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
 ClinVar
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.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.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.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.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.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.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
 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.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
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
19g.11105308C>ACA404076359LDLRc.660C>A (p.Cys220Ter)
c.402C>A (p.Cys134Ter)
c.656C>A
c.314-2084C>A (n.314-2084C>A)
c.279C>A (p.Cys93Ter)
c.314-1257C>A (n.314-1257C>A)
c.2C>A
n.552C>A
n.519C>A
19g.11105308C=CA2322767354LDLRc.660C= (p.Cys220=)
c.402C= (p.Cys134=)
c.656C=
c.314-2084C= (n.314-2084C=)
c.279C= (p.Cys93=)
c.314-1257C= (n.314-1257C=)
c.2C=
n.552C=
n.519C=
19g.11105308C>GCA10584904LDLRc.660C>G (p.Cys220Trp)
c.402C>G (p.Cys134Trp)
c.656C>G
c.314-2084C>G (n.314-2084C>G)
c.279C>G (p.Cys93Trp)
c.314-1257C>G (n.314-1257C>G)
c.2C>G
n.552C>G
n.519C>G
 ClinVar dbSNP
19g.11105308C>TCA505742205LDLRc.660C>T (p.Cys220=)
c.402C>T (p.Cys134=)
c.656C>T
c.314-2084C>T (n.314-2084C>T)
c.279C>T (p.Cys93=)
c.314-1257C>T (n.314-1257C>T)
c.2C>T
n.552C>T
n.519C>T
 ClinVar dbSNP gnomAD v4
19g.11105309T>ACA404076361LDLRc.661T>A (p.Leu221Met)
c.403T>A (p.Leu135Met)
c.657T>A
c.314-2083T>A (n.314-2083T>A)
c.280T>A (p.Leu94Met)
c.314-1256T>A (n.314-1256T>A)
c.3T>A
n.553T>A
n.520T>A
19g.11105309T>CCA505742206LDLRc.661T>C (p.Leu221=)
c.403T>C (p.Leu135=)
c.657T>C
c.314-2083T>C (n.314-2083T>C)
c.280T>C (p.Leu94=)
c.314-1256T>C (n.314-1256T>C)
c.3T>C
n.553T>C
n.520T>C
 ClinVar
19g.11105309T>GCA404076360LDLRc.661T>G (p.Leu221Val)
c.403T>G (p.Leu135Val)
c.657T>G
c.314-2083T>G (n.314-2083T>G)
c.280T>G (p.Leu94Val)
c.314-1256T>G (n.314-1256T>G)
c.3T>G
n.553T>G
n.520T>G
 gnomAD v4
19g.11105310dupCA632115394LDLRc.662dup (p.Leu221PhefsTer?)
c.404dup (p.Leu135PhefsTer?)
c.658dup
c.314-2082dup (n.314-2082dup)
c.281dup (p.Leu94PhefsTer?)
c.314-1255dup (n.314-1255dup)
c.4dup
n.554dup
n.521dup
 dbSNP gnomAD v2 gnomAD v4
19g.11105310T>ACA404076362LDLRc.662T>A (p.Leu221Ter)
c.404T>A (p.Leu135Ter)
c.658T>A
c.314-2082T>A (n.314-2082T>A)
c.281T>A (p.Leu94Ter)
c.314-1255T>A (n.314-1255T>A)
c.4T>A
n.554T>A
n.521T>A
19g.11105310T>CCA404076363LDLRc.662T>C (p.Leu221Ser)
c.404T>C (p.Leu135Ser)
c.658T>C
c.314-2082T>C (n.314-2082T>C)
c.281T>C (p.Leu94Ser)
c.314-1255T>C (n.314-1255T>C)
c.4T>C
n.554T>C
n.521T>C
19g.11105310T>GCA404076364LDLRc.662T>G (p.Leu221Trp)
c.404T>G (p.Leu135Trp)
c.658T>G
c.314-2082T>G (n.314-2082T>G)
c.281T>G (p.Leu94Trp)
c.314-1255T>G (n.314-1255T>G)
c.4T>G
n.554T>G
n.521T>G
 dbSNP
19g.11105310T=CA2322767355LDLRc.662T= (p.Leu221=)
c.404T= (p.Leu135=)
c.658T=
c.314-2082T= (n.314-2082T=)
c.281T= (p.Leu94=)
c.314-1255T= (n.314-1255T=)
c.4T=
n.554T=
n.521T=
19g.11105311G>ACA505742207LDLRc.663G>A (p.Leu221=)
c.405G>A (p.Leu135=)
c.659G>A
c.314-2081G>A (n.314-2081G>A)
c.282G>A (p.Leu94=)
c.314-1254G>A (n.314-1254G>A)
c.5G>A
n.555G>A
n.522G>A
19g.11105311G>CCA404076365LDLRc.663G>C (p.Leu221Phe)
c.405G>C (p.Leu135Phe)
c.659G>C
c.314-2081G>C (n.314-2081G>C)
c.282G>C (p.Leu94Phe)
c.314-1254G>C (n.314-1254G>C)
c.5G>C
n.555G>C
n.522G>C
 dbSNP
19g.11105311G=CA2322767356LDLRc.663G= (p.Leu221=)
c.405G= (p.Leu135=)
c.659G=
c.314-2081G= (n.314-2081G=)
c.282G= (p.Leu94=)
c.314-1254G= (n.314-1254G=)
c.5G=
n.555G=
n.522G=
19g.11105311G>TCA404076366LDLRc.663G>T (p.Leu221Phe)
c.405G>T (p.Leu135Phe)
c.659G>T
c.314-2081G>T (n.314-2081G>T)
c.282G>T (p.Leu94Phe)
c.314-1254G>T (n.314-1254G>T)
c.5G>T
n.555G>T
n.522G>T
19g.11105313_11105316dupCA2695238677LDLRc.665_668dup (p.Ser224ArgfsTer?)
c.407_410dup (p.Ser138ArgfsTer?)
c.661_664dup
c.314-2079_314-2076dup (n.314-2079_314-2076dup)
c.284_287dup (p.Ser97ArgfsTer?)
c.314-1252_314-1249dup (n.314-1252_314-1249dup)
c.7_10dup
n.557_560dup
n.524_527dup
19g.11105312G>ACA404076369LDLRc.664G>A (p.Asp222Asn)
c.406G>A (p.Asp136Asn)
c.660G>A
c.314-2080G>A (n.314-2080G>A)
c.283G>A (p.Asp95Asn)
c.314-1253G>A (n.314-1253G>A)
c.6G>A
n.556G>A
n.523G>A
 ClinVar dbSNP gnomAD v4
19g.11105312G>CCA404076368LDLRc.664G>C (p.Asp222His)
c.406G>C (p.Asp136His)
c.660G>C
c.314-2080G>C (n.314-2080G>C)
c.283G>C (p.Asp95His)
c.314-1253G>C (n.314-1253G>C)
c.6G>C
n.556G>C
n.523G>C
19g.11105312G=CA2322767357LDLRc.664G= (p.Asp222=)
c.406G= (p.Asp136=)
c.660G=
c.314-2080G= (n.314-2080G=)
c.283G= (p.Asp95=)
c.314-1253G= (n.314-1253G=)
c.6G=
n.556G=
n.523G=
19g.11105312G>TCA404076367LDLRc.664G>T (p.Asp222Tyr)
c.406G>T (p.Asp136Tyr)
c.660G>T
c.314-2080G>T (n.314-2080G>T)
c.283G>T (p.Asp95Tyr)
c.314-1253G>T (n.314-1253G>T)
c.6G>T
n.556G>T
n.523G>T
19g.11105313A=CA2322767358LDLRc.665A= (p.Asp222=)
c.407A= (p.Asp136=)
c.661A=
c.314-2079A= (n.314-2079A=)
c.284A= (p.Asp95=)
c.314-1252A= (n.314-1252A=)
c.7A=
n.557A=
n.524A=
19g.11105313A>CCA404076370LDLRc.665A>C (p.Asp222Ala)
c.407A>C (p.Asp136Ala)
c.661A>C
c.314-2079A>C (n.314-2079A>C)
c.284A>C (p.Asp95Ala)
c.314-1252A>C (n.314-1252A>C)
c.7A>C
n.557A>C
n.524A>C
19g.11105313A>GCA404076371LDLRc.665A>G (p.Asp222Gly)
c.407A>G (p.Asp136Gly)
c.661A>G
c.314-2079A>G (n.314-2079A>G)
c.284A>G (p.Asp95Gly)
c.314-1252A>G (n.314-1252A>G)
c.7A>G
n.557A>G
n.524A>G
19g.11105313A>TCA10584905LDLRc.665A>T (p.Asp222Val)
c.407A>T (p.Asp136Val)
c.661A>T
c.314-2079A>T (n.314-2079A>T)
c.284A>T (p.Asp95Val)
c.314-1252A>T (n.314-1252A>T)
c.7A>T
n.557A>T
n.524A>T
 ClinVar dbSNP
19g.11105314delCA2695223196LDLRc.666del (p.Asp222GlufsTer?)
c.408del (p.Asp136GlufsTer?)
c.662del
c.314-2078del (n.314-2078del)
c.285del (p.Asp95GlufsTer?)
