Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68433606_68433657dupCA599954291LRP5c.3768_3819dup (p.Ile1274AlafsTer25)
c.*2374_*2425dup (n.*2374_*2425dup)
c.2025_2076dup (p.Ile693AlafsTer25)
c.3795_3846dup (p.Ile1283AlafsTer25)
n.3810_3861dup
c.1308_1359dup (p.Ile454AlafsTer25)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.68433628T>ACA381613622LRP5c.3790T>A (p.Phe1264Ile)
c.*2396T>A (n.*2396T>A)
c.2047T>A (p.Phe683Ile)
c.3817T>A (p.Phe1273Ile)
n.3832T>A
c.1330T>A (p.Phe444Ile)
11g.68433628T>CCA381613623LRP5c.3790T>C (p.Phe1264Leu)
c.*2396T>C (n.*2396T>C)
c.2047T>C (p.Phe683Leu)
c.3817T>C (p.Phe1273Leu)
n.3832T>C
c.1330T>C (p.Phe444Leu)
11g.68433628T>GCA381613624LRP5c.3790T>G (p.Phe1264Val)
c.*2396T>G (n.*2396T>G)
c.2047T>G (p.Phe683Val)
c.3817T>G (p.Phe1273Val)
n.3832T>G
c.1330T>G (p.Phe444Val)
11g.68433629T>ACA381613625LRP5c.3791T>A (p.Phe1264Tyr)
c.*2397T>A (n.*2397T>A)
c.2048T>A (p.Phe683Tyr)
c.3818T>A (p.Phe1273Tyr)
n.3833T>A
c.1331T>A (p.Phe444Tyr)
11g.68433629T>CCA381613626LRP5c.3791T>C (p.Phe1264Ser)
c.*2397T>C (n.*2397T>C)
c.2048T>C (p.Phe683Ser)
c.3818T>C (p.Phe1273Ser)
n.3833T>C
c.1331T>C (p.Phe444Ser)
gnomAD v4
11g.68433629T>GCA381613627LRP5c.3791T>G (p.Phe1264Cys)
c.*2397T>G (n.*2397T>G)
c.2048T>G (p.Phe683Cys)
c.3818T>G (p.Phe1273Cys)
n.3833T>G
c.1331T>G (p.Phe444Cys)
11g.68433630T>ACA381613628LRP5c.3792T>A (p.Phe1264Leu)
c.*2398T>A (n.*2398T>A)
c.2049T>A (p.Phe683Leu)
c.3819T>A (p.Phe1273Leu)
n.3834T>A
c.1332T>A (p.Phe444Leu)
COSMIC
11g.68433630T>CCA475460630LRP5c.3792T>C (p.Phe1264=)
c.*2398T>C (n.*2398T>C)
c.2049T>C (p.Phe683=)
c.3819T>C (p.Phe1273=)
n.3834T>C
c.1332T>C (p.Phe444=)
11g.68433630T>GCA381613629LRP5c.3792T>G (p.Phe1264Leu)
c.*2398T>G (n.*2398T>G)
c.2049T>G (p.Phe683Leu)
c.3819T>G (p.Phe1273Leu)
n.3834T>G
c.1332T>G (p.Phe444Leu)
11g.68433631G>ACA381613631LRP5c.3793G>A (p.Ala1265Thr)
c.*2399G>A (n.*2399G>A)
c.2050G>A (p.Ala684Thr)
c.3820G>A (p.Ala1274Thr)
n.3835G>A
c.1333G>A (p.Ala445Thr)
gnomAD v4
11g.68433631G>CCA6150119LRP5c.3793G>C (p.Ala1265Pro)
c.*2399G>C (n.*2399G>C)
c.2050G>C (p.Ala684Pro)
c.3820G>C (p.Ala1274Pro)
n.3835G>C
c.1333G>C (p.Ala445Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433631G=CA1980621994LRP5c.3793G= (p.Ala1265=)
c.*2399G= (n.*2399G=)
c.2050G= (p.Ala684=)
c.3820G= (p.Ala1274=)
n.3835G=
c.1333G= (p.Ala445=)
11g.68433631G>TCA381613630LRP5c.3793G>T (p.Ala1265Ser)
c.*2399G>T (n.*2399G>T)
c.2050G>T (p.Ala684Ser)
c.3820G>T (p.Ala1274Ser)
n.3835G>T
c.1333G>T (p.Ala445Ser)
dbSNP gnomAD v4
11g.68433632C>ACA381613632LRP5c.3794C>A (p.Ala1265Glu)
c.*2400C>A (n.*2400C>A)
c.2051C>A (p.Ala684Glu)
c.3821C>A (p.Ala1274Glu)
n.3836C>A
c.1334C>A (p.Ala445Glu)
11g.68433632C=CA1980622006LRP5c.3794C= (p.Ala1265=)
c.*2400C= (n.*2400C=)
c.2051C= (p.Ala684=)
c.3821C= (p.Ala1274=)
n.3836C=
c.1334C= (p.Ala445=)
11g.68433632C>GCA381613633LRP5c.3794C>G (p.Ala1265Gly)
c.*2400C>G (n.*2400C>G)
c.2051C>G (p.Ala684Gly)
c.3821C>G (p.Ala1274Gly)
n.3836C>G
c.1334C>G (p.Ala445Gly)
11g.68433632C>TCA224250755LRP5c.3794C>T (p.Ala1265Val)
c.*2400C>T (n.*2400C>T)
c.2051C>T (p.Ala684Val)
c.3821C>T (p.Ala1274Val)
n.3836C>T
c.1334C>T (p.Ala445Val)
dbSNP gnomAD v4
11g.68433633A=CA1980622009LRP5c.3795A= (p.Ala1265=)
c.*2401A= (n.*2401A=)
c.2052A= (p.Ala684=)
c.3822A= (p.Ala1274=)
n.3837A=
c.1335A= (p.Ala445=)
11g.68433633A>CCA475460634LRP5c.3795A>C (p.Ala1265=)
c.*2401A>C (n.*2401A>C)
c.2052A>C (p.Ala684=)
c.3822A>C (p.Ala1274=)
n.3837A>C
c.1335A>C (p.Ala445=)
11g.68433633A>GCA475460635LRP5c.3795A>G (p.Ala1265=)
c.*2401A>G (n.*2401A>G)
c.2052A>G (p.Ala684=)
c.3822A>G (p.Ala1274=)
n.3837A>G
c.1335A>G (p.Ala445=)
ClinVar dbSNP
11g.68433633A>TCA475460637LRP5c.3795A>T (p.Ala1265=)
c.*2401A>T (n.*2401A>T)
c.2052A>T (p.Ala684=)
c.3822A>T (p.Ala1274=)
n.3837A>T
c.1335A>T (p.Ala445=)
dbSNP gnomAD v2 gnomAD v4
11g.68433634T>ACA381613634LRP5c.3796T>A (p.Cys1266Ser)
c.*2402T>A (n.*2402T>A)
c.2053T>A (p.Cys685Ser)
c.3823T>A (p.Cys1275Ser)
n.3838T>A
c.1336T>A (p.Cys446Ser)
11g.68433634T>CCA381613635LRP5c.3796T>C (p.Cys1266Arg)
c.*2402T>C (n.*2402T>C)
c.2053T>C (p.Cys685Arg)
c.3823T>C (p.Cys1275Arg)
n.3838T>C
c.1336T>C (p.Cys446Arg)
11g.68433634T>GCA381613636LRP5c.3796T>G (p.Cys1266Gly)
c.*2402T>G (n.*2402T>G)
c.2053T>G (p.Cys685Gly)
c.3823T>G (p.Cys1275Gly)
n.3838T>G
c.1336T>G (p.Cys446Gly)
11g.68433635G>ACA381613637LRP5c.3797G>A (p.Cys1266Tyr)
c.*2403G>A (n.*2403G>A)
c.2054G>A (p.Cys685Tyr)
c.3824G>A (p.Cys1275Tyr)
n.3839G>A
c.1337G>A (p.Cys446Tyr)
11g.68433635G>CCA381613638LRP5c.3797G>C (p.Cys1266Ser)
c.*2403G>C (n.*2403G>C)
c.2054G>C (p.Cys685Ser)
c.3824G>C (p.Cys1275Ser)
n.3839G>C
c.1337G>C (p.Cys446Ser)
11g.68433635G>TCA381613639LRP5c.3797G>T (p.Cys1266Phe)
c.*2403G>T (n.*2403G>T)
c.2054G>T (p.Cys685Phe)
c.3824G>T (p.Cys1275Phe)
n.3839G>T
c.1337G>T (p.Cys446Phe)
11g.68433636T>ACA381613640LRP5c.3798T>A (p.Cys1266Ter)
c.*2404T>A (n.*2404T>A)
c.2055T>A (p.Cys685Ter)
c.3825T>A (p.Cys1275Ter)
n.3840T>A
c.1338T>A (p.Cys446Ter)
11g.68433636T>CCA475460638LRP5c.3798T>C (p.Cys1266=)
c.*2404T>C (n.*2404T>C)
c.2055T>C (p.Cys685=)
c.3825T>C (p.Cys1275=)
n.3840T>C
c.1338T>C (p.Cys446=)
11g.68433636T>GCA381613641LRP5c.3798T>G (p.Cys1266Trp)
c.*2404T>G (n.*2404T>G)
c.2055T>G (p.Cys685Trp)
c.3825T>G (p.Cys1275Trp)
n.3840T>G
c.1338T>G (p.Cys446Trp)
11g.68433637G>ACA381613642LRP5c.3799G>A (p.Ala1267Thr)
c.*2405G>A (n.*2405G>A)
c.2056G>A (p.Ala686Thr)
c.3826G>A (p.Ala1276Thr)
n.3841G>A
c.1339G>A (p.Ala447Thr)
11g.68433637G>CCA381613643LRP5c.3799G>C (p.Ala1267Pro)
c.*2405G>C (n.*2405G>C)
c.2056G>C (p.Ala686Pro)
c.3826G>C (p.Ala1276Pro)
n.3841G>C
c.1339G>C (p.Ala447Pro)
11g.68433637G>TCA381613644LRP5c.3799G>T (p.Ala1267Ser)
c.*2405G>T (n.*2405G>T)
c.2056G>T (p.Ala686Ser)
c.3826G>T (p.Ala1276Ser)
n.3841G>T
c.1339G>T (p.Ala447Ser)
11g.68433638C>ACA381613646LRP5c.3800C>A (p.Ala1267Asp)
c.*2406C>A (n.*2406C>A)
c.2057C>A (p.Ala686Asp)
c.3827C>A (p.Ala1276Asp)
n.3842C>A
c.1340C>A (p.Ala447Asp)
11g.68433638C>GCA381613647LRP5c.3800C>G (p.Ala1267Gly)
c.*2406C>G (n.*2406C>G)
c.2057C>G (p.Ala686Gly)
c.3827C>G (p.Ala1276Gly)
n.3842C>G
c.1340C>G (p.Ala447Gly)
gnomAD v4
11g.68433638C>TCA381613645LRP5c.3800C>T (p.Ala1267Val)
c.*2406C>T (n.*2406C>T)
c.2057C>T (p.Ala686Val)
c.3827C>T (p.Ala1276Val)
n.3842C>T
c.1340C>T (p.Ala447Val)
11g.68433639C>ACA475460641LRP5c.3801C>A (p.Ala1267=)
c.*2407C>A (n.*2407C>A)
c.2058C>A (p.Ala686=)
c.3828C>A (p.Ala1276=)
n.3843C>A
c.1341C>A (p.Ala447=)
11g.68433639C>GCA475460642LRP5c.3801C>G (p.Ala1267=)
c.*2407C>G (n.*2407C>G)
c.2058C>G (p.Ala686=)
c.3828C>G (p.Ala1276=)
n.3843C>G
c.1341C>G (p.Ala447=)
11g.68433639C>TCA475460643LRP5c.3801C>T (p.Ala1267=)
c.*2407C>T (n.*2407C>T)
c.2058C>T (p.Ala686=)
c.3828C>T (p.Ala1276=)
n.3843C>T
c.1341C>T (p.Ala447=)
11g.68433640A>CCA381613648LRP5c.3802A>C (p.Thr1268Pro)
c.*2408A>C (n.*2408A>C)
c.2059A>C (p.Thr687Pro)
c.3829A>C (p.Thr1277Pro)
n.3844A>C
c.1342A>C (p.Thr448Pro)
11g.68433640A>GCA381613649LRP5c.3802A>G (p.Thr1268Ala)
c.*2408A>G (n.*2408A>G)
c.2059A>G (p.Thr687Ala)
c.3829A>G (p.Thr1277Ala)
n.3844A>G
c.1342A>G (p.Thr448Ala)
11g.68433640A>TCA381613650LRP5c.3802A>T (p.Thr1268Ser)
c.*2408A>T (n.*2408A>T)
c.2059A>T (p.Thr687Ser)
c.3829A>T (p.Thr1277Ser)
n.3844A>T
c.1342A>T (p.Thr448Ser)
11g.68433641C>ACA381613651LRP5c.3803C>A (p.Thr1268Lys)
c.*2409C>A (n.*2409C>A)
c.2060C>A (p.Thr687Lys)
c.3830C>A (p.Thr1277Lys)
n.3845C>A
c.1343C>A (p.Thr448Lys)
11g.68433641C=CA1980622015LRP5c.3803C= (p.Thr1268=)
c.*2409C= (n.*2409C=)
c.2060C= (p.Thr687=)
c.3830C= (p.Thr1277=)
n.3845C=
c.1343C= (p.Thr448=)
11g.68433641C>GCA381613652LRP5c.3803C>G (p.Thr1268Arg)
c.*2409C>G (n.*2409C>G)
c.2060C>G (p.Thr687Arg)
c.3830C>G (p.Thr1277Arg)
n.3845C>G
c.1343C>G (p.Thr448Arg)
dbSNP
11g.68433641C>TCA381613653LRP5c.3803C>T (p.Thr1268Ile)
c.*2409C>T (n.*2409C>T)
c.2060C>T (p.Thr687Ile)
c.3830C>T (p.Thr1277Ile)
n.3845C>T
c.1343C>T (p.Thr448Ile)
11g.68433641_68433642delinsCACA1980622012LRP5c.3803_3804delinsCA (p.Thr1268=)
c.*2409_*2410delinsCA (n.*2409_*2410delinsCA)
c.2060_2061delinsCA (p.Thr687=)
c.3830_3831delinsCA (p.Thr1277=)
n.3845_3846delinsCA
c.1343_1344delinsCA (p.Thr448=)
11g.68433642delCA224250766LRP5c.3804del (p.Glu1270ArgfsTer?)
c.*2410del (n.*2410del)
c.2061del (p.Glu689ArgfsTer?)
c.3831del (p.Glu1279ArgfsTer?)
n.3846del
c.1344del (p.Glu450ArgfsTer?)
ClinVar dbSNP
11g.68433642A=CA1980622017LRP5c.3804A= (p.Thr1268=)
c.*2410A= (n.*2410A=)
c.2061A= (p.Thr687=)
c.3831A= (p.Thr1277=)
n.3846A=
c.1344A= (p.Thr448=)

Number of alleles fetched