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.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.11105463_11105474delinsGTCTTTACGTGTCA2322767486LDLRc.815_826delinsGTCTTTACGTGT (p.Gly272=)
c.557_568delinsGTCTTTACGTGT (p.Gly186=)
c.811_822delinsGTCTTTACGTGT
c.314-1929_314-1918delinsGTCTTTACGTGT (n.314-1929_314-1918delinsGTCTTTACGTGT)
c.434_445delinsGTCTTTACGTGT (p.Gly145=)
c.314-1102_314-1091delinsGTCTTTACGTGT (n.314-1102_314-1091delinsGTCTTTACGTGT)
c.157_168delinsGTCTTTACGTGT
n.707_718delinsGTCTTTACGTGT
n.674_685delinsGTCTTTACGTGT
19g.11105465_11105468dupCA2695238654LDLRc.817_820dup (p.Tyr274SerfsTer9)
c.559_562dup (p.Tyr188SerfsTer9)
c.813_816dup
c.314-1927_314-1924dup (n.314-1927_314-1924dup)
c.436_439dup (p.Tyr147SerfsTer9)
c.314-1100_314-1097dup (n.314-1100_314-1097dup)
c.159_162dup
n.709_712dup
n.676_679dup
19g.11105466_11105476delCA1139666250LDLRc.818_828del (p.Leu273ProfsTer5)
c.560_570del (p.Leu187ProfsTer5)
c.814_824del
c.314-1926_314-1916del (n.314-1926_314-1916del)
c.437_447del (p.Leu146ProfsTer5)
c.314-1099_314-1089del (n.314-1099_314-1089del)
c.160_170del
n.710_720del
n.677_687del
 ClinVar dbSNP
19g.11105465_11105467delinsCTTCA2322767488LDLRc.817_819delinsCTT (p.Leu273=)
c.559_561delinsCTT (p.Leu187=)
c.813_815delinsCTT
c.314-1927_314-1925delinsCTT (n.314-1927_314-1925delinsCTT)
c.436_438delinsCTT (p.Leu146=)
c.314-1100_314-1098delinsCTT (n.314-1100_314-1098delinsCTT)
c.159_161delinsCTT
n.709_711delinsCTT
n.676_678delinsCTT
19g.11105466T>ACA404077309LDLRc.818T>A (p.Leu273His)
c.560T>A (p.Leu187His)
c.814T>A
c.314-1926T>A (n.314-1926T>A)
c.437T>A (p.Leu146His)
c.314-1099T>A (n.314-1099T>A)
c.160T>A
n.710T>A
n.677T>A
19g.11105466T>CCA404077313LDLRc.818T>C (p.Leu273Pro)
c.560T>C (p.Leu187Pro)
c.814T>C
c.314-1926T>C (n.314-1926T>C)
c.437T>C (p.Leu146Pro)
c.314-1099T>C (n.314-1099T>C)
c.160T>C
n.710T>C
n.677T>C
19g.11105466T>GCA404077314LDLRc.818T>G (p.Leu273Arg)
c.560T>G (p.Leu187Arg)
c.814T>G
c.314-1926T>G (n.314-1926T>G)
c.437T>G (p.Leu146Arg)
c.314-1099T>G (n.314-1099T>G)
c.160T>G
n.710T>G
n.677T>G
19g.11105468delCA10584989LDLRc.820del (p.Tyr274ThrfsTer18)
c.562del (p.Tyr188ThrfsTer18)
c.816del
c.314-1924del (n.314-1924del)
c.439del (p.Tyr147ThrfsTer18)
c.314-1097del (n.314-1097del)
c.162del
n.712del
n.679del
 ClinVar dbSNP gnomAD v4
19g.11105467_11105468delCA10584988LDLRc.819_820del (p.Tyr274ArgfsTer7)
c.561_562del (p.Tyr188ArgfsTer7)
c.815_816del
c.314-1925_314-1924del (n.314-1925_314-1924del)
c.438_439del (p.Tyr147ArgfsTer7)
c.314-1098_314-1097del (n.314-1098_314-1097del)
c.161_162del
n.711_712del
n.678_679del
 ClinVar dbSNP
19g.11105467T>ACA505743379LDLRc.819T>A (p.Leu273=)
c.561T>A (p.Leu187=)
c.815T>A
c.314-1925T>A (n.314-1925T>A)
c.438T>A (p.Leu146=)
c.314-1098T>A (n.314-1098T>A)
c.161T>A
n.711T>A
n.678T>A
19g.11105467T>CCA505743380LDLRc.819T>C (p.Leu273=)
c.561T>C (p.Leu187=)
c.815T>C
c.314-1925T>C (n.314-1925T>C)
c.438T>C (p.Leu146=)
c.314-1098T>C (n.314-1098T>C)
c.161T>C
n.711T>C
n.678T>C
19g.11105467T>GCA505743381LDLRc.819T>G (p.Leu273=)
c.561T>G (p.Leu187=)
c.815T>G
c.314-1925T>G (n.314-1925T>G)
c.438T>G (p.Leu146=)
c.314-1098T>G (n.314-1098T>G)
c.161T>G
n.711T>G
n.678T>G
19g.11105469_11105475delCA2497030121LDLRc.821_827del (p.Tyr274SerfsTer16)
c.563_569del (p.Tyr188SerfsTer16)
c.817_823del
c.314-1923_314-1917del (n.314-1923_314-1917del)
c.440_446del (p.Tyr147SerfsTer16)
c.314-1096_314-1090del (n.314-1096_314-1090del)
c.163_169del
n.713_719del
n.680_686del
19g.11105468T>ACA404077322LDLRc.820T>A (p.Tyr274Asn)
c.562T>A (p.Tyr188Asn)
c.816T>A
c.314-1924T>A (n.314-1924T>A)
c.439T>A (p.Tyr147Asn)
c.314-1097T>A (n.314-1097T>A)
c.162T>A
n.712T>A
n.679T>A
19g.11105468T>CCA404077324LDLRc.820T>C (p.Tyr274His)
c.562T>C (p.Tyr188His)
c.816T>C
c.314-1924T>C (n.314-1924T>C)
c.439T>C (p.Tyr147His)
c.314-1097T>C (n.314-1097T>C)
c.162T>C
n.712T>C
n.679T>C
 dbSNP gnomAD v3 gnomAD v4
19g.11105468T>GCA043935LDLRc.820T>G (p.Tyr274Asp)
c.562T>G (p.Tyr188Asp)
c.816T>G
c.314-1924T>G (n.314-1924T>G)
c.439T>G (p.Tyr147Asp)
c.314-1097T>G (n.314-1097T>G)
c.162T>G
n.712T>G
n.679T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105468T=CA2322767490LDLRc.820T= (p.Tyr274=)
c.562T= (p.Tyr188=)
c.816T=
c.314-1924T= (n.314-1924T=)
c.439T= (p.Tyr147=)
c.314-1097T= (n.314-1097T=)
c.162T=
n.712T=
n.679T=
19g.11105469delCA2497030122LDLRc.821del (p.Tyr274SerfsTer18)
c.563del (p.Tyr188SerfsTer18)
c.817del
c.314-1923del (n.314-1923del)
c.440del (p.Tyr147SerfsTer18)
c.314-1096del (n.314-1096del)
c.163del
n.713del
n.680del
19g.11105469A=CA2322767491LDLRc.821A= (p.Tyr274=)
c.563A= (p.Tyr188=)
c.817A=
c.314-1923A= (n.314-1923A=)
c.440A= (p.Tyr147=)
c.314-1096A= (n.314-1096A=)
c.163A=
n.713A=
n.680A=
19g.11105469A>CCA404077330LDLRc.821A>C (p.Tyr274Ser)
c.563A>C (p.Tyr188Ser)
c.817A>C
c.314-1923A>C (n.314-1923A>C)
c.440A>C (p.Tyr147Ser)
c.314-1096A>C (n.314-1096A>C)
c.163A>C
n.713A>C
n.680A>C
 dbSNP
19g.11105469A>GCA404077332LDLRc.821A>G (p.Tyr274Cys)
c.563A>G (p.Tyr188Cys)
c.817A>G
c.314-1923A>G (n.314-1923A>G)
c.440A>G (p.Tyr147Cys)
c.314-1096A>G (n.314-1096A>G)
c.163A>G
n.713A>G
n.680A>G
19g.11105469A>TCA404077335LDLRc.821A>T (p.Tyr274Phe)
c.563A>T (p.Tyr188Phe)
c.817A>T
c.314-1923A>T (n.314-1923A>T)
c.440A>T (p.Tyr147Phe)
c.314-1096A>T (n.314-1096A>T)
c.163A>T
n.713A>T
n.680A>T
19g.11105470C>ACA10584990LDLRc.822C>A (p.Tyr274Ter)
c.564C>A (p.Tyr188Ter)
c.818C>A
c.314-1922C>A (n.314-1922C>A)
c.441C>A (p.Tyr147Ter)
c.314-1095C>A (n.314-1095C>A)
c.164C>A
n.714C>A
n.681C>A
 ClinVar dbSNP
19g.11105470C=CA2322767492LDLRc.822C= (p.Tyr274=)
c.564C= (p.Tyr188=)
c.818C=
c.314-1922C= (n.314-1922C=)
c.441C= (p.Tyr147=)
c.314-1095C= (n.314-1095C=)
c.164C=
n.714C=
n.681C=
19g.11105470C>GCA023723LDLRc.822C>G (p.Tyr274Ter)
c.564C>G (p.Tyr188Ter)
c.818C>G
c.314-1922C>G (n.314-1922C>G)
c.441C>G (p.Tyr147Ter)
c.314-1095C>G (n.314-1095C>G)
c.164C>G
n.714C>G
n.681C>G
 ClinVar dbSNP gnomAD v4
19g.11105470C>TCA043947LDLRc.822C>T (p.Tyr274=)
c.564C>T (p.Tyr188=)
c.818C>T
c.314-1922C>T (n.314-1922C>T)
c.441C>T (p.Tyr147=)
c.314-1095C>T (n.314-1095C>T)
c.164C>T
n.714C>T
n.681C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105470_11105471delinsCGCA2322767494LDLRc.822_823delinsCG (p.Tyr274=)
c.564_565delinsCG (p.Tyr188=)
c.818_819delinsCG
c.314-1922_314-1921delinsCG (n.314-1922_314-1921delinsCG)
c.441_442delinsCG (p.Tyr147=)
c.314-1095_314-1094delinsCG (n.314-1095_314-1094delinsCG)
c.164_165delinsCG
n.714_715delinsCG
n.681_682delinsCG
19g.11105470_11105474delinsCGTGTCA2322767493LDLRc.822_826delinsCGTGT (p.Tyr274=)
c.564_568delinsCGTGT (p.Tyr188=)
c.818_822delinsCGTGT
c.314-1922_314-1918delinsCGTGT (n.314-1922_314-1918delinsCGTGT)
c.441_445delinsCGTGT (p.Tyr147=)
c.314-1095_314-1091delinsCGTGT (n.314-1095_314-1091delinsCGTGT)
c.164_168delinsCGTGT
n.714_718delinsCGTGT
n.681_685delinsCGTGT
19g.11105471delCA645509261LDLRc.823del (p.Val275CysfsTer17)
c.565del (p.Val189CysfsTer17)
c.819del
c.314-1921del (n.314-1921del)
c.442del (p.Val148CysfsTer17)
c.314-1094del (n.314-1094del)
c.165del
n.715del
n.682del
 ClinVar dbSNP
19g.11105471G>ACA10584991LDLRc.823G>A (p.Val275Met)
c.565G>A (p.Val189Met)
c.819G>A
c.314-1921G>A (n.314-1921G>A)
c.442G>A (p.Val148Met)
c.314-1094G>A (n.314-1094G>A)
c.165G>A
n.715G>A
n.682G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105471G>CCA043955LDLRc.823G>C (p.Val275Leu)
c.565G>C (p.Val189Leu)
c.819G>C
c.314-1921G>C (n.314-1921G>C)
c.442G>C (p.Val148Leu)
c.314-1094G>C (n.314-1094G>C)
c.165G>C
n.715G>C
n.682G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105471G=CA2322767496LDLRc.823G= (p.Val275=)
c.565G= (p.Val189=)
c.819G=
c.314-1921G= (n.314-1921G=)
c.442G= (p.Val148=)
c.314-1094G= (n.314-1094G=)
c.165G=
n.715G=
n.682G=
19g.11105471G>TCA404077348LDLRc.823G>T (p.Val275Leu)
c.565G>T (p.Val189Leu)
c.819G>T
c.314-1921G>T (n.314-1921G>T)
c.442G>T (p.Val148Leu)
c.314-1094G>T (n.314-1094G>T)
c.165G>T
n.715G>T
n.682G>T
 COSMIC
19g.11105471_11105474delinsTGCA645373226LDLRc.823_826delinsTG (p.Val275CysfsTer6)
c.565_568delinsTG (p.Val189CysfsTer6)
c.819_822delinsTG
c.314-1921_314-1918delinsTG (n.314-1921_314-1918delinsTG)
c.442_445delinsTG (p.Val148CysfsTer6)
c.314-1094_314-1091delinsTG (n.314-1094_314-1091delinsTG)
c.165_168delinsTG
n.715_718delinsTG
n.682_685delinsTG
 ClinVar dbSNP
19g.11105471_11105494delinsGTGTTCCAAGGGGACAGTAGCCCCCA2322767495LDLRc.823_846delinsGTGTTCCAAGGGGACAGTAGCCCC (p.Val275=)
c.565_588delinsGTGTTCCAAGGGGACAGTAGCCCC (p.Val189=)
c.819_842delinsGTGTTCCAAGGGGACAGTAGCCCC
c.314-1921_314-1898delinsGTGTTCCAAGGGGACAGTAGCCCC (n.314-1921_314-1898delinsGTGTTCCAAGGGGACAGTAGCCCC)
c.442_465delinsGTGTTCCAAGGGGACAGTAGCCCC (p.Val148=)
c.314-1094_314-1071delinsGTGTTCCAAGGGGACAGTAGCCCC (n.314-1094_314-1071delinsGTGTTCCAAGGGGACAGTAGCCCC)
c.165_188delinsGTGTTCCAAGGGGACAGTAGCCCC
n.715_738delinsGTGTTCCAAGGGGACAGTAGCCCC
n.682_705delinsGTGTTCCAAGGGGACAGTAGCCCC
19g.11105472T>ACA404077352LDLRc.824T>A (p.Val275Glu)
c.566T>A (p.Val189Glu)
c.820T>A
c.314-1920T>A (n.314-1920T>A)
c.443T>A (p.Val148Glu)
c.314-1093T>A (n.314-1093T>A)
c.166T>A
n.716T>A
n.683T>A
19g.11105472T>CCA404077362LDLRc.824T>C (p.Val275Ala)
c.566T>C (p.Val189Ala)
c.820T>C
c.314-1920T>C (n.314-1920T>C)
c.443T>C (p.Val148Ala)
c.314-1093T>C (n.314-1093T>C)
c.166T>C
n.716T>C
n.683T>C
19g.11105472T>GCA404077365LDLRc.824T>G (p.Val275Gly)
c.566T>G (p.Val189Gly)
c.820T>G
c.314-1920T>G (n.314-1920T>G)
c.443T>G (p.Val148Gly)
c.314-1093T>G (n.314-1093T>G)
c.166T>G
n.716T>G
n.683T>G
19g.11105474_11105496delCA10584992LDLRc.826_848del (p.Phe276LeufsTer20)
c.568_590del (p.Phe190LeufsTer20)
c.822_844del
c.314-1918_314-1896del (n.314-1918_314-1896del)
c.445_467del (p.Phe149LeufsTer20)
c.314-1091_314-1069del (n.314-1091_314-1069del)
c.168_190del
n.718_740del
n.685_707del
 ClinVar dbSNP
19g.11105473G>ACA505743390LDLRc.825G>A (p.Val275=)
c.567G>A (p.Val189=)
c.821G>A
c.314-1919G>A (n.314-1919G>A)
c.444G>A (p.Val148=)
c.314-1092G>A (n.314-1092G>A)
c.167G>A
n.717G>A
n.684G>A
 dbSNP
19g.11105473G>CCA505743392LDLRc.825G>C (p.Val275=)
c.567G>C (p.Val189=)
c.821G>C
c.314-1919G>C (n.314-1919G>C)
c.444G>C (p.Val148=)
c.314-1092G>C (n.314-1092G>C)
c.167G>C
n.717G>C
n.684G>C
 ClinVar dbSNP gnomAD v4
19g.11105473G=CA2322767497LDLRc.825G= (p.Val275=)
c.567G= (p.Val189=)
c.821G=
c.314-1919G= (n.314-1919G=)
c.444G= (p.Val148=)
c.314-1092G= (n.314-1092G=)
c.167G=
n.717G=
n.684G=
19g.11105473G>TCA043979LDLRc.825G>T (p.Val275=)
c.567G>T (p.Val189=)
c.821G>T
c.314-1919G>T (n.314-1919G>T)
c.444G>T (p.Val148=)
c.314-1092G>T (n.314-1092G>T)
c.167G>T
n.717G>T
n.684G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105474T>ACA404077388LDLRc.826T>A (p.Phe276Ile)
c.568T>A (p.Phe190Ile)
c.822T>A
c.314-1918T>A (n.314-1918T>A)
c.445T>A (p.Phe149Ile)
c.314-1091T>A (n.314-1091T>A)
c.168T>A
n.718T>A
n.685T>A
19g.11105474T>CCA404077392LDLRc.826T>C (p.Phe276Leu)
c.568T>C (p.Phe190Leu)
c.822T>C
c.314-1918T>C (n.314-1918T>C)
c.445T>C (p.Phe149Leu)
c.314-1091T>C (n.314-1091T>C)
c.168T>C
n.718T>C
n.685T>C
19g.11105474T>GCA404077396LDLRc.826T>G (p.Phe276Val)
c.568T>G (p.Phe190Val)
c.822T>G
c.314-1918T>G (n.314-1918T>G)
c.445T>G (p.Phe149Val)
c.314-1091T>G (n.314-1091T>G)
c.168T>G
n.718T>G
n.685T>G
19g.11105475T>ACA404077414LDLRc.827T>A (p.Phe276Tyr)
c.569T>A (p.Phe190Tyr)
c.823T>A
c.314-1917T>A (n.314-1917T>A)
c.446T>A (p.Phe149Tyr)
c.314-1090T>A (n.314-1090T>A)
c.169T>A
n.719T>A
n.686T>A
19g.11105475T>CCA404077404LDLRc.827T>C (p.Phe276Ser)
c.569T>C (p.Phe190Ser)
c.823T>C
c.314-1917T>C (n.314-1917T>C)
c.446T>C (p.Phe149Ser)
c.314-1090T>C (n.314-1090T>C)
c.169T>C
n.719T>C
n.686T>C
19g.11105475T>GCA404077401LDLRc.827T>G (p.Phe276Cys)
c.569T>G (p.Phe190Cys)
c.823T>G
c.314-1917T>G (n.314-1917T>G)
c.446T>G (p.Phe149Cys)
c.314-1090T>G (n.314-1090T>G)
c.169T>G
n.719T>G
n.686T>G
19g.11105476C>ACA404077419LDLRc.828C>A (p.Phe276Leu)
c.570C>A (p.Phe190Leu)
c.824C>A
c.314-1916C>A (n.314-1916C>A)
c.447C>A (p.Phe149Leu)
c.314-1089C>A (n.314-1089C>A)
c.170C>A
n.720C>A
n.687C>A
19g.11105476C=CA2322767498LDLRc.828C= (p.Phe276=)
c.570C= (p.Phe190=)
c.824C=
c.314-1916C= (n.314-1916C=)
c.447C= (p.Phe149=)
c.314-1089C= (n.314-1089C=)
c.170C=
n.720C=
n.687C=
19g.11105476C>GCA404077421LDLRc.828C>G (p.Phe276Leu)
c.570C>G (p.Phe190Leu)
c.824C>G
c.314-1916C>G (n.314-1916C>G)
c.447C>G (p.Phe149Leu)
c.314-1089C>G (n.314-1089C>G)
c.170C>G
n.720C>G
n.687C>G
 dbSNP gnomAD v3 gnomAD v4
19g.11105476C>TCA305296876LDLRc.828C>T (p.Phe276=)
c.570C>T (p.Phe190=)
c.824C>T
c.314-1916C>T (n.314-1916C>T)
c.447C>T (p.Phe149=)
c.314-1089C>T (n.314-1089C>T)
c.170C>T
n.720C>T
n.687C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11105477C>ACA404077435LDLRc.829C>A (p.Gln277Lys)
c.571C>A (p.Gln191Lys)
c.825C>A
c.314-1915C>A (n.314-1915C>A)
c.448C>A (p.Gln150Lys)
c.314-1088C>A (n.314-1088C>A)
c.171C>A
n.721C>A
n.688C>A
19g.11105477C=CA2322767499LDLRc.829C= (p.Gln277=)
c.571C= (p.Gln191=)
c.825C=
c.314-1915C= (n.314-1915C=)
c.448C= (p.Gln150=)
c.314-1088C= (n.314-1088C=)
c.171C=
n.721C=
n.688C=
19g.11105477C>GCA404077436LDLRc.829C>G (p.Gln277Glu)
c.571C>G (p.Gln191Glu)
c.825C>G
c.314-1915C>G (n.314-1915C>G)
c.448C>G (p.Gln150Glu)
c.314-1088C>G (n.314-1088C>G)
c.171C>G
n.721C>G
n.688C>G
19g.11105477C>TCA10584993LDLRc.829C>T (p.Gln277Ter)
c.571C>T (p.Gln191Ter)
c.825C>T
c.314-1915C>T (n.314-1915C>T)
c.448C>T (p.Gln150Ter)
c.314-1088C>T (n.314-1088C>T)
c.171C>T
n.721C>T
n.688C>T
 ClinVar dbSNP
19g.11105477_11105483delinsGCCCAATCA2497030123LDLRc.829_835delinsGCCCAAT (p.Gln277_Asp279delinsAlaGlnTyr)
c.571_577delinsGCCCAAT (p.Gln191_Asp193delinsAlaGlnTyr)
c.825_831delinsGCCCAAT
c.314-1915_314-1909delinsGCCCAAT (n.314-1915_314-1909delinsGCCCAAT)
c.448_454delinsGCCCAAT (p.Gln150_Asp152delinsAlaGlnTyr)
c.314-1088_314-1082delinsGCCCAAT (n.314-1088_314-1082delinsGCCCAAT)
c.171_177delinsGCCCAAT
n.721_727delinsGCCCAAT
n.688_694delinsGCCCAAT
19g.11105478A=CA2322767500LDLRc.830A= (p.Gln277=)
c.572A= (p.Gln191=)
c.826A=
c.314-1914A= (n.314-1914A=)
c.449A= (p.Gln150=)
c.314-1087A= (n.314-1087A=)
c.172A=
n.722A=
n.689A=
19g.11105478A>CCA404077452LDLRc.830A>C (p.Gln277Pro)
c.572A>C (p.Gln191Pro)
c.826A>C
c.314-1914A>C (n.314-1914A>C)
c.449A>C (p.Gln150Pro)
c.314-1087A>C (n.314-1087A>C)
c.172A>C
n.722A>C
n.689A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11105478A>GCA404077439LDLRc.830A>G (p.Gln277Arg)
c.572A>G (p.Gln191Arg)
c.826A>G
c.314-1914A>G (n.314-1914A>G)
c.449A>G (p.Gln150Arg)
c.314-1087A>G (n.314-1087A>G)
c.172A>G
n.722A>G
n.689A>G
19g.11105478A>TCA404077448LDLRc.830A>T (p.Gln277Leu)
c.572A>T (p.Gln191Leu)
c.826A>T
c.314-1914A>T (n.314-1914A>T)
c.449A>T (p.Gln150Leu)
c.314-1087A>T (n.314-1087A>T)
c.172A>T
n.722A>T
n.689A>T
19g.11105479A=CA2322767501LDLRc.831A= (p.Gln277=)
c.573A= (p.Gln191=)
c.827A=
c.314-1913A= (n.314-1913A=)
c.450A= (p.Gln150=)
c.314-1086A= (n.314-1086A=)
c.173A=
n.723A=
n.690A=
19g.11105479A>CCA404077457LDLRc.831A>C (p.Gln277His)
c.573A>C (p.Gln191His)
c.827A>C
c.314-1913A>C (n.314-1913A>C)
c.450A>C (p.Gln150His)
c.314-1086A>C (n.314-1086A>C)
c.173A>C
n.723A>C
n.690A>C
19g.11105479A>GCA505743402LDLRc.831A>G (p.Gln277=)
c.573A>G (p.Gln191=)
c.827A>G
c.314-1913A>G (n.314-1913A>G)
c.450A>G (p.Gln150=)
c.314-1086A>G (n.314-1086A>G)
c.173A>G
n.723A>G
n.690A>G
 gnomAD v4
19g.11105479A>TCA404077461LDLRc.831A>T (p.Gln277His)
c.573A>T (p.Gln191His)
c.827A>T
c.314-1913A>T (n.314-1913A>T)
c.450A>T (p.Gln150His)
c.314-1086A>T (n.314-1086A>T)
c.173A>T
n.723A>T
n.690A>T
19g.11105480G>ACA404077465LDLRc.832G>A (p.Gly278Arg)
c.574G>A (p.Gly192Arg)
c.828G>A
c.314-1912G>A (n.314-1912G>A)
c.451G>A (p.Gly151Arg)
c.314-1085G>A (n.314-1085G>A)
c.174G>A
n.724G>A
n.691G>A
 gnomAD v4
19g.11105480G>CCA404077468LDLRc.832G>C (p.Gly278Arg)
c.574G>C (p.Gly192Arg)
c.828G>C
c.314-1912G>C (n.314-1912G>C)
c.451G>C (p.Gly151Arg)
c.314-1085G>C (n.314-1085G>C)
c.174G>C
n.724G>C
n.691G>C
 ClinVar dbSNP
19g.11105480G=CA2322767502LDLRc.832G= (p.Gly278=)
c.574G= (p.Gly192=)
c.828G=
c.314-1912G= (n.314-1912G=)
c.451G= (p.Gly151=)
c.314-1085G= (n.314-1085G=)
c.174G=
n.724G=
n.691G=
19g.11105480G>TCA404077473LDLRc.832G>T (p.Gly278Trp)
c.574G>T (p.Gly192Trp)
c.828G>T
c.314-1912G>T (n.314-1912G>T)
c.451G>T (p.Gly151Trp)
c.314-1085G>T (n.314-1085G>T)
c.174G>T
n.724G>T
n.691G>T
19g.11105483dupCA916080161LDLRc.835dup (p.Asp279GlyfsTer3)
c.577dup (p.Asp193GlyfsTer3)
c.831dup
c.314-1909dup (n.314-1909dup)
c.454dup (p.Asp152GlyfsTer3)
c.314-1082dup (n.314-1082dup)
c.177dup
n.727dup
n.694dup
 ClinVar dbSNP
19g.11105481G>ACA404077478LDLRc.833G>A (p.Gly278Glu)
c.575G>A (p.Gly192Glu)
c.829G>A
c.314-1911G>A (n.314-1911G>A)
c.452G>A (p.Gly151Glu)
c.314-1084G>A (n.314-1084G>A)
c.175G>A
n.725G>A
n.692G>A
19g.11105481G>CCA404077481LDLRc.833G>C (p.Gly278Ala)
c.575G>C (p.Gly192Ala)
c.829G>C
c.314-1911G>C (n.314-1911G>C)
c.452G>C (p.Gly151Ala)
c.314-1084G>C (n.314-1084G>C)
c.175G>C
n.725G>C
n.692G>C
19g.11105481G>TCA404077484LDLRc.833G>T (p.Gly278Val)
c.575G>T (p.Gly192Val)
c.829G>T
c.314-1911G>T (n.314-1911G>T)
c.452G>T (p.Gly151Val)
c.314-1084G>T (n.314-1084G>T)
c.175G>T
n.725G>T
n.692G>T
19g.11105482G>ACA505743407LDLRc.834G>A (p.Gly278=)
c.576G>A (p.Gly192=)
c.830G>A
c.314-1910G>A (n.314-1910G>A)
c.453G>A (p.Gly151=)
c.314-1083G>A (n.314-1083G>A)
c.176G>A
n.726G>A
n.693G>A
19g.11105482G>CCA505743408LDLRc.834G>C (p.Gly278=)
c.576G>C (p.Gly192=)
c.830G>C
c.314-1910G>C (n.314-1910G>C)
c.453G>C (p.Gly151=)
c.314-1083G>C (n.314-1083G>C)
c.176G>C
n.726G>C
n.693G>C
 dbSNP gnomAD v2 gnomAD v4
19g.11105482G=CA2322767504LDLRc.834G= (p.Gly278=)
c.576G= (p.Gly192=)
c.830G=
c.314-1910G= (n.314-1910G=)
c.453G= (p.Gly151=)
c.314-1083G= (n.314-1083G=)
c.176G=
n.726G=
n.693G=
19g.11105482G>TCA505743409LDLRc.834G>T (p.Gly278=)
c.576G>T (p.Gly192=)
c.830G>T
c.314-1910G>T (n.314-1910G>T)
c.453G>T (p.Gly151=)
c.314-1083G>T (n.314-1083G>T)
c.176G>T
n.726G>T
n.693G>T
19g.11105482_11105489delinsGGACAGTACA2322767503LDLRc.834_841delinsGGACAGTA (p.Gly278=)
c.576_583delinsGGACAGTA (p.Gly192=)
c.830_837delinsGGACAGTA
c.314-1910_314-1903delinsGGACAGTA (n.314-1910_314-1903delinsGGACAGTA)
c.453_460delinsGGACAGTA (p.Gly151=)
c.314-1083_314-1076delinsGGACAGTA (n.314-1083_314-1076delinsGGACAGTA)
c.176_183delinsGGACAGTA
n.726_733delinsGGACAGTA
n.693_700delinsGGACAGTA
19g.11105483G>ACA404077488LDLRc.835G>A (p.Asp279Asn)
c.577G>A (p.Asp193Asn)
c.831G>A
c.314-1909G>A (n.314-1909G>A)
c.454G>A (p.Asp152Asn)
c.314-1082G>A (n.314-1082G>A)
c.177G>A
n.727G>A
n.694G>A
19g.11105483G>CCA404077489LDLRc.835G>C (p.Asp279His)
c.577G>C (p.Asp193His)
c.831G>C
c.314-1909G>C (n.314-1909G>C)
c.454G>C (p.Asp152His)
c.314-1082G>C (n.314-1082G>C)
c.177G>C
n.727G>C
n.694G>C
19g.11105483G>TCA404077490LDLRc.835G>T (p.Asp279Tyr)
c.577G>T (p.Asp193Tyr)
c.831G>T
c.314-1909G>T (n.314-1909G>T)
c.454G>T (p.Asp152Tyr)
c.314-1082G>T (n.314-1082G>T)
c.177G>T
n.727G>T
n.694G>T
19g.11105483_11105484delinsGACA2322767505LDLRc.835_836delinsGA (p.Asp279=)
c.577_578delinsGA (p.Asp193=)
c.831_832delinsGA
c.314-1909_314-1908delinsGA (n.314-1909_314-1908delinsGA)
c.454_455delinsGA (p.Asp152=)
c.314-1082_314-1081delinsGA (n.314-1082_314-1081delinsGA)
c.177_178delinsGA
n.727_728delinsGA
n.694_695delinsGA
19g.11105484_11105490delCA10584994LDLRc.836_842del (p.Asp279AlafsTer11)
c.578_584del (p.Asp193AlafsTer11)
c.832_838del
c.314-1908_314-1902del (n.314-1908_314-1902del)
c.455_461del (p.Asp152AlafsTer11)
c.314-1081_314-1075del (n.314-1081_314-1075del)
c.178_184del
n.728_734del
n.695_701del
 ClinVar dbSNP
19g.11105484delCA10584995LDLRc.836del (p.Asp279AlafsTer13)
c.578del (p.Asp193AlafsTer13)
c.832del
c.314-1908del (n.314-1908del)
c.455del (p.Asp152AlafsTer13)
c.314-1081del (n.314-1081del)
c.178del
n.728del
n.695del
 ClinVar dbSNP
19g.11105484A=CA2322767506LDLRc.836A= (p.Asp279=)
c.578A= (p.Asp193=)
c.832A=
c.314-1908A= (n.314-1908A=)
c.455A= (p.Asp152=)
c.314-1081A= (n.314-1081A=)
c.178A=
n.728A=
n.695A=
19g.11105484A>CCA404077503LDLRc.836A>C (p.Asp279Ala)
c.578A>C (p.Asp193Ala)
c.832A>C
c.314-1908A>C (n.314-1908A>C)
c.455A>C (p.Asp152Ala)
c.314-1081A>C (n.314-1081A>C)
c.178A>C
n.728A>C
n.695A>C
19g.11105484A>GCA305296879LDLRc.836A>G (p.Asp279Gly)
c.578A>G (p.Asp193Gly)
c.832A>G
c.314-1908A>G (n.314-1908A>G)
c.455A>G (p.Asp152Gly)
c.314-1081A>G (n.314-1081A>G)
c.178A>G
n.728A>G
n.695A>G
 dbSNP
19g.11105484A>TCA404077507LDLRc.836A>T (p.Asp279Val)
c.578A>T (p.Asp193Val)
c.832A>T
c.314-1908A>T (n.314-1908A>T)
c.455A>T (p.Asp152Val)
c.314-1081A>T (n.314-1081A>T)
c.178A>T
n.728A>T
n.695A>T
19g.11105484_11105485delinsACCA2322767507LDLRc.836_837delinsAC (p.Asp279=)
c.578_579delinsAC (p.Asp193=)
c.832_833delinsAC
c.314-1908_314-1907delinsAC (n.314-1908_314-1907delinsAC)
c.455_456delinsAC (p.Asp152=)
c.314-1081_314-1080delinsAC (n.314-1081_314-1080delinsAC)
c.178_179delinsAC
n.728_729delinsAC
n.695_696delinsAC
19g.11105485delCA916080162LDLRc.837del (p.Asp279GlufsTer13)
c.579del (p.Asp193GlufsTer13)
c.833del
c.314-1907del (n.314-1907del)
c.456del (p.Asp152GlufsTer13)
c.314-1080del (n.314-1080del)
c.179del
n.729del
n.696del
 ClinVar dbSNP
19g.11105485C>ACA404077508LDLRc.837C>A (p.Asp279Glu)
c.579C>A (p.Asp193Glu)
c.833C>A
c.314-1907C>A (n.314-1907C>A)
c.456C>A (p.Asp152Glu)
c.314-1080C>A (n.314-1080C>A)
c.179C>A
n.729C>A
n.696C>A
 dbSNP
19g.11105485C=CA2322767508LDLRc.837C= (p.Asp279=)
c.579C= (p.Asp193=)
c.833C=
c.314-1907C= (n.314-1907C=)
c.456C= (p.Asp152=)
c.314-1080C= (n.314-1080C=)
c.179C=
n.729C=
n.696C=
19g.11105485C>GCA404077509LDLRc.837C>G (p.Asp279Glu)
c.579C>G (p.Asp193Glu)
c.833C>G
c.314-1907C>G (n.314-1907C>G)
c.456C>G (p.Asp152Glu)
c.314-1080C>G (n.314-1080C>G)
c.179C>G
n.729C>G
n.696C>G
 gnomAD v4
19g.11105485C>TCA505743415LDLRc.837C>T (p.Asp279=)
c.579C>T (p.Asp193=)
c.833C>T
c.314-1907C>T (n.314-1907C>T)
c.456C>T (p.Asp152=)
c.314-1080C>T (n.314-1080C>T)
c.179C>T
n.729C>T
n.696C>T
 gnomAD v4
19g.11105486A=CA2322767510LDLRc.838A= (p.Ser280=)
c.580A= (p.Ser194=)
c.834A=
c.314-1906A= (n.314-1906A=)
c.457A= (p.Ser153=)
c.314-1079A= (n.314-1079A=)
c.180A=
n.730A=
n.697A=
19g.11105486A>CCA404077514LDLRc.838A>C (p.Ser280Arg)
c.580A>C (p.Ser194Arg)
c.834A>C
c.314-1906A>C (n.314-1906A>C)
c.457A>C (p.Ser153Arg)
c.314-1079A>C (n.314-1079A>C)
c.180A>C
n.730A>C
n.697A>C
19g.11105486A>GCA305296881LDLRc.838A>G (p.Ser280Gly)
c.580A>G (p.Ser194Gly)
c.834A>G
c.314-1906A>G (n.314-1906A>G)
c.457A>G (p.Ser153Gly)
c.314-1079A>G (n.314-1079A>G)
c.180A>G
n.730A>G
n.697A>G
 ClinVar dbSNP gnomAD v4
19g.11105486A>TCA404077522LDLRc.838A>T (p.Ser280Cys)
c.580A>T (p.Ser194Cys)
c.834A>T
c.314-1906A>T (n.314-1906A>T)
c.457A>T (p.Ser153Cys)
c.314-1079A>T (n.314-1079A>T)
c.180A>T
n.730A>T
n.697A>T
19g.11105486_11105487delinsAGCA2322767509LDLRc.838_839delinsAG (p.Ser280=)
c.580_581delinsAG (p.Ser194=)
c.834_835delinsAG
c.314-1906_314-1905delinsAG (n.314-1906_314-1905delinsAG)
c.457_458delinsAG (p.Ser153=)
c.314-1079_314-1078delinsAG (n.314-1079_314-1078delinsAG)
c.180_181delinsAG
n.730_731delinsAG
n.697_698delinsAG
19g.11105487delCA993532450LDLRc.839del (p.Ser280IlefsTer12)
c.581del (p.Ser194IlefsTer12)
c.835del
c.314-1905del (n.314-1905del)
c.458del (p.Ser153IlefsTer12)
c.314-1078del (n.314-1078del)
c.181del
n.731del
n.698del
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11105487G>ACA404077527LDLRc.839G>A (p.Ser280Asn)
c.581G>A (p.Ser194Asn)
c.835G>A
c.314-1905G>A (n.314-1905G>A)
c.458G>A (p.Ser153Asn)
c.314-1078G>A (n.314-1078G>A)
c.181G>A
n.731G>A
n.698G>A
 COSMIC
19g.11105487G>CCA404077531LDLRc.839G>C (p.Ser280Thr)
c.581G>C (p.Ser194Thr)
c.835G>C
c.314-1905G>C (n.314-1905G>C)
c.458G>C (p.Ser153Thr)
c.314-1078G>C (n.314-1078G>C)
c.181G>C
n.731G>C
n.698G>C
19g.11105487G=CA2322767511LDLRc.839G= (p.Ser280=)
c.581G= (p.Ser194=)
c.835G=
c.314-1905G= (n.314-1905G=)
c.458G= (p.Ser153=)
c.314-1078G= (n.314-1078G=)
c.181G=
n.731G=
n.698G=
19g.11105487G>TCA404077533LDLRc.839G>T (p.Ser280Ile)
c.581G>T (p.Ser194Ile)
c.835G>T
c.314-1905G>T (n.314-1905G>T)
c.458G>T (p.Ser153Ile)
c.314-1078G>T (n.314-1078G>T)
c.181G>T
n.731G>T
n.698G>T
19g.11105487_11105489delinsCTGCTCGCA2573320539LDLRc.839_841delinsCTGCTCG (p.Ser280ThrfsTer25)
c.581_583delinsCTGCTCG (p.Ser194ThrfsTer25)
c.835_837delinsCTGCTCG
c.314-1905_314-1903delinsCTGCTCG (n.314-1905_314-1903delinsCTGCTCG)
c.458_460delinsCTGCTCG (p.Ser153ThrfsTer25)
c.314-1078_314-1076delinsCTGCTCG (n.314-1078_314-1076delinsCTGCTCG)
c.181_183delinsCTGCTCG
n.731_733delinsCTGCTCG
n.698_700delinsCTGCTCG
19g.11105487_11105494delinsGTAGCCCCCA2322767512LDLRc.839_846delinsGTAGCCCC (p.Ser280=)
c.581_588delinsGTAGCCCC (p.Ser194=)
c.835_842delinsGTAGCCCC
c.314-1905_314-1898delinsGTAGCCCC (n.314-1905_314-1898delinsGTAGCCCC)
c.458_465delinsGTAGCCCC (p.Ser153=)
c.314-1078_314-1071delinsGTAGCCCC (n.314-1078_314-1071delinsGTAGCCCC)
c.181_188delinsGTAGCCCC
n.731_738delinsGTAGCCCC
n.698_705delinsGTAGCCCC
19g.11105487_11105488insACA10584996LDLRc.839_840insA (p.Ser280ArgfsTer2)
c.581_582insA (p.Ser194ArgfsTer2)
c.835_836insA
c.314-1905_314-1904insA (n.314-1905_314-1904insA)
c.458_459insA (p.Ser153ArgfsTer2)
c.314-1078_314-1077insA (n.314-1078_314-1077insA)
c.181_182insA
n.731_732insA
n.698_699insA
 ClinVar dbSNP
19g.11105488T>ACA404077542LDLRc.840T>A (p.Ser280Arg)
c.582T>A (p.Ser194Arg)
c.836T>A
c.314-1904T>A (n.314-1904T>A)
c.459T>A (p.Ser153Arg)
c.314-1077T>A (n.314-1077T>A)
c.182T>A
n.732T>A
n.699T>A
19g.11105488T>CCA505743419LDLRc.840T>C (p.Ser280=)
c.582T>C (p.Ser194=)
c.836T>C
c.314-1904T>C (n.314-1904T>C)
c.459T>C (p.Ser153=)
c.314-1077T>C (n.314-1077T>C)
c.182T>C
n.732T>C
n.699T>C
19g.11105488T>GCA404077546LDLRc.840T>G (p.Ser280Arg)
c.582T>G (p.Ser194Arg)
c.836T>G
c.314-1904T>G (n.314-1904T>G)
c.459T>G (p.Ser153Arg)
c.314-1077T>G (n.314-1077T>G)
c.182T>G
n.732T>G
n.699T>G
19g.11105489_11105495delCA10584997LDLRc.841_847del (p.Ser281AlafsTer9)
c.583_589del (p.Ser195AlafsTer9)
c.837_843del
c.314-1903_314-1897del (n.314-1903_314-1897del)
c.460_466del (p.Ser154AlafsTer9)
c.314-1076_314-1070del (n.314-1076_314-1070del)
c.183_189del
n.733_739del
n.700_706del
 ClinVar dbSNP
19g.11105489A>CCA404077553LDLRc.841A>C (p.Ser281Arg)
c.583A>C (p.Ser195Arg)
c.837A>C
c.314-1903A>C (n.314-1903A>C)
c.460A>C (p.Ser154Arg)
c.314-1076A>C (n.314-1076A>C)
c.183A>C
n.733A>C
n.700A>C
19g.11105489A>GCA404077551LDLRc.841A>G (p.Ser281Gly)
c.583A>G (p.Ser195Gly)
c.837A>G
c.314-1903A>G (n.314-1903A>G)
c.460A>G (p.Ser154Gly)
c.314-1076A>G (n.314-1076A>G)
c.183A>G
n.733A>G
n.700A>G
19g.11105489A>TCA404077552LDLRc.841A>T (p.Ser281Cys)
c.583A>T (p.Ser195Cys)
c.837A>T
c.314-1903A>T (n.314-1903A>T)
c.460A>T (p.Ser154Cys)
c.314-1076A>T (n.314-1076A>T)
c.183A>T
n.733A>T
n.700A>T
19g.11105490G>ACA10584998LDLRc.842G>A (p.Ser281Asn)
c.584G>A (p.Ser195Asn)
c.838G>A
c.314-1902G>A (n.314-1902G>A)
c.461G>A (p.Ser154Asn)
c.314-1075G>A (n.314-1075G>A)
c.184G>A
n.734G>A
n.701G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11105490G>CCA404077559LDLRc.842G>C (p.Ser281Thr)
c.584G>C (p.Ser195Thr)
c.838G>C
c.314-1902G>C (n.314-1902G>C)
c.461G>C (p.Ser154Thr)
c.314-1075G>C (n.314-1075G>C)
c.184G>C
n.734G>C
n.701G>C
19g.11105490G=CA2322767513LDLRc.842G= (p.Ser281=)
c.584G= (p.Ser195=)
c.838G=
c.314-1902G= (n.314-1902G=)
c.461G= (p.Ser154=)
c.314-1075G= (n.314-1075G=)
c.184G=
n.734G=
n.701G=
19g.11105490G>TCA404077563LDLRc.842G>T (p.Ser281Ile)
c.584G>T (p.Ser195Ile)
c.838G>T
c.314-1902G>T (n.314-1902G>T)
c.461G>T (p.Ser154Ile)
c.314-1075G>T (n.314-1075G>T)
c.184G>T
n.734G>T
n.701G>T
19g.11105491C>ACA10583775LDLRc.843C>A (p.Ser281Arg)
c.585C>A (p.Ser195Arg)
c.839C>A
c.314-1901C>A (n.314-1901C>A)
c.462C>A (p.Ser154Arg)
c.314-1074C>A (n.314-1074C>A)
c.185C>A
n.735C>A
n.702C>A
 ClinVar dbSNP
19g.11105491C=CA2322767514LDLRc.843C= (p.Ser281=)
c.585C= (p.Ser195=)
c.839C=
c.314-1901C= (n.314-1901C=)
c.462C= (p.Ser154=)
c.314-1074C= (n.314-1074C=)
c.185C=
n.735C=
n.702C=
19g.11105491C>GCA404077564LDLRc.843C>G (p.Ser281Arg)
c.585C>G (p.Ser195Arg)
c.839C>G
c.314-1901C>G (n.314-1901C>G)
c.462C>G (p.Ser154Arg)
c.314-1074C>G (n.314-1074C>G)
c.185C>G
n.735C>G
n.702C>G
19g.11105491C>TCA044003LDLRc.843C>T (p.Ser281=)
c.585C>T (p.Ser195=)
c.839C>T
c.314-1901C>T (n.314-1901C>T)
c.462C>T (p.Ser154=)
c.314-1074C>T (n.314-1074C>T)
c.185C>T
n.735C>T
n.702C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105492C>ACA305296886LDLRc.844C>A (p.Pro282Thr)
c.586C>A (p.Pro196Thr)
c.840C>A
c.314-1900C>A (n.314-1900C>A)
c.463C>A (p.Pro155Thr)
c.314-1073C>A (n.314-1073C>A)
c.186C>A
n.736C>A
n.703C>A
 ClinVar dbSNP
19g.11105492C=CA2322767515LDLRc.844C= (p.Pro282=)
c.586C= (p.Pro196=)
c.840C=
c.314-1900C= (n.314-1900C=)
c.463C= (p.Pro155=)
c.314-1073C= (n.314-1073C=)
c.186C=
n.736C=
n.703C=
19g.11105492C>GCA404077567LDLRc.844C>G (p.Pro282Ala)
c.586C>G (p.Pro196Ala)
c.840C>G
c.314-1900C>G (n.314-1900C>G)
c.463C>G (p.Pro155Ala)
c.314-1073C>G (n.314-1073C>G)
c.186C>G
n.736C>G
n.703C>G
 dbSNP
19g.11105492C>TCA404077568LDLRc.844C>T (p.Pro282Ser)
c.586C>T (p.Pro196Ser)
c.840C>T
c.314-1900C>T (n.314-1900C>T)
c.463C>T (p.Pro155Ser)
c.314-1073C>T (n.314-1073C>T)
c.186C>T
n.736C>T
n.703C>T
 gnomAD v4 COSMIC
19g.11105492_11105530delCA2573050576LDLRc.844_882del (p.Pro282_Glu294del)
c.586_624del (p.Pro196_Glu208del)
c.840_878del
c.314-1900_314-1862del (n.314-1900_314-1862del)
c.463_501del (p.Pro155_Glu167del)
c.314-1073_314-1035del (n.314-1073_314-1035del)
c.186_224del
n.736_774del
n.703_741del
19g.11105493C>ACA044008LDLRc.845C>A (p.Pro282His)
c.587C>A (p.Pro196His)
c.841C>A
c.314-1899C>A (n.314-1899C>A)
c.464C>A (p.Pro155His)
c.314-1072C>A (n.314-1072C>A)
c.187C>A
n.737C>A
n.704C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105493C=CA2322767516LDLRc.845C= (p.Pro282=)
c.587C= (p.Pro196=)
c.841C=
c.314-1899C= (n.314-1899C=)
c.464C= (p.Pro155=)
c.314-1072C= (n.314-1072C=)
c.187C=
n.737C=
n.704C=
19g.11105493C>GCA404077573LDLRc.845C>G (p.Pro282Arg)
c.587C>G (p.Pro196Arg)
c.841C>G
c.314-1899C>G (n.314-1899C>G)
c.464C>G (p.Pro155Arg)
c.314-1072C>G (n.314-1072C>G)
c.187C>G
n.737C>G
n.704C>G
19g.11105493C>TCA404077570LDLRc.845C>T (p.Pro282Leu)
c.587C>T (p.Pro196Leu)
c.841C>T
c.314-1899C>T (n.314-1899C>T)
c.464C>T (p.Pro155Leu)
c.314-1072C>T (n.314-1072C>T)
c.187C>T
n.737C>T
n.704C>T
 COSMIC
19g.11105494C>ACA044017LDLRc.846C>A (p.Pro282=)
c.588C>A (p.Pro196=)
c.842C>A
c.314-1898C>A (n.314-1898C>A)
c.465C>A (p.Pro155=)
c.314-1071C>A (n.314-1071C>A)
c.188C>A
n.738C>A
n.705C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105494C=CA2322767517LDLRc.846C= (p.Pro282=)
c.588C= (p.Pro196=)
c.842C=
c.314-1898C= (n.314-1898C=)
c.465C= (p.Pro155=)
c.314-1071C= (n.314-1071C=)
c.188C=
n.738C=
n.705C=
19g.11105494C>GCA505743426LDLRc.846C>G (p.Pro282=)
c.588C>G (p.Pro196=)
c.842C>G
c.314-1898C>G (n.314-1898C>G)
c.465C>G (p.Pro155=)
c.314-1071C>G (n.314-1071C>G)
c.188C>G
n.738C>G
n.705C>G
19g.11105494C>TCA505743427LDLRc.846C>T (p.Pro282=)
c.588C>T (p.Pro196=)
c.842C>T
c.314-1898C>T (n.314-1898C>T)
c.465C>T (p.Pro155=)
c.314-1071C>T (n.314-1071C>T)
c.188C>T
n.738C>T
n.705C>T
 gnomAD v4
19g.11105495T>ACA404077584LDLRc.847T>A (p.Cys283Ser)
c.589T>A (p.Cys197Ser)
c.843T>A
c.314-1897T>A (n.314-1897T>A)
c.466T>A (p.Cys156Ser)
c.314-1070T>A (n.314-1070T>A)
c.189T>A
n.739T>A
n.706T>A
19g.11105495T>CCA023725LDLRc.847T>C (p.Cys283Arg)
c.589T>C (p.Cys197Arg)
c.843T>C
c.314-1897T>C (n.314-1897T>C)
c.466T>C (p.Cys156Arg)
c.314-1070T>C (n.314-1070T>C)
c.189T>C
n.739T>C
n.706T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105495T>GCA10584999LDLRc.847T>G (p.Cys283Gly)
c.589T>G (p.Cys197Gly)
c.843T>G
c.314-1897T>G (n.314-1897T>G)
c.466T>G (p.Cys156Gly)
c.314-1070T>G (n.314-1070T>G)
c.189T>G
n.739T>G
n.706T>G
 ClinVar dbSNP
19g.11105495T=CA2322767518LDLRc.847T= (p.Cys283=)
c.589T= (p.Cys197=)
c.843T=
c.314-1897T= (n.314-1897T=)
c.466T= (p.Cys156=)
c.314-1070T= (n.314-1070T=)
c.189T=
n.739T=
n.706T=
19g.11105496G>ACA023730LDLRc.848G>A (p.Cys283Tyr)
c.590G>A (p.Cys197Tyr)
c.844G>A
c.314-1896G>A (n.314-1896G>A)
c.467G>A (p.Cys156Tyr)
c.314-1069G>A (n.314-1069G>A)
c.190G>A
n.740G>A
n.707G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11105496G>CCA404077589LDLRc.848G>C (p.Cys283Ser)
c.590G>C (p.Cys197Ser)
c.844G>C
c.314-1896G>C (n.314-1896G>C)
c.467G>C (p.Cys156Ser)
c.314-1069G>C (n.314-1069G>C)
c.190G>C
n.740G>C
n.707G>C
19g.11105496G=CA2322767519LDLRc.848G= (p.Cys283=)
c.590G= (p.Cys197=)
c.844G=
c.314-1896G= (n.314-1896G=)
c.467G= (p.Cys156=)
c.314-1069G= (n.314-1069G=)
c.190G=
n.740G=
n.707G=
19g.11105496G>TCA044039LDLRc.848G>T (p.Cys283Phe)
c.590G>T (p.Cys197Phe)
c.844G>T
c.314-1896G>T (n.314-1896G>T)
c.467G>T (p.Cys156Phe)
c.314-1069G>T (n.314-1069G>T)
c.190G>T
n.740G>T
n.707G>T
 ClinVar dbSNP ExAC gnomAD v2
19g.11105497C>ACA10585000LDLRc.849C>A (p.Cys283Ter)
c.591C>A (p.Cys197Ter)
c.845C>A
c.314-1895C>A (n.314-1895C>A)
c.468C>A (p.Cys156Ter)
c.314-1068C>A (n.314-1068C>A)
c.191C>A
n.741C>A
n.708C>A
 ClinVar dbSNP
19g.11105497C=CA2322767520LDLRc.849C= (p.Cys283=)
c.591C= (p.Cys197=)
c.845C=
c.314-1895C= (n.314-1895C=)
c.468C= (p.Cys156=)
c.314-1068C= (n.314-1068C=)
c.191C=
n.741C=
n.708C=
19g.11105497C>GCA10585001LDLRc.849C>G (p.Cys283Trp)
c.591C>G (p.Cys197Trp)
c.845C>G
c.314-1895C>G (n.314-1895C>G)
c.468C>G (p.Cys156Trp)
c.314-1068C>G (n.314-1068C>G)
c.191C>G
n.741C>G
n.708C>G
 ClinVar dbSNP gnomAD v4
19g.11105497C>TCA505743432LDLRc.849C>T (p.Cys283=)
c.591C>T (p.Cys197=)
c.845C>T
c.314-1895C>T (n.314-1895C>T)
c.468C>T (p.Cys156=)
c.314-1068C>T (n.314-1068C>T)
c.191C>T
n.741C>T
n.708C>T
 dbSNP gnomAD v4
19g.11105498T>ACA404077600LDLRc.850T>A (p.Ser284Thr)
c.592T>A (p.Ser198Thr)
c.846T>A
c.314-1894T>A (n.314-1894T>A)
c.469T>A (p.Ser157Thr)
c.314-1067T>A (n.314-1067T>A)
c.192T>A
n.742T>A
n.709T>A
19g.11105498T>CCA404077606LDLRc.850T>C (p.Ser284Pro)
c.592T>C (p.Ser198Pro)
c.846T>C
c.314-1894T>C (n.314-1894T>C)
c.469T>C (p.Ser157Pro)
c.314-1067T>C (n.314-1067T>C)
c.192T>C
n.742T>C
n.709T>C
19g.11105498T>GCA404077603LDLRc.850T>G (p.Ser284Ala)
c.592T>G (p.Ser198Ala)
c.846T>G
c.314-1894T>G (n.314-1894T>G)
c.469T>G (p.Ser157Ala)
c.314-1067T>G (n.314-1067T>G)
c.192T>G
n.742T>G
n.709T>G
19g.11105499C>ACA10585002LDLRc.851C>A (p.Ser284Ter)
c.593C>A (p.Ser198Ter)
c.847C>A
c.314-1893C>A (n.314-1893C>A)
c.470C>A (p.Ser157Ter)
c.314-1066C>A (n.314-1066C>A)
c.193C>A
n.743C>A
n.710C>A
 ClinVar dbSNP
19g.11105499C=CA2322767521LDLRc.851C= (p.Ser284=)
c.593C= (p.Ser198=)
c.847C=
c.314-1893C= (n.314-1893C=)
c.470C= (p.Ser157=)
c.314-1066C= (n.314-1066C=)
c.193C=
n.743C=
n.710C=
19g.11105499C>GCA044059LDLRc.851C>G (p.Ser284Trp)
c.593C>G (p.Ser198Trp)
c.847C>G
c.314-1893C>G (n.314-1893C>G)
c.470C>G (p.Ser157Trp)
c.314-1066C>G (n.314-1066C>G)
c.193C>G
n.743C>G
n.710C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105499C>TCA044071LDLRc.851C>T (p.Ser284Leu)
c.593C>T (p.Ser198Leu)
c.847C>T
c.314-1893C>T (n.314-1893C>T)
c.470C>T (p.Ser157Leu)
c.314-1066C>T (n.314-1066C>T)
c.193C>T
n.743C>T
n.710C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.11105500G>ACA505743437LDLRc.852G>A (p.Ser284=)
c.594G>A (p.Ser198=)
c.848G>A
c.314-1892G>A (n.314-1892G>A)
c.471G>A (p.Ser157=)
c.314-1065G>A (n.314-1065G>A)
c.194G>A
n.744G>A
n.711G>A
 ClinVar dbSNP gnomAD v4
19g.11105500G>CCA044083LDLRc.852G>C (p.Ser284=)
c.594G>C (p.Ser198=)
c.848G>C
c.314-1892G>C (n.314-1892G>C)
c.471G>C (p.Ser157=)
c.314-1065G>C (n.314-1065G>C)
c.194G>C
n.744G>C
n.711G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105500G=CA2322767522LDLRc.852G= (p.Ser284=)
c.594G= (p.Ser198=)
c.848G=
c.314-1892G= (n.314-1892G=)
c.471G= (p.Ser157=)
c.314-1065G= (n.314-1065G=)
c.194G=
n.744G=
n.711G=
19g.11105500G>TCA505743438LDLRc.852G>T (p.Ser284=)
c.594G>T (p.Ser198=)
c.848G>T
c.314-1892G>T (n.314-1892G>T)
c.471G>T (p.Ser157=)
c.314-1065G>T (n.314-1065G>T)
c.194G>T
n.744G>T
n.711G>T
19g.11105501G>ACA404077624LDLRc.853G>A (p.Ala285Thr)
c.595G>A (p.Ala199Thr)
c.849G>A
c.314-1891G>A (n.314-1891G>A)
c.472G>A (p.Ala158Thr)
c.314-1064G>A (n.314-1064G>A)
c.195G>A
n.745G>A
n.712G>A
 dbSNP gnomAD v2 gnomAD v4
19g.11105501G>CCA404077630LDLRc.853G>C (p.Ala285Pro)
c.595G>C (p.Ala199Pro)
c.849G>C
c.314-1891G>C (n.314-1891G>C)
c.472G>C (p.Ala158Pro)
c.314-1064G>C (n.314-1064G>C)
c.195G>C
n.745G>C
n.712G>C
19g.11105501G=CA2322767523LDLRc.853G= (p.Ala285=)
c.595G= (p.Ala199=)
c.849G=
c.314-1891G= (n.314-1891G=)
c.472G= (p.Ala158=)
c.314-1064G= (n.314-1064G=)
c.195G=
n.745G=
n.712G=
19g.11105501G>TCA404077627LDLRc.853G>T (p.Ala285Ser)
c.595G>T (p.Ala199Ser)
c.849G>T
c.314-1891G>T (n.314-1891G>T)
c.472G>T (p.Ala158Ser)
c.314-1064G>T (n.314-1064G>T)
c.195G>T
n.745G>T
n.712G>T
19g.11105502C>ACA404077634LDLRc.854C>A (p.Ala285Asp)
c.596C>A (p.Ala199Asp)
c.850C>A
c.314-1890C>A (n.314-1890C>A)
c.473C>A (p.Ala158Asp)
c.314-1063C>A (n.314-1063C>A)
c.196C>A
n.746C>A
n.713C>A
19g.11105502C>GCA404077638LDLRc.854C>G (p.Ala285Gly)
c.596C>G (p.Ala199Gly)
c.850C>G
c.314-1890C>G (n.314-1890C>G)
c.473C>G (p.Ala158Gly)
c.314-1063C>G (n.314-1063C>G)
c.196C>G
n.746C>G
n.713C>G
19g.11105502C>TCA404077641LDLRc.854C>T (p.Ala285Val)
c.596C>T (p.Ala199Val)
c.850C>T
c.314-1890C>T (n.314-1890C>T)
c.473C>T (p.Ala158Val)
c.314-1063C>T (n.314-1063C>T)
c.196C>T
n.746C>T
n.713C>T
19g.11105503C>ACA505743442LDLRc.855C>A (p.Ala285=)
c.597C>A (p.Ala199=)
c.851C>A
c.314-1889C>A (n.314-1889C>A)
c.474C>A (p.Ala158=)
c.314-1062C>A (n.314-1062C>A)
c.197C>A
n.747C>A
n.714C>A
19g.11105503C=CA2322767524LDLRc.855C= (p.Ala285=)
c.597C= (p.Ala199=)
c.851C=
c.314-1889C= (n.314-1889C=)
c.474C= (p.Ala158=)
c.314-1062C= (n.314-1062C=)
c.197C=
n.747C=
n.714C=
19g.11105503C>GCA505743443LDLRc.855C>G (p.Ala285=)
c.597C>G (p.Ala199=)
c.851C>G
c.314-1889C>G (n.314-1889C>G)
c.474C>G (p.Ala158=)
c.314-1062C>G (n.314-1062C>G)
c.197C>G
n.747C>G
n.714C>G
19g.11105503C>TCA044100LDLRc.855C>T (p.Ala285=)
c.597C>T (p.Ala199=)
c.851C>T
c.314-1889C>T (n.314-1889C>T)
c.474C>T (p.Ala158=)
c.314-1062C>T (n.314-1062C>T)
c.197C>T
n.747C>T
n.714C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105504T>ACA10585003LDLRc.856T>A (p.Phe286Ile)
c.598T>A (p.Phe200Ile)
c.852T>A
c.314-1888T>A (n.314-1888T>A)
c.475T>A (p.Phe159Ile)
c.314-1061T>A (n.314-1061T>A)
c.198T>A
n.748T>A
n.715T>A
 ClinVar dbSNP
19g.11105504T>CCA404077651LDLRc.856T>C (p.Phe286Leu)
c.598T>C (p.Phe200Leu)
c.852T>C
c.314-1888T>C (n.314-1888T>C)
c.475T>C (p.Phe159Leu)
c.314-1061T>C (n.314-1061T>C)
c.198T>C
n.748T>C
n.715T>C
 dbSNP gnomAD v3 gnomAD v4
19g.11105504T>GCA404077655LDLRc.856T>G (p.Phe286Val)
c.598T>G (p.Phe200Val)
c.852T>G
c.314-1888T>G (n.314-1888T>G)
c.475T>G (p.Phe159Val)
c.314-1061T>G (n.314-1061T>G)
c.198T>G
n.748T>G
n.715T>G
19g.11105504T=CA2322767525LDLRc.856T= (p.Phe286=)
c.598T= (p.Phe200=)
c.852T=
c.314-1888T= (n.314-1888T=)
c.475T= (p.Phe159=)
c.314-1061T= (n.314-1061T=)
c.198T=
n.748T=
n.715T=
19g.11105505T>ACA404077660LDLRc.857T>A (p.Phe286Tyr)
c.599T>A (p.Phe200Tyr)
c.853T>A
c.314-1887T>A (n.314-1887T>A)
c.476T>A (p.Phe159Tyr)
c.314-1060T>A (n.314-1060T>A)
c.199T>A
n.749T>A
n.716T>A
19g.11105505T>CCA404077663LDLRc.857T>C (p.Phe286Ser)
c.599T>C (p.Phe200Ser)
c.853T>C
c.314-1887T>C (n.314-1887T>C)
c.476T>C (p.Phe159Ser)
c.314-1060T>C (n.314-1060T>C)
c.199T>C
n.749T>C
n.716T>C
19g.11105505T>GCA10585004LDLRc.857T>G (p.Phe286Cys)
c.599T>G (p.Phe200Cys)
c.853T>G
c.314-1887T>G (n.314-1887T>G)
c.476T>G (p.Phe159Cys)
c.314-1060T>G (n.314-1060T>G)
c.199T>G
n.749T>G
n.716T>G
 ClinVar dbSNP
19g.11105505T=CA2322767526LDLRc.857T= (p.Phe286=)
c.599T= (p.Phe200=)
c.853T=
c.314-1887T= (n.314-1887T=)
c.476T= (p.Phe159=)
c.314-1060T= (n.314-1060T=)
c.199T=
n.749T=
n.716T=
19g.11105505_11105506delinsTCCA2322767527LDLRc.857_858delinsTC (p.Phe286=)
c.599_600delinsTC (p.Phe200=)
c.853_854delinsTC
c.314-1887_314-1886delinsTC (n.314-1887_314-1886delinsTC)
c.476_477delinsTC (p.Phe159=)
c.314-1060_314-1059delinsTC (n.314-1060_314-1059delinsTC)
c.199_200delinsTC
n.749_750delinsTC
n.716_717delinsTC
19g.11105506delCA10585006LDLRc.858del (p.Phe286LeufsTer6)
c.600del (p.Phe200LeufsTer6)
c.854del
c.314-1886del (n.314-1886del)
c.477del (p.Phe159LeufsTer6)
c.314-1059del (n.314-1059del)
c.200del
n.750del
n.717del
 ClinVar dbSNP
19g.11105506C>ACA10585005LDLRc.858C>A (p.Phe286Leu)
c.600C>A (p.Phe200Leu)
c.854C>A
c.314-1886C>A (n.314-1886C>A)
c.477C>A (p.Phe159Leu)
c.314-1059C>A (n.314-1059C>A)
c.200C>A
n.750C>A
n.717C>A
 ClinVar dbSNP
19g.11105506C=CA2322767528LDLRc.858C= (p.Phe286=)
c.600C= (p.Phe200=)
c.854C=
c.314-1886C= (n.314-1886C=)
c.477C= (p.Phe159=)
c.314-1059C= (n.314-1059C=)
c.200C=
n.750C=
n.717C=
19g.11105506C>GCA404077681LDLRc.858C>G (p.Phe286Leu)
c.600C>G (p.Phe200Leu)
c.854C>G
c.314-1886C>G (n.314-1886C>G)
c.477C>G (p.Phe159Leu)
c.314-1059C>G (n.314-1059C>G)
c.200C>G
n.750C>G
n.717C>G
 gnomAD v4
19g.11105506C>TCA505743447LDLRc.858C>T (p.Phe286=)
c.600C>T (p.Phe200=)
c.854C>T
c.314-1886C>T (n.314-1886C>T)
c.477C>T (p.Phe159=)
c.314-1059C>T (n.314-1059C>T)
c.200C>T
n.750C>T
n.717C>T
 ClinVar gnomAD v4
19g.11105506dupCA505743448LDLRc.858dup (p.Glu287ArgfsTer17)
c.600dup (p.Glu201ArgfsTer17)
c.854dup
c.314-1886dup (n.314-1886dup)
c.477dup (p.Glu160ArgfsTer17)
c.314-1059dup (n.314-1059dup)
c.200dup
n.750dup
n.717dup
 ClinVar COSMIC
19g.11105507G>ACA10585007LDLRc.859G>A (p.Glu287Lys)
c.601G>A (p.Glu201Lys)
c.855G>A
c.314-1885G>A (n.314-1885G>A)
c.478G>A (p.Glu160Lys)
c.314-1058G>A (n.314-1058G>A)
c.201G>A
n.751G>A
n.718G>A
 ClinVar dbSNP COSMIC
19g.11105507G>CCA404077691LDLRc.859G>C (p.Glu287Gln)
c.601G>C (p.Glu201Gln)
c.855G>C
c.314-1885G>C (n.314-1885G>C)
c.478G>C (p.Glu160Gln)
c.314-1058G>C (n.314-1058G>C)
c.201G>C
n.751G>C
n.718G>C
 ClinVar
19g.11105507G=CA2322767529LDLRc.859G= (p.Glu287=)
c.601G= (p.Glu201=)
c.855G=
c.314-1885G= (n.314-1885G=)
c.478G= (p.Glu160=)
c.314-1058G= (n.314-1058G=)
c.201G=
n.751G=
n.718G=
19g.11105507G>TCA404077696LDLRc.859G>T (p.Glu287Ter)
c.601G>T (p.Glu201Ter)
c.855G>T
c.314-1885G>T (n.314-1885G>T)
c.478G>T (p.Glu160Ter)
c.314-1058G>T (n.314-1058G>T)
c.201G>T
n.751G>T
n.718G>T
19g.11105508A=CA2322767530LDLRc.860A= (p.Glu287=)
c.602A= (p.Glu201=)
c.856A=
c.314-1884A= (n.314-1884A=)
c.479A= (p.Glu160=)
c.314-1057A= (n.314-1057A=)
c.202A=
n.752A=
n.719A=
19g.11105508A>CCA404077700LDLRc.860A>C (p.Glu287Ala)
c.602A>C (p.Glu201Ala)
c.856A>C
c.314-1884A>C (n.314-1884A>C)
c.479A>C (p.Glu160Ala)
c.314-1057A>C (n.314-1057A>C)
c.202A>C
n.752A>C
n.719A>C
 ClinVar dbSNP
19g.11105508A>GCA044113LDLRc.860A>G (p.Glu287Gly)
c.602A>G (p.Glu201Gly)
c.856A>G
c.314-1884A>G (n.314-1884A>G)
c.479A>G (p.Glu160Gly)
c.314-1057A>G (n.314-1057A>G)
c.202A>G
n.752A>G
n.719A>G
 dbSNP ExAC gnomAD v2
19g.11105508A>TCA404077707LDLRc.860A>T (p.Glu287Val)
c.602A>T (p.Glu201Val)
c.856A>T
c.314-1884A>T (n.314-1884A>T)
c.479A>T (p.Glu160Val)
c.314-1057A>T (n.314-1057A>T)
c.202A>T
n.752A>T
n.719A>T
19g.11105509G>ACA505743450LDLRc.861G>A (p.Glu287=)
c.603G>A (p.Glu201=)
c.857G>A
c.314-1883G>A (n.314-1883G>A)
c.480G>A (p.Glu160=)
c.314-1056G>A (n.314-1056G>A)
c.203G>A
n.753G>A
n.720G>A
 ClinVar gnomAD v4
19g.11105509G>CCA404077710LDLRc.861G>C (p.Glu287Asp)
c.603G>C (p.Glu201Asp)
c.857G>C
c.314-1883G>C (n.314-1883G>C)
c.480G>C (p.Glu160Asp)
c.314-1056G>C (n.314-1056G>C)
c.203G>C
n.753G>C
n.720G>C
19g.11105509G>TCA404077724LDLRc.861G>T (p.Glu287Asp)
c.603G>T (p.Glu201Asp)
c.857G>T
c.314-1883G>T (n.314-1883G>T)
c.480G>T (p.Glu160Asp)
c.314-1056G>T (n.314-1056G>T)
c.203G>T
n.753G>T
n.720G>T
19g.11105510T>ACA404077732LDLRc.862T>A (p.Phe288Ile)
c.604T>A (p.Phe202Ile)
c.858T>A
c.314-1882T>A (n.314-1882T>A)
c.481T>A (p.Phe161Ile)
c.314-1055T>A (n.314-1055T>A)
c.204T>A
n.754T>A
n.721T>A
19g.11105510T>CCA404077734LDLRc.862T>C (p.Phe288Leu)
c.604T>C (p.Phe202Leu)
c.858T>C
c.314-1882T>C (n.314-1882T>C)
c.481T>C (p.Phe161Leu)
c.314-1055T>C (n.314-1055T>C)
c.204T>C
n.754T>C
n.721T>C
19g.11105510T>GCA404077739LDLRc.862T>G (p.Phe288Val)
c.604T>G (p.Phe202Val)
c.858T>G
c.314-1882T>G (n.314-1882T>G)
c.481T>G (p.Phe161Val)
c.314-1055T>G (n.314-1055T>G)
c.204T>G
n.754T>G
n.721T>G
19g.11105511T>ACA404077742LDLRc.863T>A (p.Phe288Tyr)
c.605T>A (p.Phe202Tyr)
c.859T>A
c.314-1881T>A (n.314-1881T>A)
c.482T>A (p.Phe161Tyr)
c.314-1054T>A (n.314-1054T>A)
c.205T>A
n.755T>A
n.722T>A
19g.11105511T>CCA10585008LDLRc.863T>C (p.Phe288Ser)
c.605T>C (p.Phe202Ser)
c.859T>C
c.314-1881T>C (n.314-1881T>C)
c.482T>C (p.Phe161Ser)
c.314-1054T>C (n.314-1054T>C)
c.205T>C
n.755T>C
n.722T>C
 ClinVar dbSNP gnomAD v4
19g.11105511T>GCA404077750LDLRc.863T>G (p.Phe288Cys)
c.605T>G (p.Phe202Cys)
c.859T>G
c.314-1881T>G (n.314-1881T>G)
c.482T>G (p.Phe161Cys)
c.314-1054T>G (n.314-1054T>G)
c.205T>G
n.755T>G
n.722T>G
 ClinVar dbSNP
19g.11105511T=CA2322767531LDLRc.863T= (p.Phe288=)
c.605T= (p.Phe202=)
c.859T=
c.314-1881T= (n.314-1881T=)
c.482T= (p.Phe161=)
c.314-1054T= (n.314-1054T=)
c.205T=
n.755T=
n.722T=
19g.11105512C>ACA404077755LDLRc.864C>A (p.Phe288Leu)
c.606C>A (p.Phe202Leu)
c.860C>A
c.314-1880C>A (n.314-1880C>A)
c.483C>A (p.Phe161Leu)
c.314-1053C>A (n.314-1053C>A)
c.206C>A
n.756C>A
n.723C>A
19g.11105512C>GCA404077758LDLRc.864C>G (p.Phe288Leu)
c.606C>G (p.Phe202Leu)
c.860C>G
c.314-1880C>G (n.314-1880C>G)
c.483C>G (p.Phe161Leu)
c.314-1053C>G (n.314-1053C>G)
c.206C>G
n.756C>G
n.723C>G
19g.11105512C>TCA505743451LDLRc.864C>T (p.Phe288=)
c.606C>T (p.Phe202=)
c.860C>T
c.314-1880C>T (n.314-1880C>T)
c.483C>T (p.Phe161=)
c.314-1053C>T (n.314-1053C>T)
c.206C>T
n.756C>T
n.723C>T
19g.11105513delCA2573155702LDLRc.865del (p.His289ThrfsTer3)
c.607del (p.His203ThrfsTer3)
c.861del
c.314-1879del (n.314-1879del)
c.484del (p.His162ThrfsTer3)
c.314-1052del (n.314-1052del)
c.207del
n.757del
n.724del
 ClinVar dbSNP
19g.11105513C>ACA404077763LDLRc.865C>A (p.His289Asn)
c.607C>A (p.His203Asn)
c.861C>A
c.314-1879C>A (n.314-1879C>A)
c.484C>A (p.His162Asn)
c.314-1052C>A (n.314-1052C>A)
c.207C>A
n.757C>A
n.724C>A
19g.11105513C=CA2322767532LDLRc.865C= (p.His289=)
c.607C= (p.His203=)
c.861C=
c.314-1879C= (n.314-1879C=)
c.484C= (p.His162=)
c.314-1052C= (n.314-1052C=)
c.207C=
n.757C=
n.724C=
19g.11105513C>GCA404077769LDLRc.865C>G (p.His289Asp)
c.607C>G (p.His203Asp)
c.861C>G
c.314-1879C>G (n.314-1879C>G)
c.484C>G (p.His162Asp)
c.314-1052C>G (n.314-1052C>G)
c.207C>G
n.757C>G
n.724C>G
19g.11105513C>TCA404077772LDLRc.865C>T (p.His289Tyr)
c.607C>T (p.His203Tyr)
c.861C>T
c.314-1879C>T (n.314-1879C>T)
c.484C>T (p.His162Tyr)
c.314-1052C>T (n.314-1052C>T)
c.207C>T
n.757C>T
n.724C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11105514A=CA2322767533LDLRc.866A= (p.His289=)
c.608A= (p.His203=)
c.862A=
c.314-1878A= (n.314-1878A=)
c.485A= (p.His162=)
c.314-1051A= (n.314-1051A=)
c.208A=
n.758A=
n.725A=
19g.11105514A>CCA404077780LDLRc.866A>C (p.His289Pro)
c.608A>C (p.His203Pro)
c.862A>C
c.314-1878A>C (n.314-1878A>C)
c.485A>C (p.His162Pro)
c.314-1051A>C (n.314-1051A>C)
c.208A>C
n.758A>C
n.725A>C
19g.11105514A>GCA044122LDLRc.866A>G (p.His289Arg)
c.608A>G (p.His203Arg)
c.862A>G
c.314-1878A>G (n.314-1878A>G)
c.485A>G (p.His162Arg)
c.314-1051A>G (n.314-1051A>G)
c.208A>G
n.758A>G
n.725A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105514A>TCA404077786LDLRc.866A>T (p.His289Leu)
c.608A>T (p.His203Leu)
c.862A>T
c.314-1878A>T (n.314-1878A>T)
c.485A>T (p.His162Leu)
c.314-1051A>T (n.314-1051A>T)
c.208A>T
n.758A>T
n.725A>T
19g.11105514_11105515delinsACCA2322767534LDLRc.866_867delinsAC (p.His289=)
c.608_609delinsAC (p.His203=)
c.862_863delinsAC
c.314-1878_314-1877delinsAC (n.314-1878_314-1877delinsAC)
c.485_486delinsAC (p.His162=)
c.314-1051_314-1050delinsAC (n.314-1051_314-1050delinsAC)
c.208_209delinsAC
n.758_759delinsAC
n.725_726delinsAC
19g.11105515delCA10585009LDLRc.867del (p.Cys290AlafsTer2)
c.609del (p.Cys204AlafsTer2)
c.863del
c.314-1877del (n.314-1877del)
c.486del (p.Cys163AlafsTer2)
c.314-1050del (n.314-1050del)
c.209del
n.759del
n.726del
 ClinVar dbSNP
19g.11105515C>ACA404077792LDLRc.867C>A (p.His289Gln)
c.609C>A (p.His203Gln)
c.863C>A
c.314-1877C>A (n.314-1877C>A)
c.486C>A (p.His162Gln)
c.314-1050C>A (n.314-1050C>A)
c.209C>A
n.759C>A
n.726C>A
19g.11105515C>GCA404077795LDLRc.867C>G (p.His289Gln)
c.609C>G (p.His203Gln)
c.863C>G
c.314-1877C>G (n.314-1877C>G)
c.486C>G (p.His162Gln)
c.314-1050C>G (n.314-1050C>G)
c.209C>G
n.759C>G
n.726C>G
19g.11105515C>TCA505743453LDLRc.867C>T (p.His289=)
c.609C>T (p.His203=)
c.863C>T
c.314-1877C>T (n.314-1877C>T)
c.486C>T (p.His162=)
c.314-1050C>T (n.314-1050C>T)
c.209C>T
n.759C>T
n.726C>T
19g.11105516T>ACA404077803LDLRc.868T>A (p.Cys290Ser)
c.610T>A (p.Cys204Ser)
c.864T>A
c.314-1876T>A (n.314-1876T>A)
c.487T>A (p.Cys163Ser)
c.314-1049T>A (n.314-1049T>A)
c.210T>A
n.760T>A
n.727T>A
19g.11105516T>CCA404077804LDLRc.868T>C (p.Cys290Arg)
c.610T>C (p.Cys204Arg)
c.864T>C
c.314-1876T>C (n.314-1876T>C)
c.487T>C (p.Cys163Arg)
c.314-1049T>C (n.314-1049T>C)
c.210T>C
n.760T>C
n.727T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105516T>GCA16602302LDLRc.868T>G (p.Cys290Gly)
c.610T>G (p.Cys204Gly)
c.864T>G
c.314-1876T>G (n.314-1876T>G)
c.487T>G (p.Cys163Gly)
c.314-1049T>G (n.314-1049T>G)
c.210T>G
n.760T>G
n.727T>G
 ClinVar dbSNP
19g.11105516T=CA2322767535LDLRc.868T= (p.Cys290=)
c.610T= (p.Cys204=)
c.864T=
c.314-1876T= (n.314-1876T=)
c.487T= (p.Cys163=)
c.314-1049T= (n.314-1049T=)
c.210T=
n.760T=
n.727T=
19g.11105517G>ACA10585010LDLRc.869G>A (p.Cys290Tyr)
c.611G>A (p.Cys204Tyr)
c.865G>A
c.314-1875G>A (n.314-1875G>A)
c.488G>A (p.Cys163Tyr)
c.314-1048G>A (n.314-1048G>A)
c.211G>A
n.761G>A
n.728G>A
 ClinVar dbSNP
19g.11105517G>CCA10585011LDLRc.869G>C (p.Cys290Ser)
c.611G>C (p.Cys204Ser)
c.865G>C
c.314-1875G>C (n.314-1875G>C)
c.488G>C (p.Cys163Ser)
c.314-1048G>C (n.314-1048G>C)
c.211G>C
n.761G>C
n.728G>C
 ClinVar dbSNP
19g.11105517G=CA2322767536LDLRc.869G= (p.Cys290=)
c.611G= (p.Cys204=)
c.865G=
c.314-1875G= (n.314-1875G=)
c.488G= (p.Cys163=)
c.314-1048G= (n.314-1048G=)
c.211G=
n.761G=
n.728G=
19g.11105517G>TCA10585012LDLRc.869G>T (p.Cys290Phe)
c.611G>T (p.Cys204Phe)
c.865G>T
c.314-1875G>T (n.314-1875G>T)
c.488G>T (p.Cys163Phe)
c.314-1048G>T (n.314-1048G>T)
c.211G>T
n.761G>T
n.728G>T
 ClinVar dbSNP
19g.11105518C>ACA404077821LDLRc.870C>A (p.Cys290Ter)
c.612C>A (p.Cys204Ter)
c.866C>A
c.314-1874C>A (n.314-1874C>A)
c.489C>A (p.Cys163Ter)
c.314-1047C>A (n.314-1047C>A)
c.212C>A
n.762C>A
n.729C>A
 ClinVar dbSNP
19g.11105518C=CA2322767537LDLRc.870C= (p.Cys290=)
c.612C= (p.Cys204=)
c.866C=
c.314-1874C= (n.314-1874C=)
c.489C= (p.Cys163=)
c.314-1047C= (n.314-1047C=)
c.212C=
n.762C=
n.729C=
19g.11105518C>GCA404077818LDLRc.870C>G (p.Cys290Trp)
c.612C>G (p.Cys204Trp)
c.866C>G
c.314-1874C>G (n.314-1874C>G)
c.489C>G (p.Cys163Trp)
c.314-1047C>G (n.314-1047C>G)
c.212C>G
n.762C>G
n.729C>G
19g.11105518C>TCA505743455LDLRc.870C>T (p.Cys290=)
c.612C>T (p.Cys204=)
c.866C>T
c.314-1874C>T (n.314-1874C>T)
c.489C>T (p.Cys163=)
c.314-1047C>T (n.314-1047C>T)
c.212C>T
n.762C>T
n.729C>T
19g.11105519C>ACA404077824LDLRc.871C>A (p.Leu291Ile)
c.613C>A (p.Leu205Ile)
c.867C>A
c.314-1873C>A (n.314-1873C>A)
c.490C>A (p.Leu164Ile)
c.314-1046C>A (n.314-1046C>A)
c.213C>A
n.763C>A
n.730C>A
19g.11105519C=CA2322767538LDLRc.871C= (p.Leu291=)
c.613C= (p.Leu205=)
c.867C=
c.314-1873C= (n.314-1873C=)
c.490C= (p.Leu164=)
c.314-1046C= (n.314-1046C=)
c.213C=
n.763C=
n.730C=
19g.11105519C>GCA404077826LDLRc.871C>G (p.Leu291Val)
c.613C>G (p.Leu205Val)
c.867C>G
c.314-1873C>G (n.314-1873C>G)
c.490C>G (p.Leu164Val)
c.314-1046C>G (n.314-1046C>G)
c.213C>G
n.763C>G
n.730C>G
 ClinVar dbSNP
19g.11105519C>TCA505743457LDLRc.871C>T (p.Leu291=)
c.613C>T (p.Leu205=)
c.867C>T
c.314-1873C>T (n.314-1873C>T)
c.490C>T (p.Leu164=)
c.314-1046C>T (n.314-1046C>T)
c.213C>T
n.763C>T
n.730C>T
 dbSNP gnomAD v2 gnomAD v4
19g.11105520T>ACA404077832LDLRc.872T>A (p.Leu291Gln)
c.614T>A (p.Leu205Gln)
c.868T>A
c.314-1872T>A (n.314-1872T>A)
c.491T>A (p.Leu164Gln)
c.314-1045T>A (n.314-1045T>A)
c.214T>A
n.764T>A
n.731T>A
 gnomAD v4
19g.11105520T>CCA404077837LDLRc.872T>C (p.Leu291Pro)
c.614T>C (p.Leu205Pro)
c.868T>C
c.314-1872T>C (n.314-1872T>C)
c.491T>C (p.Leu164Pro)
c.314-1045T>C (n.314-1045T>C)
c.214T>C
n.764T>C
n.731T>C
19g.11105520T>GCA404077840LDLRc.872T>G (p.Leu291Arg)
c.614T>G (p.Leu205Arg)
c.868T>G
c.314-1872T>G (n.314-1872T>G)
c.491T>G (p.Leu164Arg)
c.314-1045T>G (n.314-1045T>G)
c.214T>G
n.764T>G
n.731T>G
19g.11105520T=CA2322767539LDLRc.872T= (p.Leu291=)
c.614T= (p.Leu205=)
c.868T=
c.314-1872T= (n.314-1872T=)
c.491T= (p.Leu164=)
c.314-1045T= (n.314-1045T=)
c.214T=
n.764T=
n.731T=
19g.11105521A>CCA505743458LDLRc.873A>C (p.Leu291=)
c.615A>C (p.Leu205=)
c.869A>C
c.314-1871A>C (n.314-1871A>C)
c.492A>C (p.Leu164=)
c.314-1044A>C (n.314-1044A>C)
c.215A>C
n.765A>C
n.732A>C
19g.11105521A>GCA505743459LDLRc.873A>G (p.Leu291=)
c.615A>G (p.Leu205=)
c.869A>G
c.314-1871A>G (n.314-1871A>G)
c.492A>G (p.Leu164=)
c.314-1044A>G (n.314-1044A>G)
c.215A>G
n.765A>G
n.732A>G
19g.11105521A>TCA505743460LDLRc.873A>T (p.Leu291=)
c.615A>T (p.Leu205=)
c.869A>T
c.314-1871A>T (n.314-1871A>T)
c.492A>T (p.Leu164=)
c.314-1044A>T (n.314-1044A>T)
c.215A>T
n.765A>T
n.732A>T
19g.11105522dupCA10585013LDLRc.874dup (p.Ser292LysfsTer12)
c.616dup (p.Ser206LysfsTer12)
c.870dup
c.314-1870dup (n.314-1870dup)
c.493dup (p.Ser165LysfsTer12)
c.314-1043dup (n.314-1043dup)
c.216dup
n.766dup
n.733dup
 ClinVar dbSNP gnomAD v4
19g.11105522delCA2573050577LDLRc.874del (p.Ser292ValfsTer?)
c.616del (p.Ser206ValfsTer?)
c.870del
c.314-1870del (n.314-1870del)
c.493del (p.Ser165ValfsTer?)
c.314-1043del (n.314-1043del)
c.216del
n.766del
n.733del
19g.11105521_11105542delinsAAGTGGCGAGTGCATCCACTCCCA2322767540LDLRc.873_894delinsAAGTGGCGAGTGCATCCACTCC (p.Leu291=)
c.615_636delinsAAGTGGCGAGTGCATCCACTCC (p.Leu205=)
c.869_890delinsAAGTGGCGAGTGCATCCACTCC
c.314-1871_314-1850delinsAAGTGGCGAGTGCATCCACTCC (n.314-1871_314-1850delinsAAGTGGCGAGTGCATCCACTCC)
c.492_513delinsAAGTGGCGAGTGCATCCACTCC (p.Leu164=)
c.314-1044_314-1023delinsAAGTGGCGAGTGCATCCACTCC (n.314-1044_314-1023delinsAAGTGGCGAGTGCATCCACTCC)
c.215_236delinsAAGTGGCGAGTGCATCCACTCC
n.765_786delinsAAGTGGCGAGTGCATCCACTCC
n.732_753delinsAAGTGGCGAGTGCATCCACTCC
19g.11105522A=CA2322767542LDLRc.874A= (p.Ser292=)
c.616A= (p.Ser206=)
c.870A=
c.314-1870A= (n.314-1870A=)
c.493A= (p.Ser165=)
c.314-1043A= (n.314-1043A=)
c.216A=
n.766A=
n.733A=
19g.11105522A>CCA404077844LDLRc.874A>C (p.Ser292Arg)
c.616A>C (p.Ser206Arg)
c.870A>C
c.314-1870A>C (n.314-1870A>C)
c.493A>C (p.Ser165Arg)
c.314-1043A>C (n.314-1043A>C)
c.216A>C
n.766A>C
n.733A>C
 ClinVar dbSNP
19g.11105522A>GCA404077847LDLRc.874A>G (p.Ser292Gly)
c.616A>G (p.Ser206Gly)
c.870A>G
c.314-1870A>G (n.314-1870A>G)
c.493A>G (p.Ser165Gly)
c.314-1043A>G (n.314-1043A>G)
c.216A>G
n.766A>G
n.733A>G
19g.11105522A>TCA404077848LDLRc.874A>T (p.Ser292Cys)
c.616A>T (p.Ser206Cys)
c.870A>T
c.314-1870A>T (n.314-1870A>T)
c.493A>T (p.Ser165Cys)
c.314-1043A>T (n.314-1043A>T)
c.216A>T
n.766A>T
n.733A>T
19g.11105522_11105523delinsAGCA2322767541LDLRc.874_875delinsAG (p.Ser292=)
c.616_617delinsAG (p.Ser206=)
c.870_871delinsAG
c.314-1870_314-1869delinsAG (n.314-1870_314-1869delinsAG)
c.493_494delinsAG (p.Ser165=)
c.314-1043_314-1042delinsAG (n.314-1043_314-1042delinsAG)
c.216_217delinsAG
n.766_767delinsAG
n.733_734delinsAG
19g.11105526_11105532delCA2497030124LDLRc.878_884del (p.Gly293AlafsTer?)
c.620_626del (p.Gly207AlafsTer?)
c.874_880del
c.314-1866_314-1860del (n.314-1866_314-1860del)
c.497_503del (p.Gly166AlafsTer?)
c.314-1039_314-1033del (n.314-1039_314-1033del)
c.220_226del
n.770_776del
n.737_743del
 ClinVar dbSNP
19g.11105524_11105544delCA10588893LDLRc.876_896del (p.Gly293_Ser299del)
c.618_638del (p.Gly207_Ser213del)
c.872_892del
c.314-1868_314-1848del (n.314-1868_314-1848del)
c.495_515del (p.Gly166_Ser172del)
c.314-1041_314-1021del (n.314-1041_314-1021del)
c.218_238del
n.768_788del
n.735_755del
 ClinVar dbSNP
19g.11105523delCA10585014LDLRc.875del (p.Ser292MetfsTer?)
c.617del (p.Ser206MetfsTer?)
c.871del
c.314-1869del (n.314-1869del)
c.494del (p.Ser165MetfsTer?)
c.314-1042del (n.314-1042del)
c.217del
n.767del
n.734del
 ClinVar dbSNP
19g.11105523G>ACA404077856LDLRc.875G>A (p.Ser292Asn)
c.617G>A (p.Ser206Asn)
c.871G>A
c.314-1869G>A (n.314-1869G>A)
c.494G>A (p.Ser165Asn)
c.314-1042G>A (n.314-1042G>A)
c.217G>A
n.767G>A
n.734G>A
19g.11105523G>CCA404077863LDLRc.875G>C (p.Ser292Thr)
c.617G>C (p.Ser206Thr)
c.871G>C
c.314-1869G>C (n.314-1869G>C)
c.494G>C (p.Ser165Thr)
c.314-1042G>C (n.314-1042G>C)
c.217G>C
n.767G>C
n.734G>C
19g.11105523G>TCA404077868LDLRc.875G>T (p.Ser292Ile)
c.617G>T (p.Ser206Ile)
c.871G>T
c.314-1869G>T (n.314-1869G>T)
c.494G>T (p.Ser165Ile)
c.314-1042G>T (n.314-1042G>T)
c.217G>T
n.767G>T
n.734G>T
 gnomAD v4 COSMIC
19g.11105523_11105545delinsGTGGCGAGTGCATCCACTCCAGCCA2322767543LDLRc.875_897delinsGTGGCGAGTGCATCCACTCCAGC (p.Ser292=)
c.617_639delinsGTGGCGAGTGCATCCACTCCAGC (p.Ser206=)
c.871_893delinsGTGGCGAGTGCATCCACTCCAGC
c.314-1869_314-1847delinsGTGGCGAGTGCATCCACTCCAGC (n.314-1869_314-1847delinsGTGGCGAGTGCATCCACTCCAGC)
c.494_516delinsGTGGCGAGTGCATCCACTCCAGC (p.Ser165=)
c.314-1042_314-1020delinsGTGGCGAGTGCATCCACTCCAGC (n.314-1042_314-1020delinsGTGGCGAGTGCATCCACTCCAGC)
c.217_239delinsGTGGCGAGTGCATCCACTCCAGC
n.767_789delinsGTGGCGAGTGCATCCACTCCAGC
n.734_756delinsGTGGCGAGTGCATCCACTCCAGC
19g.11105524T>ACA404077879LDLRc.876T>A (p.Ser292Arg)
c.618T>A (p.Ser206Arg)
c.872T>A
c.314-1868T>A (n.314-1868T>A)
c.495T>A (p.Ser165Arg)
c.314-1041T>A (n.314-1041T>A)
c.218T>A
n.768T>A
n.735T>A
 ClinVar dbSNP
19g.11105524T>CCA505743464LDLRc.876T>C (p.Ser292=)
c.618T>C (p.Ser206=)
c.872T>C
c.314-1868T>C (n.314-1868T>C)
c.495T>C (p.Ser165=)
c.314-1041T>C (n.314-1041T>C)
c.218T>C
n.768T>C
n.735T>C
19g.11105524T>GCA10585015LDLRc.876T>G (p.Ser292Arg)
c.618T>G (p.Ser206Arg)
c.872T>G
c.314-1868T>G (n.314-1868T>G)
c.495T>G (p.Ser165Arg)
c.314-1041T>G (n.314-1041T>G)
c.218T>G
n.768T>G
n.735T>G
 ClinVar dbSNP
19g.11105524T=CA2322767544LDLRc.876T= (p.Ser292=)
c.618T= (p.Ser206=)
c.872T=
c.314-1868T= (n.314-1868T=)
c.495T= (p.Ser165=)
c.314-1041T= (n.314-1041T=)
c.218T=
n.768T=
n.735T=
19g.11105524_11105545delinsTGGCGAGTGCATCCACTCCAGCCA2322767545LDLRc.876_897delinsTGGCGAGTGCATCCACTCCAGC (p.Ser292=)
c.618_639delinsTGGCGAGTGCATCCACTCCAGC (p.Ser206=)
c.872_893delinsTGGCGAGTGCATCCACTCCAGC
c.314-1868_314-1847delinsTGGCGAGTGCATCCACTCCAGC (n.314-1868_314-1847delinsTGGCGAGTGCATCCACTCCAGC)
c.495_516delinsTGGCGAGTGCATCCACTCCAGC (p.Ser165=)
c.314-1041_314-1020delinsTGGCGAGTGCATCCACTCCAGC (n.314-1041_314-1020delinsTGGCGAGTGCATCCACTCCAGC)
c.218_239delinsTGGCGAGTGCATCCACTCCAGC
n.768_789delinsTGGCGAGTGCATCCACTCCAGC
n.735_756delinsTGGCGAGTGCATCCACTCCAGC
19g.11105529_11105550delCA10585020LDLRc.881_902del (p.Glu294AlafsTer?)
c.623_644del (p.Glu208AlafsTer?)
c.877_898del
c.314-1863_314-1842del (n.314-1863_314-1842del)
c.500_521del (p.Glu167AlafsTer?)
c.314-1036_314-1015del (n.314-1036_314-1015del)
c.223_244del
n.773_794del
n.740_761del
 ClinVar dbSNP
19g.11105525G>ACA404077884LDLRc.877G>A (p.Gly293Ser)
c.619G>A (p.Gly207Ser)
c.873G>A
c.314-1867G>A (n.314-1867G>A)
c.496G>A (p.Gly166Ser)
c.314-1040G>A (n.314-1040G>A)
c.219G>A
n.769G>A
n.736G>A
 gnomAD v4
19g.11105525G>CCA404077888LDLRc.877G>C (p.Gly293Arg)
c.619G>C (p.Gly207Arg)
c.873G>C
c.314-1867G>C (n.314-1867G>C)
c.496G>C (p.Gly166Arg)
c.314-1040G>C (n.314-1040G>C)
c.219G>C
n.769G>C
n.736G>C
19g.11105525G>TCA404077900LDLRc.877G>T (p.Gly293Cys)
c.619G>T (p.Gly207Cys)
c.873G>T
c.314-1867G>T (n.314-1867G>T)
c.496G>T (p.Gly166Cys)
c.314-1040G>T (n.314-1040G>T)
c.219G>T
n.769G>T
n.736G>T
 ClinVar dbSNP
19g.11105525_11105545delCA10585016LDLRc.877_897del (p.Gly293_Ser299del)
c.619_639del (p.Gly207_Ser213del)
c.873_893del
c.314-1867_314-1847del (n.314-1867_314-1847del)
c.496_516del (p.Gly166_Ser172del)
c.314-1040_314-1020del (n.314-1040_314-1020del)
c.219_239del
n.769_789del
n.736_756del
 ClinVar dbSNP
19g.11105526G>ACA044132LDLRc.878G>A (p.Gly293Asp)
c.620G>A (p.Gly207Asp)
c.874G>A
c.314-1866G>A (n.314-1866G>A)
c.497G>A (p.Gly166Asp)
c.314-1039G>A (n.314-1039G>A)
c.220G>A
n.770G>A
n.737G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105526G>CCA404077907LDLRc.878G>C (p.Gly293Ala)
c.620G>C (p.Gly207Ala)
c.874G>C
c.314-1866G>C (n.314-1866G>C)
c.497G>C (p.Gly166Ala)
c.314-1039G>C (n.314-1039G>C)
c.220G>C
n.770G>C
n.737G>C
19g.11105526G=CA2322767546LDLRc.878G= (p.Gly293=)
c.620G= (p.Gly207=)
c.874G=
c.314-1866G= (n.314-1866G=)
c.497G= (p.Gly166=)
c.314-1039G= (n.314-1039G=)
c.220G=
n.770G=
n.737G=
19g.11105526G>TCA404077910LDLRc.878G>T (p.Gly293Val)
c.620G>T (p.Gly207Val)
c.874G>T
c.314-1866G>T (n.314-1866G>T)
c.497G>T (p.Gly166Val)
c.314-1039G>T (n.314-1039G>T)
c.220G>T
n.770G>T
n.737G>T
19g.11105527C>ACA505743468LDLRc.879C>A (p.Gly293=)
c.621C>A (p.Gly207=)
c.875C>A
c.314-1865C>A (n.314-1865C>A)
c.498C>A (p.Gly166=)
c.314-1038C>A (n.314-1038C>A)
c.221C>A
n.771C>A
n.738C>A
 ClinVar dbSNP gnomAD v4
19g.11105527C=CA2322767547LDLRc.879C= (p.Gly293=)
c.621C= (p.Gly207=)
c.875C=
c.314-1865C= (n.314-1865C=)
c.498C= (p.Gly166=)
c.314-1038C= (n.314-1038C=)
c.221C=
n.771C=
n.738C=
19g.11105527C>GCA10585017LDLRc.879C>G (p.Gly293=)
c.621C>G (p.Gly207=)
c.875C>G
c.314-1865C>G (n.314-1865C>G)
c.498C>G (p.Gly166=)
c.314-1038C>G (n.314-1038C>G)
c.221C>G
n.771C>G
n.738C>G
 ClinVar dbSNP gnomAD v4
19g.11105527C>TCA023732LDLRc.879C>T (p.Gly293=)
c.621C>T (p.Gly207=)
c.875C>T
c.314-1865C>T (n.314-1865C>T)
c.498C>T (p.Gly166=)
c.314-1038C>T (n.314-1038C>T)
c.221C>T
n.771C>T
n.738C>T
 ClinVar dbSNP gnomAD v4
19g.11105528G>ACA10585018LDLRc.880G>A (p.Glu294Lys)
c.622G>A (p.Glu208Lys)
c.876G>A
c.314-1864G>A (n.314-1864G>A)
c.499G>A (p.Glu167Lys)
c.314-1037G>A (n.314-1037G>A)
c.222G>A
n.772G>A
n.739G>A
 ClinVar dbSNP gnomAD v4
19g.11105528G>CCA404077918LDLRc.880G>C (p.Glu294Gln)
c.622G>C (p.Glu208Gln)
c.876G>C
c.314-1864G>C (n.314-1864G>C)
c.499G>C (p.Glu167Gln)
c.314-1037G>C (n.314-1037G>C)
c.222G>C
n.772G>C
n.739G>C
19g.11105528G=CA2322767548LDLRc.880G= (p.Glu294=)
c.622G= (p.Glu208=)
c.876G=
c.314-1864G= (n.314-1864G=)
c.499G= (p.Glu167=)
c.314-1037G= (n.314-1037G=)
c.222G=
n.772G=
n.739G=
19g.11105528G>TCA10585019LDLRc.880G>T (p.Glu294Ter)
c.622G>T (p.Glu208Ter)
c.876G>T
c.314-1864G>T (n.314-1864G>T)
c.499G>T (p.Glu167Ter)
c.314-1037G>T (n.314-1037G>T)
c.222G>T
n.772G>T
n.739G>T
 ClinVar dbSNP
19g.11105529A=CA2322767549LDLRc.881A= (p.Glu294=)
c.623A= (p.Glu208=)
c.877A=
c.314-1863A= (n.314-1863A=)
c.500A= (p.Glu167=)
c.314-1036A= (n.314-1036A=)
c.223A=
n.773A=
n.740A=
19g.11105529A>CCA404077933LDLRc.881A>C (p.Glu294Ala)
c.623A>C (p.Glu208Ala)
c.877A>C
c.314-1863A>C (n.314-1863A>C)
c.500A>C (p.Glu167Ala)
c.314-1036A>C (n.314-1036A>C)
c.223A>C
n.773A>C
n.740A>C
19g.11105529A>GCA404077925LDLRc.881A>G (p.Glu294Gly)
c.623A>G (p.Glu208Gly)
c.877A>G
c.314-1863A>G (n.314-1863A>G)
c.500A>G (p.Glu167Gly)
c.314-1036A>G (n.314-1036A>G)
c.223A>G
n.773A>G
n.740A>G
19g.11105529A>TCA404077929LDLRc.881A>T (p.Glu294Val)
c.623A>T (p.Glu208Val)
c.877A>T
c.314-1863A>T (n.314-1863A>T)
c.500A>T (p.Glu167Val)
c.314-1036A>T (n.314-1036A>T)
c.223A>T
n.773A>T
n.740A>T
19g.11105530G>ACA505743472LDLRc.882G>A (p.Glu294=)
c.624G>A (p.Glu208=)
c.878G>A
c.314-1862G>A (n.314-1862G>A)
c.501G>A (p.Glu167=)
c.314-1035G>A (n.314-1035G>A)
c.224G>A
n.774G>A
n.741G>A
 dbSNP gnomAD v3 gnomAD v4
19g.11105530G>CCA404077939LDLRc.882G>C (p.Glu294Asp)
c.624G>C (p.Glu208Asp)
c.878G>C
c.314-1862G>C (n.314-1862G>C)
c.501G>C (p.Glu167Asp)
c.314-1035G>C (n.314-1035G>C)
c.224G>C
n.774G>C
n.741G>C
19g.11105530G=CA2322767550LDLRc.882G= (p.Glu294=)
c.624G= (p.Glu208=)
c.878G=
c.314-1862G= (n.314-1862G=)
c.501G= (p.Glu167=)
c.314-1035G= (n.314-1035G=)
c.224G=
n.774G=
n.741G=
19g.11105530G>TCA404077942LDLRc.882G>T (p.Glu294Asp)
c.624G>T (p.Glu208Asp)
c.878G>T
c.314-1862G>T (n.314-1862G>T)
c.501G>T (p.Glu167Asp)
c.314-1035G>T (n.314-1035G>T)
c.224G>T
n.774G>T
n.741G>T
19g.11105531_11105532dupCA10585021LDLRc.883_884dup (p.Ile296AlafsTer?)
c.625_626dup (p.Ile210AlafsTer?)
c.879_880dup
c.314-1861_314-1860dup (n.314-1861_314-1860dup)
c.502_503dup (p.Ile169AlafsTer?)
c.314-1034_314-1033dup (n.314-1034_314-1033dup)
c.225_226dup
n.775_776dup
n.742_743dup
 ClinVar dbSNP
19g.11105531T>ACA404077950LDLRc.883T>A (p.Cys295Ser)
c.625T>A (p.Cys209Ser)
c.879T>A
c.314-1861T>A (n.314-1861T>A)
c.502T>A (p.Cys168Ser)
c.314-1034T>A (n.314-1034T>A)
c.225T>A
n.775T>A
n.742T>A
19g.11105531T>CCA404077954LDLRc.883T>C (p.Cys295Arg)
c.625T>C (p.Cys209Arg)
c.879T>C
c.314-1861T>C (n.314-1861T>C)
c.502T>C (p.Cys168Arg)
c.314-1034T>C (n.314-1034T>C)
c.225T>C
n.775T>C
n.742T>C
19g.11105531T>GCA404077955LDLRc.883T>G (p.Cys295Gly)
c.625T>G (p.Cys209Gly)
c.879T>G
c.314-1861T>G (n.314-1861T>G)
c.502T>G (p.Cys168Gly)
c.314-1034T>G (n.314-1034T>G)
c.225T>G
n.775T>G
n.742T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11105531T=CA2322767551LDLRc.883T= (p.Cys295=)
c.625T= (p.Cys209=)
c.879T=
c.314-1861T= (n.314-1861T=)
c.502T= (p.Cys168=)
c.314-1034T= (n.314-1034T=)
c.225T=
n.775T=
n.742T=
19g.11105532G>ACA10585022LDLRc.884G>A (p.Cys295Tyr)
c.626G>A (p.Cys209Tyr)
c.880G>A
c.314-1860G>A (n.314-1860G>A)
c.503G>A (p.Cys168Tyr)
c.314-1033G>A (n.314-1033G>A)
c.226G>A
n.776G>A
n.743G>A
 ClinVar dbSNP gnomAD v4
19g.11105532G>CCA404077962LDLRc.884G>C (p.Cys295Ser)
c.626G>C (p.Cys209Ser)
c.880G>C
c.314-1860G>C (n.314-1860G>C)
c.503G>C (p.Cys168Ser)
c.314-1033G>C (n.314-1033G>C)
c.226G>C
n.776G>C
n.743G>C
19g.11105532G=CA2322767552LDLRc.884G= (p.Cys295=)
c.626G= (p.Cys209=)
c.880G=
c.314-1860G= (n.314-1860G=)
c.503G= (p.Cys168=)
c.314-1033G= (n.314-1033G=)
c.226G=
n.776G=
n.743G=
19g.11105532G>TCA404077959LDLRc.884G>T (p.Cys295Phe)
c.626G>T (p.Cys209Phe)
c.880G>T
c.314-1860G>T (n.314-1860G>T)
c.503G>T (p.Cys168Phe)
c.314-1033G>T (n.314-1033G>T)
c.226G>T
n.776G>T
n.743G>T
19g.11105534_11105549dupCA2695223205LDLRc.886_901dup (p.Arg301HisfsTer8)
c.628_643dup (p.Arg215HisfsTer8)
c.882_897dup
c.314-1858_314-1843dup (n.314-1858_314-1843dup)
c.505_520dup (p.Arg174HisfsTer8)
c.314-1031_314-1016dup (n.314-1031_314-1016dup)
c.228_243dup
n.778_793dup
n.745_760dup
19g.11105533C>ACA404077967LDLRc.885C>A (p.Cys295Ter)
c.627C>A (p.Cys209Ter)
c.881C>A
c.314-1859C>A (n.314-1859C>A)
c.504C>A (p.Cys168Ter)
c.314-1032C>A (n.314-1032C>A)
c.227C>A
n.777C>A
n.744C>A
19g.11105533C>GCA404077971LDLRc.885C>G (p.Cys295Trp)
c.627C>G (p.Cys209Trp)
c.881C>G
c.314-1859C>G (n.314-1859C>G)
c.504C>G (p.Cys168Trp)
c.314-1032C>G (n.314-1032C>G)
c.227C>G
n.777C>G
n.744C>G
19g.11105533C>TCA505743474LDLRc.885C>T (p.Cys295=)
c.627C>T (p.Cys209=)
c.881C>T
c.314-1859C>T (n.314-1859C>T)
c.504C>T (p.Cys168=)
c.314-1032C>T (n.314-1032C>T)
c.227C>T
n.777C>T
n.744C>T
 ClinVar dbSNP
19g.11105534A=CA2322767553LDLRc.886A= (p.Ile296=)
c.628A= (p.Ile210=)
c.882A=
c.314-1858A= (n.314-1858A=)
c.505A= (p.Ile169=)
c.314-1031A= (n.314-1031A=)
c.228A=
n.778A=
n.745A=
19g.11105534A>CCA404077978LDLRc.886A>C (p.Ile296Leu)
c.628A>C (p.Ile210Leu)
c.882A>C
c.314-1858A>C (n.314-1858A>C)
c.505A>C (p.Ile169Leu)
c.314-1031A>C (n.314-1031A>C)
c.228A>C
n.778A>C
n.745A>C
 ClinVar dbSNP
19g.11105534A>GCA404077981LDLRc.886A>G (p.Ile296Val)
c.628A>G (p.Ile210Val)
c.882A>G
c.314-1858A>G (n.314-1858A>G)
c.505A>G (p.Ile169Val)
c.314-1031A>G (n.314-1031A>G)
c.228A>G
n.778A>G
n.745A>G
 gnomAD v4
19g.11105534A>TCA404077983LDLRc.886A>T (p.Ile296Phe)
c.628A>T (p.Ile210Phe)
c.882A>T
c.314-1858A>T (n.314-1858A>T)
c.505A>T (p.Ile169Phe)
c.314-1031A>T (n.314-1031A>T)
c.228A>T
n.778A>T
n.745A>T
 gnomAD v4
19g.11105535T>ACA10585023LDLRc.887T>A (p.Ile296Asn)
c.629T>A (p.Ile210Asn)
c.883T>A
c.314-1857T>A (n.314-1857T>A)
c.506T>A (p.Ile169Asn)
c.314-1030T>A (n.314-1030T>A)
c.229T>A
n.779T>A
n.746T>A
 ClinVar dbSNP
19g.11105535T>CCA16602303LDLRc.887T>C (p.Ile296Thr)
c.629T>C (p.Ile210Thr)
c.883T>C
c.314-1857T>C (n.314-1857T>C)
c.506T>C (p.Ile169Thr)
c.314-1030T>C (n.314-1030T>C)
c.229T>C
n.779T>C
n.746T>C
 ClinVar dbSNP
19g.11105535T>GCA404078014LDLRc.887T>G (p.Ile296Ser)
c.629T>G (p.Ile210Ser)
c.883T>G
c.314-1857T>G (n.314-1857T>G)
c.506T>G (p.Ile169Ser)
c.314-1030T>G (n.314-1030T>G)
c.229T>G
n.779T>G
n.746T>G
19g.11105535T=CA2322767554LDLRc.887T= (p.Ile296=)
c.629T= (p.Ile210=)
c.883T=
c.314-1857T= (n.314-1857T=)
c.506T= (p.Ile169=)
c.314-1030T= (n.314-1030T=)
c.229T=
n.779T=
n.746T=
19g.11105536C>ACA505743476LDLRc.888C>A (p.Ile296=)
c.630C>A (p.Ile210=)
c.884C>A
c.314-1856C>A (n.314-1856C>A)
c.507C>A (p.Ile169=)
c.314-1029C>A (n.314-1029C>A)
c.230C>A
n.780C>A
n.747C>A
19g.11105536C=CA2322767555LDLRc.888C= (p.Ile296=)
c.630C= (p.Ile210=)
c.884C=
c.314-1856C= (n.314-1856C=)
c.507C= (p.Ile169=)
c.314-1029C= (n.314-1029C=)
c.230C=
n.780C=
n.747C=
19g.11105536C>GCA404078021LDLRc.888C>G (p.Ile296Met)
c.630C>G (p.Ile210Met)
c.884C>G
c.314-1856C>G (n.314-1856C>G)
c.507C>G (p.Ile169Met)
c.314-1029C>G (n.314-1029C>G)
c.230C>G
n.780C>G
n.747C>G
19g.11105536C>TCA505743477LDLRc.888C>T (p.Ile296=)
c.630C>T (p.Ile210=)
c.884C>T
c.314-1856C>T (n.314-1856C>T)
c.507C>T (p.Ile169=)
c.314-1029C>T (n.314-1029C>T)
c.230C>T
n.780C>T
n.747C>T
 ClinVar dbSNP
19g.11105537C>ACA404078033LDLRc.889C>A (p.His297Asn)
c.631C>A (p.His211Asn)
c.885C>A
c.314-1855C>A (n.314-1855C>A)
c.508C>A (p.His170Asn)
c.314-1028C>A (n.314-1028C>A)
c.231C>A
n.781C>A
n.748C>A
19g.11105537C=CA2322767557LDLRc.889C= (p.His297=)
c.631C= (p.His211=)
c.885C=
c.314-1855C= (n.314-1855C=)
c.508C= (p.His170=)
c.314-1028C= (n.314-1028C=)
c.231C=
n.781C=
n.748C=
19g.11105537C>GCA10585024LDLRc.889C>G (p.His297Asp)
c.631C>G (p.His211Asp)
c.885C>G
c.314-1855C>G (n.314-1855C>G)
c.508C>G (p.His170Asp)
c.314-1028C>G (n.314-1028C>G)
c.231C>G
n.781C>G
n.748C>G
 ClinVar dbSNP
19g.11105537C>TCA044139LDLRc.889C>T (p.His297Tyr)
c.631C>T (p.His211Tyr)
c.885C>T
c.314-1855C>T (n.314-1855C>T)
c.508C>T (p.His170Tyr)
c.314-1028C>T (n.314-1028C>T)
c.231C>T
n.781C>T
n.748C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105537_11105540delinsCACTCA2322767556LDLRc.889_892delinsCACT (p.His297=)
c.631_634delinsCACT (p.His211=)
c.885_888delinsCACT
c.314-1855_314-1852delinsCACT (n.314-1855_314-1852delinsCACT)
c.508_511delinsCACT (p.His170=)
c.314-1028_314-1025delinsCACT (n.314-1028_314-1025delinsCACT)
c.231_234delinsCACT
n.781_784delinsCACT
n.748_751delinsCACT
19g.11105538A=CA2322767558LDLRc.890A= (p.His297=)
c.632A= (p.His211=)
c.886A=
c.314-1854A= (n.314-1854A=)
c.509A= (p.His170=)
c.314-1027A= (n.314-1027A=)
c.232A=
n.782A=
n.749A=
19g.11105538A>CCA404078040LDLRc.890A>C (p.His297Pro)
c.632A>C (p.His211Pro)
c.886A>C
c.314-1854A>C (n.314-1854A>C)
c.509A>C (p.His170Pro)
c.314-1027A>C (n.314-1027A>C)
c.232A>C
n.782A>C
n.749A>C
 gnomAD v4
19g.11105538A>GCA404078044LDLRc.890A>G (p.His297Arg)
c.632A>G (p.His211Arg)
c.886A>G
c.314-1854A>G (n.314-1854A>G)
c.509A>G (p.His170Arg)
c.314-1027A>G (n.314-1027A>G)
c.232A>G
n.782A>G
n.749A>G
19g.11105538A>TCA10585025LDLRc.890A>T (p.His297Leu)
c.632A>T (p.His211Leu)
c.886A>T
c.314-1854A>T (n.314-1854A>T)
c.509A>T (p.His170Leu)
c.314-1027A>T (n.314-1027A>T)
c.232A>T
n.782A>T
n.749A>T
 ClinVar dbSNP gnomAD v4
19g.11105538_11105540delCA10585026LDLRc.890_892del (p.His297_Ser298delinsPro)
c.632_634del (p.His211_Ser212delinsPro)
c.886_888del
c.314-1854_314-1852del (n.314-1854_314-1852del)
c.509_511del (p.His170_Ser171delinsPro)
c.314-1027_314-1025del (n.314-1027_314-1025del)
c.232_234del
n.782_784del
n.749_751del
 ClinVar dbSNP
19g.11105539C>ACA404078052LDLRc.891C>A (p.His297Gln)
c.633C>A (p.His211Gln)
c.887C>A
c.314-1853C>A (n.314-1853C>A)
c.510C>A (p.His170Gln)
c.314-1026C>A (n.314-1026C>A)
c.233C>A
n.783C>A
n.750C>A
19g.11105539C>GCA404078055LDLRc.891C>G (p.His297Gln)
c.633C>G (p.His211Gln)
c.887C>G
c.314-1853C>G (n.314-1853C>G)
c.510C>G (p.His170Gln)
c.314-1026C>G (n.314-1026C>G)
c.233C>G
n.783C>G
n.750C>G
19g.11105539C>TCA505743480LDLRc.891C>T (p.His297=)
c.633C>T (p.His211=)
c.887C>T
c.314-1853C>T (n.314-1853C>T)
c.510C>T (p.His170=)
c.314-1026C>T (n.314-1026C>T)
c.233C>T
n.783C>T
n.750C>T
 ClinVar dbSNP
19g.11105540T>ACA404078061LDLRc.892T>A (p.Ser298Thr)
c.634T>A (p.Ser212Thr)
c.888T>A
c.314-1852T>A (n.314-1852T>A)
c.511T>A (p.Ser171Thr)
c.314-1025T>A (n.314-1025T>A)
c.234T>A
n.784T>A
n.751T>A
19g.11105540T>CCA404078064LDLRc.892T>C (p.Ser298Pro)
c.634T>C (p.Ser212Pro)
c.888T>C
c.314-1852T>C (n.314-1852T>C)
c.511T>C (p.Ser171Pro)
c.314-1025T>C (n.314-1025T>C)
c.234T>C
n.784T>C
n.751T>C
 gnomAD v4
19g.11105540T>GCA404078068LDLRc.892T>G (p.Ser298Ala)
c.634T>G (p.Ser212Ala)
c.888T>G
c.314-1852T>G (n.314-1852T>G)
c.511T>G (p.Ser171Ala)
c.314-1025T>G (n.314-1025T>G)
c.234T>G
n.784T>G
n.751T>G
19g.11105541C>ACA404078072LDLRc.893C>A (p.Ser298Tyr)
c.635C>A (p.Ser212Tyr)
c.889C>A
c.314-1851C>A (n.314-1851C>A)
c.512C>A (p.Ser171Tyr)
c.314-1024C>A (n.314-1024C>A)
c.235C>A
n.785C>A
n.752C>A
19g.11105541C=CA2322767559LDLRc.893C= (p.Ser298=)
c.635C= (p.Ser212=)
c.889C=
c.314-1851C= (n.314-1851C=)
c.512C= (p.Ser171=)
c.314-1024C= (n.314-1024C=)
c.235C=
n.785C=
n.752C=
19g.11105541C>GCA404078077LDLRc.893C>G (p.Ser298Cys)
c.635C>G (p.Ser212Cys)
c.889C>G
c.314-1851C>G (n.314-1851C>G)
c.512C>G (p.Ser171Cys)
c.314-1024C>G (n.314-1024C>G)
c.235C>G
n.785C>G
n.752C>G
 dbSNP
19g.11105541C>TCA404078074LDLRc.893C>T (p.Ser298Phe)
c.635C>T (p.Ser212Phe)
c.889C>T
c.314-1851C>T (n.314-1851C>T)
c.512C>T (p.Ser171Phe)
c.314-1024C>T (n.314-1024C>T)
c.235C>T
n.785C>T
n.752C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105542delCA2695238670LDLRc.894del (p.Ser299AlafsTer?)
c.636del (p.Ser213AlafsTer?)
c.890del
c.314-1850del (n.314-1850del)
c.513del (p.Ser172AlafsTer?)
c.314-1023del (n.314-1023del)
c.236del
n.786del
n.753del
19g.11105541_11105549dupCA2580096467LDLRc.893_901dup (p.Trp300_Arg301insProSerTrp)
c.635_643dup (p.Trp214_Arg215insProSerTrp)
c.889_897dup
c.314-1851_314-1843dup (n.314-1851_314-1843dup)
c.512_520dup (p.Trp173_Arg174insProSerTrp)
c.314-1024_314-1016dup (n.314-1024_314-1016dup)
c.235_243dup
n.785_793dup
n.752_760dup
 ClinVar
19g.11105542C>ACA044162LDLRc.894C>A (p.Ser298=)
c.636C>A (p.Ser212=)
c.890C>A
c.314-1850C>A (n.314-1850C>A)
c.513C>A (p.Ser171=)
c.314-1023C>A (n.314-1023C>A)
c.236C>A
n.786C>A
n.753C>A
 dbSNP ExAC gnomAD v3 gnomAD v4
19g.11105542C=CA2322767560LDLRc.894C= (p.Ser298=)
c.636C= (p.Ser212=)
c.890C=
c.314-1850C= (n.314-1850C=)
c.513C= (p.Ser171=)
c.314-1023C= (n.314-1023C=)
c.236C=
n.786C=
n.753C=
19g.11105542C>GCA505743484LDLRc.894C>G (p.Ser298=)
c.636C>G (p.Ser212=)
c.890C>G
c.314-1850C>G (n.314-1850C>G)
c.513C>G (p.Ser171=)
c.314-1023C>G (n.314-1023C>G)
c.236C>G
n.786C>G
n.753C>G
19g.11105542C>TCA305296911LDLRc.894C>T (p.Ser298=)
c.636C>T (p.Ser212=)
c.890C>T
c.314-1850C>T (n.314-1850C>T)
c.513C>T (p.Ser171=)
c.314-1023C>T (n.314-1023C>T)
c.236C>T
n.786C>T
n.753C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11105549_11105550insATCCACTCAGCTGGCCA10585031LDLRc.901_902insATCCACTCAGCTGGC (p.Trp300_Arg301insHisProLeuSerTrp)
c.643_644insATCCACTCAGCTGGC (p.Trp214_Arg215insHisProLeuSerTrp)
c.897_898insATCCACTCAGCTGGC
c.314-1843_314-1842insATCCACTCAGCTGGC (n.314-1843_314-1842insATCCACTCAGCTGGC)
c.520_521insATCCACTCAGCTGGC (p.Trp173_Arg174insHisProLeuSerTrp)
c.314-1016_314-1015insATCCACTCAGCTGGC (n.314-1016_314-1015insATCCACTCAGCTGGC)
c.243_244insATCCACTCAGCTGGC
n.793_794insATCCACTCAGCTGGC
n.760_761insATCCACTCAGCTGGC
 ClinVar dbSNP
19g.11105543A>CCA404078095LDLRc.895A>C (p.Ser299Arg)
c.637A>C (p.Ser213Arg)
c.891A>C
c.314-1849A>C (n.314-1849A>C)
c.514A>C (p.Ser172Arg)
c.314-1022A>C (n.314-1022A>C)
c.237A>C
n.787A>C
n.754A>C
19g.11105543A>GCA404078087LDLRc.895A>G (p.Ser299Gly)
c.637A>G (p.Ser213Gly)
c.891A>G
c.314-1849A>G (n.314-1849A>G)
c.514A>G (p.Ser172Gly)
c.314-1022A>G (n.314-1022A>G)
c.237A>G
n.787A>G
n.754A>G
19g.11105543A>TCA404078090LDLRc.895A>T (p.Ser299Cys)
c.637A>T (p.Ser213Cys)
c.891A>T
c.314-1849A>T (n.314-1849A>T)
c.514A>T (p.Ser172Cys)
c.314-1022A>T (n.314-1022A>T)
c.237A>T
n.787A>T
n.754A>T
19g.11105544G>ACA404078099LDLRc.896G>A (p.Ser299Asn)
c.638G>A (p.Ser213Asn)
c.892G>A
c.314-1848G>A (n.314-1848G>A)
c.515G>A (p.Ser172Asn)
c.314-1021G>A (n.314-1021G>A)
c.238G>A
n.788G>A
n.755G>A
19g.11105544G>CCA10585027LDLRc.896G>C (p.Ser299Thr)
c.638G>C (p.Ser213Thr)
c.892G>C
c.314-1848G>C (n.314-1848G>C)
c.515G>C (p.Ser172Thr)
c.314-1021G>C (n.314-1021G>C)
c.238G>C
n.788G>C
n.755G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105544G=CA2322767561LDLRc.896G= (p.Ser299=)
c.638G= (p.Ser213=)
c.892G=
c.314-1848G= (n.314-1848G=)
c.515G= (p.Ser172=)
c.314-1021G= (n.314-1021G=)
c.238G=
n.788G=
n.755G=
19g.11105544G>TCA404078112LDLRc.896G>T (p.Ser299Ile)
c.638G>T (p.Ser213Ile)
c.892G>T
c.314-1848G>T (n.314-1848G>T)
c.515G>T (p.Ser172Ile)
c.314-1021G>T (n.314-1021G>T)
c.238G>T
n.788G>T
n.755G>T
 dbSNP gnomAD v2 gnomAD v4
19g.11105545C>ACA044176LDLRc.897C>A (p.Ser299Arg)
c.639C>A (p.Ser213Arg)
c.893C>A
c.314-1847C>A (n.314-1847C>A)
c.516C>A (p.Ser172Arg)
c.314-1020C>A (n.314-1020C>A)
c.239C>A
n.789C>A
n.756C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105545C=CA2322767562LDLRc.897C= (p.Ser299=)
c.639C= (p.Ser213=)
c.893C=
c.314-1847C= (n.314-1847C=)
c.516C= (p.Ser172=)
c.314-1020C= (n.314-1020C=)
c.239C=
n.789C=
n.756C=
19g.11105545C>GCA404078119LDLRc.897C>G (p.Ser299Arg)
c.639C>G (p.Ser213Arg)
c.893C>G
c.314-1847C>G (n.314-1847C>G)
c.516C>G (p.Ser172Arg)
c.314-1020C>G (n.314-1020C>G)
c.239C>G
n.789C>G
n.756C>G
 ClinVar dbSNP gnomAD v4
19g.11105545C>TCA505743486LDLRc.897C>T (p.Ser299=)
c.639C>T (p.Ser213=)
c.893C>T
c.314-1847C>T (n.314-1847C>T)
c.516C>T (p.Ser172=)
c.314-1020C>T (n.314-1020C>T)
c.239C>T
n.789C>T
n.756C>T
19g.11105546T>ACA404078136LDLRc.898T>A (p.Trp300Arg)
c.640T>A (p.Trp214Arg)
c.894T>A
c.314-1846T>A (n.314-1846T>A)
c.517T>A (p.Trp173Arg)
c.314-1019T>A (n.314-1019T>A)
c.240T>A
n.790T>A
n.757T>A
19g.11105546T>CCA404078139LDLRc.898T>C (p.Trp300Arg)
c.640T>C (p.Trp214Arg)
c.894T>C
c.314-1846T>C (n.314-1846T>C)
c.517T>C (p.Trp173Arg)
c.314-1019T>C (n.314-1019T>C)
c.240T>C
n.790T>C
n.757T>C
 ClinVar dbSNP
19g.11105546T>GCA404078142LDLRc.898T>G (p.Trp300Gly)
c.640T>G (p.Trp214Gly)
c.894T>G
c.314-1846T>G (n.314-1846T>G)
c.517T>G (p.Trp173Gly)
c.314-1019T>G (n.314-1019T>G)
c.240T>G
n.790T>G
n.757T>G
19g.11105546T=CA2322767563LDLRc.898T= (p.Trp300=)
c.640T= (p.Trp214=)
c.894T=
c.314-1846T= (n.314-1846T=)
c.517T= (p.Trp173=)
c.314-1019T= (n.314-1019T=)
c.240T=
n.790T=
n.757T=
19g.11105547G>ACA404078144LDLRc.899G>A (p.Trp300Ter)
c.641G>A (p.Trp214Ter)
c.895G>A
c.314-1845G>A (n.314-1845G>A)
c.518G>A (p.Trp173Ter)
c.314-1018G>A (n.314-1018G>A)
c.241G>A
n.791G>A
n.758G>A
 ClinVar dbSNP
19g.11105547G>CCA10585028LDLRc.899G>C (p.Trp300Ser)
c.641G>C (p.Trp214Ser)
c.895G>C
c.314-1845G>C (n.314-1845G>C)
c.518G>C (p.Trp173Ser)
c.314-1018G>C (n.314-1018G>C)
c.241G>C
n.791G>C
n.758G>C
 ClinVar dbSNP
19g.11105547G=CA2322767564LDLRc.899G= (p.Trp300=)
c.641G= (p.Trp214=)
c.895G=
c.314-1845G= (n.314-1845G=)
c.518G= (p.Trp173=)
c.314-1018G= (n.314-1018G=)
c.241G=
n.791G=
n.758G=
19g.11105547G>TCA404078149LDLRc.899G>T (p.Trp300Leu)
c.641G>T (p.Trp214Leu)
c.895G>T
c.314-1845G>T (n.314-1845G>T)
c.518G>T (p.Trp173Leu)
c.314-1018G>T (n.314-1018G>T)
c.241G>T
n.791G>T
n.758G>T
19g.11105548G>ACA10585029LDLRc.900G>A (p.Trp300Ter)
c.642G>A (p.Trp214Ter)
c.896G>A
c.314-1844G>A (n.314-1844G>A)
c.519G>A (p.Trp173Ter)
c.314-1017G>A (n.314-1017G>A)
c.242G>A
n.792G>A
n.759G>A
 ClinVar dbSNP
19g.11105548G>CCA404078156LDLRc.900G>C (p.Trp300Cys)
c.642G>C (p.Trp214Cys)
c.896G>C
c.314-1844G>C (n.314-1844G>C)
c.519G>C (p.Trp173Cys)
c.314-1017G>C (n.314-1017G>C)
c.242G>C
n.792G>C
n.759G>C
19g.11105548G=CA2322767565LDLRc.900G= (p.Trp300=)
c.642G= (p.Trp214=)
c.896G=
c.314-1844G= (n.314-1844G=)
c.519G= (p.Trp173=)
c.314-1017G= (n.314-1017G=)
c.242G=
n.792G=
n.759G=
19g.11105548G>TCA404078153LDLRc.900G>T (p.Trp300Cys)
c.642G>T (p.Trp214Cys)
c.896G>T
c.314-1844G>T (n.314-1844G>T)
c.519G>T (p.Trp173Cys)
c.314-1017G>T (n.314-1017G>T)
c.242G>T
n.792G>T
n.759G>T
19g.11105549C>ACA10585030LDLRc.901C>A (p.Arg301Ser)
c.643C>A (p.Arg215Ser)
c.897C>A
c.314-1843C>A (n.314-1843C>A)
c.520C>A (p.Arg174Ser)
c.314-1016C>A (n.314-1016C>A)
c.243C>A
n.793C>A
n.760C>A
 ClinVar dbSNP
19g.11105549C=CA2322767566LDLRc.901C= (p.Arg301=)
c.643C= (p.Arg215=)
c.897C=
c.314-1843C= (n.314-1843C=)
c.520C= (p.Arg174=)
c.314-1016C= (n.314-1016C=)
c.243C=
n.793C=
n.760C=
19g.11105549C>GCA404078163LDLRc.901C>G (p.Arg301Gly)
c.643C>G (p.Arg215Gly)
c.897C>G
c.314-1843C>G (n.314-1843C>G)
c.520C>G (p.Arg174Gly)
c.314-1016C>G (n.314-1016C>G)
c.243C>G
n.793C>G
n.760C>G
19g.11105549C>TCA044186LDLRc.901C>T (p.Arg301Cys)
c.643C>T (p.Arg215Cys)
c.897C>T
c.314-1843C>T (n.314-1843C>T)
c.520C>T (p.Arg174Cys)
c.314-1016C>T (n.314-1016C>T)
c.243C>T
n.793C>T
n.760C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105550G>ACA044194LDLRc.902G>A (p.Arg301His)
c.644G>A (p.Arg215His)
c.898G>A
c.314-1842G>A (n.314-1842G>A)
c.521G>A (p.Arg174His)
c.314-1015G>A (n.314-1015G>A)
c.244G>A
n.794G>A
n.761G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105550G>CCA404078173LDLRc.902G>C (p.Arg301Pro)
c.644G>C (p.Arg215Pro)
c.898G>C
c.314-1842G>C (n.314-1842G>C)
c.521G>C (p.Arg174Pro)
c.314-1015G>C (n.314-1015G>C)
c.244G>C
n.794G>C
n.761G>C
19g.11105550G=CA2322767567LDLRc.902G= (p.Arg301=)
c.644G= (p.Arg215=)
c.898G=
c.314-1842G= (n.314-1842G=)
c.521G= (p.Arg174=)
c.314-1015G= (n.314-1015G=)
c.244G=
n.794G=
n.761G=
19g.11105550G>TCA404078176LDLRc.902G>T (p.Arg301Leu)
c.644G>T (p.Arg215Leu)
c.898G>T
c.314-1842G>T (n.314-1842G>T)
c.521G>T (p.Arg174Leu)
c.314-1015G>T (n.314-1015G>T)
c.244G>T
n.794G>T
n.761G>T
 ClinVar dbSNP
19g.11105550_11105552delinsGCTCA2322767568LDLRc.902_904delinsGCT (p.Arg301=)
c.644_646delinsGCT (p.Arg215=)
c.898_900delinsGCT
c.314-1842_314-1840delinsGCT (n.314-1842_314-1840delinsGCT)
c.521_523delinsGCT (p.Arg174=)
c.314-1015_314-1013delinsGCT (n.314-1015_314-1013delinsGCT)
c.244_246delinsGCT
n.794_796delinsGCT
n.761_763delinsGCT
19g.11105551C>ACA505743489LDLRc.903C>A (p.Arg301=)
c.645C>A (p.Arg215=)
c.899C>A
c.314-1841C>A (n.314-1841C>A)
c.522C>A (p.Arg174=)
c.314-1014C>A (n.314-1014C>A)
c.245C>A
n.795C>A
n.762C>A
19g.11105551C>GCA505743490LDLRc.903C>G (p.Arg301=)
c.645C>G (p.Arg215=)
c.899C>G
c.314-1841C>G (n.314-1841C>G)
c.522C>G (p.Arg174=)
c.314-1014C>G (n.314-1014C>G)
c.245C>G
n.795C>G
n.762C>G
 gnomAD v4
19g.11105551C>TCA505743488LDLRc.903C>T (p.Arg301=)
c.645C>T (p.Arg215=)
c.899C>T
c.314-1841C>T (n.314-1841C>T)
c.522C>T (p.Arg174=)
c.314-1014C>T (n.314-1014C>T)
c.245C>T
n.795C>T
n.762C>T
 ClinVar
19g.11105551_11105552delCA10585032LDLRc.903_904del (p.Cys302Ter)
c.645_646del (p.Cys216Ter)
c.899_900del
c.314-1841_314-1840del (n.314-1841_314-1840del)
c.522_523del (p.Cys175Ter)
c.314-1014_314-1013del (n.314-1014_314-1013del)
c.245_246del
n.795_796del
n.762_763del
 ClinVar dbSNP
19g.11105551_11105552delinsCTCA2322767569LDLRc.903_904delinsCT (p.Arg301=)
c.645_646delinsCT (p.Arg215=)
c.899_900delinsCT
c.314-1841_314-1840delinsCT (n.314-1841_314-1840delinsCT)
c.522_523delinsCT (p.Arg174=)
c.314-1014_314-1013delinsCT (n.314-1014_314-1013delinsCT)
c.245_246delinsCT
n.795_796delinsCT
n.762_763delinsCT
19g.11105551_11105553delinsCTGCA2322767570LDLRc.903_905delinsCTG (p.Arg301=)
c.645_647delinsCTG (p.Arg215=)
c.899_901delinsCTG
c.314-1841_314-1839delinsCTG (n.314-1841_314-1839delinsCTG)
c.522_524delinsCTG (p.Arg174=)
c.314-1014_314-1012delinsCTG (n.314-1014_314-1012delinsCTG)
c.245_247delinsCTG
n.795_797delinsCTG
n.762_764delinsCTG
19g.11105554_11105571delCA2580096468LDLRc.906_923del (p.Asp303_Cys308del)
c.648_665del (p.Asp217_Cys222del)
c.902_919del
c.314-1838_314-1821del (n.314-1838_314-1821del)
c.525_542del (p.Asp176_Cys181del)
c.314-1011_314-994del (n.314-1011_314-994del)
c.248_265del
n.798_815del
n.765_782del
 ClinVar
19g.11105552delCA10585034LDLRc.904del (p.Cys302ValfsTer?)
c.646del (p.Cys216ValfsTer?)
c.900del
c.314-1840del (n.314-1840del)
c.523del (p.Cys175ValfsTer?)
c.314-1013del (n.314-1013del)
c.246del
n.796del
n.763del
 ClinVar dbSNP
19g.11105552T>ACA404078189LDLRc.904T>A (p.Cys302Ser)
c.646T>A (p.Cys216Ser)
c.900T>A
c.314-1840T>A (n.314-1840T>A)
c.523T>A (p.Cys175Ser)
c.314-1013T>A (n.314-1013T>A)
c.246T>A
n.796T>A
n.763T>A
19g.11105552T>CCA10585033LDLRc.904T>C (p.Cys302Arg)
c.646T>C (p.Cys216Arg)
c.900T>C
c.314-1840T>C (n.314-1840T>C)
c.523T>C (p.Cys175Arg)
c.314-1013T>C (n.314-1013T>C)
c.246T>C
n.796T>C
n.763T>C
 ClinVar dbSNP
19g.11105552T>GCA404078187LDLRc.904T>G (p.Cys302Gly)
c.646T>G (p.Cys216Gly)
c.900T>G
c.314-1840T>G (n.314-1840T>G)
c.523T>G (p.Cys175Gly)
c.314-1013T>G (n.314-1013T>G)
c.246T>G
n.796T>G
n.763T>G
19g.11105552T=CA2322767571LDLRc.904T= (p.Cys302=)
c.646T= (p.Cys216=)
c.900T=
c.314-1840T= (n.314-1840T=)
c.523T= (p.Cys175=)
c.314-1013T= (n.314-1013T=)
c.246T=
n.796T=
n.763T=
19g.11105554_11105555delCA10585037LDLRc.906_907del (p.Cys302Ter)
c.648_649del (p.Cys216Ter)
c.902_903del
c.314-1838_314-1837del (n.314-1838_314-1837del)
c.525_526del (p.Cys175Ter)
c.314-1011_314-1010del (n.314-1011_314-1010del)
c.248_249del
n.798_799del
n.765_766del
 ClinVar dbSNP
19g.11105552_11105561delinsTGTGATGGTGCA2322767572LDLRc.904_913delinsTGTGATGGTG (p.Cys302=)
c.646_655delinsTGTGATGGTG (p.Cys216=)
c.900_909delinsTGTGATGGTG
c.314-1840_314-1831delinsTGTGATGGTG (n.314-1840_314-1831delinsTGTGATGGTG)
c.523_532delinsTGTGATGGTG (p.Cys175=)
c.314-1013_314-1004delinsTGTGATGGTG (n.314-1013_314-1004delinsTGTGATGGTG)
c.246_255delinsTGTGATGGTG
n.796_805delinsTGTGATGGTG
n.763_772delinsTGTGATGGTG
19g.11105553G>ACA10585035LDLRc.905G>A (p.Cys302Tyr)
c.647G>A (p.Cys216Tyr)
c.901G>A
c.314-1839G>A (n.314-1839G>A)
c.524G>A (p.Cys175Tyr)
c.314-1012G>A (n.314-1012G>A)
c.247G>A
n.797G>A
n.764G>A
 ClinVar dbSNP gnomAD v4
19g.11105553G>CCA404078197LDLRc.905G>C (p.Cys302Ser)
c.647G>C (p.Cys216Ser)
c.901G>C
c.314-1839G>C (n.314-1839G>C)
c.524G>C (p.Cys175Ser)
c.314-1012G>C (n.314-1012G>C)
c.247G>C
n.797G>C
n.764G>C
19g.11105553G=CA2322767573LDLRc.905G= (p.Cys302=)
c.647G= (p.Cys216=)
c.901G=
c.314-1839G= (n.314-1839G=)
c.524G= (p.Cys175=)
c.314-1012G= (n.314-1012G=)
c.247G=
n.797G=
n.764G=
19g.11105553G>TCA10585036LDLRc.905G>T (p.Cys302Phe)
c.647G>T (p.Cys216Phe)
c.901G>T
c.314-1839G>T (n.314-1839G>T)
c.524G>T (p.Cys175Phe)
c.314-1012G>T (n.314-1012G>T)
c.247G>T
n.797G>T
n.764G>T
 ClinVar dbSNP
19g.11105556_11105561dupCA10585040LDLRc.908_913dup (p.Gly304_Gly305insAspGly)
c.650_655dup (p.Gly218_Gly219insAspGly)
c.904_909dup
c.314-1836_314-1831dup (n.314-1836_314-1831dup)
c.527_532dup (p.Gly177_Gly178insAspGly)
c.314-1009_314-1004dup (n.314-1009_314-1004dup)
c.250_255dup
n.800_805dup
n.767_772dup
 dbSNP
19g.[11105556_11105561dup;11105563_11105567del]CA645373227LDLRc.[908_913dup;915_919del] (p.[Gly304_Gly305insAspGly;Gly305=])
c.[650_655dup;657_661del] (p.[Gly218_Gly219insAspGly;Gly219=])
c.[904_909dup;911_915del]
c.[314-1836_314-1831dup;314-1829_314-1825del] (n.[314-1836_314-1831dup;314-1829_314-1825del])
c.[527_532dup;534_538del] (p.[Gly177_Gly178insAspGly;Gly178=])
c.[314-1009_314-1004dup;314-1002_314-998del] (n.[314-1009_314-1004dup;314-1002_314-998del])
c.[250_255dup;257_261del]
n.[800_805dup;807_811del]
n.[767_772dup;774_778del]
 ClinVar
19g.11105554_11105562delCA10585038LDLRc.906_914del (p.Asp303_Gly305del)
c.648_656del (p.Asp217_Gly219del)
c.902_910del
c.314-1838_314-1830del (n.314-1838_314-1830del)
c.525_533del (p.Asp176_Gly178del)
c.314-1011_314-1003del (n.314-1011_314-1003del)
c.248_256del
n.798_806del
n.765_773del
 ClinVar dbSNP
19g.11105554T>ACA404078210LDLRc.906T>A (p.Cys302Ter)
c.648T>A (p.Cys216Ter)
c.902T>A
c.314-1838T>A (n.314-1838T>A)
c.525T>A (p.Cys175Ter)
c.314-1011T>A (n.314-1011T>A)
c.248T>A
n.798T>A
n.765T>A
19g.11105554T>CCA505743494LDLRc.906T>C (p.Cys302=)
c.648T>C (p.Cys216=)
c.902T>C
c.314-1838T>C (n.314-1838T>C)
c.525T>C (p.Cys175=)
c.314-1011T>C (n.314-1011T>C)
c.248T>C
n.798T>C
n.765T>C
19g.11105554T>GCA404078213LDLRc.906T>G (p.Cys302Trp)
c.648T>G (p.Cys216Trp)
c.902T>G
c.314-1838T>G (n.314-1838T>G)
c.525T>G (p.Cys175Trp)
c.314-1011T>G (n.314-1011T>G)
c.248T>G
n.798T>G
n.765T>G
19g.11105554dupCA10576285LDLRc.906dup (p.Asp303Ter)
c.648dup (p.Asp217Ter)
c.902dup
c.314-1838dup (n.314-1838dup)
c.525dup (p.Asp176Ter)
c.314-1011dup (n.314-1011dup)
c.248dup
n.798dup
n.765dup
 ClinVar dbSNP gnomAD v4
19g.11105556_11105558delCA2573050578LDLRc.908_910del (p.Asp303del)
c.650_652del (p.Asp217del)
c.904_906del
c.314-1836_314-1834del (n.314-1836_314-1834del)
c.527_529del (p.Asp176del)
c.314-1009_314-1007del (n.314-1009_314-1007del)
c.250_252del
n.800_802del
n.767_769del
19g.11105555G>ACA404078217LDLRc.907G>A (p.Asp303Asn)
c.649G>A (p.Asp217Asn)
c.903G>A
c.314-1837G>A (n.314-1837G>A)
c.526G>A (p.Asp176Asn)
c.314-1010G>A (n.314-1010G>A)
c.249G>A
n.799G>A
n.766G>A
 gnomAD v4
19g.11105555G>CCA404078219LDLRc.907G>C (p.Asp303His)
c.649G>C (p.Asp217His)
c.903G>C
c.314-1837G>C (n.314-1837G>C)
c.526G>C (p.Asp176His)
c.314-1010G>C (n.314-1010G>C)
c.249G>C
n.799G>C
n.766G>C
19g.11105555G=CA2322767574LDLRc.907G= (p.Asp303=)
c.649G= (p.Asp217=)
c.903G=
c.314-1837G= (n.314-1837G=)
c.526G= (p.Asp176=)
c.314-1010G= (n.314-1010G=)
c.249G=
n.799G=
n.766G=
19g.11105555G>TCA404078222LDLRc.907G>T (p.Asp303Tyr)
c.649G>T (p.Asp217Tyr)
c.903G>T
c.314-1837G>T (n.314-1837G>T)
c.526G>T (p.Asp176Tyr)
c.314-1010G>T (n.314-1010G>T)
c.249G>T
n.799G>T
n.766G>T
19g.11105557_11105568delCA2695223206LDLRc.909_920del (p.Gly304_Asp307del)
c.651_662del (p.Gly218_Asp221del)
c.905_916del
c.314-1835_314-1824del (n.314-1835_314-1824del)
c.528_539del (p.Gly177_Asp180del)
c.314-1008_314-997del (n.314-1008_314-997del)
c.251_262del
n.801_812del
n.768_779del
19g.11105555_11105592delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGACA2322767575LDLRc.907_944delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (p.Asp303=)
c.649_686delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (p.Asp217=)
c.903_940delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA
c.314-1837_314-1800delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (n.314-1837_314-1800delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA)
c.526_563delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (p.Asp176=)
c.314-1010_314-973delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (n.314-1010_314-973delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA)
c.249_286delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA
n.799_836delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA
n.766_803delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA
19g.11105555_11105556insTCA10585039LDLRc.907_908insT (p.Asp303ValfsTer11)
c.649_650insT (p.Asp217ValfsTer11)
c.903_904insT
c.314-1837_314-1836insT (n.314-1837_314-1836insT)
c.526_527insT (p.Asp176ValfsTer11)
c.314-1010_314-1009insT (n.314-1010_314-1009insT)
c.249_250insT
n.799_800insT
n.766_767insT
 ClinVar dbSNP
19g.11105556A=CA2322767577LDLRc.908A= (p.Asp303=)
c.650A= (p.Asp217=)
c.904A=
c.314-1836A= (n.314-1836A=)
c.527A= (p.Asp176=)
c.314-1009A= (n.314-1009A=)
c.250A=
n.800A=
n.767A=
19g.11105556A>CCA404078232LDLRc.908A>C (p.Asp303Ala)
c.650A>C (p.Asp217Ala)
c.904A>C
c.314-1836A>C (n.314-1836A>C)
c.527A>C (p.Asp176Ala)
c.314-1009A>C (n.314-1009A>C)
c.250A>C
n.800A>C
n.767A>C
19g.11105556A>GCA404078230LDLRc.908A>G (p.Asp303Gly)
c.650A>G (p.Asp217Gly)
c.904A>G
c.314-1836A>G (n.314-1836A>G)
c.527A>G (p.Asp176Gly)
c.314-1009A>G (n.314-1009A>G)
c.250A>G
n.800A>G
n.767A>G
 ClinVar dbSNP
19g.11105556A>TCA404078226LDLRc.908A>T (p.Asp303Val)
c.650A>T (p.Asp217Val)
c.904A>T
c.314-1836A>T (n.314-1836A>T)
c.527A>T (p.Asp176Val)
c.314-1009A>T (n.314-1009A>T)
c.250A>T
n.800A>T
n.767A>T
 ClinVar dbSNP
19g.11105556_11105559delinsATGGCA2322767576LDLRc.908_911delinsATGG (p.Asp303=)
c.650_653delinsATGG (p.Asp217=)
c.904_907delinsATGG
c.314-1836_314-1833delinsATGG (n.314-1836_314-1833delinsATGG)
c.527_530delinsATGG (p.Asp176=)
c.314-1009_314-1006delinsATGG (n.314-1009_314-1006delinsATGG)
c.250_253delinsATGG
n.800_803delinsATGG
n.767_770delinsATGG
19g.11105557_11105593delCA10585041LDLRc.909_945del (p.Asp303GlufsTer?)
c.651_687del (p.Asp217GlufsTer?)
c.905_941del
c.314-1835_314-1799del (n.314-1835_314-1799del)
c.528_564del (p.Asp176GlufsTer?)
c.314-1008_314-972del (n.314-1008_314-972del)
c.251_287del
n.801_837del
n.768_804del
 ClinVar dbSNP
19g.11105557T>ACA404078242LDLRc.909T>A (p.Asp303Glu)
c.651T>A (p.Asp217Glu)
c.905T>A
c.314-1835T>A (n.314-1835T>A)
c.528T>A (p.Asp176Glu)
c.314-1008T>A (n.314-1008T>A)
c.251T>A
n.801T>A
n.768T>A
19g.11105557T>CCA044218LDLRc.909T>C (p.Asp303=)
c.651T>C (p.Asp217=)
c.905T>C
c.314-1835T>C (n.314-1835T>C)
c.528T>C (p.Asp176=)
c.314-1008T>C (n.314-1008T>C)
c.251T>C
n.801T>C
n.768T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105557T>GCA404078250LDLRc.909T>G (p.Asp303Glu)
c.651T>G (p.Asp217Glu)
c.905T>G
c.314-1835T>G (n.314-1835T>G)
c.528T>G (p.Asp176Glu)
c.314-1008T>G (n.314-1008T>G)
c.251T>G
n.801T>G
n.768T>G
19g.11105557T=CA2322767579LDLRc.909T= (p.Asp303=)
c.651T= (p.Asp217=)
c.905T=
c.314-1835T= (n.314-1835T=)
c.528T= (p.Asp176=)
c.314-1008T= (n.314-1008T=)
c.251T=
n.801T=
n.768T=
19g.11105557_11105558delinsTGCA2322767578LDLRc.909_910delinsTG (p.Asp303=)
c.651_652delinsTG (p.Asp217=)
c.905_906delinsTG
c.314-1835_314-1834delinsTG (n.314-1835_314-1834delinsTG)
c.528_529delinsTG (p.Asp176=)
c.314-1008_314-1007delinsTG (n.314-1008_314-1007delinsTG)
c.251_252delinsTG
n.801_802delinsTG
n.768_769delinsTG
19g.11105560_11105562dupCA2582473158LDLRc.912_914dup (p.Gly305_Pro306insGly)
c.654_656dup (p.Gly219_Pro220insGly)
c.908_910dup
c.314-1832_314-1830dup (n.314-1832_314-1830dup)
c.531_533dup (p.Gly178_Pro179insGly)
c.314-1005_314-1003dup (n.314-1005_314-1003dup)
c.254_256dup
n.804_806dup
n.771_773dup
 gnomAD v4
19g.11105560_11105562delCA023734LDLRc.912_914del (p.Gly305del)
c.654_656del (p.Gly219del)
c.908_910del
c.314-1832_314-1830del (n.314-1832_314-1830del)
c.531_533del (p.Gly178del)
c.314-1005_314-1003del (n.314-1005_314-1003del)
c.254_256del
n.804_806del
n.771_773del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105558G>ACA404078257LDLRc.910G>A (p.Gly304Ser)
c.652G>A (p.Gly218Ser)
c.906G>A
c.314-1834G>A (n.314-1834G>A)
c.529G>A (p.Gly177Ser)
c.314-1007G>A (n.314-1007G>A)
c.252G>A
n.802G>A
n.769G>A
19g.11105558G>CCA404078259LDLRc.910G>C (p.Gly304Arg)
c.652G>C (p.Gly218Arg)
c.906G>C
c.314-1834G>C (n.314-1834G>C)
c.529G>C (p.Gly177Arg)
c.314-1007G>C (n.314-1007G>C)
c.252G>C
n.802G>C
n.769G>C
19g.11105558G>TCA404078263LDLRc.910G>T (p.Gly304Cys)
c.652G>T (p.Gly218Cys)
c.906G>T
c.314-1834G>T (n.314-1834G>T)
c.529G>T (p.Gly177Cys)
c.314-1007G>T (n.314-1007G>T)
c.252G>T
n.802G>T
n.769G>T
19g.11105559delCA023735LDLRc.911del (p.Gly304ValfsTer?)
c.653del (p.Gly218ValfsTer?)
c.907del
c.314-1833del (n.314-1833del)
c.530del (p.Gly177ValfsTer?)
c.314-1006del (n.314-1006del)
c.253del
n.803del
n.770del
 ClinVar dbSNP gnomAD v4
19g.11105559G>ACA404078270LDLRc.911G>A (p.Gly304Asp)
c.653G>A (p.Gly218Asp)
c.907G>A
c.314-1833G>A (n.314-1833G>A)
c.530G>A (p.Gly177Asp)
c.314-1006G>A (n.314-1006G>A)
c.253G>A
n.803G>A
n.770G>A
19g.11105559G>CCA404078271LDLRc.911G>C (p.Gly304Ala)
c.653G>C (p.Gly218Ala)
c.907G>C
c.314-1833G>C (n.314-1833G>C)
c.530G>C (p.Gly177Ala)
c.314-1006G>C (n.314-1006G>C)
c.253G>C
n.803G>C
n.770G>C
 dbSNP gnomAD v2 gnomAD v4
19g.11105559G=CA2322767580LDLRc.911G= (p.Gly304=)
c.653G= (p.Gly218=)
c.907G=
c.314-1833G= (n.314-1833G=)
c.530G= (p.Gly177=)
c.314-1006G= (n.314-1006G=)
c.253G=
n.803G=
n.770G=
19g.11105559G>TCA404078274LDLRc.911G>T (p.Gly304Val)
c.653G>T (p.Gly218Val)
c.907G>T
c.314-1833G>T (n.314-1833G>T)
c.530G>T (p.Gly177Val)
c.314-1006G>T (n.314-1006G>T)
c.253G>T
n.803G>T
n.770G>T
19g.11105560_11105561delCA2695223207LDLRc.912_913del (p.Gly305ProfsTer8)
c.654_655del (p.Gly219ProfsTer8)
c.908_909del
c.314-1832_314-1831del (n.314-1832_314-1831del)
c.531_532del (p.Gly178ProfsTer8)
c.314-1005_314-1004del (n.314-1005_314-1004del)
c.254_255del
n.804_805del
n.771_772del
19g.11105560_11105588delCA2695223208LDLRc.912_940del (p.Pro306LysfsTer10)
c.654_682del (p.Pro220LysfsTer10)
c.908_936del
c.314-1832_314-1804del (n.314-1832_314-1804del)
c.531_559del (p.Pro179LysfsTer10)
c.314-1005_314-977del (n.314-1005_314-977del)
c.254_282del
n.804_832del
n.771_799del
19g.11105560T>ACA505743501LDLRc.912T>A (p.Gly304=)
c.654T>A (p.Gly218=)
c.908T>A
c.314-1832T>A (n.314-1832T>A)
c.531T>A (p.Gly177=)
c.314-1005T>A (n.314-1005T>A)
c.254T>A
n.804T>A
n.771T>A
19g.11105560T>CCA505743502LDLRc.912T>C (p.Gly304=)
c.654T>C (p.Gly218=)
c.908T>C
c.314-1832T>C (n.314-1832T>C)
c.531T>C (p.Gly177=)
c.314-1005T>C (n.314-1005T>C)
c.254T>C
n.804T>C
n.771T>C
 gnomAD v4
19g.11105560T>GCA505743503LDLRc.912T>G (p.Gly304=)
c.654T>G (p.Gly218=)
c.908T>G
c.314-1832T>G (n.314-1832T>G)
c.531T>G (p.Gly177=)
c.314-1005T>G (n.314-1005T>G)
c.254T>G
n.804T>G
n.771T>G
19g.11105560_11105563delinsTGGCCA2322767581LDLRc.912_915delinsTGGC (p.Gly304=)
c.654_657delinsTGGC (p.Gly218=)
c.908_911delinsTGGC
c.314-1832_314-1829delinsTGGC (n.314-1832_314-1829delinsTGGC)
c.531_534delinsTGGC (p.Gly177=)
c.314-1005_314-1002delinsTGGC (n.314-1005_314-1002delinsTGGC)
c.254_257delinsTGGC
n.804_807delinsTGGC
n.771_774delinsTGGC
19g.11105560_11105566delinsTGGCCCCCA2322767582LDLRc.912_918delinsTGGCCCC (p.Gly304=)
c.654_660delinsTGGCCCC (p.Gly218=)
c.908_914delinsTGGCCCC
c.314-1832_314-1826delinsTGGCCCC (n.314-1832_314-1826delinsTGGCCCC)
c.531_537delinsTGGCCCC (p.Gly177=)
c.314-1005_314-999delinsTGGCCCC (n.314-1005_314-999delinsTGGCCCC)
c.254_260delinsTGGCCCC
n.804_810delinsTGGCCCC
n.771_777delinsTGGCCCC
19g.11105561G>ACA404078290LDLRc.913G>A (p.Gly305Ser)
c.655G>A (p.Gly219Ser)
c.909G>A
c.314-1831G>A (n.314-1831G>A)
c.532G>A (p.Gly178Ser)
c.314-1004G>A (n.314-1004G>A)
c.255G>A
n.805G>A
n.772G>A
19g.11105561G>CCA404078285LDLRc.913G>C (p.Gly305Arg)
c.655G>C (p.Gly219Arg)
c.909G>C
c.314-1831G>C (n.314-1831G>C)
c.532G>C (p.Gly178Arg)
c.314-1004G>C (n.314-1004G>C)
c.255G>C
n.805G>C
n.772G>C
19g.11105561G>TCA404078288LDLRc.913G>T (p.Gly305Cys)
c.655G>T (p.Gly219Cys)
c.909G>T
c.314-1831G>T (n.314-1831G>T)
c.532G>T (p.Gly178Cys)
c.314-1004G>T (n.314-1004G>T)
c.255G>T
n.805G>T
n.772G>T
 gnomAD v4
19g.11105561_11105563delCA10585042LDLRc.913_915del (p.Gly305del)
c.655_657del (p.Gly219del)
c.909_911del
c.314-1831_314-1829del (n.314-1831_314-1829del)
c.532_534del (p.Gly178del)
c.314-1004_314-1002del (n.314-1004_314-1002del)
c.255_257del
n.805_807del
n.772_774del
 ClinVar dbSNP
19g.11105561_11105566delinsGGCCCCCA2322767583LDLRc.913_918delinsGGCCCC (p.Gly305=)
c.655_660delinsGGCCCC (p.Gly219=)
c.909_914delinsGGCCCC
c.314-1831_314-1826delinsGGCCCC (n.314-1831_314-1826delinsGGCCCC)
c.532_537delinsGGCCCC (p.Gly178=)
c.314-1004_314-999delinsGGCCCC (n.314-1004_314-999delinsGGCCCC)
c.255_260delinsGGCCCC
n.805_810delinsGGCCCC
n.772_777delinsGGCCCC
19g.11105562_11105567delCA10585043LDLRc.914_919del (p.Gly305_Pro306del)
c.656_661del (p.Gly219_Pro220del)
c.910_915del
c.314-1830_314-1825del (n.314-1830_314-1825del)
c.533_538del (p.Gly178_Pro179del)
c.314-1003_314-998del (n.314-1003_314-998del)
c.256_261del
n.806_811del
n.773_778del
 ClinVar dbSNP gnomAD v4
19g.11105562G>ACA023738LDLRc.914G>A (p.Gly305Asp)
c.656G>A (p.Gly219Asp)
c.910G>A
c.314-1830G>A (n.314-1830G>A)
c.533G>A (p.Gly178Asp)
c.314-1003G>A (n.314-1003G>A)
c.256G>A
n.806G>A
n.773G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105562G>CCA404078295LDLRc.914G>C (p.Gly305Ala)
c.656G>C (p.Gly219Ala)
c.910G>C
c.314-1830G>C (n.314-1830G>C)
c.533G>C (p.Gly178Ala)
c.314-1003G>C (n.314-1003G>C)
c.256G>C
n.806G>C
n.773G>C
19g.11105562G=CA2322767586LDLRc.914G= (p.Gly305=)
c.656G= (p.Gly219=)
c.910G=
c.314-1830G= (n.314-1830G=)
c.533G= (p.Gly178=)
c.314-1003G= (n.314-1003G=)
c.256G=
n.806G=
n.773G=
19g.11105562G>TCA404078297LDLRc.914G>T (p.Gly305Val)
c.656G>T (p.Gly219Val)
c.910G>T
c.314-1830G>T (n.314-1830G>T)
c.533G>T (p.Gly178Val)
c.314-1003G>T (n.314-1003G>T)
c.256G>T
n.806G>T
n.773G>T
19g.11105562_11105563delinsGCCA2322767585LDLRc.914_915delinsGC (p.Gly305=)
c.656_657delinsGC (p.Gly219=)
c.910_911delinsGC
c.314-1830_314-1829delinsGC (n.314-1830_314-1829delinsGC)
c.533_534delinsGC (p.Gly178=)
c.314-1003_314-1002delinsGC (n.314-1003_314-1002delinsGC)
c.256_257delinsGC
n.806_807delinsGC
n.773_774delinsGC
19g.11105563_11105567dupCA10585045LDLRc.915_919dup (p.Asp307AlafsTer?)
c.657_661dup (p.Asp221AlafsTer?)
c.911_915dup
c.314-1829_314-1825dup (n.314-1829_314-1825dup)
c.534_538dup (p.Asp180AlafsTer?)
c.314-1002_314-998dup (n.314-1002_314-998dup)
c.257_261dup
n.807_811dup
n.774_778dup
 ClinVar dbSNP
19g.11105563_11105567delCA10585044LDLRc.915_919del (p.Pro306LeufsTer6)
c.657_661del (p.Pro220LeufsTer6)
c.911_915del
c.314-1829_314-1825del (n.314-1829_314-1825del)
c.534_538del (p.Pro179LeufsTer6)
c.314-1002_314-998del (n.314-1002_314-998del)
c.257_261del
n.807_811del
n.774_778del
 dbSNP
19g.11105562_11105568delinsGCCCCGACA2322767584LDLRc.914_920delinsGCCCCGA (p.Gly305=)
c.656_662delinsGCCCCGA (p.Gly219=)
c.910_916delinsGCCCCGA
c.314-1830_314-1824delinsGCCCCGA (n.314-1830_314-1824delinsGCCCCGA)
c.533_539delinsGCCCCGA (p.Gly178=)
c.314-1003_314-997delinsGCCCCGA (n.314-1003_314-997delinsGCCCCGA)
c.256_262delinsGCCCCGA
n.806_812delinsGCCCCGA
n.773_779delinsGCCCCGA
19g.11105563C>ACA505743505LDLRc.915C>A (p.Gly305=)
c.657C>A (p.Gly219=)
c.911C>A
c.314-1829C>A (n.314-1829C>A)
c.534C>A (p.Gly178=)
c.314-1002C>A (n.314-1002C>A)
c.257C>A
n.807C>A
n.774C>A
 gnomAD v4
19g.11105563C=CA2322767587LDLRc.915C= (p.Gly305=)
c.657C= (p.Gly219=)
c.911C=
c.314-1829C= (n.314-1829C=)
c.534C= (p.Gly178=)
c.314-1002C= (n.314-1002C=)
c.257C=
n.807C=
n.774C=
19g.11105563C>GCA305296930LDLRc.915C>G (p.Gly305=)
c.657C>G (p.Gly219=)
c.911C>G
c.314-1829C>G (n.314-1829C>G)
c.534C>G (p.Gly178=)
c.314-1002C>G (n.314-1002C>G)
c.257C>G
n.807C>G
n.774C>G
 ClinVar dbSNP
19g.11105563C>TCA505743504LDLRc.915C>T (p.Gly305=)
c.657C>T (p.Gly219=)
c.911C>T
c.314-1829C>T (n.314-1829C>T)
c.534C>T (p.Gly178=)
c.314-1002C>T (n.314-1002C>T)
c.257C>T
n.807C>T
n.774C>T
 ClinVar dbSNP
19g.11105563_11105566delinsATGGTCA2573050579LDLRc.915_918delinsATGGT (p.Pro306TrpfsTer2)
c.657_660delinsATGGT (p.Pro220TrpfsTer2)
c.911_914delinsATGGT
c.314-1829_314-1826delinsATGGT (n.314-1829_314-1826delinsATGGT)
c.534_537delinsATGGT (p.Pro179TrpfsTer2)
c.314-1002_314-999delinsATGGT (n.314-1002_314-999delinsATGGT)
c.257_260delinsATGGT
n.807_810delinsATGGT
n.774_777delinsATGGT
19g.11105566delCA10576286LDLRc.918del (p.Asp307ThrfsTer?)
c.660del (p.Asp221ThrfsTer?)
c.914del
c.314-1826del (n.314-1826del)
c.537del (p.Asp180ThrfsTer?)
c.314-999del (n.314-999del)
c.260del
n.810del
n.777del
 ClinVar dbSNP
19g.11105564_11105569delCA645509262LDLRc.916_921del (p.Pro306_Asp307del)
c.658_663del (p.Pro220_Asp221del)
c.912_917del
c.314-1828_314-1823del (n.314-1828_314-1823del)
c.535_540del (p.Pro179_Asp180del)
c.314-1001_314-996del (n.314-1001_314-996del)
c.258_263del
n.808_813del
n.775_780del
 ClinVar dbSNP
19g.11105564C>ACA404078311LDLRc.916C>A (p.Pro306Thr)
c.658C>A (p.Pro220Thr)
c.912C>A
c.314-1828C>A (n.314-1828C>A)
c.535C>A (p.Pro179Thr)
c.314-1001C>A (n.314-1001C>A)
c.258C>A
n.808C>A
n.775C>A
19g.11105564C=CA2322767588LDLRc.916C= (p.Pro306=)
c.658C= (p.Pro220=)
c.912C=
c.314-1828C= (n.314-1828C=)
c.535C= (p.Pro179=)
c.314-1001C= (n.314-1001C=)
c.258C=
n.808C=
n.775C=
19g.11105564C>GCA404078308LDLRc.916C>G (p.Pro306Ala)
c.658C>G (p.Pro220Ala)
c.912C>G
c.314-1828C>G (n.314-1828C>G)
c.535C>G (p.Pro179Ala)
c.314-1001C>G (n.314-1001C>G)
c.258C>G
n.808C>G
n.775C>G
19g.11105564C>TCA404078305LDLRc.916C>T (p.Pro306Ser)
c.658C>T (p.Pro220Ser)
c.912C>T
c.314-1828C>T (n.314-1828C>T)
c.535C>T (p.Pro179Ser)
c.314-1001C>T (n.314-1001C>T)
c.258C>T
n.808C>T
n.775C>T
 ClinVar dbSNP gnomAD v4
19g.11105564_11105565delinsTGTGATGGCA2580096472LDLRc.916_917delinsTGTGATGG (p.Pro306delinsCysAspGly)
c.658_659delinsTGTGATGG (p.Pro220delinsCysAspGly)
c.912_913delinsTGTGATGG
c.314-1828_314-1827delinsTGTGATGG (n.314-1828_314-1827delinsTGTGATGG)
c.535_536delinsTGTGATGG (p.Pro179delinsCysAspGly)
c.314-1001_314-1000delinsTGTGATGG (n.314-1001_314-1000delinsTGTGATGG)
c.258_259delinsTGTGATGG
n.808_809delinsTGTGATGG
n.775_776delinsTGTGATGG
 ClinVar
19g.11105565C>ACA404078315LDLRc.917C>A (p.Pro306His)
c.659C>A (p.Pro220His)
c.913C>A
c.314-1827C>A (n.314-1827C>A)
c.536C>A (p.Pro179His)
c.314-1000C>A (n.314-1000C>A)
c.259C>A
n.809C>A
n.776C>A
19g.11105565C=CA2322767590LDLRc.917C= (p.Pro306=)
c.659C= (p.Pro220=)
c.913C=
c.314-1827C= (n.314-1827C=)
c.536C= (p.Pro179=)
c.314-1000C= (n.314-1000C=)
c.259C=
n.809C=
n.776C=
19g.11105565C>GCA404078318LDLRc.917C>G (p.Pro306Arg)
c.659C>G (p.Pro220Arg)
c.913C>G
c.314-1827C>G (n.314-1827C>G)
c.536C>G (p.Pro179Arg)
c.314-1000C>G (n.314-1000C>G)
c.259C>G
n.809C>G
n.776C>G
 gnomAD v4
19g.11105565C>TCA404078321LDLRc.917C>T (p.Pro306Leu)
c.659C>T (p.Pro220Leu)
c.913C>T
c.314-1827C>T (n.314-1827C>T)
c.536C>T (p.Pro179Leu)
c.314-1000C>T (n.314-1000C>T)
c.259C>T
n.809C>T
n.776C>T
 dbSNP gnomAD v3 gnomAD v4
19g.11105566_11105572dupCA16602304LDLRc.918_924dup (p.Lys309ArgfsTer7)
c.660_666dup (p.Lys223ArgfsTer7)
c.914_920dup
c.314-1826_314-1820dup (n.314-1826_314-1820dup)
c.537_543dup (p.Lys182ArgfsTer7)
c.314-999_314-993dup (n.314-999_314-993dup)
c.260_266dup
n.810_816dup
n.777_783dup
 ClinVar dbSNP
19g.11105565_11105582delinsCCGACTGCAAGGACAAATCA2322767589LDLRc.917_934delinsCCGACTGCAAGGACAAAT (p.Pro306=)
c.659_676delinsCCGACTGCAAGGACAAAT (p.Pro220=)
c.913_930delinsCCGACTGCAAGGACAAAT
c.314-1827_314-1810delinsCCGACTGCAAGGACAAAT (n.314-1827_314-1810delinsCCGACTGCAAGGACAAAT)
c.536_553delinsCCGACTGCAAGGACAAAT (p.Pro179=)
c.314-1000_314-983delinsCCGACTGCAAGGACAAAT (n.314-1000_314-983delinsCCGACTGCAAGGACAAAT)
c.259_276delinsCCGACTGCAAGGACAAAT
n.809_826delinsCCGACTGCAAGGACAAAT
n.776_793delinsCCGACTGCAAGGACAAAT
19g.11105566C>ACA505743506LDLRc.918C>A (p.Pro306=)
c.660C>A (p.Pro220=)
c.914C>A
c.314-1826C>A (n.314-1826C>A)
c.537C>A (p.Pro179=)
c.314-999C>A (n.314-999C>A)
c.260C>A
n.810C>A
n.777C>A
 dbSNP gnomAD v4
19g.11105566C=CA2322767592LDLRc.918C= (p.Pro306=)
c.660C= (p.Pro220=)
c.914C=
c.314-1826C= (n.314-1826C=)
c.537C= (p.Pro179=)
c.314-999C= (n.314-999C=)
c.260C=
n.810C=
n.777C=
19g.11105566C>GCA505743507LDLRc.918C>G (p.Pro306=)
c.660C>G (p.Pro220=)
c.914C>G
c.314-1826C>G (n.314-1826C>G)
c.537C>G (p.Pro179=)
c.314-999C>G (n.314-999C>G)
c.260C>G
n.810C>G
n.777C>G
 gnomAD v4
19g.11105566C>TCA044242LDLRc.918C>T (p.Pro306=)
c.660C>T (p.Pro220=)
c.914C>T
c.314-1826C>T (n.314-1826C>T)
c.537C>T (p.Pro179=)
c.314-999C>T (n.314-999C>T)
c.260C>T
n.810C>T
n.777C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105566_11105567delinsCGCA2322767591LDLRc.918_919delinsCG (p.Pro306=)
c.660_661delinsCG (p.Pro220=)
c.914_915delinsCG
c.314-1826_314-1825delinsCG (n.314-1826_314-1825delinsCG)
c.537_538delinsCG (p.Pro179=)
c.314-999_314-998delinsCG (n.314-999_314-998delinsCG)
c.260_261delinsCG
n.810_811delinsCG
n.777_778delinsCG
19g.11105567_11105569delCA2497030142LDLRc.919_921del (p.Asp307del)
c.661_663del (p.Asp221del)
c.915_917del
c.314-1825_314-1823del (n.314-1825_314-1823del)
c.538_540del (p.Asp180del)
c.314-998_314-996del (n.314-998_314-996del)
c.261_263del
n.811_813del
n.778_780del
19g.11105567_11105572dupCA2695223209LDLRc.919_924dup (p.Cys308_Lys309insAspCys)
c.661_666dup (p.Cys222_Lys223insAspCys)
c.915_920dup
c.314-1825_314-1820dup (n.314-1825_314-1820dup)
c.538_543dup (p.Cys181_Lys182insAspCys)
c.314-998_314-993dup (n.314-998_314-993dup)
c.261_266dup
n.811_816dup
n.778_783dup
19g.11105567_11105583delCA10585048LDLRc.919_935del (p.Asp307Ter)
c.661_677del (p.Asp221Ter)
c.915_931del
c.314-1825_314-1809del (n.314-1825_314-1809del)
c.538_554del (p.Asp180Ter)
c.314-998_314-982del (n.314-998_314-982del)
c.261_277del
n.811_827del
n.778_794del
 ClinVar dbSNP
19g.11105566_11105584delinsCGACTGCAAGGACAAATCTCA2322767593LDLRc.918_936delinsCGACTGCAAGGACAAATCT (p.Pro306=)
c.660_678delinsCGACTGCAAGGACAAATCT (p.Pro220=)
c.914_932delinsCGACTGCAAGGACAAATCT
c.314-1826_314-1808delinsCGACTGCAAGGACAAATCT (n.314-1826_314-1808delinsCGACTGCAAGGACAAATCT)
c.537_555delinsCGACTGCAAGGACAAATCT (p.Pro179=)
c.314-999_314-981delinsCGACTGCAAGGACAAATCT (n.314-999_314-981delinsCGACTGCAAGGACAAATCT)
c.260_278delinsCGACTGCAAGGACAAATCT
n.810_828delinsCGACTGCAAGGACAAATCT
n.777_795delinsCGACTGCAAGGACAAATCT
19g.11105569_11105589dupCA10585050LDLRc.921_941dup (p.Asp313_Glu314insAspCysLysAspLysSerAsp)
c.663_683dup (p.Asp227_Glu228insAspCysLysAspLysSerAsp)
c.917_937dup
c.314-1823_314-1803dup (n.314-1823_314-1803dup)
c.540_560dup (p.Asp186_Glu187insAspCysLysAspLysSerAsp)
c.314-996_314-976dup (n.314-996_314-976dup)
c.263_283dup
n.813_833dup
n.780_800dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched