Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68433746T>ACA381613879LRP5c.3908T>A (p.Phe1303Tyr)
c.*2514T>A (n.*2514T>A)
c.2165T>A (p.Phe722Tyr)
c.3935T>A (p.Phe1312Tyr)
n.3950T>A
c.1448T>A (p.Phe483Tyr)
11g.68433746T>CCA381613881LRP5c.3908T>C (p.Phe1303Ser)
c.*2514T>C (n.*2514T>C)
c.2165T>C (p.Phe722Ser)
c.3935T>C (p.Phe1312Ser)
n.3950T>C
c.1448T>C (p.Phe483Ser)
11g.68433746T>GCA381613880LRP5c.3908T>G (p.Phe1303Cys)
c.*2514T>G (n.*2514T>G)
c.2165T>G (p.Phe722Cys)
c.3935T>G (p.Phe1312Cys)
n.3950T>G
c.1448T>G (p.Phe483Cys)
11g.68433747C>ACA381613882LRP5c.3909C>A (p.Phe1303Leu)
c.*2515C>A (n.*2515C>A)
c.2166C>A (p.Phe722Leu)
c.3936C>A (p.Phe1312Leu)
n.3951C>A
c.1449C>A (p.Phe483Leu)
11g.68433747C>GCA381613883LRP5c.3909C>G (p.Phe1303Leu)
c.*2515C>G (n.*2515C>G)
c.2166C>G (p.Phe722Leu)
c.3936C>G (p.Phe1312Leu)
n.3951C>G
c.1449C>G (p.Phe483Leu)
11g.68433747C>TCA475460792LRP5c.3909C>T (p.Phe1303=)
c.*2515C>T (n.*2515C>T)
c.2166C>T (p.Phe722=)
c.3936C>T (p.Phe1312=)
n.3951C>T
c.1449C>T (p.Phe483=)
 COSMIC
11g.68433748C>ACA381613884LRP5c.3910C>A (p.Pro1304Thr)
c.*2516C>A (n.*2516C>A)
c.2167C>A (p.Pro723Thr)
c.3937C>A (p.Pro1313Thr)
n.3952C>A
c.1450C>A (p.Pro484Thr)
11g.68433748C=CA1980622342LRP5c.3910C= (p.Pro1304=)
c.*2516C= (n.*2516C=)
c.2167C= (p.Pro723=)
c.3937C= (p.Pro1313=)
n.3952C=
c.1450C= (p.Pro484=)
11g.68433748C>GCA381613885LRP5c.3910C>G (p.Pro1304Ala)
c.*2516C>G (n.*2516C>G)
c.2167C>G (p.Pro723Ala)
c.3937C>G (p.Pro1313Ala)
n.3952C>G
c.1450C>G (p.Pro484Ala)
11g.68433748C>TCA6150149LRP5c.3910C>T (p.Pro1304Ser)
c.*2516C>T (n.*2516C>T)
c.2167C>T (p.Pro723Ser)
c.3937C>T (p.Pro1313Ser)
n.3952C>T
c.1450C>T (p.Pro484Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68433749C>ACA381613886LRP5c.3911C>A (p.Pro1304His)
c.*2517C>A (n.*2517C>A)
c.2168C>A (p.Pro723His)
c.3938C>A (p.Pro1313His)
n.3953C>A
c.1451C>A (p.Pro484His)
11g.68433749C=CA1980622346LRP5c.3911C= (p.Pro1304=)
c.*2517C= (n.*2517C=)
c.2168C= (p.Pro723=)
c.3938C= (p.Pro1313=)
n.3953C=
c.1451C= (p.Pro484=)
11g.68433749C>GCA381613887LRP5c.3911C>G (p.Pro1304Arg)
c.*2517C>G (n.*2517C>G)
c.2168C>G (p.Pro723Arg)
c.3938C>G (p.Pro1313Arg)
n.3953C>G
c.1451C>G (p.Pro484Arg)
11g.68433749C>TCA6150150LRP5c.3911C>T (p.Pro1304Leu)
c.*2517C>T (n.*2517C>T)
c.2168C>T (p.Pro723Leu)
c.3938C>T (p.Pro1313Leu)
n.3953C>T
c.1451C>T (p.Pro484Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433750C>ACA475460793LRP5c.3912C>A (p.Pro1304=)
c.*2518C>A (n.*2518C>A)
c.2169C>A (p.Pro723=)
c.3939C>A (p.Pro1313=)
n.3954C>A
c.1452C>A (p.Pro484=)
11g.68433750C>GCA475460795LRP5c.3912C>G (p.Pro1304=)
c.*2518C>G (n.*2518C>G)
c.2169C>G (p.Pro723=)
c.3939C>G (p.Pro1313=)
n.3954C>G
c.1452C>G (p.Pro484=)
11g.68433750C>TCA475460794LRP5c.3912C>T (p.Pro1304=)
c.*2518C>T (n.*2518C>T)
c.2169C>T (p.Pro723=)
c.3939C>T (p.Pro1313=)
n.3954C>T
c.1452C>T (p.Pro484=)
11g.68433751T>ACA381613888LRP5c.3913T>A (p.Cys1305Ser)
c.*2519T>A (n.*2519T>A)
c.2170T>A (p.Cys724Ser)
c.3940T>A (p.Cys1314Ser)
n.3955T>A
c.1453T>A (p.Cys485Ser)
11g.68433751T>CCA381613889LRP5c.3913T>C (p.Cys1305Arg)
c.*2519T>C (n.*2519T>C)
c.2170T>C (p.Cys724Arg)
c.3940T>C (p.Cys1314Arg)
n.3955T>C
c.1453T>C (p.Cys485Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.68433751T>GCA381613890LRP5c.3913T>G (p.Cys1305Gly)
c.*2519T>G (n.*2519T>G)
c.2170T>G (p.Cys724Gly)
c.3940T>G (p.Cys1314Gly)
n.3955T>G
c.1453T>G (p.Cys485Gly)
11g.68433751T=CA1980622350LRP5c.3913T= (p.Cys1305=)
c.*2519T= (n.*2519T=)
c.2170T= (p.Cys724=)
c.3940T= (p.Cys1314=)
n.3955T=
c.1453T= (p.Cys485=)
11g.68433752G>ACA381613892LRP5c.3914G>A (p.Cys1305Tyr)
c.*2520G>A (n.*2520G>A)
c.2171G>A (p.Cys724Tyr)
c.3941G>A (p.Cys1314Tyr)
n.3956G>A
c.1454G>A (p.Cys485Tyr)
 ClinVar dbSNP COSMIC
11g.68433752G>CCA381613893LRP5c.3914G>C (p.Cys1305Ser)
c.*2520G>C (n.*2520G>C)
c.2171G>C (p.Cys724Ser)
c.3941G>C (p.Cys1314Ser)
n.3956G>C
c.1454G>C (p.Cys485Ser)
11g.68433752G>TCA381613891LRP5c.3914G>T (p.Cys1305Phe)
c.*2520G>T (n.*2520G>T)
c.2171G>T (p.Cys724Phe)
c.3941G>T (p.Cys1314Phe)
n.3956G>T
c.1454G>T (p.Cys485Phe)
11g.68433757_68433758dupCA2614715652LRP5c.3919_3920dup (p.Gln1309ValfsTer?)
c.*2525_*2526dup (n.*2525_*2526dup)
c.2176_2177dup (p.Gln728ValfsTer?)
c.3946_3947dup (p.Gln1318ValfsTer?)
n.3961_3962dup
c.1459_1460dup (p.Gln489ValfsTer?)
 gnomAD v4
11g.68433753C>ACA381613895LRP5c.3915C>A (p.Cys1305Ter)
c.*2521C>A (n.*2521C>A)
c.2172C>A (p.Cys724Ter)
c.3942C>A (p.Cys1314Ter)
n.3957C>A
c.1455C>A (p.Cys485Ter)
11g.68433753C=CA1980622364LRP5c.3915C= (p.Cys1305=)
c.*2521C= (n.*2521C=)
c.2172C= (p.Cys724=)
c.3942C= (p.Cys1314=)
n.3957C=
c.1455C= (p.Cys485=)
11g.68433753C>GCA381613894LRP5c.3915C>G (p.Cys1305Trp)
c.*2521C>G (n.*2521C>G)
c.2172C>G (p.Cys724Trp)
c.3942C>G (p.Cys1314Trp)
n.3957C>G
c.1455C>G (p.Cys485Trp)
11g.68433753C>TCA6150151LRP5c.3915C>T (p.Cys1305=)
c.*2521C>T (n.*2521C>T)
c.2172C>T (p.Cys724=)
c.3942C>T (p.Cys1314=)
n.3957C>T
c.1455C>T (p.Cys485=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433754G>ACA6150152LRP5c.3916G>A (p.Ala1306Thr)
c.*2522G>A (n.*2522G>A)
c.2173G>A (p.Ala725Thr)
c.3943G>A (p.Ala1315Thr)
n.3958G>A
c.1456G>A (p.Ala486Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433754G>CCA381613896LRP5c.3916G>C (p.Ala1306Pro)
c.*2522G>C (n.*2522G>C)
c.2173G>C (p.Ala725Pro)
c.3943G>C (p.Ala1315Pro)
n.3958G>C
c.1456G>C (p.Ala486Pro)
11g.68433754G=CA1980622372LRP5c.3916G= (p.Ala1306=)
c.*2522G= (n.*2522G=)
c.2173G= (p.Ala725=)
c.3943G= (p.Ala1315=)
n.3958G=
c.1456G= (p.Ala486=)
11g.68433754G>TCA381613897LRP5c.3916G>T (p.Ala1306Ser)
c.*2522G>T (n.*2522G>T)
c.2173G>T (p.Ala725Ser)
c.3943G>T (p.Ala1315Ser)
n.3958G>T
c.1456G>T (p.Ala486Ser)
 ClinVar dbSNP gnomAD v2
11g.68433755C>ACA6150154LRP5c.3917C>A (p.Ala1306Glu)
c.*2523C>A (n.*2523C>A)
c.2174C>A (p.Ala725Glu)
c.3944C>A (p.Ala1315Glu)
n.3959C>A
c.1457C>A (p.Ala486Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68433755C=CA1980622376LRP5c.3917C= (p.Ala1306=)
c.*2523C= (n.*2523C=)
c.2174C= (p.Ala725=)
c.3944C= (p.Ala1315=)
n.3959C=
c.1457C= (p.Ala486=)
11g.68433755C>GCA381613898LRP5c.3917C>G (p.Ala1306Gly)
c.*2523C>G (n.*2523C>G)
c.2174C>G (p.Ala725Gly)
c.3944C>G (p.Ala1315Gly)
n.3959C>G
c.1457C>G (p.Ala486Gly)
11g.68433755C>TCA6150153LRP5c.3917C>T (p.Ala1306Val)
c.*2523C>T (n.*2523C>T)
c.2174C>T (p.Ala725Val)
c.3944C>T (p.Ala1315Val)
n.3959C>T
c.1457C>T (p.Ala486Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433756G>ACA6150155LRP5c.3918G>A (p.Ala1306=)
c.*2524G>A (n.*2524G>A)
c.2175G>A (p.Ala725=)
c.3945G>A (p.Ala1315=)
n.3960G>A
c.1458G>A (p.Ala486=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433756G>CCA475460796LRP5c.3918G>C (p.Ala1306=)
c.*2524G>C (n.*2524G>C)
c.2175G>C (p.Ala725=)
c.3945G>C (p.Ala1315=)
n.3960G>C
c.1458G>C (p.Ala486=)
 ClinVar
11g.68433756G=CA1980622380LRP5c.3918G= (p.Ala1306=)
c.*2524G= (n.*2524G=)
c.2175G= (p.Ala725=)
c.3945G= (p.Ala1315=)
n.3960G=
c.1458G= (p.Ala486=)
11g.68433756G>TCA6150156LRP5c.3918G>T (p.Ala1306=)
c.*2524G>T (n.*2524G>T)
c.2175G>T (p.Ala725=)
c.3945G>T (p.Ala1315=)
n.3960G>T
c.1458G>T (p.Ala486=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.68433757C>ACA475460797LRP5c.3919C>A (p.Arg1307=)
c.*2525C>A (n.*2525C>A)
c.2176C>A (p.Arg726=)
c.3946C>A (p.Arg1316=)
n.3961C>A
c.1459C>A (p.Arg487=)
 gnomAD v4
11g.68433757C=CA1980622391LRP5c.3919C= (p.Arg1307=)
c.*2525C= (n.*2525C=)
c.2176C= (p.Arg726=)
c.3946C= (p.Arg1316=)
n.3961C=
c.1459C= (p.Arg487=)
11g.68433757C>GCA381613899LRP5c.3919C>G (p.Arg1307Gly)
c.*2525C>G (n.*2525C>G)
c.2176C>G (p.Arg726Gly)
c.3946C>G (p.Arg1316Gly)
n.3961C>G
c.1459C>G (p.Arg487Gly)
11g.68433757C>TCA6150157LRP5c.3919C>T (p.Arg1307Trp)
c.*2525C>T (n.*2525C>T)
c.2176C>T (p.Arg726Trp)
c.3946C>T (p.Arg1316Trp)
n.3961C>T
c.1459C>T (p.Arg487Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433758G>ACA6150158LRP5c.3920G>A (p.Arg1307Gln)
c.*2526G>A (n.*2526G>A)
c.2177G>A (p.Arg726Gln)
c.3947G>A (p.Arg1316Gln)
n.3962G>A
c.1460G>A (p.Arg487Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433758G>CCA381613900LRP5c.3920G>C (p.Arg1307Pro)
c.*2526G>C (n.*2526G>C)
c.2177G>C (p.Arg726Pro)
c.3947G>C (p.Arg1316Pro)
n.3962G>C
c.1460G>C (p.Arg487Pro)
 COSMIC
11g.68433758G=CA1980622398LRP5c.3920G= (p.Arg1307=)
c.*2526G= (n.*2526G=)
c.2177G= (p.Arg726=)
c.3947G= (p.Arg1316=)
n.3962G=
c.1460G= (p.Arg487=)
11g.68433758G>TCA381613901LRP5c.3920G>T (p.Arg1307Leu)
c.*2526G>T (n.*2526G>T)
c.2177G>T (p.Arg726Leu)
c.3947G>T (p.Arg1316Leu)
n.3962G>T
c.1460G>T (p.Arg487Leu)
 gnomAD v4
11g.68433759G>ACA475460800LRP5c.3921G>A (p.Arg1307=)
c.*2527G>A (n.*2527G>A)
c.2178G>A (p.Arg726=)
c.3948G>A (p.Arg1316=)
n.3963G>A
c.1461G>A (p.Arg487=)
11g.68433759G>CCA475460798LRP5c.3921G>C (p.Arg1307=)
c.*2527G>C (n.*2527G>C)
c.2178G>C (p.Arg726=)
c.3948G>C (p.Arg1316=)
n.3963G>C
c.1461G>C (p.Arg487=)
11g.68433759G>TCA475460799LRP5c.3921G>T (p.Arg1307=)
c.*2527G>T (n.*2527G>T)
c.2178G>T (p.Arg726=)
c.3948G>T (p.Arg1316=)
n.3963G>T
c.1461G>T (p.Arg487=)
11g.68433760G>ACA6150159LRP5c.3922G>A (p.Gly1308Ser)
c.*2528G>A (n.*2528G>A)
c.2179G>A (p.Gly727Ser)
c.3949G>A (p.Gly1317Ser)
n.3964G>A
c.1462G>A (p.Gly488Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433760G>CCA381613902LRP5c.3922G>C (p.Gly1308Arg)
c.*2528G>C (n.*2528G>C)
c.2179G>C (p.Gly727Arg)
c.3949G>C (p.Gly1317Arg)
n.3964G>C
c.1462G>C (p.Gly488Arg)
11g.68433760G=CA1980622405LRP5c.3922G= (p.Gly1308=)
c.*2528G= (n.*2528G=)
c.2179G= (p.Gly727=)
c.3949G= (p.Gly1317=)
n.3964G=
c.1462G= (p.Gly488=)
11g.68433760G>TCA381613903LRP5c.3922G>T (p.Gly1308Cys)
c.*2528G>T (n.*2528G>T)
c.2179G>T (p.Gly727Cys)
c.3949G>T (p.Gly1317Cys)
n.3964G>T
c.1462G>T (p.Gly488Cys)
11g.68433761G>ACA381613904LRP5c.3923G>A (p.Gly1308Asp)
c.*2529G>A (n.*2529G>A)
c.2180G>A (p.Gly727Asp)
c.3950G>A (p.Gly1317Asp)
n.3965G>A
c.1463G>A (p.Gly488Asp)
11g.68433761G>CCA381613905LRP5c.3923G>C (p.Gly1308Ala)
c.*2529G>C (n.*2529G>C)
c.2180G>C (p.Gly727Ala)
c.3950G>C (p.Gly1317Ala)
n.3965G>C
c.1463G>C (p.Gly488Ala)
11g.68433761G>TCA381613906LRP5c.3923G>T (p.Gly1308Val)
c.*2529G>T (n.*2529G>T)
c.2180G>T (p.Gly727Val)
c.3950G>T (p.Gly1317Val)
n.3965G>T
c.1463G>T (p.Gly488Val)
11g.68433762T>ACA475460801LRP5c.3924T>A (p.Gly1308=)
c.*2530T>A (n.*2530T>A)
c.2181T>A (p.Gly727=)
c.3951T>A (p.Gly1317=)
n.3966T>A
c.1464T>A (p.Gly488=)
11g.68433762T>CCA475460802LRP5c.3924T>C (p.Gly1308=)
c.*2530T>C (n.*2530T>C)
c.2181T>C (p.Gly727=)
c.3951T>C (p.Gly1317=)
n.3966T>C
c.1464T>C (p.Gly488=)
 dbSNP
11g.68433762T>GCA475460803LRP5c.3924T>G (p.Gly1308=)
c.*2530T>G (n.*2530T>G)
c.2181T>G (p.Gly727=)
c.3951T>G (p.Gly1317=)
n.3966T>G
c.1464T>G (p.Gly488=)
11g.68433763C>ACA381613907LRP5c.3925C>A (p.Gln1309Lys)
c.*2531C>A (n.*2531C>A)
c.2182C>A (p.Gln728Lys)
c.3952C>A (p.Gln1318Lys)
n.3967C>A
c.1465C>A (p.Gln489Lys)
11g.68433763C=CA1980622409LRP5c.3925C= (p.Gln1309=)
c.*2531C= (n.*2531C=)
c.2182C= (p.Gln728=)
c.3952C= (p.Gln1318=)
n.3967C=
c.1465C= (p.Gln489=)
11g.68433763C>GCA381613908LRP5c.3925C>G (p.Gln1309Glu)
c.*2531C>G (n.*2531C>G)
c.2182C>G (p.Gln728Glu)
c.3952C>G (p.Gln1318Glu)
n.3967C>G
c.1465C>G (p.Gln489Glu)
11g.68433763C>TCA6150160LRP5c.3925C>T (p.Gln1309Ter)
c.*2531C>T (n.*2531C>T)
c.2182C>T (p.Gln728Ter)
c.3952C>T (p.Gln1318Ter)
n.3967C>T
c.1465C>T (p.Gln489Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68433764A=CA1980622413LRP5c.3926A= (p.Gln1309=)
c.*2532A= (n.*2532A=)
c.2183A= (p.Gln728=)
c.3953A= (p.Gln1318=)
n.3968A=
c.1466A= (p.Gln489=)
11g.68433764A>CCA381613911LRP5c.3926A>C (p.Gln1309Pro)
c.*2532A>C (n.*2532A>C)
c.2183A>C (p.Gln728Pro)
c.3953A>C (p.Gln1318Pro)
n.3968A>C
c.1466A>C (p.Gln489Pro)
11g.68433764A>GCA381613909LRP5c.3926A>G (p.Gln1309Arg)
c.*2532A>G (n.*2532A>G)
c.2183A>G (p.Gln728Arg)
c.3953A>G (p.Gln1318Arg)
n.3968A>G
c.1466A>G (p.Gln489Arg)
 dbSNP
11g.68433764A>TCA381613910LRP5c.3926A>T (p.Gln1309Leu)
c.*2532A>T (n.*2532A>T)
c.2183A>T (p.Gln728Leu)
c.3953A>T (p.Gln1318Leu)
n.3968A>T
c.1466A>T (p.Gln489Leu)
 gnomAD v4
11g.68433765G>ACA475460806LRP5c.3927G>A (p.Gln1309=)
c.*2533G>A (n.*2533G>A)
c.2184G>A (p.Gln728=)
c.3954G>A (p.Gln1318=)
n.3969G>A
c.1467G>A (p.Gln489=)
 ClinVar dbSNP
11g.68433765G>CCA381613912LRP5c.3927G>C (p.Gln1309His)
c.*2533G>C (n.*2533G>C)
c.2184G>C (p.Gln728His)
c.3954G>C (p.Gln1318His)
n.3969G>C
c.1467G>C (p.Gln489His)
11g.68433765G=CA1980622417LRP5c.3927G= (p.Gln1309=)
c.*2533G= (n.*2533G=)
c.2184G= (p.Gln728=)
c.3954G= (p.Gln1318=)
n.3969G=
c.1467G= (p.Gln489=)
11g.68433765G>TCA381613913LRP5c.3927G>T (p.Gln1309His)
c.*2533G>T (n.*2533G>T)
c.2184G>T (p.Gln728His)
c.3954G>T (p.Gln1318His)
n.3969G>T
c.1467G>T (p.Gln489His)
11g.68433766T>ACA381613914LRP5c.3928T>A (p.Cys1310Ser)
c.*2534T>A (n.*2534T>A)
c.2185T>A (p.Cys729Ser)
c.3955T>A (p.Cys1319Ser)
n.3970T>A
c.1468T>A (p.Cys490Ser)
11g.68433766T>CCA381613915LRP5c.3928T>C (p.Cys1310Arg)
c.*2534T>C (n.*2534T>C)
c.2185T>C (p.Cys729Arg)
c.3955T>C (p.Cys1319Arg)
n.3970T>C
c.1468T>C (p.Cys490Arg)
 dbSNP
11g.68433766T>GCA381613916LRP5c.3928T>G (p.Cys1310Gly)
c.*2534T>G (n.*2534T>G)
c.2185T>G (p.Cys729Gly)
c.3955T>G (p.Cys1319Gly)
n.3970T>G
c.1468T>G (p.Cys490Gly)
11g.68433766T=CA1980622419LRP5c.3928T= (p.Cys1310=)
c.*2534T= (n.*2534T=)
c.2185T= (p.Cys729=)
c.3955T= (p.Cys1319=)
n.3970T=
c.1468T= (p.Cys490=)
11g.68433768_68433783dupCA2614715653LRP5c.3930_3945dup (p.Arg1316CysfsTer23)
c.*2536_*2551dup (n.*2536_*2551dup)
c.2187_2202dup (p.Arg735CysfsTer23)
c.3957_3972dup (p.Arg1325CysfsTer23)
n.3972_3987dup
c.1470_1485dup (p.Arg496CysfsTer23)
 gnomAD v4
11g.68433767G>ACA381613917LRP5c.3929G>A (p.Cys1310Tyr)
c.*2535G>A (n.*2535G>A)
c.2186G>A (p.Cys729Tyr)
c.3956G>A (p.Cys1319Tyr)
n.3971G>A
c.1469G>A (p.Cys490Tyr)
 dbSNP gnomAD v2 gnomAD v4
11g.68433767G>CCA381613919LRP5c.3929G>C (p.Cys1310Ser)
c.*2535G>C (n.*2535G>C)
c.2186G>C (p.Cys729Ser)
c.3956G>C (p.Cys1319Ser)
n.3971G>C
c.1469G>C (p.Cys490Ser)
11g.68433767G=CA1980622425LRP5c.3929G= (p.Cys1310=)
c.*2535G= (n.*2535G=)
c.2186G= (p.Cys729=)
c.3956G= (p.Cys1319=)
n.3971G=
c.1469G= (p.Cys490=)
11g.68433767G>TCA381613918LRP5c.3929G>T (p.Cys1310Phe)
c.*2535G>T (n.*2535G>T)
c.2186G>T (p.Cys729Phe)
c.3956G>T (p.Cys1319Phe)
n.3971G>T
c.1469G>T (p.Cys490Phe)
11g.68433768T>ACA381613920LRP5c.3930T>A (p.Cys1310Ter)
c.*2536T>A (n.*2536T>A)
c.2187T>A (p.Cys729Ter)
c.3957T>A (p.Cys1319Ter)
n.3972T>A
c.1470T>A (p.Cys490Ter)
11g.68433768T>CCA475460808LRP5c.3930T>C (p.Cys1310=)
c.*2536T>C (n.*2536T>C)
c.2187T>C (p.Cys729=)
c.3957T>C (p.Cys1319=)
n.3972T>C
c.1470T>C (p.Cys490=)
 ClinVar dbSNP gnomAD v4
11g.68433768T>GCA381613921LRP5c.3930T>G (p.Cys1310Trp)
c.*2536T>G (n.*2536T>G)
c.2187T>G (p.Cys729Trp)
c.3957T>G (p.Cys1319Trp)
n.3972T>G
c.1470T>G (p.Cys490Trp)
11g.68433768T=CA1980622428LRP5c.3930T= (p.Cys1310=)
c.*2536T= (n.*2536T=)
c.2187T= (p.Cys729=)
c.3957T= (p.Cys1319=)
n.3972T=
c.1470T= (p.Cys490=)
11g.68433769G>ACA381613922LRP5c.3931G>A (p.Val1311Met)
c.*2537G>A (n.*2537G>A)
c.2188G>A (p.Val730Met)
c.3958G>A (p.Val1320Met)
n.3973G>A
c.1471G>A (p.Val491Met)
 gnomAD v4
11g.68433769G>CCA381613923LRP5c.3931G>C (p.Val1311Leu)
c.*2537G>C (n.*2537G>C)
c.2188G>C (p.Val730Leu)
c.3958G>C (p.Val1320Leu)
n.3973G>C
c.1471G>C (p.Val491Leu)
11g.68433769G>TCA381613924LRP5c.3931G>T (p.Val1311Leu)
c.*2537G>T (n.*2537G>T)
c.2188G>T (p.Val730Leu)
c.3958G>T (p.Val1320Leu)
n.3973G>T
c.1471G>T (p.Val491Leu)
11g.68433770T>ACA381613925LRP5c.3932T>A (p.Val1311Glu)
c.*2538T>A (n.*2538T>A)
c.2189T>A (p.Val730Glu)
c.3959T>A (p.Val1320Glu)
n.3974T>A
c.1472T>A (p.Val491Glu)
11g.68433770T>CCA381613926LRP5c.3932T>C (p.Val1311Ala)
c.*2538T>C (n.*2538T>C)
c.2189T>C (p.Val730Ala)
c.3959T>C (p.Val1320Ala)
n.3974T>C
c.1472T>C (p.Val491Ala)
11g.68433770T>GCA381613927LRP5c.3932T>G (p.Val1311Gly)
c.*2538T>G (n.*2538T>G)
c.2189T>G (p.Val730Gly)
c.3959T>G (p.Val1320Gly)
n.3974T>G
c.1472T>G (p.Val491Gly)
11g.68433771G>ACA475460811LRP5c.3933G>A (p.Val1311=)
c.*2539G>A (n.*2539G>A)
c.2190G>A (p.Val730=)
c.3960G>A (p.Val1320=)
n.3975G>A
c.1473G>A (p.Val491=)
 gnomAD v4
11g.68433771G>CCA475460812LRP5c.3933G>C (p.Val1311=)
c.*2539G>C (n.*2539G>C)
c.2190G>C (p.Val730=)
c.3960G>C (p.Val1320=)
n.3975G>C
c.1473G>C (p.Val491=)
11g.68433771G>TCA475460813LRP5c.3933G>T (p.Val1311=)
c.*2539G>T (n.*2539G>T)
c.2190G>T (p.Val730=)
c.3960G>T (p.Val1320=)
n.3975G>T
c.1473G>T (p.Val491=)
11g.68433772G>ACA381613928LRP5c.3934G>A (p.Asp1312Asn)
c.*2540G>A (n.*2540G>A)
c.2191G>A (p.Asp731Asn)
c.3961G>A (p.Asp1321Asn)
n.3976G>A
c.1474G>A (p.Asp492Asn)
 gnomAD v4
11g.68433772G>CCA381613929LRP5c.3934G>C (p.Asp1312His)
c.*2540G>C (n.*2540G>C)
c.2191G>C (p.Asp731His)
c.3961G>C (p.Asp1321His)
n.3976G>C
c.1474G>C (p.Asp492His)
11g.68433772G>TCA381613930LRP5c.3934G>T (p.Asp1312Tyr)
c.*2540G>T (n.*2540G>T)
c.2191G>T (p.Asp731Tyr)
c.3961G>T (p.Asp1321Tyr)
n.3976G>T
c.1474G>T (p.Asp492Tyr)
11g.68433773A=CA1980622429LRP5c.3935A= (p.Asp1312=)
c.*2541A= (n.*2541A=)
c.2192A= (p.Asp731=)
c.3962A= (p.Asp1321=)
n.3977A=
c.1475A= (p.Asp492=)
11g.68433773A>CCA381613931LRP5c.3935A>C (p.Asp1312Ala)
c.*2541A>C (n.*2541A>C)
c.2192A>C (p.Asp731Ala)
c.3962A>C (p.Asp1321Ala)
n.3977A>C
c.1475A>C (p.Asp492Ala)
11g.68433773A>GCA381613932LRP5c.3935A>G (p.Asp1312Gly)
c.*2541A>G (n.*2541A>G)
c.2192A>G (p.Asp731Gly)
c.3962A>G (p.Asp1321Gly)
n.3977A>G
c.1475A>G (p.Asp492Gly)
 dbSNP gnomAD v2 gnomAD v4
11g.68433773A>TCA381613933LRP5c.3935A>T (p.Asp1312Val)
c.*2541A>T (n.*2541A>T)
c.2192A>T (p.Asp731Val)
c.3962A>T (p.Asp1321Val)
n.3977A>T
c.1475A>T (p.Asp492Val)
11g.68433774C>ACA381613934LRP5c.3936C>A (p.Asp1312Glu)
c.*2542C>A (n.*2542C>A)
c.2193C>A (p.Asp731Glu)
c.3963C>A (p.Asp1321Glu)
n.3978C>A
c.1476C>A (p.Asp492Glu)
 gnomAD v4
11g.68433774C>GCA381613935LRP5c.3936C>G (p.Asp1312Glu)
c.*2542C>G (n.*2542C>G)
c.2193C>G (p.Asp731Glu)
c.3963C>G (p.Asp1321Glu)
n.3978C>G
c.1476C>G (p.Asp492Glu)
11g.68433774C>TCA475460814LRP5c.3936C>T (p.Asp1312=)
c.*2542C>T (n.*2542C>T)
c.2193C>T (p.Asp731=)
c.3963C>T (p.Asp1321=)
n.3978C>T
c.1476C>T (p.Asp492=)
11g.68433781_68433786dupCA2574901240LRP5c.3943_3948dup (p.Arg1316_Cys1317insLeuArg)
c.*2549_*2554dup (n.*2549_*2554dup)
c.2200_2205dup (p.Arg735_Cys736insLeuArg)
c.3970_3975dup (p.Arg1325_Cys1326insLeuArg)
n.3985_3990dup
c.1483_1488dup (p.Arg496_Cys497insLeuArg)
11g.68433775C>ACA381613936LRP5c.3937C>A (p.Leu1313Met)
c.*2543C>A (n.*2543C>A)
c.2194C>A (p.Leu732Met)
c.3964C>A (p.Leu1322Met)
n.3979C>A
c.1477C>A (p.Leu493Met)
11g.68433775C=CA1980622430LRP5c.3937C= (p.Leu1313=)
c.*2543C= (n.*2543C=)
c.2194C= (p.Leu732=)
c.3964C= (p.Leu1322=)
n.3979C=
c.1477C= (p.Leu493=)
11g.68433775C>GCA381613937LRP5c.3937C>G (p.Leu1313Val)
c.*2543C>G (n.*2543C>G)
c.2194C>G (p.Leu732Val)
c.3964C>G (p.Leu1322Val)
n.3979C>G
c.1477C>G (p.Leu493Val)
11g.68433775C>TCA6150161LRP5c.3937C>T (p.Leu1313=)
c.*2543C>T (n.*2543C>T)
c.2194C>T (p.Leu732=)
c.3964C>T (p.Leu1322=)
n.3979C>T
c.1477C>T (p.Leu493=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68433776T>ACA381613938LRP5c.3938T>A (p.Leu1313Gln)
c.*2544T>A (n.*2544T>A)
c.2195T>A (p.Leu732Gln)
c.3965T>A (p.Leu1322Gln)
n.3980T>A
c.1478T>A (p.Leu493Gln)
11g.68433776T>CCA381613939LRP5c.3938T>C (p.Leu1313Pro)
c.*2544T>C (n.*2544T>C)
c.2195T>C (p.Leu732Pro)
c.3965T>C (p.Leu1322Pro)
n.3980T>C
c.1478T>C (p.Leu493Pro)
11g.68433776T>GCA381613940LRP5c.3938T>G (p.Leu1313Arg)
c.*2544T>G (n.*2544T>G)
c.2195T>G (p.Leu732Arg)
c.3965T>G (p.Leu1322Arg)
n.3980T>G
c.1478T>G (p.Leu493Arg)
11g.68433777G>ACA475460816LRP5c.3939G>A (p.Leu1313=)
c.*2545G>A (n.*2545G>A)
c.2196G>A (p.Leu732=)
c.3966G>A (p.Leu1322=)
n.3981G>A
c.1479G>A (p.Leu493=)
11g.68433777G>CCA475460817LRP5c.3939G>C (p.Leu1313=)
c.*2545G>C (n.*2545G>C)
c.2196G>C (p.Leu732=)
c.3966G>C (p.Leu1322=)
n.3981G>C
c.1479G>C (p.Leu493=)
11g.68433777G>TCA475460818LRP5c.3939G>T (p.Leu1313=)
c.*2545G>T (n.*2545G>T)
c.2196G>T (p.Leu732=)
c.3966G>T (p.Leu1322=)
n.3981G>T
c.1479G>T (p.Leu493=)
11g.68433778C>ACA381613941LRP5c.3940C>A (p.Arg1314Ser)
c.*2546C>A (n.*2546C>A)
c.2197C>A (p.Arg733Ser)
c.3967C>A (p.Arg1323Ser)
n.3982C>A
c.1480C>A (p.Arg494Ser)
11g.68433778C=CA1980622434LRP5c.3940C= (p.Arg1314=)
c.*2546C= (n.*2546C=)
c.2197C= (p.Arg733=)
c.3967C= (p.Arg1323=)
n.3982C=
c.1480C= (p.Arg494=)
11g.68433778C>GCA381613942LRP5c.3940C>G (p.Arg1314Gly)
c.*2546C>G (n.*2546C>G)
c.2197C>G (p.Arg733Gly)
c.3967C>G (p.Arg1323Gly)
n.3982C>G
c.1480C>G (p.Arg494Gly)
11g.68433778C>TCA6150162LRP5c.3940C>T (p.Arg1314Cys)
c.*2546C>T (n.*2546C>T)
c.2197C>T (p.Arg733Cys)
c.3967C>T (p.Arg1323Cys)
n.3982C>T
c.1480C>T (p.Arg494Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68433779G>ACA6150163LRP5c.3941G>A (p.Arg1314His)
c.*2547G>A (n.*2547G>A)
c.2198G>A (p.Arg733His)
c.3968G>A (p.Arg1323His)
n.3983G>A
c.1481G>A (p.Arg494His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433779G>CCA381613943LRP5c.3941G>C (p.Arg1314Pro)
c.*2547G>C (n.*2547G>C)
c.2198G>C (p.Arg733Pro)
c.3968G>C (p.Arg1323Pro)
n.3983G>C
c.1481G>C (p.Arg494Pro)
 dbSNP gnomAD v4
11g.68433779G=CA1980622439LRP5c.3941G= (p.Arg1314=)
c.*2547G= (n.*2547G=)
c.2198G= (p.Arg733=)
c.3968G= (p.Arg1323=)
n.3983G=
c.1481G= (p.Arg494=)
11g.68433779G>TCA381613944LRP5c.3941G>T (p.Arg1314Leu)
c.*2547G>T (n.*2547G>T)
c.2198G>T (p.Arg733Leu)
c.3968G>T (p.Arg1323Leu)
n.3983G>T
c.1481G>T (p.Arg494Leu)
11g.68433780C>ACA475460823LRP5c.3942C>A (p.Arg1314=)
c.*2548C>A (n.*2548C>A)
c.2199C>A (p.Arg733=)
c.3969C>A (p.Arg1323=)
n.3984C>A
c.1482C>A (p.Arg494=)
11g.68433780C>GCA475460821LRP5c.3942C>G (p.Arg1314=)
c.*2548C>G (n.*2548C>G)
c.2199C>G (p.Arg733=)
c.3969C>G (p.Arg1323=)
n.3984C>G
c.1482C>G (p.Arg494=)
11g.68433780C>TCA475460822LRP5c.3942C>T (p.Arg1314=)
c.*2548C>T (n.*2548C>T)
c.2199C>T (p.Arg733=)
c.3969C>T (p.Arg1323=)
n.3984C>T
c.1482C>T (p.Arg494=)
11g.68433781C>ACA381613945LRP5c.3943C>A (p.Leu1315Met)
c.*2549C>A (n.*2549C>A)
c.2200C>A (p.Leu734Met)
c.3970C>A (p.Leu1324Met)
n.3985C>A
c.1483C>A (p.Leu495Met)
11g.68433781C=CA1980622441LRP5c.3943C= (p.Leu1315=)
c.*2549C= (n.*2549C=)
c.2200C= (p.Leu734=)
c.3970C= (p.Leu1324=)
n.3985C=
c.1483C= (p.Leu495=)
11g.68433781C>GCA381613946LRP5c.3943C>G (p.Leu1315Val)
c.*2549C>G (n.*2549C>G)
c.2200C>G (p.Leu734Val)
c.3970C>G (p.Leu1324Val)
n.3985C>G
c.1483C>G (p.Leu495Val)
11g.68433781C>TCA6150164LRP5c.3943C>T (p.Leu1315=)
c.*2549C>T (n.*2549C>T)
c.2200C>T (p.Leu734=)
c.3970C>T (p.Leu1324=)
n.3985C>T
c.1483C>T (p.Leu495=)
 dbSNP ExAC gnomAD v2
11g.68433782T>ACA381613947LRP5c.3944T>A (p.Leu1315Gln)
c.*2550T>A (n.*2550T>A)
c.2201T>A (p.Leu734Gln)
c.3971T>A (p.Leu1324Gln)
n.3986T>A
c.1484T>A (p.Leu495Gln)
11g.68433782T>CCA381613948LRP5c.3944T>C (p.Leu1315Pro)
c.*2550T>C (n.*2550T>C)
c.2201T>C (p.Leu734Pro)
c.3971T>C (p.Leu1324Pro)
n.3986T>C
c.1484T>C (p.Leu495Pro)
11g.68433782T>GCA381613949LRP5c.3944T>G (p.Leu1315Arg)
c.*2550T>G (n.*2550T>G)
c.2201T>G (p.Leu734Arg)
c.3971T>G (p.Leu1324Arg)
n.3986T>G
c.1484T>G (p.Leu495Arg)
 gnomAD v4
11g.68433783G>ACA475460825LRP5c.3945G>A (p.Leu1315=)
c.*2551G>A (n.*2551G>A)
c.2202G>A (p.Leu734=)
c.3972G>A (p.Leu1324=)
n.3987G>A
c.1485G>A (p.Leu495=)
11g.68433783G>CCA475460826LRP5c.3945G>C (p.Leu1315=)
c.*2551G>C (n.*2551G>C)
c.2202G>C (p.Leu734=)
c.3972G>C (p.Leu1324=)
n.3987G>C
c.1485G>C (p.Leu495=)
11g.68433783G>TCA475460827LRP5c.3945G>T (p.Leu1315=)
c.*2551G>T (n.*2551G>T)
c.2202G>T (p.Leu734=)
c.3972G>T (p.Leu1324=)
n.3987G>T
c.1485G>T (p.Leu495=)
11g.68433784C>ACA381613950LRP5c.3946C>A (p.Arg1316Ser)
c.*2552C>A (n.*2552C>A)
c.2203C>A (p.Arg735Ser)
c.3973C>A (p.Arg1325Ser)
n.3988C>A
c.1486C>A (p.Arg496Ser)
11g.68433784C=CA1980622443LRP5c.3946C= (p.Arg1316=)
c.*2552C= (n.*2552C=)
c.2203C= (p.Arg735=)
c.3973C= (p.Arg1325=)
n.3988C=
c.1486C= (p.Arg496=)
11g.68433784C>GCA381613951LRP5c.3946C>G (p.Arg1316Gly)
c.*2552C>G (n.*2552C>G)
c.2203C>G (p.Arg735Gly)
c.3973C>G (p.Arg1325Gly)
n.3988C>G
c.1486C>G (p.Arg496Gly)
 dbSNP
11g.68433784C>TCA224251075LRP5c.3946C>T (p.Arg1316Cys)
c.*2552C>T (n.*2552C>T)
c.2203C>T (p.Arg735Cys)
c.3973C>T (p.Arg1325Cys)
n.3988C>T
c.1486C>T (p.Arg496Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68433785G>ACA6150165LRP5c.3947G>A (p.Arg1316His)
c.*2553G>A (n.*2553G>A)
c.2204G>A (p.Arg735His)
c.3974G>A (p.Arg1325His)
n.3989G>A
c.1487G>A (p.Arg496His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68433785G>CCA381613953LRP5c.3947G>C (p.Arg1316Pro)
c.*2553G>C (n.*2553G>C)
c.2204G>C (p.Arg735Pro)
c.3974G>C (p.Arg1325Pro)
n.3989G>C
c.1487G>C (p.Arg496Pro)
 gnomAD v4
11g.68433785G=CA1980622449LRP5c.3947G= (p.Arg1316=)
c.*2553G= (n.*2553G=)
c.2204G= (p.Arg735=)
c.3974G= (p.Arg1325=)
n.3989G=
c.1487G= (p.Arg496=)
11g.68433785G>TCA381613952LRP5c.3947G>T (p.Arg1316Leu)
c.*2553G>T (n.*2553G>T)
c.2204G>T (p.Arg735Leu)
c.3974G>T (p.Arg1325Leu)
n.3989G>T
c.1487G>T (p.Arg496Leu)
11g.68433786C>ACA475460832LRP5c.3948C>A (p.Arg1316=)
c.*2554C>A (n.*2554C>A)
c.2205C>A (p.Arg735=)
c.3975C>A (p.Arg1325=)
n.3990C>A
c.1488C>A (p.Arg496=)
11g.68433786C>GCA475460831LRP5c.3948C>G (p.Arg1316=)
c.*2554C>G (n.*2554C>G)
c.2205C>G (p.Arg735=)
c.3975C>G (p.Arg1325=)
n.3990C>G
c.1488C>G (p.Arg496=)
11g.68433786C>TCA475460833LRP5c.3948C>T (p.Arg1316=)
c.*2554C>T (n.*2554C>T)
c.2205C>T (p.Arg735=)
c.3975C>T (p.Arg1325=)
n.3990C>T
c.1488C>T (p.Arg496=)
 ClinVar dbSNP gnomAD v4
11g.68433787T>ACA381613954LRP5c.3949T>A (p.Cys1317Ser)
c.*2555T>A (n.*2555T>A)
c.2206T>A (p.Cys736Ser)
c.3976T>A (p.Cys1326Ser)
n.3991T>A
c.1489T>A (p.Cys497Ser)
11g.68433787T>CCA381613955LRP5c.3949T>C (p.Cys1317Arg)
c.*2555T>C (n.*2555T>C)
c.2206T>C (p.Cys736Arg)
c.3976T>C (p.Cys1326Arg)
n.3991T>C
c.1489T>C (p.Cys497Arg)
11g.68433787T>GCA381613956LRP5c.3949T>G (p.Cys1317Gly)
c.*2555T>G (n.*2555T>G)
c.2206T>G (p.Cys736Gly)
c.3976T>G (p.Cys1326Gly)
n.3991T>G
c.1489T>G (p.Cys497Gly)
11g.68433788G>ACA381613957LRP5c.3950G>A (p.Cys1317Tyr)
c.*2556G>A (n.*2556G>A)
c.2207G>A (p.Cys736Tyr)
c.3977G>A (p.Cys1326Tyr)
n.3992G>A
c.1490G>A (p.Cys497Tyr)
 gnomAD v4
11g.68433788G>CCA381613958LRP5c.3950G>C (p.Cys1317Ser)
c.*2556G>C (n.*2556G>C)
c.2207G>C (p.Cys736Ser)
c.3977G>C (p.Cys1326Ser)
n.3992G>C
c.1490G>C (p.Cys497Ser)
11g.68433788G>TCA381613959LRP5c.3950G>T (p.Cys1317Phe)
c.*2556G>T (n.*2556G>T)
c.2207G>T (p.Cys736Phe)
c.3977G>T (p.Cys1326Phe)
n.3992G>T
c.1490G>T (p.Cys497Phe)
11g.68433789C>ACA381613960LRP5c.3951C>A (p.Cys1317Ter)
c.*2557C>A (n.*2557C>A)
c.2208C>A (p.Cys736Ter)
c.3978C>A (p.Cys1326Ter)
n.3993C>A
c.1491C>A (p.Cys497Ter)
11g.68433789C=CA1980622455LRP5c.3951C= (p.Cys1317=)
c.*2557C= (n.*2557C=)
c.2208C= (p.Cys736=)
c.3978C= (p.Cys1326=)
n.3993C=
c.1491C= (p.Cys497=)
11g.68433789C>GCA381613961LRP5c.3951C>G (p.Cys1317Trp)
c.*2557C>G (n.*2557C>G)
c.2208C>G (p.Cys736Trp)
c.3978C>G (p.Cys1326Trp)
n.3993C>G
c.1491C>G (p.Cys497Trp)
11g.68433789C>TCA6150166LRP5c.3951C>T (p.Cys1317=)
c.*2557C>T (n.*2557C>T)
c.2208C>T (p.Cys736=)
c.3978C>T (p.Cys1326=)
n.3993C>T
c.1491C>T (p.Cys497=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433790G>ACA224251082LRP5c.3952G>A (p.Asp1318Asn)
c.*2558G>A (n.*2558G>A)
c.2209G>A (p.Asp737Asn)
c.3979G>A (p.Asp1327Asn)
n.3994G>A
c.1492G>A (p.Asp498Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68433790G>CCA381613962LRP5c.3952G>C (p.Asp1318His)
c.*2558G>C (n.*2558G>C)
c.2209G>C (p.Asp737His)
c.3979G>C (p.Asp1327His)
n.3994G>C
c.1492G>C (p.Asp498His)
 ClinVar
11g.68433790G=CA1980622460LRP5c.3952G= (p.Asp1318=)
c.*2558G= (n.*2558G=)
c.2209G= (p.Asp737=)
c.3979G= (p.Asp1327=)
n.3994G=
c.1492G= (p.Asp498=)
11g.68433790G>TCA381613963LRP5c.3952G>T (p.Asp1318Tyr)
c.*2558G>T (n.*2558G>T)
c.2209G>T (p.Asp737Tyr)
c.3979G>T (p.Asp1327Tyr)
n.3994G>T
c.1492G>T (p.Asp498Tyr)
11g.68433791A>CCA381613964LRP5c.3953A>C (p.Asp1318Ala)
c.*2559A>C (n.*2559A>C)
c.2210A>C (p.Asp737Ala)
c.3980A>C (p.Asp1327Ala)
n.3995A>C
c.1493A>C (p.Asp498Ala)
11g.68433791A>GCA381613965LRP5c.3953A>G (p.Asp1318Gly)
c.*2559A>G (n.*2559A>G)
c.2210A>G (p.Asp737Gly)
c.3980A>G (p.Asp1327Gly)
n.3995A>G
c.1493A>G (p.Asp498Gly)
11g.68433791A>TCA381613966LRP5c.3953A>T (p.Asp1318Val)
c.*2559A>T (n.*2559A>T)
c.2210A>T (p.Asp737Val)
c.3980A>T (p.Asp1327Val)
n.3995A>T
c.1493A>T (p.Asp498Val)
11g.68433792C>ACA381613967LRP5c.3954C>A (p.Asp1318Glu)
c.*2560C>A (n.*2560C>A)
c.2211C>A (p.Asp737Glu)
c.3981C>A (p.Asp1327Glu)
n.3996C>A
c.1494C>A (p.Asp498Glu)
11g.68433792C=CA1980622465LRP5c.3954C= (p.Asp1318=)
c.*2560C= (n.*2560C=)
c.2211C= (p.Asp737=)
c.3981C= (p.Asp1327=)
n.3996C=
c.1494C= (p.Asp498=)
11g.68433792C>GCA381613968LRP5c.3954C>G (p.Asp1318Glu)
c.*2560C>G (n.*2560C>G)
c.2211C>G (p.Asp737Glu)
c.3981C>G (p.Asp1327Glu)
n.3996C>G
c.1494C>G (p.Asp498Glu)
11g.68433792C>TCA6150167LRP5c.3954C>T (p.Asp1318=)
c.*2560C>T (n.*2560C>T)
c.2211C>T (p.Asp737=)
c.3981C>T (p.Asp1327=)
n.3996C>T
c.1494C>T (p.Asp498=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433793G>ACA224251093LRP5c.3955G>A (p.Gly1319Ser)
c.*2561G>A (n.*2561G>A)
c.2212G>A (p.Gly738Ser)
c.3982G>A (p.Gly1328Ser)
n.3997G>A
c.1495G>A (p.Gly499Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.68433793G>CCA381613969LRP5c.3955G>C (p.Gly1319Arg)
c.*2561G>C (n.*2561G>C)
c.2212G>C (p.Gly738Arg)
c.3982G>C (p.Gly1328Arg)
n.3997G>C
c.1495G>C (p.Gly499Arg)
11g.68433793G=CA1980622467LRP5c.3955G= (p.Gly1319=)
c.*2561G= (n.*2561G=)
c.2212G= (p.Gly738=)
c.3982G= (p.Gly1328=)
n.3997G=
c.1495G= (p.Gly499=)
11g.68433793G>TCA381613970LRP5c.3955G>T (p.Gly1319Cys)
c.*2561G>T (n.*2561G>T)
c.2212G>T (p.Gly738Cys)
c.3982G>T (p.Gly1328Cys)
n.3997G>T
c.1495G>T (p.Gly499Cys)
11g.68433794G>ACA381613971LRP5c.3956G>A (p.Gly1319Asp)
c.*2562G>A (n.*2562G>A)
c.2213G>A (p.Gly738Asp)
c.3983G>A (p.Gly1328Asp)
n.3998G>A
c.1496G>A (p.Gly499Asp)
 dbSNP gnomAD v2
11g.68433794G>CCA381613973LRP5c.3956G>C (p.Gly1319Ala)
c.*2562G>C (n.*2562G>C)
c.2213G>C (p.Gly738Ala)
c.3983G>C (p.Gly1328Ala)
n.3998G>C
c.1496G>C (p.Gly499Ala)
 gnomAD v4
11g.68433794G=CA1980622476LRP5c.3956G= (p.Gly1319=)
c.*2562G= (n.*2562G=)
c.2213G= (p.Gly738=)
c.3983G= (p.Gly1328=)
n.3998G=
c.1496G= (p.Gly499=)
11g.68433794G>TCA381613972LRP5c.3956G>T (p.Gly1319Val)
c.*2562G>T (n.*2562G>T)
c.2213G>T (p.Gly738Val)
c.3983G>T (p.Gly1328Val)
n.3998G>T
c.1496G>T (p.Gly499Val)
11g.68433795C>ACA475460839LRP5c.3957C>A (p.Gly1319=)
c.*2563C>A (n.*2563C>A)
c.2214C>A (p.Gly738=)
c.3984C>A (p.Gly1328=)
n.3999C>A
c.1497C>A (p.Gly499=)
 ClinVar dbSNP gnomAD v4
11g.68433795C=CA1980622483LRP5c.3957C= (p.Gly1319=)
c.*2563C= (n.*2563C=)
c.2214C= (p.Gly738=)
c.3984C= (p.Gly1328=)
n.3999C=
c.1497C= (p.Gly499=)
11g.68433795C>GCA475460840LRP5c.3957C>G (p.Gly1319=)
c.*2563C>G (n.*2563C>G)
c.2214C>G (p.Gly738=)
c.3984C>G (p.Gly1328=)
n.3999C>G
c.1497C>G (p.Gly499=)
11g.68433795C>TCA6150168LRP5c.3957C>T (p.Gly1319=)
c.*2563C>T (n.*2563C>T)
c.2214C>T (p.Gly738=)
c.3984C>T (p.Gly1328=)
n.3999C>T
c.1497C>T (p.Gly499=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433796G>ACA6150169LRP5c.3958G>A (p.Glu1320Lys)
c.*2564G>A (n.*2564G>A)
c.2215G>A (p.Glu739Lys)
