Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68446435G>ACA381616752LRP5c.4489-1G>A (n.4489-1G>A)
c.159-1G>A
c.*3095-1G>A (n.*3095-1G>A)
c.2746-1G>A (n.2746-1G>A)
c.4603-1G>A (n.4603-1G>A)
c.4630-1G>A (n.4630-1G>A)
c.4516-1G>A (n.4516-1G>A)
c.4646-1G>A (n.4646-1G>A)
n.4645-1G>A
n.4661-1G>A
c.2860-1G>A (n.2860-1G>A)
c.2143-1G>A (n.2143-1G>A)
11g.68446435G>CCA381616753LRP5c.4489-1G>C (n.4489-1G>C)
c.159-1G>C
c.*3095-1G>C (n.*3095-1G>C)
c.2746-1G>C (n.2746-1G>C)
c.4603-1G>C (n.4603-1G>C)
c.4630-1G>C (n.4630-1G>C)
c.4516-1G>C (n.4516-1G>C)
c.4646-1G>C (n.4646-1G>C)
n.4645-1G>C
n.4661-1G>C
c.2860-1G>C (n.2860-1G>C)
c.2143-1G>C (n.2143-1G>C)
11g.68446435G>TCA381616754LRP5c.4489-1G>T (n.4489-1G>T)
c.159-1G>T
c.*3095-1G>T (n.*3095-1G>T)
c.2746-1G>T (n.2746-1G>T)
c.4603-1G>T (n.4603-1G>T)
c.4630-1G>T (n.4630-1G>T)
c.4516-1G>T (n.4516-1G>T)
c.4646-1G>T (n.4646-1G>T)
n.4645-1G>T
n.4661-1G>T
c.2860-1G>T (n.2860-1G>T)
c.2143-1G>T (n.2143-1G>T)
11g.68446436A>CCA381616755LRP5c.4489A>C (p.Ile1497Leu)
c.159A>C
c.*3095A>C (n.*3095A>C)
c.2746A>C (p.Ile916Leu)
c.4603A>C (p.Ile1535Leu)
c.4630A>C (p.Ile1544Leu)
c.4516A>C (p.Ile1506Leu)
c.4646A>C (p.Asp1549Ala)
n.4645A>C
n.4661A>C
c.2860A>C (p.Ile954Leu)
c.2143A>C (p.Ile715Leu)
11g.68446436A>GCA381616756LRP5c.4489A>G (p.Ile1497Val)
c.159A>G
c.*3095A>G (n.*3095A>G)
c.2746A>G (p.Ile916Val)
c.4603A>G (p.Ile1535Val)
c.4630A>G (p.Ile1544Val)
c.4516A>G (p.Ile1506Val)
c.4646A>G (p.Asp1549Gly)
n.4645A>G
n.4661A>G
c.2860A>G (p.Ile954Val)
c.2143A>G (p.Ile715Val)
11g.68446436A>TCA381616757LRP5c.4489A>T (p.Ile1497Phe)
c.159A>T
c.*3095A>T (n.*3095A>T)
c.2746A>T (p.Ile916Phe)
c.4603A>T (p.Ile1535Phe)
c.4630A>T (p.Ile1544Phe)
c.4516A>T (p.Ile1506Phe)
c.4646A>T (p.Asp1549Val)
n.4645A>T
n.4661A>T
c.2860A>T (p.Ile954Phe)
c.2143A>T (p.Ile715Phe)
11g.68446437T>ACA381616758LRP5c.4490T>A (p.Ile1497Asn)
c.160T>A
c.*3096T>A (n.*3096T>A)
c.2747T>A (p.Ile916Asn)
c.4604T>A (p.Ile1535Asn)
c.4631T>A (p.Ile1544Asn)
c.4517T>A (p.Ile1506Asn)
c.4647T>A (p.Asp1549Glu)
n.4646T>A
n.4662T>A
c.2861T>A (p.Ile954Asn)
c.2144T>A (p.Ile715Asn)
11g.68446437T>CCA381616759LRP5c.4490T>C (p.Ile1497Thr)
c.160T>C
c.*3096T>C (n.*3096T>C)
c.2747T>C (p.Ile916Thr)
c.4604T>C (p.Ile1535Thr)
c.4631T>C (p.Ile1544Thr)
c.4517T>C (p.Ile1506Thr)
c.4647T>C (p.Asp1549=)
n.4646T>C
n.4662T>C
c.2861T>C (p.Ile954Thr)
c.2144T>C (p.Ile715Thr)
11g.68446437T>GCA381616760LRP5c.4490T>G (p.Ile1497Ser)
c.160T>G
c.*3096T>G (n.*3096T>G)
c.2747T>G (p.Ile916Ser)
c.4604T>G (p.Ile1535Ser)
c.4631T>G (p.Ile1544Ser)
c.4517T>G (p.Ile1506Ser)
c.4647T>G (p.Asp1549Glu)
n.4646T>G
n.4662T>G
c.2861T>G (p.Ile954Ser)
c.2144T>G (p.Ile715Ser)
11g.68446438C>ACA475462219LRP5c.4491C>A (p.Ile1497=)
c.161C>A
c.*3097C>A (n.*3097C>A)
c.2748C>A (p.Ile916=)
c.4605C>A (p.Ile1535=)
c.4632C>A (p.Ile1544=)
c.4518C>A (p.Ile1506=)
c.4648C>A (p.Pro1550Thr)
n.4647C>A
n.4663C>A
c.2862C>A (p.Ile954=)
c.2145C>A (p.Ile715=)
11g.68446438C=CA1980664401LRP5c.4491C= (p.Ile1497=)
c.161C=
c.*3097C= (n.*3097C=)
c.2748C= (p.Ile916=)
c.4605C= (p.Ile1535=)
c.4632C= (p.Ile1544=)
c.4518C= (p.Ile1506=)
c.4648C= (p.Pro1550=)
n.4647C=
n.4663C=
c.2862C= (p.Ile954=)
c.2145C= (p.Ile715=)
11g.68446438C>GCA381616761LRP5c.4491C>G (p.Ile1497Met)
c.161C>G
c.*3097C>G (n.*3097C>G)
c.2748C>G (p.Ile916Met)
c.4605C>G (p.Ile1535Met)
c.4632C>G (p.Ile1544Met)
c.4518C>G (p.Ile1506Met)
c.4648C>G (p.Pro1550Ala)
n.4647C>G
n.4663C>G
c.2862C>G (p.Ile954Met)
c.2145C>G (p.Ile715Met)
11g.68446438C>TCA475462220LRP5c.4491C>T (p.Ile1497=)
c.161C>T
c.*3097C>T (n.*3097C>T)
c.2748C>T (p.Ile916=)
c.4605C>T (p.Ile1535=)
c.4632C>T (p.Ile1544=)
c.4518C>T (p.Ile1506=)
c.4648C>T (p.Pro1550Ser)
n.4647C>T
n.4663C>T
c.2862C>T (p.Ile954=)
c.2145C>T (p.Ile715=)
 dbSNP gnomAD v2 gnomAD v4
11g.68446439C>ACA381616764LRP5c.4492C>A (p.Leu1498Met)
c.162C>A
c.*3098C>A (n.*3098C>A)
c.2749C>A (p.Leu917Met)
c.4606C>A (p.Leu1536Met)
c.4633C>A (p.Leu1545Met)
c.4519C>A (p.Leu1507Met)
c.4649C>A (p.Pro1550His)
n.4648C>A
n.4664C>A
c.2863C>A (p.Leu955Met)
c.2146C>A (p.Leu716Met)
11g.68446439C>GCA381616762LRP5c.4492C>G (p.Leu1498Val)
c.162C>G
c.*3098C>G (n.*3098C>G)
c.2749C>G (p.Leu917Val)
c.4606C>G (p.Leu1536Val)
c.4633C>G (p.Leu1545Val)
c.4519C>G (p.Leu1507Val)
c.4649C>G (p.Pro1550Arg)
n.4648C>G
n.4664C>G
c.2863C>G (p.Leu955Val)
c.2146C>G (p.Leu716Val)
11g.68446439C>TCA475462221LRP5c.4492C>T (p.Leu1498=)
c.162C>T
c.*3098C>T (n.*3098C>T)
c.2749C>T (p.Leu917=)
c.4606C>T (p.Leu1536=)
c.4633C>T (p.Leu1545=)
c.4519C>T (p.Leu1507=)
c.4649C>T (p.Pro1550Leu)
n.4648C>T
n.4664C>T
c.2863C>T (p.Leu955=)
c.2146C>T (p.Leu716=)
11g.68446440T>ACA381616767LRP5c.4493T>A (p.Leu1498Gln)
c.163T>A
c.*3099T>A (n.*3099T>A)
c.2750T>A (p.Leu917Gln)
c.4607T>A (p.Leu1536Gln)
c.4634T>A (p.Leu1545Gln)
c.4520T>A (p.Leu1507Gln)
c.4650T>A (p.Pro1550=)
n.4649T>A
n.4665T>A
c.2864T>A (p.Leu955Gln)
c.2147T>A (p.Leu716Gln)
11g.68446440T>CCA381616770LRP5c.4493T>C (p.Leu1498Pro)
c.163T>C
c.*3099T>C (n.*3099T>C)
c.2750T>C (p.Leu917Pro)
c.4607T>C (p.Leu1536Pro)
c.4634T>C (p.Leu1545Pro)
c.4520T>C (p.Leu1507Pro)
c.4650T>C (p.Pro1550=)
n.4649T>C
n.4665T>C
c.2864T>C (p.Leu955Pro)
c.2147T>C (p.Leu716Pro)
11g.68446440T>GCA381616768LRP5c.4493T>G (p.Leu1498Arg)
c.163T>G
c.*3099T>G (n.*3099T>G)
c.2750T>G (p.Leu917Arg)
c.4607T>G (p.Leu1536Arg)
c.4634T>G (p.Leu1545Arg)
c.4520T>G (p.Leu1507Arg)
c.4650T>G (p.Pro1550=)
n.4649T>G
n.4665T>G
c.2864T>G (p.Leu955Arg)
c.2147T>G (p.Leu716Arg)
11g.68446441G>ACA475462223LRP5c.4494G>A (p.Leu1498=)
c.164G>A
c.*3100G>A (n.*3100G>A)
c.2751G>A (p.Leu917=)
c.4608G>A (p.Leu1536=)
c.4635G>A (p.Leu1545=)
c.4521G>A (p.Leu1507=)
c.4651G>A (p.Glu1551Lys)
n.4650G>A
n.4666G>A
c.2865G>A (p.Leu955=)
c.2148G>A (p.Leu716=)
11g.68446441G>CCA475462225LRP5c.4494G>C (p.Leu1498=)
c.164G>C
c.*3100G>C (n.*3100G>C)
c.2751G>C (p.Leu917=)
c.4608G>C (p.Leu1536=)
c.4635G>C (p.Leu1545=)
c.4521G>C (p.Leu1507=)
c.4651G>C (p.Glu1551Gln)
n.4650G>C
n.4666G>C
c.2865G>C (p.Leu955=)
c.2148G>C (p.Leu716=)
11g.68446441G>TCA475462224LRP5c.4494G>T (p.Leu1498=)
c.164G>T
c.*3100G>T (n.*3100G>T)
c.2751G>T (p.Leu917=)
c.4608G>T (p.Leu1536=)
c.4635G>T (p.Leu1545=)
c.4521G>T (p.Leu1507=)
c.4651G>T (p.Glu1551Ter)
n.4650G>T
n.4666G>T
c.2865G>T (p.Leu955=)
c.2148G>T (p.Leu716=)
11g.68446442A>CCA381616773LRP5c.4495A>C (p.Asn1499His)
c.165A>C
c.*3101A>C (n.*3101A>C)
c.2752A>C (p.Asn918His)
c.4609A>C (p.Asn1537His)
c.4636A>C (p.Asn1546His)
c.4522A>C (p.Asn1508His)
c.4652A>C (p.Glu1551Ala)
n.4651A>C
n.4667A>C
c.2866A>C (p.Asn956His)
c.2149A>C (p.Asn717His)
 gnomAD v4
11g.68446442A>GCA381616776LRP5c.4495A>G (p.Asn1499Asp)
c.165A>G
c.*3101A>G (n.*3101A>G)
c.2752A>G (p.Asn918Asp)
c.4609A>G (p.Asn1537Asp)
c.4636A>G (p.Asn1546Asp)
c.4522A>G (p.Asn1508Asp)
c.4652A>G (p.Glu1551Gly)
n.4651A>G
n.4667A>G
c.2866A>G (p.Asn956Asp)
c.2149A>G (p.Asn717Asp)
11g.68446442A>TCA381616774LRP5c.4495A>T (p.Asn1499Tyr)
c.165A>T
c.*3101A>T (n.*3101A>T)
c.2752A>T (p.Asn918Tyr)
c.4609A>T (p.Asn1537Tyr)
c.4636A>T (p.Asn1546Tyr)
c.4522A>T (p.Asn1508Tyr)
c.4652A>T (p.Glu1551Val)
n.4651A>T
n.4667A>T
c.2866A>T (p.Asn956Tyr)
c.2149A>T (p.Asn717Tyr)
11g.68446443A=CA1980664403LRP5c.4496A= (p.Asn1499=)
c.166A=
c.*3102A= (n.*3102A=)
c.2753A= (p.Asn918=)
c.4610A= (p.Asn1537=)
c.4637A= (p.Asn1546=)
c.4523A= (p.Asn1508=)
c.4653A= (p.Glu1551=)
n.4652A=
n.4668A=
c.2867A= (p.Asn956=)
c.2150A= (p.Asn717=)
11g.68446443A>CCA381616779LRP5c.4496A>C (p.Asn1499Thr)
c.166A>C
c.*3102A>C (n.*3102A>C)
c.2753A>C (p.Asn918Thr)
c.4610A>C (p.Asn1537Thr)
c.4637A>C (p.Asn1546Thr)
c.4523A>C (p.Asn1508Thr)
c.4653A>C (p.Glu1551Asp)
n.4652A>C
n.4668A>C
c.2867A>C (p.Asn956Thr)
c.2150A>C (p.Asn717Thr)
 dbSNP
11g.68446443A>GCA6150412LRP5c.4496A>G (p.Asn1499Ser)
c.166A>G
c.*3102A>G (n.*3102A>G)
c.2753A>G (p.Asn918Ser)
c.4610A>G (p.Asn1537Ser)
c.4637A>G (p.Asn1546Ser)
c.4523A>G (p.Asn1508Ser)
c.4653A>G (p.Glu1551=)
n.4652A>G
n.4668A>G
c.2867A>G (p.Asn956Ser)
c.2150A>G (p.Asn717Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68446443A>TCA381616782LRP5c.4496A>T (p.Asn1499Ile)
c.166A>T
c.*3102A>T (n.*3102A>T)
c.2753A>T (p.Asn918Ile)
c.4610A>T (p.Asn1537Ile)
c.4637A>T (p.Asn1546Ile)
c.4523A>T (p.Asn1508Ile)
c.4653A>T (p.Glu1551Asp)
n.4652A>T
n.4668A>T
c.2867A>T (p.Asn956Ile)
c.2150A>T (p.Asn717Ile)
11g.68446444C>ACA381616784LRP5c.4497C>A (p.Asn1499Lys)
c.167C>A
c.*3103C>A (n.*3103C>A)
c.2754C>A (p.Asn918Lys)
c.4611C>A (p.Asn1537Lys)
c.4638C>A (p.Asn1546Lys)
c.4524C>A (p.Asn1508Lys)
c.4654C>A (p.Pro1552Thr)
n.4653C>A
n.4669C>A
c.2868C>A (p.Asn956Lys)
c.2151C>A (p.Asn717Lys)
11g.68446444C=CA1980664406LRP5c.4497C= (p.Asn1499=)
c.167C=
c.*3103C= (n.*3103C=)
c.2754C= (p.Asn918=)
c.4611C= (p.Asn1537=)
c.4638C= (p.Asn1546=)
c.4524C= (p.Asn1508=)
c.4654C= (p.Pro1552=)
n.4653C=
n.4669C=
c.2868C= (p.Asn956=)
c.2151C= (p.Asn717=)
11g.68446444C>GCA381616786LRP5c.4497C>G (p.Asn1499Lys)
c.167C>G
c.*3103C>G (n.*3103C>G)
c.2754C>G (p.Asn918Lys)
c.4611C>G (p.Asn1537Lys)
c.4638C>G (p.Asn1546Lys)
c.4524C>G (p.Asn1508Lys)
c.4654C>G (p.Pro1552Ala)
n.4653C>G
n.4669C>G
c.2868C>G (p.Asn956Lys)
c.2151C>G (p.Asn717Lys)
11g.68446444C>TCA6150413LRP5c.4497C>T (p.Asn1499=)
c.167C>T
c.*3103C>T (n.*3103C>T)
c.2754C>T (p.Asn918=)
c.4611C>T (p.Asn1537=)
c.4638C>T (p.Asn1546=)
c.4524C>T (p.Asn1508=)
c.4654C>T (p.Pro1552Ser)
n.4653C>T
n.4669C>T
c.2868C>T (p.Asn956=)
c.2151C>T (p.Asn717=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68446445C>ACA381616790LRP5c.4498C>A (p.Pro1500Thr)
c.168C>A
c.*3104C>A (n.*3104C>A)
c.2755C>A (p.Pro919Thr)
c.4612C>A (p.Pro1538Thr)
c.4639C>A (p.Pro1547Thr)
c.4525C>A (p.Pro1509Thr)
c.4655C>A (p.Pro1552His)
n.4654C>A
n.4670C>A
c.2869C>A (p.Pro957Thr)
c.2152C>A (p.Pro718Thr)
11g.68446445C>GCA381616792LRP5c.4498C>G (p.Pro1500Ala)
c.168C>G
c.*3104C>G (n.*3104C>G)
c.2755C>G (p.Pro919Ala)
c.4612C>G (p.Pro1538Ala)
c.4639C>G (p.Pro1547Ala)
c.4525C>G (p.Pro1509Ala)
c.4655C>G (p.Pro1552Arg)
n.4654C>G
n.4670C>G
c.2869C>G (p.Pro957Ala)
