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.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.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.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.11106161_11107857delCA2573050584LDLRc.953-404_1198+343del
c.695-404_940+343del
c.949-404_1194+343del
c.314-1231_436+343del
c.572-404_817+343del
c.314-404_559+343del
c.295-404_540+343del
n.845-404_1090+343del
n.812-404_1057+343del
19g.11106209_11108573delCA10585092LDLRc.953-356_1198+1059del
c.695-356_940+1059del
c.949-356_1194+1059del
c.314-1183_436+1059del
c.572-356_817+1059del
c.314-356_559+1059del
c.295-356_540+1059del
n.845-356_1090+1059del
n.812-356_1057+1059del
 ClinVar
19g.11106498_11114133delCA404079331LDLRc.953-67_1844+371del
c.695-67_1586+371del
c.695-67_1466+371del
c.949-67_1840+371del
c.314-894_1082+371del
c.572-67_1463+371del
c.314-67_1205+371del
n.845-67_1736+371del
n.812-67_1703+371del
 ClinVar
19g.11106564_11107515delCA658824389LDLRc.953-1_1198+1del
c.695-1_940+1del
c.949-1_1194+1del
c.314-828_436+1del
c.572-1_817+1del
c.314-1_559+1del
n.209_456del
c.295-1_540+1del
n.845-1_1090+1del
n.812-1_1057+1del
 ClinVar
19g.11107506_11107513delinsAAGAGTGCCA2322768656LDLRc.1190_1197delinsAAGAGTGC (p.Lys397=)
c.932_939delinsAAGAGTGC (p.Lys311=)
c.1186_1193delinsAAGAGTGC
c.428_435delinsAAGAGTGC (p.Lys143=)
c.809_816delinsAAGAGTGC (p.Lys270=)
c.551_558delinsAAGAGTGC (p.Lys184=)
n.447_454delinsAAGAGTGC
c.532_539delinsAAGAGTGC
n.1082_1089delinsAAGAGTGC
n.1049_1056delinsAAGAGTGC
19g.11107506_11107513delinsGAGAGTGGCA658656796LDLRc.1190_1197delinsGAGAGTGG (p.Lys397_Cys399delinsArgGluTrp)
c.932_939delinsGAGAGTGG (p.Lys311_Cys313delinsArgGluTrp)
c.1186_1193delinsGAGAGTGG
c.428_435delinsGAGAGTGG (p.Lys143_Cys145delinsArgGluTrp)
c.809_816delinsGAGAGTGG (p.Lys270_Cys272delinsArgGluTrp)
c.551_558delinsGAGAGTGG (p.Lys184_Cys186delinsArgGluTrp)
n.447_454delinsGAGAGTGG
c.532_539delinsGAGAGTGG
n.1082_1089delinsGAGAGTGG
n.1049_1056delinsGAGAGTGG
 ClinVar dbSNP
19g.11107509_11107510delCA10585205LDLRc.1193_1194del (p.Glu398ValfsTer19)
c.935_936del (p.Glu312ValfsTer19)
c.935_936del (p.Glu312ValfsTer5)
c.1189_1190del
c.431_432del (p.Glu144ValfsTer19)
c.812_813del (p.Glu271ValfsTer19)
c.554_555del (p.Glu185ValfsTer19)
n.450_451del
c.535_536del
n.1085_1086del
n.1052_1053del
 ClinVar dbSNP
19g.11107509A=CA2322768660LDLRc.1193A= (p.Glu398=)
c.935A= (p.Glu312=)
c.1189A=
c.431A= (p.Glu144=)
c.812A= (p.Glu271=)
