Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11100222_11107515delCA658824387LDLRc.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
19g.11101932_11106610delCA1139666288LDLRc.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
19g.11102141_11108134delCA2573050561LDLRc.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
19g.11102152_11108145delCA10584784LDLRc.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
19g.11102477_11108484delCA2573050562LDLRc.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
19g.11102664_11105600delCA2580061394LDLRc.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
19g.11102664_11106687delCA10584788LDLRc.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
19g.11102663_11107515delCA658824388LDLRc.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
19g.11102785_11107393delCA916084172LDLRc.570_1077del
c.312_819del
c.566_1073del
c.312_315del
c.191-2435_696del
c.312_438del
n.462_969del
n.429_936del
19g.11104109_11109216delCA2573050567LDLRc.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
19g.11104774_11112892dupCA2580612594LDLRc.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
19g.11105158_11111699dupCA2580612596LDLRc.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
19g.11105170_11111689dupCA2580612597LDLRc.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
19g.11105207_11105225delCA2830763874LDLRc.572-13_577del
c.314-13_319del
c.568-13_573del
c.314-2185_314-2167del (n.314-2185_314-2167del)
c.191-13_196del
c.314-1358_314-1340del (n.314-1358_314-1340del)
n.464-13_469del
n.431-13_436del
19g.11105207delCA2582473393LDLRc.572-13del (n.572-13del)
c.314-13del (n.314-13del)
c.568-13del
c.314-2185del (n.314-2185del)
c.191-13del (n.191-13del)
c.314-1358del (n.314-1358del)
n.464-13del
n.431-13del
 gnomAD v4
19g.11105208C>ACA2576626011LDLRc.572-12C>A (n.572-12C>A)
c.314-12C>A (n.314-12C>A)
c.568-12C>A
c.314-2184C>A (n.314-2184C>A)
c.191-12C>A (n.191-12C>A)
c.314-1357C>A (n.314-1357C>A)
n.464-12C>A
n.431-12C>A
 ClinVar
19g.11105208C=CA2322767260LDLRc.572-12C= (n.572-12C=)
c.314-12C= (n.314-12C=)
c.568-12C=
c.314-2184C= (n.314-2184C=)
c.191-12C= (n.191-12C=)
c.314-1357C= (n.314-1357C=)
n.464-12C=
n.431-12C=
19g.11105208C>GCA2739276480LDLRc.572-12C>G (n.572-12C>G)
c.314-12C>G (n.314-12C>G)
c.568-12C>G
c.314-2184C>G (n.314-2184C>G)
c.191-12C>G (n.191-12C>G)
c.314-1357C>G (n.314-1357C>G)
n.464-12C>G
n.431-12C>G
 ClinVar
19g.11105208C>TCA632115390LDLRc.572-12C>T (n.572-12C>T)
c.314-12C>T (n.314-12C>T)
c.568-12C>T
c.314-2184C>T (n.314-2184C>T)
c.191-12C>T (n.191-12C>T)
c.314-1357C>T (n.314-1357C>T)
n.464-12C>T
n.431-12C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11105209C>TCA2582473394LDLRc.572-11C>T (n.572-11C>T)
c.314-11C>T (n.314-11C>T)
c.568-11C>T
c.314-2183C>T (n.314-2183C>T)
c.191-11C>T (n.191-11C>T)
c.314-1356C>T (n.314-1356C>T)
n.464-11C>T
n.431-11C>T
 gnomAD v4
19g.11105210A=CA2322767261LDLRc.572-10A= (n.572-10A=)
c.314-10A= (n.314-10A=)
c.568-10A=
c.314-2182A= (n.314-2182A=)
c.191-10A= (n.191-10A=)
c.314-1355A= (n.314-1355A=)
n.464-10A=
n.431-10A=
19g.11105210A>GCA2580096407LDLRc.572-10A>G (n.572-10A>G)
c.314-10A>G (n.314-10A>G)
c.568-10A>G
c.314-2182A>G (n.314-2182A>G)
c.191-10A>G (n.191-10A>G)
c.314-1355A>G (n.314-1355A>G)
n.464-10A>G
n.431-10A>G
 ClinVar
19g.11105210A>TCA042932LDLRc.572-10A>T (n.572-10A>T)
c.314-10A>T (n.314-10A>T)
c.568-10A>T
c.314-2182A>T (n.314-2182A>T)
c.191-10A>T (n.191-10A>T)
c.314-1355A>T (n.314-1355A>T)
n.464-10A>T
n.431-10A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105211T>ACA305296719LDLRc.572-9T>A (n.572-9T>A)
c.314-9T>A (n.314-9T>A)
c.568-9T>A
c.314-2181T>A (n.314-2181T>A)
c.191-9T>A (n.191-9T>A)
c.314-1354T>A (n.314-1354T>A)
n.464-9T>A
n.431-9T>A
 ClinVar dbSNP gnomAD v4
19g.11105211T=CA2322767262LDLRc.572-9T= (n.572-9T=)
c.314-9T= (n.314-9T=)
c.568-9T=
c.314-2181T= (n.314-2181T=)
c.191-9T= (n.191-9T=)
c.314-1354T= (n.314-1354T=)
n.464-9T=
n.431-9T=
19g.11105212C>TCA2582473396LDLRc.572-8C>T (n.572-8C>T)
c.314-8C>T (n.314-8C>T)
c.568-8C>T
c.314-2180C>T (n.314-2180C>T)
c.191-8C>T (n.191-8C>T)
c.314-1353C>T (n.314-1353C>T)
n.464-8C>T
n.431-8C>T
 gnomAD v4
19g.11105213C>ACA2813598995LDLRc.572-7C>A (n.572-7C>A)
c.314-7C>A (n.314-7C>A)
c.568-7C>A
c.314-2179C>A (n.314-2179C>A)
c.191-7C>A (n.191-7C>A)
c.314-1352C>A (n.314-1352C>A)
n.464-7C>A
n.431-7C>A
19g.11105213C=CA2322767263LDLRc.572-7C= (n.572-7C=)
c.314-7C= (n.314-7C=)
c.568-7C=
c.314-2179C= (n.314-2179C=)
c.191-7C= (n.191-7C=)
c.314-1352C= (n.314-1352C=)
n.464-7C=
n.431-7C=
19g.11105213C>TCA632115391LDLRc.572-7C>T (n.572-7C>T)
c.314-7C>T (n.314-7C>T)
c.568-7C>T
c.314-2179C>T (n.314-2179C>T)
c.191-7C>T (n.191-7C>T)
c.314-1352C>T (n.314-1352C>T)
n.464-7C>T
n.431-7C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105214C>GCA2573054700LDLRc.572-6C>G (n.572-6C>G)
c.314-6C>G (n.314-6C>G)
c.568-6C>G
c.314-2178C>G (n.314-2178C>G)
c.191-6C>G (n.191-6C>G)
c.314-1351C>G (n.314-1351C>G)
n.464-6C>G
n.431-6C>G
 ClinVar dbSNP
19g.11105214C>TCA2499225309LDLRc.572-6C>T (n.572-6C>T)
c.314-6C>T (n.314-6C>T)
c.568-6C>T
c.314-2178C>T (n.314-2178C>T)
c.191-6C>T (n.191-6C>T)
c.314-1351C>T (n.314-1351C>T)
n.464-6C>T
n.431-6C>T
 ClinVar dbSNP
19g.11105215T>CCA043036LDLRc.572-5T>C (n.572-5T>C)
c.314-5T>C (n.314-5T>C)
c.568-5T>C
c.314-2177T>C (n.314-2177T>C)
c.191-5T>C (n.191-5T>C)
c.314-1350T>C (n.314-1350T>C)
n.464-5T>C
n.431-5T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105215T>GCA632115392LDLRc.572-5T>G (n.572-5T>G)
c.314-5T>G (n.314-5T>G)
c.568-5T>G
c.314-2177T>G (n.314-2177T>G)
c.191-5T>G (n.191-5T>G)
c.314-1350T>G (n.314-1350T>G)
n.464-5T>G
n.431-5T>G
 dbSNP gnomAD v2 gnomAD v4
19g.11105215T=CA2322767264LDLRc.572-5T= (n.572-5T=)
c.314-5T= (n.314-5T=)
c.568-5T=
c.314-2177T= (n.314-2177T=)
c.191-5T= (n.191-5T=)
c.314-1350T= (n.314-1350T=)
n.464-5T=
n.431-5T=
19g.11105216G>ACA305296721LDLRc.572-4G>A (n.572-4G>A)
c.314-4G>A (n.314-4G>A)
c.568-4G>A
c.314-2176G>A (n.314-2176G>A)
c.191-4G>A (n.191-4G>A)
c.314-1349G>A (n.314-1349G>A)
n.464-4G>A
n.431-4G>A
 dbSNP
19g.11105216G=CA2322767265LDLRc.572-4G= (n.572-4G=)
c.314-4G= (n.314-4G=)
c.568-4G=
c.314-2176G= (n.314-2176G=)
c.191-4G= (n.191-4G=)
c.314-1349G= (n.314-1349G=)
n.464-4G=
n.431-4G=
19g.11105216G>TCA2582473398LDLRc.572-4G>T (n.572-4G>T)
c.314-4G>T (n.314-4G>T)
c.568-4G>T
c.314-2176G>T (n.314-2176G>T)
c.191-4G>T (n.191-4G>T)
c.314-1349G>T (n.314-1349G>T)
n.464-4G>T
n.431-4G>T
 ClinVar gnomAD v4
19g.11105217C>ACA632115393LDLRc.572-3C>A (n.572-3C>A)
c.314-3C>A (n.314-3C>A)
c.568-3C>A
c.314-2175C>A (n.314-2175C>A)
c.191-3C>A (n.191-3C>A)
c.314-1348C>A (n.314-1348C>A)
n.464-3C>A
n.431-3C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105217C=CA2322767266LDLRc.572-3C= (n.572-3C=)
c.314-3C= (n.314-3C=)
c.568-3C=
c.314-2175C= (n.314-2175C=)
c.191-3C= (n.191-3C=)
c.314-1348C= (n.314-1348C=)
n.464-3C=
n.431-3C=
19g.11105217C>TCA10584847LDLRc.572-3C>T (n.572-3C>T)
c.314-3C>T (n.314-3C>T)
c.568-3C>T
c.314-2175C>T (n.314-2175C>T)
c.191-3C>T (n.191-3C>T)
c.314-1348C>T (n.314-1348C>T)
n.464-3C>T
n.431-3C>T
 ClinVar dbSNP gnomAD v4
19g.11105218_11105223dupCA2741611832LDLRc.572-2_575dup
c.314-2_317dup
c.568-2_571dup
c.314-2174_314-2169dup (n.314-2174_314-2169dup)
c.191-2_194dup
c.314-1347_314-1342dup (n.314-1347_314-1342dup)
n.464-2_467dup
n.431-2_434dup
19g.11105218A=CA2322767267LDLRc.572-2A= (n.572-2A=)
c.314-2A= (n.314-2A=)
c.568-2A=
c.314-2174A= (n.314-2174A=)
c.191-2A= (n.191-2A=)
c.314-1347A= (n.314-1347A=)
n.464-2A=
n.431-2A=
19g.11105218A>CCA10584848LDLRc.572-2A>C (n.572-2A>C)
c.314-2A>C (n.314-2A>C)
c.568-2A>C
c.314-2174A>C (n.314-2174A>C)
c.191-2A>C (n.191-2A>C)
c.314-1347A>C (n.314-1347A>C)
n.464-2A>C
n.431-2A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11105218A>GCA404076200LDLRc.572-2A>G (n.572-2A>G)
c.314-2A>G (n.314-2A>G)
c.568-2A>G
c.314-2174A>G (n.314-2174A>G)
c.191-2A>G (n.191-2A>G)
c.314-1347A>G (n.314-1347A>G)
n.464-2A>G
n.431-2A>G
 ClinVar
19g.11105218A>TCA16602296LDLRc.572-2A>T (n.572-2A>T)
c.314-2A>T (n.314-2A>T)
c.568-2A>T
c.314-2174A>T (n.314-2174A>T)
c.191-2A>T (n.191-2A>T)
c.314-1347A>T (n.314-1347A>T)
n.464-2A>T
n.431-2A>T
 ClinVar dbSNP
19g.11105219delCA2497030185LDLRc.572-1del (n.572-1del)
c.314-1del (n.314-1del)
c.568-1del
c.314-2173del (n.314-2173del)
c.191-1del (n.191-1del)
c.314-1346del (n.314-1346del)
n.464-1del
n.431-1del
19g.11105219G>ACA10584849LDLRc.572-1G>A (n.572-1G>A)
c.314-1G>A (n.314-1G>A)
c.568-1G>A
c.314-2173G>A (n.314-2173G>A)
c.191-1G>A (n.191-1G>A)
c.314-1346G>A (n.314-1346G>A)
n.464-1G>A
n.431-1G>A
 ClinVar dbSNP
19g.11105219G>CCA404076201LDLRc.572-1G>C (n.572-1G>C)
c.314-1G>C (n.314-1G>C)
c.568-1G>C
c.314-2173G>C (n.314-2173G>C)
c.191-1G>C (n.191-1G>C)
c.314-1346G>C (n.314-1346G>C)
n.464-1G>C
n.431-1G>C
 COSMIC
19g.11105219G=CA2322767269LDLRc.572-1G= (n.572-1G=)
c.314-1G= (n.314-1G=)
c.568-1G=
c.314-2173G= (n.314-2173G=)
c.191-1G= (n.191-1G=)
c.314-1346G= (n.314-1346G=)
n.464-1G=
n.431-1G=
19g.11105219G>TCA404076202LDLRc.572-1G>T (n.572-1G>T)
c.314-1G>T (n.314-1G>T)
c.568-1G>T
c.314-2173G>T (n.314-2173G>T)
c.191-1G>T (n.191-1G>T)
c.314-1346G>T (n.314-1346G>T)
n.464-1G>T
n.431-1G>T
 ClinVar dbSNP gnomAD v4
19g.11105219_11105220delinsGCCA2322767268LDLRc.572-1_572delinsGC
c.314-1_314delinsGC
c.568-1_568delinsGC
c.314-2173_314-2172delinsGC (n.314-2173_314-2172delinsGC)
c.191-1_191delinsGC
c.314-1346_314-1345delinsGC (n.314-1346_314-1345delinsGC)
n.464-1_464delinsGC
n.431-1_431delinsGC
19g.11105220C>ACA404076203LDLRc.572C>A (p.Pro191His)
c.314C>A (p.Pro105His)
c.568C>A
c.314-2172C>A (n.314-2172C>A)
c.191C>A (p.Ser64Tyr)
c.314-1345C>A (n.314-1345C>A)
n.464C>A
n.431C>A
19g.11105220C=CA2322767271LDLRc.572C= (p.Pro191=)
c.314C= (p.Pro105=)
c.568C=
c.314-2172C= (n.314-2172C=)
c.191C= (p.Ser64=)
c.314-1345C= (n.314-1345C=)
n.464C=
n.431C=
19g.11105220C>GCA404076204LDLRc.572C>G (p.Pro191Arg)
c.314C>G (p.Pro105Arg)
c.568C>G
c.314-2172C>G (n.314-2172C>G)
c.191C>G (p.Ser64Cys)
c.314-1345C>G (n.314-1345C>G)
n.464C>G
n.431C>G
19g.11105220C>TCA023692LDLRc.572C>T (p.Pro191Leu)
c.314C>T (p.Pro105Leu)
c.568C>T
c.314-2172C>T (n.314-2172C>T)
c.191C>T (p.Ser64Phe)
c.314-1345C>T (n.314-1345C>T)
n.464C>T
n.431C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105224dupCA10584851LDLRc.576dup (p.Lys193GlnfsTer23)
c.318dup (p.Lys107GlnfsTer23)
c.572dup
c.314-2168dup (n.314-2168dup)
c.195dup (p.Lys66GlnfsTer23)
c.314-1341dup (n.314-1341dup)
n.468dup
n.435dup
 ClinVar dbSNP
19g.11105224delCA10576278LDLRc.576del (p.Lys193ArgfsTer?)
c.318del (p.Lys107ArgfsTer?)
c.572del
c.314-2168del (n.314-2168del)
c.195del (p.Lys66ArgfsTer?)
c.314-1341del (n.314-1341del)
n.468del
n.435del
 ClinVar dbSNP gnomAD v4
19g.11105220_11105241delinsCCCCCAAGACGTGCTCCCAGGACA2322767270LDLRc.572_593delinsCCCCCAAGACGTGCTCCCAGGA (p.Pro191=)
c.314_335delinsCCCCCAAGACGTGCTCCCAGGA (p.Pro105=)
c.568_589delinsCCCCCAAGACGTGCTCCCAGGA
c.314-2172_314-2151delinsCCCCCAAGACGTGCTCCCAGGA (n.314-2172_314-2151delinsCCCCCAAGACGTGCTCCCAGGA)
c.191_212delinsCCCCCAAGACGTGCTCCCAGGA (p.Ser64=)
c.314-1345_314-1324delinsCCCCCAAGACGTGCTCCCAGGA (n.314-1345_314-1324delinsCCCCCAAGACGTGCTCCCAGGA)
n.464_485delinsCCCCCAAGACGTGCTCCCAGGA
n.431_452delinsCCCCCAAGACGTGCTCCCAGGA
19g.11105221C>ACA505742123LDLRc.573C>A (p.Pro191=)
c.315C>A (p.Pro105=)
c.569C>A
c.314-2171C>A (n.314-2171C>A)
c.192C>A (p.Ser64=)
c.314-1344C>A (n.314-1344C>A)
n.465C>A
n.432C>A
19g.11105221C>GCA505742124LDLRc.573C>G (p.Pro191=)
c.315C>G (p.Pro105=)
c.569C>G
c.314-2171C>G (n.314-2171C>G)
c.192C>G (p.Ser64=)
c.314-1344C>G (n.314-1344C>G)
n.465C>G
n.432C>G
19g.11105221C>TCA505742125LDLRc.573C>T (p.Pro191=)
c.315C>T (p.Pro105=)
c.569C>T
c.314-2171C>T (n.314-2171C>T)
c.192C>T (p.Ser64=)
c.314-1344C>T (n.314-1344C>T)
n.465C>T
n.432C>T
 gnomAD v4
19g.11105221_11105234delinsCCCCAAGACGTGCTCA2322767272LDLRc.573_586delinsCCCCAAGACGTGCT (p.Pro191=)
c.315_328delinsCCCCAAGACGTGCT (p.Pro105=)
c.569_582delinsCCCCAAGACGTGCT
c.314-2171_314-2158delinsCCCCAAGACGTGCT (n.314-2171_314-2158delinsCCCCAAGACGTGCT)
c.192_205delinsCCCCAAGACGTGCT (p.Ser64=)
c.314-1344_314-1331delinsCCCCAAGACGTGCT (n.314-1344_314-1331delinsCCCCAAGACGTGCT)
n.465_478delinsCCCCAAGACGTGCT
n.432_445delinsCCCCAAGACGTGCT
19g.11105222_11105242delCA10584850LDLRc.574_594del (p.Pro192_Asp198del)
c.316_336del (p.Pro106_Asp112del)
c.570_590del
c.314-2170_314-2150del (n.314-2170_314-2150del)
c.193_213del (p.Pro65_Asp71del)
c.314-1343_314-1323del (n.314-1343_314-1323del)
n.466_486del
n.433_453del
 ClinVar dbSNP
19g.11105222C>ACA404076205LDLRc.574C>A (p.Pro192Thr)
c.316C>A (p.Pro106Thr)
c.570C>A
c.314-2170C>A (n.314-2170C>A)
c.193C>A (p.Pro65Thr)
c.314-1343C>A (n.314-1343C>A)
n.466C>A
n.433C>A
19g.11105222C>GCA404076206LDLRc.574C>G (p.Pro192Ala)
c.316C>G (p.Pro106Ala)
c.570C>G
c.314-2170C>G (n.314-2170C>G)
c.193C>G (p.Pro65Ala)
c.314-1343C>G (n.314-1343C>G)
n.466C>G
n.433C>G
19g.11105222C>TCA404076207LDLRc.574C>T (p.Pro192Ser)
c.316C>T (p.Pro106Ser)
c.570C>T
c.314-2170C>T (n.314-2170C>T)
c.193C>T (p.Pro65Ser)
c.314-1343C>T (n.314-1343C>T)
n.466C>T
n.433C>T
19g.11105226_11105238delCA10584852LDLRc.578_590del (p.Lys193ArgfsTer?)
c.320_332del (p.Lys107ArgfsTer?)
c.574_586del
c.314-2166_314-2154del (n.314-2166_314-2154del)
c.197_209del (p.Lys66ArgfsTer?)
c.314-1339_314-1327del (n.314-1339_314-1327del)
n.470_482del
n.437_449del
 ClinVar dbSNP
19g.11105222_11105241delinsCCCAAGACGTGCTCCCAGGACA2322767273LDLRc.574_593delinsCCCAAGACGTGCTCCCAGGA (p.Pro192=)
c.316_335delinsCCCAAGACGTGCTCCCAGGA (p.Pro106=)
c.570_589delinsCCCAAGACGTGCTCCCAGGA
c.314-2170_314-2151delinsCCCAAGACGTGCTCCCAGGA (n.314-2170_314-2151delinsCCCAAGACGTGCTCCCAGGA)
c.193_212delinsCCCAAGACGTGCTCCCAGGA (p.Pro65=)
c.314-1343_314-1324delinsCCCAAGACGTGCTCCCAGGA (n.314-1343_314-1324delinsCCCAAGACGTGCTCCCAGGA)
n.466_485delinsCCCAAGACGTGCTCCCAGGA
n.433_452delinsCCCAAGACGTGCTCCCAGGA
19g.11105223C>ACA404076210LDLRc.575C>A (p.Pro192His)
c.317C>A (p.Pro106His)
c.571C>A
c.314-2169C>A (n.314-2169C>A)
c.194C>A (p.Pro65His)
c.314-1342C>A (n.314-1342C>A)
n.467C>A
n.434C>A
19g.11105223C=CA2322767274LDLRc.575C= (p.Pro192=)
c.317C= (p.Pro106=)
c.571C=
c.314-2169C= (n.314-2169C=)
c.194C= (p.Pro65=)
c.314-1342C= (n.314-1342C=)
n.467C=
n.434C=
19g.11105223C>GCA404076209LDLRc.575C>G (p.Pro192Arg)
c.317C>G (p.Pro106Arg)
c.571C>G
c.314-2169C>G (n.314-2169C>G)
c.194C>G (p.Pro65Arg)
c.314-1342C>G (n.314-1342C>G)
n.467C>G
n.434C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105223C>TCA404076208LDLRc.575C>T (p.Pro192Leu)
c.317C>T (p.Pro106Leu)
c.571C>T
c.314-2169C>T (n.314-2169C>T)
c.194C>T (p.Pro65Leu)
c.314-1342C>T (n.314-1342C>T)
n.467C>T
n.434C>T
 ClinVar gnomAD v4
19g.11105224_11105242delCA645373222LDLRc.576_594del (p.Lys193SerfsTer?)
c.318_336del (p.Lys107SerfsTer?)
c.572_590del
c.314-2168_314-2150del (n.314-2168_314-2150del)
c.195_213del (p.Lys66SerfsTer?)
c.314-1341_314-1323del (n.314-1341_314-1323del)
n.468_486del
n.435_453del
 ClinVar dbSNP
19g.11105224C>ACA505742132LDLRc.576C>A (p.Pro192=)
c.318C>A (p.Pro106=)
c.572C>A
c.314-2168C>A (n.314-2168C>A)
c.195C>A (p.Pro65=)
c.314-1341C>A (n.314-1341C>A)
n.468C>A
n.435C>A
19g.11105224C=CA2322767275LDLRc.576C= (p.Pro192=)
c.318C= (p.Pro106=)
c.572C=
c.314-2168C= (n.314-2168C=)
c.195C= (p.Pro65=)
c.314-1341C= (n.314-1341C=)
n.468C=
n.435C=
19g.11105224C>GCA505742130LDLRc.576C>G (p.Pro192=)
c.318C>G (p.Pro106=)
c.572C>G
c.314-2168C>G (n.314-2168C>G)
c.195C>G (p.Pro65=)
c.314-1341C>G (n.314-1341C>G)
n.468C>G
n.435C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105224C>TCA505742131LDLRc.576C>T (p.Pro192=)
c.318C>T (p.Pro106=)
c.572C>T
c.314-2168C>T (n.314-2168C>T)
c.195C>T (p.Pro65=)
c.314-1341C>T (n.314-1341C>T)
n.468C>T
n.435C>T
19g.11105225A>CCA404076211LDLRc.577A>C (p.Lys193Gln)
c.319A>C (p.Lys107Gln)
c.573A>C
c.314-2167A>C (n.314-2167A>C)
c.196A>C (p.Lys66Gln)
c.314-1340A>C (n.314-1340A>C)
n.469A>C
n.436A>C
19g.11105225A>GCA404076212LDLRc.577A>G (p.Lys193Glu)
c.319A>G (p.Lys107Glu)
c.573A>G
c.314-2167A>G (n.314-2167A>G)
c.196A>G (p.Lys66Glu)
c.314-1340A>G (n.314-1340A>G)
n.469A>G
n.436A>G
19g.11105225A>TCA404076213LDLRc.577A>T (p.Lys193Ter)
c.319A>T (p.Lys107Ter)
c.573A>T
c.314-2167A>T (n.314-2167A>T)
c.196A>T (p.Lys66Ter)
c.314-1340A>T (n.314-1340A>T)
n.469A>T
n.436A>T
19g.11105225_11105226delCA2573155725LDLRc.577_578del (p.Lys193AspfsTer22)
c.319_320del (p.Lys107AspfsTer22)
c.573_574del
c.314-2167_314-2166del (n.314-2167_314-2166del)
c.196_197del (p.Lys66AspfsTer22)
c.314-1340_314-1339del (n.314-1340_314-1339del)
n.469_470del
n.436_437del
 dbSNP
19g.11105226dupCA10584853LDLRc.578dup (p.Thr194AspfsTer22)
c.320dup (p.Thr108AspfsTer22)
c.574dup
c.314-2166dup (n.314-2166dup)
c.197dup (p.Thr67AspfsTer22)
c.314-1339dup (n.314-1339dup)
n.470dup
n.437dup
 ClinVar dbSNP
19g.11105226delCA2580096409LDLRc.578del (p.Lys193ArgfsTer?)
c.320del (p.Lys107ArgfsTer?)
c.574del
c.314-2166del (n.314-2166del)
c.197del (p.Lys66ArgfsTer?)
c.314-1339del (n.314-1339del)
n.470del
n.437del
 ClinVar
19g.11105226A>CCA404076214LDLRc.578A>C (p.Lys193Thr)
c.320A>C (p.Lys107Thr)
c.574A>C
c.314-2166A>C (n.314-2166A>C)
c.197A>C (p.Lys66Thr)
c.314-1339A>C (n.314-1339A>C)
n.470A>C
n.437A>C
19g.11105226A>GCA404076215LDLRc.578A>G (p.Lys193Arg)
c.320A>G (p.Lys107Arg)
c.574A>G
c.314-2166A>G (n.314-2166A>G)
c.197A>G (p.Lys66Arg)
c.314-1339A>G (n.314-1339A>G)
n.470A>G
n.437A>G
19g.11105226A>TCA404076216LDLRc.578A>T (p.Lys193Met)
c.320A>T (p.Lys107Met)
c.574A>T
c.314-2166A>T (n.314-2166A>T)
c.197A>T (p.Lys66Met)
c.314-1339A>T (n.314-1339A>T)
n.470A>T
n.437A>T
19g.11105226_11105239delinsAGACGTGCTCCCAGCA2322767276LDLRc.578_591delinsAGACGTGCTCCCAG (p.Lys193=)
c.320_333delinsAGACGTGCTCCCAG (p.Lys107=)
c.574_587delinsAGACGTGCTCCCAG
c.314-2166_314-2153delinsAGACGTGCTCCCAG (n.314-2166_314-2153delinsAGACGTGCTCCCAG)
c.197_210delinsAGACGTGCTCCCAG (p.Lys66=)
c.314-1339_314-1326delinsAGACGTGCTCCCAG (n.314-1339_314-1326delinsAGACGTGCTCCCAG)
n.470_483delinsAGACGTGCTCCCAG
n.437_450delinsAGACGTGCTCCCAG
19g.11105227G>ACA505742133LDLRc.579G>A (p.Lys193=)
c.321G>A (p.Lys107=)
c.575G>A
c.314-2165G>A (n.314-2165G>A)
c.198G>A (p.Lys66=)
c.314-1338G>A (n.314-1338G>A)
n.471G>A
n.438G>A
19g.11105227G>CCA404076217LDLRc.579G>C (p.Lys193Asn)
c.321G>C (p.Lys107Asn)
c.575G>C
c.314-2165G>C (n.314-2165G>C)
c.198G>C (p.Lys66Asn)
c.314-1338G>C (n.314-1338G>C)
n.471G>C
n.438G>C
19g.11105227G>TCA404076218LDLRc.579G>T (p.Lys193Asn)
c.321G>T (p.Lys107Asn)
c.575G>T
c.314-2165G>T (n.314-2165G>T)
c.198G>T (p.Lys66Asn)
c.314-1338G>T (n.314-1338G>T)
n.471G>T
n.438G>T
 gnomAD v4
19g.11105231_11105243delCA10584856LDLRc.583_595del (p.Cys195SerfsTer?)
c.325_337del (p.Cys109SerfsTer?)
c.579_591del
c.314-2161_314-2149del (n.314-2161_314-2149del)
c.202_214del (p.Cys68SerfsTer?)
c.314-1334_314-1322del (n.314-1334_314-1322del)
n.475_487del
n.442_454del
 ClinVar dbSNP
19g.11105228A>CCA404076219LDLRc.580A>C (p.Thr194Pro)
c.322A>C (p.Thr108Pro)
c.576A>C
c.314-2164A>C (n.314-2164A>C)
c.199A>C (p.Thr67Pro)
c.314-1337A>C (n.314-1337A>C)
n.472A>C
n.439A>C
19g.11105228A>GCA404076220LDLRc.580A>G (p.Thr194Ala)
c.322A>G (p.Thr108Ala)
c.576A>G
c.314-2164A>G (n.314-2164A>G)
c.199A>G (p.Thr67Ala)
c.314-1337A>G (n.314-1337A>G)
n.472A>G
n.439A>G
19g.11105228A>TCA404076221LDLRc.580A>T (p.Thr194Ser)
c.322A>T (p.Thr108Ser)
c.576A>T
c.314-2164A>T (n.314-2164A>T)
c.199A>T (p.Thr67Ser)
c.314-1337A>T (n.314-1337A>T)
n.472A>T
n.439A>T
19g.11105229C>ACA404076223LDLRc.581C>A (p.Thr194Lys)
c.323C>A (p.Thr108Lys)
c.577C>A
c.314-2163C>A (n.314-2163C>A)
c.200C>A (p.Thr67Lys)
c.314-1336C>A (n.314-1336C>A)
n.473C>A
n.440C>A
 ClinVar dbSNP
19g.11105229C=CA2322767277LDLRc.581C= (p.Thr194=)
c.323C= (p.Thr108=)
c.577C=
c.314-2163C= (n.314-2163C=)
c.200C= (p.Thr67=)
c.314-1336C= (n.314-1336C=)
n.473C=
n.440C=
19g.11105229C>GCA404076222LDLRc.581C>G (p.Thr194Arg)
c.323C>G (p.Thr108Arg)
c.577C>G
c.314-2163C>G (n.314-2163C>G)
c.200C>G (p.Thr67Arg)
c.314-1336C>G (n.314-1336C>G)
n.473C>G
n.440C>G
19g.11105229C>TCA043057LDLRc.581C>T (p.Thr194Met)
c.323C>T (p.Thr108Met)
c.577C>T
c.314-2163C>T (n.314-2163C>T)
c.200C>T (p.Thr67Met)
c.314-1336C>T (n.314-1336C>T)
n.473C>T
n.440C>T
 ClinVar dbSNP ExAC gnomAD v4 COSMIC
19g.11105229_11105230insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTCA2582473420LDLRc.581_582insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT (p.Cys195GlyfsTer8)
c.323_324insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT (p.Cys109GlyfsTer8)
c.577_578insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT
c.314-2163_314-2162insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT (n.314-2163_314-2162insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT)
c.200_201insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT (p.Cys68GlyfsTer8)
c.314-1336_314-1335insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT (n.314-1336_314-1335insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT)
n.473_474insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT
n.440_441insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT
 gnomAD v4
19g.11105230G>ACA043072LDLRc.582G>A (p.Thr194=)
c.324G>A (p.Thr108=)
c.578G>A
c.314-2162G>A (n.314-2162G>A)
c.201G>A (p.Thr67=)
c.314-1335G>A (n.314-1335G>A)
n.474G>A
n.441G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105230G>CCA043084LDLRc.582G>C (p.Thr194=)
c.324G>C (p.Thr108=)
c.578G>C
c.314-2162G>C (n.314-2162G>C)
c.201G>C (p.Thr67=)
c.314-1335G>C (n.314-1335G>C)
n.474G>C
n.441G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105230G=CA2322767278LDLRc.582G= (p.Thr194=)
c.324G= (p.Thr108=)
c.578G=
c.314-2162G= (n.314-2162G=)
c.201G= (p.Thr67=)
c.314-1335G= (n.314-1335G=)
n.474G=
n.441G=
19g.11105230G>TCA10587293LDLRc.582G>T (p.Thr194=)
c.324G>T (p.Thr108=)
c.578G>T
c.314-2162G>T (n.314-2162G>T)
c.201G>T (p.Thr67=)
c.314-1335G>T (n.314-1335G>T)
n.474G>T
n.441G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105230_11105231delinsGTCA2322767279LDLRc.582_583delinsGT (p.Thr194=)
c.324_325delinsGT (p.Thr108=)
c.578_579delinsGT
c.314-2162_314-2161delinsGT (n.314-2162_314-2161delinsGT)
c.201_202delinsGT (p.Thr67=)
c.314-1335_314-1334delinsGT (n.314-1335_314-1334delinsGT)
n.474_475delinsGT
n.441_442delinsGT
19g.11105230_11105231delinsTCCA10584854LDLRc.582_583delinsTC (p.Cys195Arg)
c.324_325delinsTC (p.Cys109Arg)
c.578_579delinsTC
c.314-2162_314-2161delinsTC (n.314-2162_314-2161delinsTC)
c.201_202delinsTC (p.Cys68Arg)
c.314-1335_314-1334delinsTC (n.314-1335_314-1334delinsTC)
n.474_475delinsTC
n.441_442delinsTC
 ClinVar dbSNP
19g.11105231T>ACA404076224LDLRc.583T>A (p.Cys195Ser)
c.325T>A (p.Cys109Ser)
c.579T>A
c.314-2161T>A (n.314-2161T>A)
c.202T>A (p.Cys68Ser)
c.314-1334T>A (n.314-1334T>A)
n.475T>A
n.442T>A
19g.11105231T>CCA10584855LDLRc.583T>C (p.Cys195Arg)
c.325T>C (p.Cys109Arg)
c.579T>C
c.314-2161T>C (n.314-2161T>C)
c.202T>C (p.Cys68Arg)
c.314-1334T>C (n.314-1334T>C)
n.475T>C
n.442T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105231T>GCA404076225LDLRc.583T>G (p.Cys195Gly)
c.325T>G (p.Cys109Gly)
c.579T>G
c.314-2161T>G (n.314-2161T>G)
c.202T>G (p.Cys68Gly)
c.314-1334T>G (n.314-1334T>G)
n.475T>G
n.442T>G
 ClinVar dbSNP
19g.11105231T=CA2322767280LDLRc.583T= (p.Cys195=)
c.325T= (p.Cys109=)
c.579T=
c.314-2161T= (n.314-2161T=)
c.202T= (p.Cys68=)
c.314-1334T= (n.314-1334T=)
n.475T=
n.442T=
19g.11105232G>ACA043125LDLRc.584G>A (p.Cys195Tyr)
c.326G>A (p.Cys109Tyr)
c.580G>A
c.314-2160G>A (n.314-2160G>A)
c.203G>A (p.Cys68Tyr)
c.314-1333G>A (n.314-1333G>A)
n.476G>A
n.443G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105232G>CCA023694LDLRc.584G>C (p.Cys195Ser)
c.326G>C (p.Cys109Ser)
c.580G>C
c.314-2160G>C (n.314-2160G>C)
c.203G>C (p.Cys68Ser)
c.314-1333G>C (n.314-1333G>C)
n.476G>C
n.443G>C
 ClinVar dbSNP
19g.11105232G=CA2322767281LDLRc.584G= (p.Cys195=)
c.326G= (p.Cys109=)
c.580G=
c.314-2160G= (n.314-2160G=)
c.203G= (p.Cys68=)
c.314-1333G= (n.314-1333G=)
n.476G=
n.443G=
19g.11105232G>TCA10584857LDLRc.584G>T (p.Cys195Phe)
c.326G>T (p.Cys109Phe)
c.580G>T
c.314-2160G>T (n.314-2160G>T)
c.203G>T (p.Cys68Phe)
c.314-1333G>T (n.314-1333G>T)
n.476G>T
n.443G>T
 ClinVar dbSNP gnomAD v4
