Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.11108359_11112170delCA404081661LDLRc.1198+845_1444+531del
c.940+845_1186+531del
c.940+845_1066+531del
c.1194+845_1440+531del
c.436+845_682+531del
c.817+845_1063+531del
c.559+845_805+531del
c.540+845_666+531del
n.1090+845_1336+531del
n.1057+845_1303+531del
 ClinVar
19g.11111514_11116998delCA10585283LDLRc.1319_2103del
c.1061_1705+786del
c.941_1725del
c.1061_1845del
c.1315_2099del
c.557_1341del
c.938_1722del
c.680_1464del
n.1211_1855+786del
n.1178_1962del
n.1178_1822+786del
19g.11111522_11111539dupCA10585291LDLRc.1327_1344dup (p.Asp448_Thr449insGluCysGlnAspProAsp)
c.1069_1086dup (p.Asp362_Thr363insGluCysGlnAspProAsp)
c.949_966dup (p.Asp322_Thr323insGluCysGlnAspProAsp)
c.1323_1340dup
c.565_582dup (p.Asp194_Thr195insGluCysGlnAspProAsp)
c.946_963dup (p.Asp321_Thr322insGluCysGlnAspProAsp)
c.688_705dup (p.Asp235_Thr236insGluCysGlnAspProAsp)
n.68_85dup
c.549_566dup
n.1219_1236dup
n.1186_1203dup
 ClinVar dbSNP
19g.11111522_11111540dupCA2695238674LDLRc.1327_1345dup (p.Thr449ArgfsTer24)
c.1069_1087dup (p.Thr363ArgfsTer24)
c.949_967dup (p.Thr323ArgfsTer24)
c.1323_1341dup
c.565_583dup (p.Thr195ArgfsTer24)
c.946_964dup (p.Thr322ArgfsTer24)
c.688_706dup (p.Thr236ArgfsTer24)
n.68_86dup
c.549_567dup
n.1219_1237dup
n.1186_1204dup
19g.11111526_11111532delinsGTCAGGACA2322770704LDLRc.1331_1337delinsGTCAGGA (p.Cys444=)
c.1073_1079delinsGTCAGGA (p.Cys358=)
c.953_959delinsGTCAGGA (p.Cys318=)
c.1327_1333delinsGTCAGGA
c.569_575delinsGTCAGGA (p.Cys190=)
c.950_956delinsGTCAGGA (p.Cys317=)
c.692_698delinsGTCAGGA (p.Cys231=)
n.72_78delinsGTCAGGA
c.553_559delinsGTCAGGA
n.1223_1229delinsGTCAGGA
n.1190_1196delinsGTCAGGA
19g.11111529_11111534delCA10585295LDLRc.1334_1339del (p.Gln445_Asp446del)
c.1076_1081del (p.Gln359_Asp360del)
c.956_961del (p.Gln319_Asp320del)
c.1330_1335del
c.572_577del (p.Gln191_Asp192del)
c.953_958del (p.Gln318_Asp319del)
c.695_700del (p.Gln232_Asp233del)
n.75_80del
c.556_561del
n.1226_1231del
n.1193_1198del
 ClinVar dbSNP
19g.11111529A>CCA404083173LDLRc.1334A>C (p.Gln445Pro)
c.1076A>C (p.Gln359Pro)
c.956A>C (p.Gln319Pro)
c.1330A>C
c.572A>C (p.Gln191Pro)
c.953A>C (p.Gln318Pro)
c.695A>C (p.Gln232Pro)
n.75A>C
c.556A>C