c.554A= (p.Glu185=)
n.450A=
c.535A=
n.1085A=
n.1052A=
19g.11107509A>CCA404081080LDLRc.1193A>C (p.Glu398Ala)
c.935A>C (p.Glu312Ala)
c.1189A>C
c.431A>C (p.Glu144Ala)
c.812A>C (p.Glu271Ala)
c.554A>C (p.Glu185Ala)
n.450A>C
c.535A>C
n.1085A>C
n.1052A>C
19g.11107509A>GCA404081081LDLRc.1193A>G (p.Glu398Gly)
c.935A>G (p.Glu312Gly)
c.1189A>G
c.431A>G (p.Glu144Gly)
c.812A>G (p.Glu271Gly)
c.554A>G (p.Glu185Gly)
n.450A>G
c.535A>G
n.1085A>G
n.1052A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11107509A>TCA404081082LDLRc.1193A>T (p.Glu398Val)
c.935A>T (p.Glu312Val)
c.1189A>T
c.431A>T (p.Glu144Val)
c.812A>T (p.Glu271Val)
c.554A>T (p.Glu185Val)
n.450A>T
c.535A>T
n.1085A>T
n.1052A>T
19g.11107509_11107514delinsAGTGCGCA2322768658LDLRc.1193_1198delinsAGTGCG (p.Glu398=)
c.935_940delinsAGTGCG (p.Glu312=)
c.1189_1194delinsAGTGCG
c.431_436delinsAGTGCG (p.Glu144=)
c.812_817delinsAGTGCG (p.Glu271=)
c.554_559delinsAGTGCG (p.Glu185=)
n.450_455delinsAGTGCG
c.535_540delinsAGTGCG
n.1085_1090delinsAGTGCG
n.1052_1057delinsAGTGCG
19g.11107509_11107524delinsAGTGCGGTGAGTCTCGCA2322768659LDLRc.1193_1198+10delinsAGTGCGGTGAGTCTCG
c.935_940+10delinsAGTGCGGTGAGTCTCG
c.1189_1194+10delinsAGTGCGGTGAGTCTCG
c.431_436+10delinsAGTGCGGTGAGTCTCG
c.812_817+10delinsAGTGCGGTGAGTCTCG
c.554_559+10delinsAGTGCGGTGAGTCTCG
c.535_540+10delinsAGTGCGGTGAGTCTCG
n.1085_1090+10delinsAGTGCGGTGAGTCTCG
n.1052_1057+10delinsAGTGCGGTGAGTCTCG
19g.11107510G>ACA505485114LDLRc.1194G>A (p.Glu398=)
c.936G>A (p.Glu312=)
c.1190G>A
c.432G>A (p.Glu144=)
c.813G>A (p.Glu271=)
c.555G>A (p.Glu185=)
n.451G>A
c.536G>A
n.1086G>A
n.1053G>A
 ClinVar dbSNP
19g.11107510G>CCA404081083LDLRc.1194G>C (p.Glu398Asp)
c.936G>C (p.Glu312Asp)
c.1190G>C
c.432G>C (p.Glu144Asp)
c.813G>C (p.Glu271Asp)
c.555G>C (p.Glu185Asp)
n.451G>C
c.536G>C
n.1086G>C
n.1053G>C
19g.11107510G=CA2322768661LDLRc.1194G= (p.Glu398=)
c.936G= (p.Glu312=)
c.1190G=
c.432G= (p.Glu144=)
c.813G= (p.Glu271=)
c.555G= (p.Glu185=)
n.451G=
c.536G=
n.1086G=
n.1053G=
19g.11107510G>TCA404081084LDLRc.1194G>T (p.Glu398Asp)
c.936G>T (p.Glu312Asp)
c.1190G>T
c.432G>T (p.Glu144Asp)
c.813G>T (p.Glu271Asp)
c.555G>T (p.Glu185Asp)
n.451G>T
c.536G>T
n.1086G>T
n.1053G>T
 ClinVar dbSNP
19g.11107511_11107512dupCA2739276485LDLRc.1195_1196dup (p.Gly400AlafsTer?)
c.937_938dup (p.Gly314AlafsTer?)
c.937_938dup (p.Asp314AlafsTer17)
c.1191_1192dup
c.433_434dup (p.Gly146AlafsTer?)
c.814_815dup (p.Gly273AlafsTer?)
c.556_557dup (p.Gly187AlafsTer?)