c.314-1251del (n.314-1251del)
c.8del
n.558del
n.525del
19g.11105314C>ACA404076372LDLRc.666C>A (p.Asp222Glu)
c.408C>A (p.Asp136Glu)
c.662C>A
c.314-2078C>A (n.314-2078C>A)
c.285C>A (p.Asp95Glu)
c.314-1251C>A (n.314-1251C>A)
c.8C>A
n.558C>A
n.525C>A
19g.11105314C=CA2322767359LDLRc.666C= (p.Asp222=)
c.408C= (p.Asp136=)
c.662C=
c.314-2078C= (n.314-2078C=)
c.285C= (p.Asp95=)
c.314-1251C= (n.314-1251C=)
c.8C=
n.558C=
n.525C=
19g.11105314C>GCA404076373LDLRc.666C>G (p.Asp222Glu)
c.408C>G (p.Asp136Glu)
c.662C>G
c.314-2078C>G (n.314-2078C>G)
c.285C>G (p.Asp95Glu)
c.314-1251C>G (n.314-1251C>G)
c.8C>G
n.558C>G
n.525C>G
 gnomAD v4
19g.11105314C>TCA043421LDLRc.666C>T (p.Asp222=)
c.408C>T (p.Asp136=)
c.662C>T
c.314-2078C>T (n.314-2078C>T)
c.285C>T (p.Asp95=)
c.314-1251C>T (n.314-1251C>T)
c.8C>T
n.558C>T
n.525C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105315G>ACA023703LDLRc.667G>A (p.Gly223Ser)
c.409G>A (p.Gly137Ser)
c.663G>A
c.314-2077G>A (n.314-2077G>A)
c.286G>A (p.Gly96Ser)
c.314-1250G>A (n.314-1250G>A)
c.9G>A
n.559G>A
n.526G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105315G>CCA404076374LDLRc.667G>C (p.Gly223Arg)
c.409G>C (p.Gly137Arg)
c.663G>C
c.314-2077G>C (n.314-2077G>C)
c.286G>C (p.Gly96Arg)
c.314-1250G>C (n.314-1250G>C)
c.9G>C
n.559G>C
n.526G>C
19g.11105315G=CA2322767360LDLRc.667G= (p.Gly223=)
c.409G= (p.Gly137=)
c.663G=
c.314-2077G= (n.314-2077G=)
c.286G= (p.Gly96=)
c.314-1250G= (n.314-1250G=)
c.9G=
n.559G=
n.526G=
19g.11105315G>TCA10584906LDLRc.667G>T (p.Gly223Cys)
c.409G>T (p.Gly137Cys)
c.663G>T
c.314-2077G>T (n.314-2077G>T)
c.286G>T (p.Gly96Cys)
c.314-1250G>T (n.314-1250G>T)
c.9G>T
n.559G>T
n.526G>T
 ClinVar dbSNP gnomAD v4
19g.11105316G>ACA404076375LDLRc.668G>A (p.Gly223Asp)
c.410G>A (p.Gly137Asp)
c.664G>A
c.314-2076G>A (n.314-2076G>A)
c.287G>A (p.Gly96Asp)
c.314-1249G>A (n.314-1249G>A)
c.10G>A
n.560G>A
n.527G>A
 gnomAD v4
19g.11105316G>CCA404076376LDLRc.668G>C (p.Gly223Ala)
c.410G>C (p.Gly137Ala)
c.664G>C
c.314-2076G>C (n.314-2076G>C)
c.287G>C (p.Gly96Ala)
c.314-1249G>C (n.314-1249G>C)
c.10G>C
n.560G>C
n.527G>C
19g.11105316G=CA2322767361LDLRc.668G= (p.Gly223=)
c.410G= (p.Gly137=)
c.664G=
c.314-2076G= (n.314-2076G=)
c.287G= (p.Gly96=)
c.314-1249G= (n.314-1249G=)
c.10G=
n.560G=
n.527G=
19g.11105316G>TCA023705LDLRc.668G>T (p.Gly223Val)
c.410G>T (p.Gly137Val)
c.664G>T
c.314-2076G>T (n.314-2076G>T)
c.287G>T (p.Gly96Val)
c.314-1249G>T (n.314-1249G>T)
c.10G>T
n.560G>T
n.527G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105317C>ACA505742209LDLRc.669C>A (p.Gly223=)
c.411C>A (p.Gly137=)
c.665C>A
c.314-2075C>A (n.314-2075C>A)
c.288C>A (p.Gly96=)
c.314-1248C>A (n.314-1248C>A)
c.11C>A
n.561C>A
n.528C>A
 dbSNP gnomAD v2 gnomAD v4
19g.11105317C=CA2322767362LDLRc.669C= (p.Gly223=)
c.411C= (p.Gly137=)
c.665C=
c.314-2075C= (n.314-2075C=)
c.288C= (p.Gly96=)
c.314-1248C= (n.314-1248C=)
c.11C=
n.561C=
n.528C=
19g.11105317C>GCA505742210LDLRc.669C>G (p.Gly223=)
c.411C>G (p.Gly137=)
c.665C>G
c.314-2075C>G (n.314-2075C>G)
c.288C>G (p.Gly96=)
c.314-1248C>G (n.314-1248C>G)
c.11C>G
n.561C>G
n.528C>G
19g.11105317C>TCA505742211LDLRc.669C>T (p.Gly223=)
c.411C>T (p.Gly137=)
c.665C>T
c.314-2075C>T (n.314-2075C>T)
c.288C>T (p.Gly96=)
c.314-1248C>T (n.314-1248C>T)
c.11C>T
n.561C>T
n.528C>T
19g.11105318T>ACA404076377LDLRc.670T>A (p.Ser224Thr)
c.412T>A (p.Ser138Thr)
c.666T>A
c.314-2074T>A (n.314-2074T>A)
c.289T>A (p.Ser97Thr)
c.314-1247T>A (n.314-1247T>A)
c.12T>A
n.562T>A
n.529T>A
19g.11105318T>CCA404076378LDLRc.670T>C (p.Ser224Pro)
c.412T>C (p.Ser138Pro)
c.666T>C
c.314-2074T>C (n.314-2074T>C)
c.289T>C (p.Ser97Pro)
c.314-1247T>C (n.314-1247T>C)
c.12T>C
n.562T>C
n.529T>C
19g.11105318T>GCA404076379LDLRc.670T>G (p.Ser224Ala)
c.412T>G (p.Ser138Ala)
c.666T>G
c.314-2074T>G (n.314-2074T>G)
c.289T>G (p.Ser97Ala)
c.314-1247T>G (n.314-1247T>G)
c.12T>G
n.562T>G
n.529T>G
 gnomAD v4
19g.11105319C>ACA404076380LDLRc.671C>A (p.Ser224Ter)
c.413C>A (p.Ser138Ter)
c.667C>A
c.314-2073C>A (n.314-2073C>A)
c.290C>A (p.Ser97Ter)
c.314-1246C>A (n.314-1246C>A)
c.13C>A
n.563C>A
n.530C>A
 ClinVar dbSNP
19g.11105319C=CA2322767363LDLRc.671C= (p.Ser224=)
c.413C= (p.Ser138=)
c.667C=
c.314-2073C= (n.314-2073C=)
c.290C= (p.Ser97=)
c.314-1246C= (n.314-1246C=)
c.13C=
n.563C=
n.530C=
19g.11105319C>GCA043464LDLRc.671C>G (p.Ser224Ter)
c.413C>G (p.Ser138Ter)
c.667C>G
c.314-2073C>G (n.314-2073C>G)
c.290C>G (p.Ser97Ter)
c.314-1246C>G (n.314-1246C>G)
c.13C>G
n.563C>G
n.530C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105319C>TCA404076381LDLRc.671C>T (p.Ser224Leu)
c.413C>T (p.Ser138Leu)
c.667C>T
c.314-2073C>T (n.314-2073C>T)
c.290C>T (p.Ser97Leu)
c.314-1246C>T (n.314-1246C>T)
c.13C>T
n.563C>T
n.530C>T
 ClinVar gnomAD v4
19g.11105320_11105323delCA2582473459LDLRc.672_675del (p.Asp225ArgfsTer?)
c.414_417del (p.Asp139ArgfsTer?)
c.668_671del
c.314-2072_314-2069del (n.314-2072_314-2069del)
c.291_294del (p.Asp98ArgfsTer?)
c.314-1245_314-1242del (n.314-1245_314-1242del)
c.14_17del
n.564_567del
n.531_534del
 gnomAD v4
19g.11105320A>CCA505742212LDLRc.672A>C (p.Ser224=)
c.414A>C (p.Ser138=)
c.668A>C
c.314-2072A>C (n.314-2072A>C)
c.291A>C (p.Ser97=)
c.314-1245A>C (n.314-1245A>C)
c.14A>C
n.564A>C
n.531A>C
19g.11105320A>GCA505742213LDLRc.672A>G (p.Ser224=)
c.414A>G (p.Ser138=)
c.668A>G
c.314-2072A>G (n.314-2072A>G)
c.291A>G (p.Ser97=)
c.314-1245A>G (n.314-1245A>G)
c.14A>G
n.564A>G
n.531A>G
19g.11105320A>TCA505742214LDLRc.672A>T (p.Ser224=)
c.414A>T (p.Ser138=)
c.668A>T
c.314-2072A>T (n.314-2072A>T)
c.291A>T (p.Ser97=)
c.314-1245A>T (n.314-1245A>T)
c.14A>T
n.564A>T
n.531A>T
19g.11105321_11105322delCA2580096435LDLRc.673_674del (p.Asp225ArgfsTer?)
c.415_416del (p.Asp139ArgfsTer?)
c.669_670del
c.314-2071_314-2070del (n.314-2071_314-2070del)
c.292_293del (p.Asp98ArgfsTer?)
c.314-1244_314-1243del (n.314-1244_314-1243del)
c.15_16del
n.565_566del
n.532_533del
 ClinVar
19g.11105321G>ACA10584907LDLRc.673G>A (p.Asp225Asn)
c.415G>A (p.Asp139Asn)
c.669G>A
c.314-2071G>A (n.314-2071G>A)
c.292G>A (p.Asp98Asn)
c.314-1244G>A (n.314-1244G>A)
c.15G>A
n.565G>A
n.532G>A
 ClinVar dbSNP gnomAD v4
19g.11105321G>CCA10584908LDLRc.673G>C (p.Asp225His)
c.415G>C (p.Asp139His)
c.669G>C
c.314-2071G>C (n.314-2071G>C)
c.292G>C (p.Asp98His)
c.314-1244G>C (n.314-1244G>C)
c.15G>C
n.565G>C
n.532G>C
 ClinVar dbSNP COSMIC
19g.11105321G=CA2322767364LDLRc.673G= (p.Asp225=)
c.415G= (p.Asp139=)
c.669G=
c.314-2071G= (n.314-2071G=)
c.292G= (p.Asp98=)
c.314-1244G= (n.314-1244G=)
c.15G=
n.565G=
n.532G=
19g.11105321G>TCA404076382LDLRc.673G>T (p.Asp225Tyr)
c.415G>T (p.Asp139Tyr)
c.669G>T
c.314-2071G>T (n.314-2071G>T)
c.292G>T (p.Asp98Tyr)
c.314-1244G>T (n.314-1244G>T)
c.15G>T
n.565G>T
n.532G>T
19g.11105322A=CA2322767365LDLRc.674A= (p.Asp225=)
c.416A= (p.Asp139=)
c.670A=
c.314-2070A= (n.314-2070A=)
c.293A= (p.Asp98=)
c.314-1243A= (n.314-1243A=)
c.16A=
n.566A=
n.533A=
19g.11105322A>CCA404076383LDLRc.674A>C (p.Asp225Ala)
c.416A>C (p.Asp139Ala)
c.670A>C
c.314-2070A>C (n.314-2070A>C)
c.293A>C (p.Asp98Ala)
c.314-1243A>C (n.314-1243A>C)
c.16A>C
n.566A>C
n.533A>C
19g.11105322A>GCA10584909LDLRc.674A>G (p.Asp225Gly)
c.416A>G (p.Asp139Gly)
c.670A>G
c.314-2070A>G (n.314-2070A>G)
c.293A>G (p.Asp98Gly)
c.314-1243A>G (n.314-1243A>G)
c.16A>G
n.566A>G
n.533A>G
 ClinVar dbSNP
19g.11105322A>TCA10584910LDLRc.674A>T (p.Asp225Val)
c.416A>T (p.Asp139Val)
c.670A>T
c.314-2070A>T (n.314-2070A>T)
c.293A>T (p.Asp98Val)
c.314-1243A>T (n.314-1243A>T)
c.16A>T
n.566A>T
n.533A>T
 ClinVar dbSNP
19g.11105323C>ACA404076384LDLRc.675C>A (p.Asp225Glu)
c.417C>A (p.Asp139Glu)
c.671C>A
c.314-2069C>A (n.314-2069C>A)
c.294C>A (p.Asp98Glu)
c.314-1242C>A (n.314-1242C>A)
c.17C>A
n.567C>A
n.534C>A
 ClinVar dbSNP
19g.11105323C=CA2322767366LDLRc.675C= (p.Asp225=)
c.417C= (p.Asp139=)
c.671C=
c.314-2069C= (n.314-2069C=)
c.294C= (p.Asp98=)
c.314-1242C= (n.314-1242C=)
c.17C=
n.567C=
n.534C=
19g.11105323C>GCA10576282LDLRc.675C>G (p.Asp225Glu)
c.417C>G (p.Asp139Glu)
c.671C>G
c.314-2069C>G (n.314-2069C>G)
c.294C>G (p.Asp98Glu)
c.314-1242C>G (n.314-1242C>G)
c.17C>G
n.567C>G
n.534C>G
 ClinVar dbSNP gnomAD v4
19g.11105323C>TCA043478LDLRc.675C>T (p.Asp225=)
c.417C>T (p.Asp139=)
c.671C>T
c.314-2069C>T (n.314-2069C>T)
c.294C>T (p.Asp98=)
c.314-1242C>T (n.314-1242C>T)
c.17C>T
n.567C>T
n.534C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105324G>ACA10584911LDLRc.676G>A (p.Glu226Lys)
c.418G>A (p.Glu140Lys)
c.672G>A
c.314-2068G>A (n.314-2068G>A)
c.295G>A (p.Glu99Lys)
c.314-1241G>A (n.314-1241G>A)
c.18G>A
n.568G>A
n.535G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11105324G>CCA404076385LDLRc.676G>C (p.Glu226Gln)
c.418G>C (p.Glu140Gln)
c.672G>C
c.314-2068G>C (n.314-2068G>C)
c.295G>C (p.Glu99Gln)
c.314-1241G>C (n.314-1241G>C)
c.18G>C
n.568G>C
n.535G>C
19g.11105324G=CA2322767367LDLRc.676G= (p.Glu226=)
c.418G= (p.Glu140=)
c.672G=
c.314-2068G= (n.314-2068G=)
c.295G= (p.Glu99=)
c.314-1241G= (n.314-1241G=)
c.18G=
n.568G=
n.535G=
19g.11105324G>TCA043486LDLRc.676G>T (p.Glu226Ter)
c.418G>T (p.Glu140Ter)
c.672G>T
c.314-2068G>T (n.314-2068G>T)
c.295G>T (p.Glu99Ter)
c.314-1241G>T (n.314-1241G>T)
c.18G>T
n.568G>T
n.535G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105325A=CA2322767368LDLRc.677A= (p.Glu226=)