c.2152C>G (p.Pro718Ala)
11g.68446445C>TCA381616794LRP5c.4498C>T (p.Pro1500Ser)
c.168C>T
c.*3104C>T (n.*3104C>T)
c.2755C>T (p.Pro919Ser)
c.4612C>T (p.Pro1538Ser)
c.4639C>T (p.Pro1547Ser)
c.4525C>T (p.Pro1509Ser)
c.4655C>T (p.Pro1552Leu)
n.4654C>T
n.4670C>T
c.2869C>T (p.Pro957Ser)
c.2152C>T (p.Pro718Ser)
 COSMIC
11g.68446446C>ACA381616795LRP5c.4499C>A (p.Pro1500Gln)
c.169C>A
c.*3105C>A (n.*3105C>A)
c.2756C>A (p.Pro919Gln)
c.4613C>A (p.Pro1538Gln)
c.4640C>A (p.Pro1547Gln)
c.4526C>A (p.Pro1509Gln)
c.4656C>A (p.Pro1552=)
n.4655C>A
n.4671C>A
c.2870C>A (p.Pro957Gln)
c.2153C>A (p.Pro718Gln)
11g.68446446C=CA1980664415LRP5c.4499C= (p.Pro1500=)
c.169C=
c.*3105C= (n.*3105C=)
c.2756C= (p.Pro919=)
c.4613C= (p.Pro1538=)
c.4640C= (p.Pro1547=)
c.4526C= (p.Pro1509=)
c.4656C= (p.Pro1552=)
n.4655C=
n.4671C=
c.2870C= (p.Pro957=)
c.2153C= (p.Pro718=)
11g.68446446C>GCA381616798LRP5c.4499C>G (p.Pro1500Arg)
c.169C>G
c.*3105C>G (n.*3105C>G)
c.2756C>G (p.Pro919Arg)
c.4613C>G (p.Pro1538Arg)
c.4640C>G (p.Pro1547Arg)
c.4526C>G (p.Pro1509Arg)
c.4656C>G (p.Pro1552=)
n.4655C>G
n.4671C>G
c.2870C>G (p.Pro957Arg)
c.2153C>G (p.Pro718Arg)
11g.68446446C>TCA381616799LRP5c.4499C>T (p.Pro1500Leu)
c.169C>T
c.*3105C>T (n.*3105C>T)
c.2756C>T (p.Pro919Leu)
c.4613C>T (p.Pro1538Leu)
c.4640C>T (p.Pro1547Leu)
c.4526C>T (p.Pro1509Leu)
c.4656C>T (p.Pro1552=)
n.4655C>T
n.4671C>T
c.2870C>T (p.Pro957Leu)
c.2153C>T (p.Pro718Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68446447G>ACA6150414LRP5c.4500G>A (p.Pro1500=)
c.170G>A
c.*3106G>A (n.*3106G>A)
c.2757G>A (p.Pro919=)
c.4614G>A (p.Pro1538=)
c.4641G>A (p.Pro1547=)
c.4527G>A (p.Pro1509=)
c.4657G>A (p.Ala1553Thr)
n.4656G>A
n.4672G>A
c.2871G>A (p.Pro957=)
c.2154G>A (p.Pro718=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68446447G>CCA475462228LRP5c.4500G>C (p.Pro1500=)
c.170G>C
c.*3106G>C (n.*3106G>C)
c.2757G>C (p.Pro919=)
c.4614G>C (p.Pro1538=)
c.4641G>C (p.Pro1547=)
c.4527G>C (p.Pro1509=)
c.4657G>C (p.Ala1553Pro)
n.4656G>C
n.4672G>C
c.2871G>C (p.Pro957=)
c.2154G>C (p.Pro718=)
11g.68446447G=CA1980664418LRP5c.4500G= (p.Pro1500=)
c.170G=
c.*3106G= (n.*3106G=)
c.2757G= (p.Pro919=)
c.4614G= (p.Pro1538=)
c.4641G= (p.Pro1547=)
c.4527G= (p.Pro1509=)
c.4657G= (p.Ala1553=)
n.4656G=
n.4672G=
c.2871G= (p.Pro957=)
c.2154G= (p.Pro718=)
11g.68446447G>TCA475462229LRP5c.4500G>T (p.Pro1500=)
c.170G>T
c.*3106G>T (n.*3106G>T)
c.2757G>T (p.Pro919=)
c.4614G>T (p.Pro1538=)
c.4641G>T (p.Pro1547=)
c.4527G>T (p.Pro1509=)
c.4657G>T (p.Ala1553Ser)
n.4656G>T
n.4672G>T
c.2871G>T (p.Pro957=)
c.2154G>T (p.Pro718=)
 dbSNP
11g.68446448C>ACA381616802LRP5c.4501C>A (p.Pro1501Thr)
c.171C>A
c.*3107C>A (n.*3107C>A)
c.2758C>A (p.Pro920Thr)
c.4615C>A (p.Pro1539Thr)
c.4642C>A (p.Pro1548Thr)
c.4528C>A (p.Pro1510Thr)
c.4658C>A (p.Ala1553Asp)
n.4657C>A
n.4673C>A
c.2872C>A (p.Pro958Thr)
c.2155C>A (p.Pro719Thr)
11g.68446448C>GCA381616805LRP5c.4501C>G (p.Pro1501Ala)
c.171C>G
c.*3107C>G (n.*3107C>G)
c.2758C>G (p.Pro920Ala)
c.4615C>G (p.Pro1539Ala)
c.4642C>G (p.Pro1548Ala)
c.4528C>G (p.Pro1510Ala)
c.4658C>G (p.Ala1553Gly)
n.4657C>G
n.4673C>G
c.2872C>G (p.Pro958Ala)
c.2155C>G (p.Pro719Ala)
11g.68446448C>TCA381616807LRP5c.4501C>T (p.Pro1501Ser)
c.171C>T
c.*3107C>T (n.*3107C>T)
c.2758C>T (p.Pro920Ser)
c.4615C>T (p.Pro1539Ser)
c.4642C>T (p.Pro1548Ser)
c.4528C>T (p.Pro1510Ser)
c.4658C>T (p.Ala1553Val)
n.4657C>T
n.4673C>T
c.2872C>T (p.Pro958Ser)
c.2155C>T (p.Pro719Ser)
 gnomAD v4
11g.68446449C>ACA224259367LRP5c.4502C>A (p.Pro1501Gln)
c.172C>A
c.*3108C>A (n.*3108C>A)
c.2759C>A (p.Pro920Gln)
c.4616C>A (p.Pro1539Gln)
c.4643C>A (p.Pro1548Gln)
c.4529C>A (p.Pro1510Gln)
c.4659C>A (p.Ala1553=)
n.4658C>A
n.4674C>A
c.2873C>A (p.Pro958Gln)
c.2156C>A (p.Pro719Gln)
 dbSNP
11g.68446449C=CA1980664422LRP5c.4502C= (p.Pro1501=)
c.172C=
c.*3108C= (n.*3108C=)
c.2759C= (p.Pro920=)
c.4616C= (p.Pro1539=)
c.4643C= (p.Pro1548=)
c.4529C= (p.Pro1510=)
c.4659C= (p.Ala1553=)
n.4658C=
n.4674C=
c.2873C= (p.Pro958=)
c.2156C= (p.Pro719=)
11g.68446449C>GCA381616810LRP5c.4502C>G (p.Pro1501Arg)
c.172C>G
c.*3108C>G (n.*3108C>G)
c.2759C>G (p.Pro920Arg)
c.4616C>G (p.Pro1539Arg)
c.4643C>G (p.Pro1548Arg)
c.4529C>G (p.Pro1510Arg)
c.4659C>G (p.Ala1553=)
n.4658C>G
n.4674C>G
c.2873C>G (p.Pro958Arg)
c.2156C>G (p.Pro719Arg)
11g.68446449C>TCA381616812LRP5c.4502C>T (p.Pro1501Leu)
c.172C>T
c.*3108C>T (n.*3108C>T)
c.2759C>T (p.Pro920Leu)
c.4616C>T (p.Pro1539Leu)
c.4643C>T (p.Pro1548Leu)
c.4529C>T (p.Pro1510Leu)
c.4659C>T (p.Ala1553=)
n.4658C>T
n.4674C>T
c.2873C>T (p.Pro958Leu)
c.2156C>T (p.Pro719Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.68446450G>ACA6150415LRP5c.4503G>A (p.Pro1501=)
c.173G>A
c.*3109G>A (n.*3109G>A)
c.2760G>A (p.Pro920=)
c.4617G>A (p.Pro1539=)
c.4644G>A (p.Pro1548=)
c.4530G>A (p.Pro1510=)
c.4660G>A (p.Ala1554Thr)
n.4659G>A
n.4675G>A
c.2874G>A (p.Pro958=)
c.2157G>A (p.Pro719=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68446450G>CCA475462231LRP5c.4503G>C (p.Pro1501=)
c.173G>C
c.*3109G>C (n.*3109G>C)
c.2760G>C (p.Pro920=)
c.4617G>C (p.Pro1539=)
c.4644G>C (p.Pro1548=)
c.4530G>C (p.Pro1510=)
c.4660G>C (p.Ala1554Pro)
n.4659G>C
n.4675G>C
c.2874G>C (p.Pro958=)
c.2157G>C (p.Pro719=)
11g.68446450G=CA1980664426LRP5c.4503G= (p.Pro1501=)
c.173G=
c.*3109G= (n.*3109G=)
c.2760G= (p.Pro920=)
c.4617G= (p.Pro1539=)
c.4644G= (p.Pro1548=)
c.4530G= (p.Pro1510=)
c.4660G= (p.Ala1554=)
n.4659G=
n.4675G=
c.2874G= (p.Pro958=)
c.2157G= (p.Pro719=)
11g.68446450G>TCA475462232LRP5c.4503G>T (p.Pro1501=)
c.173G>T
c.*3109G>T (n.*3109G>T)
c.2760G>T (p.Pro920=)
c.4617G>T (p.Pro1539=)
c.4644G>T (p.Pro1548=)
c.4530G>T (p.Pro1510=)
c.4660G>T (p.Ala1554Ser)
n.4659G>T
n.4675G>T
c.2874G>T (p.Pro958=)
c.2157G>T (p.Pro719=)
11g.68446451C>ACA381616816LRP5c.4504C>A (p.Pro1502Thr)
c.174C>A
c.*3110C>A (n.*3110C>A)
c.2761C>A (p.Pro921Thr)
c.4618C>A (p.Pro1540Thr)
c.4645C>A (p.Pro1549Thr)
c.4531C>A (p.Pro1511Thr)
c.4661C>A (p.Ala1554Asp)
n.4660C>A
n.4676C>A
c.2875C>A (p.Pro959Thr)
c.2158C>A (p.Pro720Thr)
11g.68446451C=CA1980664432LRP5c.4504C= (p.Pro1502=)
c.174C=
c.*3110C= (n.*3110C=)
c.2761C= (p.Pro921=)
c.4618C= (p.Pro1540=)
c.4645C= (p.Pro1549=)
c.4531C= (p.Pro1511=)
c.4661C= (p.Ala1554=)
n.4660C=
n.4676C=
c.2875C= (p.Pro959=)
c.2158C= (p.Pro720=)
11g.68446451C>GCA381616818LRP5c.4504C>G (p.Pro1502Ala)
c.174C>G
c.*3110C>G (n.*3110C>G)
c.2761C>G (p.Pro921Ala)
c.4618C>G (p.Pro1540Ala)
c.4645C>G (p.Pro1549Ala)
c.4531C>G (p.Pro1511Ala)
c.4661C>G (p.Ala1554Gly)
n.4660C>G
n.4676C>G
c.2875C>G (p.Pro959Ala)
c.2158C>G (p.Pro720Ala)
11g.68446451C>TCA381616820LRP5c.4504C>T (p.Pro1502Ser)
c.174C>T
c.*3110C>T (n.*3110C>T)
c.2761C>T (p.Pro921Ser)
c.4618C>T (p.Pro1540Ser)
c.4645C>T (p.Pro1549Ser)
c.4531C>T (p.Pro1511Ser)
c.4661C>T (p.Ala1554Val)
n.4660C>T
n.4676C>T
c.2875C>T (p.Pro959Ser)
c.2158C>T (p.Pro720Ser)
 dbSNP
11g.68446452C>ACA381616823LRP5c.4505C>A (p.Pro1502His)
c.175C>A
c.*3111C>A (n.*3111C>A)
c.2762C>A (p.Pro921His)
c.4619C>A (p.Pro1540His)
c.4646C>A (p.Pro1549His)
c.4532C>A (p.Pro1511His)
c.4662C>A (p.Ala1554=)
n.4661C>A
n.4677C>A
c.2876C>A (p.Pro959His)
c.2159C>A (p.Pro720His)
11g.68446452C>GCA381616824LRP5c.4505C>G (p.Pro1502Arg)
c.175C>G
c.*3111C>G (n.*3111C>G)
c.2762C>G (p.Pro921Arg)
c.4619C>G (p.Pro1540Arg)
c.4646C>G (p.Pro1549Arg)
c.4532C>G (p.Pro1511Arg)
c.4662C>G (p.Ala1554=)
n.4661C>G
n.4677C>G
c.2876C>G (p.Pro959Arg)
c.2159C>G (p.Pro720Arg)
11g.68446452C>TCA381616826LRP5c.4505C>T (p.Pro1502Leu)
c.175C>T
c.*3111C>T (n.*3111C>T)
c.2762C>T (p.Pro921Leu)
c.4619C>T (p.Pro1540Leu)
c.4646C>T (p.Pro1549Leu)
c.4532C>T (p.Pro1511Leu)
c.4662C>T (p.Ala1554=)
n.4661C>T
n.4677C>T
c.2876C>T (p.Pro959Leu)
c.2159C>T (p.Pro720Leu)
 gnomAD v4
11g.68446453C>ACA475462234LRP5c.4506C>A (p.Pro1502=)
c.176C>A
c.*3112C>A (n.*3112C>A)
c.2763C>A (p.Pro921=)
c.4620C>A (p.Pro1540=)
c.4647C>A (p.Pro1549=)
c.4533C>A (p.Pro1511=)
c.4663C>A (p.Leu1555Ile)
n.4662C>A
n.4678C>A
c.2877C>A (p.Pro959=)
c.2160C>A (p.Pro720=)
11g.68446453C=CA1980664434LRP5c.4506C= (p.Pro1502=)
c.176C=
c.*3112C= (n.*3112C=)
c.2763C= (p.Pro921=)
c.4620C= (p.Pro1540=)
c.4647C= (p.Pro1549=)
c.4533C= (p.Pro1511=)
c.4663C= (p.Leu1555=)
n.4662C=
n.4678C=
c.2877C= (p.Pro959=)
c.2160C= (p.Pro720=)
11g.68446453C>GCA475462235LRP5c.4506C>G (p.Pro1502=)
c.176C>G
c.*3112C>G (n.*3112C>G)
c.2763C>G (p.Pro921=)
c.4620C>G (p.Pro1540=)
c.4647C>G (p.Pro1549=)
c.4533C>G (p.Pro1511=)
c.4663C>G (p.Leu1555Val)
n.4662C>G
n.4678C>G
c.2877C>G (p.Pro959=)
c.2160C>G (p.Pro720=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.68446453C>TCA475462236LRP5c.4506C>T (p.Pro1502=)
c.176C>T
c.*3112C>T (n.*3112C>T)
c.2763C>T (p.Pro921=)
c.4620C>T (p.Pro1540=)
c.4647C>T (p.Pro1549=)
c.4533C>T (p.Pro1511=)
c.4663C>T (p.Leu1555Phe)
n.4662C>T
n.4678C>T
c.2877C>T (p.Pro959=)
c.2160C>T (p.Pro720=)
 gnomAD v4
11g.68446454T>ACA381616829LRP5c.4507T>A (p.Ser1503Thr)
c.177T>A
c.*3113T>A (n.*3113T>A)
c.2764T>A (p.Ser922Thr)
c.4621T>A (p.Ser1541Thr)
c.4648T>A (p.Ser1550Thr)
c.4534T>A (p.Ser1512Thr)
c.4664T>A (p.Leu1555His)
n.4663T>A
n.4679T>A
c.2878T>A (p.Ser960Thr)
c.2161T>A (p.Ser721Thr)
11g.68446454T>CCA381616832LRP5c.4507T>C (p.Ser1503Pro)
c.177T>C
c.*3113T>C (n.*3113T>C)
c.2764T>C (p.Ser922Pro)
c.4621T>C (p.Ser1541Pro)
c.4648T>C (p.Ser1550Pro)
c.4534T>C (p.Ser1512Pro)
c.4664T>C (p.Leu1555Pro)
n.4663T>C
n.4679T>C
c.2878T>C (p.Ser960Pro)
c.2161T>C (p.Ser721Pro)
11g.68446454T>GCA381616830LRP5c.4507T>G (p.Ser1503Ala)
c.177T>G
c.*3113T>G (n.*3113T>G)
c.2764T>G (p.Ser922Ala)
c.4621T>G (p.Ser1541Ala)
c.4648T>G (p.Ser1550Ala)
c.4534T>G (p.Ser1512Ala)
c.4664T>G (p.Leu1555Arg)
n.4663T>G
n.4679T>G
c.2878T>G (p.Ser960Ala)
c.2161T>G (p.Ser721Ala)
11g.68446455C>ACA381616835LRP5c.4508C>A (p.Ser1503Tyr)
c.178C>A
c.*3114C>A (n.*3114C>A)
c.2765C>A (p.Ser922Tyr)
c.4622C>A (p.Ser1541Tyr)
c.4649C>A (p.Ser1550Tyr)
c.4535C>A (p.Ser1512Tyr)
c.4665C>A (p.Leu1555=)
n.4664C>A
n.4680C>A
c.2879C>A (p.Ser960Tyr)
c.2162C>A (p.Ser721Tyr)
11g.68446455C>GCA381616836LRP5c.4508C>G (p.Ser1503Cys)