n.452_453dup
c.537_538dup
n.1087_1088dup
n.1054_1055dup
 ClinVar
19g.11107513_11107517delCA10585206LDLRc.1197_1198+3del
c.939_940+3del
c.1193_1194+3del
c.435_436+3del
c.816_817+3del
c.558_559+3del
c.539_540+3del
n.1089_1090+3del
n.1056_1057+3del
 ClinVar dbSNP
19g.11107514_11107528delCA16602318LDLRc.1198_1198+14del
c.940_940+14del
c.1194_1194+14del
c.436_436+14del
c.817_817+14del
c.559_559+14del
c.540_540+14del
n.1090_1090+14del
n.1057_1057+14del
 ClinVar dbSNP gnomAD v4
19g.11107511T>ACA404081085LDLRc.1195T>A (p.Cys399Ser)
c.937T>A (p.Cys313Ser)
c.1191T>A
c.433T>A (p.Cys145Ser)
c.814T>A (p.Cys272Ser)
c.556T>A (p.Cys186Ser)
n.452T>A
c.537T>A
n.1087T>A
n.1054T>A
19g.11107511T>CCA10585207LDLRc.1195T>C (p.Cys399Arg)
c.937T>C (p.Cys313Arg)
c.1191T>C
c.433T>C (p.Cys145Arg)
c.814T>C (p.Cys272Arg)
c.556T>C (p.Cys186Arg)
n.452T>C
c.537T>C
n.1087T>C
n.1054T>C
 ClinVar dbSNP
19g.11107511T>GCA10585208LDLRc.1195T>G (p.Cys399Gly)
c.937T>G (p.Cys313Gly)
c.1191T>G
c.433T>G (p.Cys145Gly)
c.814T>G (p.Cys272Gly)
c.556T>G (p.Cys186Gly)
n.452T>G
c.537T>G
n.1087T>G
n.1054T>G
 ClinVar dbSNP
19g.11107511T=CA2322768662LDLRc.1195T= (p.Cys399=)
c.937T= (p.Cys313=)
c.1191T=
c.433T= (p.Cys145=)
c.814T= (p.Cys272=)
c.556T= (p.Cys186=)
n.452T=
c.537T=
n.1087T=
n.1054T=
19g.11107512G>ACA10576292LDLRc.1196G>A (p.Cys399Tyr)
c.938G>A (p.Cys313Tyr)
c.1192G>A
c.434G>A (p.Cys145Tyr)
c.815G>A (p.Cys272Tyr)
c.557G>A (p.Cys186Tyr)
n.453G>A
c.538G>A
n.1088G>A
n.1055G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11107512G>CCA404081086LDLRc.1196G>C (p.Cys399Ser)
c.938G>C (p.Cys313Ser)
c.1192G>C
c.434G>C (p.Cys145Ser)
c.815G>C (p.Cys272Ser)
c.557G>C (p.Cys186Ser)
n.453G>C
c.538G>C
n.1088G>C
n.1055G>C
19g.11107512G=CA2322768664LDLRc.1196G= (p.Cys399=)
c.938G= (p.Cys313=)
c.1192G=
c.434G= (p.Cys145=)
c.815G= (p.Cys272=)
c.557G= (p.Cys186=)
n.453G=
c.538G=
n.1088G=
n.1055G=
19g.11107512G>TCA404081087LDLRc.1196G>T (p.Cys399Phe)
c.938G>T (p.Cys313Phe)
c.1192G>T
c.434G>T (p.Cys145Phe)
c.815G>T (p.Cys272Phe)
c.557G>T (p.Cys186Phe)
n.453G>T
c.538G>T
n.1088G>T
n.1055G>T
19g.11107512_11107513delinsATCA10576293LDLRc.1196_1197delinsAT (p.Cys399Tyr)
c.938_939delinsAT (p.Cys313Tyr)
c.1192_1193delinsAT
c.434_435delinsAT (p.Cys145Tyr)
c.815_816delinsAT (p.Cys272Tyr)
c.557_558delinsAT (p.Cys186Tyr)
n.453_454delinsAT
c.538_539delinsAT
n.1088_1089delinsAT
n.1055_1056delinsAT
 ClinVar dbSNP
19g.11107512_11107513delinsGCCA2322768663LDLRc.1196_1197delinsGC (p.Cys399=)
c.938_939delinsGC (p.Cys313=)
c.1192_1193delinsGC
c.434_435delinsGC (p.Cys145=)
c.815_816delinsGC (p.Cys272=)
c.557_558delinsGC (p.Cys186=)
n.453_454delinsGC
c.538_539delinsGC
n.1088_1089delinsGC
n.1055_1056delinsGC
19g.11107513C>ACA10585209LDLRc.1197C>A (p.Cys399Ter)
c.939C>A (p.Cys313Ter)
c.1193C>A
c.435C>A (p.Cys145Ter)
c.816C>A (p.Cys272Ter)
c.558C>A (p.Cys186Ter)
n.454C>A
c.539C>A
n.1089C>A
n.1056C>A
 ClinVar dbSNP gnomAD v4
19g.11107513C=CA2322768665LDLRc.1197C= (p.Cys399=)
c.939C= (p.Cys313=)
c.1193C=
c.435C= (p.Cys145=)
c.816C= (p.Cys272=)
c.558C= (p.Cys186=)
n.454C=
c.539C=
n.1089C=
n.1056C=
19g.11107513C>GCA030215LDLRc.1197C>G (p.Cys399Trp)
c.939C>G (p.Cys313Trp)
c.1193C>G
c.435C>G (p.Cys145Trp)
c.816C>G (p.Cys272Trp)
c.558C>G (p.Cys186Trp)
n.454C>G
c.539C>G
n.1089C>G
n.1056C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11107513C>TCA030233LDLRc.1197C>T (p.Cys399=)
c.939C>T (p.Cys313=)
c.1193C>T
c.435C>T (p.Cys145=)
c.816C>T (p.Cys272=)
c.558C>T (p.Cys186=)
n.454C>T
c.539C>T
n.1089C>T
n.1056C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11107514G>ACA023795LDLRc.1198G>A (p.Gly400Arg)
c.940G>A (p.Gly314Arg)
c.940G>A (p.Asp314Asn)
c.1194G>A
c.436G>A (p.Gly146Arg)
c.817G>A (p.Gly273Arg)
c.559G>A (p.Gly187Arg)
n.455G>A
c.540G>A
n.1090G>A
n.1057G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11107514G>CCA404081088LDLRc.1198G>C (p.Gly400Arg)
c.940G>C (p.Gly314Arg)
c.940G>C (p.Asp314His)
c.1194G>C
c.436G>C (p.Gly146Arg)
c.817G>C (p.Gly273Arg)
c.559G>C (p.Gly187Arg)
n.455G>C
c.540G>C
n.1090G>C
n.1057G>C
19g.11107514G=CA2322768666LDLRc.1198G= (p.Gly400=)
c.940G= (p.Gly314=)
c.940G= (p.Asp314=)
c.1194G=
c.436G= (p.Gly146=)
c.817G= (p.Gly273=)
c.559G= (p.Gly187=)
n.455G=
c.540G=
n.1090G=
n.1057G=
19g.11107514G>TCA030532LDLRc.1198G>T (p.Gly400Trp)
c.940G>T (p.Gly314Trp)
c.940G>T (p.Asp314Tyr)
c.1194G>T
c.436G>T (p.Gly146Trp)
c.817G>T (p.Gly273Trp)
c.559G>T (p.Gly187Trp)
n.455G>T
c.540G>T
n.1090G>T
n.1057G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11107515dupCA16602319LDLRc.1198+1dup
c.940+1dup
c.1194+1dup
c.436+1dup
c.817+1dup
c.559+1dup
c.540+1dup
n.1090+1dup
n.1057+1dup
 ClinVar dbSNP
19g.11107515delCA2573050589LDLRc.1198+1del
c.940+1del
c.1194+1del
c.436+1del
c.817+1del
c.559+1del
n.456del
c.540+1del
n.1090+1del
n.1057+1del

Number of alleles fetched