19g.11105233C>ACA16602297LDLRc.585C>A (p.Cys195Ter)
c.327C>A (p.Cys109Ter)
c.581C>A
c.314-2159C>A (n.314-2159C>A)
c.204C>A (p.Cys68Ter)
c.314-1332C>A (n.314-1332C>A)
n.477C>A
n.444C>A
 ClinVar dbSNP
19g.11105233C=CA2322767282LDLRc.585C= (p.Cys195=)
c.327C= (p.Cys109=)
c.581C=
c.314-2159C= (n.314-2159C=)
c.204C= (p.Cys68=)
c.314-1332C= (n.314-1332C=)
n.477C=
n.444C=
19g.11105233C>GCA404076226LDLRc.585C>G (p.Cys195Trp)
c.327C>G (p.Cys109Trp)
c.581C>G
c.314-2159C>G (n.314-2159C>G)
c.204C>G (p.Cys68Trp)
c.314-1332C>G (n.314-1332C>G)
n.477C>G
n.444C>G
19g.11105233C>TCA505742141LDLRc.585C>T (p.Cys195=)
c.327C>T (p.Cys109=)
c.581C>T
c.314-2159C>T (n.314-2159C>T)
c.204C>T (p.Cys68=)
c.314-1332C>T (n.314-1332C>T)
n.477C>T
n.444C>T
19g.11105233dupCA10584858LDLRc.585dup (p.Ser196LeufsTer20)
c.327dup (p.Ser110LeufsTer20)
c.581dup
c.314-2159dup (n.314-2159dup)
c.204dup (p.Ser69LeufsTer20)
c.314-1332dup (n.314-1332dup)
n.477dup
n.444dup
 ClinVar dbSNP
19g.11105234T>ACA404076227LDLRc.586T>A (p.Ser196Thr)
c.328T>A (p.Ser110Thr)
c.582T>A
c.314-2158T>A (n.314-2158T>A)
c.205T>A (p.Ser69Thr)
c.314-1331T>A (n.314-1331T>A)
n.478T>A
n.445T>A
 COSMIC
19g.11105234T>CCA404076228LDLRc.586T>C (p.Ser196Pro)
c.328T>C (p.Ser110Pro)
c.582T>C
c.314-2158T>C (n.314-2158T>C)
c.205T>C (p.Ser69Pro)
c.314-1331T>C (n.314-1331T>C)
n.478T>C
n.445T>C
19g.11105234T>GCA404076229LDLRc.586T>G (p.Ser196Ala)
c.328T>G (p.Ser110Ala)
c.582T>G
c.314-2158T>G (n.314-2158T>G)
c.205T>G (p.Ser69Ala)
c.314-1331T>G (n.314-1331T>G)
n.478T>G
n.445T>G
19g.11105235C>ACA404076230LDLRc.587C>A (p.Ser196Tyr)
c.329C>A (p.Ser110Tyr)
c.583C>A
c.314-2157C>A (n.314-2157C>A)
c.206C>A (p.Ser69Tyr)
c.314-1330C>A (n.314-1330C>A)
n.479C>A
n.446C>A
19g.11105235C>GCA404076231LDLRc.587C>G (p.Ser196Cys)
c.329C>G (p.Ser110Cys)
c.583C>G
c.314-2157C>G (n.314-2157C>G)
c.206C>G (p.Ser69Cys)
c.314-1330C>G (n.314-1330C>G)
n.479C>G
n.446C>G
19g.11105235C>TCA404076232LDLRc.587C>T (p.Ser196Phe)
c.329C>T (p.Ser110Phe)
c.583C>T
c.314-2157C>T (n.314-2157C>T)
c.206C>T (p.Ser69Phe)
c.314-1330C>T (n.314-1330C>T)
n.479C>T
n.446C>T
19g.11105236C>ACA505742144LDLRc.588C>A (p.Ser196=)
c.330C>A (p.Ser110=)
c.584C>A
c.314-2156C>A (n.314-2156C>A)
c.207C>A (p.Ser69=)
c.314-1329C>A (n.314-1329C>A)
n.480C>A
n.447C>A
19g.11105236C=CA2322767283LDLRc.588C= (p.Ser196=)
c.330C= (p.Ser110=)
c.584C=
c.314-2156C= (n.314-2156C=)
c.207C= (p.Ser69=)
c.314-1329C= (n.314-1329C=)
n.480C=
n.447C=
19g.11105236C>GCA043138LDLRc.588C>G (p.Ser196=)
c.330C>G (p.Ser110=)
c.584C>G
c.314-2156C>G (n.314-2156C>G)
c.207C>G (p.Ser69=)
c.314-1329C>G (n.314-1329C>G)
n.480C>G
n.447C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105236C>TCA505742147LDLRc.588C>T (p.Ser196=)
c.330C>T (p.Ser110=)
c.584C>T
c.314-2156C>T (n.314-2156C>T)
c.207C>T (p.Ser69=)
c.314-1329C>T (n.314-1329C>T)
n.480C>T
n.447C>T
 ClinVar
19g.11105237C>ACA404076233LDLRc.589C>A (p.Gln197Lys)
c.331C>A (p.Gln111Lys)
c.585C>A
c.314-2155C>A (n.314-2155C>A)
c.208C>A (p.Gln70Lys)
c.314-1328C>A (n.314-1328C>A)
n.481C>A
n.448C>A
19g.11105237C>GCA404076234LDLRc.589C>G (p.Gln197Glu)
c.331C>G (p.Gln111Glu)
c.585C>G
c.314-2155C>G (n.314-2155C>G)
c.208C>G (p.Gln70Glu)
c.314-1328C>G (n.314-1328C>G)
n.481C>G
n.448C>G
19g.11105237C>TCA404076235LDLRc.589C>T (p.Gln197Ter)
c.331C>T (p.Gln111Ter)
c.585C>T
c.314-2155C>T (n.314-2155C>T)
c.208C>T (p.Gln70Ter)
c.314-1328C>T (n.314-1328C>T)
n.481C>T
n.448C>T
 ClinVar dbSNP
19g.11105238A=CA2322767284LDLRc.590A= (p.Gln197=)
c.332A= (p.Gln111=)
c.586A=
c.314-2154A= (n.314-2154A=)
c.209A= (p.Gln70=)
c.314-1327A= (n.314-1327A=)
n.482A=
n.449A=
19g.11105238A>CCA404076236LDLRc.590A>C (p.Gln197Pro)
c.332A>C (p.Gln111Pro)
c.586A>C
c.314-2154A>C (n.314-2154A>C)
c.209A>C (p.Gln70Pro)
c.314-1327A>C (n.314-1327A>C)
n.482A>C
n.449A>C
19g.11105238A>GCA043161LDLRc.590A>G (p.Gln197Arg)
c.332A>G (p.Gln111Arg)
c.586A>G
c.314-2154A>G (n.314-2154A>G)
c.209A>G (p.Gln70Arg)
c.314-1327A>G (n.314-1327A>G)
n.482A>G
n.449A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105238A>TCA404076237LDLRc.590A>T (p.Gln197Leu)
c.332A>T (p.Gln111Leu)
c.586A>T
c.314-2154A>T (n.314-2154A>T)
c.209A>T (p.Gln70Leu)
c.314-1327A>T (n.314-1327A>T)
n.482A>T
n.449A>T
19g.11105239G>ACA505742149LDLRc.591G>A (p.Gln197=)
c.333G>A (p.Gln111=)
c.587G>A
c.314-2153G>A (n.314-2153G>A)
c.210G>A (p.Gln70=)
c.314-1326G>A (n.314-1326G>A)
n.483G>A
n.450G>A
19g.11105239G>CCA404076238LDLRc.591G>C (p.Gln197His)
c.333G>C (p.Gln111His)
c.587G>C
c.314-2153G>C (n.314-2153G>C)
c.210G>C (p.Gln70His)
c.314-1326G>C (n.314-1326G>C)
n.483G>C
n.450G>C
19g.11105239G>TCA404076239LDLRc.591G>T (p.Gln197His)
c.333G>T (p.Gln111His)
c.587G>T
c.314-2153G>T (n.314-2153G>T)
c.210G>T (p.Gln70His)
c.314-1326G>T (n.314-1326G>T)
n.483G>T
n.450G>T
19g.11105239_11105249delinsGGACGAGTTTCCA2322767285LDLRc.591_601delinsGGACGAGTTTC (p.Gln197=)
c.333_343delinsGGACGAGTTTC (p.Gln111=)
c.587_597delinsGGACGAGTTTC
c.314-2153_314-2143delinsGGACGAGTTTC (n.314-2153_314-2143delinsGGACGAGTTTC)
c.210_220delinsGGACGAGTTTC (p.Gln70=)
c.314-1326_314-1316delinsGGACGAGTTTC (n.314-1326_314-1316delinsGGACGAGTTTC)
n.483_493delinsGGACGAGTTTC
n.450_460delinsGGACGAGTTTC
19g.11105240G>ACA404076240LDLRc.592G>A (p.Asp198Asn)
c.334G>A (p.Asp112Asn)
c.588G>A
c.314-2152G>A (n.314-2152G>A)
c.211G>A (p.Asp71Asn)
c.314-1325G>A (n.314-1325G>A)
n.484G>A
n.451G>A
19g.11105240G>CCA404076241LDLRc.592G>C (p.Asp198His)
c.334G>C (p.Asp112His)
c.588G>C
c.314-2152G>C (n.314-2152G>C)
c.211G>C (p.Asp71His)
c.314-1325G>C (n.314-1325G>C)
n.484G>C
n.451G>C
 gnomAD v4
19g.11105240G>TCA404076242LDLRc.592G>T (p.Asp198Tyr)
c.334G>T (p.Asp112Tyr)
c.588G>T
c.314-2152G>T (n.314-2152G>T)
c.211G>T (p.Asp71Tyr)
c.314-1325G>T (n.314-1325G>T)
n.484G>T
n.451G>T
19g.11105241_11105250delCA10584859LDLRc.593_602del (p.Asp198AlafsTer?)
c.335_344del (p.Asp112AlafsTer?)
c.589_598del
c.314-2151_314-2142del (n.314-2151_314-2142del)
c.212_221del (p.Asp71AlafsTer?)
c.314-1324_314-1315del (n.314-1324_314-1315del)
n.485_494del
n.452_461del
 ClinVar dbSNP
19g.11105240_11105255dupCA2580096410LDLRc.592_607dup (p.His203ArgfsTer18)
c.334_349dup (p.His117ArgfsTer18)
c.588_603dup
c.314-2152_314-2137dup (n.314-2152_314-2137dup)
c.211_226dup (p.His76ArgfsTer18)
c.314-1325_314-1310dup (n.314-1325_314-1310dup)
n.484_499dup
n.451_466dup
 ClinVar
19g.11105241A>CCA404076244LDLRc.593A>C (p.Asp198Ala)
c.335A>C (p.Asp112Ala)
c.589A>C
c.314-2151A>C (n.314-2151A>C)
c.212A>C (p.Asp71Ala)
c.314-1324A>C (n.314-1324A>C)
n.485A>C
n.452A>C
19g.11105241A>GCA404076243LDLRc.593A>G (p.Asp198Gly)
c.335A>G (p.Asp112Gly)
c.589A>G
c.314-2151A>G (n.314-2151A>G)
c.212A>G (p.Asp71Gly)
c.314-1324A>G (n.314-1324A>G)
n.485A>G
n.452A>G
19g.11105241A>TCA404076245LDLRc.593A>T (p.Asp198Val)
c.335A>T (p.Asp112Val)
c.589A>T
c.314-2151A>T (n.314-2151A>T)
c.212A>T (p.Asp71Val)
c.314-1324A>T (n.314-1324A>T)
n.485A>T
n.452A>T
19g.11105242delCA2695223190LDLRc.594del (p.Asp198GlufsTer?)
c.336del (p.Asp112GlufsTer?)
c.590del
c.314-2150del (n.314-2150del)
c.213del (p.Asp71GlufsTer?)
c.314-1323del (n.314-1323del)
n.486del
n.453del
19g.11105242C>ACA404076246LDLRc.594C>A (p.Asp198Glu)
c.336C>A (p.Asp112Glu)
c.590C>A
c.314-2150C>A (n.314-2150C>A)
c.213C>A (p.Asp71Glu)
c.314-1323C>A (n.314-1323C>A)
n.486C>A
n.453C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.11105242C=CA2322767286LDLRc.594C= (p.Asp198=)
c.336C= (p.Asp112=)
c.590C=
c.314-2150C= (n.314-2150C=)
c.213C= (p.Asp71=)
c.314-1323C= (n.314-1323C=)
n.486C=
n.453C=
19g.11105242C>GCA404076247LDLRc.594C>G (p.Asp198Glu)
c.336C>G (p.Asp112Glu)
c.590C>G
c.314-2150C>G (n.314-2150C>G)
c.213C>G (p.Asp71Glu)
c.314-1323C>G (n.314-1323C>G)
n.486C>G
n.453C>G
 gnomAD v4
19g.11105242C>TCA043174LDLRc.594C>T (p.Asp198=)
c.336C>T (p.Asp112=)
c.590C>T
c.314-2150C>T (n.314-2150C>T)
c.213C>T (p.Asp71=)
c.314-1323C>T (n.314-1323C>T)
n.486C>T
n.453C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105243G>ACA043209LDLRc.595G>A (p.Glu199Lys)
c.337G>A (p.Glu113Lys)
c.591G>A
c.314-2149G>A (n.314-2149G>A)
c.214G>A (p.Glu72Lys)
c.314-1322G>A (n.314-1322G>A)
n.487G>A
n.454G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105243G>CCA404076248LDLRc.595G>C (p.Glu199Gln)
c.337G>C (p.Glu113Gln)
c.591G>C
c.314-2149G>C (n.314-2149G>C)
c.214G>C (p.Glu72Gln)
c.314-1322G>C (n.314-1322G>C)
n.487G>C
n.454G>C
19g.11105243G=CA2322767287LDLRc.595G= (p.Glu199=)
c.337G= (p.Glu113=)
c.591G=
c.314-2149G= (n.314-2149G=)
c.214G= (p.Glu72=)
c.314-1322G= (n.314-1322G=)
n.487G=
n.454G=
19g.11105243G>TCA10576279LDLRc.595G>T (p.Glu199Ter)
c.337G>T (p.Glu113Ter)
c.591G>T
c.314-2149G>T (n.314-2149G>T)
c.214G>T (p.Glu72Ter)
c.314-1322G>T (n.314-1322G>T)
n.487G>T
n.454G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105243dupCA9204948LDLRc.595dup (p.Glu199GlyfsTer17)
c.337dup (p.Glu113GlyfsTer17)
c.591dup
c.314-2149dup (n.314-2149dup)
c.214dup (p.Glu72GlyfsTer17)
c.314-1322dup (n.314-1322dup)
n.487dup
n.454dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105243_11105259delinsGAGTTTCGCTGCCACGACA2322767288LDLRc.595_611delinsGAGTTTCGCTGCCACGA (p.Glu199=)
c.337_353delinsGAGTTTCGCTGCCACGA (p.Glu113=)
c.591_607delinsGAGTTTCGCTGCCACGA
c.314-2149_314-2133delinsGAGTTTCGCTGCCACGA (n.314-2149_314-2133delinsGAGTTTCGCTGCCACGA)
c.214_230delinsGAGTTTCGCTGCCACGA (p.Glu72=)
c.314-1322_314-1306delinsGAGTTTCGCTGCCACGA (n.314-1322_314-1306delinsGAGTTTCGCTGCCACGA)
n.487_503delinsGAGTTTCGCTGCCACGA
n.454_470delinsGAGTTTCGCTGCCACGA
19g.11105244A=CA2322767289LDLRc.596A= (p.Glu199=)
c.338A= (p.Glu113=)
c.592A=
c.314-2148A= (n.314-2148A=)
c.215A= (p.Glu72=)
c.314-1321A= (n.314-1321A=)
n.488A=
n.455A=
19g.11105244A>CCA404076249LDLRc.596A>C (p.Glu199Ala)
c.338A>C (p.Glu113Ala)
c.592A>C
c.314-2148A>C (n.314-2148A>C)
c.215A>C (p.Glu72Ala)
c.314-1321A>C (n.314-1321A>C)
n.488A>C
n.455A>C
19g.11105244A>GCA404076250LDLRc.596A>G (p.Glu199Gly)
c.338A>G (p.Glu113Gly)
c.592A>G
c.314-2148A>G (n.314-2148A>G)
c.215A>G (p.Glu72Gly)
c.314-1321A>G (n.314-1321A>G)
n.488A>G
n.455A>G
19g.11105244A>TCA404076251LDLRc.596A>T (p.Glu199Val)
c.338A>T (p.Glu113Val)
c.592A>T
c.314-2148A>T (n.314-2148A>T)
c.215A>T (p.Glu72Val)
c.314-1321A>T (n.314-1321A>T)
n.488A>T
n.455A>T
19g.11105244_11105249delinsTCA2695223191LDLRc.596_601delinsT (p.Glu199ValfsTer15)
c.338_343delinsT (p.Glu113ValfsTer15)
c.592_597delinsT
c.314-2148_314-2143delinsT (n.314-2148_314-2143delinsT)
c.215_220delinsT (p.Glu72ValfsTer15)
c.314-1321_314-1316delinsT (n.314-1321_314-1316delinsT)
n.488_493delinsT
n.455_460delinsT
19g.11105244_11105249delinsAGTTTCCA2322767290LDLRc.596_601delinsAGTTTC (p.Glu199=)
c.338_343delinsAGTTTC (p.Glu113=)
c.592_597delinsAGTTTC
c.314-2148_314-2143delinsAGTTTC (n.314-2148_314-2143delinsAGTTTC)
c.215_220delinsAGTTTC (p.Glu72=)
c.314-1321_314-1316delinsAGTTTC (n.314-1321_314-1316delinsAGTTTC)
n.488_493delinsAGTTTC
n.455_460delinsAGTTTC
19g.11105244_11105259delCA10584860LDLRc.596_611del (p.Glu199ValfsTer?)
c.338_353del (p.Glu113ValfsTer?)
c.592_607del
c.314-2148_314-2133del (n.314-2148_314-2133del)
c.215_230del (p.Glu72ValfsTer?)
c.314-1321_314-1306del (n.314-1321_314-1306del)
n.488_503del
n.455_470del
 ClinVar dbSNP
19g.11105245G>ACA505742157LDLRc.597G>A (p.Glu199=)
c.339G>A (p.Glu113=)
c.593G>A
c.314-2147G>A (n.314-2147G>A)
c.216G>A (p.Glu72=)
c.314-1320G>A (n.314-1320G>A)
n.489G>A
n.456G>A
19g.11105245G>CCA404076253LDLRc.597G>C (p.Glu199Asp)
c.339G>C (p.Glu113Asp)
c.593G>C
c.314-2147G>C (n.314-2147G>C)
c.216G>C (p.Glu72Asp)
c.314-1320G>C (n.314-1320G>C)
n.489G>C
n.456G>C
19g.11105245G>TCA404076252LDLRc.597G>T (p.Glu199Asp)
c.339G>T (p.Glu113Asp)
c.593G>T
c.314-2147G>T (n.314-2147G>T)
c.216G>T (p.Glu72Asp)
c.314-1320G>T (n.314-1320G>T)
n.489G>T
n.456G>T
19g.11105245dupCA10584861LDLRc.597dup (p.Phe200ValfsTer16)
c.339dup (p.Phe114ValfsTer16)
c.593dup
c.314-2147dup (n.314-2147dup)
c.216dup (p.Phe73ValfsTer16)
c.314-1320dup (n.314-1320dup)
n.489dup
n.456dup
 ClinVar dbSNP
19g.11105246_11105250delCA10654842LDLRc.598_602del (p.Phe200LeufsTer14)
c.340_344del (p.Phe114LeufsTer14)
c.594_598del
c.314-2146_314-2142del (n.314-2146_314-2142del)
c.217_221del (p.Phe73LeufsTer14)
c.314-1319_314-1315del (n.314-1319_314-1315del)
n.490_494del
n.457_461del
 ClinVar dbSNP
19g.11105246T>ACA305296741LDLRc.598T>A (p.Phe200Ile)
c.340T>A (p.Phe114Ile)
c.594T>A
c.314-2146T>A (n.314-2146T>A)
c.217T>A (p.Phe73Ile)
c.314-1319T>A (n.314-1319T>A)
n.490T>A
n.457T>A
 ClinVar dbSNP gnomAD v4 COSMIC
19g.11105246T>CCA404076254LDLRc.598T>C (p.Phe200Leu)
c.340T>C (p.Phe114Leu)
c.594T>C
c.314-2146T>C (n.314-2146T>C)
c.217T>C (p.Phe73Leu)
c.314-1319T>C (n.314-1319T>C)
n.490T>C
n.457T>C
19g.11105246T>GCA404076255LDLRc.598T>G (p.Phe200Val)
c.340T>G (p.Phe114Val)
c.594T>G
c.314-2146T>G (n.314-2146T>G)
c.217T>G (p.Phe73Val)
c.314-1319T>G (n.314-1319T>G)
n.490T>G
n.457T>G
19g.11105246T=CA2322767291LDLRc.598T= (p.Phe200=)
c.340T= (p.Phe114=)
c.594T=
c.314-2146T= (n.314-2146T=)
c.217T= (p.Phe73=)
c.314-1319T= (n.314-1319T=)
n.490T=
n.457T=
19g.11105247T>ACA404076256LDLRc.599T>A (p.Phe200Tyr)
c.341T>A (p.Phe114Tyr)
c.595T>A
c.314-2145T>A (n.314-2145T>A)
c.218T>A (p.Phe73Tyr)
c.314-1318T>A (n.314-1318T>A)
n.491T>A
n.458T>A
19g.11105247T>CCA404076257LDLRc.599T>C (p.Phe200Ser)
c.341T>C (p.Phe114Ser)
c.595T>C
c.314-2145T>C (n.314-2145T>C)
c.218T>C (p.Phe73Ser)
c.314-1318T>C (n.314-1318T>C)
n.491T>C
n.458T>C
19g.11105247T>GCA404076258LDLRc.599T>G (p.Phe200Cys)
c.341T>G (p.Phe114Cys)
c.595T>G
c.314-2145T>G (n.314-2145T>G)
c.218T>G (p.Phe73Cys)
c.314-1318T>G (n.314-1318T>G)
n.491T>G
n.458T>G
19g.11105248T>ACA404076259LDLRc.600T>A (p.Phe200Leu)
c.342T>A (p.Phe114Leu)
c.596T>A
c.314-2144T>A (n.314-2144T>A)
c.219T>A (p.Phe73Leu)
c.314-1317T>A (n.314-1317T>A)
n.492T>A
n.459T>A
19g.11105248T>CCA505742162LDLRc.600T>C (p.Phe200=)
c.342T>C (p.Phe114=)
c.596T>C
c.314-2144T>C (n.314-2144T>C)
c.219T>C (p.Phe73=)
c.314-1317T>C (n.314-1317T>C)
n.492T>C
n.459T>C
19g.11105248T>GCA404076260LDLRc.600T>G (p.Phe200Leu)
c.342T>G (p.Phe114Leu)
c.596T>G
c.314-2144T>G (n.314-2144T>G)
c.219T>G (p.Phe73Leu)
c.314-1317T>G (n.314-1317T>G)
n.492T>G
n.459T>G
19g.11105249C>ACA404076261LDLRc.601C>A (p.Arg201Ser)
c.343C>A (p.Arg115Ser)
c.597C>A
c.314-2143C>A (n.314-2143C>A)
c.220C>A (p.Arg74Ser)
c.314-1316C>A (n.314-1316C>A)
n.493C>A
n.460C>A
19g.11105249C=CA2322767292LDLRc.601C= (p.Arg201=)
c.343C= (p.Arg115=)
c.597C=
c.314-2143C= (n.314-2143C=)
c.220C= (p.Arg74=)
c.314-1316C= (n.314-1316C=)
n.493C=
n.460C=
19g.11105249C>GCA404076262LDLRc.601C>G (p.Arg201Gly)
c.343C>G (p.Arg115Gly)
c.597C>G
c.314-2143C>G (n.314-2143C>G)
c.220C>G (p.Arg74Gly)
c.314-1316C>G (n.314-1316C>G)
n.493C>G
n.460C>G
19g.11105249C>TCA043225LDLRc.601C>T (p.Arg201Cys)
c.343C>T (p.Arg115Cys)
c.597C>T
c.314-2143C>T (n.314-2143C>T)
c.220C>T (p.Arg74Cys)
c.314-1316C>T (n.314-1316C>T)
n.493C>T
n.460C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.11105250G>ACA043240LDLRc.602G>A (p.Arg201His)
c.344G>A (p.Arg115His)
c.598G>A
c.314-2142G>A (n.314-2142G>A)
c.221G>A (p.Arg74His)
c.314-1315G>A (n.314-1315G>A)
n.494G>A
n.461G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105250G>CCA404076264LDLRc.602G>C (p.Arg201Pro)
c.344G>C (p.Arg115Pro)
c.598G>C
c.314-2142G>C (n.314-2142G>C)
c.221G>C (p.Arg74Pro)
c.314-1315G>C (n.314-1315G>C)
n.494G>C
n.461G>C
19g.11105250G=CA2322767293LDLRc.602G= (p.Arg201=)
c.344G= (p.Arg115=)
c.598G=
c.314-2142G= (n.314-2142G=)
c.221G= (p.Arg74=)
c.314-1315G= (n.314-1315G=)
n.494G=
n.461G=
19g.11105250G>TCA404076263LDLRc.602G>T (p.Arg201Leu)
c.344G>T (p.Arg115Leu)
c.598G>T
c.314-2142G>T (n.314-2142G>T)
c.221G>T (p.Arg74Leu)
c.314-1315G>T (n.314-1315G>T)
n.494G>T
n.461G>T
 COSMIC
19g.11105250_11105271delinsGCTGCCACGATGGGAAGTGCATCA2322767294LDLRc.602_623delinsGCTGCCACGATGGGAAGTGCAT (p.Arg201=)
c.344_365delinsGCTGCCACGATGGGAAGTGCAT (p.Arg115=)
c.598_619delinsGCTGCCACGATGGGAAGTGCAT
c.314-2142_314-2121delinsGCTGCCACGATGGGAAGTGCAT (n.314-2142_314-2121delinsGCTGCCACGATGGGAAGTGCAT)
c.221_242delinsGCTGCCACGATGGGAAGTGCAT (p.Arg74=)
c.314-1315_314-1294delinsGCTGCCACGATGGGAAGTGCAT (n.314-1315_314-1294delinsGCTGCCACGATGGGAAGTGCAT)
n.494_515delinsGCTGCCACGATGGGAAGTGCAT
n.461_482delinsGCTGCCACGATGGGAAGTGCAT
19g.11105251C>ACA505742165LDLRc.603C>A (p.Arg201=)
c.345C>A (p.Arg115=)
c.599C>A
c.314-2141C>A (n.314-2141C>A)
c.222C>A (p.Arg74=)
c.314-1314C>A (n.314-1314C>A)
n.495C>A
n.462C>A
19g.11105251C=CA2322767295LDLRc.603C= (p.Arg201=)
c.345C= (p.Arg115=)
c.599C=
c.314-2141C= (n.314-2141C=)
c.222C= (p.Arg74=)
c.314-1314C= (n.314-1314C=)
n.495C=
n.462C=
19g.11105251C>GCA043250LDLRc.603C>G (p.Arg201=)
c.345C>G (p.Arg115=)
c.599C>G
c.314-2141C>G (n.314-2141C>G)
c.222C>G (p.Arg74=)
c.314-1314C>G (n.314-1314C>G)
n.495C>G
n.462C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105251C>TCA505742166LDLRc.603C>T (p.Arg201=)
c.345C>T (p.Arg115=)
c.599C>T
c.314-2141C>T (n.314-2141C>T)
c.222C>T (p.Arg74=)
c.314-1314C>T (n.314-1314C>T)
n.495C>T
n.462C>T
 ClinVar dbSNP
19g.11105253_11105273delCA10584865LDLRc.605_625del (p.Cys202_Ile208del)
c.347_367del (p.Cys116_Ile122del)
c.601_621del
c.314-2139_314-2119del (n.314-2139_314-2119del)
c.224_244del (p.Cys75_Ile81del)
c.314-1312_314-1292del (n.314-1312_314-1292del)
n.497_517del
n.464_484del
 ClinVar dbSNP
19g.11105252T>ACA404076265LDLRc.604T>A (p.Cys202Ser)
c.346T>A (p.Cys116Ser)
c.600T>A
c.314-2140T>A (n.314-2140T>A)
c.223T>A (p.Cys75Ser)
c.314-1313T>A (n.314-1313T>A)
n.496T>A
n.463T>A
 dbSNP
19g.11105252T>CCA10584862LDLRc.604T>C (p.Cys202Arg)
c.346T>C (p.Cys116Arg)
c.600T>C
c.314-2140T>C (n.314-2140T>C)
c.223T>C (p.Cys75Arg)
c.314-1313T>C (n.314-1313T>C)
n.496T>C
n.463T>C
 ClinVar dbSNP
19g.11105252T>GCA404076266LDLRc.604T>G (p.Cys202Gly)
c.346T>G (p.Cys116Gly)
c.600T>G
c.314-2140T>G (n.314-2140T>G)
c.223T>G (p.Cys75Gly)
c.314-1313T>G (n.314-1313T>G)
n.496T>G
n.463T>G
19g.11105252T=CA2322767296LDLRc.604T= (p.Cys202=)
c.346T= (p.Cys116=)
c.600T=
c.314-2140T= (n.314-2140T=)
c.223T= (p.Cys75=)
c.314-1313T= (n.314-1313T=)
n.496T=
n.463T=
19g.11105252_11105255delinsTGCCCA2322767297LDLRc.604_607delinsTGCC (p.Cys202=)
c.346_349delinsTGCC (p.Cys116=)
c.600_603delinsTGCC
c.314-2140_314-2137delinsTGCC (n.314-2140_314-2137delinsTGCC)
c.223_226delinsTGCC (p.Cys75=)
c.314-1313_314-1310delinsTGCC (n.314-1313_314-1310delinsTGCC)
n.496_499delinsTGCC
n.463_466delinsTGCC
19g.11105253G>ACA404076267LDLRc.605G>A (p.Cys202Tyr)
c.347G>A (p.Cys116Tyr)
c.601G>A
c.314-2139G>A (n.314-2139G>A)
c.224G>A (p.Cys75Tyr)
c.314-1312G>A (n.314-1312G>A)
n.497G>A
n.464G>A
 ClinVar dbSNP
19g.11105253G>CCA404076268LDLRc.605G>C (p.Cys202Ser)
c.347G>C (p.Cys116Ser)
c.601G>C
c.314-2139G>C (n.314-2139G>C)
c.224G>C (p.Cys75Ser)
c.314-1312G>C (n.314-1312G>C)
n.497G>C
n.464G>C
19g.11105253G=CA2322767298LDLRc.605G= (p.Cys202=)
c.347G= (p.Cys116=)
c.601G=
c.314-2139G= (n.314-2139G=)
c.224G= (p.Cys75=)
c.314-1312G= (n.314-1312G=)
n.497G=
n.464G=
19g.11105253G>TCA10584863LDLRc.605G>T (p.Cys202Phe)
c.347G>T (p.Cys116Phe)
c.601G>T
c.314-2139G>T (n.314-2139G>T)
c.224G>T (p.Cys75Phe)
c.314-1312G>T (n.314-1312G>T)
n.497G>T
n.464G>T
 ClinVar dbSNP
19g.11105253_11105255delCA10584864LDLRc.605_607del (p.Cys202_His203delinsTyr)
c.347_349del (p.Cys116_His117delinsTyr)
c.601_603del
c.314-2139_314-2137del (n.314-2139_314-2137del)
c.224_226del (p.Cys75_His76delinsTyr)
c.314-1312_314-1310del (n.314-1312_314-1310del)
n.497_499del
n.464_466del
 ClinVar dbSNP
19g.11105254C>ACA404076269LDLRc.606C>A (p.Cys202Ter)
c.348C>A (p.Cys116Ter)
c.602C>A
c.314-2138C>A (n.314-2138C>A)
c.225C>A (p.Cys75Ter)
c.314-1311C>A (n.314-1311C>A)
n.498C>A
n.465C>A
19g.11105254C=CA2322767299LDLRc.606C= (p.Cys202=)
c.348C= (p.Cys116=)
c.602C=
c.314-2138C= (n.314-2138C=)
c.225C= (p.Cys75=)
c.314-1311C= (n.314-1311C=)
n.498C=
n.465C=
19g.11105254C>GCA404076270LDLRc.606C>G (p.Cys202Trp)
c.348C>G (p.Cys116Trp)
c.602C>G
c.314-2138C>G (n.314-2138C>G)
c.225C>G (p.Cys75Trp)
c.314-1311C>G (n.314-1311C>G)
n.498C>G
n.465C>G
19g.11105254C>TCA505742170LDLRc.606C>T (p.Cys202=)
c.348C>T (p.Cys116=)
c.602C>T
c.314-2138C>T (n.314-2138C>T)
c.225C>T (p.Cys75=)
c.314-1311C>T (n.314-1311C>T)
n.498C>T
n.465C>T
 ClinVar dbSNP gnomAD v4
19g.11105255delCA2497030146LDLRc.607del (p.His203ThrfsTer?)
c.349del (p.His117ThrfsTer?)
c.603del
c.314-2137del (n.314-2137del)
c.226del (p.His76ThrfsTer?)
c.314-1310del (n.314-1310del)
n.499del
n.466del
19g.11105255C>ACA404076271LDLRc.607C>A (p.His203Asn)
c.349C>A (p.His117Asn)
c.603C>A
c.314-2137C>A (n.314-2137C>A)
c.226C>A (p.His76Asn)
c.314-1310C>A (n.314-1310C>A)
n.499C>A
n.466C>A
19g.11105255C=CA2322767300LDLRc.607C= (p.His203=)
c.349C= (p.His117=)
c.603C=
c.314-2137C= (n.314-2137C=)
c.226C= (p.His76=)
c.314-1310C= (n.314-1310C=)
n.499C=
n.466C=
19g.11105255C>GCA404076272LDLRc.607C>G (p.His203Asp)
c.349C>G (p.His117Asp)
c.603C>G
c.314-2137C>G (n.314-2137C>G)
c.226C>G (p.His76Asp)
c.314-1310C>G (n.314-1310C>G)
n.499C>G
n.466C>G
19g.11105255C>TCA10584866LDLRc.607C>T (p.His203Tyr)
c.349C>T (p.His117Tyr)
c.603C>T
c.314-2137C>T (n.314-2137C>T)
c.226C>T (p.His76Tyr)
c.314-1310C>T (n.314-1310C>T)
n.499C>T
n.466C>T
 ClinVar dbSNP
19g.11105256A>CCA404076275LDLRc.608A>C (p.His203Pro)
c.350A>C (p.His117Pro)
c.604A>C
c.314-2136A>C (n.314-2136A>C)
c.227A>C (p.His76Pro)
c.314-1309A>C (n.314-1309A>C)
n.500A>C
n.467A>C
19g.11105256A>GCA404076273LDLRc.608A>G (p.His203Arg)
c.350A>G (p.His117Arg)
c.604A>G
c.314-2136A>G (n.314-2136A>G)
c.227A>G (p.His76Arg)
c.314-1309A>G (n.314-1309A>G)
n.500A>G
n.467A>G
19g.11105256A>TCA404076274LDLRc.608A>T (p.His203Leu)
c.350A>T (p.His117Leu)
c.604A>T
c.314-2136A>T (n.314-2136A>T)
c.227A>T (p.His76Leu)
c.314-1309A>T (n.314-1309A>T)
n.500A>T
n.467A>T
19g.11105256_11105278dupCA10584867LDLRc.608_630dup (p.Gln211ThrfsTer?)
c.350_372dup (p.Gln125ThrfsTer?)
c.604_626dup
c.314-2136_314-2114dup (n.314-2136_314-2114dup)
c.227_249dup (p.Gln84ThrfsTer?)
c.314-1309_314-1287dup (n.314-1309_314-1287dup)
n.500_522dup
n.467_489dup
 ClinVar dbSNP
19g.11105257C>ACA404076276LDLRc.609C>A (p.His203Gln)
c.351C>A (p.His117Gln)
c.605C>A
c.314-2135C>A (n.314-2135C>A)
c.228C>A (p.His76Gln)
c.314-1308C>A (n.314-1308C>A)
n.501C>A
n.468C>A
19g.11105257C=CA2322767301LDLRc.609C= (p.His203=)
c.351C= (p.His117=)
c.605C=
c.314-2135C= (n.314-2135C=)
c.228C= (p.His76=)
c.314-1308C= (n.314-1308C=)
n.501C=
n.468C=
19g.11105257C>GCA404076277LDLRc.609C>G (p.His203Gln)
c.351C>G (p.His117Gln)
c.605C>G
c.314-2135C>G (n.314-2135C>G)
c.228C>G (p.His76Gln)
c.314-1308C>G (n.314-1308C>G)
n.501C>G
n.468C>G
19g.11105257C>TCA043262LDLRc.609C>T (p.His203=)
c.351C>T (p.His117=)
c.605C>T
c.314-2135C>T (n.314-2135C>T)
c.228C>T (p.His76=)
c.314-1308C>T (n.314-1308C>T)
n.501C>T
n.468C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105257_11105258insTTCCCA2573050568LDLRc.609_610insTTCC (p.Asp204PhefsTer13)
c.351_352insTTCC (p.Asp118PhefsTer13)
c.605_606insTTCC
c.314-2135_314-2134insTTCC (n.314-2135_314-2134insTTCC)
c.228_229insTTCC (p.Asp77PhefsTer13)
c.314-1308_314-1307insTTCC (n.314-1308_314-1307insTTCC)
n.501_502insTTCC
n.468_469insTTCC
19g.11105258G>ACA10583773LDLRc.610G>A (p.Asp204Asn)
c.352G>A (p.Asp118Asn)
c.606G>A
c.314-2134G>A (n.314-2134G>A)
c.229G>A (p.Asp77Asn)
c.314-1307G>A (n.314-1307G>A)
n.502G>A
n.469G>A
 ClinVar dbSNP gnomAD v4 COSMIC
19g.11105258G>CCA404076278LDLRc.610G>C (p.Asp204His)
c.352G>C (p.Asp118His)
c.606G>C
c.314-2134G>C (n.314-2134G>C)
c.229G>C (p.Asp77His)
c.314-1307G>C (n.314-1307G>C)
n.502G>C
n.469G>C
19g.11105258G=CA2322767302LDLRc.610G= (p.Asp204=)
c.352G= (p.Asp118=)
c.606G=
c.314-2134G= (n.314-2134G=)
c.229G= (p.Asp77=)
c.314-1307G= (n.314-1307G=)
n.502G=
n.469G=
19g.11105258G>TCA023697LDLRc.610G>T (p.Asp204Tyr)
c.352G>T (p.Asp118Tyr)
c.606G>T
c.314-2134G>T (n.314-2134G>T)
c.229G>T (p.Asp77Tyr)
c.314-1307G>T (n.314-1307G>T)
n.502G>T
n.469G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105258_11105259delinsGACA2322767303LDLRc.610_611delinsGA (p.Asp204=)
c.352_353delinsGA (p.Asp118=)
c.606_607delinsGA
c.314-2134_314-2133delinsGA (n.314-2134_314-2133delinsGA)
c.229_230delinsGA (p.Asp77=)
c.314-1307_314-1306delinsGA (n.314-1307_314-1306delinsGA)
n.502_503delinsGA
n.469_470delinsGA
19g.11105259delCA10584868LDLRc.611del (p.Asp204ValfsTer?)
c.353del (p.Asp118ValfsTer?)
c.607del
c.314-2133del (n.314-2133del)
c.230del (p.Asp77ValfsTer?)
c.314-1306del (n.314-1306del)
n.503del
n.470del
 ClinVar dbSNP
19g.11105259A=CA2322767305LDLRc.611A= (p.Asp204=)
c.353A= (p.Asp118=)
c.607A=
c.314-2133A= (n.314-2133A=)
c.230A= (p.Asp77=)
c.314-1306A= (n.314-1306A=)
n.503A=
n.470A=
19g.11105259A>CCA404076279LDLRc.611A>C (p.Asp204Ala)
c.353A>C (p.Asp118Ala)
c.607A>C
c.314-2133A>C (n.314-2133A>C)
c.230A>C (p.Asp77Ala)
c.314-1306A>C (n.314-1306A>C)
n.503A>C
n.470A>C
 ClinVar
19g.11105259A>GCA404076280LDLRc.611A>G (p.Asp204Gly)
c.353A>G (p.Asp118Gly)
c.607A>G
c.314-2133A>G (n.314-2133A>G)
c.230A>G (p.Asp77Gly)
c.314-1306A>G (n.314-1306A>G)
n.503A>G
n.470A>G
 dbSNP gnomAD v2 gnomAD v4
19g.11105259A>TCA404076281LDLRc.611A>T (p.Asp204Val)
c.353A>T (p.Asp118Val)
c.607A>T
c.314-2133A>T (n.314-2133A>T)
c.230A>T (p.Asp77Val)
c.314-1306A>T (n.314-1306A>T)
n.503A>T
n.470A>T
19g.11105259_11105262delinsATGGCA2322767306LDLRc.611_614delinsATGG (p.Asp204=)
c.353_356delinsATGG (p.Asp118=)
c.607_610delinsATGG
c.314-2133_314-2130delinsATGG (n.314-2133_314-2130delinsATGG)
c.230_233delinsATGG (p.Asp77=)
c.314-1306_314-1303delinsATGG (n.314-1306_314-1303delinsATGG)
n.503_506delinsATGG
n.470_473delinsATGG
19g.11105259_11105266delinsATGGGAAGCA2322767304LDLRc.611_618delinsATGGGAAG (p.Asp204=)
c.353_360delinsATGGGAAG (p.Asp118=)
c.607_614delinsATGGGAAG
c.314-2133_314-2126delinsATGGGAAG (n.314-2133_314-2126delinsATGGGAAG)
c.230_237delinsATGGGAAG (p.Asp77=)
c.314-1306_314-1299delinsATGGGAAG (n.314-1306_314-1299delinsATGGGAAG)
n.503_510delinsATGGGAAG
n.470_477delinsATGGGAAG
19g.11105260T>ACA404076282LDLRc.612T>A (p.Asp204Glu)
c.354T>A (p.Asp118Glu)
c.608T>A
c.314-2132T>A (n.314-2132T>A)
c.231T>A (p.Asp77Glu)
c.314-1305T>A (n.314-1305T>A)
n.504T>A
n.471T>A
19g.11105260T>CCA505742175LDLRc.612T>C (p.Asp204=)
c.354T>C (p.Asp118=)
c.608T>C
c.314-2132T>C (n.314-2132T>C)
c.231T>C (p.Asp77=)
c.314-1305T>C (n.314-1305T>C)
n.504T>C
n.471T>C
 ClinVar dbSNP gnomAD v4
19g.11105260T>GCA404076283LDLRc.612T>G (p.Asp204Glu)
c.354T>G (p.Asp118Glu)
c.608T>G
c.314-2132T>G (n.314-2132T>G)
c.231T>G (p.Asp77Glu)
c.314-1305T>G (n.314-1305T>G)
n.504T>G
n.471T>G
19g.11105260T=CA2322767308LDLRc.612T= (p.Asp204=)
c.354T= (p.Asp118=)
c.608T=
c.314-2132T= (n.314-2132T=)
c.231T= (p.Asp77=)
c.314-1305T= (n.314-1305T=)
n.504T=
n.471T=
19g.11105260_11105261delinsTGCA2322767307LDLRc.612_613delinsTG (p.Asp204=)
c.354_355delinsTG (p.Asp118=)
c.608_609delinsTG
c.314-2132_314-2131delinsTG (n.314-2132_314-2131delinsTG)
c.231_232delinsTG (p.Asp77=)
c.314-1305_314-1304delinsTG (n.314-1305_314-1304delinsTG)
n.504_505delinsTG
n.471_472delinsTG
19g.11105260_11105262delCA10584869LDLRc.612_614del (p.Asp204_Gly205delinsGlu)
c.354_356del (p.Asp118_Gly119delinsGlu)
c.608_610del
c.314-2132_314-2130del (n.314-2132_314-2130del)
c.231_233del (p.Asp77_Gly78delinsGlu)
c.314-1305_314-1303del (n.314-1305_314-1303del)
n.504_506del
n.471_473del
 ClinVar dbSNP
19g.11105262_11105268delCA10584870LDLRc.614_620del (p.Gly205AlafsTer?)
c.356_362del (p.Gly119AlafsTer?)
c.610_616del
c.314-2130_314-2124del (n.314-2130_314-2124del)
c.233_239del (p.Gly78AlafsTer?)
c.314-1303_314-1297del (n.314-1303_314-1297del)
n.506_512del
n.473_479del
 ClinVar dbSNP
19g.11105260_11105261insTGGCCA2497030113LDLRc.612_613insTGGC (p.Gly205TrpfsTer12)
c.354_355insTGGC (p.Gly119TrpfsTer12)
c.608_609insTGGC
c.314-2132_314-2131insTGGC (n.314-2132_314-2131insTGGC)
c.231_232insTGGC (p.Gly78TrpfsTer12)
c.314-1305_314-1304insTGGC (n.314-1305_314-1304insTGGC)
n.504_505insTGGC
n.471_472insTGGC
19g.11105261G>ACA358786LDLRc.613G>A (p.Gly205Arg)
c.355G>A (p.Gly119Arg)
c.609G>A
c.314-2131G>A (n.314-2131G>A)
c.232G>A (p.Gly78Arg)
c.314-1304G>A (n.314-1304G>A)
n.505G>A
n.472G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105261G>CCA404076284LDLRc.613G>C (p.Gly205Arg)
c.355G>C (p.Gly119Arg)
c.609G>C
c.314-2131G>C (n.314-2131G>C)
c.232G>C (p.Gly78Arg)
c.314-1304G>C (n.314-1304G>C)
n.505G>C
n.472G>C
19g.11105261G=CA2322767309LDLRc.613G= (p.Gly205=)
c.355G= (p.Gly119=)
c.609G=
c.314-2131G= (n.314-2131G=)
c.232G= (p.Gly78=)
c.314-1304G= (n.314-1304G=)
n.505G=
n.472G=
19g.11105261G>TCA404076285LDLRc.613G>T (p.Gly205Trp)
c.355G>T (p.Gly119Trp)
c.609G>T
c.314-2131G>T (n.314-2131G>T)
c.232G>T (p.Gly78Trp)
c.314-1304G>T (n.314-1304G>T)
n.505G>T
n.472G>T
19g.11105263delCA10584871LDLRc.615del (p.Lys206SerfsTer?)
c.357del (p.Lys120SerfsTer?)
c.611del
c.314-2129del (n.314-2129del)
c.234del (p.Lys79SerfsTer?)
c.314-1302del (n.314-1302del)
n.507del
n.474del
 ClinVar dbSNP
19g.11105261_11105262insTTCCCA2695223192LDLRc.613_614insTTCC (p.Gly205ValfsTer12)
c.355_356insTTCC (p.Gly119ValfsTer12)
c.609_610insTTCC
c.314-2131_314-2130insTTCC (n.314-2131_314-2130insTTCC)
c.232_233insTTCC (p.Gly78ValfsTer12)
c.314-1304_314-1303insTTCC (n.314-1304_314-1303insTTCC)
n.505_506insTTCC
n.472_473insTTCC
19g.11105262G>ACA404076286LDLRc.614G>A (p.Gly205Glu)
c.356G>A (p.Gly119Glu)
c.610G>A
c.314-2130G>A (n.314-2130G>A)
c.233G>A (p.Gly78Glu)
c.314-1303G>A (n.314-1303G>A)
n.506G>A
n.473G>A
19g.11105262G>CCA404076287LDLRc.614G>C (p.Gly205Ala)
c.356G>C (p.Gly119Ala)
c.610G>C
c.314-2130G>C (n.314-2130G>C)
c.233G>C (p.Gly78Ala)
c.314-1303G>C (n.314-1303G>C)
n.506G>C
n.473G>C
 dbSNP gnomAD v4
19g.11105262G>TCA404076288LDLRc.614G>T (p.Gly205Val)
c.356G>T (p.Gly119Val)
c.610G>T
c.314-2130G>T (n.314-2130G>T)
c.233G>T (p.Gly78Val)
c.314-1303G>T (n.314-1303G>T)
n.506G>T
n.473G>T
19g.11105263G>ACA505742177LDLRc.615G>A (p.Gly205=)
c.357G>A (p.Gly119=)
c.611G>A
c.314-2129G>A (n.314-2129G>A)
c.234G>A (p.Gly78=)
c.314-1302G>A (n.314-1302G>A)
n.507G>A
n.474G>A
19g.11105263G>CCA505742178LDLRc.615G>C (p.Gly205=)
c.357G>C (p.Gly119=)
c.611G>C
c.314-2129G>C (n.314-2129G>C)
c.234G>C (p.Gly78=)
c.314-1302G>C (n.314-1302G>C)
n.507G>C
n.474G>C
19g.11105263G>TCA505742179LDLRc.615G>T (p.Gly205=)
c.357G>T (p.Gly119=)
c.611G>T
c.314-2129G>T (n.314-2129G>T)
c.234G>T (p.Gly78=)
c.314-1302G>T (n.314-1302G>T)
n.507G>T
n.474G>T
19g.11105264A>CCA404076289LDLRc.616A>C (p.Lys206Gln)
c.358A>C (p.Lys120Gln)
c.612A>C
c.314-2128A>C (n.314-2128A>C)
c.235A>C (p.Lys79Gln)
c.314-1301A>C (n.314-1301A>C)
n.508A>C
n.475A>C
19g.11105264A>GCA404076290LDLRc.616A>G (p.Lys206Glu)
c.358A>G (p.Lys120Glu)
c.612A>G
c.314-2128A>G (n.314-2128A>G)
c.235A>G (p.Lys79Glu)
c.314-1301A>G (n.314-1301A>G)
n.508A>G
n.475A>G
19g.11105264A>TCA404076291LDLRc.616A>T (p.Lys206Ter)
c.358A>T (p.Lys120Ter)
c.612A>T
c.314-2128A>T (n.314-2128A>T)
c.235A>T (p.Lys79Ter)
c.314-1301A>T (n.314-1301A>T)
n.508A>T
n.475A>T
19g.11105264_11105267delCA2735610855LDLRc.616_619del (p.Lys206AlafsTer?)
c.358_361del (p.Lys120AlafsTer?)
c.612_615del
c.314-2128_314-2125del (n.314-2128_314-2125del)
c.235_238del (p.Lys79AlafsTer?)
c.314-1301_314-1298del (n.314-1301_314-1298del)
n.508_511del
n.475_478del
 dbSNP
19g.11105264_11105279delinsAAGTGCATCTCTCGGCCA2322767310LDLRc.616_631delinsAAGTGCATCTCTCGGC (p.Lys206=)
c.358_373delinsAAGTGCATCTCTCGGC (p.Lys120=)
c.612_627delinsAAGTGCATCTCTCGGC
c.314-2128_314-2113delinsAAGTGCATCTCTCGGC (n.314-2128_314-2113delinsAAGTGCATCTCTCGGC)
c.235_250delinsAAGTGCATCTCTCGGC (p.Lys79=)
c.314-1301_314-1286delinsAAGTGCATCTCTCGGC (n.314-1301_314-1286delinsAAGTGCATCTCTCGGC)
n.508_523delinsAAGTGCATCTCTCGGC
n.475_490delinsAAGTGCATCTCTCGGC
19g.11105265A=CA2322767311LDLRc.617A= (p.Lys206=)
c.359A= (p.Lys120=)
c.613A=
c.314-2127A= (n.314-2127A=)
c.236A= (p.Lys79=)
c.314-1300A= (n.314-1300A=)
n.509A=
n.476A=
19g.11105265A>CCA404076292LDLRc.617A>C (p.Lys206Thr)
c.359A>C (p.Lys120Thr)
c.613A>C
c.314-2127A>C (n.314-2127A>C)
c.236A>C (p.Lys79Thr)
c.314-1300A>C (n.314-1300A>C)
n.509A>C
n.476A>C
19g.11105265A>GCA404076293LDLRc.617A>G (p.Lys206Arg)
c.359A>G (p.Lys120Arg)
c.613A>G
c.314-2127A>G (n.314-2127A>G)
c.236A>G (p.Lys79Arg)
c.314-1300A>G (n.314-1300A>G)
n.509A>G
n.476A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11105265A>TCA404076294LDLRc.617A>T (p.Lys206Met)
c.359A>T (p.Lys120Met)
c.613A>T
c.314-2127A>T (n.314-2127A>T)
c.236A>T (p.Lys79Met)
c.314-1300A>T (n.314-1300A>T)
n.509A>T
n.476A>T
19g.11105268_11105282delCA658653698LDLRc.620_634del (p.Cys207_Gln211del)
c.362_376del (p.Cys121_Gln125del)
c.616_630del
c.314-2124_314-2110del (n.314-2124_314-2110del)
c.239_253del (p.Cys80_Gln84del)
c.314-1297_314-1283del (n.314-1297_314-1283del)
n.512_526del
n.479_493del
 ClinVar dbSNP
19g.11105266G>ACA505742180LDLRc.618G>A (p.Lys206=)
c.360G>A (p.Lys120=)
c.614G>A
c.314-2126G>A (n.314-2126G>A)
c.237G>A (p.Lys79=)
c.314-1299G>A (n.314-1299G>A)
n.510G>A
n.477G>A
 gnomAD v4
19g.11105266G>CCA404076296LDLRc.618G>C (p.Lys206Asn)
c.360G>C (p.Lys120Asn)
c.614G>C
c.314-2126G>C (n.314-2126G>C)
c.237G>C (p.Lys79Asn)
c.314-1299G>C (n.314-1299G>C)
n.510G>C
n.477G>C
19g.11105266G>TCA404076295LDLRc.618G>T (p.Lys206Asn)
c.360G>T (p.Lys120Asn)
c.614G>T
c.314-2126G>T (n.314-2126G>T)
c.237G>T (p.Lys79Asn)
c.314-1299G>T (n.314-1299G>T)
n.510G>T
n.477G>T
19g.11105267T>ACA10584872LDLRc.619T>A (p.Cys207Ser)
c.361T>A (p.Cys121Ser)
c.615T>A
c.314-2125T>A (n.314-2125T>A)
c.238T>A (p.Cys80Ser)
c.314-1298T>A (n.314-1298T>A)
n.511T>A
n.478T>A
 ClinVar dbSNP
19g.11105267T>CCA10584873LDLRc.619T>C (p.Cys207Arg)
c.361T>C (p.Cys121Arg)
c.615T>C
c.314-2125T>C (n.314-2125T>C)
c.238T>C (p.Cys80Arg)
c.314-1298T>C (n.314-1298T>C)
n.511T>C
n.478T>C
 ClinVar dbSNP
19g.11105267T>GCA10584874LDLRc.619T>G (p.Cys207Gly)
c.361T>G (p.Cys121Gly)
c.615T>G
c.314-2125T>G (n.314-2125T>G)
c.238T>G (p.Cys80Gly)
c.314-1298T>G (n.314-1298T>G)
n.511T>G
n.478T>G
 ClinVar dbSNP gnomAD v4
19g.11105267T=CA2322767312LDLRc.619T= (p.Cys207=)
c.361T= (p.Cys121=)
c.615T=
c.314-2125T= (n.314-2125T=)
c.238T= (p.Cys80=)
c.314-1298T= (n.314-1298T=)
n.511T=
n.478T=
19g.11105268G>ACA023699LDLRc.620G>A (p.Cys207Tyr)
c.362G>A (p.Cys121Tyr)
c.616G>A
c.314-2124G>A (n.314-2124G>A)
c.239G>A (p.Cys80Tyr)
c.314-1297G>A (n.314-1297G>A)
n.512G>A
n.479G>A
 ClinVar dbSNP
19g.11105268G>CCA10584875LDLRc.620G>C (p.Cys207Ser)
c.362G>C (p.Cys121Ser)
c.616G>C
c.314-2124G>C (n.314-2124G>C)
c.239G>C (p.Cys80Ser)
c.314-1297G>C (n.314-1297G>C)
n.512G>C
n.479G>C
 ClinVar dbSNP
19g.11105268G=CA2322767313LDLRc.620G= (p.Cys207=)
c.362G= (p.Cys121=)
c.616G=
c.314-2124G= (n.314-2124G=)
c.239G= (p.Cys80=)
c.314-1297G= (n.314-1297G=)
n.512G=
n.479G=
19g.11105268G>TCA10584876LDLRc.620G>T (p.Cys207Phe)
c.362G>T (p.Cys121Phe)
c.616G>T
c.314-2124G>T (n.314-2124G>T)
c.239G>T (p.Cys80Phe)
c.314-1297G>T (n.314-1297G>T)
n.512G>T
n.479G>T
 ClinVar dbSNP gnomAD v4
19g.11105269C>ACA404076298LDLRc.621C>A (p.Cys207Ter)
c.363C>A (p.Cys121Ter)
c.617C>A
c.314-2123C>A (n.314-2123C>A)
c.240C>A (p.Cys80Ter)
c.314-1296C>A (n.314-1296C>A)
n.513C>A
n.480C>A
19g.11105269C=CA2322767314LDLRc.621C= (p.Cys207=)
c.363C= (p.Cys121=)
c.617C=
c.314-2123C= (n.314-2123C=)
c.240C= (p.Cys80=)
c.314-1296C= (n.314-1296C=)
n.513C=
n.480C=
19g.11105269C>GCA404076297LDLRc.621C>G (p.Cys207Trp)
c.363C>G (p.Cys121Trp)
c.617C>G
c.314-2123C>G (n.314-2123C>G)
c.240C>G (p.Cys80Trp)
c.314-1296C>G (n.314-1296C>G)
n.513C>G
n.480C>G
 ClinVar dbSNP
19g.11105269C>TCA505742181LDLRc.621C>T (p.Cys207=)
c.363C>T (p.Cys121=)
c.617C>T
c.314-2123C>T (n.314-2123C>T)
c.240C>T (p.Cys80=)
c.314-1296C>T (n.314-1296C>T)
n.513C>T
n.480C>T
 ClinVar dbSNP
19g.11105270A=CA2322767316LDLRc.622A= (p.Ile208=)
c.364A= (p.Ile122=)
c.618A=
c.314-2122A= (n.314-2122A=)
c.241A= (p.Ile81=)
c.314-1295A= (n.314-1295A=)
n.514A=
n.481A=
19g.11105270A>CCA404076299LDLRc.622A>C (p.Ile208Leu)
c.364A>C (p.Ile122Leu)
c.618A>C
c.314-2122A>C (n.314-2122A>C)
c.241A>C (p.Ile81Leu)
c.314-1295A>C (n.314-1295A>C)
n.514A>C
n.481A>C
 ClinVar gnomAD v4
19g.11105270A>GCA404076300LDLRc.622A>G (p.Ile208Val)
c.364A>G (p.Ile122Val)
c.618A>G
c.314-2122A>G (n.314-2122A>G)
c.241A>G (p.Ile81Val)
c.314-1295A>G (n.314-1295A>G)
n.514A>G
n.481A>G
 gnomAD v4
19g.11105270A>TCA10584877LDLRc.622A>T (p.Ile208Phe)
c.364A>T (p.Ile122Phe)
c.618A>T
c.314-2122A>T (n.314-2122A>T)
c.241A>T (p.Ile81Phe)
c.314-1295A>T (n.314-1295A>T)
n.514A>T
n.481A>T
 ClinVar dbSNP
19g.11105270_11105272delinsATCCA2322767315LDLRc.622_624delinsATC (p.Ile208=)
c.364_366delinsATC (p.Ile122=)
c.618_620delinsATC
c.314-2122_314-2120delinsATC (n.314-2122_314-2120delinsATC)
c.241_243delinsATC (p.Ile81=)
c.314-1295_314-1293delinsATC (n.314-1295_314-1293delinsATC)
n.514_516delinsATC
n.481_483delinsATC
19g.11105271T>ACA404076301LDLRc.623T>A (p.Ile208Asn)
c.365T>A (p.Ile122Asn)
c.619T>A
c.314-2121T>A (n.314-2121T>A)
c.242T>A (p.Ile81Asn)
c.314-1294T>A (n.314-1294T>A)
n.515T>A
n.482T>A
19g.11105271T>CCA404076302LDLRc.623T>C (p.Ile208Thr)
c.365T>C (p.Ile122Thr)
c.619T>C
c.314-2121T>C (n.314-2121T>C)
c.242T>C (p.Ile81Thr)
c.314-1294T>C (n.314-1294T>C)
n.515T>C
n.482T>C
19g.11105271T>GCA404076303LDLRc.623T>G (p.Ile208Ser)
c.365T>G (p.Ile122Ser)
c.619T>G
c.314-2121T>G (n.314-2121T>G)
c.242T>G (p.Ile81Ser)
c.314-1294T>G (n.314-1294T>G)
n.515T>G
n.482T>G
19g.11105271T=CA2322767317LDLRc.623T= (p.Ile208=)
c.365T= (p.Ile122=)
c.619T=
c.314-2121T= (n.314-2121T=)
c.242T= (p.Ile81=)
c.314-1294T= (n.314-1294T=)
n.515T=
n.482T=
19g.11105275_11105276dupCA2695238676LDLRc.627_628dup (p.Arg210LeufsTer?)
c.369_370dup (p.Arg124LeufsTer?)
c.623_624dup
c.314-2117_314-2116dup (n.314-2117_314-2116dup)
c.246_247dup (p.Arg83LeufsTer?)
c.314-1290_314-1289dup (n.314-1290_314-1289dup)
n.519_520dup
n.486_487dup
19g.11105275_11105276delCA10584881LDLRc.627_628del (p.Arg210AlafsTer5)
c.369_370del (p.Arg124AlafsTer5)
c.623_624del
c.314-2117_314-2116del (n.314-2117_314-2116del)
c.246_247del (p.Arg83AlafsTer5)
c.314-1290_314-1289del (n.314-1290_314-1289del)
n.519_520del
n.486_487del
 ClinVar dbSNP
19g.11105272C>ACA505742183LDLRc.624C>A (p.Ile208=)
c.366C>A (p.Ile122=)
c.620C>A
c.314-2120C>A (n.314-2120C>A)
c.243C>A (p.Ile81=)
c.314-1293C>A (n.314-1293C>A)
n.516C>A
n.483C>A
19g.11105272C=CA2322767318LDLRc.624C= (p.Ile208=)
c.366C= (p.Ile122=)
c.620C=
c.314-2120C= (n.314-2120C=)
c.243C= (p.Ile81=)
c.314-1293C= (n.314-1293C=)
n.516C=
n.483C=
19g.11105272C>GCA404076304LDLRc.624C>G (p.Ile208Met)
c.366C>G (p.Ile122Met)
c.620C>G
c.314-2120C>G (n.314-2120C>G)
c.243C>G (p.Ile81Met)
c.314-1293C>G (n.314-1293C>G)
n.516C>G
n.483C>G
19g.11105272C>TCA043309LDLRc.624C>T (p.Ile208=)
c.366C>T (p.Ile122=)
c.620C>T
c.314-2120C>T (n.314-2120C>T)
c.243C>T (p.Ile81=)
c.314-1293C>T (n.314-1293C>T)
n.516C>T
n.483C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105272dupCA10584878LDLRc.624dup (p.Ser209LeufsTer7)
c.366dup (p.Ser123LeufsTer7)
c.620dup
c.314-2120dup (n.314-2120dup)
c.243dup (p.Ser82LeufsTer7)
c.314-1293dup (n.314-1293dup)
n.516dup
n.483dup
 ClinVar dbSNP
19g.11105273T>ACA10584879LDLRc.625T>A (p.Ser209Thr)
c.367T>A (p.Ser123Thr)
c.621T>A
c.314-2119T>A (n.314-2119T>A)
c.244T>A (p.Ser82Thr)
c.314-1292T>A (n.314-1292T>A)
n.517T>A
n.484T>A
 ClinVar dbSNP
19g.11105273T>CCA10584880LDLRc.625T>C (p.Ser209Pro)
c.367T>C (p.Ser123Pro)
c.621T>C
c.314-2119T>C (n.314-2119T>C)
c.244T>C (p.Ser82Pro)
c.314-1292T>C (n.314-1292T>C)
n.517T>C
n.484T>C
 ClinVar dbSNP gnomAD v4
19g.11105273T>GCA404076305LDLRc.625T>G (p.Ser209Ala)
c.367T>G (p.Ser123Ala)
c.621T>G
c.314-2119T>G (n.314-2119T>G)
c.244T>G (p.Ser82Ala)
c.314-1292T>G (n.314-1292T>G)
n.517T>G
n.484T>G
19g.11105273T=CA2322767319LDLRc.625T= (p.Ser209=)
c.367T= (p.Ser123=)
c.621T=
c.314-2119T= (n.314-2119T=)
c.244T= (p.Ser82=)
c.314-1292T= (n.314-1292T=)
n.517T=
n.484T=
19g.11105273_11105298delinsTCTCGGCAGTTCGTCTGTGACTCAGACA2322767320LDLRc.625_650delinsTCTCGGCAGTTCGTCTGTGACTCAGA (p.Ser209=)
c.367_392delinsTCTCGGCAGTTCGTCTGTGACTCAGA (p.Ser123=)
c.621_646delinsTCTCGGCAGTTCGTCTGTGACTCAGA
c.314-2119_314-2094delinsTCTCGGCAGTTCGTCTGTGACTCAGA (n.314-2119_314-2094delinsTCTCGGCAGTTCGTCTGTGACTCAGA)
c.244_269delinsTCTCGGCAGTTCGTCTGTGACTCAGA (p.Ser82=)
c.314-1292_314-1267delinsTCTCGGCAGTTCGTCTGTGACTCAGA (n.314-1292_314-1267delinsTCTCGGCAGTTCGTCTGTGACTCAGA)
n.517_542delinsTCTCGGCAGTTCGTCTGTGACTCAGA
n.484_509delinsTCTCGGCAGTTCGTCTGTGACTCAGA
19g.11105274C>ACA404076307LDLRc.626C>A (p.Ser209Tyr)
c.368C>A (p.Ser123Tyr)
c.622C>A
c.314-2118C>A (n.314-2118C>A)
c.245C>A (p.Ser82Tyr)
c.314-1291C>A (n.314-1291C>A)
n.518C>A
n.485C>A
19g.11105274C=CA2322767321LDLRc.626C= (p.Ser209=)
c.368C= (p.Ser123=)
c.622C=
c.314-2118C= (n.314-2118C=)
c.245C= (p.Ser82=)
c.314-1291C= (n.314-1291C=)
n.518C=
n.485C=
19g.11105274C>GCA404076306LDLRc.626C>G (p.Ser209Cys)
c.368C>G (p.Ser123Cys)
c.622C>G
c.314-2118C>G (n.314-2118C>G)
c.245C>G (p.Ser82Cys)
c.314-1291C>G (n.314-1291C>G)
n.518C>G
n.485C>G
 ClinVar dbSNP
19g.11105274C>TCA404076308LDLRc.626C>T (p.Ser209Phe)
c.368C>T (p.Ser123Phe)
c.622C>T
c.314-2118C>T (n.314-2118C>T)
c.245C>T (p.Ser82Phe)
c.314-1291C>T (n.314-1291C>T)
n.518C>T
n.485C>T
 dbSNP
19g.11105275_11105299delCA10584882LDLRc.627_651del (p.Arg210GlyfsTer?)
c.369_393del (p.Arg124GlyfsTer?)
c.623_647del
c.314-2117_314-2093del (n.314-2117_314-2093del)
c.246_270del (p.Arg83GlyfsTer?)
c.314-1290_314-1266del (n.314-1290_314-1266del)
n.519_543del
n.486_510del
 ClinVar dbSNP
19g.11105275T>ACA505742184LDLRc.627T>A (p.Ser209=)
c.369T>A (p.Ser123=)
c.623T>A
c.314-2117T>A (n.314-2117T>A)
c.246T>A (p.Ser82=)
c.314-1290T>A (n.314-1290T>A)
n.519T>A
n.486T>A
19g.11105275T>CCA505742185LDLRc.627T>C (p.Ser209=)
c.369T>C (p.Ser123=)
c.623T>C
c.314-2117T>C (n.314-2117T>C)
c.246T>C (p.Ser82=)
c.314-1290T>C (n.314-1290T>C)
n.519T>C
n.486T>C
19g.11105275T>GCA043324LDLRc.627T>G (p.Ser209=)
c.369T>G (p.Ser123=)
c.623T>G
c.314-2117T>G (n.314-2117T>G)
c.246T>G (p.Ser82=)
c.314-1290T>G (n.314-1290T>G)
n.519T>G
n.486T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105275T=CA2322767323LDLRc.627T= (p.Ser209=)
c.369T= (p.Ser123=)
c.623T=
c.314-2117T= (n.314-2117T=)
c.246T= (p.Ser82=)
c.314-1290T= (n.314-1290T=)
n.519T=
n.486T=
19g.11105275_11105277delinsTCGCA2322767322LDLRc.627_629delinsTCG (p.Ser209=)
c.369_371delinsTCG (p.Ser123=)
c.623_625delinsTCG
c.314-2117_314-2115delinsTCG (n.314-2117_314-2115delinsTCG)
c.246_248delinsTCG (p.Ser82=)
c.314-1290_314-1288delinsTCG (n.314-1290_314-1288delinsTCG)
n.519_521delinsTCG
n.486_488delinsTCG
19g.11105275_11105276insGCCACA2322767324LDLRc.627_628insGCCA (p.Arg210AlafsTer7)
c.369_370insGCCA (p.Arg124AlafsTer7)
c.623_624insGCCA
c.314-2117_314-2116insGCCA (n.314-2117_314-2116insGCCA)
c.246_247insGCCA (p.Arg83AlafsTer7)
c.314-1290_314-1289insGCCA (n.314-1290_314-1289insGCCA)
n.519_520insGCCA
n.486_487insGCCA
 dbSNP
19g.11105276C>ACA505742186LDLRc.628C>A (p.Arg210=)
c.370C>A (p.Arg124=)
c.624C>A
c.314-2116C>A (n.314-2116C>A)
c.247C>A (p.Arg83=)
c.314-1289C>A (n.314-1289C>A)
n.520C>A
n.487C>A
19g.11105276C=CA2322767325LDLRc.628C= (p.Arg210=)
c.370C= (p.Arg124=)
c.624C=
c.314-2116C= (n.314-2116C=)
c.247C= (p.Arg83=)
c.314-1289C= (n.314-1289C=)
n.520C=
n.487C=
19g.11105276C>GCA10584883LDLRc.628C>G (p.Arg210Gly)
c.370C>G (p.Arg124Gly)
c.624C>G
c.314-2116C>G (n.314-2116C>G)
c.247C>G (p.Arg83Gly)
c.314-1289C>G (n.314-1289C>G)
n.520C>G
n.487C>G
 ClinVar dbSNP
19g.11105276C>TCA10584884LDLRc.628C>T (p.Arg210Trp)
c.370C>T (p.Arg124Trp)
c.624C>T
c.314-2116C>T (n.314-2116C>T)
c.247C>T (p.Arg83Trp)
c.314-1289C>T (n.314-1289C>T)
n.520C>T
n.487C>T
 ClinVar dbSNP gnomAD v4 COSMIC
19g.11105276dupCA10654843LDLRc.628dup (p.Arg210ProfsTer6)
c.370dup (p.Arg124ProfsTer6)
c.624dup
c.314-2116dup (n.314-2116dup)
c.247dup (p.Arg83ProfsTer6)
c.314-1289dup (n.314-1289dup)
n.520dup
n.487dup
 ClinVar dbSNP
19g.11105276_11105277delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGTCA1139666290LDLRc.628_629delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (p.Arg210delinsAlaThrMetGlySerAlaSerLeuProArgTrpGluVal)
c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (p.Arg124delinsAlaThrMetGlySerAlaSerLeuProArgTrpGluVal)
c.624_625delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT
c.314-2116_314-2115delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (n.314-2116_314-2115delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT)
c.247_248delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (p.Arg83delinsAlaThrMetGlySerAlaSerLeuProArgTrpGluVal)
c.314-1289_314-1288delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (n.314-1289_314-1288delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT)
n.520_521delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT
n.487_488delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT
 ClinVar dbSNP
19g.11105277G>ACA305296763LDLRc.629G>A (p.Arg210Gln)
c.371G>A (p.Arg124Gln)
c.625G>A
c.314-2115G>A (n.314-2115G>A)
c.248G>A (p.Arg83Gln)
c.314-1288G>A (n.314-1288G>A)
n.521G>A
n.488G>A
 dbSNP gnomAD v2 gnomAD v4
19g.11105277G>CCA404076309LDLRc.629G>C (p.Arg210Pro)
c.371G>C (p.Arg124Pro)
c.625G>C
c.314-2115G>C (n.314-2115G>C)
c.248G>C (p.Arg83Pro)
c.314-1288G>C (n.314-1288G>C)
n.521G>C
n.488G>C
 ClinVar dbSNP
19g.11105277G=CA2322767326LDLRc.629G= (p.Arg210=)
c.371G= (p.Arg124=)
c.625G=
c.314-2115G= (n.314-2115G=)
c.248G= (p.Arg83=)
c.314-1288G= (n.314-1288G=)
n.521G=
n.488G=
19g.11105277G>TCA404076310LDLRc.629G>T (p.Arg210Leu)
c.371G>T (p.Arg124Leu)
c.625G>T
c.314-2115G>T (n.314-2115G>T)
c.248G>T (p.Arg83Leu)
c.314-1288G>T (n.314-1288G>T)
n.521G>T
n.488G>T
19g.11105278delCA2695223193LDLRc.630del (p.Gln211SerfsTer?)
c.372del (p.Gln125SerfsTer?)
c.626del
c.314-2114del (n.314-2114del)
c.249del (p.Gln84SerfsTer?)
c.314-1287del (n.314-1287del)
n.522del
n.489del
19g.11105277_11105278insCCA10584885LDLRc.629_630insC (p.Gln211AlafsTer5)
c.371_372insC (p.Gln125AlafsTer5)
c.625_626insC
c.314-2115_314-2114insC (n.314-2115_314-2114insC)
c.248_249insC (p.Gln84AlafsTer5)
c.314-1288_314-1287insC (n.314-1288_314-1287insC)
n.521_522insC
n.488_489insC
 ClinVar dbSNP
19g.11105278G>ACA505742187LDLRc.630G>A (p.Arg210=)
c.372G>A (p.Arg124=)
c.626G>A
c.314-2114G>A (n.314-2114G>A)
c.249G>A (p.Arg83=)
c.314-1287G>A (n.314-1287G>A)
n.522G>A
n.489G>A
19g.11105278G>CCA505742188LDLRc.630G>C (p.Arg210=)
c.372G>C (p.Arg124=)
c.626G>C
c.314-2114G>C (n.314-2114G>C)
c.249G>C (p.Arg83=)
c.314-1287G>C (n.314-1287G>C)
n.522G>C
n.489G>C
19g.11105278G>TCA505742189LDLRc.630G>T (p.Arg210=)
c.372G>T (p.Arg124=)
c.626G>T
c.314-2114G>T (n.314-2114G>T)
c.249G>T (p.Arg83=)
c.314-1287G>T (n.314-1287G>T)
n.522G>T
n.489G>T
19g.11105279_11105285delCA2573155732LDLRc.631_637del (p.Gln211SerfsTer?)
c.373_379del (p.Gln125SerfsTer?)
c.627_633del
c.314-2113_314-2107del (n.314-2113_314-2107del)
c.250_256del (p.Gln84SerfsTer?)
c.314-1286_314-1280del (n.314-1286_314-1280del)
n.523_529del
n.490_496del
 ClinVar dbSNP
19g.11105279C>ACA10576280LDLRc.631C>A (p.Gln211Lys)
c.373C>A (p.Gln125Lys)
c.627C>A
c.314-2113C>A (n.314-2113C>A)
c.250C>A (p.Gln84Lys)
c.314-1286C>A (n.314-1286C>A)
n.523C>A
n.490C>A
 ClinVar dbSNP gnomAD v4
19g.11105279C=CA2322767327LDLRc.631C= (p.Gln211=)
c.373C= (p.Gln125=)
c.627C=
c.314-2113C= (n.314-2113C=)
c.250C= (p.Gln84=)
c.314-1286C= (n.314-1286C=)
n.523C=
n.490C=
19g.11105279C>GCA404076311LDLRc.631C>G (p.Gln211Glu)
c.373C>G (p.Gln125Glu)
c.627C>G
c.314-2113C>G (n.314-2113C>G)
c.250C>G (p.Gln84Glu)
c.314-1286C>G (n.314-1286C>G)
n.523C>G
n.490C>G
 gnomAD v4
19g.11105279C>TCA10584886LDLRc.631C>T (p.Gln211Ter)
c.373C>T (p.Gln125Ter)
c.627C>T
c.314-2113C>T (n.314-2113C>T)
c.250C>T (p.Gln84Ter)
c.314-1286C>T (n.314-1286C>T)
n.523C>T
n.490C>T
 ClinVar dbSNP gnomAD v4
19g.11105279_11105289delinsAAGTGCACA2580096428LDLRc.631_641delinsAAGTGCA (p.Gln211LysfsTer?)
c.373_383delinsAAGTGCA (p.Gln125LysfsTer?)
c.627_637delinsAAGTGCA
c.314-2113_314-2103delinsAAGTGCA (n.314-2113_314-2103delinsAAGTGCA)
c.250_260delinsAAGTGCA (p.Gln84LysfsTer?)
c.314-1286_314-1276delinsAAGTGCA (n.314-1286_314-1276delinsAAGTGCA)
n.523_533delinsAAGTGCA
n.490_500delinsAAGTGCA
 ClinVar
19g.11105280A>CCA404076314LDLRc.632A>C (p.Gln211Pro)
c.374A>C (p.Gln125Pro)
c.628A>C
c.314-2112A>C (n.314-2112A>C)
c.251A>C (p.Gln84Pro)
c.314-1285A>C (n.314-1285A>C)
n.524A>C
n.491A>C
19g.11105280A>GCA404076312LDLRc.632A>G (p.Gln211Arg)
c.374A>G (p.Gln125Arg)
c.628A>G
c.314-2112A>G (n.314-2112A>G)
c.251A>G (p.Gln84Arg)
c.314-1285A>G (n.314-1285A>G)
n.524A>G
n.491A>G
19g.11105280A>TCA404076313LDLRc.632A>T (p.Gln211Leu)
c.374A>T (p.Gln125Leu)
c.628A>T
c.314-2112A>T (n.314-2112A>T)
c.251A>T (p.Gln84Leu)
c.314-1285A>T (n.314-1285A>T)
n.524A>T
n.491A>T
19g.11105280_11105281insCTGACA10584887LDLRc.632_633insCTGA (p.Gln211HisfsTer2)
c.374_375insCTGA (p.Gln125HisfsTer2)
c.628_629insCTGA
c.314-2112_314-2111insCTGA (n.314-2112_314-2111insCTGA)
c.251_252insCTGA (p.Gln84HisfsTer2)
c.314-1285_314-1284insCTGA (n.314-1285_314-1284insCTGA)
n.524_525insCTGA
n.491_492insCTGA
 ClinVar dbSNP
19g.11105281G>ACA505742190LDLRc.633G>A (p.Gln211=)
c.375G>A (p.Gln125=)
c.629G>A
c.314-2111G>A (n.314-2111G>A)
c.252G>A (p.Gln84=)
c.314-1284G>A (n.314-1284G>A)
n.525G>A
n.492G>A
 ClinVar dbSNP
19g.11105281G>CCA404076315LDLRc.633G>C (p.Gln211His)
c.375G>C (p.Gln125His)
c.629G>C
c.314-2111G>C (n.314-2111G>C)
c.252G>C (p.Gln84His)
c.314-1284G>C (n.314-1284G>C)
n.525G>C
n.492G>C
 ClinVar gnomAD v4
19g.11105281G>TCA404076316LDLRc.633G>T (p.Gln211His)
c.375G>T (p.Gln125His)
c.629G>T
c.314-2111G>T (n.314-2111G>T)
c.252G>T (p.Gln84His)
c.314-1284G>T (n.314-1284G>T)
n.525G>T
n.492G>T
19g.11105281_11105287delCA2582473458LDLRc.633_639del (p.Gln211HisfsTer?)
c.375_381del (p.Gln125HisfsTer?)
c.629_635del
c.314-2111_314-2105del (n.314-2111_314-2105del)
c.252_258del (p.Gln84HisfsTer?)
c.314-1284_314-1278del (n.314-1284_314-1278del)
n.525_531del
n.492_498del
 gnomAD v4
19g.11105281_11105282insCCA2695223194LDLRc.633_634insC (p.Phe212LeufsTer4)
c.375_376insC (p.Phe126LeufsTer4)
c.629_630insC
c.314-2111_314-2110insC (n.314-2111_314-2110insC)
c.252_253insC (p.Phe85LeufsTer4)
c.314-1284_314-1283insC (n.314-1284_314-1283insC)
n.525_526insC
n.492_493insC
19g.11105282T>ACA404076317LDLRc.634T>A (p.Phe212Ile)
c.376T>A (p.Phe126Ile)
c.630T>A
c.314-2110T>A (n.314-2110T>A)
c.253T>A (p.Phe85Ile)
c.314-1283T>A (n.314-1283T>A)
n.526T>A
n.493T>A
19g.11105282T>CCA10584888LDLRc.634T>C (p.Phe212Leu)
c.376T>C (p.Phe126Leu)
c.630T>C
c.314-2110T>C (n.314-2110T>C)
c.253T>C (p.Phe85Leu)
c.314-1283T>C (n.314-1283T>C)
n.526T>C
n.493T>C
 ClinVar dbSNP
19g.11105282T>GCA404076318LDLRc.634T>G (p.Phe212Val)
c.376T>G (p.Phe126Val)
c.630T>G
c.314-2110T>G (n.314-2110T>G)
c.253T>G (p.Phe85Val)
c.314-1283T>G (n.314-1283T>G)
n.526T>G
n.493T>G
19g.11105282T=CA2322767328LDLRc.634T= (p.Phe212=)
c.376T= (p.Phe126=)
c.630T=
c.314-2110T= (n.314-2110T=)
c.253T= (p.Phe85=)
c.314-1283T= (n.314-1283T=)
n.526T=
n.493T=
19g.11105283delCA2830773963LDLRc.635del (p.Phe212SerfsTer?)
c.377del (p.Phe126SerfsTer?)
c.631del
c.314-2109del (n.314-2109del)
c.254del (p.Phe85SerfsTer?)
c.314-1282del (n.314-1282del)
n.527del
n.494del
19g.11105283T>ACA10584889LDLRc.635T>A (p.Phe212Tyr)
c.377T>A (p.Phe126Tyr)
c.631T>A
c.314-2109T>A (n.314-2109T>A)
c.254T>A (p.Phe85Tyr)
c.314-1282T>A (n.314-1282T>A)
n.527T>A
n.494T>A
 ClinVar dbSNP
19g.11105283T>CCA16602298LDLRc.635T>C (p.Phe212Ser)
c.377T>C (p.Phe126Ser)
c.631T>C
c.314-2109T>C (n.314-2109T>C)
c.254T>C (p.Phe85Ser)
c.314-1282T>C (n.314-1282T>C)
n.527T>C
n.494T>C
 ClinVar dbSNP
19g.11105283T>GCA404076319LDLRc.635T>G (p.Phe212Cys)
c.377T>G (p.Phe126Cys)
c.631T>G
c.314-2109T>G (n.314-2109T>G)
c.254T>G (p.Phe85Cys)
c.314-1282T>G (n.314-1282T>G)
n.527T>G
n.494T>G
19g.11105283T=CA2322767329LDLRc.635T= (p.Phe212=)
c.377T= (p.Phe126=)
c.631T=
c.314-2109T= (n.314-2109T=)
c.254T= (p.Phe85=)
c.314-1282T= (n.314-1282T=)
n.527T=
n.494T=
19g.11105283_11105284delinsTCCA2322767330LDLRc.635_636delinsTC (p.Phe212=)
c.377_378delinsTC (p.Phe126=)
c.631_632delinsTC
c.314-2109_314-2108delinsTC (n.314-2109_314-2108delinsTC)
c.254_255delinsTC (p.Phe85=)
c.314-1282_314-1281delinsTC (n.314-1282_314-1281delinsTC)
n.527_528delinsTC
n.494_495delinsTC
19g.11105284delCA645509257LDLRc.636del (p.Phe212LeufsTer?)
c.378del (p.Phe126LeufsTer?)
c.632del
c.314-2108del (n.314-2108del)
c.255del (p.Phe85LeufsTer?)
c.314-1281del (n.314-1281del)
n.528del
n.495del
 ClinVar dbSNP
19g.11105284C>ACA404076320LDLRc.636C>A (p.Phe212Leu)
c.378C>A (p.Phe126Leu)
c.632C>A
c.314-2108C>A (n.314-2108C>A)
c.255C>A (p.Phe85Leu)
c.314-1281C>A (n.314-1281C>A)
n.528C>A
n.495C>A
 ClinVar dbSNP
19g.11105284C=CA2322767331LDLRc.636C= (p.Phe212=)
c.378C= (p.Phe126=)
c.632C=
c.314-2108C= (n.314-2108C=)
c.255C= (p.Phe85=)
c.314-1281C= (n.314-1281C=)
n.528C=
n.495C=
19g.11105284C>GCA404076321LDLRc.636C>G (p.Phe212Leu)
c.378C>G (p.Phe126Leu)
c.632C>G
c.314-2108C>G (n.314-2108C>G)
c.255C>G (p.Phe85Leu)
c.314-1281C>G (n.314-1281C>G)
n.528C>G
n.495C>G
19g.11105284C>TCA043331LDLRc.636C>T (p.Phe212=)
c.378C>T (p.Phe126=)
c.632C>T
c.314-2108C>T (n.314-2108C>T)
c.255C>T (p.Phe85=)
c.314-1281C>T (n.314-1281C>T)
n.528C>T
n.495C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105284_11105285delinsCGCA2322767332LDLRc.636_637delinsCG (p.Phe212=)
c.378_379delinsCG (p.Phe126=)
c.632_633delinsCG
c.314-2108_314-2107delinsCG (n.314-2108_314-2107delinsCG)
c.255_256delinsCG (p.Phe85=)
c.314-1281_314-1280delinsCG (n.314-1281_314-1280delinsCG)
n.528_529delinsCG
n.495_496delinsCG
19g.11105285delCA10583774LDLRc.637del (p.Val213SerfsTer?)
c.379del (p.Val127SerfsTer?)
c.633del
c.314-2107del (n.314-2107del)
c.256del (p.Val86SerfsTer?)
c.314-1280del (n.314-1280del)
n.529del
n.496del
 ClinVar dbSNP
19g.11105285G>ACA404076322LDLRc.637G>A (p.Val213Ile)
c.379G>A (p.Val127Ile)
c.633G>A
c.314-2107G>A (n.314-2107G>A)
c.256G>A (p.Val86Ile)
c.314-1280G>A (n.314-1280G>A)
n.529G>A
n.496G>A
 ClinVar dbSNP gnomAD v4
19g.11105285G>CCA404076323LDLRc.637G>C (p.Val213Leu)
c.379G>C (p.Val127Leu)
c.633G>C
c.314-2107G>C (n.314-2107G>C)
c.256G>C (p.Val86Leu)
c.314-1280G>C (n.314-1280G>C)
n.529G>C
n.496G>C
19g.11105285G>TCA404076324LDLRc.637G>T (p.Val213Phe)
c.379G>T (p.Val127Phe)
c.633G>T
c.314-2107G>T (n.314-2107G>T)
c.256G>T (p.Val86Phe)
c.314-1280G>T (n.314-1280G>T)
n.529G>T
n.496G>T
19g.11105286T>ACA10584890LDLRc.638T>A (p.Val213Asp)
c.380T>A (p.Val127Asp)
c.634T>A
c.314-2106T>A (n.314-2106T>A)
c.257T>A (p.Val86Asp)
c.314-1279T>A (n.314-1279T>A)
n.530T>A
n.497T>A
 ClinVar dbSNP
19g.11105286T>CCA404076325LDLRc.638T>C (p.Val213Ala)
c.380T>C (p.Val127Ala)
c.634T>C
c.314-2106T>C (n.314-2106T>C)
c.257T>C (p.Val86Ala)
c.314-1279T>C (n.314-1279T>C)
n.530T>C
n.497T>C
 ClinVar
19g.11105286T>GCA404076326LDLRc.638T>G (p.Val213Gly)
c.380T>G (p.Val127Gly)
c.634T>G
c.314-2106T>G (n.314-2106T>G)
c.257T>G (p.Val86Gly)
c.314-1279T>G (n.314-1279T>G)
n.530T>G
n.497T>G
 ClinVar dbSNP
19g.11105286T=CA2322767333LDLRc.638T= (p.Val213=)
c.380T= (p.Val127=)
c.634T=
c.314-2106T= (n.314-2106T=)
c.257T= (p.Val86=)
c.314-1279T= (n.314-1279T=)
n.530T=
n.497T=
19g.11105287C>ACA505742192LDLRc.639C>A (p.Val213=)
c.381C>A (p.Val127=)
c.635C>A
c.314-2105C>A (n.314-2105C>A)
c.258C>A (p.Val86=)
c.314-1278C>A (n.314-1278C>A)
n.531C>A
n.498C>A
19g.11105287C>GCA505742194LDLRc.639C>G (p.Val213=)
c.381C>G (p.Val127=)
c.635C>G
c.314-2105C>G (n.314-2105C>G)
c.258C>G (p.Val86=)
c.314-1278C>G (n.314-1278C>G)
n.531C>G
n.498C>G
19g.11105287C>TCA505742193LDLRc.639C>T (p.Val213=)
c.381C>T (p.Val127=)
c.635C>T
c.314-2105C>T (n.314-2105C>T)
c.258C>T (p.Val86=)
c.314-1278C>T (n.314-1278C>T)
n.531C>T
n.498C>T
 ClinVar
19g.11105287_11105291delCA2830763868LDLRc.639_643del (p.Cys214LeufsTer?)
c.381_385del (p.Cys128LeufsTer?)
c.635_639del
c.314-2105_314-2101del (n.314-2105_314-2101del)
c.258_262del (p.Cys87LeufsTer?)
c.314-1278_314-1274del (n.314-1278_314-1274del)
n.531_535del
n.498_502del
19g.11105287_11105291delinsCTGTGCA2322767334LDLRc.639_643delinsCTGTG (p.Val213=)
c.381_385delinsCTGTG (p.Val127=)
c.635_639delinsCTGTG
c.314-2105_314-2101delinsCTGTG (n.314-2105_314-2101delinsCTGTG)
c.258_262delinsCTGTG (p.Val86=)
c.314-1278_314-1274delinsCTGTG (n.314-1278_314-1274delinsCTGTG)
n.531_535delinsCTGTG
n.498_502delinsCTGTG
19g.11105288delCA2580096431LDLRc.640del (p.Cys214ValfsTer?)
c.382del (p.Cys128ValfsTer?)
c.636del
c.314-2104del (n.314-2104del)
c.259del (p.Cys87ValfsTer?)
c.314-1277del (n.314-1277del)
n.532del
n.499del
 ClinVar
19g.11105288T>ACA404076327LDLRc.640T>A (p.Cys214Ser)
c.382T>A (p.Cys128Ser)
c.636T>A
c.314-2104T>A (n.314-2104T>A)
c.259T>A (p.Cys87Ser)
c.314-1277T>A (n.314-1277T>A)
n.532T>A
n.499T>A
 gnomAD v4
19g.11105288T>CCA10584891LDLRc.640T>C (p.Cys214Arg)
c.382T>C (p.Cys128Arg)
c.636T>C
c.314-2104T>C (n.314-2104T>C)
c.259T>C (p.Cys87Arg)
c.314-1277T>C (n.314-1277T>C)
n.532T>C
n.499T>C
 ClinVar dbSNP
19g.11105288T>GCA404076328LDLRc.640T>G (p.Cys214Gly)
c.382T>G (p.Cys128Gly)
c.636T>G
c.314-2104T>G (n.314-2104T>G)
c.259T>G (p.Cys87Gly)
c.314-1277T>G (n.314-1277T>G)
n.532T>G
n.499T>G
 ClinVar dbSNP
19g.11105288T=CA2322767335LDLRc.640T= (p.Cys214=)
c.382T= (p.Cys128=)
c.636T=
c.314-2104T= (n.314-2104T=)
c.259T= (p.Cys87=)
c.314-1277T= (n.314-1277T=)
n.532T=
n.499T=
19g.11105288_11105291delCA10584892LDLRc.640_643del (p.Cys214ThrfsTer?)
c.382_385del (p.Cys128ThrfsTer?)
c.636_639del
c.314-2104_314-2101del (n.314-2104_314-2101del)
c.259_262del (p.Cys87ThrfsTer?)
c.314-1277_314-1274del (n.314-1277_314-1274del)
n.532_535del
n.499_502del
 ClinVar dbSNP
19g.11105289G>ACA16602299LDLRc.641G>A (p.Cys214Tyr)
c.383G>A (p.Cys128Tyr)
c.637G>A
c.314-2103G>A (n.314-2103G>A)
c.260G>A (p.Cys87Tyr)
c.314-1276G>A (n.314-1276G>A)
n.533G>A
n.500G>A
 ClinVar dbSNP
19g.11105289G>CCA16609803LDLRc.641G>C (p.Cys214Ser)
c.383G>C (p.Cys128Ser)
c.637G>C
c.314-2103G>C (n.314-2103G>C)
c.260G>C (p.Cys87Ser)
c.314-1276G>C (n.314-1276G>C)
n.533G>C
n.500G>C
 ClinVar dbSNP
19g.11105289G=CA2322767336LDLRc.641G= (p.Cys214=)
c.383G= (p.Cys128=)
c.637G=
c.314-2103G= (n.314-2103G=)
c.260G= (p.Cys87=)
c.314-1276G= (n.314-1276G=)
n.533G=
n.500G=
19g.11105289G>TCA10584893LDLRc.641G>T (p.Cys214Phe)
c.383G>T (p.Cys128Phe)
c.637G>T
c.314-2103G>T (n.314-2103G>T)
c.260G>T (p.Cys87Phe)
c.314-1276G>T (n.314-1276G>T)
n.533G>T
n.500G>T
 ClinVar dbSNP
19g.11105290T>ACA404076329LDLRc.642T>A (p.Cys214Ter)
c.384T>A (p.Cys128Ter)
c.638T>A
c.314-2102T>A (n.314-2102T>A)
c.261T>A (p.Cys87Ter)
c.314-1275T>A (n.314-1275T>A)
n.534T>A
n.501T>A
19g.11105290T>CCA305296771LDLRc.642T>C (p.Cys214=)
c.384T>C (p.Cys128=)
c.638T>C
c.314-2102T>C (n.314-2102T>C)
c.261T>C (p.Cys87=)
c.314-1275T>C (n.314-1275T>C)
n.534T>C
n.501T>C
 dbSNP
19g.11105290T>GCA404076330LDLRc.642T>G (p.Cys214Trp)
c.384T>G (p.Cys128Trp)
c.638T>G
c.314-2102T>G (n.314-2102T>G)
c.261T>G (p.Cys87Trp)
c.314-1275T>G (n.314-1275T>G)
n.534T>G
n.501T>G
19g.11105290T=CA2322767337LDLRc.642T= (p.Cys214=)
c.384T= (p.Cys128=)
c.638T=
c.314-2102T= (n.314-2102T=)
c.261T= (p.Cys87=)
c.314-1275T= (n.314-1275T=)
n.534T=
n.501T=
19g.11105291G>ACA404076331LDLRc.643G>A (p.Asp215Asn)
c.385G>A (p.Asp129Asn)
c.639G>A
c.314-2101G>A (n.314-2101G>A)
c.262G>A (p.Asp88Asn)
c.314-1274G>A (n.314-1274G>A)
n.535G>A
n.502G>A
 ClinVar dbSNP
19g.11105291G>CCA404076332LDLRc.643G>C (p.Asp215His)
c.385G>C (p.Asp129His)
c.639G>C
c.314-2101G>C (n.314-2101G>C)
c.262G>C (p.Asp88His)
c.314-1274G>C (n.314-1274G>C)
n.535G>C
n.502G>C
19g.11105291G=CA2322767338LDLRc.643G= (p.Asp215=)
c.385G= (p.Asp129=)
c.639G=
c.314-2101G= (n.314-2101G=)
c.262G= (p.Asp88=)
c.314-1274G= (n.314-1274G=)
n.535G=
n.502G=
19g.11105291G>TCA404076333LDLRc.643G>T (p.Asp215Tyr)
c.385G>T (p.Asp129Tyr)
c.639G>T
c.314-2101G>T (n.314-2101G>T)
c.262G>T (p.Asp88Tyr)
c.314-1274G>T (n.314-1274G>T)
n.535G>T
n.502G>T
19g.11105292A=CA2322767339LDLRc.644A= (p.Asp215=)
c.386A= (p.Asp129=)
c.640A=
c.314-2100A= (n.314-2100A=)
c.263A= (p.Asp88=)
c.314-1273A= (n.314-1273A=)
n.536A=
n.503A=
19g.11105292A>CCA404076334LDLRc.644A>C (p.Asp215Ala)
c.386A>C (p.Asp129Ala)
c.640A>C
c.314-2100A>C (n.314-2100A>C)
c.263A>C (p.Asp88Ala)
c.314-1273A>C (n.314-1273A>C)
n.536A>C
n.503A>C
 ClinVar
19g.11105292A>GCA10584894LDLRc.644A>G (p.Asp215Gly)
c.386A>G (p.Asp129Gly)
c.640A>G
c.314-2100A>G (n.314-2100A>G)
c.263A>G (p.Asp88Gly)
c.314-1273A>G (n.314-1273A>G)
n.536A>G
n.503A>G
 ClinVar dbSNP
19g.11105292A>TCA404076335LDLRc.644A>T (p.Asp215Val)
c.386A>T (p.Asp129Val)
c.640A>T
c.314-2100A>T (n.314-2100A>T)
c.263A>T (p.Asp88Val)
c.314-1273A>T (n.314-1273A>T)
n.536A>T
n.503A>T
19g.11105293C>ACA404076336LDLRc.645C>A (p.Asp215Glu)
c.387C>A (p.Asp129Glu)
c.641C>A
c.314-2099C>A (n.314-2099C>A)
c.264C>A (p.Asp88Glu)
c.314-1272C>A (n.314-1272C>A)
n.537C>A
n.504C>A
19g.11105293C>GCA404076337LDLRc.645C>G (p.Asp215Glu)
c.387C>G (p.Asp129Glu)
c.641C>G
c.314-2099C>G (n.314-2099C>G)
c.264C>G (p.Asp88Glu)
c.314-1272C>G (n.314-1272C>G)
n.537C>G
n.504C>G
 ClinVar
19g.11105293C>TCA505742195LDLRc.645C>T (p.Asp215=)
c.387C>T (p.Asp129=)
c.641C>T
c.314-2099C>T (n.314-2099C>T)
c.264C>T (p.Asp88=)
c.314-1272C>T (n.314-1272C>T)
n.537C>T
n.504C>T
19g.11105300_11105323delCA2573050569LDLRc.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
19g.11105294T>ACA10584895LDLRc.646T>A (p.Ser216Thr)
c.388T>A (p.Ser130Thr)
c.642T>A
c.314-2098T>A (n.314-2098T>A)
c.265T>A (p.Ser89Thr)
c.314-1271T>A (n.314-1271T>A)
n.538T>A
n.505T>A
 ClinVar dbSNP gnomAD v4
19g.11105294T>CCA10584896LDLRc.646T>C (p.Ser216Pro)
c.388T>C (p.Ser130Pro)
c.642T>C
c.314-2098T>C (n.314-2098T>C)
c.265T>C (p.Ser89Pro)
c.314-1271T>C (n.314-1271T>C)
n.538T>C
n.505T>C
 ClinVar dbSNP
19g.11105294T>GCA404076338LDLRc.646T>G (p.Ser216Ala)
c.388T>G (p.Ser130Ala)
c.642T>G
c.314-2098T>G (n.314-2098T>G)
c.265T>G (p.Ser89Ala)
c.314-1271T>G (n.314-1271T>G)
n.538T>G
n.505T>G
19g.11105294T=CA2322767340LDLRc.646T= (p.Ser216=)
c.388T= (p.Ser130=)
c.642T=
c.314-2098T= (n.314-2098T=)
c.265T= (p.Ser89=)
c.314-1271T= (n.314-1271T=)
n.538T=
n.505T=
19g.11105295C>ACA404076340LDLRc.647C>A (p.Ser216Ter)
c.389C>A (p.Ser130Ter)
c.643C>A
c.314-2097C>A (n.314-2097C>A)
c.266C>A (p.Ser89Ter)
c.314-1270C>A (n.314-1270C>A)
n.539C>A
n.506C>A
19g.11105295C=CA2322767341LDLRc.647C= (p.Ser216=)
c.389C= (p.Ser130=)
c.643C=
c.314-2097C= (n.314-2097C=)
c.266C= (p.Ser89=)
c.314-1270C= (n.314-1270C=)
n.539C=
n.506C=
19g.11105295C>GCA10584897LDLRc.647C>G (p.Ser216Ter)
c.389C>G (p.Ser130Ter)
c.643C>G
c.314-2097C>G (n.314-2097C>G)
c.266C>G (p.Ser89Ter)
c.314-1270C>G (n.314-1270C>G)
n.539C>G
n.506C>G
 ClinVar dbSNP
19g.11105295C>TCA404076339LDLRc.647C>T (p.Ser216Leu)
c.389C>T (p.Ser130Leu)
c.643C>T
c.314-2097C>T (n.314-2097C>T)
c.266C>T (p.Ser89Leu)
c.314-1270C>T (n.314-1270C>T)
n.539C>T
n.506C>T
19g.11105295dupCA10584898LDLRc.647dup (p.Asp217ArgfsTer?)
c.389dup (p.Asp131ArgfsTer?)
c.643dup
c.314-2097dup (n.314-2097dup)
c.266dup (p.Asp90ArgfsTer?)
c.314-1270dup (n.314-1270dup)
n.539dup
n.506dup
 ClinVar dbSNP gnomAD v4
19g.11105296A=CA2322767342LDLRc.648A= (p.Ser216=)
c.390A= (p.Ser130=)
c.644A=
c.314-2096A= (n.314-2096A=)
c.267A= (p.Ser89=)
c.314-1269A= (n.314-1269A=)
n.540A=
n.507A=
19g.11105296A>CCA505742197LDLRc.648A>C (p.Ser216=)
c.390A>C (p.Ser130=)
c.644A>C
c.314-2096A>C (n.314-2096A>C)
c.267A>C (p.Ser89=)
c.314-1269A>C (n.314-1269A>C)
n.540A>C
n.507A>C
19g.11105296A>GCA043347LDLRc.648A>G (p.Ser216=)
c.390A>G (p.Ser130=)
c.644A>G
c.314-2096A>G (n.314-2096A>G)
c.267A>G (p.Ser89=)
c.314-1269A>G (n.314-1269A>G)
n.540A>G
n.507A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105296A>TCA505742196LDLRc.648A>T (p.Ser216=)
c.390A>T (p.Ser130=)
c.644A>T
c.314-2096A>T (n.314-2096A>T)
c.267A>T (p.Ser89=)
c.314-1269A>T (n.314-1269A>T)
n.540A>T
n.507A>T
19g.11105297G>ACA404076341LDLRc.649G>A (p.Asp217Asn)
c.391G>A (p.Asp131Asn)
c.645G>A
c.314-2095G>A (n.314-2095G>A)
c.268G>A (p.Asp90Asn)
c.314-1268G>A (n.314-1268G>A)
n.541G>A
n.508G>A
 dbSNP
19g.11105297G>CCA10584899LDLRc.649G>C (p.Asp217His)
c.391G>C (p.Asp131His)
c.645G>C
c.314-2095G>C (n.314-2095G>C)
c.268G>C (p.Asp90His)
c.314-1268G>C (n.314-1268G>C)
n.541G>C
n.508G>C
 ClinVar dbSNP COSMIC
19g.11105297G=CA2322767343LDLRc.649G= (p.Asp217=)
c.391G= (p.Asp131=)
c.645G=
c.314-2095G= (n.314-2095G=)
c.268G= (p.Asp90=)
c.314-1268G= (n.314-1268G=)
n.541G=
n.508G=
19g.11105297G>TCA404076342LDLRc.649G>T (p.Asp217Tyr)
c.391G>T (p.Asp131Tyr)
c.645G>T
c.314-2095G>T (n.314-2095G>T)
c.268G>T (p.Asp90Tyr)
c.314-1268G>T (n.314-1268G>T)
n.541G>T
n.508G>T
19g.11105298A=CA2322767344LDLRc.650A= (p.Asp217=)
c.392A= (p.Asp131=)
c.646A=
c.314-2094A= (n.314-2094A=)
c.269A= (p.Asp90=)
c.314-1267A= (n.314-1267A=)
n.542A=
n.509A=
19g.11105298A>CCA404076343LDLRc.650A>C (p.Asp217Ala)
c.392A>C (p.Asp131Ala)
c.646A>C
c.314-2094A>C (n.314-2094A>C)
c.269A>C (p.Asp90Ala)
c.314-1267A>C (n.314-1267A>C)
n.542A>C
n.509A>C
19g.11105298A>GCA023701LDLRc.650A>G (p.Asp217Gly)
c.392A>G (p.Asp131Gly)
c.646A>G
c.314-2094A>G (n.314-2094A>G)
c.269A>G (p.Asp90Gly)
c.314-1267A>G (n.314-1267A>G)
n.542A>G
n.509A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105298A>TCA404076344LDLRc.650A>T (p.Asp217Val)
c.392A>T (p.Asp131Val)
c.646A>T
c.314-2094A>T (n.314-2094A>T)
c.269A>T (p.Asp90Val)
c.314-1267A>T (n.314-1267A>T)
n.542A>T
n.509A>T
19g.11105299C>ACA043380LDLRc.651C>A (p.Asp217Glu)
c.393C>A (p.Asp131Glu)
c.647C>A
c.314-2093C>A (n.314-2093C>A)
c.270C>A (p.Asp90Glu)
c.314-1266C>A (n.314-1266C>A)
n.543C>A
n.510C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105299C=CA2322767345LDLRc.651C= (p.Asp217=)
c.393C= (p.Asp131=)
c.647C=
c.314-2093C= (n.314-2093C=)
c.270C= (p.Asp90=)
c.314-1266C= (n.314-1266C=)
n.543C=
n.510C=
19g.11105299C>GCA404076345LDLRc.651C>G (p.Asp217Glu)
c.393C>G (p.Asp131Glu)
c.647C>G
c.314-2093C>G (n.314-2093C>G)
c.270C>G (p.Asp90Glu)
c.314-1266C>G (n.314-1266C>G)
n.543C>G
n.510C>G
 gnomAD v4
19g.11105299C>TCA505742198LDLRc.651C>T (p.Asp217=)
c.393C>T (p.Asp131=)
c.647C>T
c.314-2093C>T (n.314-2093C>T)
c.270C>T (p.Asp90=)
c.314-1266C>T (n.314-1266C>T)
n.543C>T
n.510C>T
 gnomAD v4
19g.11105300delCA2695223195LDLRc.652del (p.Arg218GlyfsTer?)
c.394del (p.Arg132GlyfsTer?)
c.648del
c.314-2092del (n.314-2092del)
c.271del (p.Arg91GlyfsTer?)
c.314-1265del (n.314-1265del)
n.544del
n.511del
19g.11105300C>ACA505742199LDLRc.652C>A (p.Arg218=)
c.394C>A (p.Arg132=)
c.648C>A
c.314-2092C>A (n.314-2092C>A)
c.271C>A (p.Arg91=)
c.314-1265C>A (n.314-1265C>A)
n.544C>A
n.511C>A
 ClinVar dbSNP gnomAD v4
19g.11105300C=CA2322767346LDLRc.652C= (p.Arg218=)
c.394C= (p.Arg132=)
c.648C=
c.314-2092C= (n.314-2092C=)
c.271C= (p.Arg91=)
c.314-1265C= (n.314-1265C=)
n.544C=
n.511C=
19g.11105300C>GCA404076346LDLRc.652C>G (p.Arg218Gly)
c.394C>G (p.Arg132Gly)
c.648C>G
c.314-2092C>G (n.314-2092C>G)
c.271C>G (p.Arg91Gly)
c.314-1265C>G (n.314-1265C>G)
n.544C>G
n.511C>G
 ClinVar dbSNP
19g.11105300C>TCA043402LDLRc.652C>T (p.Arg218Trp)
c.394C>T (p.Arg132Trp)
c.648C>T
c.314-2092C>T (n.314-2092C>T)
c.271C>T (p.Arg91Trp)
c.314-1265C>T (n.314-1265C>T)
n.544C>T
n.511C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.11105301G>ACA043409LDLRc.653G>A (p.Arg218Gln)
c.395G>A (p.Arg132Gln)
c.649G>A
c.314-2091G>A (n.314-2091G>A)
c.272G>A (p.Arg91Gln)
c.314-1264G>A (n.314-1264G>A)
n.545G>A
n.512G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105301G>CCA404076347LDLRc.653G>C (p.Arg218Pro)
c.395G>C (p.Arg132Pro)
c.649G>C
c.314-2091G>C (n.314-2091G>C)
c.272G>C (p.Arg91Pro)
c.314-1264G>C (n.314-1264G>C)
n.545G>C
n.512G>C
19g.11105301G=CA2322767347LDLRc.653G= (p.Arg218=)
c.395G= (p.Arg132=)
c.649G=
c.314-2091G= (n.314-2091G=)
c.272G= (p.Arg91=)
c.314-1264G= (n.314-1264G=)
n.545G=
n.512G=
19g.11105301G>TCA404076348LDLRc.653G>T (p.Arg218Leu)
c.395G>T (p.Arg132Leu)
c.649G>T
c.314-2091G>T (n.314-2091G>T)
c.272G>T (p.Arg91Leu)
c.314-1264G>T (n.314-1264G>T)
n.545G>T
n.512G>T
19g.11105303dupCA10584901LDLRc.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
19g.11105302G>ACA505742201LDLRc.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
19g.11105302G>CCA505742202LDLRc.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
19g.11105302G=CA2322767348LDLRc.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=
19g.11105302G>TCA505742203LDLRc.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
19g.11105303G>ACA10584900LDLRc.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
19g.11105303G>CCA404076349LDLRc.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
19g.11105303G=CA2322767349LDLRc.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=
19g.11105303G>TCA404076350LDLRc.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
19g.11105304A=CA2322767350LDLRc.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=
19g.11105304A>CCA404076351LDLRc.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
19g.11105304A>GCA404076353LDLRc.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
19g.11105304A>TCA404076352LDLRc.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
19g.11105305C>ACA404076354LDLRc.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
19g.11105305C=CA2322767351LDLRc.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=
19g.11105305C>GCA404076355LDLRc.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
19g.11105305C>TCA505742204LDLRc.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
19g.11105306T>ACA404076356LDLRc.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
19g.11105306T>CCA10576281LDLRc.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
19g.11105306T>GCA404076357LDLRc.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
19g.11105306T=CA2322767352LDLRc.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=
19g.11105307G>ACA10584902LDLRc.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
19g.11105307G>CCA404076358LDLRc.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
19g.11105307G=CA2322767353LDLRc.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=
19g.11105307G>TCA10584903LDLRc.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

Number of alleles fetched