c.3985G>A (p.Glu1329Lys)
n.4000G>A
c.1498G>A (p.Glu500Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68433796G>CCA381613974LRP5c.3958G>C (p.Glu1320Gln)
c.*2564G>C (n.*2564G>C)
c.2215G>C (p.Glu739Gln)
c.3985G>C (p.Glu1329Gln)
n.4000G>C
c.1498G>C (p.Glu500Gln)
11g.68433796G=CA1980622489LRP5c.3958G= (p.Glu1320=)
c.*2564G= (n.*2564G=)
c.2215G= (p.Glu739=)
c.3985G= (p.Glu1329=)
n.4000G=
c.1498G= (p.Glu500=)
11g.68433796G>TCA381613975LRP5c.3958G>T (p.Glu1320Ter)
c.*2564G>T (n.*2564G>T)
c.2215G>T (p.Glu739Ter)
c.3985G>T (p.Glu1329Ter)
n.4000G>T
c.1498G>T (p.Glu500Ter)
11g.68433797A>CCA381613976LRP5c.3959A>C (p.Glu1320Ala)
c.*2565A>C (n.*2565A>C)
c.2216A>C (p.Glu739Ala)
c.3986A>C (p.Glu1329Ala)
n.4001A>C
c.1499A>C (p.Glu500Ala)
 gnomAD v4
11g.68433797A>GCA381613977LRP5c.3959A>G (p.Glu1320Gly)
c.*2565A>G (n.*2565A>G)
c.2216A>G (p.Glu739Gly)
c.3986A>G (p.Glu1329Gly)
n.4001A>G
c.1499A>G (p.Glu500Gly)
11g.68433797A>TCA381613978LRP5c.3959A>T (p.Glu1320Val)
c.*2565A>T (n.*2565A>T)
c.2216A>T (p.Glu739Val)
c.3986A>T (p.Glu1329Val)
n.4001A>T
c.1499A>T (p.Glu500Val)
11g.68433798G>ACA475460842LRP5c.3960G>A (p.Glu1320=)
c.*2566G>A (n.*2566G>A)
c.2217G>A (p.Glu739=)
c.3987G>A (p.Glu1329=)
n.4002G>A
c.1500G>A (p.Glu500=)
 ClinVar
11g.68433798G>CCA381613979LRP5c.3960G>C (p.Glu1320Asp)
c.*2566G>C (n.*2566G>C)
c.2217G>C (p.Glu739Asp)
c.3987G>C (p.Glu1329Asp)
n.4002G>C
c.1500G>C (p.Glu500Asp)
11g.68433798G>TCA381613980LRP5c.3960G>T (p.Glu1320Asp)
c.*2566G>T (n.*2566G>T)
c.2217G>T (p.Glu739Asp)
c.3987G>T (p.Glu1329Asp)
n.4002G>T
c.1500G>T (p.Glu500Asp)
11g.68433799G>ACA381613981LRP5c.3961G>A (p.Ala1321Thr)
c.*2567G>A (n.*2567G>A)
c.2218G>A (p.Ala740Thr)
c.3988G>A (p.Ala1330Thr)
n.4003G>A
c.1501G>A (p.Ala501Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.68433799G>CCA381613982LRP5c.3961G>C (p.Ala1321Pro)
c.*2567G>C (n.*2567G>C)
c.2218G>C (p.Ala740Pro)
c.3988G>C (p.Ala1330Pro)
n.4003G>C
c.1501G>C (p.Ala501Pro)
11g.68433799G=CA1980622498LRP5c.3961G= (p.Ala1321=)
c.*2567G= (n.*2567G=)
c.2218G= (p.Ala740=)
c.3988G= (p.Ala1330=)
n.4003G=
c.1501G= (p.Ala501=)
11g.68433799G>TCA381613983LRP5c.3961G>T (p.Ala1321Ser)
c.*2567G>T (n.*2567G>T)
c.2218G>T (p.Ala740Ser)
c.3988G>T (p.Ala1330Ser)
n.4003G>T
c.1501G>T (p.Ala501Ser)
11g.68433800C>ACA381613986LRP5c.3962C>A (p.Ala1321Glu)
c.*2568C>A (n.*2568C>A)
c.2219C>A (p.Ala740Glu)
c.3989C>A (p.Ala1330Glu)
n.4004C>A
c.1502C>A (p.Ala501Glu)
11g.68433800C>GCA381613985LRP5c.3962C>G (p.Ala1321Gly)
c.*2568C>G (n.*2568C>G)
c.2219C>G (p.Ala740Gly)
c.3989C>G (p.Ala1330Gly)
n.4004C>G
c.1502C>G (p.Ala501Gly)
11g.68433800C>TCA381613984LRP5c.3962C>T (p.Ala1321Val)
c.*2568C>T (n.*2568C>T)
c.2219C>T (p.Ala740Val)
c.3989C>T (p.Ala1330Val)
n.4004C>T
c.1502C>T (p.Ala501Val)
11g.68433801A=CA1980622501LRP5c.3963A= (p.Ala1321=)
c.*2569A= (n.*2569A=)
c.2220A= (p.Ala740=)
c.3990A= (p.Ala1330=)
n.4005A=
c.1503A= (p.Ala501=)
11g.68433801A>CCA6150170LRP5c.3963A>C (p.Ala1321=)
c.*2569A>C (n.*2569A>C)
c.2220A>C (p.Ala740=)
c.3990A>C (p.Ala1330=)
n.4005A>C
c.1503A>C (p.Ala501=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68433801A>GCA475460844LRP5c.3963A>G (p.Ala1321=)
c.*2569A>G (n.*2569A>G)
c.2220A>G (p.Ala740=)
c.3990A>G (p.Ala1330=)
n.4005A>G
c.1503A>G (p.Ala501=)
11g.68433801A>TCA475460846LRP5c.3963A>T (p.Ala1321=)
c.*2569A>T (n.*2569A>T)
c.2220A>T (p.Ala740=)
c.3990A>T (p.Ala1330=)
n.4005A>T
c.1503A>T (p.Ala501=)
 dbSNP
11g.68433802G>ACA381613987LRP5c.3964G>A (p.Asp1322Asn)
c.*2570G>A (n.*2570G>A)
c.2221G>A (p.Asp741Asn)
c.3991G>A (p.Asp1331Asn)
n.4006G>A
c.1504G>A (p.Asp502Asn)
 ClinVar gnomAD v4
11g.68433802G>CCA381613988LRP5c.3964G>C (p.Asp1322His)
c.*2570G>C (n.*2570G>C)
c.2221G>C (p.Asp741His)
c.3991G>C (p.Asp1331His)
n.4006G>C
c.1504G>C (p.Asp502His)
11g.68433802G>TCA381613989LRP5c.3964G>T (p.Asp1322Tyr)
c.*2570G>T (n.*2570G>T)
c.2221G>T (p.Asp741Tyr)
c.3991G>T (p.Asp1331Tyr)
n.4006G>T
c.1504G>T (p.Asp502Tyr)
11g.68433803A=CA1980622503LRP5c.3965A= (p.Asp1322=)
c.*2571A= (n.*2571A=)
c.2222A= (p.Asp741=)
c.3992A= (p.Asp1331=)
n.4007A=
c.1505A= (p.Asp502=)
11g.68433803A>CCA381613990LRP5c.3965A>C (p.Asp1322Ala)
c.*2571A>C (n.*2571A>C)
c.2222A>C (p.Asp741Ala)
c.3992A>C (p.Asp1331Ala)
n.4007A>C
c.1505A>C (p.Asp502Ala)
11g.68433803A>GCA381613991LRP5c.3965A>G (p.Asp1322Gly)
c.*2571A>G (n.*2571A>G)
c.2222A>G (p.Asp741Gly)
c.3992A>G (p.Asp1331Gly)
n.4007A>G
c.1505A>G (p.Asp502Gly)
 dbSNP gnomAD v4
11g.68433803A>TCA381613992LRP5c.3965A>T (p.Asp1322Val)
c.*2571A>T (n.*2571A>T)
c.2222A>T (p.Asp741Val)
c.3992A>T (p.Asp1331Val)
n.4007A>T
c.1505A>T (p.Asp502Val)
11g.68433804C>ACA381613993LRP5c.3966C>A (p.Asp1322Glu)
c.*2572C>A (n.*2572C>A)
c.2223C>A (p.Asp741Glu)
c.3993C>A (p.Asp1331Glu)
n.4008C>A
c.1506C>A (p.Asp502Glu)
11g.68433804C>GCA381613994LRP5c.3966C>G (p.Asp1322Glu)
c.*2572C>G (n.*2572C>G)
c.2223C>G (p.Asp741Glu)
c.3993C>G (p.Asp1331Glu)
n.4008C>G
c.1506C>G (p.Asp502Glu)
11g.68433804C>TCA475460851LRP5c.3966C>T (p.Asp1322=)
c.*2572C>T (n.*2572C>T)
c.2223C>T (p.Asp741=)
c.3993C>T (p.Asp1331=)
n.4008C>T
c.1506C>T (p.Asp502=)
11g.68433805T>ACA381613995LRP5c.3967T>A (p.Cys1323Ser)
c.*2573T>A (n.*2573T>A)
c.2224T>A (p.Cys742Ser)
c.3994T>A (p.Cys1332Ser)
n.4009T>A
c.1507T>A (p.Cys503Ser)
11g.68433805T>CCA381613996LRP5c.3967T>C (p.Cys1323Arg)
c.*2573T>C (n.*2573T>C)
c.2224T>C (p.Cys742Arg)
c.3994T>C (p.Cys1332Arg)
n.4009T>C
c.1507T>C (p.Cys503Arg)
11g.68433805T>GCA381613997LRP5c.3967T>G (p.Cys1323Gly)
c.*2573T>G (n.*2573T>G)
c.2224T>G (p.Cys742Gly)
c.3994T>G (p.Cys1332Gly)
n.4009T>G
c.1507T>G (p.Cys503Gly)
11g.68433805T=CA1980622505LRP5c.3967T= (p.Cys1323=)
c.*2573T= (n.*2573T=)
c.2224T= (p.Cys742=)
c.3994T= (p.Cys1332=)
n.4009T=
c.1507T= (p.Cys503=)
11g.68433806G>ACA381613998LRP5c.3968G>A (p.Cys1323Tyr)
c.*2574G>A (n.*2574G>A)
c.2225G>A (p.Cys742Tyr)
c.3995G>A (p.Cys1332Tyr)
n.4010G>A
c.1508G>A (p.Cys503Tyr)
 dbSNP
11g.68433806G>CCA6150171LRP5c.3968G>C (p.Cys1323Ser)
c.*2574G>C (n.*2574G>C)
c.2225G>C (p.Cys742Ser)
c.3995G>C (p.Cys1332Ser)
n.4010G>C
c.1508G>C (p.Cys503Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68433806G=CA1980622510LRP5c.3968G= (p.Cys1323=)
c.*2574G= (n.*2574G=)
c.2225G= (p.Cys742=)
c.3995G= (p.Cys1332=)
n.4010G=
c.1508G= (p.Cys503=)
11g.68433806G>TCA381613999LRP5c.3968G>T (p.Cys1323Phe)
c.*2574G>T (n.*2574G>T)
c.2225G>T (p.Cys742Phe)
c.3995G>T (p.Cys1332Phe)
n.4010G>T
c.1508G>T (p.Cys503Phe)
11g.68433806_68433807insGGGCA600239232LRP5c.3968_3969insGGG (p.Cys1323delinsTrpGly)
c.*2574_*2575insGGG (n.*2574_*2575insGGG)
c.2225_2226insGGG (p.Cys742delinsTrpGly)
c.3995_3996insGGG (p.Cys1332delinsTrpGly)
n.4010_4011insGGG
c.1508_1509insGGG (p.Cys503delinsTrpGly)
 dbSNP gnomAD v2
11g.68433806_68433816delinsGTCAGGACCGCCA1980622512LRP5c.3968_3978delinsGTCAGGACCGC (p.Cys1323=)
c.*2574_*2584delinsGTCAGGACCGC (n.*2574_*2584delinsGTCAGGACCGC)
c.2225_2235delinsGTCAGGACCGC (p.Cys742=)
c.3995_4005delinsGTCAGGACCGC (p.Cys1332=)
n.4010_4020delinsGTCAGGACCGC
c.1508_1518delinsGTCAGGACCGC (p.Cys503=)
11g.68433807T>ACA381614000LRP5c.3969T>A (p.Cys1323Ter)
c.*2575T>A (n.*2575T>A)
c.2226T>A (p.Cys742Ter)
c.3996T>A (p.Cys1332Ter)
n.4011T>A
c.1509T>A (p.Cys503Ter)
11g.68433807T>CCA475460854LRP5c.3969T>C (p.Cys1323=)
c.*2575T>C (n.*2575T>C)
c.2226T>C (p.Cys742=)
c.3996T>C (p.Cys1332=)
n.4011T>C
c.1509T>C (p.Cys503=)
11g.68433807T>GCA381614001LRP5c.3969T>G (p.Cys1323Trp)
c.*2575T>G (n.*2575T>G)
c.2226T>G (p.Cys742Trp)
c.3996T>G (p.Cys1332Trp)
n.4011T>G
c.1509T>G (p.Cys503Trp)
11g.68433807T=CA1980622515LRP5c.3969T= (p.Cys1323=)
c.*2575T= (n.*2575T=)
c.2226T= (p.Cys742=)
c.3996T= (p.Cys1332=)
n.4011T=
c.1509T= (p.Cys503=)
11g.68433811_68433820delCA679587182LRP5c.3973_3982del (p.Asp1325ThrfsTer?)
