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.11105422_11105430dupCA10584962LDLRc.774_782dup (p.Asp261_Gly262insCysGluAsp)
c.516_524dup (p.Asp175_Gly176insCysGluAsp)
c.770_778dup
c.314-1970_314-1962dup (n.314-1970_314-1962dup)
c.393_401dup (p.Asp134_Gly135insCysGluAsp)
c.314-1143_314-1135dup (n.314-1143_314-1135dup)
c.116_124dup
n.666_674dup
n.633_641dup
 ClinVar dbSNP
19g.11105423_11105437delinsTGCGAAGATGGCTCGCA2322767453LDLRc.775_789delinsTGCGAAGATGGCTCG (p.Cys259=)
c.517_531delinsTGCGAAGATGGCTCG (p.Cys173=)
c.771_785delinsTGCGAAGATGGCTCG
c.314-1969_314-1955delinsTGCGAAGATGGCTCG (n.314-1969_314-1955delinsTGCGAAGATGGCTCG)
c.394_408delinsTGCGAAGATGGCTCG (p.Cys132=)
c.314-1142_314-1128delinsTGCGAAGATGGCTCG (n.314-1142_314-1128delinsTGCGAAGATGGCTCG)
c.117_131delinsTGCGAAGATGGCTCG
n.667_681delinsTGCGAAGATGGCTCG
n.634_648delinsTGCGAAGATGGCTCG
19g.11105425_11105438delCA645373225LDLRc.777_790del (p.Cys259Ter)
c.519_532del (p.Cys173Ter)
c.773_786del
c.314-1967_314-1954del (n.314-1967_314-1954del)
c.396_409del (p.Cys132Ter)
c.314-1140_314-1127del (n.314-1140_314-1127del)
c.119_132del
n.669_682del
n.636_649del
 ClinVar dbSNP
19g.11105428_11105440delinsAGATGGCTCGGATCA2322767459LDLRc.780_792delinsAGATGGCTCGGAT (p.Glu260=)
c.522_534delinsAGATGGCTCGGAT (p.Glu174=)
c.776_788delinsAGATGGCTCGGAT
c.314-1964_314-1952delinsAGATGGCTCGGAT (n.314-1964_314-1952delinsAGATGGCTCGGAT)
c.399_411delinsAGATGGCTCGGAT (p.Glu133=)
c.314-1137_314-1125delinsAGATGGCTCGGAT (n.314-1137_314-1125delinsAGATGGCTCGGAT)
c.122_134delinsAGATGGCTCGGAT
n.672_684delinsAGATGGCTCGGAT
n.639_651delinsAGATGGCTCGGAT
19g.11105429G>ACA023713LDLRc.781G>A (p.Asp261Asn)
c.523G>A (p.Asp175Asn)
c.777G>A
c.314-1963G>A (n.314-1963G>A)
c.400G>A (p.Asp134Asn)
c.314-1136G>A (n.314-1136G>A)
c.123G>A
n.673G>A
n.640G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105429G>CCA404077006LDLRc.781G>C (p.Asp261His)
c.523G>C (p.Asp175His)
c.777G>C
c.314-1963G>C (n.314-1963G>C)
c.400G>C (p.Asp134His)
c.314-1136G>C (n.314-1136G>C)
c.123G>C
n.673G>C
n.640G>C
19g.11105429G=CA2322767460LDLRc.781G= (p.Asp261=)
c.523G= (p.Asp175=)
c.777G=
c.314-1963G= (n.314-1963G=)
c.400G= (p.Asp134=)
c.314-1136G= (n.314-1136G=)
c.123G=
n.673G=
n.640G=
19g.11105429G>TCA10584969LDLRc.781G>T (p.Asp261Tyr)
c.523G>T (p.Asp175Tyr)
c.777G>T
c.314-1963G>T (n.314-1963G>T)
c.400G>T (p.Asp134Tyr)
c.314-1136G>T (n.314-1136G>T)
c.123G>T
n.673G>T
n.640G>T
 ClinVar dbSNP
19g.11105431_11105442delCA10584970LDLRc.783_794del (p.Asp261_Asp264del)
c.525_536del (p.Asp175_Asp178del)
c.779_790del
c.314-1961_314-1950del (n.314-1961_314-1950del)
c.402_413del (p.Asp134_Asp137del)
c.314-1134_314-1123del (n.314-1134_314-1123del)
c.125_136del
n.675_686del
n.642_653del
 ClinVar dbSNP
19g.11105430A>CCA404077014LDLRc.782A>C (p.Asp261Ala)
c.524A>C (p.Asp175Ala)
c.778A>C
c.314-1962A>C (n.314-1962A>C)
c.401A>C (p.Asp134Ala)
c.314-1135A>C (n.314-1135A>C)
c.124A>C
n.674A>C
n.641A>C
19g.11105430A>GCA404077017LDLRc.782A>G (p.Asp261Gly)
c.524A>G (p.Asp175Gly)
c.778A>G
c.314-1962A>G (n.314-1962A>G)
c.401A>G (p.Asp134Gly)
c.314-1135A>G (n.314-1135A>G)
c.124A>G
n.674A>G
n.641A>G
19g.11105430A>TCA404077020LDLRc.782A>T (p.Asp261Val)
c.524A>T (p.Asp175Val)
c.778A>T
c.314-1962A>T (n.314-1962A>T)
c.401A>T (p.Asp134Val)
c.314-1135A>T (n.314-1135A>T)
c.124A>T
n.674A>T
n.641A>T
 gnomAD v4
19g.11105431T>ACA404077022LDLRc.783T>A (p.Asp261Glu)
c.525T>A (p.Asp175Glu)
c.779T>A
c.314-1961T>A (n.314-1961T>A)
c.402T>A (p.Asp134Glu)
c.314-1134T>A (n.314-1134T>A)
c.125T>A
n.675T>A
n.642T>A
19g.11105431T>CCA505743224LDLRc.783T>C (p.Asp261=)
c.525T>C (p.Asp175=)
c.779T>C
c.314-1961T>C (n.314-1961T>C)
c.402T>C (p.Asp134=)
c.314-1134T>C (n.314-1134T>C)
c.125T>C
n.675T>C
n.642T>C
 ClinVar
19g.11105431T>GCA404077023LDLRc.783T>G (p.Asp261Glu)
c.525T>G (p.Asp175Glu)
c.779T>G
c.314-1961T>G (n.314-1961T>G)
c.402T>G (p.Asp134Glu)
c.314-1134T>G (n.314-1134T>G)
c.125T>G
n.675T>G
n.642T>G
19g.11105431T=CA2322767461LDLRc.783T= (p.Asp261=)
c.525T= (p.Asp175=)
c.779T=
c.314-1961T= (n.314-1961T=)
c.402T= (p.Asp134=)
c.314-1134T= (n.314-1134T=)
c.125T=
n.675T=
n.642T=
19g.11105432G>ACA404077026LDLRc.784G>A (p.Gly262Ser)
c.526G>A (p.Gly176Ser)
c.780G>A
c.314-1960G>A (n.314-1960G>A)
c.403G>A (p.Gly135Ser)
c.314-1133G>A (n.314-1133G>A)
c.126G>A
n.676G>A
n.643G>A
 gnomAD v4
19g.11105432G>CCA404077029LDLRc.784G>C (p.Gly262Arg)
c.526G>C (p.Gly176Arg)
c.780G>C
c.314-1960G>C (n.314-1960G>C)
c.403G>C (p.Gly135Arg)
c.314-1133G>C (n.314-1133G>C)
c.126G>C
n.676G>C
n.643G>C
19g.11105432G>TCA404077031LDLRc.784G>T (p.Gly262Cys)
c.526G>T (p.Gly176Cys)
c.780G>T
c.314-1960G>T (n.314-1960G>T)
c.403G>T (p.Gly135Cys)
c.314-1133G>T (n.314-1133G>T)
c.126G>T
n.676G>T
n.643G>T
19g.11105432_11105439dupCA10584971LDLRc.784_791dup (p.Asp264GlufsTer31)
c.526_533dup (p.Asp178GlufsTer31)
c.780_787dup
c.314-1960_314-1953dup (n.314-1960_314-1953dup)
c.403_410dup (p.Asp137GlufsTer31)
c.314-1133_314-1126dup (n.314-1133_314-1126dup)
c.126_133dup
n.676_683dup
n.643_650dup
 ClinVar dbSNP gnomAD v4
19g.11105433G>ACA404077051LDLRc.785G>A (p.Gly262Asp)
c.527G>A (p.Gly176Asp)
c.781G>A
c.314-1959G>A (n.314-1959G>A)
c.404G>A (p.Gly135Asp)
c.314-1132G>A (n.314-1132G>A)
c.127G>A
n.677G>A
n.644G>A
19g.11105433G>CCA404077042LDLRc.785G>C (p.Gly262Ala)
c.527G>C (p.Gly176Ala)
c.781G>C
c.314-1959G>C (n.314-1959G>C)
c.404G>C (p.Gly135Ala)
c.314-1132G>C (n.314-1132G>C)
c.127G>C
n.677G>C
n.644G>C
19g.11105433G=CA2322767462LDLRc.785G= (p.Gly262=)
c.527G= (p.Gly176=)
c.781G=
c.314-1959G= (n.314-1959G=)
c.404G= (p.Gly135=)
c.314-1132G= (n.314-1132G=)
c.127G=
n.677G=
n.644G=
19g.11105433G>TCA10584972LDLRc.785G>T (p.Gly262Val)
c.527G>T (p.Gly176Val)
c.781G>T
c.314-1959G>T (n.314-1959G>T)
c.404G>T (p.Gly135Val)
c.314-1132G>T (n.314-1132G>T)
c.127G>T
n.677G>T
n.644G>T
 ClinVar dbSNP gnomAD v4
19g.11105434C>ACA505743228LDLRc.786C>A (p.Gly262=)
c.528C>A (p.Gly176=)
c.782C>A
c.314-1958C>A (n.314-1958C>A)
c.405C>A (p.Gly135=)
c.314-1131C>A (n.314-1131C>A)
c.128C>A
n.678C>A
n.645C>A
19g.11105434C=CA2322767463LDLRc.786C= (p.Gly262=)
c.528C= (p.Gly176=)
c.782C=
c.314-1958C= (n.314-1958C=)
c.405C= (p.Gly135=)
c.314-1131C= (n.314-1131C=)
c.128C=
n.678C=
n.645C=
19g.11105434C>GCA505743229LDLRc.786C>G (p.Gly262=)
c.528C>G (p.Gly176=)
c.782C>G
c.314-1958C>G (n.314-1958C>G)
c.405C>G (p.Gly135=)
c.314-1131C>G (n.314-1131C>G)
c.128C>G
n.678C>G
n.645C>G
19g.11105434C>TCA505743230LDLRc.786C>T (p.Gly262=)
c.528C>T (p.Gly176=)
c.782C>T
c.314-1958C>T (n.314-1958C>T)
c.405C>T (p.Gly135=)
c.314-1131C>T (n.314-1131C>T)
c.128C>T
n.678C>T
n.645C>T
 ClinVar dbSNP
19g.11105435T>ACA404077055LDLRc.787T>A (p.Ser263Thr)
c.529T>A (p.Ser177Thr)
c.783T>A
c.314-1957T>A (n.314-1957T>A)
c.406T>A (p.Ser136Thr)
c.314-1130T>A (n.314-1130T>A)
c.129T>A
n.679T>A
n.646T>A
19g.11105435T>CCA16609805LDLRc.787T>C (p.Ser263Pro)
c.529T>C (p.Ser177Pro)
c.783T>C
c.314-1957T>C (n.314-1957T>C)
c.406T>C (p.Ser136Pro)
c.314-1130T>C (n.314-1130T>C)
c.129T>C
n.679T>C
n.646T>C
 ClinVar dbSNP
19g.11105435T>GCA404077058LDLRc.787T>G (p.Ser263Ala)
c.529T>G (p.Ser177Ala)
c.783T>G
c.314-1957T>G (n.314-1957T>G)
c.406T>G (p.Ser136Ala)
c.314-1130T>G (n.314-1130T>G)
c.129T>G
n.679T>G
n.646T>G
19g.11105435T=CA2322767464LDLRc.787T= (p.Ser263=)
c.529T= (p.Ser177=)
c.783T=
c.314-1957T= (n.314-1957T=)
c.406T= (p.Ser136=)
c.314-1130T= (n.314-1130T=)
c.129T=
n.679T=
n.646T=
19g.11105436C>ACA404077059LDLRc.788C>A (p.Ser263Ter)
c.530C>A (p.Ser177Ter)
c.784C>A
c.314-1956C>A (n.314-1956C>A)
c.407C>A (p.Ser136Ter)
c.314-1129C>A (n.314-1129C>A)
c.130C>A
n.680C>A
n.647C>A
19g.11105436C=CA2322767465LDLRc.788C= (p.Ser263=)
c.530C= (p.Ser177=)
c.784C=
c.314-1956C= (n.314-1956C=)
c.407C= (p.Ser136=)
c.314-1129C= (n.314-1129C=)
c.130C=
n.680C=
n.647C=
19g.11105436C>GCA404077062LDLRc.788C>G (p.Ser263Trp)
c.530C>G (p.Ser177Trp)
c.784C>G
c.314-1956C>G (n.314-1956C>G)
c.407C>G (p.Ser136Trp)
c.314-1129C>G (n.314-1129C>G)
c.130C>G
n.680C>G
n.647C>G
 ClinVar
19g.11105436C>TCA023715LDLRc.788C>T (p.Ser263Leu)
c.530C>T (p.Ser177Leu)
c.784C>T
c.314-1956C>T (n.314-1956C>T)
c.407C>T (p.Ser136Leu)
c.314-1129C>T (n.314-1129C>T)
c.130C>T
n.680C>T
n.647C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched