G>T (n.314-2058G>T) c.305G>T (p.Cys102Phe) c.314-1231G>T (n.314-1231G>T) c.28G>T n.578G>T n.545G>T	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.11105335C>A	CA043532	LDLR	c.687C>A (p.Cys229Ter) c.429C>A (p.Cys143Ter) c.683C>A c.314-2057C>A (n.314-2057C>A) c.306C>A (p.Cys102Ter) c.314-1230C>A (n.314-1230C>A) c.29C>A n.579C>A n.546C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11105335C=	CA2322767377	LDLR	c.687C= (p.Cys229=) c.429C= (p.Cys143=) c.683C= c.314-2057C= (n.314-2057C=) c.306C= (p.Cys102=) c.314-1230C= (n.314-1230C=) c.29C= n.579C= n.546C=
19	g.11105335C>G	CA404076419	LDLR	c.687C>G (p.Cys229Trp) c.429C>G (p.Cys143Trp) c.683C>G c.314-2057C>G (n.314-2057C>G) c.306C>G (p.Cys102Trp) c.314-1230C>G (n.314-1230C>G) c.29C>G n.579C>G n.546C>G
19	g.11105335C>T	CA505743063	LDLR	c.687C>T (p.Cys229=) c.429C>T (p.Cys143=) c.683C>T c.314-2057C>T (n.314-2057C>T) c.306C>T (p.Cys102=) c.314-1230C>T (n.314-1230C>T) c.29C>T n.579C>T n.546C>T	gnomAD v4
19	g.11105337dup	CA2582473460	LDLR	c.689dup (p.Val231GlyfsTer?) c.431dup (p.Val145GlyfsTer?) c.685dup c.314-2055dup (n.314-2055dup) c.308dup (p.Val104GlyfsTer?) c.314-1228dup (n.314-1228dup) c.31dup n.581dup n.548dup	gnomAD v4
19	g.11105336C>A	CA404076422	LDLR	c.688C>A (p.Pro230Thr) c.430C>A (p.Pro144Thr) c.684C>A c.314-2056C>A (n.314-2056C>A) c.307C>A (p.Pro103Thr) c.314-1229C>A (n.314-1229C>A) c.30C>A n.580C>A n.547C>A
19	g.11105336C=	CA2322767378	LDLR	c.688C= (p.Pro230=) c.430C= (p.Pro144=) c.684C= c.314-2056C= (n.314-2056C=) c.307C= (p.Pro103=) c.314-1229C= (n.314-1229C=) c.30C= n.580C= n.547C=
19	g.11105336C>G	CA404076425	LDLR	c.688C>G (p.Pro230Ala) c.430C>G (p.Pro144Ala) c.684C>G c.314-2056C>G (n.314-2056C>G) c.307C>G (p.Pro103Ala) c.314-1229C>G (n.314-1229C>G) c.30C>G n.580C>G n.547C>G
19	g.11105336C>T	CA404076427	LDLR	c.688C>T (p.Pro230Ser) c.430C>T (p.Pro144Ser) c.684C>T c.314-2056C>T (n.314-2056C>T) c.307C>T (p.Pro103Ser) c.314-1229C>T (n.314-1229C>T) c.30C>T n.580C>T n.547C>T
19	g.11105337C>A	CA404076429	LDLR	c.689C>A (p.Pro230Gln) c.431C>A (p.Pro144Gln) c.685C>A c.314-2055C>A (n.314-2055C>A) c.308C>A (p.Pro103Gln) c.314-1228C>A (n.314-1228C>A) c.31C>A n.581C>A n.548C>A
19	g.11105337C=	CA2322767379	LDLR	c.689C= (p.Pro230=) c.431C= (p.Pro144=) c.685C= c.314-2055C= (n.314-2055C=) c.308C= (p.Pro103=) c.314-1228C= (n.314-1228C=) c.31C= n.581C= n.548C=
19	g.11105337C>G	CA404076432	LDLR	c.689C>G (p.Pro230Arg) c.431C>G (p.Pro144Arg) c.685C>G c.314-2055C>G (n.314-2055C>G) c.308C>G (p.Pro103Arg) c.314-1228C>G (n.314-1228C>G) c.31C>G n.581C>G n.548C>G	ClinVar dbSNP
19	g.11105337C>T	CA305296798	LDLR	c.689C>T (p.Pro230Leu) c.431C>T (p.Pro144Leu) c.685C>T c.314-2055C>T (n.314-2055C>T) c.308C>T (p.Pro103Leu) c.314-1228C>T (n.314-1228C>T) c.31C>T n.581C>T n.548C>T	ClinVar dbSNP gnomAD v4
19	g.11105337_11105340dup	CA10584918	LDLR	c.689_692dup (p.Leu232GlyfsTer?) c.431_434dup (p.Leu146GlyfsTer?) c.685_688dup c.314-2055_314-2052dup (n.314-2055_314-2052dup) c.308_311dup (p.Leu105GlyfsTer?) c.314-1228_314-1225dup (n.314-1228_314-1225dup) c.31_34dup n.581_584dup n.548_551dup	ClinVar dbSNP
19	g.11105338G>A	CA043545	LDLR	c.690G>A (p.Pro230=) c.432G>A (p.Pro144=) c.686G>A c.314-2054G>A (n.314-2054G>A) c.309G>A (p.Pro103=) c.314-1227G>A (n.314-1227G>A) c.32G>A n.582G>A n.549G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.11105338G>C	CA505743067	LDLR	c.690G>C (p.Pro230=) c.432G>C (p.Pro144=) c.686G>C c.314-2054G>C (n.314-2054G>C) c.309G>C (p.Pro103=) c.314-1227G>C (n.314-1227G>C) c.32G>C n.582G>C n.549G>C	ClinVar dbSNP gnomAD v4
19	g.11105338G=	CA2322767380	LDLR	c.690G= (p.Pro230=) c.432G= (p.Pro144=) c.686G= c.314-2054G= (n.314-2054G=) c.309G= (p.Pro103=) c.314-1227G= (n.314-1227G=) c.32G= n.582G= n.549G=
19	g.11105338G>T	CA505743064	LDLR	c.690G>T (p.Pro230=) c.432G>T (p.Pro144=) c.686G>T c.314-2054G>T (n.314-2054G>T) c.309G>T (p.Pro103=) c.314-1227G>T (n.314-1227G>T) c.32G>T n.582G>T n.549G>T	ClinVar gnomAD v4
19	g.11105339dup	CA1139666291	LDLR	c.691dup (p.Val231GlyfsTer?) c.433dup (p.Val145GlyfsTer?) c.687dup c.314-2053dup (n.314-2053dup) c.310dup (p.Val104GlyfsTer?) c.314-1226dup (n.314-1226dup) c.33dup n.583dup n.550dup	ClinVar dbSNP
19	g.11105338_11105339insA	CA2497030116	LDLR	c.690_691insA (p.Val231SerfsTer?) c.432_433insA (p.Val145SerfsTer?) c.686_687insA c.314-2054_314-2053insA (n.314-2054_314-2053insA) c.309_310insA (p.Val104SerfsTer?) c.314-1227_314-1226insA (n.314-1227_314-1226insA) c.32_33insA n.582_583insA n.549_550insA
19	g.11105339G>A	CA404076435	LDLR	c.691G>A (p.Val231Met) c.433G>A (p.Val145Met) c.687G>A c.314-2053G>A (n.314-2053G>A) c.310G>A (p.Val104Met) c.314-1226G>A (n.314-1226G>A) c.33G>A n.583G>A n.550G>A
19	g.11105339G>C	CA404076437	LDLR	c.691G>C (p.Val231Leu) c.433G>C (p.Val145Leu) c.687G>C c.314-2053G>C (n.314-2053G>C) c.310G>C (p.Val104Leu) c.314-1226G>C (n.314-1226G>C) c.33G>C n.583G>C n.550G>C
19	g.11105339G>T	CA404076439	LDLR	c.691G>T (p.Val231Leu) c.433G>T (p.Val145Leu) c.687G>T c.314-2053G>T (n.314-2053G>T) c.310G>T (p.Val104Leu) c.314-1226G>T (n.314-1226G>T) c.33G>T n.583G>T n.550G>T
19	g.11105340T>A	CA404076441	LDLR	c.692T>A (p.Val231Glu) c.434T>A (p.Val145Glu) c.688T>A c.314-2052T>A (n.314-2052T>A) c.311T>A (p.Val104Glu) c.314-1225T>A (n.314-1225T>A) c.34T>A n.584T>A n.551T>A
19	g.11105340T>C	CA043591	LDLR	c.692T>C (p.Val231Ala) c.434T>C (p.Val145Ala) c.688T>C c.314-2052T>C (n.314-2052T>C) c.311T>C (p.Val104Ala) c.314-1225T>C (n.314-1225T>C) c.34T>C n.584T>C n.551T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.11105340T>G	CA404076444	LDLR	c.692T>G (p.Val231Gly) c.434T>G (p.Val145Gly) c.688T>G c.314-2052T>G (n.314-2052T>G) c.311T>G (p.Val104Gly) c.314-1225T>G (n.314-1225T>G) c.34T>G n.584T>G n.551T>G
19	g.11105340T=	CA2322767381	LDLR	c.692T= (p.Val231=) c.434T= (p.Val145=) c.688T= c.314-2052T= (n.314-2052T=) c.311T= (p.Val104=) c.314-1225T= (n.314-1225T=) c.34T= n.584T= n.551T=
19	g.11105341_11105363del	CA2582473461	LDLR	c.693_715del (p.Leu232ProfsTer26) c.435_457del (p.Leu146ProfsTer26) c.689_711del c.314-2051_314-2029del (n.314-2051_314-2029del) c.312_334del (p.Leu105ProfsTer26) c.314-1224_314-1202del (n.314-1224_314-1202del) c.35_57del n.585_607del n.552_574del	gnomAD v4
19	g.11105341G>A	CA505743071	LDLR	c.693G>A (p.Val231=) c.435G>A (p.Val145=) c.689G>A c.314-2051G>A (n.314-2051G>A) c.312G>A (p.Val104=) c.314-1224G>A (n.314-1224G>A) c.35G>A n.585G>A n.552G>A
19	g.11105341G>C	CA505743072	LDLR	c.693G>C (p.Val231=) c.435G>C (p.Val145=) c.689G>C c.314-2051G>C (n.314-2051G>C) c.312G>C (p.Val104=) c.314-1224G>C (n.314-1224G>C) c.35G>C n.585G>C n.552G>C	gnomAD v4
19	g.11105341G>T	CA505743073	LDLR	c.693G>T (p.Val231=) c.435G>T (p.Val145=) c.689G>T c.314-2051G>T (n.314-2051G>T) c.312G>T (p.Val104=) c.314-1224G>T (n.314-1224G>T) c.35G>T n.585G>T n.552G>T
19	g.11105342C>A	CA404076446	LDLR	c.694C>A (p.Leu232Ile) c.436C>A (p.Leu146Ile) c.690C>A c.314-2050C>A (n.314-2050C>A) c.313C>A (p.Leu105Ile) c.314-1223C>A (n.314-1223C>A) c.36C>A n.586C>A n.553C>A
19	g.11105342C=	CA2322767382	LDLR	c.694C= (p.Leu232=) c.436C= (p.Leu146=) c.690C= c.314-2050C= (n.314-2050C=) c.313C= (p.Leu105=) c.314-1223C= (n.314-1223C=) c.36C= n.586C= n.553C=
19	g.11105342C>G	CA404076450	LDLR	c.694C>G (p.Leu232Val) c.436C>G (p.Leu146Val) c.690C>G c.314-2050C>G (n.314-2050C>G) c.313C>G (p.Leu105Val) c.314-1223C>G (n.314-1223C>G) c.36C>G n.586C>G n.553C>G
19	g.11105342C>T	CA404076448	LDLR	c.694C>T (p.Leu232Phe) c.436C>T (p.Leu146Phe) c.690C>T c.314-2050C>T (n.314-2050C>T) c.313C>T (p.Leu105Phe) c.314-1223C>T (n.314-1223C>T) c.36C>T n.586C>T n.553C>T	dbSNP gnomAD v2 gnomAD v4
19	g.11105343T>A	CA404076452	LDLR	c.695T>A (p.Leu232His) c.437T>A (p.Leu146His) c.691T>A c.314-2049T>A (n.314-2049T>A) c.314T>A (p.Leu105His) c.314-1222T>A (n.314-1222T>A) c.37T>A n.587T>A n.554T>A
19	g.11105343T>C	CA404076453	LDLR	c.695T>C (p.Leu232Pro) c.437T>C (p.Leu146Pro) c.691T>C c.314-2049T>C (n.314-2049T>C) c.314T>C (p.Leu105Pro) c.314-1222T>C (n.314-1222T>C) c.37T>C n.587T>C n.554T>C	gnomAD v4
19	g.11105343T>G	CA404076455	LDLR	c.695T>G (p.Leu232Arg) c.437T>G (p.Leu146Arg) c.691T>G c.314-2049T>G (n.314-2049T>G) c.314T>G (p.Leu105Arg) c.314-1222T>G (n.314-1222T>G) c.37T>G n.587T>G n.554T>G
19	g.11105344C>A	CA043600	LDLR	c.696C>A (p.Leu232=) c.438C>A (p.Leu146=) c.692C>A c.314-2048C>A (n.314-2048C>A) c.315C>A (p.Leu105=) c.314-1221C>A (n.314-1221C>A) c.38C>A n.588C>A n.555C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.11105344C=	CA2322767383	LDLR	c.696C= (p.Leu232=) c.438C= (p.Leu146=) c.692C= c.314-2048C= (n.314-2048C=) c.315C= (p.Leu105=) c.314-1221C= (n.314-1221C=) c.38C= n.588C= n.555C=
19	g.11105344C>G	CA505743076	LDLR	c.696C>G (p.Leu232=) c.438C>G (p.Leu146=) c.692C>G c.314-2048C>G (n.314-2048C>G) c.315C>G (p.Leu105=) c.314-1221C>G (n.314-1221C>G) c.38C>G n.588C>G n.555C>G
19	g.11105344C>T	CA505743078	LDLR	c.696C>T (p.Leu232=) c.438C>T (p.Leu146=) c.692C>T c.314-2048C>T (n.314-2048C>T) c.315C>T (p.Leu105=) c.314-1221C>T (n.314-1221C>T) c.38C>T n.588C>T n.555C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.11105345A=	CA2322767384	LDLR	c.697A= (p.Thr233=) c.439A= (p.Thr147=) c.693A= c.314-2047A= (n.314-2047A=) c.316A= (p.Thr106=) c.314-1220A= (n.314-1220A=) c.39A= n.589A= n.556A=
19	g.11105345A>C	CA404076457	LDLR	c.697A>C (p.Thr233Pro) c.439A>C (p.Thr147Pro) c.693A>C c.314-2047A>C (n.314-2047A>C) c.316A>C (p.Thr106Pro) c.314-1220A>C (n.314-1220A>C) c.39A>C n.589A>C n.556A>C	dbSNP
19	g.11105345A>G	CA404076458	LDLR	c.697A>G (p.Thr233Ala) c.439A>G (p.Thr147Ala) c.693A>G c.314-2047A>G (n.314-2047A>G) c.316A>G (p.Thr106Ala) c.314-1220A>G (n.314-1220A>G) c.39A>G n.589A>G n.556A>G
19	g.11105345A>T	CA404076459	LDLR	c.697A>T (p.Thr233Ser) c.439A>T (p.Thr147Ser) c.693A>T c.314-2047A>T (n.314-2047A>T) c.316A>T (p.Thr106Ser) c.314-1220A>T (n.314-1220A>T) c.39A>T n.589A>T n.556A>T
19	g.11105345_11105357del	CA2695223198	LDLR	c.697_709del (p.Thr233ProfsTer?) c.439_451del (p.Thr147ProfsTer?) c.693_705del c.314-2047_314-2035del (n.314-2047_314-2035del) c.316_328del (p.Thr106ProfsTer?) c.314-1220_314-1208del (n.314-1220_314-1208del) c.39_51del n.589_601del n.556_568del
19	g.11105346C>A	CA404076462	LDLR	c.698C>A (p.Thr233Asn) c.440C>A (p.Thr147Asn) c.694C>A c.314-2046C>A (n.314-2046C>A) c.317C>A (p.Thr106Asn) c.314-1219C>A (n.314-1219C>A) c.40C>A n.590C>A n.557C>A
19	g.11105346C=	CA2322767385	LDLR	c.698C= (p.Thr233=) c.440C= (p.Thr147=) c.694C= c.314-2046C= (n.314-2046C=) c.317C= (p.Thr106=) c.314-1219C= (n.314-1219C=) c.40C= n.590C= n.557C=
19	g.11105346C>G	CA404076463	LDLR	c.698C>G (p.Thr233Ser) c.440C>G (p.Thr147Ser) c.694C>G c.314-2046C>G (n.314-2046C>G) c.317C>G (p.Thr106Ser) c.314-1219C>G (n.314-1219C>G) c.40C>G n.590C>G n.557C>G	dbSNP
19	g.11105346C>T	CA10584919	LDLR	c.698C>T (p.Thr233Ile) c.440C>T (p.Thr147Ile) c.694C>T c.314-2046C>T (n.314-2046C>T) c.317C>T (p.Thr106Ile) c.314-1219C>T (n.314-1219C>T) c.40C>T n.590C>T n.557C>T	ClinVar dbSNP
19	g.11105346_11105352del	CA2582473462	LDLR	c.698_704del (p.Thr233IlefsTer?) c.440_446del (p.Thr147IlefsTer?) c.694_700del c.314-2046_314-2040del (n.314-2046_314-2040del) c.317_323del (p.Thr106IlefsTer?) c.314-1219_314-1213del (n.314-1219_314-1213del) c.40_46del n.590_596del n.557_563del	gnomAD v4
19	g.11105346_11105356dup	CA658653700	LDLR	c.698_708dup (p.Ala237ProfsTer?) c.440_450dup (p.Ala151ProfsTer?) c.694_704dup c.314-2046_314-2036dup (n.314-2046_314-2036dup) c.317_327dup (p.Ala110ProfsTer?) c.314-1219_314-1209dup (n.314-1219_314-1209dup) c.40_50dup n.590_600dup n.557_567dup	ClinVar dbSNP
19	g.11105346_11105409delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA	CA2322767386	LDLR	c.698_761delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr233=) c.440_503delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr147=) c.694_757delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA c.314-2046_314-1983delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (n.314-2046_314-1983delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA) c.317_380delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr106=) c.314-1219_314-1156delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (n.314-1219_314-1156delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA) c.40_103delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA n.590_653delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA n.557_620delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA
19	g.11105347C>A	CA505743080	LDLR	c.699C>A (p.Thr233=) c.441C>A (p.Thr147=) c.695C>A c.314-2045C>A (n.314-2045C>A) c.318C>A (p.Thr106=) c.314-1218C>A (n.314-1218C>A) c.41C>A n.591C>A n.558C>A
19	g.11105347C>G	CA505743081	LDLR	c.699C>G (p.Thr233=) c.441C>G (p.Thr147=) c.695C>G c.314-2045C>G (n.314-2045C>G) c.318C>G (p.Thr106=) c.314-1218C>G (n.314-1218C>G) c.41C>G n.591C>G n.558C>G
19	g.11105347C>T	CA505743082	LDLR	c.699C>T (p.Thr233=) c.441C>T (p.Thr147=) c.695C>T c.314-2045C>T (n.314-2045C>T) c.318C>T (p.Thr106=) c.314-1218C>T (n.314-1218C>T) c.41C>T n.591C>T n.558C>T	ClinVar dbSNP gnomAD v4
19	g.11105347_11105410delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC	CA2322767387	LDLR	c.699_762delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr233=) c.441_504delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr147=) c.695_758delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC c.314-2045_314-1982delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (n.314-2045_314-1982delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC) c.318_381delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr106=) c.314-1218_314-1155delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (n.314-1218_314-1155delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC) c.41_104delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC n.591_654delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC n.558_621delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC
19	g.11105348_11105410del	CA16602300	LDLR	c.700_762del (p.Cys234_Asp254del) c.442_504del (p.Cys148_Asp168del) c.696_758del c.314-2044_314-1982del (n.314-2044_314-1982del) c.319_381del (p.Cys107_Asp127del) c.314-1217_314-1155del (n.314-1217_314-1155del) c.42_104del n.592_654del n.559_621del	ClinVar dbSNP
19	g.11105348T>A	CA404076472	LDLR	c.700T>A (p.Cys234Ser) c.442T>A (p.Cys148Ser) c.696T>A c.314-2044T>A (n.314-2044T>A) c.319T>A (p.Cys107Ser) c.314-1217T>A (n.314-1217T>A) c.42T>A n.592T>A n.559T>A
19	g.11105348T>C	CA10584920	LDLR	c.700T>C (p.Cys234Arg) c.442T>C (p.Cys148Arg) c.696T>C c.314-2044T>C (n.314-2044T>C) c.319T>C (p.Cys107Arg) c.314-1217T>C (n.314-1217T>C) c.42T>C n.592T>C n.559T>C	ClinVar dbSNP
19	g.11105348T>G	CA404076467	LDLR	c.700T>G (p.Cys234Gly) c.442T>G (p.Cys148Gly) c.696T>G c.314-2044T>G (n.314-2044T>G) c.319T>G (p.Cys107Gly) c.314-1217T>G (n.314-1217T>G) c.42T>G n.592T>G n.559T>G
19	g.11105348T=	CA2322767388	LDLR	c.700T= (p.Cys234=) c.442T= (p.Cys148=) c.696T= c.314-2044T= (n.314-2044T=) c.319T= (p.Cys107=) c.314-1217T= (n.314-1217T=) c.42T= n.592T= n.559T=
19	g.11105348_11105351dup	CA2573050570	LDLR	c.700_703dup (p.Gly235ValfsTer?) c.442_445dup (p.Gly149ValfsTer?) c.696_699dup c.314-2044_314-2041dup (n.314-2044_314-2041dup) c.319_322dup (p.Gly108ValfsTer?) c.314-1217_314-1214dup (n.314-1217_314-1214dup) c.42_45dup n.592_595dup n.559_562dup
19	g.11105348_11105368delinsA	CA2573050571	LDLR	c.700_720delinsA (p.Cys234MetfsTer25) c.442_462delinsA (p.Cys148MetfsTer25) c.696_716delinsA c.314-2044_314-2024delinsA (n.314-2044_314-2024delinsA) c.319_339delinsA (p.Cys107MetfsTer25) c.314-1217_314-1197delinsA (n.314-1217_314-1197delinsA) c.42_62delinsA n.592_612delinsA n.559_579delinsA
19	g.11105348_11105410delinsA	CA645373223	LDLR	c.700_762delinsA (p.Cys234LysfsTer11) c.442_504delinsA (p.Cys148LysfsTer11) c.696_758delinsA c.314-2044_314-1982delinsA (n.314-2044_314-1982delinsA) c.319_381delinsA (p.Cys107LysfsTer11) c.314-1217_314-1155delinsA (n.314-1217_314-1155delinsA) c.42_104delinsA n.592_654delinsA n.559_621delinsA	ClinVar dbSNP
19	g.11105349G>A	CA10584921	LDLR	c.701G>A (p.Cys234Tyr) c.443G>A (p.Cys148Tyr) c.697G>A c.314-2043G>A (n.314-2043G>A) c.320G>A (p.Cys107Tyr) c.314-1216G>A (n.314-1216G>A) c.43G>A n.593G>A n.560G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.11105349G>C	CA10584922	LDLR	c.701G>C (p.Cys234Ser) c.443G>C (p.Cys148Ser) c.697G>C c.314-2043G>C (n.314-2043G>C) c.320G>C (p.Cys107Ser) c.314-1216G>C (n.314-1216G>C) c.43G>C n.593G>C n.560G>C	ClinVar dbSNP
19	g.11105349G=	CA2322767389	LDLR	c.701G= (p.Cys234=) c.443G= (p.Cys148=) c.697G= c.314-2043G= (n.314-2043G=) c.320G= (p.Cys107=) c.314-1216G= (n.314-1216G=) c.43G= n.593G= n.560G=
19	g.11105349G>T	CA404076476	LDLR	c.701G>T (p.Cys234Phe) c.443G>T (p.Cys148Phe) c.697G>T c.314-2043G>T (n.314-2043G>T) c.320G>T (p.Cys107Phe) c.314-1216G>T (n.314-1216G>T) c.43G>T n.593G>T n.560G>T
19	g.11105350T>A	CA404076478	LDLR	c.702T>A (p.Cys234Ter) c.444T>A (p.Cys148Ter) c.698T>A c.314-2042T>A (n.314-2042T>A) c.321T>A (p.Cys107Ter) c.314-1215T>A (n.314-1215T>A) c.44T>A n.594T>A n.561T>A
19	g.11105350T>C	CA505743084	LDLR	c.702T>C (p.Cys234=) c.444T>C (p.Cys148=) c.698T>C c.314-2042T>C (n.314-2042T>C) c.321T>C (p.Cys107=) c.314-1215T>C (n.314-1215T>C) c.44T>C n.594T>C n.561T>C
19	g.11105350T>G	CA10584923	LDLR	c.702T>G (p.Cys234Trp) c.444T>G (p.Cys148Trp) c.698T>G c.314-2042T>G (n.314-2042T>G) c.321T>G (p.Cys107Trp) c.314-1215T>G (n.314-1215T>G) c.44T>G n.594T>G n.561T>G	ClinVar dbSNP
19	g.11105350T=	CA2322767390	LDLR	c.702T= (p.Cys234=) c.444T= (p.Cys148=) c.698T= c.314-2042T= (n.314-2042T=) c.321T= (p.Cys107=) c.314-1215T= (n.314-1215T=) c.44T= n.594T= n.561T=
19	g.11105351G>A	CA404076480	LDLR	c.703G>A (p.Gly235Ser) c.445G>A (p.Gly149Ser) c.699G>A c.314-2041G>A (n.314-2041G>A) c.322G>A (p.Gly108Ser) c.314-1214G>A (n.314-1214G>A) c.45G>A n.595G>A n.562G>A
19	g.11105351G>C	CA404076482	LDLR	c.703G>C (p.Gly235Arg) c.445G>C (p.Gly149Arg) c.699G>C c.314-2041G>C (n.314-2041G>C) c.322G>C (p.Gly108Arg) c.314-1214G>C (n.314-1214G>C) c.45G>C n.595G>C n.562G>C	ClinVar dbSNP
19	g.11105351G=	CA2322767391	LDLR	c.703G= (p.Gly235=) c.445G= (p.Gly149=) c.699G= c.314-2041G= (n.314-2041G=) c.322G= (p.Gly108=) c.314-1214G= (n.314-1214G=) c.45G= n.595G= n.562G=
19	g.11105351G>T	CA10584924	LDLR	c.703G>T (p.Gly235Cys) c.445G>T (p.Gly149Cys) c.699G>T c.314-2041G>T (n.314-2041G>T) c.322G>T (p.Gly108Cys) c.314-1214G>T (n.314-1214G>T) c.45G>T n.595G>T n.562G>T	ClinVar dbSNP gnomAD v4
19	g.11105352_11110660del	CA915941069	LDLR	c.704_1207del c.446_949del c.446_941-854del c.700_1203del c.314-2040_445del c.323_826del c.314-1213_568del c.46_541-854del n.596_1099del n.563_1066del
19	g.11105352G>A	CA404076484	LDLR	c.704G>A (p.Gly235Asp) c.446G>A (p.Gly149Asp) c.700G>A c.314-2040G>A (n.314-2040G>A) c.323G>A (p.Gly108Asp) c.314-1213G>A (n.314-1213G>A) c.46G>A n.596G>A n.563G>A
19	g.11105352G>C	CA404076486	LDLR	c.704G>C (p.Gly235Ala) c.446G>C (p.Gly149Ala) c.700G>C c.314-2040G>C (n.314-2040G>C) c.323G>C (p.Gly108Ala) c.314-1213G>C (n.314-1213G>C) c.46G>C n.596G>C n.563G>C
19	g.11105352G>T	CA404076485	LDLR	c.704G>T (p.Gly235Val) c.446G>T (p.Gly149Val) c.700G>T c.314-2040G>T (n.314-2040G>T) c.323G>T (p.Gly108Val) c.314-1213G>T (n.314-1213G>T) c.46G>T n.596G>T n.563G>T
19	g.11105353T>A	CA505743090	LDLR	c.705T>A (p.Gly235=) c.447T>A (p.Gly149=) c.701T>A c.314-2039T>A (n.314-2039T>A) c.324T>A (p.Gly108=) c.314-1212T>A (n.314-1212T>A) c.47T>A n.597T>A n.564T>A
19	g.11105353T>C	CA043616	LDLR	c.705T>C (p.Gly235=) c.447T>C (p.Gly149=) c.701T>C c.314-2039T>C (n.314-2039T>C) c.324T>C (p.Gly108=) c.314-1212T>C (n.314-1212T>C) c.47T>C n.597T>C n.564T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.11105353T>G	CA505743091	LDLR	c.705T>G (p.Gly235=) c.447T>G (p.Gly149=) c.701T>G c.314-2039T>G (n.314-2039T>G) c.324T>G (p.Gly108=) c.314-1212T>G (n.314-1212T>G) c.47T>G n.597T>G n.564T>G
19	g.11105353T=	CA2322767392	LDLR	c.705T= (p.Gly235=) c.447T= (p.Gly149=) c.701T= c.314-2039T= (n.314-2039T=) c.324T= (p.Gly108=) c.314-1212T= (n.314-1212T=) c.47T= n.597T= n.564T=
19	g.11105354C>A	CA404076488	LDLR	c.706C>A (p.Pro236Thr) c.448C>A (p.Pro150Thr) c.702C>A c.314-2038C>A (n.314-2038C>A) c.325C>A (p.Pro109Thr) c.314-1211C>A (n.314-1211C>A) c.48C>A n.598C>A n.565C>A
19	g.11105354C>G	CA404076490	LDLR	c.706C>G (p.Pro236Ala) c.448C>G (p.Pro150Ala) c.702C>G c.314-2038C>G (n.314-2038C>G) c.325C>G (p.Pro109Ala) c.314-1211C>G (n.314-1211C>G) c.48C>G n.598C>G n.565C>G
19	g.11105354C>T	CA404076492	LDLR	c.706C>T (p.Pro236Ser) c.448C>T (p.Pro150Ser) c.702C>T c.314-2038C>T (n.314-2038C>T) c.325C>T (p.Pro109Ser) c.314-1211C>T (n.314-1211C>T) c.48C>T n.598C>T n.565C>T	COSMIC
19	g.11105356dup	CA10584925	LDLR	c.708dup (p.Ala237ArgfsTer29) c.450dup (p.Ala151ArgfsTer29) c.704dup c.314-2036dup (n.314-2036dup) c.327dup (p.Ala110ArgfsTer29) c.314-1209dup (n.314-1209dup) c.50dup n.600dup n.567dup	ClinVar dbSNP
19	g.11105354_11105357delinsCCCG	CA2322767393	LDLR	c.706_709delinsCCCG (p.Pro236=) c.448_451delinsCCCG (p.Pro150=) c.702_705delinsCCCG c.314-2038_314-2035delinsCCCG (n.314-2038_314-2035delinsCCCG) c.325_328delinsCCCG (p.Pro109=) c.314-1211_314-1208delinsCCCG (n.314-1211_314-1208delinsCCCG) c.48_51delinsCCCG n.598_601delinsCCCG n.565_568delinsCCCG
19	g.11105355C>A	CA404076494	LDLR	c.707C>A (p.Pro236His) c.449C>A (p.Pro150His) c.703C>A c.314-2037C>A (n.314-2037C>A) c.326C>A (p.Pro109His) c.314-1210C>A (n.314-1210C>A) c.49C>A n.599C>A n.566C>A	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.11105355C=	CA2322767394	LDLR	c.707C= (p.Pro236=) c.449C= (p.Pro150=) c.703C= c.314-2037C= (n.314-2037C=) c.326C= (p.Pro109=) c.314-1210C= (n.314-1210C=) c.49C= n.599C= n.566C=
19	g.11105355C>G	CA404076499	LDLR	c.707C>G (p.Pro236Arg) c.449C>G (p.Pro150Arg) c.703C>G c.314-2037C>G (n.314-2037C>G) c.326C>G (p.Pro109Arg) c.314-1210C>G (n.314-1210C>G) c.49C>G n.599C>G n.566C>G
19	g.11105355C>T	CA404076497	LDLR	c.707C>T (p.Pro236Leu) c.449C>T (p.Pro150Leu) c.703C>T c.314-2037C>T (n.314-2037C>T) c.326C>T (p.Pro109Leu) c.314-1210C>T (n.314-1210C>T) c.49C>T n.599C>T n.566C>T
19	g.11105357_11105359del	CA10584927	LDLR	c.709_711del (p.Ala237del) c.451_453del (p.Ala151del) c.705_707del c.314-2035_314-2033del (n.314-2035_314-2033del) c.328_330del (p.Ala110del) c.314-1208_314-1206del (n.314-1208_314-1206del) c.51_53del n.601_603del n.568_570del	ClinVar dbSNP
19	g.11105356C>A	CA505743099	LDLR	c.708C>A (p.Pro236=) c.450C>A (p.Pro150=) c.704C>A c.314-2036C>A (n.314-2036C>A) c.327C>A (p.Pro109=) c.314-1209C>A (n.314-1209C>A) c.50C>A n.600C>A n.567C>A
19	g.11105356C=	CA2322767395	LDLR	c.708C= (p.Pro236=) c.450C= (p.Pro150=) c.704C= c.314-2036C= (n.314-2036C=) c.327C= (p.Pro109=) c.314-1209C= (n.314-1209C=) c.50C= n.600C= n.567C=
19	g.11105356C>G	CA505743100	LDLR	c.708C>G (p.Pro236=) c.450C>G (p.Pro150=) c.704C>G c.314-2036C>G (n.314-2036C>G) c.327C>G (p.Pro109=) c.314-1209C>G (n.314-1209C>G) c.50C>G n.600C>G n.567C>G
19	g.11105356C>T	CA043626	LDLR	c.708C>T (p.Pro236=) c.450C>T (p.Pro150=) c.704C>T c.314-2036C>T (n.314-2036C>T) c.327C>T (p.Pro109=) c.314-1209C>T (n.314-1209C>T) c.50C>T n.600C>T n.567C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.11105357G>A	CA10584926	LDLR	c.709G>A (p.Ala237Thr) c.451G>A (p.Ala151Thr) c.705G>A c.314-2035G>A (n.314-2035G>A) c.328G>A (p.Ala110Thr) c.314-1208G>A (n.314-1208G>A) c.51G>A n.601G>A n.568G>A	ClinVar dbSNP gnomAD v4
19	g.11105357G>C	CA043633	LDLR	c.709G>C (p.Ala237Pro) c.451G>C (p.Ala151Pro) c.705G>C c.314-2035G>C (n.314-2035G>C) c.328G>C (p.Ala110Pro) c.314-1208G>C (n.314-1208G>C) c.51G>C n.601G>C n.568G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.11105357G=	CA2322767396	LDLR	c.709G= (p.Ala237=) c.451G= (p.Ala151=) c.705G= c.314-2035G= (n.314-2035G=) c.328G= (p.Ala110=) c.314-1208G= (n.314-1208G=) c.51G= n.601G= n.568G=
19	g.11105357G>T	CA404076505	LDLR	c.709G>T (p.Ala237Ser) c.451G>T (p.Ala151Ser) c.705G>T c.314-2035G>T (n.314-2035G>T) c.328G>T (p.Ala110Ser) c.314-1208G>T (n.314-1208G>T) c.51G>T n.601G>T n.568G>T	ClinVar gnomAD v4
19	g.11105358C>A	CA404076507	LDLR	c.710C>A (p.Ala237Asp) c.452C>A (p.Ala151Asp) c.706C>A c.314-2034C>A (n.314-2034C>A) c.329C>A (p.Ala110Asp) c.314-1207C>A (n.314-1207C>A) c.52C>A n.602C>A n.569C>A
19	g.11105358C>G	CA404076509	LDLR	c.710C>G (p.Ala237Gly) c.452C>G (p.Ala151Gly) c.706C>G c.314-2034C>G (n.314-2034C>G) c.329C>G (p.Ala110Gly) c.314-1207C>G (n.314-1207C>G) c.52C>G n.602C>G n.569C>G
19	g.11105358C>T	CA404076511	LDLR	c.710C>T (p.Ala237Val) c.452C>T (p.Ala151Val) c.706C>T c.314-2034C>T (n.314-2034C>T) c.329C>T (p.Ala110Val) c.314-1207C>T (n.314-1207C>T) c.52C>T n.602C>T n.569C>T
19	g.11105359C>A	CA505743107	LDLR	c.711C>A (p.Ala237=) c.453C>A (p.Ala151=) c.707C>A c.314-2033C>A (n.314-2033C>A) c.330C>A (p.Ala110=) c.314-1206C>A (n.314-1206C>A) c.53C>A n.603C>A n.570C>A
19	g.11105359C>G	CA505743106	LDLR	c.711C>G (p.Ala237=) c.453C>G (p.Ala151=) c.707C>G c.314-2033C>G (n.314-2033C>G) c.330C>G (p.Ala110=) c.314-1206C>G (n.314-1206C>G) c.53C>G n.603C>G n.570C>G
19	g.11105359C>T	CA505743105	LDLR	c.711C>T (p.Ala237=) c.453C>T (p.Ala151=) c.707C>T c.314-2033C>T (n.314-2033C>T) c.330C>T (p.Ala110=) c.314-1206C>T (n.314-1206C>T) c.53C>T n.603C>T n.570C>T	ClinVar dbSNP gnomAD v4
19	g.11105360A>C	CA404076513	LDLR	c.712A>C (p.Ser238Arg) c.454A>C (p.Ser152Arg) c.708A>C c.314-2032A>C (n.314-2032A>C) c.331A>C (p.Ser111Arg) c.314-1205A>C (n.314-1205A>C) c.54A>C n.604A>C n.571A>C
19	g.11105360A>G	CA404076515	LDLR	c.712A>G (p.Ser238Gly) c.454A>G (p.Ser152Gly) c.708A>G c.314-2032A>G (n.314-2032A>G) c.331A>G (p.Ser111Gly) c.314-1205A>G (n.314-1205A>G) c.54A>G n.604A>G n.571A>G	ClinVar
19	g.11105360A>T	CA404076516	LDLR	c.712A>T (p.Ser238Cys) c.454A>T (p.Ser152Cys) c.708A>T c.314-2032A>T (n.314-2032A>T) c.331A>T (p.Ser111Cys) c.314-1205A>T (n.314-1205A>T) c.54A>T n.604A>T n.571A>T
19	g.11105360dup	CA2695195460	LDLR	c.712dup (p.Ser238LysfsTer28) c.454dup (p.Ser152LysfsTer28) c.708dup c.314-2032dup (n.314-2032dup) c.331dup (p.Ser111LysfsTer28) c.314-1205dup (n.314-1205dup) c.54dup n.604dup n.571dup
19	g.11105361del	CA2573050572	LDLR	c.713del (p.Ser238ThrfsTer?) c.455del (p.Ser152ThrfsTer?) c.709del c.314-2031del (n.314-2031del) c.332del (p.Ser111ThrfsTer?) c.314-1204del (n.314-1204del) c.55del n.605del n.572del
19	g.11105361G>A	CA404076518	LDLR	c.713G>A (p.Ser238Asn) c.455G>A (p.Ser152Asn) c.709G>A c.314-2031G>A (n.314-2031G>A) c.332G>A (p.Ser111Asn) c.314-1204G>A (n.314-1204G>A) c.55G>A n.605G>A n.572G>A
19	g.11105361G>C	CA404076523	LDLR	c.713G>C (p.Ser238Thr) c.455G>C (p.Ser152Thr) c.709G>C c.314-2031G>C (n.314-2031G>C) c.332G>C (p.Ser111Thr) c.314-1204G>C (n.314-1204G>C) c.55G>C n.605G>C n.572G>C	gnomAD v4
19	g.11105361G>T	CA404076520	LDLR	c.713G>T (p.Ser238Ile) c.455G>T (p.Ser152Ile) c.709G>T c.314-2031G>T (n.314-2031G>T) c.332G>T (p.Ser111Ile) c.314-1204G>T (n.314-1204G>T) c.55G>T n.605G>T n.572G>T
19	g.11105363_11105371del	CA2695223200	LDLR	c.715_723del (p.Phe239_Cys241del) c.457_465del (p.Phe153_Cys155del) c.711_719del c.314-2029_314-2021del (n.314-2029_314-2021del) c.334_342del (p.Phe112_Cys114del) c.314-1202_314-1194del (n.314-1202_314-1194del) c.57_65del n.607_615del n.574_582del
19	g.11105362C>A	CA404076530	LDLR	c.714C>A (p.Ser238Arg) c.456C>A (p.Ser152Arg) c.710C>A c.314-2030C>A (n.314-2030C>A) c.333C>A (p.Ser111Arg) c.314-1203C>A (n.314-1203C>A) c.56C>A n.606C>A n.573C>A
19	g.11105362C=	CA2322767397	LDLR	c.714C= (p.Ser238=) c.456C= (p.Ser152=) c.710C= c.314-2030C= (n.314-2030C=) c.333C= (p.Ser111=) c.314-1203C= (n.314-1203C=) c.56C= n.606C= n.573C=
19	g.11105362C>G	CA404076532	LDLR	c.714C>G (p.Ser238Arg) c.456C>G (p.Ser152Arg) c.710C>G c.314-2030C>G (n.314-2030C>G) c.333C>G (p.Ser111Arg) c.314-1203C>G (n.314-1203C>G) c.56C>G n.606C>G n.573C>G
19	g.11105362C>T	CA505743112	LDLR	c.714C>T (p.Ser238=) c.456C>T (p.Ser152=) c.710C>T c.314-2030C>T (n.314-2030C>T) c.333C>T (p.Ser111=) c.314-1203C>T (n.314-1203C>T) c.56C>T n.606C>T n.573C>T	dbSNP
19	g.11105363T>A	CA404076536	LDLR	c.715T>A (p.Phe239Ile) c.457T>A (p.Phe153Ile) c.711T>A c.314-2029T>A (n.314-2029T>A) c.334T>A (p.Phe112Ile) c.314-1202T>A (n.314-1202T>A) c.57T>A n.607T>A n.574T>A
19	g.11105363T>C	CA404076539	LDLR	c.715T>C (p.Phe239Leu) c.457T>C (p.Phe153Leu) c.711T>C c.314-2029T>C (n.314-2029T>C) c.334T>C (p.Phe112Leu) c.314-1202T>C (n.314-1202T>C) c.57T>C n.607T>C n.574T>C	gnomAD v4
19	g.11105363T>G	CA10584928	LDLR	c.715T>G (p.Phe239Val) c.457T>G (p.Phe153Val) c.711T>G c.314-2029T>G (n.314-2029T>G) c.334T>G (p.Phe112Val) c.314-1202T>G (n.314-1202T>G) c.57T>G n.607T>G n.574T>G	ClinVar dbSNP
19	g.11105363T=	CA2322767398	LDLR	c.715T= (p.Phe239=) c.457T= (p.Phe153=) c.711T= c.314-2029T= (n.314-2029T=) c.334T= (p.Phe112=) c.314-1202T= (n.314-1202T=) c.57T= n.607T= n.574T=
19	g.11105364T>A	CA404076545	LDLR	c.716T>A (p.Phe239Tyr) c.458T>A (p.Phe153Tyr) c.712T>A c.314-2028T>A (n.314-2028T>A) c.335T>A (p.Phe112Tyr) c.314-1201T>A (n.314-1201T>A) c.58T>A n.608T>A n.575T>A
19	g.11105364T>C	CA404076548	LDLR	c.716T>C (p.Phe239Ser) c.458T>C (p.Phe153Ser) c.712T>C c.314-2028T>C (n.314-2028T>C) c.335T>C (p.Phe112Ser) c.314-1201T>C (n.314-1201T>C) c.58T>C n.608T>C n.575T>C
19	g.11105364T>G	CA10584929	LDLR	c.716T>G (p.Phe239Cys) c.458T>G (p.Phe153Cys) c.712T>G c.314-2028T>G (n.314-2028T>G) c.335T>G (p.Phe112Cys) c.314-1201T>G (n.314-1201T>G) c.58T>G n.608T>G n.575T>G	ClinVar dbSNP
19	g.11105364T=	CA2322767399	LDLR	c.716T= (p.Phe239=) c.458T= (p.Phe153=) c.712T= c.314-2028T= (n.314-2028T=) c.335T= (p.Phe112=) c.314-1201T= (n.314-1201T=) c.58T= n.608T= n.575T=
19	g.11105364_11105365delinsTC	CA2322767400	LDLR	c.716_717delinsTC (p.Phe239=) c.458_459delinsTC (p.Phe153=) c.712_713delinsTC c.314-2028_314-2027delinsTC (n.314-2028_314-2027delinsTC) c.335_336delinsTC (p.Phe112=) c.314-1201_314-1200delinsTC (n.314-1201_314-1200delinsTC) c.58_59delinsTC n.608_609delinsTC n.575_576delinsTC
19	g.11105365C>A	CA404076551	LDLR	c.717C>A (p.Phe239Leu) c.459C>A (p.Phe153Leu) c.713C>A c.314-2027C>A (n.314-2027C>A) c.336C>A (p.Phe112Leu) c.314-1200C>A (n.314-1200C>A) c.59C>A n.609C>A n.576C>A
19	g.11105365C>G	CA404076555	LDLR	c.717C>G (p.Phe239Leu) c.459C>G (p.Phe153Leu) c.713C>G c.314-2027C>G (n.314-2027C>G) c.336C>G (p.Phe112Leu) c.314-1200C>G (n.314-1200C>G) c.59C>G n.609C>G n.576C>G
19	g.11105365C>T	CA505743119	LDLR	c.717C>T (p.Phe239=) c.459C>T (p.Phe153=) c.713C>T c.314-2027C>T (n.314-2027C>T) c.336C>T (p.Phe112=) c.314-1200C>T (n.314-1200C>T) c.59C>T n.609C>T n.576C>T
19	g.11105366del	CA645294118	LDLR	c.718del (p.Gln240SerfsTer?) c.460del (p.Gln154SerfsTer?) c.714del c.314-2026del (n.314-2026del) c.337del (p.Gln113SerfsTer?) c.314-1199del (n.314-1199del) c.60del n.610del n.577del	ClinVar dbSNP
19	g.11105366C>A	CA404076558	LDLR	c.718C>A (p.Gln240Lys) c.460C>A (p.Gln154Lys) c.714C>A c.314-2026C>A (n.314-2026C>A) c.337C>A (p.Gln113Lys) c.314-1199C>A (n.314-1199C>A) c.60C>A n.610C>A n.577C>A	COSMIC
19	g.11105366C=	CA2322767401	LDLR	c.718C= (p.Gln240=) c.460C= (p.Gln154=) c.714C= c.314-2026C= (n.314-2026C=) c.337C= (p.Gln113=) c.314-1199C= (n.314-1199C=) c.60C= n.610C= n.577C=
19	g.11105366C>G	CA404076561	LDLR	c.718C>G (p.Gln240Glu) c.460C>G (p.Gln154Glu) c.714C>G c.314-2026C>G (n.314-2026C>G) c.337C>G (p.Gln113Glu) c.314-1199C>G (n.314-1199C>G) c.60C>G n.610C>G n.577C>G
19	g.11105366C>T	CA10584930	LDLR	c.718C>T (p.Gln240Ter) c.460C>T (p.Gln154Ter) c.714C>T c.314-2026C>T (n.314-2026C>T) c.337C>T (p.Gln113Ter) c.314-1199C>T (n.314-1199C>T) c.60C>T n.610C>T n.577C>T	ClinVar dbSNP
19	g.11105367A>C	CA404076565	LDLR	c.719A>C (p.Gln240Pro) c.461A>C (p.Gln154Pro) c.715A>C c.314-2025A>C (n.314-2025A>C) c.338A>C (p.Gln113Pro) c.314-1198A>C (n.314-1198A>C) c.61A>C n.611A>C n.578A>C
19	g.11105367A>G	CA404076569	LDLR	c.719A>G (p.Gln240Arg) c.461A>G (p.Gln154Arg) c.715A>G c.314-2025A>G (n.314-2025A>G) c.338A>G (p.Gln113Arg) c.314-1198A>G (n.314-1198A>G) c.61A>G n.611A>G n.578A>G
19	g.11105367A>T	CA404076567	LDLR	c.719A>T (p.Gln240Leu) c.461A>T (p.Gln154Leu) c.715A>T c.314-2025A>T (n.314-2025A>T) c.338A>T (p.Gln113Leu) c.314-1198A>T (n.314-1198A>T) c.61A>T n.611A>T n.578A>T
19	g.11105368G>A	CA505743126	LDLR	c.720G>A (p.Gln240=) c.462G>A (p.Gln154=) c.716G>A c.314-2024G>A (n.314-2024G>A) c.339G>A (p.Gln113=) c.314-1197G>A (n.314-1197G>A) c.62G>A n.612G>A n.579G>A	ClinVar dbSNP
19	g.11105368G>C	CA404076573	LDLR	c.720G>C (p.Gln240His) c.462G>C (p.Gln154His) c.716G>C c.314-2024G>C (n.314-2024G>C) c.339G>C (p.Gln113His) c.314-1197G>C (n.314-1197G>C) c.62G>C n.612G>C n.579G>C	ClinVar dbSNP gnomAD v4
19	g.11105368G=	CA2322767402	LDLR	c.720G= (p.Gln240=) c.462G= (p.Gln154=) c.716G= c.314-2024G= (n.314-2024G=) c.339G= (p.Gln113=) c.314-1197G= (n.314-1197G=) c.62G= n.612G= n.579G=
19	g.11105368G>T	CA404076575	LDLR	c.720G>T (p.Gln240His) c.462G>T (p.Gln154His) c.716G>T c.314-2024G>T (n.314-2024G>T) c.339G>T (p.Gln113His) c.314-1197G>T (n.314-1197G>T) c.62G>T n.612G>T n.579G>T
19	g.11105369T>A	CA404076578	LDLR	c.721T>A (p.Cys241Ser) c.463T>A (p.Cys155Ser) c.717T>A c.314-2023T>A (n.314-2023T>A) c.340T>A (p.Cys114Ser) c.314-1196T>A (n.314-1196T>A) c.63T>A n.613T>A n.580T>A	ClinVar dbSNP
19	g.11105369T>C	CA10584931	LDLR	c.721T>C (p.Cys241Arg) c.463T>C (p.Cys155Arg) c.717T>C c.314-2023T>C (n.314-2023T>C) c.340T>C (p.Cys114Arg) c.314-1196T>C (n.314-1196T>C) c.63T>C n.613T>C n.580T>C	ClinVar dbSNP
19	g.11105369T>G	CA10584932	LDLR	c.721T>G (p.Cys241Gly) c.463T>G (p.Cys155Gly) c.717T>G c.314-2023T>G (n.314-2023T>G) c.340T>G (p.Cys114Gly) c.314-1196T>G (n.314-1196T>G) c.63T>G n.613T>G n.580T>G	ClinVar dbSNP
19	g.11105369T=	CA2322767403	LDLR	c.721T= (p.Cys241=) c.463T= (p.Cys155=) c.717T= c.314-2023T= (n.314-2023T=) c.340T= (p.Cys114=) c.314-1196T= (n.314-1196T=) c.63T= n.613T= n.580T=
19	g.11105370G>A	CA10584933	LDLR	c.722G>A (p.Cys241Tyr) c.464G>A (p.Cys155Tyr) c.718G>A c.314-2022G>A (n.314-2022G>A) c.341G>A (p.Cys114Tyr) c.314-1195G>A (n.314-1195G>A) c.64G>A n.614G>A n.581G>A	ClinVar dbSNP
19	g.11105370G>C	CA404076587	LDLR	c.722G>C (p.Cys241Ser) c.464G>C (p.Cys155Ser) c.718G>C c.314-2022G>C (n.314-2022G>C) c.341G>C (p.Cys114Ser) c.314-1195G>C (n.314-1195G>C) c.64G>C n.614G>C n.581G>C
19	g.11105370G=	CA2322767404	LDLR	c.722G= (p.Cys241=) c.464G= (p.Cys155=) c.718G= c.314-2022G= (n.314-2022G=) c.341G= (p.Cys114=) c.314-1195G= (n.314-1195G=) c.64G= n.614G= n.581G=
19	g.11105370G>T	CA10584934	LDLR	c.722G>T (p.Cys241Phe) c.464G>T (p.Cys155Phe) c.718G>T c.314-2022G>T (n.314-2022G>T) c.341G>T (p.Cys114Phe) c.314-1195G>T (n.314-1195G>T) c.64G>T n.614G>T n.581G>T	ClinVar dbSNP
19	g.11105372_11105377del	CA2580096441	LDLR	c.724_729del (p.Asn242_Ser243del) c.466_471del (p.Asn156_Ser157del) c.720_725del c.314-2020_314-2015del (n.314-2020_314-2015del) c.343_348del (p.Asn115_Ser116del) c.314-1193_314-1188del (n.314-1193_314-1188del) c.66_71del n.616_621del n.583_588del	ClinVar
19	g.11105371C>A	CA043661	LDLR	c.723C>A (p.Cys241Ter) c.465C>A (p.Cys155Ter) c.719C>A c.314-2021C>A (n.314-2021C>A) c.342C>A (p.Cys114Ter) c.314-1194C>A (n.314-1194C>A) c.65C>A n.615C>A n.582C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11105371C=	CA2322767405	LDLR	c.723C= (p.Cys241=) c.465C= (p.Cys155=) c.719C= c.314-2021C= (n.314-2021C=) c.342C= (p.Cys114=) c.314-1194C= (n.314-1194C=) c.65C= n.615C= n.582C=
19	g.11105371C>G	CA404076603	LDLR	c.723C>G (p.Cys241Trp) c.465C>G (p.Cys155Trp) c.719C>G c.314-2021C>G (n.314-2021C>G) c.342C>G (p.Cys114Trp) c.314-1194C>G (n.314-1194C>G) c.65C>G n.615C>G n.582C>G
19	g.11105371C>T	CA505743132	LDLR	c.723C>T (p.Cys241=) c.465C>T (p.Cys155=) c.719C>T c.314-2021C>T (n.314-2021C>T) c.342C>T (p.Cys114=) c.314-1194C>T (n.314-1194C>T) c.65C>T n.615C>T n.582C>T
19	g.11105371_11105372delinsCA	CA2322767406	LDLR	c.723_724delinsCA (p.Cys241=) c.465_466delinsCA (p.Cys155=) c.719_720delinsCA c.314-2021_314-2020delinsCA (n.314-2021_314-2020delinsCA) c.342_343delinsCA (p.Cys114=) c.314-1194_314-1193delinsCA (n.314-1194_314-1193delinsCA) c.65_66delinsCA n.615_616delinsCA n.582_583delinsCA
19	g.11105372_11105390dup	CA10584935	LDLR	c.724_742dup (p.Pro248GlnfsTer24) c.466_484dup (p.Pro162GlnfsTer24) c.720_738dup c.314-2020_314-2002dup (n.314-2020_314-2002dup) c.343_361dup (p.Pro121GlnfsTer24) c.314-1193_314-1175dup (n.314-1193_314-1175dup) c.66_84dup n.616_634dup n.583_601dup	ClinVar dbSNP
19	g.11105372A>C	CA404076613	LDLR	c.724A>C (p.Asn242His) c.466A>C (p.Asn156His) c.720A>C c.314-2020A>C (n.314-2020A>C) c.343A>C (p.Asn115His) c.314-1193A>C (n.314-1193A>C) c.66A>C n.616A>C n.583A>C
19	g.11105372A>G	CA404076612	LDLR	c.724A>G (p.Asn242Asp) c.466A>G (p.Asn156Asp) c.720A>G c.314-2020A>G (n.314-2020A>G) c.343A>G (p.Asn115Asp) c.314-1193A>G (n.314-1193A>G) c.66A>G n.616A>G n.583A>G
19	g.11105372A>T	CA404076617	LDLR	c.724A>T (p.Asn242Tyr) c.466A>T (p.Asn156Tyr) c.720A>T c.314-2020A>T (n.314-2020A>T) c.343A>T (p.Asn115Tyr) c.314-1193A>T (n.314-1193A>T) c.66A>T n.616A>T n.583A>T
19	g.11105373del	CA10654845	LDLR	c.725del (p.Asn242ThrfsTer?) c.467del (p.Asn156ThrfsTer?) c.721del c.314-2019del (n.314-2019del) c.344del (p.Asn115ThrfsTer?) c.314-1192del (n.314-1192del) c.67del n.617del n.584del	ClinVar dbSNP
19	g.11105372_11105374delinsGA	CA2497030117	LDLR	c.724_726delinsGA (p.Asn242GlufsTer?) c.466_468delinsGA (p.Asn156GlufsTer?) c.720_722delinsGA c.314-2020_314-2018delinsGA (n.314-2020_314-2018delinsGA) c.343_345delinsGA (p.Asn115GlufsTer?) c.314-1193_314-1191delinsGA (n.314-1193_314-1191delinsGA) c.66_68delinsGA n.616_618delinsGA n.583_585delinsGA
19	g.11105373A>C	CA404076620	LDLR	c.725A>C (p.Asn242Thr) c.467A>C (p.Asn156Thr) c.721A>C c.314-2019A>C (n.314-2019A>C) c.344A>C (p.Asn115Thr) c.314-1192A>C (n.314-1192A>C) c.67A>C n.617A>C n.584A>C
19	g.11105373A>G	CA404076624	LDLR	c.725A>G (p.Asn242Ser) c.467A>G (p.Asn156Ser) c.721A>G c.314-2019A>G (n.314-2019A>G) c.344A>G (p.Asn115Ser) c.314-1192A>G (n.314-1192A>G) c.67A>G n.617A>G n.584A>G
19	g.11105373A>T	CA404076627	LDLR	c.725A>T (p.Asn242Ile) c.467A>T (p.Asn156Ile) c.721A>T c.314-2019A>T (n.314-2019A>T) c.344A>T (p.Asn115Ile) c.314-1192A>T (n.314-1192A>T) c.67A>T n.617A>T n.584A>T
19	g.11105374C>A	CA404076630	LDLR	c.726C>A (p.Asn242Lys) c.468C>A (p.Asn156Lys) c.722C>A c.314-2018C>A (n.314-2018C>A) c.345C>A (p.Asn115Lys) c.314-1191C>A (n.314-1191C>A) c.68C>A n.618C>A n.585C>A
19	g.11105374C=	CA2322767407	LDLR	c.726C= (p.Asn242=) c.468C= (p.Asn156=) c.722C= c.314-2018C= (n.314-2018C=) c.345C= (p.Asn115=) c.314-1191C= (n.314-1191C=) c.68C= n.618C= n.585C=
19	g.11105374C>G	CA404076631	LDLR	c.726C>G (p.Asn242Lys) c.468C>G (p.Asn156Lys) c.722C>G c.314-2018C>G (n.314-2018C>G) c.345C>G (p.Asn115Lys) c.314-1191C>G (n.314-1191C>G) c.68C>G n.618C>G n.585C>G
19	g.11105374C>T	CA505743139	LDLR	c.726C>T (p.Asn242=) c.468C>T (p.Asn156=) c.722C>T c.314-2018C>T (n.314-2018C>T) c.345C>T (p.Asn115=) c.314-1191C>T (n.314-1191C>T) c.68C>T n.618C>T n.585C>T
19	g.11105375A>C	CA404076636	LDLR	c.727A>C (p.Ser243Arg) c.469A>C (p.Ser157Arg) c.723A>C c.314-2017A>C (n.314-2017A>C) c.346A>C (p.Ser116Arg) c.314-1190A>C (n.314-1190A>C) c.69A>C n.619A>C n.586A>C
19	g.11105375A>G	CA404076632	LDLR	c.727A>G (p.Ser243Gly) c.469A>G (p.Ser157Gly) c.723A>G c.314-2017A>G (n.314-2017A>G) c.346A>G (p.Ser116Gly) c.314-1190A>G (n.314-1190A>G) c.69A>G n.619A>G n.586A>G
19	g.11105375A>T	CA404076634	LDLR	c.727A>T (p.Ser243Cys) c.469A>T (p.Ser157Cys) c.723A>T c.314-2017A>T (n.314-2017A>T) c.346A>T (p.Ser116Cys) c.314-1190A>T (n.314-1190A>T) c.69A>T n.619A>T n.586A>T
19	g.11105375_11105376dup	CA916081227	LDLR	c.727_728dup (p.Ser243ArgfsTer?) c.469_470dup (p.Ser157ArgfsTer?) c.723_724dup c.314-2017_314-2016dup (n.314-2017_314-2016dup) c.346_347dup (p.Ser116ArgfsTer?) c.314-1190_314-1189dup (n.314-1190_314-1189dup) c.69_70dup n.619_620dup n.586_587dup	ClinVar dbSNP
19	g.11105376G>A	CA404076641	LDLR	c.728G>A (p.Ser243Asn) c.470G>A (p.Ser157Asn) c.724G>A c.314-2016G>A (n.314-2016G>A) c.347G>A (p.Ser116Asn) c.314-1189G>A (n.314-1189G>A) c.70G>A n.620G>A n.587G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.11105376G>C	CA404076643	LDLR	c.728G>C (p.Ser243Thr) c.470G>C (p.Ser157Thr) c.724G>C c.314-2016G>C (n.314-2016G>C) c.347G>C (p.Ser116Thr) c.314-1189G>C (n.314-1189G>C) c.70G>C n.620G>C n.587G>C
19	g.11105376G=	CA2322767408	LDLR	c.728G= (p.Ser243=) c.470G= (p.Ser157=) c.724G= c.314-2016G= (n.314-2016G=) c.347G= (p.Ser116=) c.314-1189G= (n.314-1189G=) c.70G= n.620G= n.587G=
19	g.11105376G>T	CA404076645	LDLR	c.728G>T (p.Ser243Ile) c.470G>T (p.Ser157Ile) c.724G>T c.314-2016G>T (n.314-2016G>T) c.347G>T (p.Ser116Ile) c.314-1189G>T (n.314-1189G>T) c.70G>T n.620G>T n.587G>T
19	g.11105377C>A	CA404076648	LDLR	c.729C>A (p.Ser243Arg) c.471C>A (p.Ser157Arg) c.725C>A c.314-2015C>A (n.314-2015C>A) c.348C>A (p.Ser116Arg) c.314-1188C>A (n.314-1188C>A) c.71C>A n.621C>A n.588C>A
19	g.11105377C>G	CA404076651	LDLR	c.729C>G (p.Ser243Arg) c.471C>G (p.Ser157Arg) c.725C>G c.314-2015C>G (n.314-2015C>G) c.348C>G (p.Ser116Arg) c.314-1188C>G (n.314-1188C>G) c.71C>G n.621C>G n.588C>G
19	g.11105377C>T	CA505743143	LDLR	c.729C>T (p.Ser243=) c.471C>T (p.Ser157=) c.725C>T c.314-2015C>T (n.314-2015C>T) c.348C>T (p.Ser116=) c.314-1188C>T (n.314-1188C>T) c.71C>T n.621C>T n.588C>T
19	g.11105377_11105378delinsCT	CA2322767409	LDLR	c.729_730delinsCT (p.Ser243=) c.471_472delinsCT (p.Ser157=) c.725_726delinsCT c.314-2015_314-2014delinsCT (n.314-2015_314-2014delinsCT) c.348_349delinsCT (p.Ser116=) c.314-1188_314-1187delinsCT (n.314-1188_314-1187delinsCT) c.71_72delinsCT n.621_622delinsCT n.588_589delinsCT
19	g.11105378del	CA10584936	LDLR	c.730del (p.Ser244ProfsTer?) c.472del (p.Ser158ProfsTer?) c.726del c.314-2014del (n.314-2014del) c.349del (p.Ser117ProfsTer?) c.314-1187del (n.314-1187del) c.72del n.622del n.589del	ClinVar dbSNP
19	g.11105378T>A	CA404076663	LDLR	c.730T>A (p.Ser244Thr) c.472T>A (p.Ser158Thr) c.726T>A c.314-2014T>A (n.314-2014T>A) c.349T>A (p.Ser117Thr) c.314-1187T>A (n.314-1187T>A) c.72T>A n.622T>A n.589T>A
19	g.11105378T>C	CA404076656	LDLR	c.730T>C (p.Ser244Pro) c.472T>C (p.Ser158Pro) c.726T>C c.314-2014T>C (n.314-2014T>C) c.349T>C (p.Ser117Pro) c.314-1187T>C (n.314-1187T>C) c.72T>C n.622T>C n.589T>C
19	g.11105378T>G	CA404076660	LDLR	c.730T>G (p.Ser244Ala) c.472T>G (p.Ser158Ala) c.726T>G c.314-2014T>G (n.314-2014T>G) c.349T>G (p.Ser117Ala) c.314-1187T>G (n.314-1187T>G) c.72T>G n.622T>G n.589T>G
19	g.11105379C>A	CA404076667	LDLR	c.731C>A (p.Ser244Tyr) c.473C>A (p.Ser158Tyr) c.727C>A c.314-2013C>A (n.314-2013C>A) c.350C>A (p.Ser117Tyr) c.314-1186C>A (n.314-1186C>A) c.73C>A n.623C>A n.590C>A
19	g.11105379C=	CA2322767410	LDLR	c.731C= (p.Ser244=) c.473C= (p.Ser158=) c.727C= c.314-2013C= (n.314-2013C=) c.350C= (p.Ser117=) c.314-1186C= (n.314-1186C=) c.73C= n.623C= n.590C=
19	g.11105379C>G	CA10584937	LDLR	c.731C>G (p.Ser244Cys) c.473C>G (p.Ser158Cys) c.727C>G c.314-2013C>G (n.314-2013C>G) c.350C>G (p.Ser117Cys) c.314-1186C>G (n.314-1186C>G) c.73C>G n.623C>G n.590C>G	ClinVar dbSNP
19	g.11105379C>T	CA305296813	LDLR	c.731C>T (p.Ser244Phe) c.473C>T (p.Ser158Phe) c.727C>T c.314-2013C>T (n.314-2013C>T) c.350C>T (p.Ser117Phe) c.314-1186C>T (n.314-1186C>T) c.73C>T n.623C>T n.590C>T	dbSNP gnomAD v4
19	g.11105380C>A	CA505743148	LDLR	c.732C>A (p.Ser244=) c.474C>A (p.Ser158=) c.728C>A c.314-2012C>A (n.314-2012C>A) c.351C>A (p.Ser117=) c.314-1185C>A (n.314-1185C>A) c.74C>A n.624C>A n.591C>A
19	g.11105380C>G	CA505743150	LDLR	c.732C>G (p.Ser244=) c.474C>G (p.Ser158=) c.728C>G c.314-2012C>G (n.314-2012C>G) c.351C>G (p.Ser117=) c.314-1185C>G (n.314-1185C>G) c.74C>G n.624C>G n.591C>G
19	g.11105380C>T	CA505743151	LDLR	c.732C>T (p.Ser244=) c.474C>T (p.Ser158=) c.728C>T c.314-2012C>T (n.314-2012C>T) c.351C>T (p.Ser117=) c.314-1185C>T (n.314-1185C>T) c.74C>T n.624C>T n.591C>T	ClinVar dbSNP
19	g.11105381A=	CA2322767411	LDLR	c.733A= (p.Thr245=) c.475A= (p.Thr159=) c.729A= c.314-2011A= (n.314-2011A=) c.352A= (p.Thr118=) c.314-1184A= (n.314-1184A=) c.75A= n.625A= n.592A=
19	g.11105381A>C	CA404076678	LDLR	c.733A>C (p.Thr245Pro) c.475A>C (p.Thr159Pro) c.729A>C c.314-2011A>C (n.314-2011A>C) c.352A>C (p.Thr118Pro) c.314-1184A>C (n.314-1184A>C) c.75A>C n.625A>C n.592A>C
19	g.11105381A>G	CA404076681	LDLR	c.733A>G (p.Thr245Ala) c.475A>G (p.Thr159Ala) c.729A>G c.314-2011A>G (n.314-2011A>G) c.352A>G (p.Thr118Ala) c.314-1184A>G (n.314-1184A>G) c.75A>G n.625A>G n.592A>G
19	g.11105381A>T	CA404076684	LDLR	c.733A>T (p.Thr245Ser) c.475A>T (p.Thr159Ser) c.729A>T c.314-2011A>T (n.314-2011A>T) c.352A>T (p.Thr118Ser) c.314-1184A>T (n.314-1184A>T) c.75A>T n.625A>T n.592A>T	dbSNP
19	g.11105382C>A	CA404076688	LDLR	c.734C>A (p.Thr245Asn) c.476C>A (p.Thr159Asn) c.730C>A c.314-2010C>A (n.314-2010C>A) c.353C>A (p.Thr118Asn) c.314-1183C>A (n.314-1183C>A) c.76C>A n.626C>A n.593C>A	gnomAD v4
19	g.11105382C=	CA2322767412	LDLR	c.734C= (p.Thr245=) c.476C= (p.Thr159=) c.730C= c.314-2010C= (n.314-2010C=) c.353C= (p.Thr118=) c.314-1183C= (n.314-1183C=) c.76C= n.626C= n.593C=
19	g.11105382C>G	CA404076692	LDLR	c.734C>G (p.Thr245Ser) c.476C>G (p.Thr159Ser) c.730C>G c.314-2010C>G (n.314-2010C>G) c.353C>G (p.Thr118Ser) c.314-1183C>G (n.314-1183C>G) c.76C>G n.626C>G n.593C>G
19	g.11105382C>T	CA10584938	LDLR	c.734C>T (p.Thr245Ile) c.476C>T (p.Thr159Ile) c.730C>T c.314-2010C>T (n.314-2010C>T) c.353C>T (p.Thr118Ile) c.314-1183C>T (n.314-1183C>T) c.76C>T n.626C>T n.593C>T	ClinVar dbSNP
19	g.11105384_11105392del	CA2497030118	LDLR	c.736_744del (p.Cys246_Pro248del) c.478_486del (p.Cys160_Pro162del) c.732_740del c.314-2008_314-2000del (n.314-2008_314-2000del) c.355_363del (p.Cys119_Pro121del) c.314-1181_314-1173del (n.314-1181_314-1173del) c.78_86del n.628_636del n.595_603del
19	g.11105383C>A	CA505743155	LDLR	c.735C>A (p.Thr245=) c.477C>A (p.Thr159=) c.731C>A c.314-2009C>A (n.314-2009C>A) c.354C>A (p.Thr118=) c.314-1182C>A (n.314-1182C>A) c.77C>A n.627C>A n.594C>A	ClinVar dbSNP
19	g.11105383C=	CA2322767413	LDLR	c.735C= (p.Thr245=) c.477C= (p.Thr159=) c.731C= c.314-2009C= (n.314-2009C=) c.354C= (p.Thr118=) c.314-1182C= (n.314-1182C=) c.77C= n.627C= n.594C=
19	g.11105383C>G	CA505743156	LDLR	c.735C>G (p.Thr245=) c.477C>G (p.Thr159=) c.731C>G c.314-2009C>G (n.314-2009C>G) c.354C>G (p.Thr118=) c.314-1182C>G (n.314-1182C>G) c.77C>G n.627C>G n.594C>G	ClinVar
19	g.11105383C>T	CA505743157	LDLR	c.735C>T (p.Thr245=) c.477C>T (p.Thr159=) c.731C>T c.314-2009C>T (n.314-2009C>T) c.354C>T (p.Thr118=) c.314-1182C>T (n.314-1182C>T) c.77C>T n.627C>T n.594C>T	ClinVar dbSNP
19	g.11105386_11105398del	CA2697556252	LDLR	c.738_750del (p.Ile247GlyfsTer?) c.480_492del (p.Ile161GlyfsTer?) c.734_746del c.314-2006_314-1994del (n.314-2006_314-1994del) c.357_369del (p.Ile120GlyfsTer?) c.314-1179_314-1167del (n.314-1179_314-1167del) c.80_92del n.630_642del n.597_609del	ClinVar
19	g.11105384T>A	CA404076699	LDLR	c.736T>A (p.Cys246Ser) c.478T>A (p.Cys160Ser) c.732T>A c.314-2008T>A (n.314-2008T>A) c.355T>A (p.Cys119Ser) c.314-1181T>A (n.314-1181T>A) c.78T>A n.628T>A n.595T>A	ClinVar dbSNP
19	g.11105384T>C	CA10584939	LDLR	c.736T>C (p.Cys246Arg) c.478T>C (p.Cys160Arg) c.732T>C c.314-2008T>C (n.314-2008T>C) c.355T>C (p.Cys119Arg) c.314-1181T>C (n.314-1181T>C) c.78T>C n.628T>C n.595T>C	ClinVar dbSNP
19	g.11105384T>G	CA10584940	LDLR	c.736T>G (p.Cys246Gly) c.478T>G (p.Cys160Gly) c.732T>G c.314-2008T>G (n.314-2008T>G) c.355T>G (p.Cys119Gly) c.314-1181T>G (n.314-1181T>G) c.78T>G n.628T>G n.595T>G	ClinVar dbSNP
19	g.11105384T=	CA2322767414	LDLR	c.736T= (p.Cys246=) c.478T= (p.Cys160=) c.732T= c.314-2008T= (n.314-2008T=) c.355T= (p.Cys119=) c.314-1181T= (n.314-1181T=) c.78T= n.628T= n.595T=
19	g.11105385G>A	CA10584941	LDLR	c.737G>A (p.Cys246Tyr) c.479G>A (p.Cys160Tyr) c.733G>A c.314-2007G>A (n.314-2007G>A) c.356G>A (p.Cys119Tyr) c.314-1180G>A (n.314-1180G>A) c.79G>A n.629G>A n.596G>A	ClinVar dbSNP
19	g.11105385G>C	CA404076709	LDLR	c.737G>C (p.Cys246Ser) c.479G>C (p.Cys160Ser) c.733G>C c.314-2007G>C (n.314-2007G>C) c.356G>C (p.Cys119Ser) c.314-1180G>C (n.314-1180G>C) c.79G>C n.629G>C n.596G>C	ClinVar
19	g.11105385G=	CA2322767415	LDLR	c.737G= (p.Cys246=) c.479G= (p.Cys160=) c.733G= c.314-2007G= (n.314-2007G=) c.356G= (p.Cys119=) c.314-1180G= (n.314-1180G=) c.79G= n.629G= n.596G=
19	g.11105385G>T	CA404076712	LDLR	c.737G>T (p.Cys246Phe) c.479G>T (p.Cys160Phe) c.733G>T c.314-2007G>T (n.314-2007G>T) c.356G>T (p.Cys119Phe) c.314-1180G>T (n.314-1180G>T) c.79G>T n.629G>T n.596G>T	ClinVar dbSNP
19	g.11105385_11105386delinsGC	CA2322767416	LDLR	c.737_738delinsGC (p.Cys246=) c.479_480delinsGC (p.Cys160=) c.733_734delinsGC c.314-2007_314-2006delinsGC (n.314-2007_314-2006delinsGC) c.356_357delinsGC (p.Cys119=) c.314-1180_314-1179delinsGC (n.314-1180_314-1179delinsGC) c.79_80delinsGC n.629_630delinsGC n.596_597delinsGC
19	g.11105385_11105386delinsTT	CA645373224	LDLR	c.737_738delinsTT (p.Cys246Phe) c.479_480delinsTT (p.Cys160Phe) c.733_734delinsTT c.314-2007_314-2006delinsTT (n.314-2007_314-2006delinsTT) c.356_357delinsTT (p.Cys119Phe) c.314-1180_314-1179delinsTT (n.314-1180_314-1179delinsTT) c.79_80delinsTT n.629_630delinsTT n.596_597delinsTT	ClinVar dbSNP
19	g.11105385_11105392delinsGCATCCCC	CA2322767417	LDLR	c.737_744delinsGCATCCCC (p.Cys246=) c.479_486delinsGCATCCCC (p.Cys160=) c.733_740delinsGCATCCCC c.314-2007_314-2000delinsGCATCCCC (n.314-2007_314-2000delinsGCATCCCC) c.356_363delinsGCATCCCC (p.Cys119=) c.314-1180_314-1173delinsGCATCCCC (n.314-1180_314-1173delinsGCATCCCC) c.79_86delinsGCATCCCC n.629_636delinsGCATCCCC n.596_603delinsGCATCCCC
19	g.11105386C>A	CA404076719	LDLR	c.738C>A (p.Cys246Ter) c.480C>A (p.Cys160Ter) c.734C>A c.314-2006C>A (n.314-2006C>A) c.357C>A (p.Cys119Ter) c.314-1179C>A (n.314-1179C>A) c.80C>A n.630C>A n.597C>A
19	g.11105386C=	CA2322767418	LDLR	c.738C= (p.Cys246=) c.480C= (p.Cys160=) c.734C= c.314-2006C= (n.314-2006C=) c.357C= (p.Cys119=) c.314-1179C= (n.314-1179C=) c.80C= n.630C= n.597C=
19	g.11105386C>G	CA404076721	LDLR	c.738C>G (p.Cys246Trp) c.480C>G (p.Cys160Trp) c.734C>G c.314-2006C>G (n.314-2006C>G) c.357C>G (p.Cys119Trp) c.314-1179C>G (n.314-1179C>G) c.80C>G n.630C>G n.597C>G
19	g.11105386C>T	CA043673	LDLR	c.738C>T (p.Cys246=) c.480C>T (p.Cys160=) c.734C>T c.314-2006C>T (n.314-2006C>T) c.357C>T (p.Cys119=) c.314-1179C>T (n.314-1179C>T) c.80C>T n.630C>T n.597C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11105388_11105394del	CA10584942	LDLR	c.740_746del (p.Ile247SerfsTer?) c.482_488del (p.Ile161SerfsTer?) c.736_742del c.314-2004_314-1998del (n.314-2004_314-1998del) c.359_365del (p.Ile120SerfsTer?) c.314-1177_314-1171del (n.314-1177_314-1171del) c.82_88del n.632_638del n.599_605del	ClinVar dbSNP
19	g.11105387A>C	CA404076730	LDLR	c.739A>C (p.Ile247Leu) c.481A>C (p.Ile161Leu) c.735A>C c.314-2005A>C (n.314-2005A>C) c.358A>C (p.Ile120Leu) c.314-1178A>C (n.314-1178A>C) c.81A>C n.631A>C n.598A>C	gnomAD v4
19	g.11105387A>G	CA404076732	LDLR	c.739A>G (p.Ile247Val) c.481A>G (p.Ile161Val) c.735A>G c.314-2005A>G (n.314-2005A>G) c.358A>G (p.Ile120Val) c.314-1178A>G (n.314-1178A>G) c.81A>G n.631A>G n.598A>G
19	g.11105387A>T	CA404076735	LDLR	c.739A>T (p.Ile247Phe) c.481A>T (p.Ile161Phe) c.735A>T c.314-2005A>T (n.314-2005A>T) c.358A>T (p.Ile120Phe) c.314-1178A>T (n.314-1178A>T) c.81A>T n.631A>T n.598A>T
19	g.11105387_11105388insGACAGC	CA2825002698	LDLR	c.739_740insGACAGC (p.Ile247delinsArgGlnLeu) c.481_482insGACAGC (p.Ile161delinsArgGlnLeu) c.735_736insGACAGC c.314-2005_314-2004insGACAGC (n.314-2005_314-2004insGACAGC) c.358_359insGACAGC (p.Ile120delinsArgGlnLeu) c.314-1178_314-1177insGACAGC (n.314-1178_314-1177insGACAGC) c.81_82insGACAGC n.631_632insGACAGC n.598_599insGACAGC	ClinVar
19	g.11105388T>A	CA043692	LDLR	c.740T>A (p.Ile247Asn) c.482T>A (p.Ile161Asn) c.736T>A c.314-2004T>A (n.314-2004T>A) c.359T>A (p.Ile120Asn) c.314-1177T>A (n.314-1177T>A) c.82T>A n.632T>A n.599T>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11105388T>C	CA404076738	LDLR	c.740T>C (p.Ile247Thr) c.482T>C (p.Ile161Thr) c.736T>C c.314-2004T>C (n.314-2004T>C) c.359T>C (p.Ile120Thr) c.314-1177T>C (n.314-1177T>C) c.82T>C n.632T>C n.599T>C	ClinVar dbSNP
19	g.11105388T>G	CA404076740	LDLR	c.740T>G (p.Ile247Ser) c.482T>G (p.Ile161Ser) c.736T>G c.314-2004T>G (n.314-2004T>G) c.359T>G (p.Ile120Ser) c.314-1177T>G (n.314-1177T>G) c.82T>G n.632T>G n.599T>G
19	g.11105388T=	CA2322767419	LDLR	c.740T= (p.Ile247=) c.482T= (p.Ile161=) c.736T= c.314-2004T= (n.314-2004T=) c.359T= (p.Ile120=) c.314-1177T= (n.314-1177T=) c.82T= n.632T= n.599T=
19	g.11105389C>A	CA305296819	LDLR	c.741C>A (p.Ile247=) c.483C>A (p.Ile161=) c.737C>A c.314-2003C>A (n.314-2003C>A) c.360C>A (p.Ile120=) c.314-1176C>A (n.314-1176C>A) c.83C>A n.633C>A n.600C>A	ClinVar dbSNP gnomAD v4
19	g.11105389C=	CA2322767420	LDLR	c.741C= (p.Ile247=) c.483C= (p.Ile161=) c.737C= c.314-2003C= (n.314-2003C=) c.360C= (p.Ile120=) c.314-1176C= (n.314-1176C=) c.83C= n.633C= n.600C=
19	g.11105389C>G	CA404076743	LDLR	c.741C>G (p.Ile247Met) c.483C>G (p.Ile161Met) c.737C>G c.314-2003C>G (n.314-2003C>G) c.360C>G (p.Ile120Met) c.314-1176C>G (n.314-1176C>G) c.83C>G n.633C>G n.600C>G
19	g.11105389C>T	CA505743163	LDLR	c.741C>T (p.Ile247=) c.483C>T (p.Ile161=) c.737C>T c.314-2003C>T (n.314-2003C>T) c.360C>T (p.Ile120=) c.314-1176C>T (n.314-1176C>T) c.83C>T n.633C>T n.600C>T	ClinVar
19	g.11105393del	CA645617878	LDLR	c.745del (p.Gln249SerfsTer?) c.487del (p.Gln163SerfsTer?) c.741del c.314-1999del (n.314-1999del) c.364del (p.Gln122SerfsTer?) c.314-1172del (n.314-1172del) c.87del n.637del n.604del	COSMIC
19	g.11105390_11105396del	CA2573050573	LDLR	c.742_748del (p.Pro248CysfsTer?) c.484_490del (p.Pro162CysfsTer?) c.738_744del c.314-2002_314-1996del (n.314-2002_314-1996del) c.361_367del (p.Pro121CysfsTer?) c.314-1175_314-1169del (n.314-1175_314-1169del) c.84_90del n.634_640del n.601_607del
19	g.11105390C>A	CA404076745	LDLR	c.742C>A (p.Pro248Thr) c.484C>A (p.Pro162Thr) c.738C>A c.314-2002C>A (n.314-2002C>A) c.361C>A (p.Pro121Thr) c.314-1175C>A (n.314-1175C>A) c.84C>A n.634C>A n.601C>A
19	g.11105390C=	CA2322767421	LDLR	c.742C= (p.Pro248=) c.484C= (p.Pro162=) c.738C= c.314-2002C= (n.314-2002C=) c.361C= (p.Pro121=) c.314-1175C= (n.314-1175C=) c.84C= n.634C= n.601C=
19	g.11105390C>G	CA404076748	LDLR	c.742C>G (p.Pro248Ala) c.484C>G (p.Pro162Ala) c.738C>G c.314-2002C>G (n.314-2002C>G) c.361C>G (p.Pro121Ala) c.314-1175C>G (n.314-1175C>G) c.84C>G n.634C>G n.601C>G
19	g.11105390C>T	CA404076751	LDLR	c.742C>T (p.Pro248Ser) c.484C>T (p.Pro162Ser) c.738C>T c.314-2002C>T (n.314-2002C>T) c.361C>T (p.Pro121Ser) c.314-1175C>T (n.314-1175C>T) c.84C>T n.634C>T n.601C>T	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.11105391_11105392insAACAGCTCCACCTGCATCC	CA2573050574	LDLR	c.743_744insAACAGCTCCACCTGCATCC (p.Gln249ThrfsTer23) c.485_486insAACAGCTCCACCTGCATCC (p.Gln163ThrfsTer23) c.739_740insAACAGCTCCACCTGCATCC c.314-2001_314-2000insAACAGCTCCACCTGCATCC (n.314-2001_314-2000insAACAGCTCCACCTGCATCC) c.362_363insAACAGCTCCACCTGCATCC (p.Gln122ThrfsTer23) c.314-1174_314-1173insAACAGCTCCACCTGCATCC (n.314-1174_314-1173insAACAGCTCCACCTGCATCC) c.85_86insAACAGCTCCACCTGCATCC n.635_636insAACAGCTCCACCTGCATCC n.602_603insAACAGCTCCACCTGCATCC
19	g.11105391C>A	CA404076758	LDLR	c.743C>A (p.Pro248His) c.485C>A (p.Pro162His) c.739C>A c.314-2001C>A (n.314-2001C>A) c.362C>A (p.Pro121His) c.314-1174C>A (n.314-1174C>A) c.85C>A n.635C>A n.602C>A	ClinVar
19	g.11105391C=	CA2322767422	LDLR	c.743C= (p.Pro248=) c.485C= (p.Pro162=) c.739C= c.314-2001C= (n.314-2001C=) c.362C= (p.Pro121=) c.314-1174C= (n.314-1174C=) c.85C= n.635C= n.602C=
19	g.11105391C>G	CA404076755	LDLR	c.743C>G (p.Pro248Arg) c.485C>G (p.Pro162Arg) c.739C>G c.314-2001C>G (n.314-2001C>G) c.362C>G (p.Pro121Arg) c.314-1174C>G (n.314-1174C>G) c.85C>G n.635C>G n.602C>G
19	g.11105391C>T	CA10584943	LDLR	c.743C>T (p.Pro248Leu) c.485C>T (p.Pro162Leu) c.739C>T c.314-2001C>T (n.314-2001C>T) c.362C>T (p.Pro121Leu) c.314-1174C>T (n.314-1174C>T) c.85C>T n.635C>T n.602C>T	ClinVar dbSNP gnomAD v4
19	g.11105392C>A	CA505743167	LDLR	c.744C>A (p.Pro248=) c.486C>A (p.Pro162=) c.740C>A c.314-2000C>A (n.314-2000C>A) c.363C>A (p.Pro121=) c.314-1173C>A (n.314-1173C>A) c.86C>A n.636C>A n.603C>A
19	g.11105392C>G	CA505743170	LDLR	c.744C>G (p.Pro248=) c.486C>G (p.Pro162=) c.740C>G c.314-2000C>G (n.314-2000C>G) c.363C>G (p.Pro121=) c.314-1173C>G (n.314-1173C>G) c.86C>G n.636C>G n.603C>G
19	g.11105392C>T	CA505743168	LDLR	c.744C>T (p.Pro248=) c.486C>T (p.Pro162=) c.740C>T c.314-2000C>T (n.314-2000C>T) c.363C>T (p.Pro121=) c.314-1173C>T (n.314-1173C>T) c.86C>T n.636C>T n.603C>T
19	g.11105393C>A	CA404076759	LDLR	c.745C>A (p.Gln249Lys) c.487C>A (p.Gln163Lys) c.741C>A c.314-1999C>A (n.314-1999C>A) c.364C>A (p.Gln122Lys) c.314-1172C>A (n.314-1172C>A) c.87C>A n.637C>A n.604C>A
19	g.11105393C=	CA2322767423	LDLR	c.745C= (p.Gln249=) c.487C= (p.Gln163=) c.741C= c.314-1999C= (n.314-1999C=) c.364C= (p.Gln122=) c.314-1172C= (n.314-1172C=) c.87C= n.637C= n.604C=
19	g.11105393C>G	CA404076760	LDLR	c.745C>G (p.Gln249Glu) c.487C>G (p.Gln163Glu) c.741C>G c.314-1999C>G (n.314-1999C>G) c.364C>G (p.Gln122Glu) c.314-1172C>G (n.314-1172C>G) c.87C>G n.637C>G n.604C>G
19	g.11105393C>T	CA404076762	LDLR	c.745C>T (p.Gln249Ter) c.487C>T (p.Gln163Ter) c.741C>T c.314-1999C>T (n.314-1999C>T) c.364C>T (p.Gln122Ter) c.314-1172C>T (n.314-1172C>T) c.87C>T n.637C>T n.604C>T	ClinVar dbSNP
19	g.11105394A>C	CA404076764	LDLR	c.746A>C (p.Gln249Pro) c.488A>C (p.Gln163Pro) c.742A>C c.314-1998A>C (n.314-1998A>C) c.365A>C (p.Gln122Pro) c.314-1171A>C (n.314-1171A>C) c.88A>C n.638A>C n.605A>C
19	g.11105394A>G	CA404076767	LDLR	c.746A>G (p.Gln249Arg) c.488A>G (p.Gln163Arg) c.742A>G c.314-1998A>G (n.314-1998A>G) c.365A>G (p.Gln122Arg) c.314-1171A>G (n.314-1171A>G) c.88A>G n.638A>G n.605A>G
19	g.11105394A>T	CA404076769	LDLR	c.746A>T (p.Gln249Leu) c.488A>T (p.Gln163Leu) c.742A>T c.314-1998A>T (n.314-1998A>T) c.365A>T (p.Gln122Leu) c.314-1171A>T (n.314-1171A>T) c.88A>T n.638A>T n.605A>T
19	g.11105394dup	CA2695223202	LDLR	c.746dup (p.Leu250AlafsTer16) c.488dup (p.Leu164AlafsTer16) c.742dup c.314-1998dup (n.314-1998dup) c.365dup (p.Leu123AlafsTer16) c.314-1171dup (n.314-1171dup) c.88dup n.638dup n.605dup
19	g.11105395G>A	CA505743175	LDLR	c.747G>A (p.Gln249=) c.489G>A (p.Gln163=) c.743G>A c.314-1997G>A (n.314-1997G>A) c.366G>A (p.Gln122=) c.314-1170G>A (n.314-1170G>A) c.89G>A n.639G>A n.606G>A
19	g.11105395G>C	CA404076773	LDLR	c.747G>C (p.Gln249His) c.489G>C (p.Gln163His) c.743G>C c.314-1997G>C (n.314-1997G>C) c.366G>C (p.Gln122His) c.314-1170G>C (n.314-1170G>C) c.89G>C n.639G>C n.606G>C
19	g.11105395G>T	CA404076775	LDLR	c.747G>T (p.Gln249His) c.489G>T (p.Gln163His) c.743G>T c.314-1997G>T (n.314-1997G>T) c.366G>T (p.Gln122His) c.314-1170G>T (n.314-1170G>T) c.89G>T n.639G>T n.606G>T
19	g.11105396C>A	CA404076778	LDLR	c.748C>A (p.Leu250Met) c.490C>A (p.Leu164Met) c.744C>A c.314-1996C>A (n.314-1996C>A) c.367C>A (p.Leu123Met) c.314-1169C>A (n.314-1169C>A) c.90C>A n.640C>A n.607C>A
19	g.11105396C=	CA2322767424	LDLR	c.748C= (p.Leu250=) c.490C= (p.Leu164=) c.744C= c.314-1996C= (n.314-1996C=) c.367C= (p.Leu123=) c.314-1169C= (n.314-1169C=) c.90C= n.640C= n.607C=
19	g.11105396C>G	CA404076780	LDLR	c.748C>G (p.Leu250Val) c.490C>G (p.Leu164Val) c.744C>G c.314-1996C>G (n.314-1996C>G) c.367C>G (p.Leu123Val) c.314-1169C>G (n.314-1169C>G) c.90C>G n.640C>G n.607C>G
19	g.11105396C>T	CA505743176	LDLR	c.748C>T (p.Leu250=) c.490C>T (p.Leu164=) c.744C>T c.314-1996C>T (n.314-1996C>T) c.367C>T (p.Leu123=) c.314-1169C>T (n.314-1169C>T) c.90C>T n.640C>T n.607C>T	dbSNP gnomAD v2 gnomAD v4 COSMIC
19	g.11105397T>A	CA404076783	LDLR	c.749T>A (p.Leu250Gln) c.491T>A (p.Leu164Gln) c.745T>A c.314-1995T>A (n.314-1995T>A) c.368T>A (p.Leu123Gln) c.314-1168T>A (n.314-1168T>A) c.91T>A n.641T>A n.608T>A
19	g.11105397T>C	CA10584944	LDLR	c.749T>C (p.Leu250Pro) c.491T>C (p.Leu164Pro) c.745T>C c.314-1995T>C (n.314-1995T>C) c.368T>C (p.Leu123Pro) c.314-1168T>C (n.314-1168T>C) c.91T>C n.641T>C n.608T>C	ClinVar dbSNP
19	g.11105397T>G	CA404076788	LDLR	c.749T>G (p.Leu250Arg) c.491T>G (p.Leu164Arg) c.745T>G c.314-1995T>G (n.314-1995T>G) c.368T>G (p.Leu123Arg) c.314-1168T>G (n.314-1168T>G) c.91T>G n.641T>G n.608T>G
19	g.11105397T=	CA2322767425	LDLR	c.749T= (p.Leu250=) c.491T= (p.Leu164=) c.745T= c.314-1995T= (n.314-1995T=) c.368T= (p.Leu123=) c.314-1168T= (n.314-1168T=) c.91T= n.641T= n.608T=
19	g.11105398G>A	CA505743177	LDLR	c.750G>A (p.Leu250=) c.492G>A (p.Leu164=) c.746G>A c.314-1994G>A (n.314-1994G>A) c.369G>A (p.Leu123=) c.314-1167G>A (n.314-1167G>A) c.92G>A n.642G>A n.609G>A	dbSNP
19	g.11105398G>C	CA505743178	LDLR	c.750G>C (p.Leu250=) c.492G>C (p.Leu164=) c.746G>C c.314-1994G>C (n.314-1994G>C) c.369G>C (p.Leu123=) c.314-1167G>C (n.314-1167G>C) c.92G>C n.642G>C n.609G>C
19	g.11105398G=	CA2322767426	LDLR	c.750G= (p.Leu250=) c.492G= (p.Leu164=) c.746G= c.314-1994G= (n.314-1994G=) c.369G= (p.Leu123=) c.314-1167G= (n.314-1167G=) c.92G= n.642G= n.609G=
19	g.11105398G>T	CA505743179	LDLR	c.750G>T (p.Leu250=) c.492G>T (p.Leu164=) c.746G>T c.314-1994G>T (n.314-1994G>T) c.369G>T (p.Leu123=) c.314-1167G>T (n.314-1167G>T) c.92G>T n.642G>T n.609G>T
19	g.11105399T>A	CA404076797	LDLR	c.751T>A (p.Trp251Arg) c.493T>A (p.Trp165Arg) c.747T>A c.314-1993T>A (n.314-1993T>A) c.370T>A (p.Trp124Arg) c.314-1166T>A (n.314-1166T>A) c.93T>A n.643T>A n.610T>A
19	g.11105399T>C	CA404076793	LDLR	c.751T>C (p.Trp251Arg) c.493T>C (p.Trp165Arg) c.747T>C c.314-1993T>C (n.314-1993T>C) c.370T>C (p.Trp124Arg) c.314-1166T>C (n.314-1166T>C) c.93T>C n.643T>C n.610T>C
19	g.11105399T>G	CA10584945	LDLR	c.751T>G (p.Trp251Gly) c.493T>G (p.Trp165Gly) c.747T>G c.314-1993T>G (n.314-1993T>G) c.370T>G (p.Trp124Gly) c.314-1166T>G (n.314-1166T>G) c.93T>G n.643T>G n.610T>G	ClinVar dbSNP
19	g.11105399T=	CA2322767427	LDLR	c.751T= (p.Trp251=) c.493T= (p.Trp165=) c.747T= c.314-1993T= (n.314-1993T=) c.370T= (p.Trp124=) c.314-1166T= (n.314-1166T=) c.93T= n.643T= n.610T=
19	g.11105400G>A	CA404076799	LDLR	c.752G>A (p.Trp251Ter) c.494G>A (p.Trp165Ter) c.748G>A c.314-1992G>A (n.314-1992G>A) c.371G>A (p.Trp124Ter) c.314-1165G>A (n.314-1165G>A) c.94G>A n.644G>A n.611G>A	ClinVar
19	g.11105400G>C	CA404076800	LDLR	c.752G>C (p.Trp251Ser) c.494G>C (p.Trp165Ser) c.748G>C c.314-1992G>C (n.314-1992G>C) c.371G>C (p.Trp124Ser) c.314-1165G>C (n.314-1165G>C) c.94G>C n.644G>C n.611G>C
19	g.11105400G=	CA2322767428	LDLR	c.752G= (p.Trp251=) c.494G= (p.Trp165=) c.748G= c.314-1992G= (n.314-1992G=) c.371G= (p.Trp124=) c.314-1165G= (n.314-1165G=) c.94G= n.644G= n.611G=
19	g.11105400G>T	CA404076801	LDLR	c.752G>T (p.Trp251Leu) c.494G>T (p.Trp165Leu) c.748G>T c.314-1992G>T (n.314-1992G>T) c.371G>T (p.Trp124Leu) c.314-1165G>T (n.314-1165G>T) c.94G>T n.644G>T n.611G>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.11105401G>A	CA10584946	LDLR	c.753G>A (p.Trp251Ter) c.495G>A (p.Trp165Ter) c.749G>A c.314-1991G>A (n.314-1991G>A) c.372G>A (p.Trp124Ter) c.314-1164G>A (n.314-1164G>A) c.95G>A n.645G>A n.612G>A	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.11105401G>C	CA404076804	LDLR	c.753G>C (p.Trp251Cys) c.495G>C (p.Trp165Cys) c.749G>C c.314-1991G>C (n.314-1991G>C) c.372G>C (p.Trp124Cys) c.314-1164G>C (n.314-1164G>C) c.95G>C n.645G>C n.612G>C
19	g.11105401G=	CA2322767429	LDLR	c.753G= (p.Trp251=) c.495G= (p.Trp165=) c.749G= c.314-1991G= (n.314-1991G=) c.372G= (p.Trp124=) c.314-1164G= (n.314-1164G=) c.95G= n.645G= n.612G=
19	g.11105401G>T	CA404076807	LDLR	c.753G>T (p.Trp251Cys) c.495G>T (p.Trp165Cys) c.749G>T c.314-1991G>T (n.314-1991G>T) c.372G>T (p.Trp124Cys) c.314-1164G>T (n.314-1164G>T) c.95G>T n.645G>T n.612G>T
19	g.11105402G>A	CA404076810	LDLR	c.754G>A (p.Ala252Thr) c.496G>A (p.Ala166Thr) c.750G>A c.314-1990G>A (n.314-1990G>A) c.373G>A (p.Ala125Thr) c.314-1163G>A (n.314-1163G>A) c.96G>A n.646G>A n.613G>A	ClinVar dbSNP
19	g.11105402G>C	CA404076813	LDLR	c.754G>C (p.Ala252Pro) c.496G>C (p.Ala166Pro) c.750G>C c.314-1990G>C (n.314-1990G>C) c.373G>C (p.Ala125Pro) c.314-1163G>C (n.314-1163G>C) c.96G>C n.646G>C n.613G>C
19	g.11105402G=	CA2322767430	LDLR	c.754G= (p.Ala252=) c.496G= (p.Ala166=) c.750G= c.314-1990G= (n.314-1990G=) c.373G= (p.Ala125=) c.314-1163G= (n.314-1163G=) c.96G= n.646G= n.613G=
19	g.11105402G>T	CA404076814	LDLR	c.754G>T (p.Ala252Ser) c.496G>T (p.Ala166Ser) c.750G>T c.314-1990G>T (n.314-1990G>T) c.373G>T (p.Ala125Ser) c.314-1163G>T (n.314-1163G>T) c.96G>T n.646G>T n.613G>T	gnomAD v4

Number of alleles fetched