c.*2579_*2588del (n.*2579_*2588del)
c.2230_2239del (p.Asp744ThrfsTer?)
c.4000_4009del (p.Asp1334ThrfsTer?)
n.4015_4024del
c.1513_1522del (p.Asp505ThrfsTer?)
 dbSNP gnomAD v3 gnomAD v4
11g.68433807_68433808insTTTGCTGGGCGGGGCTGCGTGTGATGTTCTCCTCTGTCCCTCCCCCA600239233LRP5c.3969_3970insTTTGCTGGGCGGGGCTGCGTGTGATGTTCTCCTCTGTCCCTCCCC
c.*2575_*2576insTTTGCTGGGCGGGGCTGCGTGTGATGTTCTCCTCTGTCCCTCCCC (n.*2575_*2576insTTTGCTGGGCGGGGCTGCGTGTGATGTTCTCCTCTGTCCCTCCCC)
c.2226_2227insTTTGCTGGGCGGGGCTGCGTGTGATGTTCTCCTCTGTCCCTCCCC
c.3996_3997insTTTGCTGGGCGGGGCTGCGTGTGATGTTCTCCTCTGTCCCTCCCC
n.4011_4012insTTTGCTGGGCGGGGCTGCGTGTGATGTTCTCCTCTGTCCCTCCCC
c.1509_1510insTTTGCTGGGCGGGGCTGCGTGTGATGTTCTCCTCTGTCCCTCCCC
 dbSNP gnomAD v2
11g.68433808C>ACA381614002LRP5c.3970C>A (p.Gln1324Lys)
c.*2576C>A (n.*2576C>A)
c.2227C>A (p.Gln743Lys)
c.3997C>A (p.Gln1333Lys)
n.4012C>A
c.1510C>A (p.Gln504Lys)
11g.68433808C>GCA381614004LRP5c.3970C>G (p.Gln1324Glu)
c.*2576C>G (n.*2576C>G)
c.2227C>G (p.Gln743Glu)
c.3997C>G (p.Gln1333Glu)
n.4012C>G
c.1510C>G (p.Gln504Glu)
11g.68433808C>TCA381614003LRP5c.3970C>T (p.Gln1324Ter)
c.*2576C>T (n.*2576C>T)
c.2227C>T (p.Gln743Ter)
c.3997C>T (p.Gln1333Ter)
n.4012C>T
c.1510C>T (p.Gln504Ter)
11g.68433809A=CA1980622522LRP5c.3971A= (p.Gln1324=)
c.*2577A= (n.*2577A=)
c.2228A= (p.Gln743=)
c.3998A= (p.Gln1333=)
n.4013A=
c.1511A= (p.Gln504=)
11g.68433809A>CCA381614005LRP5c.3971A>C (p.Gln1324Pro)
c.*2577A>C (n.*2577A>C)
c.2228A>C (p.Gln743Pro)
c.3998A>C (p.Gln1333Pro)
n.4013A>C
c.1511A>C (p.Gln504Pro)
11g.68433809A>GCA6150172LRP5c.3971A>G (p.Gln1324Arg)
c.*2577A>G (n.*2577A>G)
c.2228A>G (p.Gln743Arg)
c.3998A>G (p.Gln1333Arg)
n.4013A>G
c.1511A>G (p.Gln504Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68433809A>TCA381614006LRP5c.3971A>T (p.Gln1324Leu)
c.*2577A>T (n.*2577A>T)
c.2228A>T (p.Gln743Leu)
c.3998A>T (p.Gln1333Leu)
n.4013A>T
c.1511A>T (p.Gln504Leu)
11g.68433810G>ACA475460856LRP5c.3972G>A (p.Gln1324=)
c.*2578G>A (n.*2578G>A)
c.2229G>A (p.Gln743=)
c.3999G>A (p.Gln1333=)
n.4014G>A
c.1512G>A (p.Gln504=)
11g.68433810G>CCA381614007LRP5c.3972G>C (p.Gln1324His)
c.*2578G>C (n.*2578G>C)
c.2229G>C (p.Gln743His)
c.3999G>C (p.Gln1333His)
n.4014G>C
c.1512G>C (p.Gln504His)
11g.68433810G>TCA381614008LRP5c.3972G>T (p.Gln1324His)
c.*2578G>T (n.*2578G>T)
c.2229G>T (p.Gln743His)
c.3999G>T (p.Gln1333His)
n.4014G>T
c.1512G>T (p.Gln504His)
11g.68433811G>ACA381614009LRP5c.3973G>A (p.Asp1325Asn)
c.*2579G>A (n.*2579G>A)
c.2230G>A (p.Asp744Asn)
c.4000G>A (p.Asp1334Asn)
n.4015G>A
c.1513G>A (p.Asp505Asn)
 COSMIC
11g.68433811G>CCA381614010LRP5c.3973G>C (p.Asp1325His)
c.*2579G>C (n.*2579G>C)
c.2230G>C (p.Asp744His)
c.4000G>C (p.Asp1334His)
n.4015G>C
c.1513G>C (p.Asp505His)
11g.68433811G>TCA381614011LRP5c.3973G>T (p.Asp1325Tyr)
c.*2579G>T (n.*2579G>T)
c.2230G>T (p.Asp744Tyr)
c.4000G>T (p.Asp1334Tyr)
n.4015G>T
c.1513G>T (p.Asp505Tyr)
11g.68433812A>CCA381614012LRP5c.3974A>C (p.Asp1325Ala)
c.*2580A>C (n.*2580A>C)
c.2231A>C (p.Asp744Ala)
c.4001A>C (p.Asp1334Ala)
n.4016A>C
c.1514A>C (p.Asp505Ala)
11g.68433812A>GCA381614013LRP5c.3974A>G (p.Asp1325Gly)
c.*2580A>G (n.*2580A>G)
c.2231A>G (p.Asp744Gly)
c.4001A>G (p.Asp1334Gly)
n.4016A>G
c.1514A>G (p.Asp505Gly)
11g.68433812A>TCA381614014LRP5c.3974A>T (p.Asp1325Val)
c.*2580A>T (n.*2580A>T)
c.2231A>T (p.Asp744Val)
c.4001A>T (p.Asp1334Val)
n.4016A>T
c.1514A>T (p.Asp505Val)
11g.68433813C>ACA381614015LRP5c.3975C>A (p.Asp1325Glu)
c.*2581C>A (n.*2581C>A)
c.2232C>A (p.Asp744Glu)
c.4002C>A (p.Asp1334Glu)
n.4017C>A
c.1515C>A (p.Asp505Glu)
11g.68433813C=CA1980622531LRP5c.3975C= (p.Asp1325=)
c.*2581C= (n.*2581C=)
c.2232C= (p.Asp744=)
c.4002C= (p.Asp1334=)
n.4017C=
c.1515C= (p.Asp505=)
11g.68433813C>GCA381614016LRP5c.3975C>G (p.Asp1325Glu)
c.*2581C>G (n.*2581C>G)
c.2232C>G (p.Asp744Glu)
c.4002C>G (p.Asp1334Glu)
n.4017C>G
c.1515C>G (p.Asp505Glu)
11g.68433813C>TCA475460860LRP5c.3975C>T (p.Asp1325=)
c.*2581C>T (n.*2581C>T)
c.2232C>T (p.Asp744=)
c.4002C>T (p.Asp1334=)
n.4017C>T
c.1515C>T (p.Asp505=)
 dbSNP
11g.68433814C>ACA381614017LRP5c.3976C>A (p.Arg1326Ser)
c.*2582C>A (n.*2582C>A)
c.2233C>A (p.Arg745Ser)
c.4003C>A (p.Arg1335Ser)
n.4018C>A
c.1516C>A (p.Arg506Ser)
11g.68433814C=CA1980622537LRP5c.3976C= (p.Arg1326=)
c.*2582C= (n.*2582C=)
c.2233C= (p.Arg745=)
c.4003C= (p.Arg1335=)
n.4018C=
c.1516C= (p.Arg506=)
11g.68433814C>GCA224251103LRP5c.3976C>G (p.Arg1326Gly)
c.*2582C>G (n.*2582C>G)
c.2233C>G (p.Arg745Gly)
c.4003C>G (p.Arg1335Gly)
n.4018C>G
c.1516C>G (p.Arg506Gly)
 dbSNP gnomAD v4
11g.68433814C>TCA381614018LRP5c.3976C>T (p.Arg1326Cys)
c.*2582C>T (n.*2582C>T)
c.2233C>T (p.Arg745Cys)
c.4003C>T (p.Arg1335Cys)
n.4018C>T
c.1516C>T (p.Arg506Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68433815_68433818delCA2792542424LRP5c.3977_3980del (p.Arg1326GlnfsTer?)
c.*2583_*2586del (n.*2583_*2586del)
c.2234_2237del (p.Arg745GlnfsTer?)
c.4004_4007del (p.Arg1335GlnfsTer?)
n.4019_4022del
c.1517_1520del (p.Arg506GlnfsTer?)
11g.68433815G>ACA6150173LRP5c.3977G>A (p.Arg1326His)
c.*2583G>A (n.*2583G>A)
c.2234G>A (p.Arg745His)
c.4004G>A (p.Arg1335His)
n.4019G>A
c.1517G>A (p.Arg506His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433815G>CCA381614019LRP5c.3977G>C (p.Arg1326Pro)
c.*2583G>C (n.*2583G>C)
c.2234G>C (p.Arg745Pro)
c.4004G>C (p.Arg1335Pro)
n.4019G>C
c.1517G>C (p.Arg506Pro)
 gnomAD v4
11g.68433815G=CA1980622551LRP5c.3977G= (p.Arg1326=)
c.*2583G= (n.*2583G=)
c.2234G= (p.Arg745=)
c.4004G= (p.Arg1335=)
n.4019G=
c.1517G= (p.Arg506=)
11g.68433815G>TCA224251122LRP5c.3977G>T (p.Arg1326Leu)
c.*2583G>T (n.*2583G>T)
c.2234G>T (p.Arg745Leu)
c.4004G>T (p.Arg1335Leu)
n.4019G>T
c.1517G>T (p.Arg506Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.68433816C>ACA6150174LRP5c.3978C>A (p.Arg1326=)
c.*2584C>A (n.*2584C>A)
c.2235C>A (p.Arg745=)
c.4005C>A (p.Arg1335=)
n.4020C>A
c.1518C>A (p.Arg506=)
 dbSNP ExAC gnomAD v2
11g.68433816C=CA1980622559LRP5c.3978C= (p.Arg1326=)
c.*2584C= (n.*2584C=)
c.2235C= (p.Arg745=)
c.4005C= (p.Arg1335=)
n.4020C=
c.1518C= (p.Arg506=)
11g.68433816C>GCA475460861LRP5c.3978C>G (p.Arg1326=)
c.*2584C>G (n.*2584C>G)
c.2235C>G (p.Arg745=)
c.4005C>G (p.Arg1335=)
n.4020C>G
c.1518C>G (p.Arg506=)
11g.68433816C>TCA475460862LRP5c.3978C>T (p.Arg1326=)
c.*2584C>T (n.*2584C>T)
c.2235C>T (p.Arg745=)
c.4005C>T (p.Arg1335=)
n.4020C>T
c.1518C>T (p.Arg506=)
 gnomAD v4
11g.68433817T>ACA381614020LRP5c.3979T>A (p.Ser1327Thr)
c.*2585T>A (n.*2585T>A)
c.2236T>A (p.Ser746Thr)
c.4006T>A (p.Ser1336Thr)
n.4021T>A
c.1519T>A (p.Ser507Thr)
11g.68433817T>CCA381614021LRP5c.3979T>C (p.Ser1327Pro)
c.*2585T>C (n.*2585T>C)
c.2236T>C (p.Ser746Pro)
c.4006T>C (p.Ser1336Pro)
n.4021T>C
c.1519T>C (p.Ser507Pro)
 gnomAD v4
11g.68433817T>GCA381614022LRP5c.3979T>G (p.Ser1327Ala)
c.*2585T>G (n.*2585T>G)
c.2236T>G (p.Ser746Ala)
c.4006T>G (p.Ser1336Ala)
n.4021T>G
c.1519T>G (p.Ser507Ala)
11g.68433818C>ACA381614023LRP5c.3980C>A (p.Ser1327Ter)
c.*2586C>A (n.*2586C>A)
c.2237C>A (p.Ser746Ter)
c.4007C>A (p.Ser1336Ter)
n.4022C>A
c.1520C>A (p.Ser507Ter)
 gnomAD v4
11g.68433818C>GCA381614024LRP5c.3980C>G (p.Ser1327Ter)
c.*2586C>G (n.*2586C>G)
c.2237C>G (p.Ser746Ter)
c.4007C>G (p.Ser1336Ter)
n.4022C>G
c.1520C>G (p.Ser507Ter)
11g.68433818C>TCA381614025LRP5c.3980C>T (p.Ser1327Leu)
c.*2586C>T (n.*2586C>T)
c.2237C>T (p.Ser746Leu)
c.4007C>T (p.Ser1336Leu)
n.4022C>T
c.1520C>T (p.Ser507Leu)
 gnomAD v4
11g.68433819A>CCA475460865LRP5c.3981A>C (p.Ser1327=)
c.*2587A>C (n.*2587A>C)
c.2238A>C (p.Ser746=)
c.4008A>C (p.Ser1336=)
n.4023A>C
c.1521A>C (p.Ser507=)
 gnomAD v4
11g.68433819A>GCA475460866LRP5c.3981A>G (p.Ser1327=)
c.*2587A>G (n.*2587A>G)
c.2238A>G (p.Ser746=)
c.4008A>G (p.Ser1336=)
n.4023A>G
c.1521A>G (p.Ser507=)
11g.68433819A>TCA475460867LRP5c.3981A>T (p.Ser1327=)
c.*2587A>T (n.*2587A>T)
c.2238A>T (p.Ser746=)
c.4008A>T (p.Ser1336=)
n.4023A>T
c.1521A>T (p.Ser507=)
11g.68433820G>ACA381614028LRP5c.3982G>A (p.Asp1328Asn)
c.*2588G>A (n.*2588G>A)
c.2239G>A (p.Asp747Asn)
c.4009G>A (p.Asp1337Asn)
n.4024G>A
c.1522G>A (p.Asp508Asn)
 gnomAD v4
11g.68433820G>CCA381614027LRP5c.3982G>C (p.Asp1328His)
c.*2588G>C (n.*2588G>C)
c.2239G>C (p.Asp747His)
c.4009G>C (p.Asp1337His)
n.4024G>C
c.1522G>C (p.Asp508His)
11g.68433820G>TCA381614026LRP5c.3982G>T (p.Asp1328Tyr)
c.*2588G>T (n.*2588G>T)
c.2239G>T (p.Asp747Tyr)
c.4009G>T (p.Asp1337Tyr)
n.4024G>T
c.1522G>T (p.Asp508Tyr)
11g.68433821A>CCA381614029LRP5c.3983A>C (p.Asp1328Ala)
c.*2589A>C (n.*2589A>C)
c.2240A>C (p.Asp747Ala)
c.4010A>C (p.Asp1337Ala)
n.4025A>C
c.1523A>C (p.Asp508Ala)
11g.68433821A>GCA381614030LRP5c.3983A>G (p.Asp1328Gly)
c.*2589A>G (n.*2589A>G)
c.2240A>G (p.Asp747Gly)
c.4010A>G (p.Asp1337Gly)
n.4025A>G
c.1523A>G (p.Asp508Gly)
11g.68433821A>TCA381614031LRP5c.3983A>T (p.Asp1328Val)
c.*2589A>T (n.*2589A>T)
c.2240A>T (p.Asp747Val)
c.4010A>T (p.Asp1337Val)
n.4025A>T
c.1523A>T (p.Asp508Val)
11g.68433822C>ACA6150176LRP5c.3984C>A (p.Asp1328Glu)
c.*2590C>A (n.*2590C>A)
c.2241C>A (p.Asp747Glu)
c.4011C>A (p.Asp1337Glu)
n.4026C>A
c.1524C>A (p.Asp508Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.68433822C=CA1980622566LRP5c.3984C= (p.Asp1328=)
c.*2590C= (n.*2590C=)
c.2241C= (p.Asp747=)
c.4011C= (p.Asp1337=)
n.4026C=
c.1524C= (p.Asp508=)
11g.68433822C>GCA381614032LRP5c.3984C>G (p.Asp1328Glu)
c.*2590C>G (n.*2590C>G)
c.2241C>G (p.Asp747Glu)
c.4011C>G (p.Asp1337Glu)
n.4026C>G
c.1524C>G (p.Asp508Glu)
 gnomAD v4
11g.68433822C>TCA6150175LRP5c.3984C>T (p.Asp1328=)
c.*2590C>T (n.*2590C>T)
c.2241C>T (p.Asp747=)
c.4011C>T (p.Asp1337=)
n.4026C>T
c.1524C>T (p.Asp508=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433823G>ACA6150177LRP5c.3985G>A (p.Glu1329Lys)
c.*2591G>A (n.*2591G>A)
c.2242G>A (p.Glu748Lys)
c.4012G>A (p.Glu1338Lys)
n.4027G>A
c.1525G>A (p.Glu509Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433823G>CCA381614033LRP5c.3985G>C (p.Glu1329Gln)
c.*2591G>C (n.*2591G>C)
c.2242G>C (p.Glu748Gln)
c.4012G>C (p.Glu1338Gln)
n.4027G>C
c.1525G>C (p.Glu509Gln)
11g.68433823G=CA1980622572LRP5c.3985G= (p.Glu1329=)
c.*2591G= (n.*2591G=)
c.2242G= (p.Glu748=)
c.4012G= (p.Glu1338=)
n.4027G=
c.1525G= (p.Glu509=)
11g.68433823G>TCA381614034LRP5c.3985G>T (p.Glu1329Ter)
c.*2591G>T (n.*2591G>T)
c.2242G>T (p.Glu748Ter)
c.4012G>T (p.Glu1338Ter)
n.4027G>T
c.1525G>T (p.Glu509Ter)
 gnomAD v4
11g.68433825_68433836dupCA600239234LRP5c.3987_3998dup (p.Cys1332_Asp1333insGluAlaAspCys)
c.*2593_*2604dup (n.*2593_*2604dup)
c.2244_2255dup (p.Cys751_Asp752insGluAlaAspCys)
c.4014_4025dup (p.Cys1341_Asp1342insGluAlaAspCys)
n.4029_4040dup
c.1527_1538dup (p.Cys512_Asp513insGluAlaAspCys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68433824A=CA1980622577LRP5c.3986A= (p.Glu1329=)
c.*2592A= (n.*2592A=)
c.2243A= (p.Glu748=)
c.4013A= (p.Glu1338=)
n.4028A=
c.1526A= (p.Glu509=)
11g.68433824A>CCA381614035LRP5c.3986A>C (p.Glu1329Ala)
c.*2592A>C (n.*2592A>C)
c.2243A>C (p.Glu748Ala)
c.4013A>C (p.Glu1338Ala)
n.4028A>C
c.1526A>C (p.Glu509Ala)
11g.68433824A>GCA381614036LRP5c.3986A>G (p.Glu1329Gly)
c.*2592A>G (n.*2592A>G)
c.2243A>G (p.Glu748Gly)
c.4013A>G (p.Glu1338Gly)
n.4028A>G
c.1526A>G (p.Glu509Gly)
 dbSNP gnomAD v2 gnomAD v4
11g.68433824A>TCA381614037LRP5c.3986A>T (p.Glu1329Val)
c.*2592A>T (n.*2592A>T)
c.2243A>T (p.Glu748Val)
c.4013A>T (p.Glu1338Val)
n.4028A>T
c.1526A>T (p.Glu509Val)
11g.68433825G>ACA6150178LRP5c.3987G>A (p.Glu1329=)
c.*2593G>A (n.*2593G>A)
c.2244G>A (p.Glu748=)
c.4014G>A (p.Glu1338=)
n.4029G>A
c.1527G>A (p.Glu509=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433825G>CCA6150179LRP5c.3987G>C (p.Glu1329Asp)
c.*2593G>C (n.*2593G>C)
c.2244G>C (p.Glu748Asp)
c.4014G>C (p.Glu1338Asp)
n.4029G>C
c.1527G>C (p.Glu509Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68433825G=CA1980622585LRP5c.3987G= (p.Glu1329=)
c.*2593G= (n.*2593G=)
c.2244G= (p.Glu748=)
c.4014G= (p.Glu1338=)
n.4029G=
c.1527G= (p.Glu509=)
11g.68433825G>TCA381614038LRP5c.3987G>T (p.Glu1329Asp)
c.*2593G>T (n.*2593G>T)
c.2244G>T (p.Glu748Asp)
c.4014G>T (p.Glu1338Asp)
n.4029G>T
c.1527G>T (p.Glu509Asp)
 gnomAD v4
11g.68433826G>ACA381614039LRP5c.3988G>A (p.Ala1330Thr)
c.*2594G>A (n.*2594G>A)
c.2245G>A (p.Ala749Thr)
c.4015G>A (p.Ala1339Thr)
n.4030G>A
c.1528G>A (p.Ala510Thr)
 dbSNP gnomAD v4
11g.68433826G>CCA381614040LRP5c.3988G>C (p.Ala1330Pro)
c.*2594G>C (n.*2594G>C)
c.2245G>C (p.Ala749Pro)
c.4015G>C (p.Ala1339Pro)
n.4030G>C
c.1528G>C (p.Ala510Pro)
11g.68433826G>TCA381614041LRP5c.3988G>T (p.Ala1330Ser)
c.*2594G>T (n.*2594G>T)
c.2245G>T (p.Ala749Ser)
c.4015G>T (p.Ala1339Ser)
n.4030G>T
c.1528G>T (p.Ala510Ser)
 gnomAD v4
11g.68433827C>ACA381614042LRP5c.3989C>A (p.Ala1330Glu)
c.*2595C>A (n.*2595C>A)
c.2246C>A (p.Ala749Glu)
c.4016C>A (p.Ala1339Glu)
n.4031C>A
c.1529C>A (p.Ala510Glu)
11g.68433827C=CA1980622591LRP5c.3989C= (p.Ala1330=)
c.*2595C= (n.*2595C=)
c.2246C= (p.Ala749=)
c.4016C= (p.Ala1339=)
n.4031C=
c.1529C= (p.Ala510=)
11g.68433827C>GCA381614043LRP5c.3989C>G (p.Ala1330Gly)
c.*2595C>G (n.*2595C>G)
c.2246C>G (p.Ala749Gly)
c.4016C>G (p.Ala1339Gly)
n.4031C>G
c.1529C>G (p.Ala510Gly)
11g.68433827C>TCA6150180LRP5c.3989C>T (p.Ala1330Val)
c.*2595C>T (n.*2595C>T)
c.2246C>T (p.Ala749Val)
c.4016C>T (p.Ala1339Val)
n.4031C>T
c.1529C>T (p.Ala510Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433828G>ACA241024LRP5c.3990G>A (p.Ala1330=)
c.*2596G>A (n.*2596G>A)
c.2247G>A (p.Ala749=)
c.4017G>A (p.Ala1339=)
n.4032G>A
c.1530G>A (p.Ala510=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433828G>CCA475460878LRP5c.3990G>C (p.Ala1330=)
c.*2596G>C (n.*2596G>C)
c.2247G>C (p.Ala749=)
c.4017G>C (p.Ala1339=)
n.4032G>C
c.1530G>C (p.Ala510=)
11g.68433828G=CA1980622598LRP5c.3990G= (p.Ala1330=)
c.*2596G= (n.*2596G=)
c.2247G= (p.Ala749=)
c.4017G= (p.Ala1339=)
n.4032G=
c.1530G= (p.Ala510=)
11g.68433828G>TCA475460877LRP5c.3990G>T (p.Ala1330=)
c.*2596G>T (n.*2596G>T)
c.2247G>T (p.Ala749=)
c.4017G>T (p.Ala1339=)
n.4032G>T
c.1530G>T (p.Ala510=)
11g.68433829G>ACA381614044LRP5c.3991G>A (p.Asp1331Asn)
c.*2597G>A (n.*2597G>A)
c.2248G>A (p.Asp750Asn)
c.4018G>A (p.Asp1340Asn)
n.4033G>A
c.1531G>A (p.Asp511Asn)
 COSMIC
11g.68433829G>CCA381614045LRP5c.3991G>C (p.Asp1331His)
c.*2597G>C (n.*2597G>C)
c.2248G>C (p.Asp750His)
c.4018G>C (p.Asp1340His)
n.4033G>C
c.1531G>C (p.Asp511His)
11g.68433829G>TCA381614046LRP5c.3991G>T (p.Asp1331Tyr)
c.*2597G>T (n.*2597G>T)
c.2248G>T (p.Asp750Tyr)
c.4018G>T (p.Asp1340Tyr)
n.4033G>T
c.1531G>T (p.Asp511Tyr)
 gnomAD v4
11g.68433830A=CA1980622608LRP5c.3992A= (p.Asp1331=)
c.*2598A= (n.*2598A=)
c.2249A= (p.Asp750=)
c.4019A= (p.Asp1340=)
n.4034A=
c.1532A= (p.Asp511=)
11g.68433830A>CCA381614047LRP5c.3992A>C (p.Asp1331Ala)
c.*2598A>C (n.*2598A>C)
c.2249A>C (p.Asp750Ala)
c.4019A>C (p.Asp1340Ala)
n.4034A>C
c.1532A>C (p.Asp511Ala)
11g.68433830A>GCA381614048LRP5c.3992A>G (p.Asp1331Gly)
c.*2598A>G (n.*2598A>G)
c.2249A>G (p.Asp750Gly)
c.4019A>G (p.Asp1340Gly)
n.4034A>G
c.1532A>G (p.Asp511Gly)
11g.68433830A>TCA381614049LRP5c.3992A>T (p.Asp1331Val)
c.*2598A>T (n.*2598A>T)
c.2249A>T (p.Asp750Val)
c.4019A>T (p.Asp1340Val)
n.4034A>T
c.1532A>T (p.Asp511Val)
 dbSNP gnomAD v3 gnomAD v4
11g.68433831C>ACA381614050LRP5c.3993C>A (p.Asp1331Glu)
c.*2599C>A (n.*2599C>A)
c.2250C>A (p.Asp750Glu)
c.4020C>A (p.Asp1340Glu)
n.4035C>A
c.1533C>A (p.Asp511Glu)
11g.68433831C>GCA381614051LRP5c.3993C>G (p.Asp1331Glu)
c.*2599C>G (n.*2599C>G)
c.2250C>G (p.Asp750Glu)
c.4020C>G (p.Asp1340Glu)
n.4035C>G
c.1533C>G (p.Asp511Glu)
11g.68433831C>TCA475460882LRP5c.3993C>T (p.Asp1331=)
c.*2599C>T (n.*2599C>T)
c.2250C>T (p.Asp750=)
c.4020C>T (p.Asp1340=)
n.4035C>T
c.1533C>T (p.Asp511=)
11g.68433832T>ACA381614052LRP5c.3994T>A (p.Cys1332Ser)
c.*2600T>A (n.*2600T>A)
c.2251T>A (p.Cys751Ser)
c.4021T>A (p.Cys1341Ser)
n.4036T>A
c.1534T>A (p.Cys512Ser)
11g.68433832T>CCA381614054LRP5c.3994T>C (p.Cys1332Arg)
c.*2600T>C (n.*2600T>C)
c.2251T>C (p.Cys751Arg)
c.4021T>C (p.Cys1341Arg)
n.4036T>C
c.1534T>C (p.Cys512Arg)
11g.68433832T>GCA381614053LRP5c.3994T>G (p.Cys1332Gly)
c.*2600T>G (n.*2600T>G)
c.2251T>G (p.Cys751Gly)
c.4021T>G (p.Cys1341Gly)
n.4036T>G
c.1534T>G (p.Cys512Gly)
11g.68433833G>ACA381614055LRP5c.3995G>A (p.Cys1332Tyr)
c.*2601G>A (n.*2601G>A)
c.2252G>A (p.Cys751Tyr)
c.4022G>A (p.Cys1341Tyr)
n.4037G>A
c.1535G>A (p.Cys512Tyr)
 gnomAD v4
11g.68433833G>CCA381614056LRP5c.3995G>C (p.Cys1332Ser)
c.*2601G>C (n.*2601G>C)
c.2252G>C (p.Cys751Ser)
c.4022G>C (p.Cys1341Ser)
n.4037G>C
c.1535G>C (p.Cys512Ser)
11g.68433833G>TCA381614057LRP5c.3995G>T (p.Cys1332Phe)
c.*2601G>T (n.*2601G>T)
c.2252G>T (p.Cys751Phe)
c.4022G>T (p.Cys1341Phe)
n.4037G>T
c.1535G>T (p.Cys512Phe)
11g.68433834T>ACA381614058LRP5c.3996T>A (p.Cys1332Ter)
c.*2602T>A (n.*2602T>A)
c.2253T>A (p.Cys751Ter)
c.4023T>A (p.Cys1341Ter)
n.4038T>A
c.1536T>A (p.Cys512Ter)
11g.68433834T>CCA475460884LRP5c.3996T>C (p.Cys1332=)
c.*2602T>C (n.*2602T>C)
c.2253T>C (p.Cys751=)
c.4023T>C (p.Cys1341=)
n.4038T>C
c.1536T>C (p.Cys512=)
11g.68433834T>GCA381614059LRP5c.3996T>G (p.Cys1332Trp)
c.*2602T>G (n.*2602T>G)
c.2253T>G (p.Cys751Trp)
c.4023T>G (p.Cys1341Trp)
n.4038T>G
c.1536T>G (p.Cys512Trp)
11g.68433835G>ACA381614060LRP5c.3997G>A (p.Asp1333Asn)
c.*2603G>A (n.*2603G>A)
c.2254G>A (p.Asp752Asn)
c.4024G>A (p.Asp1342Asn)
n.4039G>A
c.1537G>A (p.Asp513Asn)
11g.68433835G>CCA381614061LRP5c.3997G>C (p.Asp1333His)
c.*2603G>C (n.*2603G>C)
c.2254G>C (p.Asp752His)
c.4024G>C (p.Asp1342His)
n.4039G>C
c.1537G>C (p.Asp513His)
 gnomAD v4
11g.68433835G>TCA381614062LRP5c.3997G>T (p.Asp1333Tyr)
c.*2603G>T (n.*2603G>T)
c.2254G>T (p.Asp752Tyr)
c.4024G>T (p.Asp1342Tyr)
n.4039G>T
c.1537G>T (p.Asp513Tyr)
 gnomAD v4
11g.68433836A>CCA381614063LRP5c.3998A>C (p.Asp1333Ala)
c.*2604A>C (n.*2604A>C)
c.2255A>C (p.Asp752Ala)
c.4025A>C (p.Asp1342Ala)
n.4040A>C
c.1538A>C (p.Asp513Ala)
11g.68433836A>GCA381614064LRP5c.3998A>G (p.Asp1333Gly)
c.*2604A>G (n.*2604A>G)
c.2255A>G (p.Asp752Gly)
c.4025A>G (p.Asp1342Gly)
n.4040A>G
c.1538A>G (p.Asp513Gly)
11g.68433836A>TCA381614065LRP5c.3998A>T (p.Asp1333Val)
c.*2604A>T (n.*2604A>T)
c.2255A>T (p.Asp752Val)
c.4025A>T (p.Asp1342Val)
n.4040A>T
c.1538A>T (p.Asp513Val)
11g.68433837C>ACA381614067LRP5c.3999C>A (p.Asp1333Glu)
c.*2605C>A (n.*2605C>A)
c.2256C>A (p.Asp752Glu)
c.4026C>A (p.Asp1342Glu)
n.4041C>A
c.1539C>A (p.Asp513Glu)
 gnomAD v4
11g.68433837C=CA1980622611LRP5c.3999C= (p.Asp1333=)
c.*2605C= (n.*2605C=)
c.2256C= (p.Asp752=)
c.4026C= (p.Asp1342=)
n.4041C=
c.1539C= (p.Asp513=)
11g.68433837C>GCA381614066LRP5c.3999C>G (p.Asp1333Glu)
c.*2605C>G (n.*2605C>G)
c.2256C>G (p.Asp752Glu)
c.4026C>G (p.Asp1342Glu)
n.4041C>G
c.1539C>G (p.Asp513Glu)
11g.68433837C>TCA6150181LRP5c.3999C>T (p.Asp1333=)
c.*2605C>T (n.*2605C>T)
c.2256C>T (p.Asp752=)
c.4026C>T (p.Asp1342=)
n.4041C>T
c.1539C>T (p.Asp513=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433838G>ACA6150182LRP5c.4000G>A (p.Ala1334Thr)
c.*2606G>A (n.*2606G>A)
c.2257G>A (p.Ala753Thr)
c.4027G>A (p.Ala1343Thr)
n.4042G>A
c.1540G>A (p.Ala514Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68433838G>CCA381614068LRP5c.4000G>C (p.Ala1334Pro)
c.*2606G>C (n.*2606G>C)
c.2257G>C (p.Ala753Pro)
c.4027G>C (p.Ala1343Pro)
n.4042G>C
c.1540G>C (p.Ala514Pro)
11g.68433838G=CA1980622614LRP5c.4000G= (p.Ala1334=)
c.*2606G= (n.*2606G=)
c.2257G= (p.Ala753=)
c.4027G= (p.Ala1343=)
n.4042G=
c.1540G= (p.Ala514=)
11g.68433838G>TCA381614069LRP5c.4000G>T (p.Ala1334Ser)
c.*2606G>T (n.*2606G>T)
c.2257G>T (p.Ala753Ser)
c.4027G>T (p.Ala1343Ser)
n.4042G>T
c.1540G>T (p.Ala514Ser)
 gnomAD v4 COSMIC
11g.68433838_68433839insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGCCA2724556268LRP5c.4000_4000+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC (n.4000_4000+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC)
c.*2606_*2606+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC (n.*2606_*2606+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC)
c.2257_2257+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC (n.2257_2257+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC)
c.4027_4027+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC (n.4027_4027+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC)
n.4042_4042+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC
c.1540_1540+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC (n.1540_1540+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC)
 dbSNP
11g.68433839G>ACA381614070LRP5c.4000+1G>A (n.4000+1G>A)
c.*2606+1G>A (n.*2606+1G>A)
c.2257+1G>A (n.2257+1G>A)
c.4027+1G>A (n.4027+1G>A)
n.4042+1G>A
c.1540+1G>A (n.1540+1G>A)
11g.68433839G>CCA381614071LRP5c.4000+1G>C (n.4000+1G>C)
c.*2606+1G>C (n.*2606+1G>C)
c.2257+1G>C (n.2257+1G>C)
c.4027+1G>C (n.4027+1G>C)
n.4042+1G>C
c.1540+1G>C (n.1540+1G>C)
11g.68433839G=CA1980622640LRP5c.4000+1G= (n.4000+1G=)
c.*2606+1G= (n.*2606+1G=)
c.2257+1G= (n.2257+1G=)
c.4027+1G= (n.4027+1G=)
n.4042+1G=
c.1540+1G= (n.1540+1G=)
11g.68433839G>TCA381614072LRP5c.4000+1G>T (n.4000+1G>T)
c.*2606+1G>T (n.*2606+1G>T)
c.2257+1G>T (n.2257+1G>T)
c.4027+1G>T (n.4027+1G>T)
n.4042+1G>T
c.1540+1G>T (n.1540+1G>T)
 ClinVar dbSNP
11g.68433840T>ACA381614073LRP5c.4000+2T>A (n.4000+2T>A)
c.*2606+2T>A (n.*2606+2T>A)
c.2257+2T>A (n.2257+2T>A)
c.4027+2T>A (n.4027+2T>A)
n.4042+2T>A
c.1540+2T>A (n.1540+2T>A)
11g.68433840T>CCA381614074LRP5c.4000+2T>C (n.4000+2T>C)
c.*2606+2T>C (n.*2606+2T>C)
c.2257+2T>C (n.2257+2T>C)
c.4027+2T>C (n.4027+2T>C)
n.4042+2T>C
c.1540+2T>C (n.1540+2T>C)
11g.68433840T>GCA381614075LRP5c.4000+2T>G (n.4000+2T>G)
c.*2606+2T>G (n.*2606+2T>G)
c.2257+2T>G (n.2257+2T>G)
c.4027+2T>G (n.4027+2T>G)
n.4042+2T>G
c.1540+2T>G (n.1540+2T>G)
 dbSNP gnomAD v4
11g.68433840T=CA1980622643LRP5c.4000+2T= (n.4000+2T=)
c.*2606+2T= (n.*2606+2T=)
c.2257+2T= (n.2257+2T=)
c.4027+2T= (n.4027+2T=)
n.4042+2T=
c.1540+2T= (n.1540+2T=)
11g.68433843G>CCA2614715768LRP5c.4000+5G>C (n.4000+5G>C)
c.*2606+5G>C (n.*2606+5G>C)
c.2257+5G>C (n.2257+5G>C)
c.4027+5G>C (n.4027+5G>C)
n.4042+5G>C
c.1540+5G>C (n.1540+5G>C)
 gnomAD v4
11g.68433844G>TCA2614715770LRP5c.4000+6G>T (n.4000+6G>T)
c.*2606+6G>T (n.*2606+6G>T)
c.2257+6G>T (n.2257+6G>T)
c.4027+6G>T (n.4027+6G>T)
n.4042+6G>T
c.1540+6G>T (n.1540+6G>T)
 gnomAD v4
11g.68433845C=CA1980622648LRP5c.4000+7C= (n.4000+7C=)
c.*2606+7C= (n.*2606+7C=)
c.2257+7C= (n.2257+7C=)
c.4027+7C= (n.4027+7C=)
n.4042+7C=
c.1540+7C= (n.1540+7C=)
11g.68433845C>GCA6150183LRP5c.4000+7C>G (n.4000+7C>G)
c.*2606+7C>G (n.*2606+7C>G)
c.2257+7C>G (n.2257+7C>G)
c.4027+7C>G (n.4027+7C>G)
n.4042+7C>G
c.1540+7C>G (n.1540+7C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.68433845C>TCA2614715771LRP5c.4000+7C>T (n.4000+7C>T)
c.*2606+7C>T (n.*2606+7C>T)
c.2257+7C>T (n.2257+7C>T)
c.4027+7C>T (n.4027+7C>T)
n.4042+7C>T
c.1540+7C>T (n.1540+7C>T)
 gnomAD v4
11g.68433845_68433846insACA2792542425LRP5c.4000+7_4000+8insA (n.4000+7_4000+8insA)
c.*2606+7_*2606+8insA (n.*2606+7_*2606+8insA)
c.2257+7_2257+8insA (n.2257+7_2257+8insA)
c.4027+7_4027+8insA (n.4027+7_4027+8insA)
n.4042+7_4042+8insA
c.1540+7_1540+8insA (n.1540+7_1540+8insA)
11g.68433846C=CA1980622652LRP5c.4000+8C= (n.4000+8C=)
c.*2606+8C= (n.*2606+8C=)
c.2257+8C= (n.2257+8C=)
c.4027+8C= (n.4027+8C=)
n.4042+8C=
c.1540+8C= (n.1540+8C=)
11g.68433846C>TCA600239235LRP5c.4000+8C>T (n.4000+8C>T)
c.*2606+8C>T (n.*2606+8C>T)
c.2257+8C>T (n.2257+8C>T)
c.4027+8C>T (n.4027+8C>T)
n.4042+8C>T
c.1540+8C>T (n.1540+8C>T)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched