Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68448834C>ACA381617877LRP5c.4612C>A (p.Pro1538Thr)
n.203C>A
c.282C>A
c.*3218C>A (n.*3218C>A)
c.2869C>A (p.Pro957Thr)
c.4726C>A (p.Pro1576Thr)
c.4753C>A (p.Pro1585Thr)
c.4639C>A (p.Pro1547Thr)
c.4769C>A (p.Ala1590Asp)
n.4999C>A
n.5015C>A
c.2983C>A (p.Pro995Thr)
c.2266C>A (p.Pro756Thr)
11g.68448834C=CA1980666872LRP5c.4612C= (p.Pro1538=)
n.203C=
c.282C=
c.*3218C= (n.*3218C=)
c.2869C= (p.Pro957=)
c.4726C= (p.Pro1576=)
c.4753C= (p.Pro1585=)
c.4639C= (p.Pro1547=)
c.4769C= (p.Ala1590=)
n.4999C=
n.5015C=
c.2983C= (p.Pro995=)
c.2266C= (p.Pro756=)
11g.68448834C>GCA381617879LRP5c.4612C>G (p.Pro1538Ala)
n.203C>G
c.282C>G
c.*3218C>G (n.*3218C>G)
c.2869C>G (p.Pro957Ala)
c.4726C>G (p.Pro1576Ala)
c.4753C>G (p.Pro1585Ala)
c.4639C>G (p.Pro1547Ala)
c.4769C>G (p.Ala1590Gly)
n.4999C>G
n.5015C>G
c.2983C>G (p.Pro995Ala)
c.2266C>G (p.Pro756Ala)
11g.68448834C>TCA381617881LRP5c.4612C>T (p.Pro1538Ser)
n.203C>T
c.282C>T
c.*3218C>T (n.*3218C>T)
c.2869C>T (p.Pro957Ser)
c.4726C>T (p.Pro1576Ser)
c.4753C>T (p.Pro1585Ser)
c.4639C>T (p.Pro1547Ser)
c.4769C>T (p.Ala1590Val)
n.4999C>T
n.5015C>T
c.2983C>T (p.Pro995Ser)
c.2266C>T (p.Pro756Ser)
 dbSNP gnomAD v4
11g.68448838dupCA2792543545LRP5c.4616dup (p.Thr1540AspfsTer10)
n.207dup
c.286dup
c.*3222dup (n.*3222dup)
c.2873dup (p.Thr959AspfsTer10)
c.4730dup (p.Thr1578AspfsTer10)
c.4757dup (p.Thr1587AspfsTer10)
c.4643dup (p.Thr1549AspfsTer10)
c.4773dup (p.Asp1592ArgfsTer28)
n.5003dup
n.5019dup
c.2987dup (p.Thr997AspfsTer10)
c.2270dup (p.Thr758AspfsTer10)
11g.68448838delCA2614718075LRP5c.4616del (p.Pro1539ArgfsTer28)
n.207del
c.286del
c.*3222del (n.*3222del)
c.2873del (p.Pro958ArgfsTer28)
c.4730del (p.Pro1577ArgfsTer28)
c.4757del (p.Pro1586ArgfsTer28)
c.4643del (p.Pro1548ArgfsTer28)
c.4773del (p.Asp1592ThrfsTer?)
n.5003del
n.5019del
c.2987del (p.Pro996ArgfsTer28)
c.2270del (p.Pro757ArgfsTer28)
 gnomAD v4
11g.68448835C>ACA381617883LRP5c.4613C>A (p.Pro1538His)
n.204C>A
c.283C>A
c.*3219C>A (n.*3219C>A)
c.2870C>A (p.Pro957His)
c.4727C>A (p.Pro1576His)
c.4754C>A (p.Pro1585His)
c.4640C>A (p.Pro1547His)
c.4770C>A (p.Ala1590=)
n.5000C>A
n.5016C>A
c.2984C>A (p.Pro995His)
c.2267C>A (p.Pro756His)
 dbSNP
11g.68448835C=CA1980666876LRP5c.4613C= (p.Pro1538=)
n.204C=
c.283C=
c.*3219C= (n.*3219C=)
c.2870C= (p.Pro957=)
c.4727C= (p.Pro1576=)
c.4754C= (p.Pro1585=)
c.4640C= (p.Pro1547=)
c.4770C= (p.Ala1590=)
n.5000C=
n.5016C=
c.2984C= (p.Pro995=)
c.2267C= (p.Pro756=)
11g.68448835C>GCA6150465LRP5c.4613C>G (p.Pro1538Arg)
n.204C>G
c.283C>G
c.*3219C>G (n.*3219C>G)
c.2870C>G (p.Pro957Arg)
c.4727C>G (p.Pro1576Arg)
c.4754C>G (p.Pro1585Arg)
c.4640C>G (p.Pro1547Arg)
c.4770C>G (p.Ala1590=)
n.5000C>G
n.5016C>G
c.2984C>G (p.Pro995Arg)
c.2267C>G (p.Pro756Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448835C>TCA381617886LRP5c.4613C>T (p.Pro1538Leu)
n.204C>T
c.283C>T
c.*3219C>T (n.*3219C>T)
c.2870C>T (p.Pro957Leu)
c.4727C>T (p.Pro1576Leu)
c.4754C>T (p.Pro1585Leu)
c.4640C>T (p.Pro1547Leu)
c.4770C>T (p.Ala1590=)
n.5000C>T
n.5016C>T
c.2984C>T (p.Pro995Leu)
c.2267C>T (p.Pro756Leu)
 gnomAD v4
11g.68448836C>ACA475462510LRP5c.4614C>A (p.Pro1538=)
n.205C>A
c.284C>A
c.*3220C>A (n.*3220C>A)
c.2871C>A (p.Pro957=)
c.4728C>A (p.Pro1576=)
c.4755C>A (p.Pro1585=)
c.4641C>A (p.Pro1547=)
c.4771C>A (p.Pro1591Thr)
n.5001C>A
n.5017C>A
c.2985C>A (p.Pro995=)
c.2268C>A (p.Pro756=)
11g.68448836C=CA1980666880LRP5c.4614C= (p.Pro1538=)
n.205C=
c.284C=
c.*3220C= (n.*3220C=)
c.2871C= (p.Pro957=)
c.4728C= (p.Pro1576=)
c.4755C= (p.Pro1585=)
c.4641C= (p.Pro1547=)
c.4771C= (p.Pro1591=)
n.5001C=
n.5017C=
c.2985C= (p.Pro995=)
c.2268C= (p.Pro756=)
11g.68448836C>GCA475462511LRP5c.4614C>G (p.Pro1538=)
n.205C>G
c.284C>G
c.*3220C>G (n.*3220C>G)
c.2871C>G (p.Pro957=)
c.4728C>G (p.Pro1576=)
c.4755C>G (p.Pro1585=)
c.4641C>G (p.Pro1547=)
c.4771C>G (p.Pro1591Ala)
n.5001C>G
n.5017C>G
c.2985C>G (p.Pro995=)
c.2268C>G (p.Pro756=)
11g.68448836C>TCA475462512LRP5c.4614C>T (p.Pro1538=)
n.205C>T
c.284C>T
c.*3220C>T (n.*3220C>T)
c.2871C>T (p.Pro957=)
c.4728C>T (p.Pro1576=)
c.4755C>T (p.Pro1585=)
c.4641C>T (p.Pro1547=)
c.4771C>T (p.Pro1591Ser)
n.5001C>T
n.5017C>T
c.2985C>T (p.Pro995=)
c.2268C>T (p.Pro756=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.68448837C>ACA381617890LRP5c.4615C>A (p.Pro1539Thr)
n.206C>A
c.285C>A
c.*3221C>A (n.*3221C>A)
c.2872C>A (p.Pro958Thr)
c.4729C>A (p.Pro1577Thr)
c.4756C>A (p.Pro1586Thr)
c.4642C>A (p.Pro1548Thr)
c.4772C>A (p.Pro1591His)
n.5002C>A
n.5018C>A
c.2986C>A (p.Pro996Thr)
c.2269C>A (p.Pro757Thr)
 gnomAD v4
11g.68448837C=CA1980666882LRP5c.4615C= (p.Pro1539=)
n.206C=
c.285C=
c.*3221C= (n.*3221C=)
c.2872C= (p.Pro958=)
c.4729C= (p.Pro1577=)
c.4756C= (p.Pro1586=)
c.4642C= (p.Pro1548=)
c.4772C= (p.Pro1591=)
n.5002C=
n.5018C=
c.2986C= (p.Pro996=)
c.2269C= (p.Pro757=)
11g.68448837C>GCA224260683LRP5c.4615C>G (p.Pro1539Ala)
n.206C>G
c.285C>G
c.*3221C>G (n.*3221C>G)
c.2872C>G (p.Pro958Ala)
c.4729C>G (p.Pro1577Ala)
c.4756C>G (p.Pro1586Ala)
c.4642C>G (p.Pro1548Ala)
c.4772C>G (p.Pro1591Arg)
n.5002C>G
n.5018C>G
c.2986C>G (p.Pro996Ala)
c.2269C>G (p.Pro757Ala)
 dbSNP gnomAD v4
11g.68448837C>TCA381617888LRP5c.4615C>T (p.Pro1539Ser)
n.206C>T
c.285C>T
c.*3221C>T (n.*3221C>T)
c.2872C>T (p.Pro958Ser)
c.4729C>T (p.Pro1577Ser)
c.4756C>T (p.Pro1586Ser)
c.4642C>T (p.Pro1548Ser)
c.4772C>T (p.Pro1591Leu)
n.5002C>T
n.5018C>T
c.2986C>T (p.Pro996Ser)
c.2269C>T (p.Pro757Ser)
11g.68448838C>ACA381617892LRP5c.4616C>A (p.Pro1539Gln)
n.207C>A
c.286C>A
c.*3222C>A (n.*3222C>A)
c.2873C>A (p.Pro958Gln)
c.4730C>A (p.Pro1577Gln)
c.4757C>A (p.Pro1586Gln)
c.4643C>A (p.Pro1548Gln)
c.4773C>A (p.Pro1591=)
n.5003C>A
n.5019C>A
c.2987C>A (p.Pro996Gln)
c.2270C>A (p.Pro757Gln)
11g.68448838C=CA1980666884LRP5c.4616C= (p.Pro1539=)
n.207C=
c.286C=
c.*3222C= (n.*3222C=)
c.2873C= (p.Pro958=)
c.4730C= (p.Pro1577=)
c.4757C= (p.Pro1586=)
c.4643C= (p.Pro1548=)
c.4773C= (p.Pro1591=)
n.5003C=
n.5019C=
c.2987C= (p.Pro996=)
c.2270C= (p.Pro757=)
11g.68448838C>GCA381617894LRP5c.4616C>G (p.Pro1539Arg)
n.207C>G
c.286C>G
c.*3222C>G (n.*3222C>G)
c.2873C>G (p.Pro958Arg)
c.4730C>G (p.Pro1577Arg)
c.4757C>G (p.Pro1586Arg)
c.4643C>G (p.Pro1548Arg)
c.4773C>G (p.Pro1591=)
n.5003C>G
n.5019C>G
c.2987C>G (p.Pro996Arg)
c.2270C>G (p.Pro757Arg)
11g.68448838C>TCA6150466LRP5c.4616C>T (p.Pro1539Leu)
n.207C>T
c.286C>T
c.*3222C>T (n.*3222C>T)
c.2873C>T (p.Pro958Leu)
c.4730C>T (p.Pro1577Leu)
c.4757C>T (p.Pro1586Leu)
c.4643C>T (p.Pro1548Leu)
c.4773C>T (p.Pro1591=)
n.5003C>T
n.5019C>T
c.2987C>T (p.Pro996Leu)
c.2270C>T (p.Pro757Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448839G>ACA475462513LRP5c.4617G>A (p.Pro1539=)
n.208G>A
c.287G>A
c.*3223G>A (n.*3223G>A)
c.2874G>A (p.Pro958=)
c.4731G>A (p.Pro1577=)
c.4758G>A (p.Pro1586=)
c.4644G>A (p.Pro1548=)
c.4774G>A (p.Asp1592Asn)
n.5004G>A
n.5020G>A
c.2988G>A (p.Pro996=)
c.2271G>A (p.Pro757=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.68448839G>CCA475462514LRP5c.4617G>C (p.Pro1539=)
n.208G>C
c.287G>C
c.*3223G>C (n.*3223G>C)
c.2874G>C (p.Pro958=)
c.4731G>C (p.Pro1577=)
c.4758G>C (p.Pro1586=)
c.4644G>C (p.Pro1548=)
c.4774G>C (p.Asp1592His)
n.5004G>C
n.5020G>C
c.2988G>C (p.Pro996=)
c.2271G>C (p.Pro757=)
11g.68448839G=CA1980666889LRP5c.4617G= (p.Pro1539=)
n.208G=
c.287G=
c.*3223G= (n.*3223G=)
c.2874G= (p.Pro958=)
c.4731G= (p.Pro1577=)
c.4758G= (p.Pro1586=)
c.4644G= (p.Pro1548=)
c.4774G= (p.Asp1592=)
n.5004G=
n.5020G=
c.2988G= (p.Pro996=)
c.2271G= (p.Pro757=)
11g.68448839G>TCA475462515LRP5c.4617G>T (p.Pro1539=)
n.208G>T
c.287G>T
c.*3223G>T (n.*3223G>T)
c.2874G>T (p.Pro958=)
c.4731G>T (p.Pro1577=)
c.4758G>T (p.Pro1586=)
c.4644G>T (p.Pro1548=)
c.4774G>T (p.Asp1592Tyr)
n.5004G>T
n.5020G>T
c.2988G>T (p.Pro996=)
c.2271G>T (p.Pro757=)
11g.68448840A>CCA381617897LRP5c.4618A>C (p.Thr1540Pro)
n.209A>C
c.288A>C
c.*3224A>C (n.*3224A>C)
c.2875A>C (p.Thr959Pro)
c.4732A>C (p.Thr1578Pro)
c.4759A>C (p.Thr1587Pro)
c.4645A>C (p.Thr1549Pro)
c.4775A>C (p.Asp1592Ala)
n.5005A>C
n.5021A>C
c.2989A>C (p.Thr997Pro)
c.2272A>C (p.Thr758Pro)
11g.68448840A>GCA381617899LRP5c.4618A>G (p.Thr1540Ala)
n.209A>G
c.288A>G
c.*3224A>G (n.*3224A>G)
c.2875A>G (p.Thr959Ala)
c.4732A>G (p.Thr1578Ala)
c.4759A>G (p.Thr1587Ala)
c.4645A>G (p.Thr1549Ala)
c.4775A>G (p.Asp1592Gly)
n.5005A>G
n.5021A>G
c.2989A>G (p.Thr997Ala)
c.2272A>G (p.Thr758Ala)
11g.68448840A>TCA381617900LRP5c.4618A>T (p.Thr1540Ser)
n.209A>T
c.288A>T
c.*3224A>T (n.*3224A>T)
c.2875A>T (p.Thr959Ser)
c.4732A>T (p.Thr1578Ser)
c.4759A>T (p.Thr1587Ser)
c.4645A>T (p.Thr1549Ser)
c.4775A>T (p.Asp1592Val)
n.5005A>T
n.5021A>T
c.2989A>T (p.Thr997Ser)
c.2272A>T (p.Thr758Ser)
11g.68448841C>ACA381617903LRP5c.4619C>A (p.Thr1540Lys)
n.210C>A
c.289C>A
c.*3225C>A (n.*3225C>A)
c.2876C>A (p.Thr959Lys)
c.4733C>A (p.Thr1578Lys)
c.4760C>A (p.Thr1587Lys)
c.4646C>A (p.Thr1549Lys)
c.4776C>A (p.Asp1592Glu)
n.5006C>A
n.5022C>A
c.2990C>A (p.Thr997Lys)
c.2273C>A (p.Thr758Lys)
11g.68448841C=CA1980656655LRP5c.4619C= (p.Thr1540=)
n.210C=
c.289C=
c.*3225C= (n.*3225C=)
c.2876C= (p.Thr959=)
c.4733C= (p.Thr1578=)
c.4760C= (p.Thr1587=)
c.4646C= (p.Thr1549=)
c.4776C= (p.Asp1592=)
n.5006C=
n.5022C=
c.2990C= (p.Thr997=)
c.2273C= (p.Thr758=)
11g.68448841C>GCA381617905LRP5c.4619C>G (p.Thr1540Arg)
n.210C>G
c.289C>G
c.*3225C>G (n.*3225C>G)
c.2876C>G (p.Thr959Arg)
c.4733C>G (p.Thr1578Arg)
c.4760C>G (p.Thr1587Arg)
c.4646C>G (p.Thr1549Arg)
c.4776C>G (p.Asp1592Glu)
n.5006C>G
n.5022C>G
c.2990C>G (p.Thr997Arg)
c.2273C>G (p.Thr758Arg)
11g.68448841C>TCA6150467LRP5c.4619C>T (p.Thr1540Met)
n.210C>T
c.289C>T
c.*3225C>T (n.*3225C>T)
c.2876C>T (p.Thr959Met)
c.4733C>T (p.Thr1578Met)
c.4760C>T (p.Thr1587Met)
c.4646C>T (p.Thr1549Met)
c.4776C>T (p.Asp1592=)
n.5006C>T
n.5022C>T
c.2990C>T (p.Thr997Met)
c.2273C>T (p.Thr758Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448846_68448861dupCA2695214936LRP5c.4624_4639dup (p.Val1547AlafsTer8)
n.215_230dup
c.294_309dup
c.*3230_*3245dup (n.*3230_*3245dup)
c.2881_2896dup (p.Val966AlafsTer8)
c.4738_4753dup (p.Val1585AlafsTer8)
c.4765_4780dup (p.Val1594AlafsTer8)
c.4651_4666dup (p.Val1556AlafsTer8)
c.4781_4796dup (p.Val1600ProfsTer25)
n.5011_5026dup
n.5027_5042dup
c.2995_3010dup (p.Val1004AlafsTer8)
c.2278_2293dup (p.Val765AlafsTer8)
11g.68448842G>ACA6150468LRP5c.4620G>A (p.Thr1540=)
n.211G>A
c.290G>A
c.*3226G>A (n.*3226G>A)
c.2877G>A (p.Thr959=)
c.4734G>A (p.Thr1578=)
c.4761G>A (p.Thr1587=)
c.4647G>A (p.Thr1549=)
c.4777G>A (p.Asp1593Asn)
n.5007G>A
n.5023G>A
c.2991G>A (p.Thr997=)
c.2274G>A (p.Thr758=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448842G>CCA475462516LRP5c.4620G>C (p.Thr1540=)
n.211G>C
c.290G>C
c.*3226G>C (n.*3226G>C)
c.2877G>C (p.Thr959=)
c.4734G>C (p.Thr1578=)
c.4761G>C (p.Thr1587=)
c.4647G>C (p.Thr1549=)
c.4777G>C (p.Asp1593His)
n.5007G>C
n.5023G>C
c.2991G>C (p.Thr997=)
c.2274G>C (p.Thr758=)
11g.68448842G=CA1980656656LRP5c.4620G= (p.Thr1540=)
n.211G=
c.290G=
c.*3226G= (n.*3226G=)
c.2877G= (p.Thr959=)
c.4734G= (p.Thr1578=)
c.4761G= (p.Thr1587=)
c.4647G= (p.Thr1549=)
c.4777G= (p.Asp1593=)
n.5007G=
n.5023G=
c.2991G= (p.Thr997=)
c.2274G= (p.Thr758=)
11g.68448842G>TCA475462517LRP5c.4620G>T (p.Thr1540=)
n.211G>T
c.290G>T
c.*3226G>T (n.*3226G>T)
c.2877G>T (p.Thr959=)
c.4734G>T (p.Thr1578=)
c.4761G>T (p.Thr1587=)
c.4647G>T (p.Thr1549=)
c.4777G>T (p.Asp1593Tyr)
n.5007G>T
n.5023G>T
c.2991G>T (p.Thr997=)
c.2274G>T (p.Thr758=)
 gnomAD v4
11g.68448843A>CCA381617909LRP5c.4621A>C (p.Thr1541Pro)
n.212A>C
c.291A>C
c.*3227A>C (n.*3227A>C)
c.2878A>C (p.Thr960Pro)
c.4735A>C (p.Thr1579Pro)
c.4762A>C (p.Thr1588Pro)
c.4648A>C (p.Thr1550Pro)
c.4778A>C (p.Asp1593Ala)
n.5008A>C
n.5024A>C
c.2992A>C (p.Thr998Pro)
c.2275A>C (p.Thr759Pro)
 gnomAD v4
11g.68448843A>GCA381617910LRP5c.4621A>G (p.Thr1541Ala)
n.212A>G
c.291A>G
c.*3227A>G (n.*3227A>G)
c.2878A>G (p.Thr960Ala)
c.4735A>G (p.Thr1579Ala)
c.4762A>G (p.Thr1588Ala)
c.4648A>G (p.Thr1550Ala)
c.4778A>G (p.Asp1593Gly)
n.5008A>G
n.5024A>G
c.2992A>G (p.Thr998Ala)
c.2275A>G (p.Thr759Ala)
11g.68448843A>TCA381617912LRP5c.4621A>T (p.Thr1541Ser)
n.212A>T
c.291A>T
c.*3227A>T (n.*3227A>T)
c.2878A>T (p.Thr960Ser)
c.4735A>T (p.Thr1579Ser)
c.4762A>T (p.Thr1588Ser)
c.4648A>T (p.Thr1550Ser)
c.4778A>T (p.Asp1593Val)
n.5008A>T
n.5024A>T
c.2992A>T (p.Thr998Ser)
c.2275A>T (p.Thr759Ser)
11g.68448844C>ACA381617914LRP5c.4622C>A (p.Thr1541Lys)
n.213C>A
c.292C>A
c.*3228C>A (n.*3228C>A)
c.2879C>A (p.Thr960Lys)
c.4736C>A (p.Thr1579Lys)
c.4763C>A (p.Thr1588Lys)
c.4649C>A (p.Thr1550Lys)
c.4779C>A (p.Asp1593Glu)
n.5009C>A
n.5025C>A
c.2993C>A (p.Thr998Lys)
c.2276C>A (p.Thr759Lys)
11g.68448844C=CA1980656663LRP5c.4622C= (p.Thr1541=)
n.213C=
c.292C=
c.*3228C= (n.*3228C=)
c.2879C= (p.Thr960=)
c.4736C= (p.Thr1579=)
c.4763C= (p.Thr1588=)
c.4649C= (p.Thr1550=)
c.4779C= (p.Asp1593=)
n.5009C=
n.5025C=
c.2993C= (p.Thr998=)
c.2276C= (p.Thr759=)
11g.68448844C>GCA6150469LRP5c.4622C>G (p.Thr1541Arg)
n.213C>G
c.292C>G
c.*3228C>G (n.*3228C>G)
c.2879C>G (p.Thr960Arg)
c.4736C>G (p.Thr1579Arg)
c.4763C>G (p.Thr1588Arg)
c.4649C>G (p.Thr1550Arg)
c.4779C>G (p.Asp1593Glu)
n.5009C>G
n.5025C>G
c.2993C>G (p.Thr998Arg)
c.2276C>G (p.Thr759Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448844C>TCA6150470LRP5c.4622C>T (p.Thr1541Met)
n.213C>T
c.292C>T
c.*3228C>T (n.*3228C>T)
c.2879C>T (p.Thr960Met)
c.4736C>T (p.Thr1579Met)
c.4763C>T (p.Thr1588Met)
c.4649C>T (p.Thr1550Met)
c.4779C>T (p.Asp1593=)
n.5009C>T
n.5025C>T
c.2993C>T (p.Thr998Met)
c.2276C>T (p.Thr759Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68448845G>ACA6150471LRP5c.4623G>A (p.Thr1541=)
n.214G>A
c.293G>A
c.*3229G>A (n.*3229G>A)
c.2880G>A (p.Thr960=)
c.4737G>A (p.Thr1579=)
c.4764G>A (p.Thr1588=)
c.4650G>A (p.Thr1550=)
c.4780G>A (p.Ala1594Thr)
n.5010G>A
n.5026G>A
c.2994G>A (p.Thr998=)
c.2277G>A (p.Thr759=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68448845G>CCA475462518LRP5c.4623G>C (p.Thr1541=)
n.214G>C
c.293G>C
c.*3229G>C (n.*3229G>C)
c.2880G>C (p.Thr960=)
c.4737G>C (p.Thr1579=)
c.4764G>C (p.Thr1588=)
c.4650G>C (p.Thr1550=)
c.4780G>C (p.Ala1594Pro)
n.5010G>C
n.5026G>C
c.2994G>C (p.Thr998=)
c.2277G>C (p.Thr759=)
11g.68448845G=CA1980656666LRP5c.4623G= (p.Thr1541=)
n.214G=
c.293G=
c.*3229G= (n.*3229G=)
c.2880G= (p.Thr960=)
c.4737G= (p.Thr1579=)
c.4764G= (p.Thr1588=)
c.4650G= (p.Thr1550=)
c.4780G= (p.Ala1594=)
n.5010G=
n.5026G=
c.2994G= (p.Thr998=)
c.2277G= (p.Thr759=)
11g.68448845G>TCA475462519LRP5c.4623G>T (p.Thr1541=)
n.214G>T
c.293G>T
c.*3229G>T (n.*3229G>T)
c.2880G>T (p.Thr960=)
c.4737G>T (p.Thr1579=)
c.4764G>T (p.Thr1588=)
c.4650G>T (p.Thr1550=)
c.4780G>T (p.Ala1594Ser)
n.5010G>T
n.5026G>T
c.2994G>T (p.Thr998=)
c.2277G>T (p.Thr759=)
 gnomAD v4
11g.68448846C>ACA381617918LRP5c.4624C>A (p.Pro1542Thr)
n.215C>A
c.294C>A
c.*3230C>A (n.*3230C>A)
c.2881C>A (p.Pro961Thr)
c.4738C>A (p.Pro1580Thr)
c.4765C>A (p.Pro1589Thr)
c.4651C>A (p.Pro1551Thr)
c.4781C>A (p.Ala1594Asp)
n.5011C>A
n.5027C>A
c.2995C>A (p.Pro999Thr)
c.2278C>A (p.Pro760Thr)
11g.68448846C>GCA381617920LRP5c.4624C>G (p.Pro1542Ala)
n.215C>G
c.294C>G
c.*3230C>G (n.*3230C>G)
c.2881C>G (p.Pro961Ala)
c.4738C>G (p.Pro1580Ala)
c.4765C>G (p.Pro1589Ala)
c.4651C>G (p.Pro1551Ala)
c.4781C>G (p.Ala1594Gly)
n.5011C>G
n.5027C>G
c.2995C>G (p.Pro999Ala)
c.2278C>G (p.Pro760Ala)
11g.68448846C>TCA381617922LRP5c.4624C>T (p.Pro1542Ser)
n.215C>T
c.294C>T
c.*3230C>T (n.*3230C>T)
c.2881C>T (p.Pro961Ser)
c.4738C>T (p.Pro1580Ser)
c.4765C>T (p.Pro1589Ser)
c.4651C>T (p.Pro1551Ser)
c.4781C>T (p.Ala1594Val)
n.5011C>T
n.5027C>T
c.2995C>T (p.Pro999Ser)
c.2278C>T (p.Pro760Ser)
 gnomAD v4
11g.68448847C>ACA381617924LRP5c.4625C>A (p.Pro1542His)
n.216C>A
c.295C>A
c.*3231C>A (n.*3231C>A)
c.2882C>A (p.Pro961His)
c.4739C>A (p.Pro1580His)
c.4766C>A (p.Pro1589His)
c.4652C>A (p.Pro1551His)
c.4782C>A (p.Ala1594=)
n.5012C>A
n.5028C>A
c.2996C>A (p.Pro999His)
c.2279C>A (p.Pro760His)
11g.68448847C>GCA381617925LRP5c.4625C>G (p.Pro1542Arg)
n.216C>G
c.295C>G
c.*3231C>G (n.*3231C>G)
c.2882C>G (p.Pro961Arg)
c.4739C>G (p.Pro1580Arg)
c.4766C>G (p.Pro1589Arg)
c.4652C>G (p.Pro1551Arg)
c.4782C>G (p.Ala1594=)
n.5012C>G
n.5028C>G
c.2996C>G (p.Pro999Arg)
c.2279C>G (p.Pro760Arg)
11g.68448847C>TCA381617928LRP5c.4625C>T (p.Pro1542Leu)
n.216C>T
c.295C>T
c.*3231C>T (n.*3231C>T)
c.2882C>T (p.Pro961Leu)
c.4739C>T (p.Pro1580Leu)
c.4766C>T (p.Pro1589Leu)
c.4652C>T (p.Pro1551Leu)
c.4782C>T (p.Ala1594=)
n.5012C>T
n.5028C>T
c.2996C>T (p.Pro999Leu)
c.2279C>T (p.Pro760Leu)
11g.68448848C>ACA475462520LRP5c.4626C>A (p.Pro1542=)
n.217C>A
c.296C>A
c.*3232C>A (n.*3232C>A)
c.2883C>A (p.Pro961=)
c.4740C>A (p.Pro1580=)
c.4767C>A (p.Pro1589=)
c.4653C>A (p.Pro1551=)
c.4783C>A (p.Leu1595Met)
n.5013C>A
n.5029C>A
c.2997C>A (p.Pro999=)
c.2280C>A (p.Pro760=)
 dbSNP gnomAD v2 gnomAD v4
11g.68448848C=CA1980656667LRP5c.4626C= (p.Pro1542=)
n.217C=
c.296C=
c.*3232C= (n.*3232C=)
c.2883C= (p.Pro961=)
c.4740C= (p.Pro1580=)
c.4767C= (p.Pro1589=)
c.4653C= (p.Pro1551=)
c.4783C= (p.Leu1595=)
n.5013C=
n.5029C=
c.2997C= (p.Pro999=)
c.2280C= (p.Pro760=)
11g.68448848C>GCA475462521LRP5c.4626C>G (p.Pro1542=)
n.217C>G
c.296C>G
c.*3232C>G (n.*3232C>G)
c.2883C>G (p.Pro961=)
c.4740C>G (p.Pro1580=)
c.4767C>G (p.Pro1589=)
c.4653C>G (p.Pro1551=)
c.4783C>G (p.Leu1595Val)
n.5013C>G
n.5029C>G
c.2997C>G (p.Pro999=)
c.2280C>G (p.Pro760=)
11g.68448848C>TCA475462522LRP5c.4626C>T (p.Pro1542=)
n.217C>T
c.296C>T
c.*3232C>T (n.*3232C>T)
c.2883C>T (p.Pro961=)
c.4740C>T (p.Pro1580=)
c.4767C>T (p.Pro1589=)
c.4653C>T (p.Pro1551=)
c.4783C>T (p.Leu1595=)
n.5013C>T
n.5029C>T
c.2997C>T (p.Pro999=)
c.2280C>T (p.Pro760=)
11g.68448849T>ACA381617930LRP5c.4627T>A (p.Cys1543Ser)
n.218T>A
c.297T>A
c.*3233T>A (n.*3233T>A)
c.2884T>A (p.Cys962Ser)
c.4741T>A (p.Cys1581Ser)
c.4768T>A (p.Cys1590Ser)
c.4654T>A (p.Cys1552Ser)
c.4784T>A (p.Leu1595Gln)
n.5014T>A
n.5030T>A
c.2998T>A (p.Cys1000Ser)
c.2281T>A (p.Cys761Ser)
 gnomAD v4
11g.68448849T>CCA381617932LRP5c.4627T>C (p.Cys1543Arg)
n.218T>C
c.297T>C
c.*3233T>C (n.*3233T>C)
c.2884T>C (p.Cys962Arg)
c.4741T>C (p.Cys1581Arg)
c.4768T>C (p.Cys1590Arg)
c.4654T>C (p.Cys1552Arg)
c.4784T>C (p.Leu1595Pro)
n.5014T>C
n.5030T>C
c.2998T>C (p.Cys1000Arg)
c.2281T>C (p.Cys761Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.68448849T>GCA381617933LRP5c.4627T>G (p.Cys1543Gly)
n.218T>G
c.297T>G
c.*3233T>G (n.*3233T>G)
c.2884T>G (p.Cys962Gly)
c.4741T>G (p.Cys1581Gly)
c.4768T>G (p.Cys1590Gly)
c.4654T>G (p.Cys1552Gly)
c.4784T>G (p.Leu1595Arg)
n.5014T>G
n.5030T>G
c.2998T>G (p.Cys1000Gly)
c.2281T>G (p.Cys761Gly)
11g.68448849T=CA1980656669LRP5c.4627T= (p.Cys1543=)
n.218T=
c.297T=
c.*3233T= (n.*3233T=)
c.2884T= (p.Cys962=)
c.4741T= (p.Cys1581=)
c.4768T= (p.Cys1590=)
c.4654T= (p.Cys1552=)
c.4784T= (p.Leu1595=)
n.5014T=
n.5030T=
c.2998T= (p.Cys1000=)
c.2281T= (p.Cys761=)
11g.68448850G>ACA381617936LRP5c.4628G>A (p.Cys1543Tyr)
n.219G>A
c.298G>A
c.*3234G>A (n.*3234G>A)
c.2885G>A (p.Cys962Tyr)
c.4742G>A (p.Cys1581Tyr)
c.4769G>A (p.Cys1590Tyr)
c.4655G>A (p.Cys1552Tyr)
c.4785G>A (p.Leu1595=)
n.5015G>A
n.5031G>A
c.2999G>A (p.Cys1000Tyr)
c.2282G>A (p.Cys761Tyr)
 gnomAD v4
11g.68448850G>CCA381617938LRP5c.4628G>C (p.Cys1543Ser)
n.219G>C
c.298G>C
c.*3234G>C (n.*3234G>C)
c.2885G>C (p.Cys962Ser)
c.4742G>C (p.Cys1581Ser)
c.4769G>C (p.Cys1590Ser)
c.4655G>C (p.Cys1552Ser)
c.4785G>C (p.Leu1595=)
n.5015G>C
n.5031G>C
c.2999G>C (p.Cys1000Ser)
c.2282G>C (p.Cys761Ser)
11g.68448850G>TCA381617939LRP5c.4628G>T (p.Cys1543Phe)
n.219G>T
c.298G>T
c.*3234G>T (n.*3234G>T)
c.2885G>T (p.Cys962Phe)
c.4742G>T (p.Cys1581Phe)
c.4769G>T (p.Cys1590Phe)
c.4655G>T (p.Cys1552Phe)
c.4785G>T (p.Leu1595=)
n.5015G>T
n.5031G>T
c.2999G>T (p.Cys1000Phe)
c.2282G>T (p.Cys761Phe)
11g.68448851C>ACA381617941LRP5c.4629C>A (p.Cys1543Ter)
n.220C>A
c.299C>A
c.*3235C>A (n.*3235C>A)
c.2886C>A (p.Cys962Ter)
c.4743C>A (p.Cys1581Ter)
c.4770C>A (p.Cys1590Ter)
c.4656C>A (p.Cys1552Ter)
c.4786C>A (p.Gln1596Lys)
n.5016C>A
n.5032C>A
c.3000C>A (p.Cys1000Ter)
c.2283C>A (p.Cys761Ter)
11g.68448851C=CA1980656671LRP5c.4629C= (p.Cys1543=)
n.220C=
c.299C=
c.*3235C= (n.*3235C=)
c.2886C= (p.Cys962=)
c.4743C= (p.Cys1581=)
c.4770C= (p.Cys1590=)
c.4656C= (p.Cys1552=)
c.4786C= (p.Gln1596=)
n.5016C=
n.5032C=
c.3000C= (p.Cys1000=)
c.2283C= (p.Cys761=)
11g.68448851C>GCA381617944LRP5c.4629C>G (p.Cys1543Trp)
n.220C>G
c.299C>G
c.*3235C>G (n.*3235C>G)
c.2886C>G (p.Cys962Trp)
c.4743C>G (p.Cys1581Trp)
c.4770C>G (p.Cys1590Trp)
c.4656C>G (p.Cys1552Trp)
c.4786C>G (p.Gln1596Glu)
n.5016C>G
n.5032C>G
c.3000C>G (p.Cys1000Trp)
c.2283C>G (p.Cys761Trp)
11g.68448851C>TCA475462523LRP5c.4629C>T (p.Cys1543=)
n.220C>T
c.299C>T
c.*3235C>T (n.*3235C>T)
c.2886C>T (p.Cys962=)
c.4743C>T (p.Cys1581=)
c.4770C>T (p.Cys1590=)
c.4656C>T (p.Cys1552=)
c.4786C>T (p.Gln1596Ter)
n.5016C>T
n.5032C>T
c.3000C>T (p.Cys1000=)
c.2283C>T (p.Cys761=)
 dbSNP gnomAD v4
11g.68448852A=CA1980656672LRP5c.4630A= (p.Ser1544=)
n.221A=
c.300A=
c.*3236A= (n.*3236A=)
c.2887A= (p.Ser963=)
c.4744A= (p.Ser1582=)
c.4771A= (p.Ser1591=)
c.4657A= (p.Ser1553=)
c.4787A= (p.Gln1596=)
n.5017A=
n.5033A=
c.3001A= (p.Ser1001=)
c.2284A= (p.Ser762=)
11g.68448852A>CCA381617945LRP5c.4630A>C (p.Ser1544Arg)
n.221A>C
c.300A>C
c.*3236A>C (n.*3236A>C)
c.2887A>C (p.Ser963Arg)
c.4744A>C (p.Ser1582Arg)
c.4771A>C (p.Ser1591Arg)
c.4657A>C (p.Ser1553Arg)
c.4787A>C (p.Gln1596Pro)
n.5017A>C
n.5033A>C
c.3001A>C (p.Ser1001Arg)
c.2284A>C (p.Ser762Arg)
 gnomAD v4
11g.68448852A>GCA381617949LRP5c.4630A>G (p.Ser1544Gly)
n.221A>G
c.300A>G
c.*3236A>G (n.*3236A>G)
c.2887A>G (p.Ser963Gly)
c.4744A>G (p.Ser1582Gly)
c.4771A>G (p.Ser1591Gly)
c.4657A>G (p.Ser1553Gly)
c.4787A>G (p.Gln1596Arg)
n.5017A>G
n.5033A>G
c.3001A>G (p.Ser1001Gly)
c.2284A>G (p.Ser762Gly)
 dbSNP gnomAD v2 gnomAD v4
11g.68448852A>TCA381617947LRP5c.4630A>T (p.Ser1544Cys)
n.221A>T
c.300A>T
c.*3236A>T (n.*3236A>T)
c.2887A>T (p.Ser963Cys)
c.4744A>T (p.Ser1582Cys)
c.4771A>T (p.Ser1591Cys)
c.4657A>T (p.Ser1553Cys)
c.4787A>T (p.Gln1596Leu)
n.5017A>T
n.5033A>T
c.3001A>T (p.Ser1001Cys)
c.2284A>T (p.Ser762Cys)
11g.68448853G>ACA381617951LRP5c.4631G>A (p.Ser1544Asn)
n.222G>A
c.301G>A
c.*3237G>A (n.*3237G>A)
c.2888G>A (p.Ser963Asn)
c.4745G>A (p.Ser1582Asn)
c.4772G>A (p.Ser1591Asn)
c.4658G>A (p.Ser1553Asn)
c.4788G>A (p.Gln1596=)
n.5018G>A
n.5034G>A
c.3002G>A (p.Ser1001Asn)
c.2285G>A (p.Ser762Asn)
11g.68448853G>CCA381617953LRP5c.4631G>C (p.Ser1544Thr)
n.222G>C
c.301G>C
c.*3237G>C (n.*3237G>C)
c.2888G>C (p.Ser963Thr)
c.4745G>C (p.Ser1582Thr)
c.4772G>C (p.Ser1591Thr)
c.4658G>C (p.Ser1553Thr)
c.4788G>C (p.Gln1596His)
n.5018G>C
n.5034G>C
c.3002G>C (p.Ser1001Thr)
c.2285G>C (p.Ser762Thr)
11g.68448853G>TCA381617955LRP5c.4631G>T (p.Ser1544Ile)
n.222G>T
c.301G>T
c.*3237G>T (n.*3237G>T)
c.2888G>T (p.Ser963Ile)
c.4745G>T (p.Ser1582Ile)
c.4772G>T (p.Ser1591Ile)
c.4658G>T (p.Ser1553Ile)
c.4788G>T (p.Gln1596His)
n.5018G>T
n.5034G>T
c.3002G>T (p.Ser1001Ile)
c.2285G>T (p.Ser762Ile)
11g.68448854C>ACA381617957LRP5c.4632C>A (p.Ser1544Arg)
n.223C>A
c.302C>A
c.*3238C>A (n.*3238C>A)
c.2889C>A (p.Ser963Arg)
c.4746C>A (p.Ser1582Arg)
c.4773C>A (p.Ser1591Arg)
c.4659C>A (p.Ser1553Arg)
c.4789C>A (p.His1597Asn)
n.5019C>A
n.5035C>A
c.3003C>A (p.Ser1001Arg)
c.2286C>A (p.Ser762Arg)
11g.68448854C>GCA381617959LRP5c.4632C>G (p.Ser1544Arg)
n.223C>G
c.302C>G
c.*3238C>G (n.*3238C>G)
c.2889C>G (p.Ser963Arg)
c.4746C>G (p.Ser1582Arg)
c.4773C>G (p.Ser1591Arg)
c.4659C>G (p.Ser1553Arg)
c.4789C>G (p.His1597Asp)
n.5019C>G
n.5035C>G
c.3003C>G (p.Ser1001Arg)
c.2286C>G (p.Ser762Arg)
11g.68448854C>TCA475462524LRP5c.4632C>T (p.Ser1544=)
n.223C>T
c.302C>T
c.*3238C>T (n.*3238C>T)
c.2889C>T (p.Ser963=)
c.4746C>T (p.Ser1582=)
c.4773C>T (p.Ser1591=)
c.4659C>T (p.Ser1553=)
c.4789C>T (p.His1597Tyr)
n.5019C>T
n.5035C>T
c.3003C>T (p.Ser1001=)
c.2286C>T (p.Ser762=)
 gnomAD v4
11g.68448855A>CCA381617962LRP5c.4633A>C (p.Thr1545Pro)
n.224A>C
c.303A>C
c.*3239A>C (n.*3239A>C)
c.2890A>C (p.Thr964Pro)
c.4747A>C (p.Thr1583Pro)
c.4774A>C (p.Thr1592Pro)
c.4660A>C (p.Thr1554Pro)
c.4790A>C (p.His1597Pro)
n.5020A>C
n.5036A>C
c.3004A>C (p.Thr1002Pro)
c.2287A>C (p.Thr763Pro)
 dbSNP gnomAD v4
11g.68448855A>GCA381617964LRP5c.4633A>G (p.Thr1545Ala)
n.224A>G
c.303A>G
c.*3239A>G (n.*3239A>G)
c.2890A>G (p.Thr964Ala)
c.4747A>G (p.Thr1583Ala)
c.4774A>G (p.Thr1592Ala)
c.4660A>G (p.Thr1554Ala)
c.4790A>G (p.His1597Arg)
n.5020A>G
n.5036A>G
c.3004A>G (p.Thr1002Ala)
c.2287A>G (p.Thr763Ala)
 dbSNP
11g.68448855A>TCA381617966LRP5c.4633A>T (p.Thr1545Ser)
n.224A>T
c.303A>T
c.*3239A>T (n.*3239A>T)
c.2890A>T (p.Thr964Ser)
c.4747A>T (p.Thr1583Ser)
c.4774A>T (p.Thr1592Ser)
c.4660A>T (p.Thr1554Ser)
c.4790A>T (p.His1597Leu)
n.5020A>T
n.5036A>T
c.3004A>T (p.Thr1002Ser)
c.2287A>T (p.Thr763Ser)
11g.68448856C>ACA381617967LRP5c.4634C>A (p.Thr1545Asn)
n.225C>A
c.304C>A
c.*3240C>A (n.*3240C>A)
c.2891C>A (p.Thr964Asn)
c.4748C>A (p.Thr1583Asn)
c.4775C>A (p.Thr1592Asn)
c.4661C>A (p.Thr1554Asn)
c.4791C>A (p.His1597Gln)
n.5021C>A
n.5037C>A
c.3005C>A (p.Thr1002Asn)
c.2288C>A (p.Thr763Asn)
11g.68448856C>GCA381617969LRP5c.4634C>G (p.Thr1545Ser)
n.225C>G
c.304C>G
c.*3240C>G (n.*3240C>G)
c.2891C>G (p.Thr964Ser)
c.4748C>G (p.Thr1583Ser)
c.4775C>G (p.Thr1592Ser)
c.4661C>G (p.Thr1554Ser)
c.4791C>G (p.His1597Gln)
n.5021C>G
n.5037C>G
c.3005C>G (p.Thr1002Ser)
c.2288C>G (p.Thr763Ser)
11g.68448856C>TCA381617970LRP5c.4634C>T (p.Thr1545Ile)
n.225C>T
c.304C>T
c.*3240C>T (n.*3240C>T)
c.2891C>T (p.Thr964Ile)
c.4748C>T (p.Thr1583Ile)
c.4775C>T (p.Thr1592Ile)
c.4661C>T (p.Thr1554Ile)
c.4791C>T (p.His1597=)
n.5021C>T
n.5037C>T
c.3005C>T (p.Thr1002Ile)
c.2288C>T (p.Thr763Ile)
 gnomAD v4
11g.68448857C>ACA475462525LRP5c.4635C>A (p.Thr1545=)
n.226C>A
c.305C>A
c.*3241C>A (n.*3241C>A)
c.2892C>A (p.Thr964=)
c.4749C>A (p.Thr1583=)
c.4776C>A (p.Thr1592=)
c.4662C>A (p.Thr1554=)
c.4792C>A (p.Arg1598=)
n.5022C>A
n.5038C>A
c.3006C>A (p.Thr1002=)
c.2289C>A (p.Thr763=)
 ClinVar
11g.68448857C=CA1980656678LRP5c.4635C= (p.Thr1545=)
n.226C=
c.305C=
c.*3241C= (n.*3241C=)
c.2892C= (p.Thr964=)
c.4749C= (p.Thr1583=)
c.4776C= (p.Thr1592=)
c.4662C= (p.Thr1554=)
c.4792C= (p.Arg1598=)
n.5022C=
n.5038C=
c.3006C= (p.Thr1002=)
c.2289C= (p.Thr763=)
11g.68448857C>GCA475462526LRP5c.4635C>G (p.Thr1545=)
n.226C>G
c.305C>G
c.*3241C>G (n.*3241C>G)
c.2892C>G (p.Thr964=)
c.4749C>G (p.Thr1583=)
c.4776C>G (p.Thr1592=)
c.4662C>G (p.Thr1554=)
c.4792C>G (p.Arg1598Gly)
n.5022C>G
n.5038C>G
c.3006C>G (p.Thr1002=)
c.2289C>G (p.Thr763=)
11g.68448857C>TCA214138LRP5c.4635C>T (p.Thr1545=)
n.226C>T
c.305C>T
c.*3241C>T (n.*3241C>T)
c.2892C>T (p.Thr964=)
c.4749C>T (p.Thr1583=)
c.4776C>T (p.Thr1592=)
c.4662C>T (p.Thr1554=)
c.4792C>T (p.Arg1598Ter)
n.5022C>T
n.5038C>T
c.3006C>T (p.Thr1002=)
c.2289C>T (p.Thr763=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448858G>ACA6150472LRP5c.4636G>A (p.Asp1546Asn)
n.227G>A
c.306G>A
c.*3242G>A (n.*3242G>A)
c.2893G>A (p.Asp965Asn)
c.4750G>A (p.Asp1584Asn)
c.4777G>A (p.Asp1593Asn)
c.4663G>A (p.Asp1555Asn)
c.4793G>A (p.Arg1598Gln)
n.5023G>A
n.5039G>A
c.3007G>A (p.Asp1003Asn)
c.2290G>A (p.Asp764Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448858G>CCA381617974LRP5c.4636G>C (p.Asp1546His)
n.227G>C
c.306G>C
c.*3242G>C (n.*3242G>C)
c.2893G>C (p.Asp965His)
c.4750G>C (p.Asp1584His)
c.4777G>C (p.Asp1593His)
c.4663G>C (p.Asp1555His)
c.4793G>C (p.Arg1598Pro)
n.5023G>C
n.5039G>C
c.3007G>C (p.Asp1003His)
c.2290G>C (p.Asp764His)
11g.68448858G=CA1980656680LRP5c.4636G= (p.Asp1546=)
n.227G=
c.306G=
c.*3242G= (n.*3242G=)
c.2893G= (p.Asp965=)
c.4750G= (p.Asp1584=)
c.4777G= (p.Asp1593=)
c.4663G= (p.Asp1555=)
c.4793G= (p.Arg1598=)
n.5023G=
n.5039G=
c.3007G= (p.Asp1003=)
c.2290G= (p.Asp764=)
11g.68448858G>TCA381617972LRP5c.4636G>T (p.Asp1546Tyr)
n.227G>T
c.306G>T
c.*3242G>T (n.*3242G>T)
c.2893G>T (p.Asp965Tyr)
c.4750G>T (p.Asp1584Tyr)
c.4777G>T (p.Asp1593Tyr)
c.4663G>T (p.Asp1555Tyr)
c.4793G>T (p.Arg1598Leu)
n.5023G>T
n.5039G>T
c.3007G>T (p.Asp1003Tyr)
c.2290G>T (p.Asp764Tyr)
11g.68448859A>CCA381617977LRP5c.4637A>C (p.Asp1546Ala)
n.228A>C
c.307A>C
c.*3243A>C (n.*3243A>C)
c.2894A>C (p.Asp965Ala)
c.4751A>C (p.Asp1584Ala)
c.4778A>C (p.Asp1593Ala)
c.4664A>C (p.Asp1555Ala)
c.4794A>C (p.Arg1598=)
n.5024A>C
n.5040A>C
c.3008A>C (p.Asp1003Ala)
c.2291A>C (p.Asp764Ala)
11g.68448859A>GCA381617978LRP5c.4637A>G (p.Asp1546Gly)
n.228A>G
c.307A>G
c.*3243A>G (n.*3243A>G)
c.2894A>G (p.Asp965Gly)
c.4751A>G (p.Asp1584Gly)
c.4778A>G (p.Asp1593Gly)
c.4664A>G (p.Asp1555Gly)
c.4794A>G (p.Arg1598=)
n.5024A>G
n.5040A>G
c.3008A>G (p.Asp1003Gly)
c.2291A>G (p.Asp764Gly)
11g.68448859A>TCA381617980LRP5c.4637A>T (p.Asp1546Val)
n.228A>T
c.307A>T
c.*3243A>T (n.*3243A>T)
c.2894A>T (p.Asp965Val)
c.4751A>T (p.Asp1584Val)
c.4778A>T (p.Asp1593Val)
c.4664A>T (p.Asp1555Val)
c.4794A>T (p.Arg1598=)
n.5024A>T
n.5040A>T
c.3008A>T (p.Asp1003Val)
c.2291A>T (p.Asp764Val)
11g.68448860C>ACA381617982LRP5c.4638C>A (p.Asp1546Glu)
n.229C>A
c.308C>A
c.*3244C>A (n.*3244C>A)
c.2895C>A (p.Asp965Glu)
c.4752C>A (p.Asp1584Glu)
c.4779C>A (p.Asp1593Glu)
c.4665C>A (p.Asp1555Glu)
c.4795C>A (p.Arg1599Ser)
n.5025C>A
n.5041C>A
c.3009C>A (p.Asp1003Glu)
c.2292C>A (p.Asp764Glu)
11g.68448860C=CA1980656682LRP5c.4638C= (p.Asp1546=)
n.229C=
c.308C=
c.*3244C= (n.*3244C=)
c.2895C= (p.Asp965=)
c.4752C= (p.Asp1584=)
c.4779C= (p.Asp1593=)
c.4665C= (p.Asp1555=)
c.4795C= (p.Arg1599=)
n.5025C=
n.5041C=
c.3009C= (p.Asp1003=)
c.2292C= (p.Asp764=)
11g.68448860C>GCA381617984LRP5c.4638C>G (p.Asp1546Glu)
n.229C>G
c.308C>G
c.*3244C>G (n.*3244C>G)
c.2895C>G (p.Asp965Glu)
c.4752C>G (p.Asp1584Glu)
c.4779C>G (p.Asp1593Glu)
c.4665C>G (p.Asp1555Glu)
c.4795C>G (p.Arg1599Gly)
n.5025C>G
n.5041C>G
c.3009C>G (p.Asp1003Glu)
c.2292C>G (p.Asp764Glu)
11g.68448860C>TCA6150473LRP5c.4638C>T (p.Asp1546=)
n.229C>T
c.308C>T
c.*3244C>T (n.*3244C>T)
c.2895C>T (p.Asp965=)
c.4752C>T (p.Asp1584=)
c.4779C>T (p.Asp1593=)
c.4665C>T (p.Asp1555=)
c.4795C>T (p.Arg1599Cys)
n.5025C>T
n.5041C>T
c.3009C>T (p.Asp1003=)
c.2292C>T (p.Asp764=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448861G>ACA381617986LRP5c.4639G>A (p.Val1547Met)
n.230G>A
c.309G>A
c.*3245G>A (n.*3245G>A)
c.2896G>A (p.Val966Met)
c.4753G>A (p.Val1585Met)
c.4780G>A (p.Val1594Met)
c.4666G>A (p.Val1556Met)
c.4796G>A (p.Arg1599His)
n.5026G>A
n.5042G>A
c.3010G>A (p.Val1004Met)
c.2293G>A (p.Val765Met)
 dbSNP gnomAD v4
11g.68448861G>CCA381617989LRP5c.4639G>C (p.Val1547Leu)
n.230G>C
c.309G>C
c.*3245G>C (n.*3245G>C)
c.2896G>C (p.Val966Leu)
c.4753G>C (p.Val1585Leu)
c.4780G>C (p.Val1594Leu)
c.4666G>C (p.Val1556Leu)
c.4796G>C (p.Arg1599Pro)
n.5026G>C
n.5042G>C
c.3010G>C (p.Val1004Leu)
c.2293G>C (p.Val765Leu)
11g.68448861G=CA1980656685LRP5c.4639G= (p.Val1547=)
n.230G=
c.309G=
c.*3245G= (n.*3245G=)
c.2896G= (p.Val966=)
c.4753G= (p.Val1585=)
c.4780G= (p.Val1594=)
c.4666G= (p.Val1556=)
c.4796G= (p.Arg1599=)
n.5026G=
n.5042G=
c.3010G= (p.Val1004=)
c.2293G= (p.Val765=)
11g.68448861G>TCA381617990LRP5c.4639G>T (p.Val1547Leu)
n.230G>T
c.309G>T
c.*3245G>T (n.*3245G>T)
c.2896G>T (p.Val966Leu)
c.4753G>T (p.Val1585Leu)
c.4780G>T (p.Val1594Leu)
c.4666G>T (p.Val1556Leu)
c.4796G>T (p.Arg1599Leu)
n.5026G>T
n.5042G>T
c.3010G>T (p.Val1004Leu)
c.2293G>T (p.Val765Leu)
11g.68448862T>ACA381617992LRP5c.4640T>A (p.Val1547Glu)
n.231T>A
c.310T>A
c.*3246T>A (n.*3246T>A)
c.2897T>A (p.Val966Glu)
c.4754T>A (p.Val1585Glu)
c.4781T>A (p.Val1594Glu)
c.4667T>A (p.Val1556Glu)
c.4797T>A (p.Arg1599=)
n.5027T>A
n.5043T>A
c.3011T>A (p.Val1004Glu)
c.2294T>A (p.Val765Glu)
11g.68448862T>CCA381617994LRP5c.4640T>C (p.Val1547Ala)
n.231T>C
c.310T>C
c.*3246T>C (n.*3246T>C)
c.2897T>C (p.Val966Ala)
c.4754T>C (p.Val1585Ala)
c.4781T>C (p.Val1594Ala)
c.4667T>C (p.Val1556Ala)
c.4797T>C (p.Arg1599=)
n.5027T>C
n.5043T>C
c.3011T>C (p.Val1004Ala)
c.2294T>C (p.Val765Ala)
 dbSNP gnomAD v3 gnomAD v4
11g.68448862T>GCA381617995LRP5c.4640T>G (p.Val1547Gly)
n.231T>G
c.310T>G
c.*3246T>G (n.*3246T>G)
c.2897T>G (p.Val966Gly)
c.4754T>G (p.Val1585Gly)
c.4781T>G (p.Val1594Gly)
c.4667T>G (p.Val1556Gly)
c.4797T>G (p.Arg1599=)
n.5027T>G
n.5043T>G
c.3011T>G (p.Val1004Gly)
c.2294T>G (p.Val765Gly)
11g.68448862T=CA1980656687LRP5c.4640T= (p.Val1547=)
n.231T=
c.310T=
c.*3246T= (n.*3246T=)
c.2897T= (p.Val966=)
c.4754T= (p.Val1585=)
c.4781T= (p.Val1594=)
c.4667T= (p.Val1556=)
c.4797T= (p.Arg1599=)
n.5027T=
n.5043T=
c.3011T= (p.Val1004=)
c.2294T= (p.Val765=)
11g.68448863G>ACA475462529LRP5c.4641G>A (p.Val1547=)
n.232G>A
c.311G>A
c.*3247G>A (n.*3247G>A)
c.2898G>A (p.Val966=)
c.4755G>A (p.Val1585=)
c.4782G>A (p.Val1594=)
c.4668G>A (p.Val1556=)
c.4798G>A (p.Val1600Met)
n.5028G>A
n.5044G>A
c.3012G>A (p.Val1004=)
c.2295G>A (p.Val765=)
11g.68448863G>CCA475462528LRP5c.4641G>C (p.Val1547=)
n.232G>C
c.311G>C
c.*3247G>C (n.*3247G>C)
c.2898G>C (p.Val966=)
c.4755G>C (p.Val1585=)
c.4782G>C (p.Val1594=)
c.4668G>C (p.Val1556=)
c.4798G>C (p.Val1600Leu)
n.5028G>C
n.5044G>C
c.3012G>C (p.Val1004=)
c.2295G>C (p.Val765=)
11g.68448863G>TCA475462527LRP5c.4641G>T (p.Val1547=)
n.232G>T
c.311G>T
c.*3247G>T (n.*3247G>T)
c.2898G>T (p.Val966=)
c.4755G>T (p.Val1585=)
c.4782G>T (p.Val1594=)
c.4668G>T (p.Val1556=)
c.4798G>T (p.Val1600Leu)
n.5028G>T
n.5044G>T
c.3012G>T (p.Val1004=)
c.2295G>T (p.Val765=)
 dbSNP gnomAD v4 COSMIC
11g.68448864T>ACA381618001LRP5c.4642T>A (p.Cys1548Ser)
n.233T>A
c.312T>A
c.*3248T>A (n.*3248T>A)
c.2899T>A (p.Cys967Ser)
c.4756T>A (p.Cys1586Ser)
c.4783T>A (p.Cys1595Ser)
c.4669T>A (p.Cys1557Ser)
c.4799T>A (p.Val1600Glu)
n.5029T>A
n.5045T>A
c.3013T>A (p.Cys1005Ser)
c.2296T>A (p.Cys766Ser)
11g.68448864T>CCA381617998LRP5c.4642T>C (p.Cys1548Arg)
n.233T>C
c.312T>C
c.*3248T>C (n.*3248T>C)
c.2899T>C (p.Cys967Arg)
c.4756T>C (p.Cys1586Arg)
c.4783T>C (p.Cys1595Arg)
c.4669T>C (p.Cys1557Arg)
c.4799T>C (p.Val1600Ala)
n.5029T>C
n.5045T>C
c.3013T>C (p.Cys1005Arg)
c.2296T>C (p.Cys766Arg)
11g.68448864T>GCA381618000LRP5c.4642T>G (p.Cys1548Gly)
n.233T>G
c.312T>G
c.*3248T>G (n.*3248T>G)
c.2899T>G (p.Cys967Gly)
c.4756T>G (p.Cys1586Gly)
c.4783T>G (p.Cys1595Gly)
c.4669T>G (p.Cys1557Gly)
c.4799T>G (p.Val1600Gly)
n.5029T>G
n.5045T>G
c.3013T>G (p.Cys1005Gly)
c.2296T>G (p.Cys766Gly)
11g.68448865G>ACA381618004LRP5c.4643G>A (p.Cys1548Tyr)
n.234G>A
c.313G>A
c.*3249G>A (n.*3249G>A)
c.2900G>A (p.Cys967Tyr)
c.4757G>A (p.Cys1586Tyr)
c.4784G>A (p.Cys1595Tyr)
c.4670G>A (p.Cys1557Tyr)
c.4800G>A (p.Val1600=)
n.5030G>A
n.5046G>A
c.3014G>A (p.Cys1005Tyr)
c.2297G>A (p.Cys766Tyr)
 dbSNP
11g.68448865G>CCA381618007LRP5c.4643G>C (p.Cys1548Ser)
n.234G>C
c.313G>C
c.*3249G>C (n.*3249G>C)
c.2900G>C (p.Cys967Ser)
c.4757G>C (p.Cys1586Ser)
c.4784G>C (p.Cys1595Ser)
c.4670G>C (p.Cys1557Ser)
c.4800G>C (p.Val1600=)
n.5030G>C
n.5046G>C
c.3014G>C (p.Cys1005Ser)
c.2297G>C (p.Cys766Ser)
 dbSNP gnomAD v2
11g.68448865G=CA1980656693LRP5c.4643G= (p.Cys1548=)
n.234G=
c.313G=
c.*3249G= (n.*3249G=)
c.2900G= (p.Cys967=)
c.4757G= (p.Cys1586=)
c.4784G= (p.Cys1595=)
c.4670G= (p.Cys1557=)
c.4800G= (p.Val1600=)
n.5030G=
n.5046G=
c.3014G= (p.Cys1005=)
c.2297G= (p.Cys766=)
11g.68448865G>TCA6150474LRP5c.4643G>T (p.Cys1548Phe)
n.234G>T
c.313G>T
c.*3249G>T (n.*3249G>T)
c.2900G>T (p.Cys967Phe)
c.4757G>T (p.Cys1586Phe)
c.4784G>T (p.Cys1595Phe)
c.4670G>T (p.Cys1557Phe)
c.4800G>T (p.Val1600=)
n.5030G>T
n.5046G>T
c.3014G>T (p.Cys1005Phe)
c.2297G>T (p.Cys766Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448866T>ACA381618008LRP5c.4644T>A (p.Cys1548Ter)
n.235T>A
c.314T>A
c.*3250T>A (n.*3250T>A)
c.2901T>A (p.Cys967Ter)
c.4758T>A (p.Cys1586Ter)
c.4785T>A (p.Cys1595Ter)
c.4671T>A (p.Cys1557Ter)
c.4801T>A (p.Ter1601Arg)
n.5031T>A
n.5047T>A
c.3015T>A (p.Cys1005Ter)
c.2298T>A (p.Cys766Ter)
11g.68448866T>CCA475462531LRP5c.4644T>C (p.Cys1548=)
n.235T>C
c.314T>C
c.*3250T>C (n.*3250T>C)
c.2901T>C (p.Cys967=)
c.4758T>C (p.Cys1586=)
c.4785T>C (p.Cys1595=)
c.4671T>C (p.Cys1557=)
c.4801T>C (p.Ter1601Arg)
n.5031T>C
n.5047T>C
c.3015T>C (p.Cys1005=)
c.2298T>C (p.Cys766=)
11g.68448866T>GCA381618009LRP5c.4644T>G (p.Cys1548Trp)
n.235T>G
c.314T>G
c.*3250T>G (n.*3250T>G)
c.2901T>G (p.Cys967Trp)
c.4758T>G (p.Cys1586Trp)
c.4785T>G (p.Cys1595Trp)
c.4671T>G (p.Cys1557Trp)
c.4801T>G (p.Ter1601Gly)
n.5031T>G
n.5047T>G
c.3015T>G (p.Cys1005Trp)
c.2298T>G (p.Cys766Trp)
11g.68448867G>ACA381618011LRP5c.4645G>A (p.Asp1549Asn)
n.236G>A
c.315G>A
c.*3251G>A (n.*3251G>A)
c.2902G>A (p.Asp968Asn)
c.4759G>A (p.Asp1587Asn)
c.4786G>A (p.Asp1596Asn)
c.4672G>A (p.Asp1558Asn)
c.4802G>A (p.Ter1601=)
n.5032G>A
n.5048G>A
c.3016G>A (p.Asp1006Asn)
c.2299G>A (p.Asp767Asn)
11g.68448867G>CCA6150475LRP5c.4645G>C (p.Asp1549His)
n.236G>C
c.315G>C
c.*3251G>C (n.*3251G>C)
c.2902G>C (p.Asp968His)
c.4759G>C (p.Asp1587His)
c.4786G>C (p.Asp1596His)
c.4672G>C (p.Asp1558His)
c.4802G>C (p.Ter1601Ser)
n.5032G>C
n.5048G>C
c.3016G>C (p.Asp1006His)
c.2299G>C (p.Asp767His)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68448867G=CA1980656696LRP5c.4645G= (p.Asp1549=)
n.236G=
c.315G=
c.*3251G= (n.*3251G=)
c.2902G= (p.Asp968=)
c.4759G= (p.Asp1587=)
c.4786G= (p.Asp1596=)
c.4672G= (p.Asp1558=)
c.4802G= (p.Ter1601=)
n.5032G=
n.5048G=
c.3016G= (p.Asp1006=)
c.2299G= (p.Asp767=)
11g.68448867G>TCA381618012LRP5c.4645G>T (p.Asp1549Tyr)
n.236G>T
c.315G>T
c.*3251G>T (n.*3251G>T)
c.2902G>T (p.Asp968Tyr)
c.4759G>T (p.Asp1587Tyr)
c.4786G>T (p.Asp1596Tyr)
c.4672G>T (p.Asp1558Tyr)
c.4802G>T (p.Ter1601Leu)
n.5032G>T
n.5048G>T
c.3016G>T (p.Asp1006Tyr)
c.2299G>T (p.Asp767Tyr)
 gnomAD v4
11g.68448868A>CCA381618014LRP5c.4646A>C (p.Asp1549Ala)
n.237A>C
c.316A>C
c.*3252A>C (n.*3252A>C)
c.2903A>C (p.Asp968Ala)
c.4760A>C (p.Asp1587Ala)
c.4787A>C (p.Asp1596Ala)
c.4673A>C (p.Asp1558Ala)
c.4803A>C (p.Ter1601Cys)
n.5033A>C
n.5049A>C
c.3017A>C (p.Asp1006Ala)
c.2300A>C (p.Asp767Ala)
11g.68448868A>GCA381618015LRP5c.4646A>G (p.Asp1549Gly)
n.237A>G
c.316A>G
c.*3252A>G (n.*3252A>G)
c.2903A>G (p.Asp968Gly)
c.4760A>G (p.Asp1587Gly)
c.4787A>G (p.Asp1596Gly)
c.4673A>G (p.Asp1558Gly)
c.4803A>G (p.Ter1601Trp)
n.5033A>G
n.5049A>G
c.3017A>G (p.Asp1006Gly)
c.2300A>G (p.Asp767Gly)
11g.68448868A>TCA381618017LRP5c.4646A>T (p.Asp1549Val)
n.237A>T
c.316A>T
c.*3252A>T (n.*3252A>T)
c.2903A>T (p.Asp968Val)
c.4760A>T (p.Asp1587Val)
c.4787A>T (p.Asp1596Val)
c.4673A>T (p.Asp1558Val)
c.4803A>T (p.Ter1601Cys)
n.5033A>T
n.5049A>T
c.3017A>T (p.Asp1006Val)
c.2300A>T (p.Asp767Val)
11g.68448869C>ACA381618019LRP5c.4647C>A (p.Asp1549Glu)
n.238C>A
c.317C>A
c.*3253C>A (n.*3253C>A)
c.2904C>A (p.Asp968Glu)
c.4761C>A (p.Asp1587Glu)
c.4788C>A (p.Asp1596Glu)
c.4674C>A (p.Asp1558Glu)
c.*1C>A (n.*1C>A)
n.5034C>A
n.5050C>A
c.3018C>A (p.Asp1006Glu)
c.2301C>A (p.Asp767Glu)
11g.68448869C>GCA381618021LRP5c.4647C>G (p.Asp1549Glu)
n.238C>G
c.317C>G
c.*3253C>G (n.*3253C>G)
c.2904C>G (p.Asp968Glu)
c.4761C>G (p.Asp1587Glu)
c.4788C>G (p.Asp1596Glu)
c.4674C>G (p.Asp1558Glu)
c.*1C>G (n.*1C>G)
n.5034C>G
n.5050C>G
c.3018C>G (p.Asp1006Glu)
c.2301C>G (p.Asp767Glu)
11g.68448869C>TCA475462532LRP5c.4647C>T (p.Asp1549=)
n.238C>T
c.317C>T
c.*3253C>T (n.*3253C>T)
c.2904C>T (p.Asp968=)
c.4761C>T (p.Asp1587=)
c.4788C>T (p.Asp1596=)
c.4674C>T (p.Asp1558=)
c.*1C>T (n.*1C>T)
n.5034C>T
n.5050C>T
c.3018C>T (p.Asp1006=)
c.2301C>T (p.Asp767=)
11g.68448870A>CCA381618023LRP5c.4648A>C (p.Ser1550Arg)
n.239A>C
c.318A>C
c.*3254A>C (n.*3254A>C)
c.2905A>C (p.Ser969Arg)
c.4762A>C (p.Ser1588Arg)
c.4789A>C (p.Ser1597Arg)
c.4675A>C (p.Ser1559Arg)
c.*2A>C (n.*2A>C)
n.5035A>C
n.5051A>C
c.3019A>C (p.Ser1007Arg)
c.2302A>C (p.Ser768Arg)
11g.68448870A>GCA381618026LRP5c.4648A>G (p.Ser1550Gly)
n.239A>G
c.318A>G
c.*3254A>G (n.*3254A>G)
c.2905A>G (p.Ser969Gly)
c.4762A>G (p.Ser1588Gly)
c.4789A>G (p.Ser1597Gly)
c.4675A>G (p.Ser1559Gly)
c.*2A>G (n.*2A>G)
n.5035A>G
n.5051A>G
c.3019A>G (p.Ser1007Gly)
c.2302A>G (p.Ser768Gly)
 gnomAD v4
11g.68448870A>TCA381618029LRP5c.4648A>T (p.Ser1550Cys)
n.239A>T
c.318A>T
c.*3254A>T (n.*3254A>T)
c.2905A>T (p.Ser969Cys)
c.4762A>T (p.Ser1588Cys)
c.4789A>T (p.Ser1597Cys)
c.4675A>T (p.Ser1559Cys)
c.*2A>T (n.*2A>T)
n.5035A>T
n.5051A>T
c.3019A>T (p.Ser1007Cys)
c.2302A>T (p.Ser768Cys)
11g.68448871G>ACA381618037LRP5c.4649G>A (p.Ser1550Asn)
n.240G>A
c.319G>A
c.*3255G>A (n.*3255G>A)
c.2906G>A (p.Ser969Asn)
c.4763G>A (p.Ser1588Asn)
c.4790G>A (p.Ser1597Asn)
c.4676G>A (p.Ser1559Asn)
c.*3G>A (n.*3G>A)
n.5036G>A
n.5052G>A
c.3020G>A (p.Ser1007Asn)
c.2303G>A (p.Ser768Asn)
 COSMIC
11g.68448871G>CCA381618032LRP5c.4649G>C (p.Ser1550Thr)
n.240G>C
c.319G>C
c.*3255G>C (n.*3255G>C)
c.2906G>C (p.Ser969Thr)
c.4763G>C (p.Ser1588Thr)
c.4790G>C (p.Ser1597Thr)
c.4676G>C (p.Ser1559Thr)
c.*3G>C (n.*3G>C)
n.5036G>C
n.5052G>C
c.3020G>C (p.Ser1007Thr)
c.2303G>C (p.Ser768Thr)
11g.68448871G>TCA381618035LRP5c.4649G>T (p.Ser1550Ile)
n.240G>T
c.319G>T
c.*3255G>T (n.*3255G>T)
c.2906G>T (p.Ser969Ile)
c.4763G>T (p.Ser1588Ile)
c.4790G>T (p.Ser1597Ile)
c.4676G>T (p.Ser1559Ile)
c.*3G>T (n.*3G>T)
n.5036G>T
n.5052G>T
c.3020G>T (p.Ser1007Ile)
c.2303G>T (p.Ser768Ile)
11g.68448872C>ACA381618040LRP5c.4650C>A (p.Ser1550Arg)
n.241C>A
c.320C>A
c.*3256C>A (n.*3256C>A)
c.2907C>A (p.Ser969Arg)
c.4764C>A (p.Ser1588Arg)
c.4791C>A (p.Ser1597Arg)
c.4677C>A (p.Ser1559Arg)
c.*4C>A (n.*4C>A)
n.5037C>A
n.5053C>A
c.3021C>A (p.Ser1007Arg)
c.2304C>A (p.Ser768Arg)
11g.68448872C=CA1980656699LRP5c.4650C= (p.Ser1550=)
n.241C=
c.320C=
c.*3256C= (n.*3256C=)
c.2907C= (p.Ser969=)
c.4764C= (p.Ser1588=)
c.4791C= (p.Ser1597=)
c.4677C= (p.Ser1559=)
c.*4C= (n.*4C=)
n.5037C=
n.5053C=
c.3021C= (p.Ser1007=)
c.2304C= (p.Ser768=)
11g.68448872C>GCA381618042LRP5c.4650C>G (p.Ser1550Arg)
n.241C>G
c.320C>G
c.*3256C>G (n.*3256C>G)
c.2907C>G (p.Ser969Arg)
c.4764C>G (p.Ser1588Arg)
c.4791C>G (p.Ser1597Arg)
c.4677C>G (p.Ser1559Arg)
c.*4C>G (n.*4C>G)
n.5037C>G
n.5053C>G
c.3021C>G (p.Ser1007Arg)
c.2304C>G (p.Ser768Arg)
 gnomAD v4
11g.68448872C>TCA6150476LRP5c.4650C>T (p.Ser1550=)
n.241C>T
c.320C>T
c.*3256C>T (n.*3256C>T)
c.2907C>T (p.Ser969=)
c.4764C>T (p.Ser1588=)
c.4791C>T (p.Ser1597=)
c.4677C>T (p.Ser1559=)
c.*4C>T (n.*4C>T)
n.5037C>T
n.5053C>T
c.3021C>T (p.Ser1007=)
c.2304C>T (p.Ser768=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68448873G>ACA210911LRP5c.4651G>A (p.Asp1551Asn)
n.242G>A
c.321G>A
c.*3257G>A (n.*3257G>A)
c.2908G>A (p.Asp970Asn)
c.4765G>A (p.Asp1589Asn)
c.4792G>A (p.Asp1598Asn)
c.4678G>A (p.Asp1560Asn)
c.*5G>A (n.*5G>A)
n.5038G>A
n.5054G>A
c.3022G>A (p.Asp1008Asn)
c.2305G>A (p.Asp769Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68448873G>CCA381618045LRP5c.4651G>C (p.Asp1551His)
n.242G>C
c.321G>C
c.*3257G>C (n.*3257G>C)
c.2908G>C (p.Asp970His)
c.4765G>C (p.Asp1589His)
c.4792G>C (p.Asp1598His)
c.4678G>C (p.Asp1560His)
c.*5G>C (n.*5G>C)
n.5038G>C
n.5054G>C
c.3022G>C (p.Asp1008His)
c.2305G>C (p.Asp769His)
11g.68448873G=CA1980656703LRP5c.4651G= (p.Asp1551=)
n.242G=
c.321G=
c.*3257G= (n.*3257G=)
c.2908G= (p.Asp970=)
c.4765G= (p.Asp1589=)
c.4792G= (p.Asp1598=)
c.4678G= (p.Asp1560=)
c.*5G= (n.*5G=)
n.5038G=
n.5054G=
c.3022G= (p.Asp1008=)
c.2305G= (p.Asp769=)
11g.68448873G>TCA381618050LRP5c.4651G>T (p.Asp1551Tyr)
n.242G>T
c.321G>T
c.*3257G>T (n.*3257G>T)
c.2908G>T (p.Asp970Tyr)
c.4765G>T (p.Asp1589Tyr)
c.4792G>T (p.Asp1598Tyr)
c.4678G>T (p.Asp1560Tyr)
c.*5G>T (n.*5G>T)
n.5038G>T
n.5054G>T
c.3022G>T (p.Asp1008Tyr)
c.2305G>T (p.Asp769Tyr)
 dbSNP gnomAD v2
11g.68448874A>CCA381618053LRP5c.4652A>C (p.Asp1551Ala)
n.243A>C
c.322A>C
c.*3258A>C (n.*3258A>C)
c.2909A>C (p.Asp970Ala)
c.4766A>C (p.Asp1589Ala)
c.4793A>C (p.Asp1598Ala)
c.4679A>C (p.Asp1560Ala)
c.*6A>C (n.*6A>C)
n.5039A>C
n.5055A>C
c.3023A>C (p.Asp1008Ala)
c.2306A>C (p.Asp769Ala)
11g.68448874A>GCA381618056LRP5c.4652A>G (p.Asp1551Gly)
n.243A>G
c.322A>G
c.*3258A>G (n.*3258A>G)
c.2909A>G (p.Asp970Gly)
c.4766A>G (p.Asp1589Gly)
c.4793A>G (p.Asp1598Gly)
c.4679A>G (p.Asp1560Gly)
c.*6A>G (n.*6A>G)
n.5039A>G
n.5055A>G
c.3023A>G (p.Asp1008Gly)
c.2306A>G (p.Asp769Gly)
11g.68448874A>TCA381618059LRP5c.4652A>T (p.Asp1551Val)
n.243A>T
c.322A>T
c.*3258A>T (n.*3258A>T)
c.2909A>T (p.Asp970Val)
c.4766A>T (p.Asp1589Val)
c.4793A>T (p.Asp1598Val)
c.4679A>T (p.Asp1560Val)
c.*6A>T (n.*6A>T)
n.5039A>T
n.5055A>T
c.3023A>T (p.Asp1008Val)
c.2306A>T (p.Asp769Val)
 COSMIC
11g.68448874_68448883delCA2497030054LRP5c.4652_4661del (p.Asp1551AlafsTer13)
n.243_252del
c.322_331del
c.*3258_*3267del (n.*3258_*3267del)
c.2909_2918del (p.Asp970AlafsTer13)
c.4766_4775del (p.Asp1589AlafsTer13)
c.4793_4802del (p.Asp1598AlafsTer13)
c.4679_4688del (p.Asp1560AlafsTer13)
c.*6_*15del (n.*6_*15del)
n.5039_5048del
n.5055_5064del
c.3023_3032del (p.Asp1008AlafsTer13)
c.2306_2315del (p.Asp769AlafsTer13)
11g.68448875C>ACA381618062LRP5c.4653C>A (p.Asp1551Glu)
n.244C>A
c.323C>A
c.*3259C>A (n.*3259C>A)
c.2910C>A (p.Asp970Glu)
c.4767C>A (p.Asp1589Glu)
c.4794C>A (p.Asp1598Glu)
c.4680C>A (p.Asp1560Glu)
c.*7C>A (n.*7C>A)
n.5040C>A
n.5056C>A
c.3024C>A (p.Asp1008Glu)
c.2307C>A (p.Asp769Glu)
11g.68448875C>GCA381618064LRP5c.4653C>G (p.Asp1551Glu)
n.244C>G
c.323C>G
c.*3259C>G (n.*3259C>G)
c.2910C>G (p.Asp970Glu)
c.4767C>G (p.Asp1589Glu)
c.4794C>G (p.Asp1598Glu)
c.4680C>G (p.Asp1560Glu)
c.*7C>G (n.*7C>G)
n.5040C>G
n.5056C>G
c.3024C>G (p.Asp1008Glu)
c.2307C>G (p.Asp769Glu)
11g.68448875C>TCA475462543LRP5c.4653C>T (p.Asp1551=)
n.244C>T
c.323C>T
c.*3259C>T (n.*3259C>T)
c.2910C>T (p.Asp970=)
c.4767C>T (p.Asp1589=)
c.4794C>T (p.Asp1598=)
c.4680C>T (p.Asp1560=)
c.*7C>T (n.*7C>T)
n.5040C>T
n.5056C>T
c.3024C>T (p.Asp1008=)
c.2307C>T (p.Asp769=)
11g.68448876T>ACA381618072LRP5c.4654T>A (p.Tyr1552Asn)
n.245T>A
c.324T>A
c.*3260T>A (n.*3260T>A)
c.2911T>A (p.Tyr971Asn)
c.4768T>A (p.Tyr1590Asn)
c.4795T>A (p.Tyr1599Asn)
c.4681T>A (p.Tyr1561Asn)
c.*8T>A (n.*8T>A)
n.5041T>A
n.5057T>A
c.3025T>A (p.Tyr1009Asn)
c.2308T>A (p.Tyr770Asn)
11g.68448876T>CCA381618075LRP5c.4654T>C (p.Tyr1552His)
n.245T>C
c.324T>C
c.*3260T>C (n.*3260T>C)
c.2911T>C (p.Tyr971His)
c.4768T>C (p.Tyr1590His)
c.4795T>C (p.Tyr1599His)
c.4681T>C (p.Tyr1561His)
c.*8T>C (n.*8T>C)
n.5041T>C
n.5057T>C
c.3025T>C (p.Tyr1009His)
c.2308T>C (p.Tyr770His)
11g.68448876T>GCA381618069LRP5c.4654T>G (p.Tyr1552Asp)
n.245T>G
c.324T>G
c.*3260T>G (n.*3260T>G)
c.2911T>G (p.Tyr971Asp)
c.4768T>G (p.Tyr1590Asp)
c.4795T>G (p.Tyr1599Asp)
c.4681T>G (p.Tyr1561Asp)
c.*8T>G (n.*8T>G)
n.5041T>G
n.5057T>G
c.3025T>G (p.Tyr1009Asp)
c.2308T>G (p.Tyr770Asp)
 gnomAD v4
11g.68448877A>CCA381618078LRP5c.4655A>C (p.Tyr1552Ser)
n.246A>C
c.325A>C
c.*3261A>C (n.*3261A>C)
c.2912A>C (p.Tyr971Ser)
c.4769A>C (p.Tyr1590Ser)
c.4796A>C (p.Tyr1599Ser)
c.4682A>C (p.Tyr1561Ser)
c.*9A>C (n.*9A>C)
n.5042A>C
n.5058A>C
c.3026A>C (p.Tyr1009Ser)
c.2309A>C (p.Tyr770Ser)
11g.68448877A>GCA381618081LRP5c.4655A>G (p.Tyr1552Cys)
n.246A>G
c.325A>G
c.*3261A>G (n.*3261A>G)
c.2912A>G (p.Tyr971Cys)
c.4769A>G (p.Tyr1590Cys)
c.4796A>G (p.Tyr1599Cys)
c.4682A>G (p.Tyr1561Cys)
c.*9A>G (n.*9A>G)
n.5042A>G
n.5058A>G
c.3026A>G (p.Tyr1009Cys)
c.2309A>G (p.Tyr770Cys)
11g.68448877A>TCA381618083LRP5c.4655A>T (p.Tyr1552Phe)
n.246A>T
c.325A>T
c.*3261A>T (n.*3261A>T)
c.2912A>T (p.Tyr971Phe)
c.4769A>T (p.Tyr1590Phe)
c.4796A>T (p.Tyr1599Phe)
c.4682A>T (p.Tyr1561Phe)
c.*9A>T (n.*9A>T)
n.5042A>T
n.5058A>T
c.3026A>T (p.Tyr1009Phe)
c.2309A>T (p.Tyr770Phe)
11g.68448878C>ACA381618086LRP5c.4656C>A (p.Tyr1552Ter)
n.247C>A
c.326C>A
c.*3262C>A (n.*3262C>A)
c.2913C>A (p.Tyr971Ter)
c.4770C>A (p.Tyr1590Ter)
c.4797C>A (p.Tyr1599Ter)
c.4683C>A (p.Tyr1561Ter)
c.*10C>A (n.*10C>A)
n.5043C>A
n.5059C>A
c.3027C>A (p.Tyr1009Ter)
c.2310C>A (p.Tyr770Ter)
11g.68448878C>GCA381618088LRP5c.4656C>G (p.Tyr1552Ter)
n.247C>G
c.326C>G
c.*3262C>G (n.*3262C>G)
c.2913C>G (p.Tyr971Ter)
c.4770C>G (p.Tyr1590Ter)
c.4797C>G (p.Tyr1599Ter)
c.4683C>G (p.Tyr1561Ter)
c.*10C>G (n.*10C>G)
n.5043C>G
n.5059C>G
c.3027C>G (p.Tyr1009Ter)
c.2310C>G (p.Tyr770Ter)
11g.68448878C>TCA475462548LRP5c.4656C>T (p.Tyr1552=)
n.247C>T
c.326C>T
c.*3262C>T (n.*3262C>T)
c.2913C>T (p.Tyr971=)
c.4770C>T (p.Tyr1590=)
c.4797C>T (p.Tyr1599=)
c.4683C>T (p.Tyr1561=)
c.*10C>T (n.*10C>T)
n.5043C>T
n.5059C>T
c.3027C>T (p.Tyr1009=)
c.2310C>T (p.Tyr770=)
11g.68448879A>CCA381618091LRP5c.4657A>C (p.Ser1553Arg)
n.248A>C
c.327A>C
c.*3263A>C (n.*3263A>C)
c.2914A>C (p.Ser972Arg)
c.4771A>C (p.Ser1591Arg)
c.4798A>C (p.Ser1600Arg)
c.4684A>C (p.Ser1562Arg)
c.*11A>C (n.*11A>C)
n.5044A>C
n.5060A>C
c.3028A>C (p.Ser1010Arg)
c.2311A>C (p.Ser771Arg)
11g.68448879A>GCA381618092LRP5c.4657A>G (p.Ser1553Gly)
n.248A>G
c.327A>G
c.*3263A>G (n.*3263A>G)
c.2914A>G (p.Ser972Gly)
c.4771A>G (p.Ser1591Gly)
c.4798A>G (p.Ser1600Gly)
c.4684A>G (p.Ser1562Gly)
c.*11A>G (n.*11A>G)
n.5044A>G
n.5060A>G
c.3028A>G (p.Ser1010Gly)
c.2311A>G (p.Ser771Gly)
 gnomAD v4
11g.68448879A>TCA381618093LRP5c.4657A>T (p.Ser1553Cys)
n.248A>T
c.327A>T
c.*3263A>T (n.*3263A>T)
c.2914A>T (p.Ser972Cys)
c.4771A>T (p.Ser1591Cys)
c.4798A>T (p.Ser1600Cys)
c.4684A>T (p.Ser1562Cys)
c.*11A>T (n.*11A>T)
n.5044A>T
n.5060A>T
c.3028A>T (p.Ser1010Cys)
c.2311A>T (p.Ser771Cys)
11g.68448880G>ACA381618095LRP5c.4658G>A (p.Ser1553Asn)
n.249G>A
c.328G>A
c.*3264G>A (n.*3264G>A)
c.2915G>A (p.Ser972Asn)
c.4772G>A (p.Ser1591Asn)
c.4799G>A (p.Ser1600Asn)
c.4685G>A (p.Ser1562Asn)
c.*12G>A (n.*12G>A)
n.5045G>A
n.5061G>A
c.3029G>A (p.Ser1010Asn)
c.2312G>A (p.Ser771Asn)
11g.68448880G>CCA381618097LRP5c.4658G>C (p.Ser1553Thr)
n.249G>C
c.328G>C
c.*3264G>C (n.*3264G>C)
c.2915G>C (p.Ser972Thr)
c.4772G>C (p.Ser1591Thr)
c.4799G>C (p.Ser1600Thr)
c.4685G>C (p.Ser1562Thr)
c.*12G>C (n.*12G>C)
n.5045G>C
n.5061G>C
c.3029G>C (p.Ser1010Thr)
c.2312G>C (p.Ser771Thr)
11g.68448880G=CA1980656706LRP5c.4658G= (p.Ser1553=)
n.249G=
c.328G=
c.*3264G= (n.*3264G=)
c.2915G= (p.Ser972=)
c.4772G= (p.Ser1591=)
c.4799G= (p.Ser1600=)
c.4685G= (p.Ser1562=)
c.*12G= (n.*12G=)
n.5045G=
n.5061G=
c.3029G= (p.Ser1010=)
c.2312G= (p.Ser771=)
11g.68448880G>TCA381618098LRP5c.4658G>T (p.Ser1553Ile)
n.249G>T
c.328G>T
c.*3264G>T (n.*3264G>T)
c.2915G>T (p.Ser972Ile)
c.4772G>T (p.Ser1591Ile)
c.4799G>T (p.Ser1600Ile)
c.4685G>T (p.Ser1562Ile)
c.*12G>T (n.*12G>T)
n.5045G>T
n.5061G>T
c.3029G>T (p.Ser1010Ile)
c.2312G>T (p.Ser771Ile)
 ClinVar dbSNP gnomAD v4
11g.68448881C>ACA381618101LRP5c.4659C>A (p.Ser1553Arg)
n.250C>A
c.329C>A
c.*3265C>A (n.*3265C>A)
c.2916C>A (p.Ser972Arg)
c.4773C>A (p.Ser1591Arg)
c.4800C>A (p.Ser1600Arg)
c.4686C>A (p.Ser1562Arg)
c.*13C>A (n.*13C>A)
n.5046C>A
n.5062C>A
c.3030C>A (p.Ser1010Arg)
c.2313C>A (p.Ser771Arg)
11g.68448881C=CA1980656708LRP5c.4659C= (p.Ser1553=)
n.250C=
c.329C=
c.*3265C= (n.*3265C=)
c.2916C= (p.Ser972=)
c.4773C= (p.Ser1591=)
c.4800C= (p.Ser1600=)
c.4686C= (p.Ser1562=)
c.*13C= (n.*13C=)
n.5046C=
n.5062C=
c.3030C= (p.Ser1010=)
c.2313C= (p.Ser771=)
11g.68448881C>GCA224260723LRP5c.4659C>G (p.Ser1553Arg)
n.250C>G
c.329C>G
c.*3265C>G (n.*3265C>G)
c.2916C>G (p.Ser972Arg)
c.4773C>G (p.Ser1591Arg)
c.4800C>G (p.Ser1600Arg)
c.4686C>G (p.Ser1562Arg)
c.*13C>G (n.*13C>G)
n.5046C>G
n.5062C>G
c.3030C>G (p.Ser1010Arg)
c.2313C>G (p.Ser771Arg)
 dbSNP
11g.68448881C>TCA6150477LRP5c.4659C>T (p.Ser1553=)
n.250C>T
c.329C>T
c.*3265C>T (n.*3265C>T)
c.2916C>T (p.Ser972=)
c.4773C>T (p.Ser1591=)
c.4800C>T (p.Ser1600=)
c.4686C>T (p.Ser1562=)
c.*13C>T (n.*13C>T)
n.5046C>T
n.5062C>T
c.3030C>T (p.Ser1010=)
c.2313C>T (p.Ser771=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68448882G>ACA6150478LRP5c.4660G>A (p.Ala1554Thr)
n.251G>A
c.330G>A
c.*3266G>A (n.*3266G>A)
c.2917G>A (p.Ala973Thr)
c.4774G>A (p.Ala1592Thr)
c.4801G>A (p.Ala1601Thr)
c.4687G>A (p.Ala1563Thr)
c.*14G>A (n.*14G>A)
n.5047G>A
n.5063G>A
c.3031G>A (p.Ala1011Thr)
c.2314G>A (p.Ala772Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68448882G>CCA6150479LRP5c.4660G>C (p.Ala1554Pro)
n.251G>C
c.330G>C
c.*3266G>C (n.*3266G>C)
c.2917G>C (p.Ala973Pro)
c.4774G>C (p.Ala1592Pro)
c.4801G>C (p.Ala1601Pro)
c.4687G>C (p.Ala1563Pro)
c.*14G>C (n.*14G>C)
n.5047G>C
n.5063G>C
c.3031G>C (p.Ala1011Pro)
c.2314G>C (p.Ala772Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.68448882G=CA1980656710LRP5c.4660G= (p.Ala1554=)
n.251G=
c.330G=
c.*3266G= (n.*3266G=)
c.2917G= (p.Ala973=)
c.4774G= (p.Ala1592=)
c.4801G= (p.Ala1601=)
c.4687G= (p.Ala1563=)
c.*14G= (n.*14G=)
n.5047G=
n.5063G=
c.3031G= (p.Ala1011=)
c.2314G= (p.Ala772=)
11g.68448882G>TCA381618105LRP5c.4660G>T (p.Ala1554Ser)
n.251G>T
c.330G>T
c.*3266G>T (n.*3266G>T)
c.2917G>T (p.Ala973Ser)
c.4774G>T (p.Ala1592Ser)
c.4801G>T (p.Ala1601Ser)
c.4687G>T (p.Ala1563Ser)
c.*14G>T (n.*14G>T)
n.5047G>T
n.5063G>T
c.3031G>T (p.Ala1011Ser)
c.2314G>T (p.Ala772Ser)
11g.68448883C>ACA381618108LRP5c.4661C>A (p.Ala1554Asp)
n.252C>A
c.331C>A
c.*3267C>A (n.*3267C>A)
c.2918C>A (p.Ala973Asp)
c.4775C>A (p.Ala1592Asp)
c.4802C>A (p.Ala1601Asp)
c.4688C>A (p.Ala1563Asp)
c.*15C>A (n.*15C>A)
n.5048C>A
n.5064C>A
c.3032C>A (p.Ala1011Asp)
c.2315C>A (p.Ala772Asp)
11g.68448883C>GCA381618109LRP5c.4661C>G (p.Ala1554Gly)
n.252C>G
c.331C>G
c.*3267C>G (n.*3267C>G)
c.2918C>G (p.Ala973Gly)
c.4775C>G (p.Ala1592Gly)
c.4802C>G (p.Ala1601Gly)
c.4688C>G (p.Ala1563Gly)
c.*15C>G (n.*15C>G)
n.5048C>G
n.5064C>G
c.3032C>G (p.Ala1011Gly)
c.2315C>G (p.Ala772Gly)
11g.68448883C>TCA381618112LRP5c.4661C>T (p.Ala1554Val)
n.252C>T
c.331C>T
c.*3267C>T (n.*3267C>T)
c.2918C>T (p.Ala973Val)
c.4775C>T (p.Ala1592Val)
c.4802C>T (p.Ala1601Val)
c.4688C>T (p.Ala1563Val)
c.*15C>T (n.*15C>T)
n.5048C>T
n.5064C>T
c.3032C>T (p.Ala1011Val)
c.2315C>T (p.Ala772Val)
11g.68448883_68448884dupCA1980656711LRP5c.4661_4662dup (p.Ser1555ProfsTer13)
n.252_253dup
c.331_332dup
c.*3267_*3268dup (n.*3267_*3268dup)
c.2918_2919dup (p.Ser974ProfsTer13)
c.4775_4776dup (p.Ser1593ProfsTer13)
c.4802_4803dup (p.Ser1602ProfsTer13)
c.4688_4689dup (p.Ser1564ProfsTer13)
c.*15_*16dup (n.*15_*16dup)
n.5048_5049dup
n.5064_5065dup
c.3032_3033dup (p.Ser1012ProfsTer13)
c.2315_2316dup (p.Ser773ProfsTer13)
 dbSNP
11g.68448884C>ACA475462564LRP5c.4662C>A (p.Ala1554=)
n.253C>A
c.332C>A
c.*3268C>A (n.*3268C>A)
c.2919C>A (p.Ala973=)
c.4776C>A (p.Ala1592=)
c.4803C>A (p.Ala1601=)
c.4689C>A (p.Ala1563=)
c.*16C>A (n.*16C>A)
n.5049C>A
n.5065C>A
c.3033C>A (p.Ala1011=)
c.2316C>A (p.Ala772=)
11g.68448884C>GCA475462563LRP5c.4662C>G (p.Ala1554=)
n.253C>G
c.332C>G
c.*3268C>G (n.*3268C>G)
c.2919C>G (p.Ala973=)
c.4776C>G (p.Ala1592=)
c.4803C>G (p.Ala1601=)
c.4689C>G (p.Ala1563=)
c.*16C>G (n.*16C>G)
n.5049C>G
n.5065C>G
c.3033C>G (p.Ala1011=)
c.2316C>G (p.Ala772=)
11g.68448884C>TCA475462561LRP5c.4662C>T (p.Ala1554=)
n.253C>T
c.332C>T
c.*3268C>T (n.*3268C>T)
c.2919C>T (p.Ala973=)
c.4776C>T (p.Ala1592=)
c.4803C>T (p.Ala1601=)
c.4689C>T (p.Ala1563=)
c.*16C>T (n.*16C>T)
n.5049C>T
n.5065C>T
c.3033C>T (p.Ala1011=)
c.2316C>T (p.Ala772=)
11g.68448885A>CCA381618114LRP5c.4663A>C (p.Ser1555Arg)
n.254A>C
c.333A>C
c.*3269A>C (n.*3269A>C)
c.2920A>C (p.Ser974Arg)
c.4777A>C (p.Ser1593Arg)
c.4804A>C (p.Ser1602Arg)
c.4690A>C (p.Ser1564Arg)
c.*17A>C (n.*17A>C)
n.5050A>C
n.5066A>C
c.3034A>C (p.Ser1012Arg)
c.2317A>C (p.Ser773Arg)
11g.68448885A>GCA381618118LRP5c.4663A>G (p.Ser1555Gly)
n.254A>G
c.333A>G
c.*3269A>G (n.*3269A>G)
c.2920A>G (p.Ser974Gly)
c.4777A>G (p.Ser1593Gly)
c.4804A>G (p.Ser1602Gly)
c.4690A>G (p.Ser1564Gly)
c.*17A>G (n.*17A>G)
n.5050A>G
n.5066A>G
c.3034A>G (p.Ser1012Gly)
c.2317A>G (p.Ser773Gly)
11g.68448885A>TCA381618115LRP5c.4663A>T (p.Ser1555Cys)
n.254A>T
c.333A>T
c.*3269A>T (n.*3269A>T)
c.2920A>T (p.Ser974Cys)
c.4777A>T (p.Ser1593Cys)
c.4804A>T (p.Ser1602Cys)
c.4690A>T (p.Ser1564Cys)
c.*17A>T (n.*17A>T)
n.5050A>T
n.5066A>T
c.3034A>T (p.Ser1012Cys)
c.2317A>T (p.Ser773Cys)
11g.68448886G>ACA381618120LRP5c.4664G>A (p.Ser1555Asn)
n.255G>A
c.334G>A
c.*3270G>A (n.*3270G>A)
c.2921G>A (p.Ser974Asn)
c.4778G>A (p.Ser1593Asn)
c.4805G>A (p.Ser1602Asn)
c.4691G>A (p.Ser1564Asn)
c.*18G>A (n.*18G>A)
n.5051G>A
n.5067G>A
c.3035G>A (p.Ser1012Asn)
c.2318G>A (p.Ser773Asn)
11g.68448886G>CCA381618122LRP5c.4664G>C (p.Ser1555Thr)
n.255G>C
c.334G>C
c.*3270G>C (n.*3270G>C)
c.2921G>C (p.Ser974Thr)
c.4778G>C (p.Ser1593Thr)
c.4805G>C (p.Ser1602Thr)
c.4691G>C (p.Ser1564Thr)
c.*18G>C (n.*18G>C)
n.5051G>C
n.5067G>C
c.3035G>C (p.Ser1012Thr)
c.2318G>C (p.Ser773Thr)
11g.68448886G>TCA381618123LRP5c.4664G>T (p.Ser1555Ile)
n.255G>T
c.334G>T
c.*3270G>T (n.*3270G>T)
c.2921G>T (p.Ser974Ile)
c.4778G>T (p.Ser1593Ile)
c.4805G>T (p.Ser1602Ile)
c.4691G>T (p.Ser1564Ile)
c.*18G>T (n.*18G>T)
n.5051G>T
n.5067G>T
c.3035G>T (p.Ser1012Ile)
c.2318G>T (p.Ser773Ile)
11g.68448887C>ACA381618125LRP5c.4665C>A (p.Ser1555Arg)
n.256C>A
c.335C>A
c.*3271C>A (n.*3271C>A)
c.2922C>A (p.Ser974Arg)
c.4779C>A (p.Ser1593Arg)
c.4806C>A (p.Ser1602Arg)
c.4692C>A (p.Ser1564Arg)
c.*19C>A (n.*19C>A)
n.5052C>A
n.5068C>A
c.3036C>A (p.Ser1012Arg)
c.2319C>A (p.Ser773Arg)
11g.68448887C>GCA381618127LRP5c.4665C>G (p.Ser1555Arg)
n.256C>G
c.335C>G
c.*3271C>G (n.*3271C>G)
c.2922C>G (p.Ser974Arg)
c.4779C>G (p.Ser1593Arg)
c.4806C>G (p.Ser1602Arg)
c.4692C>G (p.Ser1564Arg)
c.*19C>G (n.*19C>G)
n.5052C>G
n.5068C>G
c.3036C>G (p.Ser1012Arg)
c.2319C>G (p.Ser773Arg)
11g.68448887C>TCA475462570LRP5c.4665C>T (p.Ser1555=)
n.256C>T
c.335C>T
c.*3271C>T (n.*3271C>T)
c.2922C>T (p.Ser974=)
c.4779C>T (p.Ser1593=)
c.4806C>T (p.Ser1602=)
c.4692C>T (p.Ser1564=)
c.*19C>T (n.*19C>T)
n.5052C>T
n.5068C>T
c.3036C>T (p.Ser1012=)
c.2319C>T (p.Ser773=)
11g.68448888C>ACA381618131LRP5c.4666C>A (p.Arg1556Ser)
n.257C>A
c.336C>A
c.*3272C>A (n.*3272C>A)
c.2923C>A (p.Arg975Ser)
c.4780C>A (p.Arg1594Ser)
c.4807C>A (p.Arg1603Ser)
c.4693C>A (p.Arg1565Ser)
c.*20C>A (n.*20C>A)
n.5053C>A
n.5069C>A
c.3037C>A (p.Arg1013Ser)
c.2320C>A (p.Arg774Ser)
11g.68448888C=CA1980656713LRP5c.4666C= (p.Arg1556=)
n.257C=
c.336C=
c.*3272C= (n.*3272C=)
c.2923C= (p.Arg975=)
c.4780C= (p.Arg1594=)
c.4807C= (p.Arg1603=)
c.4693C= (p.Arg1565=)
c.*20C= (n.*20C=)
n.5053C=
n.5069C=
c.3037C= (p.Arg1013=)
c.2320C= (p.Arg774=)
11g.68448888C>GCA381618129LRP5c.4666C>G (p.Arg1556Gly)
n.257C>G
c.336C>G
c.*3272C>G (n.*3272C>G)
c.2923C>G (p.Arg975Gly)
c.4780C>G (p.Arg1594Gly)
c.4807C>G (p.Arg1603Gly)
c.4693C>G (p.Arg1565Gly)
c.*20C>G (n.*20C>G)
n.5053C>G
n.5069C>G
c.3037C>G (p.Arg1013Gly)
c.2320C>G (p.Arg774Gly)
11g.68448888C>TCA6150480LRP5c.4666C>T (p.Arg1556Cys)
n.257C>T
c.336C>T
c.*3272C>T (n.*3272C>T)
c.2923C>T (p.Arg975Cys)
c.4780C>T (p.Arg1594Cys)
c.4807C>T (p.Arg1603Cys)
c.4693C>T (p.Arg1565Cys)
c.*20C>T (n.*20C>T)
n.5053C>T
n.5069C>T
c.3037C>T (p.Arg1013Cys)
c.2320C>T (p.Arg774Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.68448889G>ACA6150481LRP5c.4667G>A (p.Arg1556His)
n.258G>A
c.337G>A
c.*3273G>A (n.*3273G>A)
c.2924G>A (p.Arg975His)
c.4781G>A (p.Arg1594His)
c.4808G>A (p.Arg1603His)
c.4694G>A (p.Arg1565His)
c.*21G>A (n.*21G>A)
n.5054G>A
n.5070G>A
c.3038G>A (p.Arg1013His)
c.2321G>A (p.Arg774His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68448889G>CCA381618132LRP5c.4667G>C (p.Arg1556Pro)
n.258G>C
c.337G>C
c.*3273G>C (n.*3273G>C)
c.2924G>C (p.Arg975Pro)
c.4781G>C (p.Arg1594Pro)
c.4808G>C (p.Arg1603Pro)
c.4694G>C (p.Arg1565Pro)
c.*21G>C (n.*21G>C)
n.5054G>C
n.5070G>C
c.3038G>C (p.Arg1013Pro)
c.2321G>C (p.Arg774Pro)
11g.68448889G=CA1980656715LRP5c.4667G= (p.Arg1556=)
n.258G=
c.337G=
c.*3273G= (n.*3273G=)
c.2924G= (p.Arg975=)
c.4781G= (p.Arg1594=)
c.4808G= (p.Arg1603=)
c.4694G= (p.Arg1565=)
c.*21G= (n.*21G=)
n.5054G=
n.5070G=
c.3038G= (p.Arg1013=)
c.2321G= (p.Arg774=)
11g.68448889G>TCA381618134LRP5c.4667G>T (p.Arg1556Leu)
n.258G>T
c.337G>T
c.*3273G>T (n.*3273G>T)
c.2924G>T (p.Arg975Leu)
c.4781G>T (p.Arg1594Leu)
c.4808G>T (p.Arg1603Leu)
c.4694G>T (p.Arg1565Leu)
c.*21G>T (n.*21G>T)
n.5054G>T
n.5070G>T
c.3038G>T (p.Arg1013Leu)
c.2321G>T (p.Arg774Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.68448890C>ACA475462576LRP5c.4668C>A (p.Arg1556=)
n.259C>A
c.338C>A
c.*3274C>A (n.*3274C>A)
c.2925C>A (p.Arg975=)
c.4782C>A (p.Arg1594=)
c.4809C>A (p.Arg1603=)
c.4695C>A (p.Arg1565=)
c.*22C>A (n.*22C>A)
n.5055C>A
n.5071C>A
c.3039C>A (p.Arg1013=)
c.2322C>A (p.Arg774=)
11g.68448890C>GCA475462580LRP5c.4668C>G (p.Arg1556=)
n.259C>G
c.338C>G
c.*3274C>G (n.*3274C>G)
c.2925C>G (p.Arg975=)
c.4782C>G (p.Arg1594=)
c.4809C>G (p.Arg1603=)
c.4695C>G (p.Arg1565=)
c.*22C>G (n.*22C>G)
n.5055C>G
n.5071C>G
c.3039C>G (p.Arg1013=)
c.2322C>G (p.Arg774=)
11g.68448890C>TCA475462578LRP5c.4668C>T (p.Arg1556=)
n.259C>T
c.338C>T
c.*3274C>T (n.*3274C>T)
c.2925C>T (p.Arg975=)
c.4782C>T (p.Arg1594=)
c.4809C>T (p.Arg1603=)
c.4695C>T (p.Arg1565=)
c.*22C>T (n.*22C>T)
n.5055C>T
n.5071C>T
c.3039C>T (p.Arg1013=)
c.2322C>T (p.Arg774=)
11g.68448891T>ACA381618136LRP5c.4669T>A (p.Trp1557Arg)
n.260T>A
c.339T>A
c.*3275T>A (n.*3275T>A)
c.2926T>A (p.Trp976Arg)
c.4783T>A (p.Trp1595Arg)
c.4810T>A (p.Trp1604Arg)
c.4696T>A (p.Trp1566Arg)
c.*23T>A (n.*23T>A)
n.5056T>A
n.5072T>A
c.3040T>A (p.Trp1014Arg)
c.2323T>A (p.Trp775Arg)
11g.68448891T>CCA381618138LRP5c.4669T>C (p.Trp1557Arg)
n.260T>C
c.339T>C
c.*3275T>C (n.*3275T>C)
c.2926T>C (p.Trp976Arg)
c.4783T>C (p.Trp1595Arg)
c.4810T>C (p.Trp1604Arg)
c.4696T>C (p.Trp1566Arg)
c.*23T>C (n.*23T>C)
n.5056T>C
n.5072T>C
c.3040T>C (p.Trp1014Arg)
c.2323T>C (p.Trp775Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.68448891T>GCA381618140LRP5c.4669T>G (p.Trp1557Gly)
n.260T>G
c.339T>G
c.*3275T>G (n.*3275T>G)
c.2926T>G (p.Trp976Gly)
c.4783T>G (p.Trp1595Gly)
c.4810T>G (p.Trp1604Gly)
c.4696T>G (p.Trp1566Gly)
c.*23T>G (n.*23T>G)
n.5056T>G
n.5072T>G
c.3040T>G (p.Trp1014Gly)
c.2323T>G (p.Trp775Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68448891T=CA1980656717LRP5c.4669T= (p.Trp1557=)
n.260T=
c.339T=
c.*3275T= (n.*3275T=)
c.2926T= (p.Trp976=)
c.4783T= (p.Trp1595=)
c.4810T= (p.Trp1604=)
c.4696T= (p.Trp1566=)
c.*23T= (n.*23T=)
n.5056T=
n.5072T=
c.3040T= (p.Trp1014=)
c.2323T= (p.Trp775=)
11g.68448892G>ACA381618142LRP5c.4670G>A (p.Trp1557Ter)
n.261G>A
c.340G>A
c.*3276G>A (n.*3276G>A)
c.2927G>A (p.Trp976Ter)
c.4784G>A (p.Trp1595Ter)
c.4811G>A (p.Trp1604Ter)
c.4697G>A (p.Trp1566Ter)
c.*24G>A (n.*24G>A)
n.5057G>A
n.5073G>A
c.3041G>A (p.Trp1014Ter)
c.2324G>A (p.Trp775Ter)
 ClinVar dbSNP
11g.68448892G>CCA381618143LRP5c.4670G>C (p.Trp1557Ser)
n.261G>C
c.340G>C
c.*3276G>C (n.*3276G>C)
c.2927G>C (p.Trp976Ser)
c.4784G>C (p.Trp1595Ser)
c.4811G>C (p.Trp1604Ser)
c.4697G>C (p.Trp1566Ser)
c.*24G>C (n.*24G>C)
n.5057G>C
n.5073G>C
c.3041G>C (p.Trp1014Ser)
c.2324G>C (p.Trp775Ser)
11g.68448892G>TCA381618145LRP5c.4670G>T (p.Trp1557Leu)
n.261G>T
c.340G>T
c.*3276G>T (n.*3276G>T)
c.2927G>T (p.Trp976Leu)
c.4784G>T (p.Trp1595Leu)
c.4811G>T (p.Trp1604Leu)
c.4697G>T (p.Trp1566Leu)
c.*24G>T (n.*24G>T)
n.5057G>T
n.5073G>T
c.3041G>T (p.Trp1014Leu)
c.2324G>T (p.Trp775Leu)
11g.68448893G>ACA381618147LRP5c.4671G>A (p.Trp1557Ter)
n.262G>A
c.341G>A
c.*3277G>A (n.*3277G>A)
c.2928G>A (p.Trp976Ter)
c.4785G>A (p.Trp1595Ter)
c.4812G>A (p.Trp1604Ter)
c.4698G>A (p.Trp1566Ter)
c.*25G>A (n.*25G>A)
n.5058G>A
n.5074G>A
c.3042G>A (p.Trp1014Ter)
c.2325G>A (p.Trp775Ter)
11g.68448893G>CCA381618152LRP5c.4671G>C (p.Trp1557Cys)
n.262G>C
c.341G>C
c.*3277G>C (n.*3277G>C)
c.2928G>C (p.Trp976Cys)
c.4785G>C (p.Trp1595Cys)
c.4812G>C (p.Trp1604Cys)
c.4698G>C (p.Trp1566Cys)
c.*25G>C (n.*25G>C)
n.5058G>C
n.5074G>C
c.3042G>C (p.Trp1014Cys)
c.2325G>C (p.Trp775Cys)
11g.68448893G>TCA381618153LRP5c.4671G>T (p.Trp1557Cys)
n.262G>T
c.341G>T
c.*3277G>T (n.*3277G>T)
c.2928G>T (p.Trp976Cys)
c.4785G>T (p.Trp1595Cys)
c.4812G>T (p.Trp1604Cys)
c.4698G>T (p.Trp1566Cys)
c.*25G>T (n.*25G>T)
n.5058G>T
n.5074G>T
c.3042G>T (p.Trp1014Cys)
c.2325G>T (p.Trp775Cys)
11g.68448894A>CCA381618155LRP5c.4672A>C (p.Lys1558Gln)
n.263A>C
c.342A>C
c.*3278A>C (n.*3278A>C)
c.2929A>C (p.Lys977Gln)
c.4786A>C (p.Lys1596Gln)
c.4813A>C (p.Lys1605Gln)
c.4699A>C (p.Lys1567Gln)
c.*26A>C (n.*26A>C)
n.5059A>C
n.5075A>C
c.3043A>C (p.Lys1015Gln)
c.2326A>C (p.Lys776Gln)
11g.68448894A>GCA381618157LRP5c.4672A>G (p.Lys1558Glu)
n.263A>G
c.342A>G
c.*3278A>G (n.*3278A>G)
c.2929A>G (p.Lys977Glu)
c.4786A>G (p.Lys1596Glu)
c.4813A>G (p.Lys1605Glu)
c.4699A>G (p.Lys1567Glu)
c.*26A>G (n.*26A>G)
n.5059A>G
n.5075A>G
c.3043A>G (p.Lys1015Glu)
c.2326A>G (p.Lys776Glu)
11g.68448894A>TCA381618159LRP5c.4672A>T (p.Lys1558Ter)
n.263A>T
c.342A>T
c.*3278A>T (n.*3278A>T)
c.2929A>T (p.Lys977Ter)
c.4786A>T (p.Lys1596Ter)
c.4813A>T (p.Lys1605Ter)
c.4699A>T (p.Lys1567Ter)
c.*26A>T (n.*26A>T)
n.5059A>T
n.5075A>T
c.3043A>T (p.Lys1015Ter)
c.2326A>T (p.Lys776Ter)
11g.68448895A=CA1980656719LRP5c.4673A= (p.Lys1558=)
n.264A=
c.343A=
c.*3279A= (n.*3279A=)
c.2930A= (p.Lys977=)
c.4787A= (p.Lys1596=)
c.4814A= (p.Lys1605=)
c.4700A= (p.Lys1567=)
c.*27A= (n.*27A=)
n.5060A=
n.5076A=
c.3044A= (p.Lys1015=)
c.2327A= (p.Lys776=)
11g.68448895A>CCA381618165LRP5c.4673A>C (p.Lys1558Thr)
n.264A>C
c.343A>C
c.*3279A>C (n.*3279A>C)
c.2930A>C (p.Lys977Thr)
c.4787A>C (p.Lys1596Thr)
c.4814A>C (p.Lys1605Thr)
c.4700A>C (p.Lys1567Thr)
c.*27A>C (n.*27A>C)
n.5060A>C
n.5076A>C
c.3044A>C (p.Lys1015Thr)
c.2327A>C (p.Lys776Thr)
11g.68448895A>GCA6150482LRP5c.4673A>G (p.Lys1558Arg)
n.264A>G
c.343A>G
c.*3279A>G (n.*3279A>G)
c.2930A>G (p.Lys977Arg)
c.4787A>G (p.Lys1596Arg)
c.4814A>G (p.Lys1605Arg)
c.4700A>G (p.Lys1567Arg)
c.*27A>G (n.*27A>G)
n.5060A>G
n.5076A>G
c.3044A>G (p.Lys1015Arg)
c.2327A>G (p.Lys776Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.68448895A>TCA381618163LRP5c.4673A>T (p.Lys1558Met)
n.264A>T
c.343A>T
c.*3279A>T (n.*3279A>T)
c.2930A>T (p.Lys977Met)
c.4787A>T (p.Lys1596Met)
c.4814A>T (p.Lys1605Met)
c.4700A>T (p.Lys1567Met)
c.*27A>T (n.*27A>T)
n.5060A>T
n.5076A>T
c.3044A>T (p.Lys1015Met)
c.2327A>T (p.Lys776Met)
11g.68448896G>ACA475462592LRP5c.4674G>A (p.Lys1558=)
n.265G>A
c.344G>A
c.*3280G>A (n.*3280G>A)
c.2931G>A (p.Lys977=)
c.4788G>A (p.Lys1596=)
c.4815G>A (p.Lys1605=)
c.4701G>A (p.Lys1567=)
c.*28G>A (n.*28G>A)
n.5061G>A
n.5077G>A
c.3045G>A (p.Lys1015=)
c.2328G>A (p.Lys776=)
 dbSNP gnomAD v2 gnomAD v4
11g.68448896G>CCA381618168LRP5c.4674G>C (p.Lys1558Asn)
n.265G>C
c.344G>C
c.*3280G>C (n.*3280G>C)
c.2931G>C (p.Lys977Asn)
c.4788G>C (p.Lys1596Asn)
c.4815G>C (p.Lys1605Asn)
c.4701G>C (p.Lys1567Asn)
c.*28G>C (n.*28G>C)
n.5061G>C
n.5077G>C
c.3045G>C (p.Lys1015Asn)
c.2328G>C (p.Lys776Asn)
11g.68448896G=CA1980656721LRP5c.4674G= (p.Lys1558=)
n.265G=
c.344G=
c.*3280G= (n.*3280G=)
c.2931G= (p.Lys977=)
c.4788G= (p.Lys1596=)
c.4815G= (p.Lys1605=)
c.4701G= (p.Lys1567=)
c.*28G= (n.*28G=)
n.5061G=
n.5077G=
c.3045G= (p.Lys1015=)
c.2328G= (p.Lys776=)
11g.68448896G>TCA381618169LRP5c.4674G>T (p.Lys1558Asn)
n.265G>T
c.344G>T
c.*3280G>T (n.*3280G>T)
c.2931G>T (p.Lys977Asn)
c.4788G>T (p.Lys1596Asn)
c.4815G>T (p.Lys1605Asn)
c.4701G>T (p.Lys1567Asn)
c.*28G>T (n.*28G>T)
n.5061G>T
n.5077G>T
c.3045G>T (p.Lys1015Asn)
c.2328G>T (p.Lys776Asn)
11g.68448897G>ACA381618172LRP5c.4675G>A (p.Ala1559Thr)
n.266G>A
c.345G>A
c.*3281G>A (n.*3281G>A)
c.2932G>A (p.Ala978Thr)
c.4789G>A (p.Ala1597Thr)
c.4816G>A (p.Ala1606Thr)
c.4702G>A (p.Ala1568Thr)
c.*29G>A (n.*29G>A)
n.5062G>A
n.5078G>A
c.3046G>A (p.Ala1016Thr)
c.2329G>A (p.Ala777Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.68448897G>CCA381618174LRP5c.4675G>C (p.Ala1559Pro)
n.266G>C
c.345G>C
c.*3281G>C (n.*3281G>C)
c.2932G>C (p.Ala978Pro)
c.4789G>C (p.Ala1597Pro)
c.4816G>C (p.Ala1606Pro)
c.4702G>C (p.Ala1568Pro)
c.*29G>C (n.*29G>C)
n.5062G>C
n.5078G>C
c.3046G>C (p.Ala1016Pro)
c.2329G>C (p.Ala777Pro)
 gnomAD v4
11g.68448897G=CA1980656722LRP5c.4675G= (p.Ala1559=)
n.266G=
c.345G=
c.*3281G= (n.*3281G=)
c.2932G= (p.Ala978=)
c.4789G= (p.Ala1597=)
c.4816G= (p.Ala1606=)
c.4702G= (p.Ala1568=)
c.*29G= (n.*29G=)
n.5062G=
n.5078G=
c.3046G= (p.Ala1016=)
c.2329G= (p.Ala777=)
11g.68448897G>TCA381618175LRP5c.4675G>T (p.Ala1559Ser)
n.266G>T
c.345G>T
c.*3281G>T (n.*3281G>T)
c.2932G>T (p.Ala978Ser)
c.4789G>T (p.Ala1597Ser)
c.4816G>T (p.Ala1606Ser)
c.4702G>T (p.Ala1568Ser)
c.*29G>T (n.*29G>T)
n.5062G>T
n.5078G>T
c.3046G>T (p.Ala1016Ser)
c.2329G>T (p.Ala777Ser)
11g.68448898C>ACA381618177LRP5c.4676C>A (p.Ala1559Asp)
n.267C>A
c.346C>A
c.*3282C>A (n.*3282C>A)
c.2933C>A (p.Ala978Asp)
c.4790C>A (p.Ala1597Asp)
c.4817C>A (p.Ala1606Asp)
c.4703C>A (p.Ala1568Asp)
c.*30C>A (n.*30C>A)
n.5063C>A
n.5079C>A
c.3047C>A (p.Ala1016Asp)
c.2330C>A (p.Ala777Asp)
11g.68448898C=CA1980656723LRP5c.4676C= (p.Ala1559=)
n.267C=
c.346C=
c.*3282C= (n.*3282C=)
c.2933C= (p.Ala978=)
c.4790C= (p.Ala1597=)
c.4817C= (p.Ala1606=)
c.4703C= (p.Ala1568=)
c.*30C= (n.*30C=)
n.5063C=
n.5079C=
c.3047C= (p.Ala1016=)
c.2330C= (p.Ala777=)
11g.68448898C>GCA381618180LRP5c.4676C>G (p.Ala1559Gly)
n.267C>G
c.346C>G
c.*3282C>G (n.*3282C>G)
c.2933C>G (p.Ala978Gly)
c.4790C>G (p.Ala1597Gly)
c.4817C>G (p.Ala1606Gly)
c.4703C>G (p.Ala1568Gly)
c.*30C>G (n.*30C>G)
n.5063C>G
n.5079C>G
c.3047C>G (p.Ala1016Gly)
c.2330C>G (p.Ala777Gly)
11g.68448898C>TCA381618181LRP5c.4676C>T (p.Ala1559Val)
n.267C>T
c.346C>T
c.*3282C>T (n.*3282C>T)
c.2933C>T (p.Ala978Val)
c.4790C>T (p.Ala1597Val)
c.4817C>T (p.Ala1606Val)
c.4703C>T (p.Ala1568Val)
c.*30C>T (n.*30C>T)
n.5063C>T
n.5079C>T
c.3047C>T (p.Ala1016Val)
c.2330C>T (p.Ala777Val)
 dbSNP gnomAD v2
11g.68448899C>ACA475462599LRP5c.4677C>A (p.Ala1559=)
n.268C>A
c.347C>A
c.*3283C>A (n.*3283C>A)
c.2934C>A (p.Ala978=)
c.4791C>A (p.Ala1597=)
c.4818C>A (p.Ala1606=)
c.4704C>A (p.Ala1568=)
c.*31C>A (n.*31C>A)
n.5064C>A
n.5080C>A
c.3048C>A (p.Ala1016=)
c.2331C>A (p.Ala777=)
11g.68448899C>GCA475462601LRP5c.4677C>G (p.Ala1559=)
n.268C>G
c.347C>G
c.*3283C>G (n.*3283C>G)
c.2934C>G (p.Ala978=)
c.4791C>G (p.Ala1597=)
c.4818C>G (p.Ala1606=)
c.4704C>G (p.Ala1568=)
c.*31C>G (n.*31C>G)
n.5064C>G
n.5080C>G
c.3048C>G (p.Ala1016=)
c.2331C>G (p.Ala777=)
11g.68448899C>TCA475462602LRP5c.4677C>T (p.Ala1559=)
n.268C>T
c.347C>T
c.*3283C>T (n.*3283C>T)
c.2934C>T (p.Ala978=)
c.4791C>T (p.Ala1597=)
c.4818C>T (p.Ala1606=)
c.4704C>T (p.Ala1568=)
c.*31C>T (n.*31C>T)
n.5064C>T
n.5080C>T
c.3048C>T (p.Ala1016=)
c.2331C>T (p.Ala777=)
11g.68448900A>CCA381618183LRP5c.4678A>C (p.Ser1560Arg)
n.269A>C
c.348A>C
c.*3284A>C (n.*3284A>C)
c.2935A>C (p.Ser979Arg)
c.4792A>C (p.Ser1598Arg)
c.4819A>C (p.Ser1607Arg)
c.4705A>C (p.Ser1569Arg)
c.*32A>C (n.*32A>C)
n.5065A>C
n.5081A>C
c.3049A>C (p.Ser1017Arg)
c.2332A>C (p.Ser778Arg)
11g.68448900A>GCA381618185LRP5c.4678A>G (p.Ser1560Gly)
n.269A>G
c.348A>G
c.*3284A>G (n.*3284A>G)
c.2935A>G (p.Ser979Gly)
c.4792A>G (p.Ser1598Gly)
c.4819A>G (p.Ser1607Gly)
c.4705A>G (p.Ser1569Gly)
c.*32A>G (n.*32A>G)
n.5065A>G
n.5081A>G
c.3049A>G (p.Ser1017Gly)
c.2332A>G (p.Ser778Gly)
11g.68448900A>TCA381618187LRP5c.4678A>T (p.Ser1560Cys)
n.269A>T
c.348A>T
c.*3284A>T (n.*3284A>T)
c.2935A>T (p.Ser979Cys)
c.4792A>T (p.Ser1598Cys)
c.4819A>T (p.Ser1607Cys)
c.4705A>T (p.Ser1569Cys)
c.*32A>T (n.*32A>T)
n.5065A>T
n.5081A>T
c.3049A>T (p.Ser1017Cys)
c.2332A>T (p.Ser778Cys)
11g.68448901G>ACA381618191LRP5c.4679G>A (p.Ser1560Asn)
n.270G>A
c.349G>A
c.*3285G>A (n.*3285G>A)
c.2936G>A (p.Ser979Asn)
c.4793G>A (p.Ser1598Asn)
c.4820G>A (p.Ser1607Asn)
c.4706G>A (p.Ser1569Asn)
c.*33G>A (n.*33G>A)
n.5066G>A
n.5082G>A
c.3050G>A (p.Ser1017Asn)
c.2333G>A (p.Ser778Asn)
 gnomAD v4
11g.68448901G>CCA381618193LRP5c.4679G>C (p.Ser1560Thr)
n.270G>C
c.349G>C
c.*3285G>C (n.*3285G>C)
c.2936G>C (p.Ser979Thr)
c.4793G>C (p.Ser1598Thr)
c.4820G>C (p.Ser1607Thr)
c.4706G>C (p.Ser1569Thr)
c.*33G>C (n.*33G>C)
n.5066G>C
n.5082G>C
c.3050G>C (p.Ser1017Thr)
c.2333G>C (p.Ser778Thr)
 gnomAD v4
11g.68448901G>TCA381618189LRP5c.4679G>T (p.Ser1560Ile)
n.270G>T
c.349G>T
c.*3285G>T (n.*3285G>T)
c.2936G>T (p.Ser979Ile)
c.4793G>T (p.Ser1598Ile)
c.4820G>T (p.Ser1607Ile)
c.4706G>T (p.Ser1569Ile)
c.*33G>T (n.*33G>T)
n.5066G>T
n.5082G>T
c.3050G>T (p.Ser1017Ile)
c.2333G>T (p.Ser778Ile)
11g.68448902C>ACA381618194LRP5c.4680C>A (p.Ser1560Arg)
n.271C>A
c.350C>A
c.*3286C>A (n.*3286C>A)
c.2937C>A (p.Ser979Arg)
c.4794C>A (p.Ser1598Arg)
c.4821C>A (p.Ser1607Arg)
c.4707C>A (p.Ser1569Arg)
c.*34C>A (n.*34C>A)
n.5067C>A
n.5083C>A
c.3051C>A (p.Ser1017Arg)
c.2334C>A (p.Ser778Arg)
11g.68448902C>GCA381618195LRP5c.4680C>G (p.Ser1560Arg)
n.271C>G
c.350C>G
c.*3286C>G (n.*3286C>G)
c.2937C>G (p.Ser979Arg)
c.4794C>G (p.Ser1598Arg)
c.4821C>G (p.Ser1607Arg)
c.4707C>G (p.Ser1569Arg)
c.*34C>G (n.*34C>G)
n.5067C>G
n.5083C>G
c.3051C>G (p.Ser1017Arg)
c.2334C>G (p.Ser778Arg)
11g.68448902C>TCA475462609LRP5c.4680C>T (p.Ser1560=)
n.271C>T
c.350C>T
c.*3286C>T (n.*3286C>T)
c.2937C>T (p.Ser979=)
c.4794C>T (p.Ser1598=)
c.4821C>T (p.Ser1607=)
c.4707C>T (p.Ser1569=)
c.*34C>T (n.*34C>T)
n.5067C>T
n.5083C>T
c.3051C>T (p.Ser1017=)
c.2334C>T (p.Ser778=)
11g.68448903A>CCA381618201LRP5c.4681A>C (p.Lys1561Gln)
n.272A>C
c.351A>C
c.*3287A>C (n.*3287A>C)
c.2938A>C (p.Lys980Gln)
c.4795A>C (p.Lys1599Gln)
c.4822A>C (p.Lys1608Gln)
c.4708A>C (p.Lys1570Gln)
c.*35A>C (n.*35A>C)
n.5068A>C
n.5084A>C
c.3052A>C (p.Lys1018Gln)
c.2335A>C (p.Lys779Gln)
11g.68448903A>GCA381618203LRP5c.4681A>G (p.Lys1561Glu)
n.272A>G
c.351A>G
c.*3287A>G (n.*3287A>G)
c.2938A>G (p.Lys980Glu)
c.4795A>G (p.Lys1599Glu)
c.4822A>G (p.Lys1608Glu)
c.4708A>G (p.Lys1570Glu)
c.*35A>G (n.*35A>G)
n.5068A>G
n.5084A>G
c.3052A>G (p.Lys1018Glu)
c.2335A>G (p.Lys779Glu)
 gnomAD v4
11g.68448903A>TCA381618205LRP5c.4681A>T (p.Lys1561Ter)
n.272A>T
c.351A>T
c.*3287A>T (n.*3287A>T)
c.2938A>T (p.Lys980Ter)
c.4795A>T (p.Lys1599Ter)
c.4822A>T (p.Lys1608Ter)
c.4708A>T (p.Lys1570Ter)
c.*35A>T (n.*35A>T)
n.5068A>T
n.5084A>T
c.3052A>T (p.Lys1018Ter)
c.2335A>T (p.Lys779Ter)
11g.68448904A>CCA381618207LRP5c.4682A>C (p.Lys1561Thr)
n.273A>C
c.352A>C
c.*3288A>C (n.*3288A>C)
c.2939A>C (p.Lys980Thr)
c.4796A>C (p.Lys1599Thr)
c.4823A>C (p.Lys1608Thr)
c.4709A>C (p.Lys1570Thr)
c.*36A>C (n.*36A>C)
n.5069A>C
n.5085A>C
c.3053A>C (p.Lys1018Thr)
c.2336A>C (p.Lys779Thr)
11g.68448904A>GCA381618209LRP5c.4682A>G (p.Lys1561Arg)
n.273A>G
c.352A>G
c.*3288A>G (n.*3288A>G)
c.2939A>G (p.Lys980Arg)
c.4796A>G (p.Lys1599Arg)
c.4823A>G (p.Lys1608Arg)
c.4709A>G (p.Lys1570Arg)
c.*36A>G (n.*36A>G)
n.5069A>G
n.5085A>G
c.3053A>G (p.Lys1018Arg)
c.2336A>G (p.Lys779Arg)
 gnomAD v4
11g.68448904A>TCA381618211LRP5c.4682A>T (p.Lys1561Met)
n.273A>T
c.352A>T
c.*3288A>T (n.*3288A>T)
c.2939A>T (p.Lys980Met)
c.4796A>T (p.Lys1599Met)
c.4823A>T (p.Lys1608Met)
c.4709A>T (p.Lys1570Met)
c.*36A>T (n.*36A>T)
n.5069A>T
n.5085A>T
c.3053A>T (p.Lys1018Met)
c.2336A>T (p.Lys779Met)
11g.68448905G>ACA475462617LRP5c.4683G>A (p.Lys1561=)
n.274G>A
c.353G>A
c.*3289G>A (n.*3289G>A)
c.2940G>A (p.Lys980=)
c.4797G>A (p.Lys1599=)
c.4824G>A (p.Lys1608=)
c.4710G>A (p.Lys1570=)
c.*37G>A (n.*37G>A)
n.5070G>A
n.5086G>A
c.3054G>A (p.Lys1018=)
c.2337G>A (p.Lys779=)
 dbSNP
11g.68448905G>CCA381618213LRP5c.4683G>C (p.Lys1561Asn)
n.274G>C
c.353G>C
c.*3289G>C (n.*3289G>C)
c.2940G>C (p.Lys980Asn)
c.4797G>C (p.Lys1599Asn)
c.4824G>C (p.Lys1608Asn)
c.4710G>C (p.Lys1570Asn)
c.*37G>C (n.*37G>C)
n.5070G>C
n.5086G>C
c.3054G>C (p.Lys1018Asn)
c.2337G>C (p.Lys779Asn)
11g.68448905G=CA1980656725LRP5c.4683G= (p.Lys1561=)
n.274G=
c.353G=
c.*3289G= (n.*3289G=)
c.2940G= (p.Lys980=)
c.4797G= (p.Lys1599=)
c.4824G= (p.Lys1608=)
c.4710G= (p.Lys1570=)
c.*37G= (n.*37G=)
n.5070G=
n.5086G=
c.3054G= (p.Lys1018=)
c.2337G= (p.Lys779=)
11g.68448905G>TCA381618214LRP5c.4683G>T (p.Lys1561Asn)
n.274G>T
c.353G>T
c.*3289G>T (n.*3289G>T)
c.2940G>T (p.Lys980Asn)
c.4797G>T (p.Lys1599Asn)
c.4824G>T (p.Lys1608Asn)
c.4710G>T (p.Lys1570Asn)
c.*37G>T (n.*37G>T)
n.5070G>T
n.5086G>T
c.3054G>T (p.Lys1018Asn)
c.2337G>T (p.Lys779Asn)
11g.68448906T>ACA381618217LRP5c.4684T>A (p.Tyr1562Asn)
n.275T>A
c.354T>A
c.*3290T>A (n.*3290T>A)
c.2941T>A (p.Tyr981Asn)
c.4798T>A (p.Tyr1600Asn)
c.4825T>A (p.Tyr1609Asn)
c.4711T>A (p.Tyr1571Asn)
c.*38T>A (n.*38T>A)
n.5071T>A
n.5087T>A
c.3055T>A (p.Tyr1019Asn)
c.2338T>A (p.Tyr780Asn)
11g.68448906T>CCA381618219LRP5c.4684T>C (p.Tyr1562His)
n.275T>C
c.354T>C
c.*3290T>C (n.*3290T>C)
c.2941T>C (p.Tyr981His)
c.4798T>C (p.Tyr1600His)
c.4825T>C (p.Tyr1609His)
c.4711T>C (p.Tyr1571His)
c.*38T>C (n.*38T>C)
n.5071T>C
n.5087T>C
c.3055T>C (p.Tyr1019His)
c.2338T>C (p.Tyr780His)
11g.68448906T>GCA381618220LRP5c.4684T>G (p.Tyr1562Asp)
n.275T>G
c.354T>G
c.*3290T>G (n.*3290T>G)
c.2941T>G (p.Tyr981Asp)
c.4798T>G (p.Tyr1600Asp)
c.4825T>G (p.Tyr1609Asp)
c.4711T>G (p.Tyr1571Asp)
c.*38T>G (n.*38T>G)
n.5071T>G
n.5087T>G
c.3055T>G (p.Tyr1019Asp)
c.2338T>G (p.Tyr780Asp)
11g.68448907A=CA1980656727LRP5c.4685A= (p.Tyr1562=)
n.276A=
c.355A=
c.*3291A= (n.*3291A=)
c.2942A= (p.Tyr981=)
c.4799A= (p.Tyr1600=)
c.4826A= (p.Tyr1609=)
c.4712A= (p.Tyr1571=)
c.*39A= (n.*39A=)
n.5072A=
n.5088A=
c.3056A= (p.Tyr1019=)
c.2339A= (p.Tyr780=)
11g.68448907A>CCA381618223LRP5c.4685A>C (p.Tyr1562Ser)
n.276A>C
c.355A>C
c.*3291A>C (n.*3291A>C)
c.2942A>C (p.Tyr981Ser)
c.4799A>C (p.Tyr1600Ser)
c.4826A>C (p.Tyr1609Ser)
c.4712A>C (p.Tyr1571Ser)
c.*39A>C (n.*39A>C)
n.5072A>C
n.5088A>C
c.3056A>C (p.Tyr1019Ser)
c.2339A>C (p.Tyr780Ser)
11g.68448907A>GCA6150483LRP5c.4685A>G (p.Tyr1562Cys)
n.276A>G
c.355A>G
c.*3291A>G (n.*3291A>G)
c.2942A>G (p.Tyr981Cys)
c.4799A>G (p.Tyr1600Cys)
c.4826A>G (p.Tyr1609Cys)
c.4712A>G (p.Tyr1571Cys)
c.*39A>G (n.*39A>G)
n.5072A>G
n.5088A>G
c.3056A>G (p.Tyr1019Cys)
c.2339A>G (p.Tyr780Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448907A>TCA381618221LRP5c.4685A>T (p.Tyr1562Phe)
n.276A>T
c.355A>T
c.*3291A>T (n.*3291A>T)
c.2942A>T (p.Tyr981Phe)
c.4799A>T (p.Tyr1600Phe)
c.4826A>T (p.Tyr1609Phe)
c.4712A>T (p.Tyr1571Phe)
c.*39A>T (n.*39A>T)
n.5072A>T
n.5088A>T
c.3056A>T (p.Tyr1019Phe)
c.2339A>T (p.Tyr780Phe)
11g.68448908C>ACA381618225LRP5c.4686C>A (p.Tyr1562Ter)
n.277C>A
c.356C>A
c.*3292C>A (n.*3292C>A)
c.2943C>A (p.Tyr981Ter)
c.4800C>A (p.Tyr1600Ter)
c.4827C>A (p.Tyr1609Ter)
c.4713C>A (p.Tyr1571Ter)
c.*40C>A (n.*40C>A)
n.5073C>A
n.5089C>A
c.3057C>A (p.Tyr1019Ter)
c.2340C>A (p.Tyr780Ter)
11g.68448908C>GCA381618227LRP5c.4686C>G (p.Tyr1562Ter)
n.277C>G
c.356C>G
c.*3292C>G (n.*3292C>G)
c.2943C>G (p.Tyr981Ter)
c.4800C>G (p.Tyr1600Ter)
c.4827C>G (p.Tyr1609Ter)
c.4713C>G (p.Tyr1571Ter)
c.*40C>G (n.*40C>G)
n.5073C>G
n.5089C>G
c.3057C>G (p.Tyr1019Ter)
c.2340C>G (p.Tyr780Ter)
11g.68448908C>TCA475462625LRP5c.4686C>T (p.Tyr1562=)
n.277C>T
c.356C>T
c.*3292C>T (n.*3292C>T)
c.2943C>T (p.Tyr981=)
c.4800C>T (p.Tyr1600=)
c.4827C>T (p.Tyr1609=)
c.4713C>T (p.Tyr1571=)
c.*40C>T (n.*40C>T)
n.5073C>T
n.5089C>T
c.3057C>T (p.Tyr1019=)
c.2340C>T (p.Tyr780=)
 gnomAD v4
11g.68448909T>ACA6150484LRP5c.4687T>A (p.Tyr1563Asn)
n.278T>A
c.357T>A
c.*3293T>A (n.*3293T>A)
c.2944T>A (p.Tyr982Asn)
c.4801T>A (p.Tyr1601Asn)
c.4828T>A (p.Tyr1610Asn)
c.4714T>A (p.Tyr1572Asn)
c.*41T>A (n.*41T>A)
n.5074T>A
n.5090T>A
c.3058T>A (p.Tyr1020Asn)
c.2341T>A (p.Tyr781Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68448909T>CCA381618229LRP5c.4687T>C (p.Tyr1563His)
n.278T>C
c.357T>C
c.*3293T>C (n.*3293T>C)
c.2944T>C (p.Tyr982His)
c.4801T>C (p.Tyr1601His)
c.4828T>C (p.Tyr1610His)
c.4714T>C (p.Tyr1572His)
c.*41T>C (n.*41T>C)
n.5074T>C
n.5090T>C
c.3058T>C (p.Tyr1020His)
c.2341T>C (p.Tyr781His)
 dbSNP gnomAD v4
11g.68448909T>GCA381618231LRP5c.4687T>G (p.Tyr1563Asp)
n.278T>G
c.357T>G
c.*3293T>G (n.*3293T>G)
c.2944T>G (p.Tyr982Asp)
c.4801T>G (p.Tyr1601Asp)
c.4828T>G (p.Tyr1610Asp)
c.4714T>G (p.Tyr1572Asp)
c.*41T>G (n.*41T>G)
n.5074T>G
n.5090T>G
c.3058T>G (p.Tyr1020Asp)
c.2341T>G (p.Tyr781Asp)
 dbSNP gnomAD v3 gnomAD v4
11g.68448909T=CA1980656730LRP5c.4687T= (p.Tyr1563=)
n.278T=
c.357T=
c.*3293T= (n.*3293T=)
c.2944T= (p.Tyr982=)
c.4801T= (p.Tyr1601=)
c.4828T= (p.Tyr1610=)
c.4714T= (p.Tyr1572=)
c.*41T= (n.*41T=)
n.5074T=
n.5090T=
c.3058T= (p.Tyr1020=)
c.2341T= (p.Tyr781=)
11g.68448910A=CA1980656732LRP5c.4688A= (p.Tyr1563=)
n.279A=
c.358A=
c.*3294A= (n.*3294A=)
c.2945A= (p.Tyr982=)
c.4802A= (p.Tyr1601=)
c.4829A= (p.Tyr1610=)
c.4715A= (p.Tyr1572=)
c.*42A= (n.*42A=)
n.5075A=
n.5091A=
c.3059A= (p.Tyr1020=)
c.2342A= (p.Tyr781=)
11g.68448910A>CCA381618233LRP5c.4688A>C (p.Tyr1563Ser)
n.279A>C
c.358A>C
c.*3294A>C (n.*3294A>C)
c.2945A>C (p.Tyr982Ser)
c.4802A>C (p.Tyr1601Ser)
c.4829A>C (p.Tyr1610Ser)
c.4715A>C (p.Tyr1572Ser)
c.*42A>C (n.*42A>C)
n.5075A>C
n.5091A>C
c.3059A>C (p.Tyr1020Ser)
c.2342A>C (p.Tyr781Ser)
11g.68448910A>GCA381618235LRP5c.4688A>G (p.Tyr1563Cys)
n.279A>G
c.358A>G
c.*3294A>G (n.*3294A>G)
c.2945A>G (p.Tyr982Cys)
c.4802A>G (p.Tyr1601Cys)
c.4829A>G (p.Tyr1610Cys)
c.4715A>G (p.Tyr1572Cys)
c.*42A>G (n.*42A>G)
n.5075A>G
n.5091A>G
c.3059A>G (p.Tyr1020Cys)
c.2342A>G (p.Tyr781Cys)
 dbSNP gnomAD v4
11g.68448910A>TCA381618237LRP5c.4688A>T (p.Tyr1563Phe)
n.279A>T
c.358A>T
c.*3294A>T (n.*3294A>T)
c.2945A>T (p.Tyr982Phe)
c.4802A>T (p.Tyr1601Phe)
c.4829A>T (p.Tyr1610Phe)
c.4715A>T (p.Tyr1572Phe)
c.*42A>T (n.*42A>T)
n.5075A>T
n.5091A>T
c.3059A>T (p.Tyr1020Phe)
c.2342A>T (p.Tyr781Phe)
11g.68448911C>ACA381618238LRP5c.4689C>A (p.Tyr1563Ter)
n.280C>A
c.359C>A
c.*3295C>A (n.*3295C>A)
c.2946C>A (p.Tyr982Ter)
c.4803C>A (p.Tyr1601Ter)
c.4830C>A (p.Tyr1610Ter)
c.4716C>A (p.Tyr1572Ter)
c.*43C>A (n.*43C>A)
n.5076C>A
n.5092C>A
c.3060C>A (p.Tyr1020Ter)
c.2343C>A (p.Tyr781Ter)
11g.68448911C=CA1980656736LRP5c.4689C= (p.Tyr1563=)
n.280C=
c.359C=
c.*3295C= (n.*3295C=)
c.2946C= (p.Tyr982=)
c.4803C= (p.Tyr1601=)
c.4830C= (p.Tyr1610=)
c.4716C= (p.Tyr1572=)
c.*43C= (n.*43C=)
n.5076C=
n.5092C=
c.3060C= (p.Tyr1020=)
c.2343C= (p.Tyr781=)
11g.68448911C>GCA381618240LRP5c.4689C>G (p.Tyr1563Ter)
n.280C>G
c.359C>G
c.*3295C>G (n.*3295C>G)
c.2946C>G (p.Tyr982Ter)
c.4803C>G (p.Tyr1601Ter)
c.4830C>G (p.Tyr1610Ter)
c.4716C>G (p.Tyr1572Ter)
c.*43C>G (n.*43C>G)
n.5076C>G
n.5092C>G
c.3060C>G (p.Tyr1020Ter)
c.2343C>G (p.Tyr781Ter)
11g.68448911C>TCA6150485LRP5c.4689C>T (p.Tyr1563=)
n.280C>T
c.359C>T
c.*3295C>T (n.*3295C>T)
c.2946C>T (p.Tyr982=)
c.4803C>T (p.Tyr1601=)
c.4830C>T (p.Tyr1610=)
c.4716C>T (p.Tyr1572=)
c.*43C>T (n.*43C>T)
n.5076C>T
n.5092C>T
c.3060C>T (p.Tyr1020=)
c.2343C>T (p.Tyr781=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448912C>ACA381618242LRP5c.4690C>A (p.Leu1564Met)
n.281C>A
c.360C>A
c.*3296C>A (n.*3296C>A)
c.2947C>A (p.Leu983Met)
c.4804C>A (p.Leu1602Met)
c.4831C>A (p.Leu1611Met)
c.4717C>A (p.Leu1573Met)
c.*44C>A (n.*44C>A)
n.5077C>A
n.5093C>A
c.3061C>A (p.Leu1021Met)
c.2344C>A (p.Leu782Met)
11g.68448912C=CA1980656737LRP5c.4690C= (p.Leu1564=)
n.281C=
c.360C=
c.*3296C= (n.*3296C=)
c.2947C= (p.Leu983=)
c.4804C= (p.Leu1602=)
c.4831C= (p.Leu1611=)
c.4717C= (p.Leu1573=)
c.*44C= (n.*44C=)
n.5077C=
n.5093C=
c.3061C= (p.Leu1021=)
c.2344C= (p.Leu782=)
11g.68448912C>GCA381618244LRP5c.4690C>G (p.Leu1564Val)
n.281C>G
c.360C>G
c.*3296C>G (n.*3296C>G)
c.2947C>G (p.Leu983Val)
c.4804C>G (p.Leu1602Val)
c.4831C>G (p.Leu1611Val)
c.4717C>G (p.Leu1573Val)
c.*44C>G (n.*44C>G)
n.5077C>G
n.5093C>G
c.3061C>G (p.Leu1021Val)
c.2344C>G (p.Leu782Val)
11g.68448912C>TCA475462635LRP5c.4690C>T (p.Leu1564=)
n.281C>T
c.360C>T
c.*3296C>T (n.*3296C>T)
c.2947C>T (p.Leu983=)
c.4804C>T (p.Leu1602=)
c.4831C>T (p.Leu1611=)
c.4717C>T (p.Leu1573=)
c.*44C>T (n.*44C>T)
n.5077C>T
n.5093C>T
c.3061C>T (p.Leu1021=)
c.2344C>T (p.Leu782=)
 dbSNP
11g.68448913T>ACA381618250LRP5c.4691T>A (p.Leu1564Gln)
n.282T>A
c.361T>A
c.*3297T>A (n.*3297T>A)
c.2948T>A (p.Leu983Gln)
c.4805T>A (p.Leu1602Gln)
c.4832T>A (p.Leu1611Gln)
c.4718T>A (p.Leu1573Gln)
c.*45T>A (n.*45T>A)
n.5078T>A
n.5094T>A
c.3062T>A (p.Leu1021Gln)
c.2345T>A (p.Leu782Gln)
11g.68448913T>CCA381618248LRP5c.4691T>C (p.Leu1564Pro)
n.282T>C
c.361T>C
c.*3297T>C (n.*3297T>C)
c.2948T>C (p.Leu983Pro)
c.4805T>C (p.Leu1602Pro)
c.4832T>C (p.Leu1611Pro)
c.4718T>C (p.Leu1573Pro)
c.*45T>C (n.*45T>C)
n.5078T>C
n.5094T>C
c.3062T>C (p.Leu1021Pro)
c.2345T>C (p.Leu782Pro)
11g.68448913T>GCA381618246LRP5c.4691T>G (p.Leu1564Arg)
n.282T>G
c.361T>G
c.*3297T>G (n.*3297T>G)
c.2948T>G (p.Leu983Arg)
c.4805T>G (p.Leu1602Arg)
c.4832T>G (p.Leu1611Arg)
c.4718T>G (p.Leu1573Arg)
c.*45T>G (n.*45T>G)
n.5078T>G
n.5094T>G
c.3062T>G (p.Leu1021Arg)
c.2345T>G (p.Leu782Arg)
11g.68448914G>ACA224260748LRP5c.4692G>A (p.Leu1564=)
n.283G>A
c.362G>A
c.*3298G>A (n.*3298G>A)
c.2949G>A (p.Leu983=)
c.4806G>A (p.Leu1602=)
c.4833G>A (p.Leu1611=)
c.4719G>A (p.Leu1573=)
c.*46G>A (n.*46G>A)
n.5079G>A
n.5095G>A
c.3063G>A (p.Leu1021=)
c.2346G>A (p.Leu782=)
 dbSNP gnomAD v3 gnomAD v4
11g.68448914G>CCA475462640LRP5c.4692G>C (p.Leu1564=)
n.283G>C
c.362G>C
c.*3298G>C (n.*3298G>C)
c.2949G>C (p.Leu983=)
c.4806G>C (p.Leu1602=)
c.4833G>C (p.Leu1611=)
c.4719G>C (p.Leu1573=)
c.*46G>C (n.*46G>C)
n.5079G>C
n.5095G>C
c.3063G>C (p.Leu1021=)
c.2346G>C (p.Leu782=)
11g.68448914G=CA1980656739LRP5c.4692G= (p.Leu1564=)
n.283G=
c.362G=
c.*3298G= (n.*3298G=)
c.2949G= (p.Leu983=)
c.4806G= (p.Leu1602=)
c.4833G= (p.Leu1611=)
c.4719G= (p.Leu1573=)
c.*46G= (n.*46G=)
n.5079G=
n.5095G=
c.3063G= (p.Leu1021=)
c.2346G= (p.Leu782=)
11g.68448914G>TCA475462642LRP5c.4692G>T (p.Leu1564=)
n.283G>T
c.362G>T
c.*3298G>T (n.*3298G>T)
c.2949G>T (p.Leu983=)
c.4806G>T (p.Leu1602=)
c.4833G>T (p.Leu1611=)
c.4719G>T (p.Leu1573=)
c.*46G>T (n.*46G>T)
n.5079G>T
n.5095G>T
c.3063G>T (p.Leu1021=)
c.2346G>T (p.Leu782=)
11g.68448915G>ACA381618257LRP5c.4693G>A (p.Asp1565Asn)
n.284G>A
c.363G>A
c.*3299G>A (n.*3299G>A)
c.2950G>A (p.Asp984Asn)
c.4807G>A (p.Asp1603Asn)
c.4834G>A (p.Asp1612Asn)
c.4720G>A (p.Asp1574Asn)
c.*47G>A (n.*47G>A)
n.5080G>A
n.5096G>A
c.3064G>A (p.Asp1022Asn)
c.2347G>A (p.Asp783Asn)
 dbSNP gnomAD v3 gnomAD v4
11g.68448915G>CCA381618259LRP5c.4693G>C (p.Asp1565His)
n.284G>C
c.363G>C
c.*3299G>C (n.*3299G>C)
c.2950G>C (p.Asp984His)
c.4807G>C (p.Asp1603His)
c.4834G>C (p.Asp1612His)
c.4720G>C (p.Asp1574His)
c.*47G>C (n.*47G>C)
n.5080G>C
n.5096G>C
c.3064G>C (p.Asp1022His)
c.2347G>C (p.Asp783His)
11g.68448915G=CA1980656743LRP5c.4693G= (p.Asp1565=)
n.284G=
c.363G=
c.*3299G= (n.*3299G=)
c.2950G= (p.Asp984=)
c.4807G= (p.Asp1603=)
c.4834G= (p.Asp1612=)
c.4720G= (p.Asp1574=)
c.*47G= (n.*47G=)
n.5080G=
n.5096G=
c.3064G= (p.Asp1022=)
c.2347G= (p.Asp783=)
11g.68448915G>TCA381618262LRP5c.4693G>T (p.Asp1565Tyr)
n.284G>T
c.363G>T
c.*3299G>T (n.*3299G>T)
c.2950G>T (p.Asp984Tyr)
c.4807G>T (p.Asp1603Tyr)
c.4834G>T (p.Asp1612Tyr)
c.4720G>T (p.Asp1574Tyr)
c.*47G>T (n.*47G>T)
n.5080G>T
n.5096G>T
c.3064G>T (p.Asp1022Tyr)
c.2347G>T (p.Asp783Tyr)
11g.68448916A>CCA381618264LRP5c.4694A>C (p.Asp1565Ala)
n.285A>C
c.364A>C
c.*3300A>C (n.*3300A>C)
c.2951A>C (p.Asp984Ala)
c.4808A>C (p.Asp1603Ala)
c.4835A>C (p.Asp1612Ala)
c.4721A>C (p.Asp1574Ala)
c.*48A>C (n.*48A>C)
n.5081A>C
n.5097A>C
c.3065A>C (p.Asp1022Ala)
c.2348A>C (p.Asp783Ala)
11g.68448916A>GCA381618265LRP5c.4694A>G (p.Asp1565Gly)
n.285A>G
c.364A>G
c.*3300A>G (n.*3300A>G)
c.2951A>G (p.Asp984Gly)
c.4808A>G (p.Asp1603Gly)
c.4835A>G (p.Asp1612Gly)
c.4721A>G (p.Asp1574Gly)
c.*48A>G (n.*48A>G)
n.5081A>G
n.5097A>G
c.3065A>G (p.Asp1022Gly)
c.2348A>G (p.Asp783Gly)
11g.68448916A>TCA381618267LRP5c.4694A>T (p.Asp1565Val)
n.285A>T
c.364A>T
c.*3300A>T (n.*3300A>T)
c.2951A>T (p.Asp984Val)
c.4808A>T (p.Asp1603Val)
c.4835A>T (p.Asp1612Val)
c.4721A>T (p.Asp1574Val)
c.*48A>T (n.*48A>T)
n.5081A>T
n.5097A>T
c.3065A>T (p.Asp1022Val)
c.2348A>T (p.Asp783Val)
11g.68448916_68448957dupCA600239277LRP5c.4694_4735dup (p.Thr1578_Pro1579insHisLeuAsnSerAspSerAspProTyrProProProProThr)
n.285_326dup
c.364_405dup
c.*3300_*3341dup (n.*3300_*3341dup)
c.2951_2992dup (p.Thr997_Pro998insHisLeuAsnSerAspSerAspProTyrProProProProThr)
c.4808_4849dup (p.Thr1616_Pro1617insHisLeuAsnSerAspSerAspProTyrProProProProThr)
c.4835_4876dup (p.Thr1625_Pro1626insHisLeuAsnSerAspSerAspProTyrProProProProThr)
c.4721_4762dup (p.Thr1587_Pro1588insHisLeuAsnSerAspSerAspProTyrProProProProThr)
c.*48_*89dup (n.*48_*89dup)
n.5081_5122dup
n.5097_5138dup
c.3065_3106dup (p.Thr1035_Pro1036insHisLeuAsnSerAspSerAspProTyrProProProProThr)
c.2348_2389dup (p.Thr796_Pro797insHisLeuAsnSerAspSerAspProTyrProProProProThr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68448917T>ACA381618271LRP5c.4695T>A (p.Asp1565Glu)
n.286T>A
c.365T>A
c.*3301T>A (n.*3301T>A)
c.2952T>A (p.Asp984Glu)
c.4809T>A (p.Asp1603Glu)
c.4836T>A (p.Asp1612Glu)
c.4722T>A (p.Asp1574Glu)
c.*49T>A (n.*49T>A)
n.5082T>A
n.5098T>A
c.3066T>A (p.Asp1022Glu)
c.2349T>A (p.Asp783Glu)
11g.68448917T>CCA475462648LRP5c.4695T>C (p.Asp1565=)
n.286T>C
c.365T>C
c.*3301T>C (n.*3301T>C)
c.2952T>C (p.Asp984=)
c.4809T>C (p.Asp1603=)
c.4836T>C (p.Asp1612=)
c.4722T>C (p.Asp1574=)
c.*49T>C (n.*49T>C)
n.5082T>C
n.5098T>C
c.3066T>C (p.Asp1022=)
c.2349T>C (p.Asp783=)
11g.68448917T>GCA381618269LRP5c.4695T>G (p.Asp1565Glu)
n.286T>G
c.365T>G
c.*3301T>G (n.*3301T>G)
c.2952T>G (p.Asp984Glu)
c.4809T>G (p.Asp1603Glu)
c.4836T>G (p.Asp1612Glu)
c.4722T>G (p.Asp1574Glu)
c.*49T>G (n.*49T>G)
n.5082T>G
n.5098T>G
c.3066T>G (p.Asp1022Glu)
c.2349T>G (p.Asp783Glu)
11g.68448918T>ACA381618273LRP5c.4696T>A (p.Leu1566Met)
n.287T>A
c.366T>A
c.*3302T>A (n.*3302T>A)
c.2953T>A (p.Leu985Met)
c.4810T>A (p.Leu1604Met)
c.4837T>A (p.Leu1613Met)
c.4723T>A (p.Leu1575Met)
c.*50T>A (n.*50T>A)
n.5083T>A
n.5099T>A
c.3067T>A (p.Leu1023Met)
c.2350T>A (p.Leu784Met)
11g.68448918T>CCA475462650LRP5c.4696T>C (p.Leu1566=)
n.287T>C
c.366T>C
c.*3302T>C (n.*3302T>C)
c.2953T>C (p.Leu985=)
c.4810T>C (p.Leu1604=)
c.4837T>C (p.Leu1613=)
c.4723T>C (p.Leu1575=)
c.*50T>C (n.*50T>C)
n.5083T>C
n.5099T>C
c.3067T>C (p.Leu1023=)
c.2350T>C (p.Leu784=)
 dbSNP gnomAD v4
11g.68448918T>GCA381618274LRP5c.4696T>G (p.Leu1566Val)
n.287T>G
c.366T>G
c.*3302T>G (n.*3302T>G)
c.2953T>G (p.Leu985Val)
c.4810T>G (p.Leu1604Val)
c.4837T>G (p.Leu1613Val)
c.4723T>G (p.Leu1575Val)
c.*50T>G (n.*50T>G)
n.5083T>G
n.5099T>G
c.3067T>G (p.Leu1023Val)
c.2350T>G (p.Leu784Val)
11g.68448918T=CA1980656748LRP5c.4696T= (p.Leu1566=)
n.287T=
c.366T=
c.*3302T= (n.*3302T=)
c.2953T= (p.Leu985=)
c.4810T= (p.Leu1604=)
c.4837T= (p.Leu1613=)
c.4723T= (p.Leu1575=)
c.*50T= (n.*50T=)
n.5083T=
n.5099T=
c.3067T= (p.Leu1023=)
c.2350T= (p.Leu784=)
11g.68448919T>ACA381618276LRP5c.4697T>A (p.Leu1566Ter)
n.288T>A
c.367T>A
c.*3303T>A (n.*3303T>A)
c.2954T>A (p.Leu985Ter)
c.4811T>A (p.Leu1604Ter)
c.4838T>A (p.Leu1613Ter)
c.4724T>A (p.Leu1575Ter)
c.*51T>A (n.*51T>A)
n.5084T>A
n.5100T>A
c.3068T>A (p.Leu1023Ter)
c.2351T>A (p.Leu784Ter)
11g.68448919T>CCA381618278LRP5c.4697T>C (p.Leu1566Ser)
n.288T>C
c.367T>C
c.*3303T>C (n.*3303T>C)
c.2954T>C (p.Leu985Ser)
c.4811T>C (p.Leu1604Ser)
c.4838T>C (p.Leu1613Ser)
c.4724T>C (p.Leu1575Ser)
c.*51T>C (n.*51T>C)
n.5084T>C
n.5100T>C
c.3068T>C (p.Leu1023Ser)
c.2351T>C (p.Leu784Ser)
11g.68448919T>GCA381618280LRP5c.4697T>G (p.Leu1566Trp)
n.288T>G
c.367T>G
c.*3303T>G (n.*3303T>G)
c.2954T>G (p.Leu985Trp)
c.4811T>G (p.Leu1604Trp)
c.4838T>G (p.Leu1613Trp)
c.4724T>G (p.Leu1575Trp)
c.*51T>G (n.*51T>G)
n.5084T>G
n.5100T>G
c.3068T>G (p.Leu1023Trp)
c.2351T>G (p.Leu784Trp)
11g.68448919_68448926delinsTGAACTCGCA1980656750LRP5c.4697_4704delinsTGAACTCG (p.Leu1566=)
n.288_295delinsTGAACTCG
c.367_374delinsTGAACTCG
c.*3303_*3310delinsTGAACTCG (n.*3303_*3310delinsTGAACTCG)
c.2954_2961delinsTGAACTCG (p.Leu985=)
c.4811_4818delinsTGAACTCG (p.Leu1604=)
c.4838_4845delinsTGAACTCG (p.Leu1613=)
c.4724_4731delinsTGAACTCG (p.Leu1575=)
c.*51_*58delinsTGAACTCG (n.*51_*58delinsTGAACTCG)
n.5084_5091delinsTGAACTCG
n.5100_5107delinsTGAACTCG
c.3068_3075delinsTGAACTCG (p.Leu1023=)
c.2351_2358delinsTGAACTCG (p.Leu784=)
11g.68448920G>ACA475462654LRP5c.4698G>A (p.Leu1566=)
n.289G>A
c.368G>A
c.*3304G>A (n.*3304G>A)
c.2955G>A (p.Leu985=)
c.4812G>A (p.Leu1604=)
c.4839G>A (p.Leu1613=)
c.4725G>A (p.Leu1575=)
c.*52G>A (n.*52G>A)
n.5085G>A
n.5101G>A
c.3069G>A (p.Leu1023=)
c.2352G>A (p.Leu784=)
11g.68448920G>CCA381618281LRP5c.4698G>C (p.Leu1566Phe)
n.289G>C
c.368G>C
c.*3304G>C (n.*3304G>C)
c.2955G>C (p.Leu985Phe)
c.4812G>C (p.Leu1604Phe)
c.4839G>C (p.Leu1613Phe)
c.4725G>C (p.Leu1575Phe)
c.*52G>C (n.*52G>C)
n.5085G>C
n.5101G>C
c.3069G>C (p.Leu1023Phe)
c.2352G>C (p.Leu784Phe)
11g.68448920G>TCA381618283LRP5c.4698G>T (p.Leu1566Phe)
n.289G>T
c.368G>T
c.*3304G>T (n.*3304G>T)
c.2955G>T (p.Leu985Phe)
c.4812G>T (p.Leu1604Phe)
c.4839G>T (p.Leu1613Phe)
c.4725G>T (p.Leu1575Phe)
c.*52G>T (n.*52G>T)
n.5085G>T
n.5101G>T
c.3069G>T (p.Leu1023Phe)
c.2352G>T (p.Leu784Phe)
11g.68448922_68448928delCA916083257LRP5c.4700_4706del (p.Asn1567ThrfsTer?)
n.291_297del
c.370_376del
c.*3306_*3312del (n.*3306_*3312del)
c.2957_2963del (p.Asn986ThrfsTer?)
c.4814_4820del (p.Asn1605ThrfsTer?)
c.4841_4847del (p.Asn1614ThrfsTer?)
c.4727_4733del (p.Asn1576ThrfsTer?)
c.*54_*60del (n.*54_*60del)
n.5087_5093del
n.5103_5109del
c.3071_3077del (p.Asn1024ThrfsTer?)
c.2354_2360del (p.Asn785ThrfsTer?)
 ClinVar dbSNP
11g.68448921A>CCA381618286LRP5c.4699A>C (p.Asn1567His)
n.290A>C
c.369A>C
c.*3305A>C (n.*3305A>C)
c.2956A>C (p.Asn986His)
c.4813A>C (p.Asn1605His)
c.4840A>C (p.Asn1614His)
c.4726A>C (p.Asn1576His)
c.*53A>C (n.*53A>C)
n.5086A>C
n.5102A>C
c.3070A>C (p.Asn1024His)
c.2353A>C (p.Asn785His)
11g.68448921A>GCA381618290LRP5c.4699A>G (p.Asn1567Asp)
n.290A>G
c.369A>G
c.*3305A>G (n.*3305A>G)
c.2956A>G (p.Asn986Asp)
c.4813A>G (p.Asn1605Asp)
c.4840A>G (p.Asn1614Asp)
c.4726A>G (p.Asn1576Asp)
c.*53A>G (n.*53A>G)
n.5086A>G
n.5102A>G
c.3070A>G (p.Asn1024Asp)
c.2353A>G (p.Asn785Asp)
11g.68448921A>TCA381618287LRP5c.4699A>T (p.Asn1567Tyr)
n.290A>T
c.369A>T
c.*3305A>T (n.*3305A>T)
c.2956A>T (p.Asn986Tyr)
c.4813A>T (p.Asn1605Tyr)
c.4840A>T (p.Asn1614Tyr)
c.4726A>T (p.Asn1576Tyr)
c.*53A>T (n.*53A>T)
n.5086A>T
n.5102A>T
c.3070A>T (p.Asn1024Tyr)
c.2353A>T (p.Asn785Tyr)
11g.68448922A=CA1980656754LRP5c.4700A= (p.Asn1567=)
n.291A=
c.370A=
c.*3306A= (n.*3306A=)
c.2957A= (p.Asn986=)
c.4814A= (p.Asn1605=)
c.4841A= (p.Asn1614=)
c.4727A= (p.Asn1576=)
c.*54A= (n.*54A=)
n.5087A=
n.5103A=
c.3071A= (p.Asn1024=)
c.2354A= (p.Asn785=)
11g.68448922A>CCA381618293LRP5c.4700A>C (p.Asn1567Thr)
n.291A>C
c.370A>C
c.*3306A>C (n.*3306A>C)
c.2957A>C (p.Asn986Thr)
c.4814A>C (p.Asn1605Thr)
c.4841A>C (p.Asn1614Thr)
c.4727A>C (p.Asn1576Thr)
c.*54A>C (n.*54A>C)
n.5087A>C
n.5103A>C
c.3071A>C (p.Asn1024Thr)
c.2354A>C (p.Asn785Thr)
 dbSNP
11g.68448922A>GCA381618294LRP5c.4700A>G (p.Asn1567Ser)
n.291A>G
c.370A>G
c.*3306A>G (n.*3306A>G)
c.2957A>G (p.Asn986Ser)
c.4814A>G (p.Asn1605Ser)
c.4841A>G (p.Asn1614Ser)
c.4727A>G (p.Asn1576Ser)
c.*54A>G (n.*54A>G)
n.5087A>G
n.5103A>G
c.3071A>G (p.Asn1024Ser)
c.2354A>G (p.Asn785Ser)
11g.68448922A>TCA381618296LRP5c.4700A>T (p.Asn1567Ile)
n.291A>T
c.370A>T
c.*3306A>T (n.*3306A>T)
c.2957A>T (p.Asn986Ile)
c.4814A>T (p.Asn1605Ile)
c.4841A>T (p.Asn1614Ile)
c.4727A>T (p.Asn1576Ile)
c.*54A>T (n.*54A>T)
n.5087A>T
n.5103A>T
c.3071A>T (p.Asn1024Ile)
c.2354A>T (p.Asn785Ile)
11g.68448923C>ACA381618298LRP5c.4701C>A (p.Asn1567Lys)
n.292C>A
c.371C>A
c.*3307C>A (n.*3307C>A)
c.2958C>A (p.Asn986Lys)
c.4815C>A (p.Asn1605Lys)
c.4842C>A (p.Asn1614Lys)
c.4728C>A (p.Asn1576Lys)
c.*55C>A (n.*55C>A)
n.5088C>A
n.5104C>A
c.3072C>A (p.Asn1024Lys)
c.2355C>A (p.Asn785Lys)
11g.68448923C>GCA381618300LRP5c.4701C>G (p.Asn1567Lys)
n.292C>G
c.371C>G
c.*3307C>G (n.*3307C>G)
c.2958C>G (p.Asn986Lys)
c.4815C>G (p.Asn1605Lys)
c.4842C>G (p.Asn1614Lys)
c.4728C>G (p.Asn1576Lys)
c.*55C>G (n.*55C>G)
n.5088C>G
n.5104C>G
c.3072C>G (p.Asn1024Lys)
c.2355C>G (p.Asn785Lys)
11g.68448923C>TCA475462667LRP5c.4701C>T (p.Asn1567=)
n.292C>T
c.371C>T
c.*3307C>T (n.*3307C>T)
c.2958C>T (p.Asn986=)
c.4815C>T (p.Asn1605=)
c.4842C>T (p.Asn1614=)
c.4728C>T (p.Asn1576=)
c.*55C>T (n.*55C>T)
n.5088C>T
n.5104C>T
c.3072C>T (p.Asn1024=)
c.2355C>T (p.Asn785=)
11g.68448924T>ACA381618302LRP5c.4702T>A (p.Ser1568Thr)
n.293T>A
c.372T>A
c.*3308T>A (n.*3308T>A)
c.2959T>A (p.Ser987Thr)
c.4816T>A (p.Ser1606Thr)
c.4843T>A (p.Ser1615Thr)
c.4729T>A (p.Ser1577Thr)
c.*56T>A (n.*56T>A)
n.5089T>A
n.5105T>A
c.3073T>A (p.Ser1025Thr)
c.2356T>A (p.Ser786Thr)
11g.68448924T>CCA381618304LRP5c.4702T>C (p.Ser1568Pro)
n.293T>C
c.372T>C
c.*3308T>C (n.*3308T>C)
c.2959T>C (p.Ser987Pro)
c.4816T>C (p.Ser1606Pro)
c.4843T>C (p.Ser1615Pro)
c.4729T>C (p.Ser1577Pro)
c.*56T>C (n.*56T>C)
n.5089T>C
n.5105T>C
c.3073T>C (p.Ser1025Pro)
c.2356T>C (p.Ser786Pro)
11g.68448924T>GCA381618306LRP5c.4702T>G (p.Ser1568Ala)
n.293T>G
c.372T>G
c.*3308T>G (n.*3308T>G)
c.2959T>G (p.Ser987Ala)
c.4816T>G (p.Ser1606Ala)
c.4843T>G (p.Ser1615Ala)
c.4729T>G (p.Ser1577Ala)
c.*56T>G (n.*56T>G)
n.5089T>G
n.5105T>G
c.3073T>G (p.Ser1025Ala)
c.2356T>G (p.Ser786Ala)
11g.68448925C>ACA381618308LRP5c.4703C>A (p.Ser1568Ter)
n.294C>A
c.373C>A
c.*3309C>A (n.*3309C>A)
c.2960C>A (p.Ser987Ter)
c.4817C>A (p.Ser1606Ter)
c.4844C>A (p.Ser1615Ter)
c.4730C>A (p.Ser1577Ter)
c.*57C>A (n.*57C>A)
n.5090C>A
n.5106C>A
c.3074C>A (p.Ser1025Ter)
c.2357C>A (p.Ser786Ter)
11g.68448925C=CA1980656756LRP5c.4703C= (p.Ser1568=)
n.294C=
c.373C=
c.*3309C= (n.*3309C=)
c.2960C= (p.Ser987=)
c.4817C= (p.Ser1606=)
c.4844C= (p.Ser1615=)
c.4730C= (p.Ser1577=)
c.*57C= (n.*57C=)
n.5090C=
n.5106C=
c.3074C= (p.Ser1025=)
c.2357C= (p.Ser786=)
11g.68448925C>GCA381618311LRP5c.4703C>G (p.Ser1568Trp)
n.294C>G
c.373C>G
c.*3309C>G (n.*3309C>G)
c.2960C>G (p.Ser987Trp)
c.4817C>G (p.Ser1606Trp)
c.4844C>G (p.Ser1615Trp)
c.4730C>G (p.Ser1577Trp)
c.*57C>G (n.*57C>G)
n.5090C>G
n.5106C>G
c.3074C>G (p.Ser1025Trp)
c.2357C>G (p.Ser786Trp)
11g.68448925C>TCA6150486LRP5c.4703C>T (p.Ser1568Leu)
n.294C>T
c.373C>T
c.*3309C>T (n.*3309C>T)
c.2960C>T (p.Ser987Leu)
c.4817C>T (p.Ser1606Leu)
c.4844C>T (p.Ser1615Leu)
c.4730C>T (p.Ser1577Leu)
c.*57C>T (n.*57C>T)
n.5090C>T
n.5106C>T
c.3074C>T (p.Ser1025Leu)
c.2357C>T (p.Ser786Leu)
 dbSNP ExAC gnomAD v3 gnomAD v4
11g.68448926G>ACA6150487LRP5c.4704G>A (p.Ser1568=)
n.295G>A
c.374G>A
c.*3310G>A (n.*3310G>A)
c.2961G>A (p.Ser987=)
c.4818G>A (p.Ser1606=)
c.4845G>A (p.Ser1615=)
c.4731G>A (p.Ser1577=)
c.*58G>A (n.*58G>A)
n.5091G>A
n.5107G>A
c.3075G>A (p.Ser1025=)
c.2358G>A (p.Ser786=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448926G>CCA475462676LRP5c.4704G>C (p.Ser1568=)
n.295G>C
c.374G>C
c.*3310G>C (n.*3310G>C)
c.2961G>C (p.Ser987=)
c.4818G>C (p.Ser1606=)
c.4845G>C (p.Ser1615=)
c.4731G>C (p.Ser1577=)
c.*58G>C (n.*58G>C)
n.5091G>C
n.5107G>C
c.3075G>C (p.Ser1025=)
c.2358G>C (p.Ser786=)
11g.68448926G=CA1980656759LRP5c.4704G= (p.Ser1568=)
n.295G=
c.374G=
c.*3310G= (n.*3310G=)
c.2961G= (p.Ser987=)
c.4818G= (p.Ser1606=)
c.4845G= (p.Ser1615=)
c.4731G= (p.Ser1577=)
c.*58G= (n.*58G=)
n.5091G=
n.5107G=
c.3075G= (p.Ser1025=)
c.2358G= (p.Ser786=)
11g.68448926G>TCA475462674LRP5c.4704G>T (p.Ser1568=)
n.295G>T
c.374G>T
c.*3310G>T (n.*3310G>T)
c.2961G>T (p.Ser987=)
c.4818G>T (p.Ser1606=)
c.4845G>T (p.Ser1615=)
c.4731G>T (p.Ser1577=)
c.*58G>T (n.*58G>T)
n.5091G>T
n.5107G>T
c.3075G>T (p.Ser1025=)
c.2358G>T (p.Ser786=)
11g.68448927G>ACA381618319LRP5c.4705G>A (p.Asp1569Asn)
n.296G>A
c.375G>A
c.*3311G>A (n.*3311G>A)
c.2962G>A (p.Asp988Asn)
c.4819G>A (p.Asp1607Asn)
c.4846G>A (p.Asp1616Asn)
c.4732G>A (p.Asp1578Asn)
c.*59G>A (n.*59G>A)
n.5092G>A
n.5108G>A
c.3076G>A (p.Asp1026Asn)
c.2359G>A (p.Asp787Asn)
11g.68448927G>CCA381618314LRP5c.4705G>C (p.Asp1569His)
n.296G>C
c.375G>C
c.*3311G>C (n.*3311G>C)
c.2962G>C (p.Asp988His)
c.4819G>C (p.Asp1607His)
c.4846G>C (p.Asp1616His)
c.4732G>C (p.Asp1578His)
c.*59G>C (n.*59G>C)
n.5092G>C
n.5108G>C
c.3076G>C (p.Asp1026His)
c.2359G>C (p.Asp787His)
11g.68448927G>TCA381618317LRP5c.4705G>T (p.Asp1569Tyr)
n.296G>T
c.375G>T
c.*3311G>T (n.*3311G>T)
c.2962G>T (p.Asp988Tyr)
c.4819G>T (p.Asp1607Tyr)
c.4846G>T (p.Asp1616Tyr)
c.4732G>T (p.Asp1578Tyr)
c.*59G>T (n.*59G>T)
n.5092G>T
n.5108G>T
c.3076G>T (p.Asp1026Tyr)
c.2359G>T (p.Asp787Tyr)
11g.68448928A=CA1980656763LRP5c.4706A= (p.Asp1569=)
n.297A=
c.376A=
c.*3312A= (n.*3312A=)
c.2963A= (p.Asp988=)
c.4820A= (p.Asp1607=)
c.4847A= (p.Asp1616=)
c.4733A= (p.Asp1578=)
c.*60A= (n.*60A=)
n.5093A=
n.5109A=
c.3077A= (p.Asp1026=)
c.2360A= (p.Asp787=)
11g.68448928A>CCA381618322LRP5c.4706A>C (p.Asp1569Ala)
n.297A>C
c.376A>C
c.*3312A>C (n.*3312A>C)
c.2963A>C (p.Asp988Ala)
c.4820A>C (p.Asp1607Ala)
c.4847A>C (p.Asp1616Ala)
c.4733A>C (p.Asp1578Ala)
c.*60A>C (n.*60A>C)
n.5093A>C
n.5109A>C
c.3077A>C (p.Asp1026Ala)
c.2360A>C (p.Asp787Ala)
11g.68448928A>GCA381618323LRP5c.4706A>G (p.Asp1569Gly)
n.297A>G
c.376A>G
c.*3312A>G (n.*3312A>G)
c.2963A>G (p.Asp988Gly)
c.4820A>G (p.Asp1607Gly)
c.4847A>G (p.Asp1616Gly)
c.4733A>G (p.Asp1578Gly)
c.*60A>G (n.*60A>G)
n.5093A>G
n.5109A>G
c.3077A>G (p.Asp1026Gly)
c.2360A>G (p.Asp787Gly)
 dbSNP gnomAD v3 gnomAD v4
11g.68448928A>TCA381618326LRP5c.4706A>T (p.Asp1569Val)
n.297A>T
c.376A>T
c.*3312A>T (n.*3312A>T)
c.2963A>T (p.Asp988Val)
c.4820A>T (p.Asp1607Val)
c.4847A>T (p.Asp1616Val)
c.4733A>T (p.Asp1578Val)
c.*60A>T (n.*60A>T)
n.5093A>T
n.5109A>T
c.3077A>T (p.Asp1026Val)
c.2360A>T (p.Asp787Val)
11g.68448929C>ACA381618328LRP5c.4707C>A (p.Asp1569Glu)
n.298C>A
c.377C>A
c.*3313C>A (n.*3313C>A)
c.2964C>A (p.Asp988Glu)
c.4821C>A (p.Asp1607Glu)
c.4848C>A (p.Asp1616Glu)
c.4734C>A (p.Asp1578Glu)
c.*61C>A (n.*61C>A)
n.5094C>A
n.5110C>A
c.3078C>A (p.Asp1026Glu)
c.2361C>A (p.Asp787Glu)
11g.68448929C>GCA381618329LRP5c.4707C>G (p.Asp1569Glu)
n.298C>G
c.377C>G
c.*3313C>G (n.*3313C>G)
c.2964C>G (p.Asp988Glu)
c.4821C>G (p.Asp1607Glu)
c.4848C>G (p.Asp1616Glu)
c.4734C>G (p.Asp1578Glu)
c.*61C>G (n.*61C>G)
n.5094C>G
n.5110C>G
c.3078C>G (p.Asp1026Glu)
c.2361C>G (p.Asp787Glu)
11g.68448929C>TCA475462681LRP5c.4707C>T (p.Asp1569=)
n.298C>T
c.377C>T
c.*3313C>T (n.*3313C>T)
c.2964C>T (p.Asp988=)
c.4821C>T (p.Asp1607=)
c.4848C>T (p.Asp1616=)
c.4734C>T (p.Asp1578=)
c.*61C>T (n.*61C>T)
n.5094C>T
n.5110C>T
c.3078C>T (p.Asp1026=)
c.2361C>T (p.Asp787=)
11g.68448930T>ACA381618334LRP5c.4708T>A (p.Ser1570Thr)
n.299T>A
c.378T>A
c.*3314T>A (n.*3314T>A)
c.2965T>A (p.Ser989Thr)
c.4822T>A (p.Ser1608Thr)
c.4849T>A (p.Ser1617Thr)
c.4735T>A (p.Ser1579Thr)
c.*62T>A (n.*62T>A)
n.5095T>A
n.5111T>A
c.3079T>A (p.Ser1027Thr)
c.2362T>A (p.Ser788Thr)
11g.68448930T>CCA381618332LRP5c.4708T>C (p.Ser1570Pro)
n.299T>C
c.378T>C
c.*3314T>C (n.*3314T>C)
c.2965T>C (p.Ser989Pro)
c.4822T>C (p.Ser1608Pro)
c.4849T>C (p.Ser1617Pro)
c.4735T>C (p.Ser1579Pro)
c.*62T>C (n.*62T>C)
n.5095T>C
n.5111T>C
c.3079T>C (p.Ser1027Pro)
c.2362T>C (p.Ser788Pro)
11g.68448930T>GCA381618331LRP5c.4708T>G (p.Ser1570Ala)
n.299T>G
c.378T>G
c.*3314T>G (n.*3314T>G)
c.2965T>G (p.Ser989Ala)
c.4822T>G (p.Ser1608Ala)
c.4849T>G (p.Ser1617Ala)
c.4735T>G (p.Ser1579Ala)
c.*62T>G (n.*62T>G)
n.5095T>G
n.5111T>G
c.3079T>G (p.Ser1027Ala)
c.2362T>G (p.Ser788Ala)
11g.68448931C>ACA381618337LRP5c.4709C>A (p.Ser1570Ter)
n.300C>A
c.379C>A
c.*3315C>A (n.*3315C>A)
c.2966C>A (p.Ser989Ter)
c.4823C>A (p.Ser1608Ter)
c.4850C>A (p.Ser1617Ter)
c.4736C>A (p.Ser1579Ter)
c.*63C>A (n.*63C>A)
n.5096C>A
n.5112C>A
c.3080C>A (p.Ser1027Ter)
c.2363C>A (p.Ser788Ter)
11g.68448931C=CA1980656765LRP5c.4709C= (p.Ser1570=)
n.300C=
c.379C=
c.*3315C= (n.*3315C=)
c.2966C= (p.Ser989=)
c.4823C= (p.Ser1608=)
c.4850C= (p.Ser1617=)
c.4736C= (p.Ser1579=)
c.*63C= (n.*63C=)
n.5096C=
n.5112C=
c.3080C= (p.Ser1027=)
c.2363C= (p.Ser788=)
11g.68448931C>GCA381618338LRP5c.4709C>G (p.Ser1570Ter)
n.300C>G
c.379C>G
c.*3315C>G (n.*3315C>G)
c.2966C>G (p.Ser989Ter)
c.4823C>G (p.Ser1608Ter)
c.4850C>G (p.Ser1617Ter)
c.4736C>G (p.Ser1579Ter)
c.*63C>G (n.*63C>G)
n.5096C>G
n.5112C>G
c.3080C>G (p.Ser1027Ter)
c.2363C>G (p.Ser788Ter)
11g.68448931C>TCA6150488LRP5c.4709C>T (p.Ser1570Leu)
n.300C>T
c.379C>T
c.*3315C>T (n.*3315C>T)
c.2966C>T (p.Ser989Leu)
c.4823C>T (p.Ser1608Leu)
c.4850C>T (p.Ser1617Leu)
c.4736C>T (p.Ser1579Leu)
c.*63C>T (n.*63C>T)
n.5096C>T
n.5112C>T
c.3080C>T (p.Ser1027Leu)
c.2363C>T (p.Ser788Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448932A>CCA475462683LRP5c.4710A>C (p.Ser1570=)
n.301A>C
c.380A>C
c.*3316A>C (n.*3316A>C)
c.2967A>C (p.Ser989=)
c.4824A>C (p.Ser1608=)
c.4851A>C (p.Ser1617=)
c.4737A>C (p.Ser1579=)
c.*64A>C (n.*64A>C)
n.5097A>C
n.5113A>C
c.3081A>C (p.Ser1027=)
c.2364A>C (p.Ser788=)
11g.68448932A>GCA475462684LRP5c.4710A>G (p.Ser1570=)
n.301A>G
c.380A>G
c.*3316A>G (n.*3316A>G)
c.2967A>G (p.Ser989=)
c.4824A>G (p.Ser1608=)
c.4851A>G (p.Ser1617=)
c.4737A>G (p.Ser1579=)
c.*64A>G (n.*64A>G)
n.5097A>G
n.5113A>G
c.3081A>G (p.Ser1027=)
c.2364A>G (p.Ser788=)
11g.68448932A>TCA475462685LRP5c.4710A>T (p.Ser1570=)
n.301A>T
c.380A>T
c.*3316A>T (n.*3316A>T)
c.2967A>T (p.Ser989=)
c.4824A>T (p.Ser1608=)
c.4851A>T (p.Ser1617=)
c.4737A>T (p.Ser1579=)
c.*64A>T (n.*64A>T)
n.5097A>T
n.5113A>T
c.3081A>T (p.Ser1027=)
c.2364A>T (p.Ser788=)
11g.68448933G>ACA381618342LRP5c.4711G>A (p.Asp1571Asn)
n.302G>A
c.381G>A
c.*3317G>A (n.*3317G>A)
c.2968G>A (p.Asp990Asn)
c.4825G>A (p.Asp1609Asn)
c.4852G>A (p.Asp1618Asn)
c.4738G>A (p.Asp1580Asn)
c.*65G>A (n.*65G>A)
n.5098G>A
n.5114G>A
c.3082G>A (p.Asp1028Asn)
c.2365G>A (p.Asp789Asn)
11g.68448933G>CCA381618344LRP5c.4711G>C (p.Asp1571His)
n.302G>C
c.381G>C
c.*3317G>C (n.*3317G>C)
c.2968G>C (p.Asp990His)
c.4825G>C (p.Asp1609His)
c.4852G>C (p.Asp1618His)
c.4738G>C (p.Asp1580His)
c.*65G>C (n.*65G>C)
n.5098G>C
n.5114G>C
c.3082G>C (p.Asp1028His)
c.2365G>C (p.Asp789His)
11g.68448933G>TCA381618345LRP5c.4711G>T (p.Asp1571Tyr)
n.302G>T
c.381G>T
c.*3317G>T (n.*3317G>T)
c.2968G>T (p.Asp990Tyr)
c.4825G>T (p.Asp1609Tyr)
c.4852G>T (p.Asp1618Tyr)
c.4738G>T (p.Asp1580Tyr)
c.*65G>T (n.*65G>T)
n.5098G>T
n.5114G>T
c.3082G>T (p.Asp1028Tyr)
c.2365G>T (p.Asp789Tyr)
11g.68448934A=CA1980656767LRP5c.4712A= (p.Asp1571=)
n.303A=
c.382A=
c.*3318A= (n.*3318A=)
c.2969A= (p.Asp990=)
c.4826A= (p.Asp1609=)
c.4853A= (p.Asp1618=)
c.4739A= (p.Asp1580=)
c.*66A= (n.*66A=)
n.5099A=
n.5115A=
c.3083A= (p.Asp1028=)
c.2366A= (p.Asp789=)
11g.68448934A>CCA381618351LRP5c.4712A>C (p.Asp1571Ala)
n.303A>C
c.382A>C
c.*3318A>C (n.*3318A>C)
c.2969A>C (p.Asp990Ala)
c.4826A>C (p.Asp1609Ala)
c.4853A>C (p.Asp1618Ala)
c.4739A>C (p.Asp1580Ala)
c.*66A>C (n.*66A>C)
n.5099A>C
n.5115A>C
c.3083A>C (p.Asp1028Ala)
c.2366A>C (p.Asp789Ala)
 dbSNP gnomAD v4
11g.68448934A>GCA381618348LRP5c.4712A>G (p.Asp1571Gly)
n.303A>G
c.382A>G
c.*3318A>G (n.*3318A>G)
c.2969A>G (p.Asp990Gly)
c.4826A>G (p.Asp1609Gly)
c.4853A>G (p.Asp1618Gly)
c.4739A>G (p.Asp1580Gly)
c.*66A>G (n.*66A>G)
n.5099A>G
n.5115A>G
c.3083A>G (p.Asp1028Gly)
c.2366A>G (p.Asp789Gly)
11g.68448934A>TCA381618350LRP5c.4712A>T (p.Asp1571Val)
n.303A>T
c.382A>T
c.*3318A>T (n.*3318A>T)
c.2969A>T (p.Asp990Val)
c.4826A>T (p.Asp1609Val)
c.4853A>T (p.Asp1618Val)
c.4739A>T (p.Asp1580Val)
c.*66A>T (n.*66A>T)
n.5099A>T
n.5115A>T
c.3083A>T (p.Asp1028Val)
c.2366A>T (p.Asp789Val)

Number of alleles fetched