n.1226A>C
n.1193A>C
19g.11111529A>GCA404083178LDLRc.1334A>G (p.Gln445Arg)
c.1076A>G (p.Gln359Arg)
c.956A>G (p.Gln319Arg)
c.1330A>G
c.572A>G (p.Gln191Arg)
c.953A>G (p.Gln318Arg)
c.695A>G (p.Gln232Arg)
n.75A>G
c.556A>G
n.1226A>G
n.1193A>G
19g.11111529A>TCA404083175LDLRc.1334A>T (p.Gln445Leu)
c.1076A>T (p.Gln359Leu)
c.956A>T (p.Gln319Leu)
c.1330A>T
c.572A>T (p.Gln191Leu)
c.953A>T (p.Gln318Leu)
c.695A>T (p.Gln232Leu)
n.75A>T
c.556A>T
n.1226A>T
n.1193A>T
19g.11111530G>ACA505485536LDLRc.1335G>A (p.Gln445=)
c.1077G>A (p.Gln359=)
c.957G>A (p.Gln319=)
c.1331G>A
c.573G>A (p.Gln191=)
c.954G>A (p.Gln318=)
c.696G>A (p.Gln232=)
n.76G>A
c.557G>A
n.1227G>A
n.1194G>A
19g.11111530G>CCA404083181LDLRc.1335G>C (p.Gln445His)
c.1077G>C (p.Gln359His)
c.957G>C (p.Gln319His)
c.1331G>C
c.573G>C (p.Gln191His)
c.954G>C (p.Gln318His)
c.696G>C (p.Gln232His)
n.76G>C
c.557G>C
n.1227G>C
n.1194G>C
19g.11111530G>TCA404083184LDLRc.1335G>T (p.Gln445His)
c.1077G>T (p.Gln359His)
c.957G>T (p.Gln319His)
c.1331G>T
c.573G>T (p.Gln191His)
c.954G>T (p.Gln318His)
c.696G>T (p.Gln232His)
n.76G>T
c.557G>T
n.1227G>T
n.1194G>T
19g.11111531G>ACA404083187LDLRc.1336G>A (p.Asp446Asn)
c.1078G>A (p.Asp360Asn)
c.958G>A (p.Asp320Asn)
c.1332G>A
c.574G>A (p.Asp192Asn)
c.955G>A (p.Asp319Asn)
c.697G>A (p.Asp233Asn)
n.77G>A
c.558G>A
n.1228G>A
n.1195G>A
19g.11111531G>CCA031936LDLRc.1336G>C (p.Asp446His)
c.1078G>C (p.Asp360His)
c.958G>C (p.Asp320His)
c.1332G>C
c.574G>C (p.Asp192His)
c.955G>C (p.Asp319His)
c.697G>C (p.Asp233His)
n.77G>C
c.558G>C
n.1228G>C
n.1195G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11111531G=CA2322770707LDLRc.1336G= (p.Asp446=)
c.1078G= (p.Asp360=)
c.958G= (p.Asp320=)
c.1332G=
c.574G= (p.Asp192=)
c.955G= (p.Asp319=)
c.697G= (p.Asp233=)
n.77G=
c.558G=
n.1228G=
n.1195G=
19g.11111531G>TCA404083192LDLRc.1336G>T (p.Asp446Tyr)
c.1078G>T (p.Asp360Tyr)
c.958G>T (p.Asp320Tyr)
c.1332G>T
c.574G>T (p.Asp192Tyr)
c.955G>T (p.Asp319Tyr)
c.697G>T (p.Asp233Tyr)
n.77G>T
c.558G>T
n.1228G>T
n.1195G>T
19g.11111532A>CCA404083196LDLRc.1337A>C (p.Asp446Ala)
c.1079A>C (p.Asp360Ala)
c.959A>C (p.Asp320Ala)
c.1333A>C
c.575A>C (p.Asp192Ala)
c.956A>C (p.Asp319Ala)
c.698A>C (p.Asp233Ala)
n.78A>C
c.559A>C
n.1229A>C