c.419A= (p.Glu140=)
c.673A=
c.314-2067A= (n.314-2067A=)
c.296A= (p.Glu99=)
c.314-1240A= (n.314-1240A=)
c.19A=
n.569A=
n.536A=
19g.11105325A>CCA404076386LDLRc.677A>C (p.Glu226Ala)
c.419A>C (p.Glu140Ala)
c.673A>C
c.314-2067A>C (n.314-2067A>C)
c.296A>C (p.Glu99Ala)
c.314-1240A>C (n.314-1240A>C)
c.19A>C
n.569A>C
n.536A>C
19g.11105325A>GCA10584912LDLRc.677A>G (p.Glu226Gly)
c.419A>G (p.Glu140Gly)
c.673A>G
c.314-2067A>G (n.314-2067A>G)
c.296A>G (p.Glu99Gly)
c.314-1240A>G (n.314-1240A>G)
c.19A>G
n.569A>G
n.536A>G
 ClinVar dbSNP gnomAD v4
19g.11105325A>TCA404076387LDLRc.677A>T (p.Glu226Val)
c.419A>T (p.Glu140Val)
c.673A>T
c.314-2067A>T (n.314-2067A>T)
c.296A>T (p.Glu99Val)
c.314-1240A>T (n.314-1240A>T)
c.19A>T
n.569A>T
n.536A>T
19g.11105326G>ACA505742216LDLRc.678G>A (p.Glu226=)
c.420G>A (p.Glu140=)
c.674G>A
c.314-2066G>A (n.314-2066G>A)
c.297G>A (p.Glu99=)
c.314-1239G>A (n.314-1239G>A)
c.20G>A
n.570G>A
n.537G>A
 gnomAD v4
19g.11105326G>CCA10584913LDLRc.678G>C (p.Glu226Asp)
c.420G>C (p.Glu140Asp)
c.674G>C
c.314-2066G>C (n.314-2066G>C)
c.297G>C (p.Glu99Asp)
c.314-1239G>C (n.314-1239G>C)
c.20G>C
n.570G>C
n.537G>C
 ClinVar dbSNP
19g.11105326G=CA2322767369LDLRc.678G= (p.Glu226=)
c.420G= (p.Glu140=)
c.674G=
c.314-2066G= (n.314-2066G=)
c.297G= (p.Glu99=)
c.314-1239G= (n.314-1239G=)
c.20G=
n.570G=
n.537G=
19g.11105326G>TCA10584914LDLRc.678G>T (p.Glu226Asp)
c.420G>T (p.Glu140Asp)
c.674G>T
c.314-2066G>T (n.314-2066G>T)
c.297G>T (p.Glu99Asp)
c.314-1239G>T (n.314-1239G>T)
c.20G>T
n.570G>T
n.537G>T
 ClinVar dbSNP
19g.11105326_11105333delinsGGCCTCCTCA2322767370LDLRc.678_685delinsGGCCTCCT (p.Glu226=)
c.420_427delinsGGCCTCCT (p.Glu140=)
c.674_681delinsGGCCTCCT
c.314-2066_314-2059delinsGGCCTCCT (n.314-2066_314-2059delinsGGCCTCCT)
c.297_304delinsGGCCTCCT (p.Glu99=)
c.314-1239_314-1232delinsGGCCTCCT (n.314-1239_314-1232delinsGGCCTCCT)
c.20_27delinsGGCCTCCT
n.570_577delinsGGCCTCCT
n.537_544delinsGGCCTCCT
19g.11105327G>ACA404076391LDLRc.679G>A (p.Ala227Thr)
c.421G>A (p.Ala141Thr)
c.675G>A
c.314-2065G>A (n.314-2065G>A)
c.298G>A (p.Ala100Thr)
c.314-1238G>A (n.314-1238G>A)
c.21G>A
n.571G>A
n.538G>A
 dbSNP
19g.11105327G>CCA404076393LDLRc.679G>C (p.Ala227Pro)
c.421G>C (p.Ala141Pro)
c.675G>C
c.314-2065G>C (n.314-2065G>C)
c.298G>C (p.Ala100Pro)
c.314-1238G>C (n.314-1238G>C)
c.21G>C
n.571G>C
n.538G>C
19g.11105327G=CA2322767371LDLRc.679G= (p.Ala227=)
c.421G= (p.Ala141=)
c.675G=
c.314-2065G= (n.314-2065G=)
c.298G= (p.Ala100=)
c.314-1238G= (n.314-1238G=)
c.21G=
n.571G=
n.538G=
19g.11105327G>TCA404076395LDLRc.679G>T (p.Ala227Ser)
c.421G>T (p.Ala141Ser)
c.675G>T
c.314-2065G>T (n.314-2065G>T)
c.298G>T (p.Ala100Ser)
c.314-1238G>T (n.314-1238G>T)
c.21G>T
n.571G>T
n.538G>T
19g.11105330_11105336delCA10584915LDLRc.682_688del (p.Ser228ArgfsTer?)
c.424_430del (p.Ser142ArgfsTer?)
c.678_684del
c.314-2062_314-2056del (n.314-2062_314-2056del)
c.301_307del (p.Ser101ArgfsTer?)
c.314-1235_314-1229del (n.314-1235_314-1229del)
c.24_30del
n.574_580del
n.541_547del
 ClinVar dbSNP
19g.11105328C>ACA404076398LDLRc.680C>A (p.Ala227Asp)
c.422C>A (p.Ala141Asp)
c.676C>A
c.314-2064C>A (n.314-2064C>A)
c.299C>A (p.Ala100Asp)
c.314-1237C>A (n.314-1237C>A)
c.22C>A
n.572C>A
n.539C>A
 gnomAD v4
19g.11105328C=CA2322767372LDLRc.680C= (p.Ala227=)
c.422C= (p.Ala141=)
c.676C=
c.314-2064C= (n.314-2064C=)
c.299C= (p.Ala100=)
c.314-1237C= (n.314-1237C=)
c.22C=
n.572C=
n.539C=
19g.11105328C>GCA404076400LDLRc.680C>G (p.Ala227Gly)
c.422C>G (p.Ala141Gly)
c.676C>G
c.314-2064C>G (n.314-2064C>G)
c.299C>G (p.Ala100Gly)
c.314-1237C>G (n.314-1237C>G)
c.22C>G
n.572C>G
n.539C>G
19g.11105328C>TCA404076402LDLRc.680C>T (p.Ala227Val)
c.422C>T (p.Ala141Val)
c.676C>T
c.314-2064C>T (n.314-2064C>T)
c.299C>T (p.Ala100Val)
c.314-1237C>T (n.314-1237C>T)
c.22C>T
n.572C>T
n.539C>T
 dbSNP gnomAD v3 gnomAD v4
19g.11105329C>ACA505743048LDLRc.681C>A (p.Ala227=)
c.423C>A (p.Ala141=)
c.677C>A
c.314-2063C>A (n.314-2063C>A)
c.300C>A (p.Ala100=)
c.314-1236C>A (n.314-1236C>A)
c.23C>A
n.573C>A
n.540C>A
19g.11105329C>GCA505743049LDLRc.681C>G (p.Ala227=)
c.423C>G (p.Ala141=)
c.677C>G
c.314-2063C>G (n.314-2063C>G)
c.300C>G (p.Ala100=)
c.314-1236C>G (n.314-1236C>G)
c.23C>G
n.573C>G
n.540C>G
19g.11105329C>TCA505743052LDLRc.681C>T (p.Ala227=)
c.423C>T (p.Ala141=)
c.677C>T
c.314-2063C>T (n.314-2063C>T)
c.300C>T (p.Ala100=)
c.314-1236C>T (n.314-1236C>T)
c.23C>T
n.573C>T
n.540C>T
 gnomAD v4
19g.11105330T>ACA043499LDLRc.682T>A (p.Ser228Thr)
c.424T>A (p.Ser142Thr)
c.678T>A
c.314-2062T>A (n.314-2062T>A)
c.301T>A (p.Ser101Thr)
c.314-1235T>A (n.314-1235T>A)
c.24T>A
n.574T>A
n.541T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105330T>CCA404076405LDLRc.682T>C (p.Ser228Pro)
c.424T>C (p.Ser142Pro)
c.678T>C
c.314-2062T>C (n.314-2062T>C)
c.301T>C (p.Ser101Pro)
c.314-1235T>C (n.314-1235T>C)
c.24T>C
n.574T>C
n.541T>C
19g.11105330T>GCA043516LDLRc.682T>G (p.Ser228Ala)
c.424T>G (p.Ser142Ala)
c.678T>G
c.314-2062T>G (n.314-2062T>G)
c.301T>G (p.Ser101Ala)
c.314-1235T>G (n.314-1235T>G)
c.24T>G
n.574T>G
n.541T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105330T=CA2322767373LDLRc.682T= (p.Ser228=)
c.424T= (p.Ser142=)
c.678T=
c.314-2062T= (n.314-2062T=)
c.301T= (p.Ser101=)
c.314-1235T= (n.314-1235T=)
c.24T=
n.574T=
n.541T=
19g.11105331C>ACA404076408LDLRc.683C>A (p.Ser228Tyr)
c.425C>A (p.Ser142Tyr)
c.679C>A
c.314-2061C>A (n.314-2061C>A)
c.302C>A (p.Ser101Tyr)
c.314-1234C>A (n.314-1234C>A)
c.25C>A
n.575C>A
n.542C>A
19g.11105331C>GCA404076410LDLRc.683C>G (p.Ser228Cys)
c.425C>G (p.Ser142Cys)
c.679C>G
c.314-2061C>G (n.314-2061C>G)
c.302C>G (p.Ser101Cys)
c.314-1234C>G (n.314-1234C>G)
c.25C>G
n.575C>G
n.542C>G
19g.11105331C>TCA404076411LDLRc.683C>T (p.Ser228Phe)
c.425C>T (p.Ser142Phe)
c.679C>T
c.314-2061C>T (n.314-2061C>T)
c.302C>T (p.Ser101Phe)
c.314-1234C>T (n.314-1234C>T)
c.25C>T
n.575C>T
n.542C>T
 ClinVar gnomAD v4 COSMIC
19g.11105332C>ACA505743057LDLRc.684C>A (p.Ser228=)
c.426C>A (p.Ser142=)
c.680C>A
c.314-2060C>A (n.314-2060C>A)
c.303C>A (p.Ser101=)
c.314-1233C>A (n.314-1233C>A)
c.26C>A
n.576C>A
n.543C>A
 ClinVar dbSNP
19g.11105332C=CA2322767374LDLRc.684C= (p.Ser228=)
c.426C= (p.Ser142=)
c.680C=
c.314-2060C= (n.314-2060C=)
c.303C= (p.Ser101=)
c.314-1233C= (n.314-1233C=)
c.26C=
n.576C=
n.543C=
19g.11105332C>GCA505743058LDLRc.684C>G (p.Ser228=)
c.426C>G (p.Ser142=)
c.680C>G
c.314-2060C>G (n.314-2060C>G)
c.303C>G (p.Ser101=)
c.314-1233C>G (n.314-1233C>G)
c.26C>G
n.576C>G
n.543C>G
19g.11105332C>TCA505743059LDLRc.684C>T (p.Ser228=)
c.426C>T (p.Ser142=)
c.680C>T
c.314-2060C>T (n.314-2060C>T)
c.303C>T (p.Ser101=)
c.314-1233C>T (n.314-1233C>T)
c.26C>T
n.576C>T
n.543C>T
 gnomAD v4
19g.11105333T>ACA404076414LDLRc.685T>A (p.Cys229Ser)
c.427T>A (p.Cys143Ser)
c.681T>A
c.314-2059T>A (n.314-2059T>A)
c.304T>A (p.Cys102Ser)
c.314-1232T>A (n.314-1232T>A)
c.27T>A
n.577T>A
n.544T>A
 ClinVar dbSNP
19g.11105333T>CCA10584916LDLRc.685T>C (p.Cys229Arg)
c.427T>C (p.Cys143Arg)
c.681T>C
c.314-2059T>C (n.314-2059T>C)
c.304T>C (p.Cys102Arg)
c.314-1232T>C (n.314-1232T>C)
c.27T>C
n.577T>C
n.544T>C
 ClinVar dbSNP gnomAD v4
19g.11105333T>GCA10576283LDLRc.685T>G (p.Cys229Gly)
c.427T>G (p.Cys143Gly)
c.681T>G
c.314-2059T>G (n.314-2059T>G)
c.304T>G (p.Cys102Gly)
c.314-1232T>G (n.314-1232T>G)
c.27T>G
n.577T>G
n.544T>G
 ClinVar dbSNP gnomAD v4
19g.11105333T=CA2322767375LDLRc.685T= (p.Cys229=)
c.427T= (p.Cys143=)
c.681T=
c.314-2059T= (n.314-2059T=)
c.304T= (p.Cys102=)
c.314-1232T= (n.314-1232T=)
c.27T=
n.577T=
n.544T=
19g.11105334G>ACA10584917LDLRc.686G>A (p.Cys229Tyr)
c.428G>A (p.Cys143Tyr)
c.682G>A
c.314-2058G>A (n.314-2058G>A)
c.305G>A (p.Cys102Tyr)
c.314-1231G>A (n.314-1231G>A)
c.28G>A
n.578G>A
n.545G>A
 ClinVar dbSNP gnomAD v4
19g.11105334G>CCA10654844LDLRc.686G>C (p.Cys229Ser)
c.428G>C (p.Cys143Ser)
c.682G>C
c.314-2058G>C (n.314-2058G>C)
c.305G>C (p.Cys102Ser)
c.314-1231G>C (n.314-1231G>C)
c.28G>C
n.578G>C
n.545G>C
 ClinVar dbSNP
19g.11105334G=CA2322767376LDLRc.686G= (p.Cys229=)
c.428G= (p.Cys143=)
c.682G=
c.314-2058G= (n.314-2058G=)
c.305G= (p.Cys102=)
c.314-1231G= (n.314-1231G=)
c.28G=
n.578G=
n.545G=
19g.11105334G>TCA404076416LDLRc.686G>T (p.Cys229Phe)
c.428G>T (p.Cys143Phe)
c.682G>T
c.314-2058G>T (n.314-2058G>T)
c.305G>T (p.Cys102Phe)
c.314-1231G>T (n.314-1231G>T)
c.28G>T
n.578G>T
n.545G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105335C>ACA043532LDLRc.687C>A (p.Cys229Ter)
c.429C>A (p.Cys143Ter)
c.683C>A
c.314-2057C>A (n.314-2057C>A)
c.306C>A (p.Cys102Ter)
c.314-1230C>A (n.314-1230C>A)
c.29C>A
n.579C>A
n.546C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105335C=CA2322767377LDLRc.687C= (p.Cys229=)
c.429C= (p.Cys143=)
c.683C=
c.314-2057C= (n.314-2057C=)
c.306C= (p.Cys102=)
c.314-1230C= (n.314-1230C=)
c.29C=
n.579C=
n.546C=
19g.11105335C>GCA404076419LDLRc.687C>G (p.Cys229Trp)
c.429C>G (p.Cys143Trp)
c.683C>G
c.314-2057C>G (n.314-2057C>G)
c.306C>G (p.Cys102Trp)
c.314-1230C>G (n.314-1230C>G)
c.29C>G
n.579C>G
n.546C>G
19g.11105335C>TCA505743063LDLRc.687C>T (p.Cys229=)
c.429C>T (p.Cys143=)
c.683C>T
c.314-2057C>T (n.314-2057C>T)
c.306C>T (p.Cys102=)
c.314-1230C>T (n.314-1230C>T)
c.29C>T
n.579C>T
n.546C>T
 gnomAD v4
19g.11105337dupCA2582473460LDLRc.689dup (p.Val231GlyfsTer?)
c.431dup (p.Val145GlyfsTer?)
c.685dup
c.314-2055dup (n.314-2055dup)
c.308dup (p.Val104GlyfsTer?)
c.314-1228dup (n.314-1228dup)
c.31dup
n.581dup
n.548dup
 gnomAD v4
19g.11105336C>ACA404076422LDLRc.688C>A (p.Pro230Thr)
c.430C>A (p.Pro144Thr)
c.684C>A
c.314-2056C>A (n.314-2056C>A)
c.307C>A (p.Pro103Thr)
c.314-1229C>A (n.314-1229C>A)
c.30C>A
n.580C>A
n.547C>A
19g.11105336C=CA2322767378LDLRc.688C= (p.Pro230=)
c.430C= (p.Pro144=)
c.684C=
c.314-2056C= (n.314-2056C=)
c.307C= (p.Pro103=)
c.314-1229C= (n.314-1229C=)
c.30C=
n.580C=
n.547C=
19g.11105336C>GCA404076425LDLRc.688C>G (p.Pro230Ala)
c.430C>G (p.Pro144Ala)
c.684C>G
c.314-2056C>G (n.314-2056C>G)
c.307C>G (p.Pro103Ala)
c.314-1229C>G (n.314-1229C>G)
c.30C>G
n.580C>G
n.547C>G
19g.11105336C>TCA404076427LDLRc.688C>T (p.Pro230Ser)
c.430C>T (p.Pro144Ser)
c.684C>T
c.314-2056C>T (n.314-2056C>T)
c.307C>T (p.Pro103Ser)
c.314-1229C>T (n.314-1229C>T)
c.30C>T
n.580C>T
n.547C>T
19g.11105337C>ACA404076429LDLRc.689C>A (p.Pro230Gln)
c.431C>A (p.Pro144Gln)
c.685C>A
c.314-2055C>A (n.314-2055C>A)
c.308C>A (p.Pro103Gln)
c.314-1228C>A (n.314-1228C>A)
c.31C>A
n.581C>A
n.548C>A
19g.11105337C=CA2322767379LDLRc.689C= (p.Pro230=)
c.431C= (p.Pro144=)
c.685C=
c.314-2055C= (n.314-2055C=)
c.308C= (p.Pro103=)
c.314-1228C= (n.314-1228C=)
c.31C=
n.581C=
n.548C=
19g.11105337C>GCA404076432LDLRc.689C>G (p.Pro230Arg)
c.431C>G (p.Pro144Arg)
c.685C>G
c.314-2055C>G (n.314-2055C>G)
c.308C>G (p.Pro103Arg)
c.314-1228C>G (n.314-1228C>G)
c.31C>G
n.581C>G
n.548C>G
 ClinVar dbSNP
19g.11105337C>TCA305296798LDLRc.689C>T (p.Pro230Leu)
c.431C>T (p.Pro144Leu)
c.685C>T
c.314-2055C>T (n.314-2055C>T)
c.308C>T (p.Pro103Leu)
c.314-1228C>T (n.314-1228C>T)
c.31C>T
n.581C>T
n.548C>T
 ClinVar dbSNP gnomAD v4
19g.11105337_11105340dupCA10584918LDLRc.689_692dup (p.Leu232GlyfsTer?)
c.431_434dup (p.Leu146GlyfsTer?)
c.685_688dup
c.314-2055_314-2052dup (n.314-2055_314-2052dup)
c.308_311dup (p.Leu105GlyfsTer?)
c.314-1228_314-1225dup (n.314-1228_314-1225dup)
c.31_34dup
n.581_584dup
n.548_551dup
 ClinVar dbSNP
19g.11105338G>ACA043545LDLRc.690G>A (p.Pro230=)
c.432G>A (p.Pro144=)
c.686G>A
c.314-2054G>A (n.314-2054G>A)
c.309G>A (p.Pro103=)
c.314-1227G>A (n.314-1227G>A)
c.32G>A
n.582G>A
n.549G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105338G>CCA505743067LDLRc.690G>C (p.Pro230=)
c.432G>C (p.Pro144=)
c.686G>C
c.314-2054G>C (n.314-2054G>C)
c.309G>C (p.Pro103=)
c.314-1227G>C (n.314-1227G>C)
c.32G>C
n.582G>C
n.549G>C
 ClinVar dbSNP gnomAD v4
19g.11105338G=CA2322767380LDLRc.690G= (p.Pro230=)
c.432G= (p.Pro144=)
c.686G=
c.314-2054G= (n.314-2054G=)
c.309G= (p.Pro103=)
c.314-1227G= (n.314-1227G=)
c.32G=
n.582G=
n.549G=
19g.11105338G>TCA505743064LDLRc.690G>T (p.Pro230=)
c.432G>T (p.Pro144=)
c.686G>T
c.314-2054G>T (n.314-2054G>T)
c.309G>T (p.Pro103=)
c.314-1227G>T (n.314-1227G>T)
c.32G>T
n.582G>T
n.549G>T
 gnomAD v4
19g.11105339dupCA1139666291LDLRc.691dup (p.Val231GlyfsTer?)
c.433dup (p.Val145GlyfsTer?)
c.687dup
c.314-2053dup (n.314-2053dup)
c.310dup (p.Val104GlyfsTer?)
c.314-1226dup (n.314-1226dup)
c.33dup
n.583dup
n.550dup
 ClinVar dbSNP
19g.11105338_11105339insACA2497030116LDLRc.690_691insA (p.Val231SerfsTer?)
c.432_433insA (p.Val145SerfsTer?)
c.686_687insA
c.314-2054_314-2053insA (n.314-2054_314-2053insA)
c.309_310insA (p.Val104SerfsTer?)
c.314-1227_314-1226insA (n.314-1227_314-1226insA)
c.32_33insA
n.582_583insA
n.549_550insA
19g.11105339G>ACA404076435LDLRc.691G>A (p.Val231Met)
c.433G>A (p.Val145Met)
c.687G>A
c.314-2053G>A (n.314-2053G>A)
c.310G>A (p.Val104Met)
c.314-1226G>A (n.314-1226G>A)
c.33G>A
n.583G>A
n.550G>A
19g.11105339G>CCA404076437LDLRc.691G>C (p.Val231Leu)
c.433G>C (p.Val145Leu)
c.687G>C
c.314-2053G>C (n.314-2053G>C)
c.310G>C (p.Val104Leu)
c.314-1226G>C (n.314-1226G>C)
c.33G>C
n.583G>C
n.550G>C
19g.11105339G>TCA404076439LDLRc.691G>T (p.Val231Leu)
c.433G>T (p.Val145Leu)
c.687G>T
c.314-2053G>T (n.314-2053G>T)
c.310G>T (p.Val104Leu)
c.314-1226G>T (n.314-1226G>T)
c.33G>T
n.583G>T
n.550G>T
19g.11105340T>ACA404076441LDLRc.692T>A (p.Val231Glu)
c.434T>A (p.Val145Glu)
c.688T>A
c.314-2052T>A (n.314-2052T>A)
c.311T>A (p.Val104Glu)
c.314-1225T>A (n.314-1225T>A)
c.34T>A
n.584T>A
n.551T>A
19g.11105340T>CCA043591LDLRc.692T>C (p.Val231Ala)
c.434T>C (p.Val145Ala)
c.688T>C
c.314-2052T>C (n.314-2052T>C)
c.311T>C (p.Val104Ala)
c.314-1225T>C (n.314-1225T>C)
c.34T>C
n.584T>C
n.551T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11105340T>GCA404076444LDLRc.692T>G (p.Val231Gly)
c.434T>G (p.Val145Gly)
c.688T>G
c.314-2052T>G (n.314-2052T>G)
c.311T>G (p.Val104Gly)
c.314-1225T>G (n.314-1225T>G)
c.34T>G
n.584T>G
n.551T>G
19g.11105340T=CA2322767381LDLRc.692T= (p.Val231=)
c.434T= (p.Val145=)
c.688T=
c.314-2052T= (n.314-2052T=)
c.311T= (p.Val104=)
c.314-1225T= (n.314-1225T=)
c.34T=
n.584T=
n.551T=
19g.11105341_11105363delCA2582473461LDLRc.693_715del (p.Leu232ProfsTer26)
c.435_457del (p.Leu146ProfsTer26)
c.689_711del
c.314-2051_314-2029del (n.314-2051_314-2029del)
c.312_334del (p.Leu105ProfsTer26)
c.314-1224_314-1202del (n.314-1224_314-1202del)
c.35_57del
n.585_607del
n.552_574del
 gnomAD v4
19g.11105341G>ACA505743071LDLRc.693G>A (p.Val231=)
c.435G>A (p.Val145=)
c.689G>A
c.314-2051G>A (n.314-2051G>A)
c.312G>A (p.Val104=)
c.314-1224G>A (n.314-1224G>A)
c.35G>A
n.585G>A
n.552G>A
19g.11105341G>CCA505743072LDLRc.693G>C (p.Val231=)
c.435G>C (p.Val145=)
c.689G>C
c.314-2051G>C (n.314-2051G>C)
c.312G>C (p.Val104=)
c.314-1224G>C (n.314-1224G>C)
c.35G>C
n.585G>C
n.552G>C
 gnomAD v4
19g.11105341G>TCA505743073LDLRc.693G>T (p.Val231=)
c.435G>T (p.Val145=)
c.689G>T
c.314-2051G>T (n.314-2051G>T)
c.312G>T (p.Val104=)
c.314-1224G>T (n.314-1224G>T)
c.35G>T
n.585G>T
n.552G>T
19g.11105342C>ACA404076446LDLRc.694C>A (p.Leu232Ile)
c.436C>A (p.Leu146Ile)
c.690C>A
c.314-2050C>A (n.314-2050C>A)
c.313C>A (p.Leu105Ile)
c.314-1223C>A (n.314-1223C>A)
c.36C>A
n.586C>A
n.553C>A
19g.11105342C=CA2322767382LDLRc.694C= (p.Leu232=)
c.436C= (p.Leu146=)
c.690C=
c.314-2050C= (n.314-2050C=)
c.313C= (p.Leu105=)
c.314-1223C= (n.314-1223C=)
c.36C=
n.586C=
n.553C=
19g.11105342C>GCA404076450LDLRc.694C>G (p.Leu232Val)
c.436C>G (p.Leu146Val)
c.690C>G
c.314-2050C>G (n.314-2050C>G)
c.313C>G (p.Leu105Val)
c.314-1223C>G (n.314-1223C>G)
c.36C>G
n.586C>G
n.553C>G
19g.11105342C>TCA404076448LDLRc.694C>T (p.Leu232Phe)
c.436C>T (p.Leu146Phe)
c.690C>T
c.314-2050C>T (n.314-2050C>T)
c.313C>T (p.Leu105Phe)
c.314-1223C>T (n.314-1223C>T)
c.36C>T
n.586C>T
n.553C>T
 dbSNP gnomAD v2 gnomAD v4
19g.11105343T>ACA404076452LDLRc.695T>A (p.Leu232His)
c.437T>A (p.Leu146His)
c.691T>A
c.314-2049T>A (n.314-2049T>A)
c.314T>A (p.Leu105His)
c.314-1222T>A (n.314-1222T>A)
c.37T>A
n.587T>A
n.554T>A
19g.11105343T>CCA404076453LDLRc.695T>C (p.Leu232Pro)
c.437T>C (p.Leu146Pro)
c.691T>C
c.314-2049T>C (n.314-2049T>C)
c.314T>C (p.Leu105Pro)
c.314-1222T>C (n.314-1222T>C)
c.37T>C
n.587T>C
n.554T>C
 gnomAD v4
19g.11105343T>GCA404076455LDLRc.695T>G (p.Leu232Arg)
c.437T>G (p.Leu146Arg)
c.691T>G
c.314-2049T>G (n.314-2049T>G)
c.314T>G (p.Leu105Arg)
c.314-1222T>G (n.314-1222T>G)
c.37T>G
n.587T>G
n.554T>G
19g.11105344C>ACA043600LDLRc.696C>A (p.Leu232=)
c.438C>A (p.Leu146=)
c.692C>A
c.314-2048C>A (n.314-2048C>A)
c.315C>A (p.Leu105=)
c.314-1221C>A (n.314-1221C>A)
c.38C>A
n.588C>A
n.555C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105344C=CA2322767383LDLRc.696C= (p.Leu232=)
c.438C= (p.Leu146=)
c.692C=
c.314-2048C= (n.314-2048C=)
c.315C= (p.Leu105=)
c.314-1221C= (n.314-1221C=)
c.38C=
n.588C=
n.555C=
19g.11105344C>GCA505743076LDLRc.696C>G (p.Leu232=)
c.438C>G (p.Leu146=)
c.692C>G
c.314-2048C>G (n.314-2048C>G)
c.315C>G (p.Leu105=)
c.314-1221C>G (n.314-1221C>G)
c.38C>G
n.588C>G
n.555C>G
19g.11105344C>TCA505743078LDLRc.696C>T (p.Leu232=)
c.438C>T (p.Leu146=)
c.692C>T
c.314-2048C>T (n.314-2048C>T)
c.315C>T (p.Leu105=)
c.314-1221C>T (n.314-1221C>T)
c.38C>T
n.588C>T
n.555C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105345A=CA2322767384LDLRc.697A= (p.Thr233=)
c.439A= (p.Thr147=)
c.693A=
c.314-2047A= (n.314-2047A=)
c.316A= (p.Thr106=)
c.314-1220A= (n.314-1220A=)
c.39A=
n.589A=
n.556A=
19g.11105345A>CCA404076457LDLRc.697A>C (p.Thr233Pro)
c.439A>C (p.Thr147Pro)
c.693A>C
c.314-2047A>C (n.314-2047A>C)
c.316A>C (p.Thr106Pro)
c.314-1220A>C (n.314-1220A>C)
c.39A>C
n.589A>C
n.556A>C
 dbSNP
19g.11105345A>GCA404076458LDLRc.697A>G (p.Thr233Ala)
c.439A>G (p.Thr147Ala)
c.693A>G
c.314-2047A>G (n.314-2047A>G)
c.316A>G (p.Thr106Ala)
c.314-1220A>G (n.314-1220A>G)
c.39A>G
n.589A>G
n.556A>G
19g.11105345A>TCA404076459LDLRc.697A>T (p.Thr233Ser)
c.439A>T (p.Thr147Ser)
c.693A>T
c.314-2047A>T (n.314-2047A>T)
c.316A>T (p.Thr106Ser)
c.314-1220A>T (n.314-1220A>T)
c.39A>T
n.589A>T
n.556A>T
19g.11105345_11105357delCA2695223198LDLRc.697_709del (p.Thr233ProfsTer?)
c.439_451del (p.Thr147ProfsTer?)
c.693_705del
c.314-2047_314-2035del (n.314-2047_314-2035del)
c.316_328del (p.Thr106ProfsTer?)
c.314-1220_314-1208del (n.314-1220_314-1208del)
c.39_51del
n.589_601del
n.556_568del
19g.11105346C>ACA404076462LDLRc.698C>A (p.Thr233Asn)
c.440C>A (p.Thr147Asn)
c.694C>A
c.314-2046C>A (n.314-2046C>A)
c.317C>A (p.Thr106Asn)
c.314-1219C>A (n.314-1219C>A)
c.40C>A
n.590C>A
n.557C>A
19g.11105346C=CA2322767385LDLRc.698C= (p.Thr233=)
c.440C= (p.Thr147=)
c.694C=
c.314-2046C= (n.314-2046C=)
c.317C= (p.Thr106=)
c.314-1219C= (n.314-1219C=)
c.40C=
n.590C=
n.557C=
19g.11105346C>GCA404076463LDLRc.698C>G (p.Thr233Ser)
c.440C>G (p.Thr147Ser)
c.694C>G
c.314-2046C>G (n.314-2046C>G)
c.317C>G (p.Thr106Ser)
c.314-1219C>G (n.314-1219C>G)
c.40C>G
n.590C>G
n.557C>G
 dbSNP
19g.11105346C>TCA10584919LDLRc.698C>T (p.Thr233Ile)
c.440C>T (p.Thr147Ile)
c.694C>T
c.314-2046C>T (n.314-2046C>T)
c.317C>T (p.Thr106Ile)
c.314-1219C>T (n.314-1219C>T)
c.40C>T
n.590C>T
n.557C>T
 ClinVar dbSNP
19g.11105346_11105352delCA2582473462LDLRc.698_704del (p.Thr233IlefsTer?)
c.440_446del (p.Thr147IlefsTer?)
c.694_700del
c.314-2046_314-2040del (n.314-2046_314-2040del)
c.317_323del (p.Thr106IlefsTer?)
c.314-1219_314-1213del (n.314-1219_314-1213del)
c.40_46del
n.590_596del
n.557_563del
 gnomAD v4
19g.11105346_11105356dupCA658653700LDLRc.698_708dup (p.Ala237ProfsTer?)
c.440_450dup (p.Ala151ProfsTer?)
c.694_704dup
c.314-2046_314-2036dup (n.314-2046_314-2036dup)
c.317_327dup (p.Ala110ProfsTer?)
c.314-1219_314-1209dup (n.314-1219_314-1209dup)
c.40_50dup
n.590_600dup
n.557_567dup
 ClinVar dbSNP
19g.11105346_11105409delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACA2322767386LDLRc.698_761delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr233=)
c.440_503delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr147=)
c.694_757delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA
c.314-2046_314-1983delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (n.314-2046_314-1983delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA)
c.317_380delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr106=)
c.314-1219_314-1156delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (n.314-1219_314-1156delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA)
c.40_103delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA
n.590_653delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA
n.557_620delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA
19g.11105347C>ACA505743080LDLRc.699C>A (p.Thr233=)
c.441C>A (p.Thr147=)
c.695C>A
c.314-2045C>A (n.314-2045C>A)
c.318C>A (p.Thr106=)
c.314-1218C>A (n.314-1218C>A)
c.41C>A
n.591C>A
n.558C>A
19g.11105347C>GCA505743081LDLRc.699C>G (p.Thr233=)
c.441C>G (p.Thr147=)
c.695C>G
c.314-2045C>G (n.314-2045C>G)
c.318C>G (p.Thr106=)
c.314-1218C>G (n.314-1218C>G)
c.41C>G
n.591C>G
n.558C>G
19g.11105347C>TCA505743082LDLRc.699C>T (p.Thr233=)
c.441C>T (p.Thr147=)
c.695C>T
c.314-2045C>T (n.314-2045C>T)
c.318C>T (p.Thr106=)
c.314-1218C>T (n.314-1218C>T)
c.41C>T
n.591C>T
n.558C>T
 ClinVar dbSNP gnomAD v4
19g.11105347_11105410delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACCA2322767387LDLRc.699_762delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr233=)
c.441_504delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr147=)
c.695_758delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC
c.314-2045_314-1982delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (n.314-2045_314-1982delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC)
c.318_381delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr106=)
c.314-1218_314-1155delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (n.314-1218_314-1155delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC)
c.41_104delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC
n.591_654delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC
n.558_621delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC
19g.11105348_11105410delCA16602300LDLRc.700_762del (p.Cys234_Asp254del)
c.442_504del (p.Cys148_Asp168del)
c.696_758del
c.314-2044_314-1982del (n.314-2044_314-1982del)
c.319_381del (p.Cys107_Asp127del)
c.314-1217_314-1155del (n.314-1217_314-1155del)
c.42_104del
n.592_654del
n.559_621del
 ClinVar dbSNP
19g.11105348T>ACA404076472LDLRc.700T>A (p.Cys234Ser)
c.442T>A (p.Cys148Ser)
c.696T>A
c.314-2044T>A (n.314-2044T>A)
c.319T>A (p.Cys107Ser)
c.314-1217T>A (n.314-1217T>A)
c.42T>A
n.592T>A
n.559T>A
19g.11105348T>CCA10584920LDLRc.700T>C (p.Cys234Arg)
c.442T>C (p.Cys148Arg)
c.696T>C
c.314-2044T>C (n.314-2044T>C)
c.319T>C (p.Cys107Arg)
c.314-1217T>C (n.314-1217T>C)
c.42T>C
n.592T>C
n.559T>C
 ClinVar dbSNP
19g.11105348T>GCA404076467LDLRc.700T>G (p.Cys234Gly)
c.442T>G (p.Cys148Gly)
c.696T>G
c.314-2044T>G (n.314-2044T>G)
c.319T>G (p.Cys107Gly)
c.314-1217T>G (n.314-1217T>G)
c.42T>G
n.592T>G
n.559T>G
19g.11105348T=CA2322767388LDLRc.700T= (p.Cys234=)
c.442T= (p.Cys148=)
c.696T=
c.314-2044T= (n.314-2044T=)
c.319T= (p.Cys107=)
c.314-1217T= (n.314-1217T=)
c.42T=
n.592T=
n.559T=
19g.11105348_11105351dupCA2573050570LDLRc.700_703dup (p.Gly235ValfsTer?)
c.442_445dup (p.Gly149ValfsTer?)
c.696_699dup
c.314-2044_314-2041dup (n.314-2044_314-2041dup)
c.319_322dup (p.Gly108ValfsTer?)
c.314-1217_314-1214dup (n.314-1217_314-1214dup)
c.42_45dup
n.592_595dup
n.559_562dup
19g.11105348_11105368delinsACA2573050571LDLRc.700_720delinsA (p.Cys234MetfsTer25)
c.442_462delinsA (p.Cys148MetfsTer25)
c.696_716delinsA
c.314-2044_314-2024delinsA (n.314-2044_314-2024delinsA)
c.319_339delinsA (p.Cys107MetfsTer25)
c.314-1217_314-1197delinsA (n.314-1217_314-1197delinsA)
c.42_62delinsA
n.592_612delinsA
n.559_579delinsA
19g.11105348_11105410delinsACA645373223LDLRc.700_762delinsA (p.Cys234LysfsTer11)
c.442_504delinsA (p.Cys148LysfsTer11)
c.696_758delinsA
c.314-2044_314-1982delinsA (n.314-2044_314-1982delinsA)
c.319_381delinsA (p.Cys107LysfsTer11)
c.314-1217_314-1155delinsA (n.314-1217_314-1155delinsA)
c.42_104delinsA
n.592_654delinsA
n.559_621delinsA
 ClinVar dbSNP
19g.11105349G>ACA10584921LDLRc.701G>A (p.Cys234Tyr)
c.443G>A (p.Cys148Tyr)
c.697G>A
c.314-2043G>A (n.314-2043G>A)
c.320G>A (p.Cys107Tyr)
c.314-1216G>A (n.314-1216G>A)
c.43G>A
n.593G>A
n.560G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11105349G>CCA10584922LDLRc.701G>C (p.Cys234Ser)
c.443G>C (p.Cys148Ser)
c.697G>C
c.314-2043G>C (n.314-2043G>C)
c.320G>C (p.Cys107Ser)
c.314-1216G>C (n.314-1216G>C)
c.43G>C
n.593G>C
n.560G>C
 ClinVar dbSNP
19g.11105349G=CA2322767389LDLRc.701G= (p.Cys234=)
c.443G= (p.Cys148=)
c.697G=
c.314-2043G= (n.314-2043G=)
c.320G= (p.Cys107=)
c.314-1216G= (n.314-1216G=)
c.43G=
n.593G=
n.560G=
19g.11105349G>TCA404076476LDLRc.701G>T (p.Cys234Phe)
c.443G>T (p.Cys148Phe)
c.697G>T
c.314-2043G>T (n.314-2043G>T)
c.320G>T (p.Cys107Phe)
c.314-1216G>T (n.314-1216G>T)
c.43G>T
n.593G>T
n.560G>T
19g.11105350T>ACA404076478LDLRc.702T>A (p.Cys234Ter)
c.444T>A (p.Cys148Ter)
c.698T>A
c.314-2042T>A (n.314-2042T>A)
c.321T>A (p.Cys107Ter)
c.314-1215T>A (n.314-1215T>A)
c.44T>A
n.594T>A
n.561T>A
19g.11105350T>CCA505743084LDLRc.702T>C (p.Cys234=)
c.444T>C (p.Cys148=)
c.698T>C
c.314-2042T>C (n.314-2042T>C)
c.321T>C (p.Cys107=)
c.314-1215T>C (n.314-1215T>C)
c.44T>C
n.594T>C
n.561T>C
19g.11105350T>GCA10584923LDLRc.702T>G (p.Cys234Trp)
c.444T>G (p.Cys148Trp)
c.698T>G
c.314-2042T>G (n.314-2042T>G)
c.321T>G (p.Cys107Trp)
c.314-1215T>G (n.314-1215T>G)
c.44T>G
n.594T>G
n.561T>G
 ClinVar dbSNP
19g.11105350T=CA2322767390LDLRc.702T= (p.Cys234=)
c.444T= (p.Cys148=)
c.698T=
c.314-2042T= (n.314-2042T=)
c.321T= (p.Cys107=)
c.314-1215T= (n.314-1215T=)
c.44T=
n.594T=
n.561T=
19g.11105351G>ACA404076480LDLRc.703G>A (p.Gly235Ser)
c.445G>A (p.Gly149Ser)
c.699G>A
c.314-2041G>A (n.314-2041G>A)
c.322G>A (p.Gly108Ser)
c.314-1214G>A (n.314-1214G>A)
c.45G>A
n.595G>A
n.562G>A
19g.11105351G>CCA404076482LDLRc.703G>C (p.Gly235Arg)
c.445G>C (p.Gly149Arg)
c.699G>C
c.314-2041G>C (n.314-2041G>C)
c.322G>C (p.Gly108Arg)
c.314-1214G>C (n.314-1214G>C)
c.45G>C
n.595G>C
n.562G>C
 ClinVar dbSNP
19g.11105351G=CA2322767391LDLRc.703G= (p.Gly235=)
c.445G= (p.Gly149=)
c.699G=
c.314-2041G= (n.314-2041G=)
c.322G= (p.Gly108=)
c.314-1214G= (n.314-1214G=)
c.45G=
n.595G=
n.562G=
19g.11105351G>TCA10584924LDLRc.703G>T (p.Gly235Cys)
c.445G>T (p.Gly149Cys)
c.699G>T
c.314-2041G>T (n.314-2041G>T)
c.322G>T (p.Gly108Cys)
c.314-1214G>T (n.314-1214G>T)
c.45G>T
n.595G>T
n.562G>T
 ClinVar dbSNP gnomAD v4
19g.11105352_11110660delCA915941069LDLRc.704_1207del
c.446_949del
c.446_941-854del
c.700_1203del
c.314-2040_445del
c.323_826del
c.314-1213_568del
c.46_541-854del
n.596_1099del
n.563_1066del
19g.11105352G>ACA404076484LDLRc.704G>A (p.Gly235Asp)
c.446G>A (p.Gly149Asp)
c.700G>A
c.314-2040G>A (n.314-2040G>A)
c.323G>A (p.Gly108Asp)
c.314-1213G>A (n.314-1213G>A)
c.46G>A
n.596G>A
n.563G>A
19g.11105352G>CCA404076486LDLRc.704G>C (p.Gly235Ala)
c.446G>C (p.Gly149Ala)
c.700G>C
c.314-2040G>C (n.314-2040G>C)
c.323G>C (p.Gly108Ala)
c.314-1213G>C (n.314-1213G>C)
c.46G>C
n.596G>C
n.563G>C
19g.11105352G>TCA404076485LDLRc.704G>T (p.Gly235Val)
c.446G>T (p.Gly149Val)
c.700G>T
c.314-2040G>T (n.314-2040G>T)
c.323G>T (p.Gly108Val)
c.314-1213G>T (n.314-1213G>T)
c.46G>T
n.596G>T
n.563G>T
19g.11105353T>ACA505743090LDLRc.705T>A (p.Gly235=)
c.447T>A (p.Gly149=)
c.701T>A
c.314-2039T>A (n.314-2039T>A)
c.324T>A (p.Gly108=)
c.314-1212T>A (n.314-1212T>A)
c.47T>A
n.597T>A
n.564T>A
19g.11105353T>CCA043616LDLRc.705T>C (p.Gly235=)
c.447T>C (p.Gly149=)
c.701T>C
c.314-2039T>C (n.314-2039T>C)
c.324T>C (p.Gly108=)
c.314-1212T>C (n.314-1212T>C)
c.47T>C
n.597T>C
n.564T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105353T>GCA505743091LDLRc.705T>G (p.Gly235=)
c.447T>G (p.Gly149=)
c.701T>G
c.314-2039T>G (n.314-2039T>G)
c.324T>G (p.Gly108=)
c.314-1212T>G (n.314-1212T>G)
c.47T>G
n.597T>G
n.564T>G
19g.11105353T=CA2322767392LDLRc.705T= (p.Gly235=)
c.447T= (p.Gly149=)
c.701T=
c.314-2039T= (n.314-2039T=)
c.324T= (p.Gly108=)
c.314-1212T= (n.314-1212T=)
c.47T=
n.597T=
n.564T=
19g.11105354C>ACA404076488LDLRc.706C>A (p.Pro236Thr)
c.448C>A (p.Pro150Thr)
c.702C>A
c.314-2038C>A (n.314-2038C>A)
c.325C>A (p.Pro109Thr)
c.314-1211C>A (n.314-1211C>A)
c.48C>A
n.598C>A
n.565C>A
19g.11105354C>GCA404076490LDLRc.706C>G (p.Pro236Ala)
c.448C>G (p.Pro150Ala)
c.702C>G
c.314-2038C>G (n.314-2038C>G)
c.325C>G (p.Pro109Ala)
c.314-1211C>G (n.314-1211C>G)
c.48C>G
n.598C>G
n.565C>G
19g.11105354C>TCA404076492LDLRc.706C>T (p.Pro236Ser)
c.448C>T (p.Pro150Ser)
c.702C>T
c.314-2038C>T (n.314-2038C>T)
c.325C>T (p.Pro109Ser)
c.314-1211C>T (n.314-1211C>T)
c.48C>T
n.598C>T
n.565C>T
 COSMIC
19g.11105356dupCA10584925LDLRc.708dup (p.Ala237ArgfsTer29)
c.450dup (p.Ala151ArgfsTer29)
c.704dup
c.314-2036dup (n.314-2036dup)
c.327dup (p.Ala110ArgfsTer29)
c.314-1209dup (n.314-1209dup)
c.50dup
n.600dup
n.567dup
 ClinVar dbSNP
19g.11105354_11105357delinsCCCGCA2322767393LDLRc.706_709delinsCCCG (p.Pro236=)
c.448_451delinsCCCG (p.Pro150=)
c.702_705delinsCCCG
c.314-2038_314-2035delinsCCCG (n.314-2038_314-2035delinsCCCG)
c.325_328delinsCCCG (p.Pro109=)
c.314-1211_314-1208delinsCCCG (n.314-1211_314-1208delinsCCCG)
c.48_51delinsCCCG
n.598_601delinsCCCG
n.565_568delinsCCCG
19g.11105355C>ACA404076494LDLRc.707C>A (p.Pro236His)
c.449C>A (p.Pro150His)
c.703C>A
c.314-2037C>A (n.314-2037C>A)
c.326C>A (p.Pro109His)
c.314-1210C>A (n.314-1210C>A)
c.49C>A
n.599C>A
n.566C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105355C=CA2322767394LDLRc.707C= (p.Pro236=)
c.449C= (p.Pro150=)
c.703C=
c.314-2037C= (n.314-2037C=)
c.326C= (p.Pro109=)
c.314-1210C= (n.314-1210C=)
c.49C=
n.599C=
n.566C=
19g.11105355C>GCA404076499LDLRc.707C>G (p.Pro236Arg)
c.449C>G (p.Pro150Arg)
c.703C>G
c.314-2037C>G (n.314-2037C>G)
c.326C>G (p.Pro109Arg)
c.314-1210C>G (n.314-1210C>G)
c.49C>G
n.599C>G
n.566C>G
19g.11105355C>TCA404076497LDLRc.707C>T (p.Pro236Leu)
c.449C>T (p.Pro150Leu)
c.703C>T
c.314-2037C>T (n.314-2037C>T)
c.326C>T (p.Pro109Leu)
c.314-1210C>T (n.314-1210C>T)
c.49C>T
n.599C>T
n.566C>T
19g.11105357_11105359delCA10584927LDLRc.709_711del (p.Ala237del)
c.451_453del (p.Ala151del)
c.705_707del
c.314-2035_314-2033del (n.314-2035_314-2033del)
c.328_330del (p.Ala110del)
c.314-1208_314-1206del (n.314-1208_314-1206del)
c.51_53del
n.601_603del
n.568_570del
 ClinVar dbSNP
19g.11105356C>ACA505743099LDLRc.708C>A (p.Pro236=)
c.450C>A (p.Pro150=)
c.704C>A
c.314-2036C>A (n.314-2036C>A)
c.327C>A (p.Pro109=)
c.314-1209C>A (n.314-1209C>A)
c.50C>A
n.600C>A
n.567C>A
19g.11105356C=CA2322767395LDLRc.708C= (p.Pro236=)
c.450C= (p.Pro150=)
c.704C=
c.314-2036C= (n.314-2036C=)
c.327C= (p.Pro109=)
c.314-1209C= (n.314-1209C=)
c.50C=
n.600C=
n.567C=
19g.11105356C>GCA505743100LDLRc.708C>G (p.Pro236=)
c.450C>G (p.Pro150=)
c.704C>G
c.314-2036C>G (n.314-2036C>G)
c.327C>G (p.Pro109=)
c.314-1209C>G (n.314-1209C>G)
c.50C>G
n.600C>G
n.567C>G
19g.11105356C>TCA043626LDLRc.708C>T (p.Pro236=)
c.450C>T (p.Pro150=)
c.704C>T
c.314-2036C>T (n.314-2036C>T)
c.327C>T (p.Pro109=)
c.314-1209C>T (n.314-1209C>T)
c.50C>T
n.600C>T
n.567C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105357G>ACA10584926LDLRc.709G>A (p.Ala237Thr)
c.451G>A (p.Ala151Thr)
c.705G>A
c.314-2035G>A (n.314-2035G>A)
c.328G>A (p.Ala110Thr)
c.314-1208G>A (n.314-1208G>A)
c.51G>A
n.601G>A
n.568G>A
 ClinVar dbSNP gnomAD v4
19g.11105357G>CCA043633LDLRc.709G>C (p.Ala237Pro)
c.451G>C (p.Ala151Pro)
c.705G>C
c.314-2035G>C (n.314-2035G>C)
c.328G>C (p.Ala110Pro)
c.314-1208G>C (n.314-1208G>C)
c.51G>C
n.601G>C
n.568G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11105357G=CA2322767396LDLRc.709G= (p.Ala237=)
c.451G= (p.Ala151=)
c.705G=
c.314-2035G= (n.314-2035G=)
c.328G= (p.Ala110=)
c.314-1208G= (n.314-1208G=)
c.51G=
n.601G=
n.568G=
19g.11105357G>TCA404076505LDLRc.709G>T (p.Ala237Ser)
c.451G>T (p.Ala151Ser)
c.705G>T
c.314-2035G>T (n.314-2035G>T)
c.328G>T (p.Ala110Ser)
c.314-1208G>T (n.314-1208G>T)
c.51G>T
n.601G>T
n.568G>T
 ClinVar gnomAD v4
19g.11105358C>ACA404076507LDLRc.710C>A (p.Ala237Asp)
c.452C>A (p.Ala151Asp)
c.706C>A
c.314-2034C>A (n.314-2034C>A)
c.329C>A (p.Ala110Asp)
c.314-1207C>A (n.314-1207C>A)
c.52C>A
n.602C>A
n.569C>A
19g.11105358C>GCA404076509LDLRc.710C>G (p.Ala237Gly)
c.452C>G (p.Ala151Gly)
c.706C>G
c.314-2034C>G (n.314-2034C>G)
c.329C>G (p.Ala110Gly)
c.314-1207C>G (n.314-1207C>G)
c.52C>G
n.602C>G
n.569C>G
19g.11105358C>TCA404076511LDLRc.710C>T (p.Ala237Val)
c.452C>T (p.Ala151Val)
c.706C>T
c.314-2034C>T (n.314-2034C>T)
c.329C>T (p.Ala110Val)
c.314-1207C>T (n.314-1207C>T)
c.52C>T
n.602C>T
n.569C>T
19g.11105359C>ACA505743107LDLRc.711C>A (p.Ala237=)
c.453C>A (p.Ala151=)
c.707C>A
c.314-2033C>A (n.314-2033C>A)
c.330C>A (p.Ala110=)
c.314-1206C>A (n.314-1206C>A)
c.53C>A
n.603C>A
n.570C>A
19g.11105359C>GCA505743106LDLRc.711C>G (p.Ala237=)
c.453C>G (p.Ala151=)
c.707C>G
c.314-2033C>G (n.314-2033C>G)
c.330C>G (p.Ala110=)
c.314-1206C>G (n.314-1206C>G)
c.53C>G
n.603C>G
n.570C>G
19g.11105359C>TCA505743105LDLRc.711C>T (p.Ala237=)
c.453C>T (p.Ala151=)
c.707C>T
c.314-2033C>T (n.314-2033C>T)
c.330C>T (p.Ala110=)
c.314-1206C>T (n.314-1206C>T)
c.53C>T
n.603C>T
n.570C>T
 ClinVar dbSNP gnomAD v4
19g.11105360A>CCA404076513LDLRc.712A>C (p.Ser238Arg)
c.454A>C (p.Ser152Arg)
c.708A>C
c.314-2032A>C (n.314-2032A>C)
c.331A>C (p.Ser111Arg)
c.314-1205A>C (n.314-1205A>C)
c.54A>C
n.604A>C
n.571A>C
19g.11105360A>GCA404076515LDLRc.712A>G (p.Ser238Gly)
c.454A>G (p.Ser152Gly)
c.708A>G
c.314-2032A>G (n.314-2032A>G)
c.331A>G (p.Ser111Gly)
c.314-1205A>G (n.314-1205A>G)
c.54A>G
n.604A>G
n.571A>G
 ClinVar
19g.11105360A>TCA404076516LDLRc.712A>T (p.Ser238Cys)
c.454A>T (p.Ser152Cys)
c.708A>T
c.314-2032A>T (n.314-2032A>T)
c.331A>T (p.Ser111Cys)
c.314-1205A>T (n.314-1205A>T)
c.54A>T
n.604A>T
n.571A>T
19g.11105360dupCA2695195460LDLRc.712dup (p.Ser238LysfsTer28)
c.454dup (p.Ser152LysfsTer28)
c.708dup
c.314-2032dup (n.314-2032dup)
c.331dup (p.Ser111LysfsTer28)
c.314-1205dup (n.314-1205dup)
c.54dup
n.604dup
n.571dup
19g.11105361delCA2573050572LDLRc.713del (p.Ser238ThrfsTer?)
c.455del (p.Ser152ThrfsTer?)
c.709del
c.314-2031del (n.314-2031del)
c.332del (p.Ser111ThrfsTer?)
c.314-1204del (n.314-1204del)
c.55del
n.605del
n.572del
19g.11105361G>ACA404076518LDLRc.713G>A (p.Ser238Asn)
c.455G>A (p.Ser152Asn)
c.709G>A
c.314-2031G>A (n.314-2031G>A)
c.332G>A (p.Ser111Asn)
c.314-1204G>A (n.314-1204G>A)
c.55G>A
n.605G>A
n.572G>A
19g.11105361G>CCA404076523LDLRc.713G>C (p.Ser238Thr)
c.455G>C (p.Ser152Thr)
c.709G>C
c.314-2031G>C (n.314-2031G>C)
c.332G>C (p.Ser111Thr)
c.314-1204G>C (n.314-1204G>C)
c.55G>C
n.605G>C
n.572G>C
 gnomAD v4
19g.11105361G>TCA404076520LDLRc.713G>T (p.Ser238Ile)
c.455G>T (p.Ser152Ile)
c.709G>T
c.314-2031G>T (n.314-2031G>T)
c.332G>T (p.Ser111Ile)
c.314-1204G>T (n.314-1204G>T)
c.55G>T
n.605G>T
n.572G>T
19g.11105363_11105371delCA2695223200LDLRc.715_723del (p.Phe239_Cys241del)
c.457_465del (p.Phe153_Cys155del)
c.711_719del
c.314-2029_314-2021del (n.314-2029_314-2021del)
c.334_342del (p.Phe112_Cys114del)
c.314-1202_314-1194del (n.314-1202_314-1194del)
c.57_65del
n.607_615del
n.574_582del
19g.11105362C>ACA404076530LDLRc.714C>A (p.Ser238Arg)
c.456C>A (p.Ser152Arg)
c.710C>A
c.314-2030C>A (n.314-2030C>A)
c.333C>A (p.Ser111Arg)
c.314-1203C>A (n.314-1203C>A)
c.56C>A
n.606C>A
n.573C>A
19g.11105362C=CA2322767397LDLRc.714C= (p.Ser238=)
c.456C= (p.Ser152=)
c.710C=
c.314-2030C= (n.314-2030C=)
c.333C= (p.Ser111=)
c.314-1203C= (n.314-1203C=)
c.56C=
n.606C=
n.573C=
19g.11105362C>GCA404076532LDLRc.714C>G (p.Ser238Arg)
c.456C>G (p.Ser152Arg)
c.710C>G
c.314-2030C>G (n.314-2030C>G)
c.333C>G (p.Ser111Arg)
c.314-1203C>G (n.314-1203C>G)
c.56C>G
n.606C>G
n.573C>G
19g.11105362C>TCA505743112LDLRc.714C>T (p.Ser238=)
c.456C>T (p.Ser152=)
c.710C>T
c.314-2030C>T (n.314-2030C>T)
c.333C>T (p.Ser111=)
c.314-1203C>T (n.314-1203C>T)
c.56C>T
n.606C>T
n.573C>T
 dbSNP
19g.11105363T>ACA404076536LDLRc.715T>A (p.Phe239Ile)
c.457T>A (p.Phe153Ile)
c.711T>A
c.314-2029T>A (n.314-2029T>A)
c.334T>A (p.Phe112Ile)
c.314-1202T>A (n.314-1202T>A)
c.57T>A
n.607T>A
n.574T>A
19g.11105363T>CCA404076539LDLRc.715T>C (p.Phe239Leu)
c.457T>C (p.Phe153Leu)
c.711T>C
c.314-2029T>C (n.314-2029T>C)
c.334T>C (p.Phe112Leu)
c.314-1202T>C (n.314-1202T>C)
c.57T>C
n.607T>C
n.574T>C
 gnomAD v4
19g.11105363T>GCA10584928LDLRc.715T>G (p.Phe239Val)
c.457T>G (p.Phe153Val)
c.711T>G
c.314-2029T>G (n.314-2029T>G)
c.334T>G (p.Phe112Val)
c.314-1202T>G (n.314-1202T>G)
c.57T>G
n.607T>G
n.574T>G
 ClinVar dbSNP
19g.11105363T=CA2322767398LDLRc.715T= (p.Phe239=)
c.457T= (p.Phe153=)
c.711T=
c.314-2029T= (n.314-2029T=)
c.334T= (p.Phe112=)
c.314-1202T= (n.314-1202T=)
c.57T=
n.607T=
n.574T=
19g.11105364T>ACA404076545LDLRc.716T>A (p.Phe239Tyr)
c.458T>A (p.Phe153Tyr)
c.712T>A
c.314-2028T>A (n.314-2028T>A)
c.335T>A (p.Phe112Tyr)
c.314-1201T>A (n.314-1201T>A)
c.58T>A
n.608T>A
n.575T>A
19g.11105364T>CCA404076548LDLRc.716T>C (p.Phe239Ser)
c.458T>C (p.Phe153Ser)
c.712T>C
c.314-2028T>C (n.314-2028T>C)
c.335T>C (p.Phe112Ser)
c.314-1201T>C (n.314-1201T>C)
c.58T>C
n.608T>C
n.575T>C
19g.11105364T>GCA10584929LDLRc.716T>G (p.Phe239Cys)
c.458T>G (p.Phe153Cys)
c.712T>G
c.314-2028T>G (n.314-2028T>G)
c.335T>G (p.Phe112Cys)
c.314-1201T>G (n.314-1201T>G)
c.58T>G
n.608T>G
n.575T>G
 ClinVar dbSNP
19g.11105364T=CA2322767399LDLRc.716T= (p.Phe239=)
c.458T= (p.Phe153=)
c.712T=
c.314-2028T= (n.314-2028T=)
c.335T= (p.Phe112=)
c.314-1201T= (n.314-1201T=)
c.58T=
n.608T=
n.575T=
19g.11105364_11105365delinsTCCA2322767400LDLRc.716_717delinsTC (p.Phe239=)
c.458_459delinsTC (p.Phe153=)
c.712_713delinsTC
c.314-2028_314-2027delinsTC (n.314-2028_314-2027delinsTC)
c.335_336delinsTC (p.Phe112=)
c.314-1201_314-1200delinsTC (n.314-1201_314-1200delinsTC)
c.58_59delinsTC
n.608_609delinsTC
n.575_576delinsTC
19g.11105365C>ACA404076551LDLRc.717C>A (p.Phe239Leu)
c.459C>A (p.Phe153Leu)
c.713C>A
c.314-2027C>A (n.314-2027C>A)
c.336C>A (p.Phe112Leu)
c.314-1200C>A (n.314-1200C>A)
c.59C>A
n.609C>A
n.576C>A
19g.11105365C>GCA404076555LDLRc.717C>G (p.Phe239Leu)
c.459C>G (p.Phe153Leu)
c.713C>G
c.314-2027C>G (n.314-2027C>G)
c.336C>G (p.Phe112Leu)
c.314-1200C>G (n.314-1200C>G)
c.59C>G
n.609C>G
n.576C>G
19g.11105365C>TCA505743119LDLRc.717C>T (p.Phe239=)
c.459C>T (p.Phe153=)
c.713C>T
c.314-2027C>T (n.314-2027C>T)
c.336C>T (p.Phe112=)
c.314-1200C>T (n.314-1200C>T)
c.59C>T
n.609C>T
n.576C>T
19g.11105366delCA645294118LDLRc.718del (p.Gln240SerfsTer?)
c.460del (p.Gln154SerfsTer?)
c.714del
c.314-2026del (n.314-2026del)
c.337del (p.Gln113SerfsTer?)
c.314-1199del (n.314-1199del)
c.60del
n.610del
n.577del
 ClinVar dbSNP
19g.11105366C>ACA404076558LDLRc.718C>A (p.Gln240Lys)
c.460C>A (p.Gln154Lys)
c.714C>A
c.314-2026C>A (n.314-2026C>A)
c.337C>A (p.Gln113Lys)
c.314-1199C>A (n.314-1199C>A)
c.60C>A
n.610C>A
n.577C>A
 COSMIC
19g.11105366C=CA2322767401LDLRc.718C= (p.Gln240=)
c.460C= (p.Gln154=)
c.714C=
c.314-2026C= (n.314-2026C=)
c.337C= (p.Gln113=)
c.314-1199C= (n.314-1199C=)
c.60C=
n.610C=
n.577C=
19g.11105366C>GCA404076561LDLRc.718C>G (p.Gln240Glu)
c.460C>G (p.Gln154Glu)
c.714C>G
c.314-2026C>G (n.314-2026C>G)
c.337C>G (p.Gln113Glu)
c.314-1199C>G (n.314-1199C>G)
c.60C>G
n.610C>G
n.577C>G
19g.11105366C>TCA10584930LDLRc.718C>T (p.Gln240Ter)
c.460C>T (p.Gln154Ter)
c.714C>T
c.314-2026C>T (n.314-2026C>T)
c.337C>T (p.Gln113Ter)
c.314-1199C>T (n.314-1199C>T)
c.60C>T
n.610C>T
n.577C>T
 ClinVar dbSNP
19g.11105367A>CCA404076565LDLRc.719A>C (p.Gln240Pro)
c.461A>C (p.Gln154Pro)
c.715A>C
c.314-2025A>C (n.314-2025A>C)
c.338A>C (p.Gln113Pro)
c.314-1198A>C (n.314-1198A>C)
c.61A>C
n.611A>C
n.578A>C
19g.11105367A>GCA404076569LDLRc.719A>G (p.Gln240Arg)
c.461A>G (p.Gln154Arg)
c.715A>G
c.314-2025A>G (n.314-2025A>G)
c.338A>G (p.Gln113Arg)
c.314-1198A>G (n.314-1198A>G)
c.61A>G
n.611A>G
n.578A>G
19g.11105367A>TCA404076567LDLRc.719A>T (p.Gln240Leu)
c.461A>T (p.Gln154Leu)
c.715A>T
c.314-2025A>T (n.314-2025A>T)
c.338A>T (p.Gln113Leu)
c.314-1198A>T (n.314-1198A>T)
c.61A>T
n.611A>T
n.578A>T
19g.11105368G>ACA505743126LDLRc.720G>A (p.Gln240=)
c.462G>A (p.Gln154=)
c.716G>A
c.314-2024G>A (n.314-2024G>A)
c.339G>A (p.Gln113=)
c.314-1197G>A (n.314-1197G>A)
c.62G>A
n.612G>A
n.579G>A
 ClinVar dbSNP
19g.11105368G>CCA404076573LDLRc.720G>C (p.Gln240His)
c.462G>C (p.Gln154His)
c.716G>C
c.314-2024G>C (n.314-2024G>C)
c.339G>C (p.Gln113His)
c.314-1197G>C (n.314-1197G>C)
c.62G>C
n.612G>C
n.579G>C
 ClinVar dbSNP gnomAD v4
19g.11105368G=CA2322767402LDLRc.720G= (p.Gln240=)
c.462G= (p.Gln154=)
c.716G=
c.314-2024G= (n.314-2024G=)
c.339G= (p.Gln113=)
c.314-1197G= (n.314-1197G=)
c.62G=
n.612G=
n.579G=
19g.11105368G>TCA404076575LDLRc.720G>T (p.Gln240His)
c.462G>T (p.Gln154His)
c.716G>T
c.314-2024G>T (n.314-2024G>T)
c.339G>T (p.Gln113His)
c.314-1197G>T (n.314-1197G>T)
c.62G>T
n.612G>T
n.579G>T
19g.11105369T>ACA404076578LDLRc.721T>A (p.Cys241Ser)
c.463T>A (p.Cys155Ser)
c.717T>A
c.314-2023T>A (n.314-2023T>A)
c.340T>A (p.Cys114Ser)
c.314-1196T>A (n.314-1196T>A)
c.63T>A
n.613T>A
n.580T>A
 ClinVar dbSNP
19g.11105369T>CCA10584931LDLRc.721T>C (p.Cys241Arg)
c.463T>C (p.Cys155Arg)
c.717T>C
c.314-2023T>C (n.314-2023T>C)
c.340T>C (p.Cys114Arg)
c.314-1196T>C (n.314-1196T>C)
c.63T>C
n.613T>C
n.580T>C
 ClinVar dbSNP
19g.11105369T>GCA10584932LDLRc.721T>G (p.Cys241Gly)
c.463T>G (p.Cys155Gly)
c.717T>G
c.314-2023T>G (n.314-2023T>G)
c.340T>G (p.Cys114Gly)
c.314-1196T>G (n.314-1196T>G)
c.63T>G
n.613T>G
n.580T>G
 ClinVar dbSNP
19g.11105369T=CA2322767403LDLRc.721T= (p.Cys241=)
c.463T= (p.Cys155=)
c.717T=
c.314-2023T= (n.314-2023T=)
c.340T= (p.Cys114=)
c.314-1196T= (n.314-1196T=)
c.63T=
n.613T=
n.580T=
19g.11105370G>ACA10584933LDLRc.722G>A (p.Cys241Tyr)
c.464G>A (p.Cys155Tyr)
c.718G>A
c.314-2022G>A (n.314-2022G>A)
c.341G>A (p.Cys114Tyr)
c.314-1195G>A (n.314-1195G>A)
c.64G>A
n.614G>A
n.581G>A
 ClinVar dbSNP
19g.11105370G>CCA404076587LDLRc.722G>C (p.Cys241Ser)
c.464G>C (p.Cys155Ser)
c.718G>C
c.314-2022G>C (n.314-2022G>C)
c.341G>C (p.Cys114Ser)
c.314-1195G>C (n.314-1195G>C)
c.64G>C
n.614G>C
n.581G>C
19g.11105370G=CA2322767404LDLRc.722G= (p.Cys241=)
c.464G= (p.Cys155=)
c.718G=
c.314-2022G= (n.314-2022G=)
c.341G= (p.Cys114=)
c.314-1195G= (n.314-1195G=)
c.64G=
n.614G=
n.581G=
19g.11105370G>TCA10584934LDLRc.722G>T (p.Cys241Phe)
c.464G>T (p.Cys155Phe)
c.718G>T
c.314-2022G>T (n.314-2022G>T)
c.341G>T (p.Cys114Phe)
c.314-1195G>T (n.314-1195G>T)
c.64G>T
n.614G>T
n.581G>T
 ClinVar dbSNP
19g.11105372_11105377delCA2580096441LDLRc.724_729del (p.Asn242_Ser243del)
c.466_471del (p.Asn156_Ser157del)
c.720_725del
c.314-2020_314-2015del (n.314-2020_314-2015del)
c.343_348del (p.Asn115_Ser116del)
c.314-1193_314-1188del (n.314-1193_314-1188del)
c.66_71del
n.616_621del
n.583_588del
 ClinVar
19g.11105371C>ACA043661LDLRc.723C>A (p.Cys241Ter)
c.465C>A (p.Cys155Ter)
c.719C>A
c.314-2021C>A (n.314-2021C>A)
c.342C>A (p.Cys114Ter)
c.314-1194C>A (n.314-1194C>A)
c.65C>A
n.615C>A
n.582C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105371C=CA2322767405LDLRc.723C= (p.Cys241=)
c.465C= (p.Cys155=)
c.719C=
c.314-2021C= (n.314-2021C=)
c.342C= (p.Cys114=)
c.314-1194C= (n.314-1194C=)
c.65C=
n.615C=
n.582C=
19g.11105371C>GCA404076603LDLRc.723C>G (p.Cys241Trp)
c.465C>G (p.Cys155Trp)
c.719C>G
c.314-2021C>G (n.314-2021C>G)
c.342C>G (p.Cys114Trp)
c.314-1194C>G (n.314-1194C>G)
c.65C>G
n.615C>G
n.582C>G
19g.11105371C>TCA505743132LDLRc.723C>T (p.Cys241=)
c.465C>T (p.Cys155=)
c.719C>T
c.314-2021C>T (n.314-2021C>T)
c.342C>T (p.Cys114=)
c.314-1194C>T (n.314-1194C>T)
c.65C>T
n.615C>T
n.582C>T
19g.11105371_11105372delinsCACA2322767406LDLRc.723_724delinsCA (p.Cys241=)
c.465_466delinsCA (p.Cys155=)
c.719_720delinsCA
c.314-2021_314-2020delinsCA (n.314-2021_314-2020delinsCA)
c.342_343delinsCA (p.Cys114=)
c.314-1194_314-1193delinsCA (n.314-1194_314-1193delinsCA)
c.65_66delinsCA
n.615_616delinsCA
n.582_583delinsCA
19g.11105372_11105390dupCA10584935LDLRc.724_742dup (p.Pro248GlnfsTer24)
c.466_484dup (p.Pro162GlnfsTer24)
c.720_738dup
c.314-2020_314-2002dup (n.314-2020_314-2002dup)
c.343_361dup (p.Pro121GlnfsTer24)
c.314-1193_314-1175dup (n.314-1193_314-1175dup)
c.66_84dup
n.616_634dup
n.583_601dup
 ClinVar dbSNP
19g.11105372A>CCA404076613LDLRc.724A>C (p.Asn242His)
c.466A>C (p.Asn156His)
c.720A>C
c.314-2020A>C (n.314-2020A>C)
c.343A>C (p.Asn115His)
c.314-1193A>C (n.314-1193A>C)
c.66A>C
n.616A>C
n.583A>C
19g.11105372A>GCA404076612LDLRc.724A>G (p.Asn242Asp)
c.466A>G (p.Asn156Asp)
c.720A>G
c.314-2020A>G (n.314-2020A>G)
c.343A>G (p.Asn115Asp)
c.314-1193A>G (n.314-1193A>G)
c.66A>G
n.616A>G
n.583A>G
19g.11105372A>TCA404076617LDLRc.724A>T (p.Asn242Tyr)
c.466A>T (p.Asn156Tyr)
c.720A>T
c.314-2020A>T (n.314-2020A>T)
c.343A>T (p.Asn115Tyr)
c.314-1193A>T (n.314-1193A>T)
c.66A>T
n.616A>T
n.583A>T
19g.11105373delCA10654845LDLRc.725del (p.Asn242ThrfsTer?)
c.467del (p.Asn156ThrfsTer?)
c.721del
c.314-2019del (n.314-2019del)
c.344del (p.Asn115ThrfsTer?)
c.314-1192del (n.314-1192del)
c.67del
n.617del
n.584del
 ClinVar dbSNP
19g.11105372_11105374delinsGACA2497030117LDLRc.724_726delinsGA (p.Asn242GlufsTer?)
c.466_468delinsGA (p.Asn156GlufsTer?)
c.720_722delinsGA
c.314-2020_314-2018delinsGA (n.314-2020_314-2018delinsGA)
c.343_345delinsGA (p.Asn115GlufsTer?)
c.314-1193_314-1191delinsGA (n.314-1193_314-1191delinsGA)
c.66_68delinsGA
n.616_618delinsGA
n.583_585delinsGA
19g.11105373A>CCA404076620LDLRc.725A>C (p.Asn242Thr)
c.467A>C (p.Asn156Thr)
c.721A>C
c.314-2019A>C (n.314-2019A>C)
c.344A>C (p.Asn115Thr)
c.314-1192A>C (n.314-1192A>C)
c.67A>C
n.617A>C
n.584A>C
19g.11105373A>GCA404076624LDLRc.725A>G (p.Asn242Ser)
c.467A>G (p.Asn156Ser)
c.721A>G
c.314-2019A>G (n.314-2019A>G)
c.344A>G (p.Asn115Ser)
c.314-1192A>G (n.314-1192A>G)
c.67A>G
n.617A>G
n.584A>G
19g.11105373A>TCA404076627LDLRc.725A>T (p.Asn242Ile)
c.467A>T (p.Asn156Ile)
c.721A>T
c.314-2019A>T (n.314-2019A>T)
c.344A>T (p.Asn115Ile)
c.314-1192A>T (n.314-1192A>T)
c.67A>T
n.617A>T
n.584A>T

Number of alleles fetched