n.1196A>C
19g.11111532A>GCA404083198LDLRc.1337A>G (p.Asp446Gly)
c.1079A>G (p.Asp360Gly)
c.959A>G (p.Asp320Gly)
c.1333A>G
c.575A>G (p.Asp192Gly)
c.956A>G (p.Asp319Gly)
c.698A>G (p.Asp233Gly)
n.78A>G
c.559A>G
n.1229A>G
n.1196A>G
19g.11111532A>TCA404083200LDLRc.1337A>T (p.Asp446Val)
c.1079A>T (p.Asp360Val)
c.959A>T (p.Asp320Val)
c.1333A>T
c.575A>T (p.Asp192Val)
c.956A>T (p.Asp319Val)
c.698A>T (p.Asp233Val)
n.78A>T
c.559A>T
n.1229A>T
n.1196A>T
19g.11111533T>ACA404083204LDLRc.1338T>A (p.Asp446Glu)
c.1080T>A (p.Asp360Glu)
c.960T>A (p.Asp320Glu)
c.1334T>A
c.576T>A (p.Asp192Glu)
c.957T>A (p.Asp319Glu)
c.699T>A (p.Asp233Glu)
n.79T>A
c.560T>A
n.1230T>A
n.1197T>A
19g.11111533T>CCA505485538LDLRc.1338T>C (p.Asp446=)
c.1080T>C (p.Asp360=)
c.960T>C (p.Asp320=)
c.1334T>C
c.576T>C (p.Asp192=)
c.957T>C (p.Asp319=)
c.699T>C (p.Asp233=)
n.79T>C
c.560T>C
n.1230T>C
n.1197T>C
19g.11111533T>GCA031958LDLRc.1338T>G (p.Asp446Glu)
c.1080T>G (p.Asp360Glu)
c.960T>G (p.Asp320Glu)
c.1334T>G
c.576T>G (p.Asp192Glu)
c.957T>G (p.Asp319Glu)
c.699T>G (p.Asp233Glu)
n.79T>G
c.560T>G
n.1230T>G
n.1197T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11111533T=CA2322770708LDLRc.1338T= (p.Asp446=)
c.1080T= (p.Asp360=)
c.960T= (p.Asp320=)
c.1334T=
c.576T= (p.Asp192=)
c.957T= (p.Asp319=)
c.699T= (p.Asp233=)
n.79T=
c.560T=
n.1230T=
n.1197T=
19g.11111534C>ACA404083208LDLRc.1339C>A (p.Pro447Thr)
c.1081C>A (p.Pro361Thr)
c.961C>A (p.Pro321Thr)
c.1335C>A
c.577C>A (p.Pro193Thr)
c.958C>A (p.Pro320Thr)
c.700C>A (p.Pro234Thr)
n.80C>A
c.561C>A
n.1231C>A
n.1198C>A
 gnomAD v4
19g.11111534C=CA2322770709LDLRc.1339C= (p.Pro447=)
c.1081C= (p.Pro361=)
c.961C= (p.Pro321=)
c.1335C=
c.577C= (p.Pro193=)
c.958C= (p.Pro320=)
c.700C= (p.Pro234=)
n.80C=
c.561C=
n.1231C=
n.1198C=
19g.11111534C>GCA404083215LDLRc.1339C>G (p.Pro447Ala)
c.1081C>G (p.Pro361Ala)
c.961C>G (p.Pro321Ala)
c.1335C>G
c.577C>G (p.Pro193Ala)
c.958C>G (p.Pro320Ala)
c.700C>G (p.Pro234Ala)
n.80C>G
c.561C>G
n.1231C>G
n.1198C>G
19g.11111534C>TCA404083213LDLRc.1339C>T (p.Pro447Ser)
c.1081C>T (p.Pro361Ser)
c.961C>T (p.Pro321Ser)
c.1335C>T
c.577C>T (p.Pro193Ser)
c.958C>T (p.Pro320Ser)
c.700C>T (p.Pro234Ser)
n.80C>T
c.561C>T
n.1231C>T
n.1198C>T
 ClinVar dbSNP
19g.11111535C>ACA404083219LDLRc.1340C>A (p.Pro447His)
c.1082C>A (p.Pro361His)
c.962C>A (p.Pro321His)
c.1336C>A
c.578C>A (p.Pro193His)
c.959C>A (p.Pro320His)
c.701C>A (p.Pro234His)
n.81C>A
c.562C>A
n.1232C>A
n.1199C>A
19g.11111535C>GCA404083225LDLRc.1340C>G (p.Pro447Arg)
c.1082C>G (p.Pro361Arg)
c.962C>G (p.Pro321Arg)
c.1336C>G
c.578C>G (p.Pro193Arg)
c.959C>G (p.Pro320Arg)
c.701C>G (p.Pro234Arg)
n.81C>G
c.562C>G
n.1232C>G
n.1199C>G
19g.11111535C>TCA404083222LDLRc.1340C>T (p.Pro447Leu)
c.1082C>T (p.Pro361Leu)
c.962C>T (p.Pro321Leu)
c.1336C>T
c.578C>T (p.Pro193Leu)
c.959C>T (p.Pro320Leu)
c.701C>T (p.Pro234Leu)
n.81C>T
c.562C>T
n.1232C>T
n.1199C>T
 COSMIC
19g.11111536C>ACA505485539LDLRc.1341C>A (p.Pro447=)
c.1083C>A (p.Pro361=)
c.963C>A (p.Pro321=)
c.1337C>A
c.579C>A (p.Pro193=)
c.960C>A (p.Pro320=)
c.702C>A (p.Pro234=)
n.82C>A
c.563C>A
n.1233C>A
n.1200C>A
19g.11111536C=CA2322770710LDLRc.1341C= (p.Pro447=)
c.1083C= (p.Pro361=)
c.963C= (p.Pro321=)
c.1337C=
c.579C= (p.Pro193=)
c.960C= (p.Pro320=)
c.702C= (p.Pro234=)
n.82C=
c.563C=
n.1233C=
n.1200C=
19g.11111536C>GCA031985LDLRc.1341C>G (p.Pro447=)
c.1083C>G (p.Pro361=)
c.963C>G (p.Pro321=)
c.1337C>G
c.579C>G (p.Pro193=)
c.960C>G (p.Pro320=)
c.702C>G (p.Pro234=)
n.82C>G
c.563C>G
n.1233C>G
n.1200C>G
 dbSNP ExAC gnomAD v2
19g.11111536C>TCA032007LDLRc.1341C>T (p.Pro447=)
c.1083C>T (p.Pro361=)
c.963C>T (p.Pro321=)
c.1337C>T
c.579C>T (p.Pro193=)
c.960C>T (p.Pro320=)
c.702C>T (p.Pro234=)
n.82C>T
c.563C>T
n.1233C>T
n.1200C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11111537G>ACA404083234LDLRc.1342G>A (p.Asp448Asn)
c.1084G>A (p.Asp362Asn)
c.964G>A (p.Asp322Asn)
c.1338G>A
c.580G>A (p.Asp194Asn)
c.961G>A (p.Asp321Asn)
c.703G>A (p.Asp235Asn)
n.83G>A
c.564G>A
n.1234G>A
n.1201G>A
 dbSNP gnomAD v4 COSMIC
19g.11111537G>CCA404083237LDLRc.1342G>C (p.Asp448His)
c.1084G>C (p.Asp362His)
c.964G>C (p.Asp322His)
c.1338G>C
c.580G>C (p.Asp194His)
c.961G>C (p.Asp321His)
c.703G>C (p.Asp235His)
n.83G>C
c.564G>C
n.1234G>C
n.1201G>C
19g.11111537G=CA2322770712LDLRc.1342G= (p.Asp448=)
c.1084G= (p.Asp362=)
c.964G= (p.Asp322=)
c.1338G=
c.580G= (p.Asp194=)
c.961G= (p.Asp321=)
c.703G= (p.Asp235=)
n.83G=
c.564G=
n.1234G=
n.1201G=
19g.11111537G>TCA404083238LDLRc.1342G>T (p.Asp448Tyr)
c.1084G>T (p.Asp362Tyr)
c.964G>T (p.Asp322Tyr)
c.1338G>T
c.580G>T (p.Asp194Tyr)
c.961G>T (p.Asp321Tyr)
c.703G>T (p.Asp235Tyr)
n.83G>T
c.564G>T
n.1234G>T
n.1201G>T
19g.11111537_11111538delinsGACA2322770711LDLRc.1342_1343delinsGA (p.Asp448=)
c.1084_1085delinsGA (p.Asp362=)
c.964_965delinsGA (p.Asp322=)
c.1338_1339delinsGA
c.580_581delinsGA (p.Asp194=)
c.961_962delinsGA (p.Asp321=)
c.703_704delinsGA (p.Asp235=)
n.83_84delinsGA
c.564_565delinsGA
n.1234_1235delinsGA
n.1201_1202delinsGA
19g.11111538delCA10585296LDLRc.1343del (p.Asp448AlafsTer8)
c.1085del (p.Asp362AlafsTer8)
c.965del (p.Asp322AlafsTer8)
c.1339del
c.581del (p.Asp194AlafsTer8)
c.962del (p.Asp321AlafsTer8)
c.704del (p.Asp235AlafsTer8)
n.84del
c.565del
n.1235del
n.1202del
 ClinVar dbSNP
19g.11111538A=CA2322770713LDLRc.1343A= (p.Asp448=)
c.1085A= (p.Asp362=)
c.965A= (p.Asp322=)
c.1339A=
c.581A= (p.Asp194=)
c.962A= (p.Asp321=)
c.704A= (p.Asp235=)
n.84A=
c.565A=
n.1235A=
n.1202A=
19g.11111538A>CCA023415LDLRc.1343A>C (p.Asp448Ala)
c.1085A>C (p.Asp362Ala)
c.965A>C (p.Asp322Ala)
c.1339A>C
c.581A>C (p.Asp194Ala)
c.962A>C (p.Asp321Ala)
c.704A>C (p.Asp235Ala)
n.84A>C
c.565A>C
n.1235A>C
n.1202A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11111538A>GCA404083252LDLRc.1343A>G (p.Asp448Gly)
c.1085A>G (p.Asp362Gly)
c.965A>G (p.Asp322Gly)
c.1339A>G
c.581A>G (p.Asp194Gly)
c.962A>G (p.Asp321Gly)
c.704A>G (p.Asp235Gly)
n.84A>G
c.565A>G
n.1235A>G
n.1202A>G
19g.11111538A>TCA032033LDLRc.1343A>T (p.Asp448Val)
c.1085A>T (p.Asp362Val)
c.965A>T (p.Asp322Val)
c.1339A>T
c.581A>T (p.Asp194Val)
c.962A>T (p.Asp321Val)
c.704A>T (p.Asp235Val)
n.84A>T
c.565A>T
n.1235A>T
n.1202A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11111539C>ACA404083260LDLRc.1344C>A (p.Asp448Glu)
c.1086C>A (p.Asp362Glu)
c.966C>A (p.Asp322Glu)
c.1340C>A
c.582C>A (p.Asp194Glu)
c.963C>A (p.Asp321Glu)
c.705C>A (p.Asp235Glu)
n.85C>A
c.566C>A
n.1236C>A
n.1203C>A
19g.11111539C>GCA404083263LDLRc.1344C>G (p.Asp448Glu)
c.1086C>G (p.Asp362Glu)
c.966C>G (p.Asp322Glu)
c.1340C>G
c.582C>G (p.Asp194Glu)
c.963C>G (p.Asp321Glu)
c.705C>G (p.Asp235Glu)
n.85C>G
c.566C>G
n.1236C>G
n.1203C>G

Number of alleles fetched