c.178C>G
c.*3114C>G (n.*3114C>G)
c.2765C>G (p.Ser922Cys)
c.4622C>G (p.Ser1541Cys)
c.4649C>G (p.Ser1550Cys)
c.4535C>G (p.Ser1512Cys)
c.4665C>G (p.Leu1555=)
n.4664C>G
n.4680C>G
c.2879C>G (p.Ser960Cys)
c.2162C>G (p.Ser721Cys)
11g.68446455C>TCA381616837LRP5c.4508C>T (p.Ser1503Phe)
c.178C>T
c.*3114C>T (n.*3114C>T)
c.2765C>T (p.Ser922Phe)
c.4622C>T (p.Ser1541Phe)
c.4649C>T (p.Ser1550Phe)
c.4535C>T (p.Ser1512Phe)
c.4665C>T (p.Leu1555=)
n.4664C>T
n.4680C>T
c.2879C>T (p.Ser960Phe)
c.2162C>T (p.Ser721Phe)
 COSMIC
11g.68446456C>ACA475462238LRP5c.4509C>A (p.Ser1503=)
c.179C>A
c.*3115C>A (n.*3115C>A)
c.2766C>A (p.Ser922=)
c.4623C>A (p.Ser1541=)
c.4650C>A (p.Ser1550=)
c.4536C>A (p.Ser1512=)
c.4666C>A (p.Pro1556Thr)
n.4665C>A
n.4681C>A
c.2880C>A (p.Ser960=)
c.2163C>A (p.Ser721=)
 gnomAD v4
11g.68446456C>GCA475462237LRP5c.4509C>G (p.Ser1503=)
c.179C>G
c.*3115C>G (n.*3115C>G)
c.2766C>G (p.Ser922=)
c.4623C>G (p.Ser1541=)
c.4650C>G (p.Ser1550=)
c.4536C>G (p.Ser1512=)
c.4666C>G (p.Pro1556Ala)
n.4665C>G
n.4681C>G
c.2880C>G (p.Ser960=)
c.2163C>G (p.Ser721=)
11g.68446456C>TCA475462240LRP5c.4509C>T (p.Ser1503=)
c.179C>T
c.*3115C>T (n.*3115C>T)
c.2766C>T (p.Ser922=)
c.4623C>T (p.Ser1541=)
c.4650C>T (p.Ser1550=)
c.4536C>T (p.Ser1512=)
c.4666C>T (p.Pro1556Ser)
n.4665C>T
n.4681C>T
c.2880C>T (p.Ser960=)
c.2163C>T (p.Ser721=)
 gnomAD v4
11g.68446457C>ACA381616838LRP5c.4510C>A (p.Pro1504Thr)
c.180C>A
c.*3116C>A (n.*3116C>A)
c.2767C>A (p.Pro923Thr)
c.4624C>A (p.Pro1542Thr)
c.4651C>A (p.Pro1551Thr)
c.4537C>A (p.Pro1513Thr)
c.4667C>A (p.Pro1556His)
n.4666C>A
n.4682C>A
c.2881C>A (p.Pro961Thr)
c.2164C>A (p.Pro722Thr)
11g.68446457C>GCA381616840LRP5c.4510C>G (p.Pro1504Ala)
c.180C>G
c.*3116C>G (n.*3116C>G)
c.2767C>G (p.Pro923Ala)
c.4624C>G (p.Pro1542Ala)
c.4651C>G (p.Pro1551Ala)
c.4537C>G (p.Pro1513Ala)
c.4667C>G (p.Pro1556Arg)
n.4666C>G
n.4682C>G
c.2881C>G (p.Pro961Ala)
c.2164C>G (p.Pro722Ala)
11g.68446457C>TCA381616842LRP5c.4510C>T (p.Pro1504Ser)
c.180C>T
c.*3116C>T (n.*3116C>T)
c.2767C>T (p.Pro923Ser)
c.4624C>T (p.Pro1542Ser)
c.4651C>T (p.Pro1551Ser)
c.4537C>T (p.Pro1513Ser)
c.4667C>T (p.Pro1556Leu)
n.4666C>T
n.4682C>T
c.2881C>T (p.Pro961Ser)
c.2164C>T (p.Pro722Ser)
 gnomAD v4
11g.68446458C>ACA381616844LRP5c.4511C>A (p.Pro1504Gln)
c.181C>A
c.*3117C>A (n.*3117C>A)
c.2768C>A (p.Pro923Gln)
c.4625C>A (p.Pro1542Gln)
c.4652C>A (p.Pro1551Gln)
c.4538C>A (p.Pro1513Gln)
c.4668C>A (p.Pro1556=)
n.4667C>A
n.4683C>A
c.2882C>A (p.Pro961Gln)
c.2165C>A (p.Pro722Gln)
11g.68446458C=CA1980664435LRP5c.4511C= (p.Pro1504=)
c.181C=
c.*3117C= (n.*3117C=)
c.2768C= (p.Pro923=)
c.4625C= (p.Pro1542=)
c.4652C= (p.Pro1551=)
c.4538C= (p.Pro1513=)
c.4668C= (p.Pro1556=)
n.4667C=
n.4683C=
c.2882C= (p.Pro961=)
c.2165C= (p.Pro722=)
11g.68446458C>GCA381616846LRP5c.4511C>G (p.Pro1504Arg)
c.181C>G
c.*3117C>G (n.*3117C>G)
c.2768C>G (p.Pro923Arg)
c.4625C>G (p.Pro1542Arg)
c.4652C>G (p.Pro1551Arg)
c.4538C>G (p.Pro1513Arg)
c.4668C>G (p.Pro1556=)
n.4667C>G
n.4683C>G
c.2882C>G (p.Pro961Arg)
c.2165C>G (p.Pro722Arg)
11g.68446458C>TCA6150416LRP5c.4511C>T (p.Pro1504Leu)
c.181C>T
c.*3117C>T (n.*3117C>T)
c.2768C>T (p.Pro923Leu)
c.4625C>T (p.Pro1542Leu)
c.4652C>T (p.Pro1551Leu)
c.4538C>T (p.Pro1513Leu)
c.4668C>T (p.Pro1556=)
n.4667C>T
n.4683C>T
c.2882C>T (p.Pro961Leu)
c.2165C>T (p.Pro722Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68446459G>ACA6150417LRP5c.4512G>A (p.Pro1504=)
c.182G>A
c.*3118G>A (n.*3118G>A)
c.2769G>A (p.Pro923=)
c.4626G>A (p.Pro1542=)
c.4653G>A (p.Pro1551=)
c.4539G>A (p.Pro1513=)
c.4669G>A (p.Gly1557Ser)
n.4668G>A
n.4684G>A
c.2883G>A (p.Pro961=)
c.2166G>A (p.Pro722=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68446459G>CCA475462244LRP5c.4512G>C (p.Pro1504=)
c.182G>C
c.*3118G>C (n.*3118G>C)
c.2769G>C (p.Pro923=)
c.4626G>C (p.Pro1542=)
c.4653G>C (p.Pro1551=)
c.4539G>C (p.Pro1513=)
c.4669G>C (p.Gly1557Arg)
n.4668G>C
n.4684G>C
c.2883G>C (p.Pro961=)
c.2166G>C (p.Pro722=)
11g.68446459G=CA1980664436LRP5c.4512G= (p.Pro1504=)
c.182G=
c.*3118G= (n.*3118G=)
c.2769G= (p.Pro923=)
c.4626G= (p.Pro1542=)
c.4653G= (p.Pro1551=)
c.4539G= (p.Pro1513=)
c.4669G= (p.Gly1557=)
n.4668G=
n.4684G=
c.2883G= (p.Pro961=)
c.2166G= (p.Pro722=)
11g.68446459G>TCA475462246LRP5c.4512G>T (p.Pro1504=)
c.182G>T
c.*3118G>T (n.*3118G>T)
c.2769G>T (p.Pro923=)
c.4626G>T (p.Pro1542=)
c.4653G>T (p.Pro1551=)
c.4539G>T (p.Pro1513=)
c.4669G>T (p.Gly1557Cys)
n.4668G>T
n.4684G>T
c.2883G>T (p.Pro961=)
c.2166G>T (p.Pro722=)
11g.68446459_68446464delinsTGTACAACATCA2695214935LRP5c.4512_4517delinsTGTACAACAT (p.Ala1505ValfsTer?)
c.182_187delinsTGTACAACAT
c.*3118_*3123delinsTGTACAACAT (n.*3118_*3123delinsTGTACAACAT)
c.2769_2774delinsTGTACAACAT (p.Ala924ValfsTer?)
c.4626_4631delinsTGTACAACAT (p.Ala1543ValfsTer?)
c.4653_4658delinsTGTACAACAT (p.Ala1552ValfsTer?)
c.4539_4544delinsTGTACAACAT (p.Ala1514ValfsTer?)
c.4669_4674delinsTGTACAACAT (p.Gly1557CysfsTer?)
n.4668_4673delinsTGTACAACAT
n.4684_4689delinsTGTACAACAT
c.2883_2888delinsTGTACAACAT (p.Ala962ValfsTer?)
c.2166_2171delinsTGTACAACAT (p.Ala723ValfsTer?)
11g.68446460G>ACA381616850LRP5c.4513G>A (p.Ala1505Thr)
c.183G>A
c.*3119G>A (n.*3119G>A)
c.2770G>A (p.Ala924Thr)
c.4627G>A (p.Ala1543Thr)
c.4654G>A (p.Ala1552Thr)
c.4540G>A (p.Ala1514Thr)
c.4670G>A (p.Gly1557Asp)
n.4669G>A
n.4685G>A
c.2884G>A (p.Ala962Thr)
c.2167G>A (p.Ala723Thr)
 gnomAD v4
11g.68446460G>CCA381616852LRP5c.4513G>C (p.Ala1505Pro)
c.183G>C
c.*3119G>C (n.*3119G>C)
c.2770G>C (p.Ala924Pro)
c.4627G>C (p.Ala1543Pro)
c.4654G>C (p.Ala1552Pro)
c.4540G>C (p.Ala1514Pro)
c.4670G>C (p.Gly1557Ala)
n.4669G>C
n.4685G>C
c.2884G>C (p.Ala962Pro)
c.2167G>C (p.Ala723Pro)
11g.68446460G>TCA381616854LRP5c.4513G>T (p.Ala1505Ser)
c.183G>T
c.*3119G>T (n.*3119G>T)
c.2770G>T (p.Ala924Ser)
c.4627G>T (p.Ala1543Ser)
c.4654G>T (p.Ala1552Ser)
c.4540G>T (p.Ala1514Ser)
c.4670G>T (p.Gly1557Val)
n.4669G>T
n.4685G>T
c.2884G>T (p.Ala962Ser)
c.2167G>T (p.Ala723Ser)
11g.68446461C>ACA381616857LRP5c.4514C>A (p.Ala1505Asp)
c.184C>A
c.*3120C>A (n.*3120C>A)
c.2771C>A (p.Ala924Asp)
c.4628C>A (p.Ala1543Asp)
c.4655C>A (p.Ala1552Asp)
c.4541C>A (p.Ala1514Asp)
c.4671C>A (p.Gly1557=)
n.4670C>A
n.4686C>A
c.2885C>A (p.Ala962Asp)
c.2168C>A (p.Ala723Asp)
 gnomAD v4
11g.68446461C>GCA381616861LRP5c.4514C>G (p.Ala1505Gly)
c.184C>G
c.*3120C>G (n.*3120C>G)
c.2771C>G (p.Ala924Gly)
c.4628C>G (p.Ala1543Gly)
c.4655C>G (p.Ala1552Gly)
c.4541C>G (p.Ala1514Gly)
c.4671C>G (p.Gly1557=)
n.4670C>G
n.4686C>G
c.2885C>G (p.Ala962Gly)
c.2168C>G (p.Ala723Gly)
11g.68446461C>TCA381616859LRP5c.4514C>T (p.Ala1505Val)
c.184C>T
c.*3120C>T (n.*3120C>T)
c.2771C>T (p.Ala924Val)
c.4628C>T (p.Ala1543Val)
c.4655C>T (p.Ala1552Val)
c.4541C>T (p.Ala1514Val)
c.4671C>T (p.Gly1557=)
n.4670C>T
n.4686C>T
c.2885C>T (p.Ala962Val)
c.2168C>T (p.Ala723Val)
11g.68446461_68446467delinsCCACGGACA1980664437LRP5c.4514_4520delinsCCACGGA (p.Ala1505=)
c.184_190delinsCCACGGA
c.*3120_*3126delinsCCACGGA (n.*3120_*3126delinsCCACGGA)
c.2771_2777delinsCCACGGA (p.Ala924=)
c.4628_4634delinsCCACGGA (p.Ala1543=)
c.4655_4661delinsCCACGGA (p.Ala1552=)
c.4541_4547delinsCCACGGA (p.Ala1514=)
c.4671_4677delinsCCACGGA (p.Gly1557=)
n.4670_4676delinsCCACGGA
n.4686_4692delinsCCACGGA
c.2885_2891delinsCCACGGA (p.Ala962=)
c.2168_2174delinsCCACGGA (p.Ala723=)
11g.68446462C>ACA475462248LRP5c.4515C>A (p.Ala1505=)
c.185C>A
c.*3121C>A (n.*3121C>A)
c.2772C>A (p.Ala924=)
c.4629C>A (p.Ala1543=)
c.4656C>A (p.Ala1552=)
c.4542C>A (p.Ala1514=)
c.4672C>A (p.His1558Asn)
n.4671C>A
n.4687C>A
c.2886C>A (p.Ala962=)
c.2169C>A (p.Ala723=)
 dbSNP
11g.68446462C>GCA475462249LRP5c.4515C>G (p.Ala1505=)
c.185C>G
c.*3121C>G (n.*3121C>G)
c.2772C>G (p.Ala924=)
c.4629C>G (p.Ala1543=)
c.4656C>G (p.Ala1552=)
c.4542C>G (p.Ala1514=)
c.4672C>G (p.His1558Asp)
n.4671C>G
n.4687C>G
c.2886C>G (p.Ala962=)
c.2169C>G (p.Ala723=)
11g.68446462C>TCA475462250LRP5c.4515C>T (p.Ala1505=)
c.185C>T
c.*3121C>T (n.*3121C>T)
c.2772C>T (p.Ala924=)
c.4629C>T (p.Ala1543=)
c.4656C>T (p.Ala1552=)
c.4542C>T (p.Ala1514=)
c.4672C>T (p.His1558Tyr)
n.4671C>T
n.4687C>T
c.2886C>T (p.Ala962=)
c.2169C>T (p.Ala723=)
11g.68446463_68446468delCA1980664438LRP5c.4516_4521del (p.Thr1506_Asp1507del)
c.186_191del
c.*3122_*3127del (n.*3122_*3127del)
c.2773_2778del (p.Thr925_Asp926del)
c.4630_4635del (p.Thr1544_Asp1545del)
c.4657_4662del (p.Thr1553_Asp1554del)
c.4543_4548del (p.Thr1515_Asp1516del)
c.4673_4678del (p.His1558_Gly1559del)
n.4672_4677del
n.4688_4693del
c.2887_2892del (p.Thr963_Asp964del)
c.2170_2175del (p.Thr724_Asp725del)
 ClinVar dbSNP gnomAD v4
11g.68446463A>CCA381616862LRP5c.4516A>C (p.Thr1506Pro)
c.186A>C
c.*3122A>C (n.*3122A>C)
c.2773A>C (p.Thr925Pro)
c.4630A>C (p.Thr1544Pro)
c.4657A>C (p.Thr1553Pro)
c.4543A>C (p.Thr1515Pro)
c.4673A>C (p.His1558Pro)
n.4672A>C
n.4688A>C
c.2887A>C (p.Thr963Pro)
c.2170A>C (p.Thr724Pro)
11g.68446463A>GCA381616865LRP5c.4516A>G (p.Thr1506Ala)
c.186A>G
c.*3122A>G (n.*3122A>G)
c.2773A>G (p.Thr925Ala)
c.4630A>G (p.Thr1544Ala)
c.4657A>G (p.Thr1553Ala)
c.4543A>G (p.Thr1515Ala)
c.4673A>G (p.His1558Arg)
n.4672A>G
n.4688A>G
c.2887A>G (p.Thr963Ala)
c.2170A>G (p.Thr724Ala)
11g.68446463A>TCA381616867LRP5c.4516A>T (p.Thr1506Ser)
c.186A>T
c.*3122A>T (n.*3122A>T)
c.2773A>T (p.Thr925Ser)
c.4630A>T (p.Thr1544Ser)
c.4657A>T (p.Thr1553Ser)
c.4543A>T (p.Thr1515Ser)
c.4673A>T (p.His1558Leu)
n.4672A>T
n.4688A>T
c.2887A>T (p.Thr963Ser)
c.2170A>T (p.Thr724Ser)
11g.68446464C>ACA381616868LRP5c.4517C>A (p.Thr1506Lys)
c.187C>A
c.*3123C>A (n.*3123C>A)
c.2774C>A (p.Thr925Lys)
c.4631C>A (p.Thr1544Lys)
c.4658C>A (p.Thr1553Lys)
c.4544C>A (p.Thr1515Lys)
c.4674C>A (p.His1558Gln)
n.4673C>A
n.4689C>A
c.2888C>A (p.Thr963Lys)
c.2171C>A (p.Thr724Lys)
11g.68446464C=CA1980664439LRP5c.4517C= (p.Thr1506=)
c.187C=
c.*3123C= (n.*3123C=)
c.2774C= (p.Thr925=)
c.4631C= (p.Thr1544=)
c.4658C= (p.Thr1553=)
c.4544C= (p.Thr1515=)
c.4674C= (p.His1558=)
n.4673C=
n.4689C=
c.2888C= (p.Thr963=)
c.2171C= (p.Thr724=)
11g.68446464C>GCA381616870LRP5c.4517C>G (p.Thr1506Arg)
c.187C>G
c.*3123C>G (n.*3123C>G)
c.2774C>G (p.Thr925Arg)
c.4631C>G (p.Thr1544Arg)
c.4658C>G (p.Thr1553Arg)
c.4544C>G (p.Thr1515Arg)
c.4674C>G (p.His1558Gln)
n.4673C>G
n.4689C>G
c.2888C>G (p.Thr963Arg)
c.2171C>G (p.Thr724Arg)
11g.68446464C>TCA6150418LRP5c.4517C>T (p.Thr1506Met)
c.187C>T
c.*3123C>T (n.*3123C>T)
c.2774C>T (p.Thr925Met)
c.4631C>T (p.Thr1544Met)
c.4658C>T (p.Thr1553Met)
c.4544C>T (p.Thr1515Met)
c.4674C>T (p.His1558=)
n.4673C>T
n.4689C>T
c.2888C>T (p.Thr963Met)
c.2171C>T (p.Thr724Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68446465G>ACA6150419LRP5c.4518G>A (p.Thr1506=)
c.188G>A
c.*3124G>A (n.*3124G>A)
c.2775G>A (p.Thr925=)
c.4632G>A (p.Thr1544=)
c.4659G>A (p.Thr1553=)
c.4545G>A (p.Thr1515=)
c.4675G>A (p.Gly1559Arg)
n.4674G>A
n.4690G>A
c.2889G>A (p.Thr963=)
c.2172G>A (p.Thr724=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68446465G>CCA475462252LRP5c.4518G>C (p.Thr1506=)
c.188G>C
c.*3124G>C (n.*3124G>C)
c.2775G>C (p.Thr925=)
c.4632G>C (p.Thr1544=)
c.4659G>C (p.Thr1553=)
c.4545G>C (p.Thr1515=)
c.4675G>C (p.Gly1559Arg)
n.4674G>C
n.4690G>C
c.2889G>C (p.Thr963=)
c.2172G>C (p.Thr724=)
11g.68446465G=CA1980664442LRP5c.4518G= (p.Thr1506=)
c.188G=
c.*3124G= (n.*3124G=)
c.2775G= (p.Thr925=)
c.4632G= (p.Thr1544=)
c.4659G= (p.Thr1553=)
c.4545G= (p.Thr1515=)
c.4675G= (p.Gly1559=)
n.4674G=
n.4690G=
c.2889G= (p.Thr963=)
c.2172G= (p.Thr724=)
11g.68446465G>TCA475462253LRP5c.4518G>T (p.Thr1506=)
c.188G>T
c.*3124G>T (n.*3124G>T)
c.2775G>T (p.Thr925=)
c.4632G>T (p.Thr1544=)
c.4659G>T (p.Thr1553=)
c.4545G>T (p.Thr1515=)
c.4675G>T (p.Gly1559Ter)
n.4674G>T
n.4690G>T
c.2889G>T (p.Thr963=)
c.2172G>T (p.Thr724=)
 COSMIC
11g.68446466G>ACA381616874LRP5c.4519G>A (p.Asp1507Asn)
c.189G>A
c.*3125G>A (n.*3125G>A)
c.2776G>A (p.Asp926Asn)
c.4633G>A (p.Asp1545Asn)
c.4660G>A (p.Asp1554Asn)
c.4546G>A (p.Asp1516Asn)
c.4676G>A (p.Gly1559Glu)
n.4675G>A
n.4691G>A
c.2890G>A (p.Asp964Asn)
c.2173G>A (p.Asp725Asn)
11g.68446466G>CCA381616875LRP5c.4519G>C (p.Asp1507His)
c.189G>C
c.*3125G>C (n.*3125G>C)
c.2776G>C (p.Asp926His)
c.4633G>C (p.Asp1545His)
c.4660G>C (p.Asp1554His)
c.4546G>C (p.Asp1516His)
c.4676G>C (p.Gly1559Ala)
n.4675G>C
n.4691G>C
c.2890G>C (p.Asp964His)
c.2173G>C (p.Asp725His)
11g.68446466G>TCA381616876LRP5c.4519G>T (p.Asp1507Tyr)
c.189G>T
c.*3125G>T (n.*3125G>T)
c.2776G>T (p.Asp926Tyr)
c.4633G>T (p.Asp1545Tyr)
c.4660G>T (p.Asp1554Tyr)
c.4546G>T (p.Asp1516Tyr)
c.4676G>T (p.Gly1559Val)
n.4675G>T
n.4691G>T
c.2890G>T (p.Asp964Tyr)
c.2173G>T (p.Asp725Tyr)
11g.68446467A>CCA381616883LRP5c.4520A>C (p.Asp1507Ala)
c.190A>C
c.*3126A>C (n.*3126A>C)
c.2777A>C (p.Asp926Ala)
c.4634A>C (p.Asp1545Ala)
c.4661A>C (p.Asp1554Ala)
c.4547A>C (p.Asp1516Ala)
c.4677A>C (p.Gly1559=)
n.4676A>C
n.4692A>C
c.2891A>C (p.Asp964Ala)
c.2174A>C (p.Asp725Ala)
11g.68446467A>GCA381616881LRP5c.4520A>G (p.Asp1507Gly)
c.190A>G
c.*3126A>G (n.*3126A>G)
c.2777A>G (p.Asp926Gly)
c.4634A>G (p.Asp1545Gly)
c.4661A>G (p.Asp1554Gly)
c.4547A>G (p.Asp1516Gly)
c.4677A>G (p.Gly1559=)
n.4676A>G
n.4692A>G
c.2891A>G (p.Asp964Gly)
c.2174A>G (p.Asp725Gly)
11g.68446467A>TCA381616879LRP5c.4520A>T (p.Asp1507Val)
c.190A>T
c.*3126A>T (n.*3126A>T)
c.2777A>T (p.Asp926Val)
c.4634A>T (p.Asp1545Val)
c.4661A>T (p.Asp1554Val)
c.4547A>T (p.Asp1516Val)
c.4677A>T (p.Gly1559=)
n.4676A>T
n.4692A>T
c.2891A>T (p.Asp964Val)
c.2174A>T (p.Asp725Val)
11g.68446468C>ACA381616885LRP5c.4521C>A (p.Asp1507Glu)
c.191C>A
c.*3127C>A (n.*3127C>A)
c.2778C>A (p.Asp926Glu)
c.4635C>A (p.Asp1545Glu)
c.4662C>A (p.Asp1554Glu)
c.4548C>A (p.Asp1516Glu)
c.4678C>A (p.Pro1560Thr)
n.4677C>A
n.4693C>A
c.2892C>A (p.Asp964Glu)
c.2175C>A (p.Asp725Glu)
11g.68446468C=CA1980664445LRP5c.4521C= (p.Asp1507=)
c.191C=
c.*3127C= (n.*3127C=)
c.2778C= (p.Asp926=)
c.4635C= (p.Asp1545=)
c.4662C= (p.Asp1554=)
c.4548C= (p.Asp1516=)
c.4678C= (p.Pro1560=)
n.4677C=
n.4693C=
c.2892C= (p.Asp964=)
c.2175C= (p.Asp725=)
11g.68446468C>GCA381616887LRP5c.4521C>G (p.Asp1507Glu)
c.191C>G
c.*3127C>G (n.*3127C>G)
c.2778C>G (p.Asp926Glu)
c.4635C>G (p.Asp1545Glu)
c.4662C>G (p.Asp1554Glu)
c.4548C>G (p.Asp1516Glu)
c.4678C>G (p.Pro1560Ala)
n.4677C>G
n.4693C>G
c.2892C>G (p.Asp964Glu)
c.2175C>G (p.Asp725Glu)
11g.68446468C>TCA475462255LRP5c.4521C>T (p.Asp1507=)
c.191C>T
c.*3127C>T (n.*3127C>T)
c.2778C>T (p.Asp926=)
c.4635C>T (p.Asp1545=)
c.4662C>T (p.Asp1554=)
c.4548C>T (p.Asp1516=)
c.4678C>T (p.Pro1560Ser)
n.4677C>T
n.4693C>T
c.2892C>T (p.Asp964=)
c.2175C>T (p.Asp725=)
 dbSNP gnomAD v2 gnomAD v4
11g.68446469C>ACA381616889LRP5c.4522C>A (p.Pro1508Thr)
c.192C>A
c.*3128C>A (n.*3128C>A)
c.2779C>A (p.Pro927Thr)
c.4636C>A (p.Pro1546Thr)
c.4663C>A (p.Pro1555Thr)
c.4549C>A (p.Pro1517Thr)
c.4679C>A (p.Pro1560His)
n.4678C>A
n.4694C>A
c.2893C>A (p.Pro965Thr)
c.2176C>A (p.Pro726Thr)
11g.68446469C=CA1980664454LRP5c.4522C= (p.Pro1508=)
c.192C=
c.*3128C= (n.*3128C=)
c.2779C= (p.Pro927=)
c.4636C= (p.Pro1546=)
c.4663C= (p.Pro1555=)
c.4549C= (p.Pro1517=)
c.4679C= (p.Pro1560=)
n.4678C=
n.4694C=
c.2893C= (p.Pro965=)
c.2176C= (p.Pro726=)
11g.68446469C>GCA381616891LRP5c.4522C>G (p.Pro1508Ala)
c.192C>G
c.*3128C>G (n.*3128C>G)
c.2779C>G (p.Pro927Ala)
c.4636C>G (p.Pro1546Ala)
c.4663C>G (p.Pro1555Ala)
c.4549C>G (p.Pro1517Ala)
c.4679C>G (p.Pro1560Arg)
n.4678C>G
n.4694C>G
c.2893C>G (p.Pro965Ala)
c.2176C>G (p.Pro726Ala)
 dbSNP gnomAD v4
11g.68446469C>TCA224259397LRP5c.4522C>T (p.Pro1508Ser)
c.192C>T
c.*3128C>T (n.*3128C>T)
c.2779C>T (p.Pro927Ser)
c.4636C>T (p.Pro1546Ser)
c.4663C>T (p.Pro1555Ser)
c.4549C>T (p.Pro1517Ser)
c.4679C>T (p.Pro1560Leu)
n.4678C>T
n.4694C>T
c.2893C>T (p.Pro965Ser)
c.2176C>T (p.Pro726Ser)
 ClinVar dbSNP gnomAD v4
11g.68446470C>ACA381616894LRP5c.4523C>A (p.Pro1508His)
c.193C>A
c.*3129C>A (n.*3129C>A)
c.2780C>A (p.Pro927His)
c.4637C>A (p.Pro1546His)
c.4664C>A (p.Pro1555His)
c.4550C>A (p.Pro1517His)
c.4680C>A (p.Pro1560=)
n.4679C>A
n.4695C>A
c.2894C>A (p.Pro965His)
c.2177C>A (p.Pro726His)
 gnomAD v4
11g.68446470C=CA1980664457LRP5c.4523C= (p.Pro1508=)
c.193C=
c.*3129C= (n.*3129C=)
c.2780C= (p.Pro927=)
c.4637C= (p.Pro1546=)
c.4664C= (p.Pro1555=)
c.4550C= (p.Pro1517=)
c.4680C= (p.Pro1560=)
n.4679C=
n.4695C=
c.2894C= (p.Pro965=)
c.2177C= (p.Pro726=)
11g.68446470C>GCA381616896LRP5c.4523C>G (p.Pro1508Arg)
c.193C>G
c.*3129C>G (n.*3129C>G)
c.2780C>G (p.Pro927Arg)
c.4637C>G (p.Pro1546Arg)
c.4664C>G (p.Pro1555Arg)
c.4550C>G (p.Pro1517Arg)
c.4680C>G (p.Pro1560=)
n.4679C>G
n.4695C>G
c.2894C>G (p.Pro965Arg)
c.2177C>G (p.Pro726Arg)
11g.68446470C>TCA381616897LRP5c.4523C>T (p.Pro1508Leu)
c.193C>T
c.*3129C>T (n.*3129C>T)
c.2780C>T (p.Pro927Leu)
c.4637C>T (p.Pro1546Leu)
c.4664C>T (p.Pro1555Leu)
c.4550C>T (p.Pro1517Leu)
c.4680C>T (p.Pro1560=)
n.4679C>T
n.4695C>T
c.2894C>T (p.Pro965Leu)
c.2177C>T (p.Pro726Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.68446471C>ACA475462258LRP5c.4524C>A (p.Pro1508=)
c.194C>A
c.*3130C>A (n.*3130C>A)
c.2781C>A (p.Pro927=)
c.4638C>A (p.Pro1546=)
c.4665C>A (p.Pro1555=)
c.4551C>A (p.Pro1517=)
c.4681C>A (p.Leu1561Ile)
n.4680C>A
n.4696C>A
c.2895C>A (p.Pro965=)
c.2178C>A (p.Pro726=)
11g.68446471C=CA1980664460LRP5c.4524C= (p.Pro1508=)
c.194C=
c.*3130C= (n.*3130C=)
c.2781C= (p.Pro927=)
c.4638C= (p.Pro1546=)
c.4665C= (p.Pro1555=)
c.4551C= (p.Pro1517=)
c.4681C= (p.Leu1561=)
n.4680C=
n.4696C=
c.2895C= (p.Pro965=)
c.2178C= (p.Pro726=)
11g.68446471C>GCA475462257LRP5c.4524C>G (p.Pro1508=)
c.194C>G
c.*3130C>G (n.*3130C>G)
c.2781C>G (p.Pro927=)
c.4638C>G (p.Pro1546=)
c.4665C>G (p.Pro1555=)
c.4551C>G (p.Pro1517=)
c.4681C>G (p.Leu1561Val)
n.4680C>G
n.4696C>G
c.2895C>G (p.Pro965=)
c.2178C>G (p.Pro726=)
11g.68446471C>TCA475462256LRP5c.4524C>T (p.Pro1508=)
c.194C>T
c.*3130C>T (n.*3130C>T)
c.2781C>T (p.Pro927=)
c.4638C>T (p.Pro1546=)
c.4665C>T (p.Pro1555=)
c.4551C>T (p.Pro1517=)
c.4681C>T (p.Leu1561Phe)
n.4680C>T
n.4696C>T
c.2895C>T (p.Pro965=)
c.2178C>T (p.Pro726=)
 dbSNP gnomAD v2 gnomAD v4
11g.68446472T>ACA381616900LRP5c.4525T>A (p.Ser1509Thr)
c.195T>A
c.*3131T>A (n.*3131T>A)
c.2782T>A (p.Ser928Thr)
c.4639T>A (p.Ser1547Thr)
c.4666T>A (p.Ser1556Thr)
c.4552T>A (p.Ser1518Thr)
c.4682T>A (p.Leu1561His)
n.4681T>A
n.4697T>A
c.2896T>A (p.Ser966Thr)
c.2179T>A (p.Ser727Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.68446472T>CCA381616902LRP5c.4525T>C (p.Ser1509Pro)
c.195T>C
c.*3131T>C (n.*3131T>C)
c.2782T>C (p.Ser928Pro)
c.4639T>C (p.Ser1547Pro)
c.4666T>C (p.Ser1556Pro)
c.4552T>C (p.Ser1518Pro)
c.4682T>C (p.Leu1561Pro)
n.4681T>C
n.4697T>C
c.2896T>C (p.Ser966Pro)
c.2179T>C (p.Ser727Pro)
11g.68446472T>GCA381616904LRP5c.4525T>G (p.Ser1509Ala)
c.195T>G
c.*3131T>G (n.*3131T>G)
c.2782T>G (p.Ser928Ala)
c.4639T>G (p.Ser1547Ala)
c.4666T>G (p.Ser1556Ala)
c.4552T>G (p.Ser1518Ala)
c.4682T>G (p.Leu1561Arg)
n.4681T>G
n.4697T>G
c.2896T>G (p.Ser966Ala)
c.2179T>G (p.Ser727Ala)
11g.68446472T=CA1980664463LRP5c.4525T= (p.Ser1509=)
c.195T=
c.*3131T= (n.*3131T=)
c.2782T= (p.Ser928=)
c.4639T= (p.Ser1547=)
c.4666T= (p.Ser1556=)
c.4552T= (p.Ser1518=)
c.4682T= (p.Leu1561=)
n.4681T=
n.4697T=
c.2896T= (p.Ser966=)
c.2179T= (p.Ser727=)
11g.68446473C>ACA381616906LRP5c.4526C>A (p.Ser1509Tyr)
c.196C>A
c.*3132C>A (n.*3132C>A)
c.2783C>A (p.Ser928Tyr)
c.4640C>A (p.Ser1547Tyr)
c.4667C>A (p.Ser1556Tyr)
c.4553C>A (p.Ser1518Tyr)
c.4683C>A (p.Leu1561=)
n.4682C>A
n.4698C>A
c.2897C>A (p.Ser966Tyr)
c.2180C>A (p.Ser727Tyr)
11g.68446473C>GCA381616908LRP5c.4526C>G (p.Ser1509Cys)
c.196C>G
c.*3132C>G (n.*3132C>G)
c.2783C>G (p.Ser928Cys)
c.4640C>G (p.Ser1547Cys)
c.4667C>G (p.Ser1556Cys)
c.4553C>G (p.Ser1518Cys)
c.4683C>G (p.Leu1561=)
n.4682C>G
n.4698C>G
c.2897C>G (p.Ser966Cys)
c.2180C>G (p.Ser727Cys)
11g.68446473C>TCA381616910LRP5c.4526C>T (p.Ser1509Phe)
c.196C>T
c.*3132C>T (n.*3132C>T)
c.2783C>T (p.Ser928Phe)
c.4640C>T (p.Ser1547Phe)
c.4667C>T (p.Ser1556Phe)
c.4553C>T (p.Ser1518Phe)
c.4683C>T (p.Leu1561=)
n.4682C>T
n.4698C>T
c.2897C>T (p.Ser966Phe)
c.2180C>T (p.Ser727Phe)
11g.68446475dupCA224259404LRP5c.4528dup (p.Leu1510ProfsTer?)
c.198dup
c.*3134dup (n.*3134dup)
c.2785dup (p.Leu929ProfsTer?)
c.4642dup (p.Leu1548ProfsTer?)
c.4669dup (p.Leu1557ProfsTer?)
c.4555dup (p.Leu1519ProfsTer?)
c.4685dup (p.Val1563CysfsTer?)
n.4684dup
n.4700dup
c.2899dup (p.Leu967ProfsTer?)
c.2182dup (p.Leu728ProfsTer?)
 dbSNP
11g.68446474C>ACA475462261LRP5c.4527C>A (p.Ser1509=)
c.197C>A
c.*3133C>A (n.*3133C>A)
c.2784C>A (p.Ser928=)
c.4641C>A (p.Ser1547=)
c.4668C>A (p.Ser1556=)
c.4554C>A (p.Ser1518=)
c.4684C>A (p.Pro1562Thr)
n.4683C>A
n.4699C>A
c.2898C>A (p.Ser966=)
c.2181C>A (p.Ser727=)
11g.68446474C=CA1980664471LRP5c.4527C= (p.Ser1509=)
c.197C=
c.*3133C= (n.*3133C=)
c.2784C= (p.Ser928=)
c.4641C= (p.Ser1547=)
c.4668C= (p.Ser1556=)
c.4554C= (p.Ser1518=)
c.4684C= (p.Pro1562=)
n.4683C=
n.4699C=
c.2898C= (p.Ser966=)
c.2181C= (p.Ser727=)
11g.68446474C>GCA475462262LRP5c.4527C>G (p.Ser1509=)
c.197C>G
c.*3133C>G (n.*3133C>G)
c.2784C>G (p.Ser928=)
c.4641C>G (p.Ser1547=)
c.4668C>G (p.Ser1556=)
c.4554C>G (p.Ser1518=)
c.4684C>G (p.Pro1562Ala)
n.4683C>G
n.4699C>G
c.2898C>G (p.Ser966=)
c.2181C>G (p.Ser727=)
11g.68446474C>TCA475462263LRP5c.4527C>T (p.Ser1509=)
c.197C>T
c.*3133C>T (n.*3133C>T)
c.2784C>T (p.Ser928=)
c.4641C>T (p.Ser1547=)
c.4668C>T (p.Ser1556=)
c.4554C>T (p.Ser1518=)
c.4684C>T (p.Pro1562Ser)
n.4683C>T
n.4699C>T
c.2898C>T (p.Ser966=)
c.2181C>T (p.Ser727=)
 dbSNP gnomAD v2
11g.68446475C>ACA381616913LRP5c.4528C>A (p.Leu1510Met)
c.198C>A
c.*3134C>A (n.*3134C>A)
c.2785C>A (p.Leu929Met)
c.4642C>A (p.Leu1548Met)
c.4669C>A (p.Leu1557Met)
c.4555C>A (p.Leu1519Met)
c.4685C>A (p.Pro1562His)
n.4684C>A
n.4700C>A
c.2899C>A (p.Leu967Met)
c.2182C>A (p.Leu728Met)
11g.68446475C=CA1980664474LRP5c.4528C= (p.Leu1510=)
c.198C=
c.*3134C= (n.*3134C=)
c.2785C= (p.Leu929=)
c.4642C= (p.Leu1548=)
c.4669C= (p.Leu1557=)
c.4555C= (p.Leu1519=)
c.4685C= (p.Pro1562=)
n.4684C=
n.4700C=
c.2899C= (p.Leu967=)
c.2182C= (p.Leu728=)
11g.68446475C>GCA6150420LRP5c.4528C>G (p.Leu1510Val)
c.198C>G
c.*3134C>G (n.*3134C>G)
c.2785C>G (p.Leu929Val)
c.4642C>G (p.Leu1548Val)
c.4669C>G (p.Leu1557Val)
c.4555C>G (p.Leu1519Val)
c.4685C>G (p.Pro1562Arg)
n.4684C>G
n.4700C>G
c.2899C>G (p.Leu967Val)
c.2182C>G (p.Leu728Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68446475C>TCA6150421LRP5c.4528C>T (p.Leu1510=)
c.198C>T
c.*3134C>T (n.*3134C>T)
c.2785C>T (p.Leu929=)
c.4642C>T (p.Leu1548=)
c.4669C>T (p.Leu1557=)
c.4555C>T (p.Leu1519=)
c.4685C>T (p.Pro1562Leu)
n.4684C>T
n.4700C>T
c.2899C>T (p.Leu967=)
c.2182C>T (p.Leu728=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68446476T>ACA381616916LRP5c.4529T>A (p.Leu1510Gln)
c.199T>A
c.*3135T>A (n.*3135T>A)
c.2786T>A (p.Leu929Gln)
c.4643T>A (p.Leu1548Gln)
c.4670T>A (p.Leu1557Gln)
c.4556T>A (p.Leu1519Gln)
c.4686T>A (p.Pro1562=)
n.4685T>A
n.4701T>A
c.2900T>A (p.Leu967Gln)
c.2183T>A (p.Leu728Gln)
11g.68446476T>CCA381616918LRP5c.4529T>C (p.Leu1510Pro)
c.199T>C
c.*3135T>C (n.*3135T>C)
c.2786T>C (p.Leu929Pro)
c.4643T>C (p.Leu1548Pro)
c.4670T>C (p.Leu1557Pro)
c.4556T>C (p.Leu1519Pro)
c.4686T>C (p.Pro1562=)
n.4685T>C
n.4701T>C
c.2900T>C (p.Leu967Pro)
c.2183T>C (p.Leu728Pro)
 gnomAD v4
11g.68446476T>GCA381616920LRP5c.4529T>G (p.Leu1510Arg)
c.199T>G
c.*3135T>G (n.*3135T>G)
c.2786T>G (p.Leu929Arg)
c.4643T>G (p.Leu1548Arg)
c.4670T>G (p.Leu1557Arg)
c.4556T>G (p.Leu1519Arg)
c.4686T>G (p.Pro1562=)
n.4685T>G
n.4701T>G
c.2900T>G (p.Leu967Arg)
c.2183T>G (p.Leu728Arg)
11g.68446477G>ACA475462265LRP5c.4530G>A (p.Leu1510=)
c.200G>A
c.*3136G>A (n.*3136G>A)
c.2787G>A (p.Leu929=)
c.4644G>A (p.Leu1548=)
c.4671G>A (p.Leu1557=)
c.4557G>A (p.Leu1519=)
c.4687G>A (p.Val1563Ile)
n.4686G>A
n.4702G>A
c.2901G>A (p.Leu967=)
c.2184G>A (p.Leu728=)
 gnomAD v4
11g.68446477G>CCA475462266LRP5c.4530G>C (p.Leu1510=)
c.200G>C
c.*3136G>C (n.*3136G>C)
c.2787G>C (p.Leu929=)
c.4644G>C (p.Leu1548=)
c.4671G>C (p.Leu1557=)
c.4557G>C (p.Leu1519=)
c.4687G>C (p.Val1563Leu)
n.4686G>C
n.4702G>C
c.2901G>C (p.Leu967=)
c.2184G>C (p.Leu728=)
11g.68446477G>TCA475462267LRP5c.4530G>T (p.Leu1510=)
c.200G>T
c.*3136G>T (n.*3136G>T)
c.2787G>T (p.Leu929=)
c.4644G>T (p.Leu1548=)
c.4671G>T (p.Leu1557=)
c.4557G>T (p.Leu1519=)
c.4687G>T (p.Val1563Leu)
n.4686G>T
n.4702G>T
c.2901G>T (p.Leu967=)
c.2184G>T (p.Leu728=)
11g.68446478T>ACA381616922LRP5c.4531T>A (p.Tyr1511Asn)
c.201T>A
c.*3137T>A (n.*3137T>A)
c.2788T>A (p.Tyr930Asn)
c.4645T>A (p.Tyr1549Asn)
c.4672T>A (p.Tyr1558Asn)
c.4558T>A (p.Tyr1520Asn)
c.4688T>A (p.Val1563Glu)
n.4687T>A
n.4703T>A
c.2902T>A (p.Tyr968Asn)
c.2185T>A (p.Tyr729Asn)
11g.68446478T>CCA381616924LRP5c.4531T>C (p.Tyr1511His)
c.201T>C
c.*3137T>C (n.*3137T>C)
c.2788T>C (p.Tyr930His)
c.4645T>C (p.Tyr1549His)
c.4672T>C (p.Tyr1558His)
c.4558T>C (p.Tyr1520His)
c.4688T>C (p.Val1563Ala)
n.4687T>C
n.4703T>C
c.2902T>C (p.Tyr968His)
c.2185T>C (p.Tyr729His)
11g.68446478T>GCA381616926LRP5c.4531T>G (p.Tyr1511Asp)
c.201T>G
c.*3137T>G (n.*3137T>G)
c.2788T>G (p.Tyr930Asp)
c.4645T>G (p.Tyr1549Asp)
c.4672T>G (p.Tyr1558Asp)
c.4558T>G (p.Tyr1520Asp)
c.4688T>G (p.Val1563Gly)
n.4687T>G
n.4703T>G
c.2902T>G (p.Tyr968Asp)
c.2185T>G (p.Tyr729Asp)
11g.68446479A>CCA381616929LRP5c.4532A>C (p.Tyr1511Ser)
c.202A>C
c.*3138A>C (n.*3138A>C)
c.2789A>C (p.Tyr930Ser)
c.4646A>C (p.Tyr1549Ser)
c.4673A>C (p.Tyr1558Ser)
c.4559A>C (p.Tyr1520Ser)
c.4689A>C (p.Val1563=)
n.4688A>C
n.4704A>C
c.2903A>C (p.Tyr968Ser)
c.2186A>C (p.Tyr729Ser)
11g.68446479A>GCA381616930LRP5c.4532A>G (p.Tyr1511Cys)
c.202A>G
c.*3138A>G (n.*3138A>G)
c.2789A>G (p.Tyr930Cys)
c.4646A>G (p.Tyr1549Cys)
c.4673A>G (p.Tyr1558Cys)
c.4559A>G (p.Tyr1520Cys)
c.4689A>G (p.Val1563=)
n.4688A>G
n.4704A>G
c.2903A>G (p.Tyr968Cys)
c.2186A>G (p.Tyr729Cys)
11g.68446479A>TCA381616932LRP5c.4532A>T (p.Tyr1511Phe)
c.202A>T
c.*3138A>T (n.*3138A>T)
c.2789A>T (p.Tyr930Phe)
c.4646A>T (p.Tyr1549Phe)
c.4673A>T (p.Tyr1558Phe)
c.4559A>T (p.Tyr1520Phe)
c.4689A>T (p.Val1563=)
n.4688A>T
n.4704A>T
c.2903A>T (p.Tyr968Phe)
c.2186A>T (p.Tyr729Phe)
11g.68446480C>ACA381616933LRP5c.4533C>A (p.Tyr1511Ter)
c.203C>A
c.*3139C>A (n.*3139C>A)
c.2790C>A (p.Tyr930Ter)
c.4647C>A (p.Tyr1549Ter)
c.4674C>A (p.Tyr1558Ter)
c.4560C>A (p.Tyr1520Ter)
c.4690C>A (p.Gln1564Lys)
n.4689C>A
n.4705C>A
c.2904C>A (p.Tyr968Ter)
c.2187C>A (p.Tyr729Ter)
11g.68446480C>GCA381616934LRP5c.4533C>G (p.Tyr1511Ter)
c.203C>G
c.*3139C>G (n.*3139C>G)
c.2790C>G (p.Tyr930Ter)
c.4647C>G (p.Tyr1549Ter)
c.4674C>G (p.Tyr1558Ter)
c.4560C>G (p.Tyr1520Ter)
c.4690C>G (p.Gln1564Glu)
n.4689C>G
n.4705C>G
c.2904C>G (p.Tyr968Ter)
c.2187C>G (p.Tyr729Ter)
11g.68446480C>TCA475462271LRP5c.4533C>T (p.Tyr1511=)
c.203C>T
c.*3139C>T (n.*3139C>T)
c.2790C>T (p.Tyr930=)
c.4647C>T (p.Tyr1549=)
c.4674C>T (p.Tyr1558=)
c.4560C>T (p.Tyr1520=)
c.4690C>T (p.Gln1564Ter)
n.4689C>T
n.4705C>T
c.2904C>T (p.Tyr968=)
c.2187C>T (p.Tyr729=)
11g.68446481A>CCA381616938LRP5c.4534A>C (p.Asn1512His)
c.204A>C
c.*3140A>C (n.*3140A>C)
c.2791A>C (p.Asn931His)
c.4648A>C (p.Asn1550His)
c.4675A>C (p.Asn1559His)
c.4561A>C (p.Asn1521His)
c.4691A>C (p.Gln1564Pro)
n.4690A>C
n.4706A>C
c.2905A>C (p.Asn969His)
c.2188A>C (p.Asn730His)
11g.68446481A>GCA381616936LRP5c.4534A>G (p.Asn1512Asp)
c.204A>G
c.*3140A>G (n.*3140A>G)
c.2791A>G (p.Asn931Asp)
c.4648A>G (p.Asn1550Asp)
c.4675A>G (p.Asn1559Asp)
c.4561A>G (p.Asn1521Asp)
c.4691A>G (p.Gln1564Arg)
n.4690A>G
n.4706A>G
c.2905A>G (p.Asn969Asp)
c.2188A>G (p.Asn730Asp)
 gnomAD v4
11g.68446481A>TCA381616935LRP5c.4534A>T (p.Asn1512Tyr)
c.204A>T
c.*3140A>T (n.*3140A>T)
c.2791A>T (p.Asn931Tyr)
c.4648A>T (p.Asn1550Tyr)
c.4675A>T (p.Asn1559Tyr)
c.4561A>T (p.Asn1521Tyr)
c.4691A>T (p.Gln1564Leu)
n.4690A>T
n.4706A>T
c.2905A>T (p.Asn969Tyr)
c.2188A>T (p.Asn730Tyr)
11g.68446482A>CCA381616939LRP5c.4535A>C (p.Asn1512Thr)
c.205A>C
c.*3141A>C (n.*3141A>C)
c.2792A>C (p.Asn931Thr)
c.4649A>C (p.Asn1550Thr)
c.4676A>C (p.Asn1559Thr)
c.4562A>C (p.Asn1521Thr)
c.4692A>C (p.Gln1564His)
n.4691A>C
n.4707A>C
c.2906A>C (p.Asn969Thr)
c.2189A>C (p.Asn730Thr)
11g.68446482A>GCA381616941LRP5c.4535A>G (p.Asn1512Ser)
c.205A>G
c.*3141A>G (n.*3141A>G)
c.2792A>G (p.Asn931Ser)
c.4649A>G (p.Asn1550Ser)
c.4676A>G (p.Asn1559Ser)
c.4562A>G (p.Asn1521Ser)
c.4692A>G (p.Gln1564=)
n.4691A>G
n.4707A>G
c.2906A>G (p.Asn969Ser)
c.2189A>G (p.Asn730Ser)
 gnomAD v4
11g.68446482A>TCA381616943LRP5c.4535A>T (p.Asn1512Ile)
c.205A>T
c.*3141A>T (n.*3141A>T)
c.2792A>T (p.Asn931Ile)
c.4649A>T (p.Asn1550Ile)
c.4676A>T (p.Asn1559Ile)
c.4562A>T (p.Asn1521Ile)
c.4692A>T (p.Gln1564His)
n.4691A>T
n.4707A>T
c.2906A>T (p.Asn969Ile)
c.2189A>T (p.Asn730Ile)
11g.68446483C>ACA381616945LRP5c.4536C>A (p.Asn1512Lys)
c.206C>A
c.*3142C>A (n.*3142C>A)
c.2793C>A (p.Asn931Lys)
c.4650C>A (p.Asn1550Lys)
c.4677C>A (p.Asn1559Lys)
c.4563C>A (p.Asn1521Lys)
c.4693C>A (p.His1565Asn)
n.4692C>A
n.4708C>A
c.2907C>A (p.Asn969Lys)
c.2190C>A (p.Asn730Lys)
 gnomAD v4
11g.68446483C>GCA381616946LRP5c.4536C>G (p.Asn1512Lys)
c.206C>G
c.*3142C>G (n.*3142C>G)
c.2793C>G (p.Asn931Lys)
c.4650C>G (p.Asn1550Lys)
c.4677C>G (p.Asn1559Lys)
c.4563C>G (p.Asn1521Lys)
c.4693C>G (p.His1565Asp)
n.4692C>G
n.4708C>G
c.2907C>G (p.Asn969Lys)
c.2190C>G (p.Asn730Lys)
11g.68446483C>TCA475462273LRP5c.4536C>T (p.Asn1512=)
c.206C>T
c.*3142C>T (n.*3142C>T)
c.2793C>T (p.Asn931=)
c.4650C>T (p.Asn1550=)
c.4677C>T (p.Asn1559=)
c.4563C>T (p.Asn1521=)
c.4693C>T (p.His1565Tyr)
n.4692C>T
n.4708C>T
c.2907C>T (p.Asn969=)
c.2190C>T (p.Asn730=)
11g.68446484A=CA1980664480LRP5c.4537A= (p.Met1513=)
c.207A=
c.*3143A= (n.*3143A=)
c.2794A= (p.Met932=)
c.4651A= (p.Met1551=)
c.4678A= (p.Met1560=)
c.4564A= (p.Met1522=)
c.4694A= (p.His1565=)
n.4693A=
n.4709A=
c.2908A= (p.Met970=)
c.2191A= (p.Met731=)
11g.68446484A>CCA381616951LRP5c.4537A>C (p.Met1513Leu)
c.207A>C
c.*3143A>C (n.*3143A>C)
c.2794A>C (p.Met932Leu)
c.4651A>C (p.Met1551Leu)
c.4678A>C (p.Met1560Leu)
c.4564A>C (p.Met1522Leu)
c.4694A>C (p.His1565Pro)
n.4693A>C
n.4709A>C
c.2908A>C (p.Met970Leu)
c.2191A>C (p.Met731Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.68446484A>GCA381616949LRP5c.4537A>G (p.Met1513Val)
c.207A>G
c.*3143A>G (n.*3143A>G)
c.2794A>G (p.Met932Val)
c.4651A>G (p.Met1551Val)
c.4678A>G (p.Met1560Val)
c.4564A>G (p.Met1522Val)
c.4694A>G (p.His1565Arg)
n.4693A>G
n.4709A>G
c.2908A>G (p.Met970Val)
c.2191A>G (p.Met731Val)
11g.68446484A>TCA381616948LRP5c.4537A>T (p.Met1513Leu)
c.207A>T
c.*3143A>T (n.*3143A>T)
c.2794A>T (p.Met932Leu)
c.4651A>T (p.Met1551Leu)
c.4678A>T (p.Met1560Leu)
c.4564A>T (p.Met1522Leu)
c.4694A>T (p.His1565Leu)
n.4693A>T
n.4709A>T
c.2908A>T (p.Met970Leu)
c.2191A>T (p.Met731Leu)
11g.68446485T>ACA381616953LRP5c.4538T>A (p.Met1513Lys)
c.208T>A
c.*3144T>A (n.*3144T>A)
c.2795T>A (p.Met932Lys)
c.4652T>A (p.Met1551Lys)
c.4679T>A (p.Met1560Lys)
c.4565T>A (p.Met1522Lys)
c.4695T>A (p.His1565Gln)
n.4694T>A
n.4710T>A
c.2909T>A (p.Met970Lys)
c.2192T>A (p.Met731Lys)
11g.68446485T>CCA381616955LRP5c.4538T>C (p.Met1513Thr)
c.208T>C
c.*3144T>C (n.*3144T>C)
c.2795T>C (p.Met932Thr)
c.4652T>C (p.Met1551Thr)
c.4679T>C (p.Met1560Thr)
c.4565T>C (p.Met1522Thr)
c.4695T>C (p.His1565=)
n.4694T>C
n.4710T>C
c.2909T>C (p.Met970Thr)
c.2192T>C (p.Met731Thr)
 gnomAD v4
11g.68446485T>GCA381616957LRP5c.4538T>G (p.Met1513Arg)
c.208T>G
c.*3144T>G (n.*3144T>G)
c.2795T>G (p.Met932Arg)
c.4652T>G (p.Met1551Arg)
c.4679T>G (p.Met1560Arg)
c.4565T>G (p.Met1522Arg)
c.4695T>G (p.His1565Gln)
n.4694T>G
n.4710T>G
c.2909T>G (p.Met970Arg)
c.2192T>G (p.Met731Arg)
11g.68446486G>ACA381616959LRP5c.4539G>A (p.Met1513Ile)
c.209G>A
c.*3145G>A (n.*3145G>A)
c.2796G>A (p.Met932Ile)
c.4653G>A (p.Met1551Ile)
c.4680G>A (p.Met1560Ile)
c.4566G>A (p.Met1522Ile)
c.4696G>A (p.Gly1566Arg)
n.4695G>A
n.4711G>A
c.2910G>A (p.Met970Ile)
c.2193G>A (p.Met731Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.68446486G>CCA381616962LRP5c.4539G>C (p.Met1513Ile)
c.209G>C
c.*3145G>C (n.*3145G>C)
c.2796G>C (p.Met932Ile)
c.4653G>C (p.Met1551Ile)
c.4680G>C (p.Met1560Ile)
c.4566G>C (p.Met1522Ile)
c.4696G>C (p.Gly1566Arg)
n.4695G>C
n.4711G>C
c.2910G>C (p.Met970Ile)
c.2193G>C (p.Met731Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.68446486G=CA1980664485LRP5c.4539G= (p.Met1513=)
c.209G=
c.*3145G= (n.*3145G=)
c.2796G= (p.Met932=)
c.4653G= (p.Met1551=)
c.4680G= (p.Met1560=)
c.4566G= (p.Met1522=)
c.4696G= (p.Gly1566=)
n.4695G=
n.4711G=
c.2910G= (p.Met970=)
c.2193G= (p.Met731=)
11g.68446486G>TCA381616964LRP5c.4539G>T (p.Met1513Ile)
c.209G>T
c.*3145G>T (n.*3145G>T)
c.2796G>T (p.Met932Ile)
c.4653G>T (p.Met1551Ile)
c.4680G>T (p.Met1560Ile)
c.4566G>T (p.Met1522Ile)
c.4696G>T (p.Gly1566Ter)
n.4695G>T
n.4711G>T
c.2910G>T (p.Met970Ile)
c.2193G>T (p.Met731Ile)
11g.68446487G>ACA381616966LRP5c.4540G>A (p.Asp1514Asn)
c.210G>A
c.*3146G>A (n.*3146G>A)
c.2797G>A (p.Asp933Asn)
c.4654G>A (p.Asp1552Asn)
c.4681G>A (p.Asp1561Asn)
c.4567G>A (p.Asp1523Asn)
c.4697G>A (p.Gly1566Glu)
n.4696G>A
n.4712G>A
c.2911G>A (p.Asp971Asn)
c.2194G>A (p.Asp732Asn)
11g.68446487G>CCA381616970LRP5c.4540G>C (p.Asp1514His)
c.210G>C
c.*3146G>C (n.*3146G>C)
c.2797G>C (p.Asp933His)
c.4654G>C (p.Asp1552His)
c.4681G>C (p.Asp1561His)
c.4567G>C (p.Asp1523His)
c.4697G>C (p.Gly1566Ala)
n.4696G>C
n.4712G>C
c.2911G>C (p.Asp971His)
c.2194G>C (p.Asp732His)
11g.68446487G>TCA381616968LRP5c.4540G>T (p.Asp1514Tyr)
c.210G>T
c.*3146G>T (n.*3146G>T)
c.2797G>T (p.Asp933Tyr)
c.4654G>T (p.Asp1552Tyr)
c.4681G>T (p.Asp1561Tyr)
c.4567G>T (p.Asp1523Tyr)
c.4697G>T (p.Gly1566Val)
n.4696G>T
n.4712G>T
c.2911G>T (p.Asp971Tyr)
c.2194G>T (p.Asp732Tyr)
11g.68446488A=CA1980664487LRP5c.4541A= (p.Asp1514=)
c.211A=
c.*3147A= (n.*3147A=)
c.2798A= (p.Asp933=)
c.4655A= (p.Asp1552=)
c.4682A= (p.Asp1561=)
c.4568A= (p.Asp1523=)
c.4698A= (p.Gly1566=)
n.4697A=
n.4713A=
c.2912A= (p.Asp971=)
c.2195A= (p.Asp732=)
11g.68446488A>CCA381616972LRP5c.4541A>C (p.Asp1514Ala)
c.211A>C
c.*3147A>C (n.*3147A>C)
c.2798A>C (p.Asp933Ala)
c.4655A>C (p.Asp1552Ala)
c.4682A>C (p.Asp1561Ala)
c.4568A>C (p.Asp1523Ala)
c.4698A>C (p.Gly1566=)
n.4697A>C
n.4713A>C
c.2912A>C (p.Asp971Ala)
c.2195A>C (p.Asp732Ala)
11g.68446488A>GCA381616974LRP5c.4541A>G (p.Asp1514Gly)
c.211A>G
c.*3147A>G (n.*3147A>G)
c.2798A>G (p.Asp933Gly)
c.4655A>G (p.Asp1552Gly)
c.4682A>G (p.Asp1561Gly)
c.4568A>G (p.Asp1523Gly)
c.4698A>G (p.Gly1566=)
n.4697A>G
n.4713A>G
c.2912A>G (p.Asp971Gly)
c.2195A>G (p.Asp732Gly)
 dbSNP gnomAD v2 gnomAD v4
11g.68446488A>TCA381616976LRP5c.4541A>T (p.Asp1514Val)
c.211A>T
c.*3147A>T (n.*3147A>T)
c.2798A>T (p.Asp933Val)
c.4655A>T (p.Asp1552Val)
c.4682A>T (p.Asp1561Val)
c.4568A>T (p.Asp1523Val)
c.4698A>T (p.Gly1566=)
n.4697A>T
n.4713A>T
c.2912A>T (p.Asp971Val)
c.2195A>T (p.Asp732Val)
11g.68446489C>ACA381616978LRP5c.4542C>A (p.Asp1514Glu)
c.212C>A
c.*3148C>A (n.*3148C>A)
c.2799C>A (p.Asp933Glu)
c.4656C>A (p.Asp1552Glu)
c.4683C>A (p.Asp1561Glu)
c.4569C>A (p.Asp1523Glu)
c.4699C>A (p.His1567Asn)
n.4698C>A
n.4714C>A
c.2913C>A (p.Asp971Glu)
c.2196C>A (p.Asp732Glu)
11g.68446489C>GCA381616980LRP5c.4542C>G (p.Asp1514Glu)
c.212C>G
c.*3148C>G (n.*3148C>G)
c.2799C>G (p.Asp933Glu)
c.4656C>G (p.Asp1552Glu)
c.4683C>G (p.Asp1561Glu)
c.4569C>G (p.Asp1523Glu)
c.4699C>G (p.His1567Asp)
n.4698C>G
n.4714C>G
c.2913C>G (p.Asp971Glu)
c.2196C>G (p.Asp732Glu)
11g.68446489C>TCA475462275LRP5c.4542C>T (p.Asp1514=)
c.212C>T
c.*3148C>T (n.*3148C>T)
c.2799C>T (p.Asp933=)
c.4656C>T (p.Asp1552=)
c.4683C>T (p.Asp1561=)
c.4569C>T (p.Asp1523=)
c.4699C>T (p.His1567Tyr)
n.4698C>T
n.4714C>T
c.2913C>T (p.Asp971=)
c.2196C>T (p.Asp732=)
11g.68446490A=CA1980664490LRP5c.4543A= (p.Met1515=)
c.213A=
c.*3149A= (n.*3149A=)
c.2800A= (p.Met934=)
c.4657A= (p.Met1553=)
c.4684A= (p.Met1562=)
c.4570A= (p.Met1524=)
c.4700A= (p.His1567=)
n.4699A=
n.4715A=
c.2914A= (p.Met972=)
c.2197A= (p.Met733=)
11g.68446490A>CCA381616983LRP5c.4543A>C (p.Met1515Leu)
c.213A>C
c.*3149A>C (n.*3149A>C)
c.2800A>C (p.Met934Leu)
c.4657A>C (p.Met1553Leu)
c.4684A>C (p.Met1562Leu)
c.4570A>C (p.Met1524Leu)
c.4700A>C (p.His1567Pro)
n.4699A>C
n.4715A>C
c.2914A>C (p.Met972Leu)
c.2197A>C (p.Met733Leu)
11g.68446490A>GCA381616985LRP5c.4543A>G (p.Met1515Val)
c.213A>G
c.*3149A>G (n.*3149A>G)
c.2800A>G (p.Met934Val)
c.4657A>G (p.Met1553Val)
c.4684A>G (p.Met1562Val)
c.4570A>G (p.Met1524Val)
c.4700A>G (p.His1567Arg)
n.4699A>G
n.4715A>G
c.2914A>G (p.Met972Val)
c.2197A>G (p.Met733Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68446490A>TCA381616987LRP5c.4543A>T (p.Met1515Leu)
c.213A>T
c.*3149A>T (n.*3149A>T)
c.2800A>T (p.Met934Leu)
c.4657A>T (p.Met1553Leu)
c.4684A>T (p.Met1562Leu)
c.4570A>T (p.Met1524Leu)
c.4700A>T (p.His1567Leu)
n.4699A>T
n.4715A>T
c.2914A>T (p.Met972Leu)
c.2197A>T (p.Met733Leu)
11g.68446491T>ACA381616988LRP5c.4544T>A (p.Met1515Lys)
c.214T>A
c.*3150T>A (n.*3150T>A)
c.2801T>A (p.Met934Lys)
c.4658T>A (p.Met1553Lys)
c.4685T>A (p.Met1562Lys)
c.4571T>A (p.Met1524Lys)
c.4701T>A (p.His1567Gln)
n.4700T>A
n.4716T>A
c.2915T>A (p.Met972Lys)
c.2198T>A (p.Met733Lys)
11g.68446491T>CCA224259413LRP5c.4544T>C (p.Met1515Thr)
c.214T>C
c.*3150T>C (n.*3150T>C)
c.2801T>C (p.Met934Thr)
c.4658T>C (p.Met1553Thr)
c.4685T>C (p.Met1562Thr)
c.4571T>C (p.Met1524Thr)
c.4701T>C (p.His1567=)
n.4700T>C
n.4716T>C
c.2915T>C (p.Met972Thr)
c.2198T>C (p.Met733Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68446491T>GCA381616991LRP5c.4544T>G (p.Met1515Arg)
c.214T>G
c.*3150T>G (n.*3150T>G)
c.2801T>G (p.Met934Arg)
c.4658T>G (p.Met1553Arg)
c.4685T>G (p.Met1562Arg)
c.4571T>G (p.Met1524Arg)
c.4701T>G (p.His1567Gln)
n.4700T>G
n.4716T>G
c.2915T>G (p.Met972Arg)
c.2198T>G (p.Met733Arg)
11g.68446491T=CA1980664493LRP5c.4544T= (p.Met1515=)
c.214T=
c.*3150T= (n.*3150T=)
c.2801T= (p.Met934=)
c.4658T= (p.Met1553=)
c.4685T= (p.Met1562=)
c.4571T= (p.Met1524=)
c.4701T= (p.His1567=)
n.4700T=
n.4716T=
c.2915T= (p.Met972=)
c.2198T= (p.Met733=)
11g.68446492G>ACA381616995LRP5c.4545G>A (p.Met1515Ile)
c.215G>A
c.*3151G>A (n.*3151G>A)
c.2802G>A (p.Met934Ile)
c.4659G>A (p.Met1553Ile)
c.4686G>A (p.Met1562Ile)
c.4572G>A (p.Met1524Ile)
c.4702G>A (p.Val1568Ile)
n.4701G>A
n.4717G>A
c.2916G>A (p.Met972Ile)
c.2199G>A (p.Met733Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.68446492G>CCA381616998LRP5c.4545G>C (p.Met1515Ile)
c.215G>C
c.*3151G>C (n.*3151G>C)
c.2802G>C (p.Met934Ile)
c.4659G>C (p.Met1553Ile)
c.4686G>C (p.Met1562Ile)
c.4572G>C (p.Met1524Ile)
c.4702G>C (p.Val1568Leu)
n.4701G>C
n.4717G>C
c.2916G>C (p.Met972Ile)
c.2199G>C (p.Met733Ile)
11g.68446492G=CA1980664495LRP5c.4545G= (p.Met1515=)
c.215G=
c.*3151G= (n.*3151G=)
c.2802G= (p.Met934=)
c.4659G= (p.Met1553=)
c.4686G= (p.Met1562=)
c.4572G= (p.Met1524=)
c.4702G= (p.Val1568=)
n.4701G=
n.4717G=
c.2916G= (p.Met972=)
c.2199G= (p.Met733=)
11g.68446492G>TCA381616994LRP5c.4545G>T (p.Met1515Ile)
c.215G>T
c.*3151G>T (n.*3151G>T)
c.2802G>T (p.Met934Ile)
c.4659G>T (p.Met1553Ile)
c.4686G>T (p.Met1562Ile)
c.4572G>T (p.Met1524Ile)
c.4702G>T (p.Val1568Phe)
n.4701G>T
n.4717G>T
c.2916G>T (p.Met972Ile)
c.2199G>T (p.Met733Ile)
11g.68446493T>ACA381617021LRP5c.4546T>A (p.Phe1516Ile)
c.216T>A
c.*3152T>A (n.*3152T>A)
c.2803T>A (p.Phe935Ile)
c.4660T>A (p.Phe1554Ile)
c.4687T>A (p.Phe1563Ile)
c.4573T>A (p.Phe1525Ile)
c.4703T>A (p.Val1568Asp)
n.4702T>A
n.4718T>A
c.2917T>A (p.Phe973Ile)
c.2200T>A (p.Phe734Ile)
11g.68446493T>CCA381617001LRP5c.4546T>C (p.Phe1516Leu)
c.216T>C
c.*3152T>C (n.*3152T>C)
c.2803T>C (p.Phe935Leu)
c.4660T>C (p.Phe1554Leu)
c.4687T>C (p.Phe1563Leu)
c.4573T>C (p.Phe1525Leu)
c.4703T>C (p.Val1568Ala)
n.4702T>C
n.4718T>C
c.2917T>C (p.Phe973Leu)
c.2200T>C (p.Phe734Leu)
11g.68446493T>GCA381617003LRP5c.4546T>G (p.Phe1516Val)
c.216T>G
c.*3152T>G (n.*3152T>G)
c.2803T>G (p.Phe935Val)
c.4660T>G (p.Phe1554Val)
c.4687T>G (p.Phe1563Val)
c.4573T>G (p.Phe1525Val)
c.4703T>G (p.Val1568Gly)
n.4702T>G
n.4718T>G
c.2917T>G (p.Phe973Val)
c.2200T>G (p.Phe734Val)
11g.68446494T>ACA381617024LRP5c.4547T>A (p.Phe1516Tyr)
c.217T>A
c.*3153T>A (n.*3153T>A)
c.2804T>A (p.Phe935Tyr)
c.4661T>A (p.Phe1554Tyr)
c.4688T>A (p.Phe1563Tyr)
c.4574T>A (p.Phe1525Tyr)
c.4704T>A (p.Val1568=)
n.4703T>A
n.4719T>A
c.2918T>A (p.Phe973Tyr)
c.2201T>A (p.Phe734Tyr)
11g.68446494T>CCA381617025LRP5c.4547T>C (p.Phe1516Ser)
c.217T>C
c.*3153T>C (n.*3153T>C)
c.2804T>C (p.Phe935Ser)
c.4661T>C (p.Phe1554Ser)
c.4688T>C (p.Phe1563Ser)
c.4574T>C (p.Phe1525Ser)
c.4704T>C (p.Val1568=)
n.4703T>C
n.4719T>C
c.2918T>C (p.Phe973Ser)
c.2201T>C (p.Phe734Ser)
11g.68446494T>GCA381617027LRP5c.4547T>G (p.Phe1516Cys)
c.217T>G
c.*3153T>G (n.*3153T>G)
c.2804T>G (p.Phe935Cys)
c.4661T>G (p.Phe1554Cys)
c.4688T>G (p.Phe1563Cys)
c.4574T>G (p.Phe1525Cys)
c.4704T>G (p.Val1568=)
n.4703T>G
n.4719T>G
c.2918T>G (p.Phe973Cys)
c.2201T>G (p.Phe734Cys)
11g.68446495C>ACA6150422LRP5c.4548C>A (p.Phe1516Leu)
c.218C>A
c.*3154C>A (n.*3154C>A)
c.2805C>A (p.Phe935Leu)
c.4662C>A (p.Phe1554Leu)
c.4689C>A (p.Phe1563Leu)
c.4575C>A (p.Phe1525Leu)
c.4705C>A (p.Leu1569Ile)
n.4704C>A
n.4720C>A
c.2919C>A (p.Phe973Leu)
c.2202C>A (p.Phe734Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68446495C=CA1980664500LRP5c.4548C= (p.Phe1516=)
c.218C=
c.*3154C= (n.*3154C=)
c.2805C= (p.Phe935=)
c.4662C= (p.Phe1554=)
c.4689C= (p.Phe1563=)
c.4575C= (p.Phe1525=)
c.4705C= (p.Leu1569=)
n.4704C=
n.4720C=
c.2919C= (p.Phe973=)
c.2202C= (p.Phe734=)
11g.68446495C>GCA381617030LRP5c.4548C>G (p.Phe1516Leu)
c.218C>G
c.*3154C>G (n.*3154C>G)
c.2805C>G (p.Phe935Leu)
c.4662C>G (p.Phe1554Leu)
c.4689C>G (p.Phe1563Leu)
c.4575C>G (p.Phe1525Leu)
c.4705C>G (p.Leu1569Val)
n.4704C>G
n.4720C>G
c.2919C>G (p.Phe973Leu)
c.2202C>G (p.Phe734Leu)
11g.68446495C>TCA475462278LRP5c.4548C>T (p.Phe1516=)
c.218C>T
c.*3154C>T (n.*3154C>T)
c.2805C>T (p.Phe935=)
c.4662C>T (p.Phe1554=)
c.4689C>T (p.Phe1563=)
c.4575C>T (p.Phe1525=)
c.4705C>T (p.Leu1569=)
n.4704C>T
n.4720C>T
c.2919C>T (p.Phe973=)
c.2202C>T (p.Phe734=)
11g.68446496T>ACA381617037LRP5c.4549T>A (p.Tyr1517Asn)
c.219T>A
c.*3155T>A (n.*3155T>A)
c.2806T>A (p.Tyr936Asn)
c.4663T>A (p.Tyr1555Asn)
c.4690T>A (p.Tyr1564Asn)
c.4576T>A (p.Tyr1526Asn)
c.4706T>A (p.Leu1569Gln)
n.4705T>A
n.4721T>A
c.2920T>A (p.Tyr974Asn)
c.2203T>A (p.Tyr735Asn)
11g.68446496T>CCA381617033LRP5c.4549T>C (p.Tyr1517His)
c.219T>C
c.*3155T>C (n.*3155T>C)
c.2806T>C (p.Tyr936His)
c.4663T>C (p.Tyr1555His)
c.4690T>C (p.Tyr1564His)
c.4576T>C (p.Tyr1526His)
c.4706T>C (p.Leu1569Pro)
n.4705T>C
n.4721T>C
c.2920T>C (p.Tyr974His)
c.2203T>C (p.Tyr735His)
 dbSNP gnomAD v2 gnomAD v4
11g.68446496T>GCA381617035LRP5c.4549T>G (p.Tyr1517Asp)
c.219T>G
c.*3155T>G (n.*3155T>G)
c.2806T>G (p.Tyr936Asp)
c.4663T>G (p.Tyr1555Asp)
c.4690T>G (p.Tyr1564Asp)
c.4576T>G (p.Tyr1526Asp)
c.4706T>G (p.Leu1569Arg)
n.4705T>G
n.4721T>G
c.2920T>G (p.Tyr974Asp)
c.2203T>G (p.Tyr735Asp)
11g.68446496T=CA1980664504LRP5c.4549T= (p.Tyr1517=)
c.219T=
c.*3155T= (n.*3155T=)
c.2806T= (p.Tyr936=)
c.4663T= (p.Tyr1555=)
c.4690T= (p.Tyr1564=)
c.4576T= (p.Tyr1526=)
c.4706T= (p.Leu1569=)
n.4705T=
n.4721T=
c.2920T= (p.Tyr974=)
c.2203T= (p.Tyr735=)
11g.68446497A=CA1980664507LRP5c.4550A= (p.Tyr1517=)
c.220A=
c.*3156A= (n.*3156A=)
c.2807A= (p.Tyr936=)
c.4664A= (p.Tyr1555=)
c.4691A= (p.Tyr1564=)
c.4577A= (p.Tyr1526=)
c.4707A= (p.Leu1569=)
n.4706A=
n.4722A=
c.2921A= (p.Tyr974=)
c.2204A= (p.Tyr735=)
11g.68446497A>CCA381617040LRP5c.4550A>C (p.Tyr1517Ser)
c.220A>C
c.*3156A>C (n.*3156A>C)
c.2807A>C (p.Tyr936Ser)
c.4664A>C (p.Tyr1555Ser)
c.4691A>C (p.Tyr1564Ser)
c.4577A>C (p.Tyr1526Ser)
c.4707A>C (p.Leu1569=)
n.4706A>C
n.4722A>C
c.2921A>C (p.Tyr974Ser)
c.2204A>C (p.Tyr735Ser)
11g.68446497A>GCA6150423LRP5c.4550A>G (p.Tyr1517Cys)
c.220A>G
c.*3156A>G (n.*3156A>G)
c.2807A>G (p.Tyr936Cys)
c.4664A>G (p.Tyr1555Cys)
c.4691A>G (p.Tyr1564Cys)
c.4577A>G (p.Tyr1526Cys)
c.4707A>G (p.Leu1569=)
n.4706A>G
n.4722A>G
c.2921A>G (p.Tyr974Cys)
c.2204A>G (p.Tyr735Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68446497A>TCA381617043LRP5c.4550A>T (p.Tyr1517Phe)
c.220A>T
c.*3156A>T (n.*3156A>T)
c.2807A>T (p.Tyr936Phe)
c.4664A>T (p.Tyr1555Phe)
c.4691A>T (p.Tyr1564Phe)
c.4577A>T (p.Tyr1526Phe)
c.4707A>T (p.Leu1569=)
n.4706A>T
n.4722A>T
c.2921A>T (p.Tyr974Phe)
c.2204A>T (p.Tyr735Phe)
11g.68446498C>ACA381617045LRP5c.4551C>A (p.Tyr1517Ter)
c.221C>A
c.*3157C>A (n.*3157C>A)
c.2808C>A (p.Tyr936Ter)
c.4665C>A (p.Tyr1555Ter)
c.4692C>A (p.Tyr1564Ter)
c.4578C>A (p.Tyr1526Ter)
c.4708C>A (p.Leu1570Ile)
n.4707C>A
n.4723C>A
c.2922C>A (p.Tyr974Ter)
c.2205C>A (p.Tyr735Ter)
11g.68446498C>GCA381617047LRP5c.4551C>G (p.Tyr1517Ter)
c.221C>G
c.*3157C>G (n.*3157C>G)
c.2808C>G (p.Tyr936Ter)
c.4665C>G (p.Tyr1555Ter)
c.4692C>G (p.Tyr1564Ter)
c.4578C>G (p.Tyr1526Ter)
c.4708C>G (p.Leu1570Val)
n.4707C>G
n.4723C>G
c.2922C>G (p.Tyr974Ter)
c.2205C>G (p.Tyr735Ter)
11g.68446498C>TCA475462279LRP5c.4551C>T (p.Tyr1517=)
c.221C>T
c.*3157C>T (n.*3157C>T)
c.2808C>T (p.Tyr936=)
c.4665C>T (p.Tyr1555=)
c.4692C>T (p.Tyr1564=)
c.4578C>T (p.Tyr1526=)
c.4708C>T (p.Leu1570Phe)
n.4707C>T
n.4723C>T
c.2922C>T (p.Tyr974=)
c.2205C>T (p.Tyr735=)
11g.68446499T>ACA381617049LRP5c.4552T>A (p.Ser1518Thr)
c.222T>A
c.*3158T>A (n.*3158T>A)
c.2809T>A (p.Ser937Thr)
c.4666T>A (p.Ser1556Thr)
c.4693T>A (p.Ser1565Thr)
c.4579T>A (p.Ser1527Thr)
c.4709T>A (p.Leu1570His)
n.4708T>A
n.4724T>A
c.2923T>A (p.Ser975Thr)
c.2206T>A (p.Ser736Thr)
11g.68446499T>CCA381617052LRP5c.4552T>C (p.Ser1518Pro)
c.222T>C
c.*3158T>C (n.*3158T>C)
c.2809T>C (p.Ser937Pro)
c.4666T>C (p.Ser1556Pro)
c.4693T>C (p.Ser1565Pro)
c.4579T>C (p.Ser1527Pro)
c.4709T>C (p.Leu1570Pro)
n.4708T>C
n.4724T>C
c.2923T>C (p.Ser975Pro)
c.2206T>C (p.Ser736Pro)
11g.68446499T>GCA381617051LRP5c.4552T>G (p.Ser1518Ala)
c.222T>G
c.*3158T>G (n.*3158T>G)
c.2809T>G (p.Ser937Ala)
c.4666T>G (p.Ser1556Ala)
c.4693T>G (p.Ser1565Ala)
c.4579T>G (p.Ser1527Ala)
c.4709T>G (p.Leu1570Arg)
n.4708T>G
n.4724T>G
c.2923T>G (p.Ser975Ala)
c.2206T>G (p.Ser736Ala)
11g.68446500C>ACA381617056LRP5c.4553C>A (p.Ser1518Tyr)
c.223C>A
c.*3159C>A (n.*3159C>A)
c.2810C>A (p.Ser937Tyr)
c.4667C>A (p.Ser1556Tyr)
c.4694C>A (p.Ser1565Tyr)
c.4580C>A (p.Ser1527Tyr)
c.4710C>A (p.Leu1570=)
n.4709C>A
n.4725C>A
c.2924C>A (p.Ser975Tyr)
c.2207C>A (p.Ser736Tyr)
11g.68446500C>GCA381617058LRP5c.4553C>G (p.Ser1518Cys)
c.223C>G
c.*3159C>G (n.*3159C>G)
c.2810C>G (p.Ser937Cys)
c.4667C>G (p.Ser1556Cys)
c.4694C>G (p.Ser1565Cys)
c.4580C>G (p.Ser1527Cys)
c.4710C>G (p.Leu1570=)
n.4709C>G
n.4725C>G
c.2924C>G (p.Ser975Cys)
c.2207C>G (p.Ser736Cys)
11g.68446500C>TCA381617059LRP5c.4553C>T (p.Ser1518Phe)
c.223C>T
c.*3159C>T (n.*3159C>T)
c.2810C>T (p.Ser937Phe)
c.4667C>T (p.Ser1556Phe)
c.4694C>T (p.Ser1565Phe)
c.4580C>T (p.Ser1527Phe)
c.4710C>T (p.Leu1570=)
n.4709C>T
n.4725C>T
c.2924C>T (p.Ser975Phe)
c.2207C>T (p.Ser736Phe)
 gnomAD v4
11g.68446501T>ACA475462281LRP5c.4554T>A (p.Ser1518=)
c.224T>A
c.*3160T>A (n.*3160T>A)
c.2811T>A (p.Ser937=)
c.4668T>A (p.Ser1556=)
c.4695T>A (p.Ser1565=)
c.4581T>A (p.Ser1527=)
c.4711T>A (p.Phe1571Ile)
n.4710T>A
n.4726T>A
c.2925T>A (p.Ser975=)
c.2208T>A (p.Ser736=)
11g.68446501T>CCA475462282LRP5c.4554T>C (p.Ser1518=)
c.224T>C
c.*3160T>C (n.*3160T>C)
c.2811T>C (p.Ser937=)
c.4668T>C (p.Ser1556=)
c.4695T>C (p.Ser1565=)
c.4581T>C (p.Ser1527=)
c.4711T>C (p.Phe1571Leu)
n.4710T>C
n.4726T>C
c.2925T>C (p.Ser975=)
c.2208T>C (p.Ser736=)
11g.68446501T>GCA475462283LRP5c.4554T>G (p.Ser1518=)
c.224T>G
c.*3160T>G (n.*3160T>G)
c.2811T>G (p.Ser937=)
c.4668T>G (p.Ser1556=)
c.4695T>G (p.Ser1565=)
c.4581T>G (p.Ser1527=)
c.4711T>G (p.Phe1571Val)
n.4710T>G
n.4726T>G
c.2925T>G (p.Ser975=)
c.2208T>G (p.Ser736=)
11g.68446502T>ACA381617061LRP5c.4555T>A (p.Ser1519Thr)
c.225T>A
c.*3161T>A (n.*3161T>A)
c.2812T>A (p.Ser938Thr)
c.4669T>A (p.Ser1557Thr)
c.4696T>A (p.Ser1566Thr)
c.4582T>A (p.Ser1528Thr)
c.4712T>A (p.Phe1571Tyr)
n.4711T>A
n.4727T>A
c.2926T>A (p.Ser976Thr)
c.2209T>A (p.Ser737Thr)
11g.68446502T>CCA381617062LRP5c.4555T>C (p.Ser1519Pro)
c.225T>C
c.*3161T>C (n.*3161T>C)
c.2812T>C (p.Ser938Pro)
c.4669T>C (p.Ser1557Pro)
c.4696T>C (p.Ser1566Pro)
c.4582T>C (p.Ser1528Pro)
c.4712T>C (p.Phe1571Ser)
n.4711T>C
n.4727T>C
c.2926T>C (p.Ser976Pro)
c.2209T>C (p.Ser737Pro)
11g.68446502T>GCA381617064LRP5c.4555T>G (p.Ser1519Ala)
c.225T>G
c.*3161T>G (n.*3161T>G)
c.2812T>G (p.Ser938Ala)
c.4669T>G (p.Ser1557Ala)
c.4696T>G (p.Ser1566Ala)
c.4582T>G (p.Ser1528Ala)
c.4712T>G (p.Phe1571Cys)
n.4711T>G
n.4727T>G
c.2926T>G (p.Ser976Ala)
c.2209T>G (p.Ser737Ala)
11g.68446503C>ACA381617066LRP5c.4556C>A (p.Ser1519Ter)
c.226C>A
c.*3162C>A (n.*3162C>A)
c.2813C>A (p.Ser938Ter)
c.4670C>A (p.Ser1557Ter)
c.4697C>A (p.Ser1566Ter)
c.4583C>A (p.Ser1528Ter)
c.4713C>A (p.Phe1571Leu)
n.4712C>A
n.4728C>A
c.2927C>A (p.Ser976Ter)
c.2210C>A (p.Ser737Ter)
11g.68446503C>GCA381617067LRP5c.4556C>G (p.Ser1519Ter)
c.226C>G
c.*3162C>G (n.*3162C>G)
c.2813C>G (p.Ser938Ter)
c.4670C>G (p.Ser1557Ter)
c.4697C>G (p.Ser1566Ter)
c.4583C>G (p.Ser1528Ter)
c.4713C>G (p.Phe1571Leu)
n.4712C>G
n.4728C>G
c.2927C>G (p.Ser976Ter)
c.2210C>G (p.Ser737Ter)
11g.68446503C>TCA381617069LRP5c.4556C>T (p.Ser1519Leu)
c.226C>T
c.*3162C>T (n.*3162C>T)
c.2813C>T (p.Ser938Leu)
c.4670C>T (p.Ser1557Leu)
c.4697C>T (p.Ser1566Leu)
c.4583C>T (p.Ser1528Leu)
c.4713C>T (p.Phe1571=)
n.4712C>T
n.4728C>T
c.2927C>T (p.Ser976Leu)
c.2210C>T (p.Ser737Leu)
11g.68446504A>CCA475462285LRP5c.4557A>C (p.Ser1519=)
c.227A>C
c.*3163A>C (n.*3163A>C)
c.2814A>C (p.Ser938=)
c.4671A>C (p.Ser1557=)
c.4698A>C (p.Ser1566=)
c.4584A>C (p.Ser1528=)
c.4714A>C (p.Lys1572Gln)
n.4713A>C
n.4729A>C
c.2928A>C (p.Ser976=)
c.2211A>C (p.Ser737=)
11g.68446504A>GCA475462286LRP5c.4557A>G (p.Ser1519=)
c.227A>G
c.*3163A>G (n.*3163A>G)
c.2814A>G (p.Ser938=)
c.4671A>G (p.Ser1557=)
c.4698A>G (p.Ser1566=)
c.4584A>G (p.Ser1528=)
c.4714A>G (p.Lys1572Glu)
n.4713A>G
n.4729A>G
c.2928A>G (p.Ser976=)
c.2211A>G (p.Ser737=)
11g.68446504A>TCA475462287LRP5c.4557A>T (p.Ser1519=)
c.227A>T
c.*3163A>T (n.*3163A>T)
c.2814A>T (p.Ser938=)
c.4671A>T (p.Ser1557=)
c.4698A>T (p.Ser1566=)
c.4584A>T (p.Ser1528=)
c.4714A>T (p.Lys1572Ter)
n.4713A>T
n.4729A>T
c.2928A>T (p.Ser976=)
c.2211A>T (p.Ser737=)
11g.68446505A>CCA381617071LRP5c.4558A>C (p.Asn1520His)
c.228A>C
c.*3164A>C (n.*3164A>C)
c.2815A>C (p.Asn939His)
c.4672A>C (p.Asn1558His)
c.4699A>C (p.Asn1567His)
c.4585A>C (p.Asn1529His)
c.4715A>C (p.Lys1572Thr)
n.4714A>C
n.4730A>C
c.2929A>C (p.Asn977His)
c.2212A>C (p.Asn738His)
11g.68446505A>GCA381617073LRP5c.4558A>G (p.Asn1520Asp)
c.228A>G
c.*3164A>G (n.*3164A>G)
c.2815A>G (p.Asn939Asp)
c.4672A>G (p.Asn1558Asp)
c.4699A>G (p.Asn1567Asp)
c.4585A>G (p.Asn1529Asp)
c.4715A>G (p.Lys1572Arg)
n.4714A>G
n.4730A>G
c.2929A>G (p.Asn977Asp)
c.2212A>G (p.Asn738Asp)
11g.68446505A>TCA381617075LRP5c.4558A>T (p.Asn1520Tyr)
c.228A>T
c.*3164A>T (n.*3164A>T)
c.2815A>T (p.Asn939Tyr)
c.4672A>T (p.Asn1558Tyr)
c.4699A>T (p.Asn1567Tyr)
c.4585A>T (p.Asn1529Tyr)
c.4715A>T (p.Lys1572Ile)
n.4714A>T
n.4730A>T
c.2929A>T (p.Asn977Tyr)
c.2212A>T (p.Asn738Tyr)
11g.68446506A>CCA381617079LRP5c.4559A>C (p.Asn1520Thr)
c.229A>C
c.*3165A>C (n.*3165A>C)
c.2816A>C (p.Asn939Thr)
c.4673A>C (p.Asn1558Thr)
c.4700A>C (p.Asn1567Thr)
c.4586A>C (p.Asn1529Thr)
c.4716A>C (p.Lys1572Asn)
n.4715A>C
n.4731A>C
c.2930A>C (p.Asn977Thr)
c.2213A>C (p.Asn738Thr)
11g.68446506A>GCA381617077LRP5c.4559A>G (p.Asn1520Ser)
c.229A>G
c.*3165A>G (n.*3165A>G)
c.2816A>G (p.Asn939Ser)
c.4673A>G (p.Asn1558Ser)
c.4700A>G (p.Asn1567Ser)
c.4586A>G (p.Asn1529Ser)
c.4716A>G (p.Lys1572=)
n.4715A>G
n.4731A>G
c.2930A>G (p.Asn977Ser)
c.2213A>G (p.Asn738Ser)
11g.68446506A>TCA381617078LRP5c.4559A>T (p.Asn1520Ile)
c.229A>T
c.*3165A>T (n.*3165A>T)
c.2816A>T (p.Asn939Ile)
c.4673A>T (p.Asn1558Ile)
c.4700A>T (p.Asn1567Ile)
c.4586A>T (p.Asn1529Ile)
c.4716A>T (p.Lys1572Asn)
n.4715A>T
n.4731A>T
c.2930A>T (p.Asn977Ile)
c.2213A>T (p.Asn738Ile)
11g.68446507C>ACA381617082LRP5c.4560C>A (p.Asn1520Lys)
c.230C>A
c.*3166C>A (n.*3166C>A)
c.2817C>A (p.Asn939Lys)
c.4674C>A (p.Asn1558Lys)
c.4701C>A (p.Asn1567Lys)
c.4587C>A (p.Asn1529Lys)
c.4717C>A (p.His1573Asn)
n.4716C>A
n.4732C>A
c.2931C>A (p.Asn977Lys)
c.2214C>A (p.Asn738Lys)
 gnomAD v4
11g.68446507C>GCA381617084LRP5c.4560C>G (p.Asn1520Lys)
c.230C>G
c.*3166C>G (n.*3166C>G)
c.2817C>G (p.Asn939Lys)
c.4674C>G (p.Asn1558Lys)
c.4701C>G (p.Asn1567Lys)
c.4587C>G (p.Asn1529Lys)
c.4717C>G (p.His1573Asp)
n.4716C>G
n.4732C>G
c.2931C>G (p.Asn977Lys)
c.2214C>G (p.Asn738Lys)
11g.68446507C>TCA475462288LRP5c.4560C>T (p.Asn1520=)
c.230C>T
c.*3166C>T (n.*3166C>T)
c.2817C>T (p.Asn939=)
c.4674C>T (p.Asn1558=)
c.4701C>T (p.Asn1567=)
c.4587C>T (p.Asn1529=)
c.4717C>T (p.His1573Tyr)
n.4716C>T
n.4732C>T
c.2931C>T (p.Asn977=)
c.2214C>T (p.Asn738=)
11g.68446508A=CA1980664511LRP5c.4561A= (p.Ile1521=)
c.231A=
c.*3167A= (n.*3167A=)
c.2818A= (p.Ile940=)
c.4675A= (p.Ile1559=)
c.4702A= (p.Ile1568=)
c.4588A= (p.Ile1530=)
c.4718A= (p.His1573=)
n.4717A=
n.4733A=
c.2932A= (p.Ile978=)
c.2215A= (p.Ile739=)
11g.68446508A>CCA381617086LRP5c.4561A>C (p.Ile1521Leu)
c.231A>C
c.*3167A>C (n.*3167A>C)
c.2818A>C (p.Ile940Leu)
c.4675A>C (p.Ile1559Leu)
c.4702A>C (p.Ile1568Leu)
c.4588A>C (p.Ile1530Leu)
c.4718A>C (p.His1573Pro)
n.4717A>C
n.4733A>C
c.2932A>C (p.Ile978Leu)
c.2215A>C (p.Ile739Leu)
11g.68446508A>GCA381617087LRP5c.4561A>G (p.Ile1521Val)
c.231A>G
c.*3167A>G (n.*3167A>G)
c.2818A>G (p.Ile940Val)
c.4675A>G (p.Ile1559Val)
c.4702A>G (p.Ile1568Val)
c.4588A>G (p.Ile1530Val)
c.4718A>G (p.His1573Arg)
n.4717A>G
n.4733A>G
c.2932A>G (p.Ile978Val)
c.2215A>G (p.Ile739Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.68446508A>TCA381617089LRP5c.4561A>T (p.Ile1521Phe)
c.231A>T
c.*3167A>T (n.*3167A>T)
c.2818A>T (p.Ile940Phe)
c.4675A>T (p.Ile1559Phe)
c.4702A>T (p.Ile1568Phe)
c.4588A>T (p.Ile1530Phe)
c.4718A>T (p.His1573Leu)
n.4717A>T
n.4733A>T
c.2932A>T (p.Ile978Phe)
c.2215A>T (p.Ile739Phe)
11g.68446509T>ACA381617091LRP5c.4562T>A (p.Ile1521Asn)
c.232T>A
c.*3168T>A (n.*3168T>A)
c.2819T>A (p.Ile940Asn)
c.4676T>A (p.Ile1559Asn)
c.4703T>A (p.Ile1568Asn)
c.4589T>A (p.Ile1530Asn)
c.4719T>A (p.His1573Gln)
n.4718T>A
n.4734T>A
c.2933T>A (p.Ile978Asn)
c.2216T>A (p.Ile739Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.68446509T>CCA381617093LRP5c.4562T>C (p.Ile1521Thr)
c.232T>C
c.*3168T>C (n.*3168T>C)
c.2819T>C (p.Ile940Thr)
c.4676T>C (p.Ile1559Thr)
c.4703T>C (p.Ile1568Thr)
c.4589T>C (p.Ile1530Thr)
c.4719T>C (p.His1573=)
n.4718T>C
n.4734T>C
c.2933T>C (p.Ile978Thr)
c.2216T>C (p.Ile739Thr)
11g.68446509T>GCA381617095LRP5c.4562T>G (p.Ile1521Ser)
c.232T>G
c.*3168T>G (n.*3168T>G)
c.2819T>G (p.Ile940Ser)
c.4676T>G (p.Ile1559Ser)
c.4703T>G (p.Ile1568Ser)
c.4589T>G (p.Ile1530Ser)
c.4719T>G (p.His1573Gln)
n.4718T>G
n.4734T>G
c.2933T>G (p.Ile978Ser)
c.2216T>G (p.Ile739Ser)
11g.68446509T=CA1980664514LRP5c.4562T= (p.Ile1521=)
c.232T=
c.*3168T= (n.*3168T=)
c.2819T= (p.Ile940=)
c.4676T= (p.Ile1559=)
c.4703T= (p.Ile1568=)
c.4589T= (p.Ile1530=)
c.4719T= (p.His1573=)
n.4718T=
n.4734T=
c.2933T= (p.Ile978=)
c.2216T= (p.Ile739=)
11g.68446510T>ACA475462292LRP5c.4563T>A (p.Ile1521=)
c.233T>A
c.*3169T>A (n.*3169T>A)
c.2820T>A (p.Ile940=)
c.4677T>A (p.Ile1559=)
c.4704T>A (p.Ile1568=)
c.4590T>A (p.Ile1530=)
c.4720T>A (p.Ser1574Thr)
n.4719T>A
n.4735T>A
c.2934T>A (p.Ile978=)
c.2217T>A (p.Ile739=)
11g.68446510T>CCA475462293LRP5c.4563T>C (p.Ile1521=)
c.233T>C
c.*3169T>C (n.*3169T>C)
c.2820T>C (p.Ile940=)
c.4677T>C (p.Ile1559=)
c.4704T>C (p.Ile1568=)
c.4590T>C (p.Ile1530=)
c.4720T>C (p.Ser1574Pro)
n.4719T>C
n.4735T>C
c.2934T>C (p.Ile978=)
c.2217T>C (p.Ile739=)
11g.68446510T>GCA381617098LRP5c.4563T>G (p.Ile1521Met)
c.233T>G
c.*3169T>G (n.*3169T>G)
c.2820T>G (p.Ile940Met)
c.4677T>G (p.Ile1559Met)
c.4704T>G (p.Ile1568Met)
c.4590T>G (p.Ile1530Met)
c.4720T>G (p.Ser1574Ala)
n.4719T>G
n.4735T>G
c.2934T>G (p.Ile978Met)
c.2217T>G (p.Ile739Met)
11g.68446511C>ACA6150424LRP5c.4564C>A (p.Pro1522Thr)
c.234C>A
c.*3170C>A (n.*3170C>A)
c.2821C>A (p.Pro941Thr)
c.4678C>A (p.Pro1560Thr)
c.4705C>A (p.Pro1569Thr)
c.4591C>A (p.Pro1531Thr)
c.4721C>A (p.Ser1574Tyr)
n.4720C>A
n.4736C>A
c.2935C>A (p.Pro979Thr)
c.2218C>A (p.Pro740Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68446511C=CA1980664517LRP5c.4564C= (p.Pro1522=)
c.234C=
c.*3170C= (n.*3170C=)
c.2821C= (p.Pro941=)
c.4678C= (p.Pro1560=)
c.4705C= (p.Pro1569=)
c.4591C= (p.Pro1531=)
c.4721C= (p.Ser1574=)
n.4720C=
n.4736C=
c.2935C= (p.Pro979=)
c.2218C= (p.Pro740=)
11g.68446511C>GCA381617101LRP5c.4564C>G (p.Pro1522Ala)
c.234C>G
c.*3170C>G (n.*3170C>G)
c.2821C>G (p.Pro941Ala)
c.4678C>G (p.Pro1560Ala)
c.4705C>G (p.Pro1569Ala)
c.4591C>G (p.Pro1531Ala)
c.4721C>G (p.Ser1574Cys)
n.4720C>G
n.4736C>G
c.2935C>G (p.Pro979Ala)
c.2218C>G (p.Pro740Ala)
11g.68446511C>TCA381617103LRP5c.4564C>T (p.Pro1522Ser)
c.234C>T
c.*3170C>T (n.*3170C>T)
c.2821C>T (p.Pro941Ser)
c.4678C>T (p.Pro1560Ser)
c.4705C>T (p.Pro1569Ser)
c.4591C>T (p.Pro1531Ser)
c.4721C>T (p.Ser1574Phe)
n.4720C>T
n.4736C>T
c.2935C>T (p.Pro979Ser)
c.2218C>T (p.Pro740Ser)
 gnomAD v4
11g.68446512C>ACA381617105LRP5c.4565C>A (p.Pro1522Gln)
c.235C>A
c.*3171C>A (n.*3171C>A)
c.2822C>A (p.Pro941Gln)
c.4679C>A (p.Pro1560Gln)
c.4706C>A (p.Pro1569Gln)
c.4592C>A (p.Pro1531Gln)
c.4722C>A (p.Ser1574=)
n.4721C>A
n.4737C>A
c.2936C>A (p.Pro979Gln)
c.2219C>A (p.Pro740Gln)
11g.68446512C=CA1980664524LRP5c.4565C= (p.Pro1522=)
c.235C=
c.*3171C= (n.*3171C=)
c.2822C= (p.Pro941=)
c.4679C= (p.Pro1560=)
c.4706C= (p.Pro1569=)
c.4592C= (p.Pro1531=)
c.4722C= (p.Ser1574=)
n.4721C=
n.4737C=
c.2936C= (p.Pro979=)
c.2219C= (p.Pro740=)
11g.68446512C>GCA381617107LRP5c.4565C>G (p.Pro1522Arg)
c.235C>G
c.*3171C>G (n.*3171C>G)
c.2822C>G (p.Pro941Arg)
c.4679C>G (p.Pro1560Arg)
c.4706C>G (p.Pro1569Arg)
c.4592C>G (p.Pro1531Arg)
c.4722C>G (p.Ser1574=)
n.4721C>G
n.4737C>G
c.2936C>G (p.Pro979Arg)
c.2219C>G (p.Pro740Arg)
11g.68446512C>TCA242195LRP5c.4565C>T (p.Pro1522Leu)
c.235C>T
c.*3171C>T (n.*3171C>T)
c.2822C>T (p.Pro941Leu)
c.4679C>T (p.Pro1560Leu)
c.4706C>T (p.Pro1569Leu)
c.4592C>T (p.Pro1531Leu)
c.4722C>T (p.Ser1574=)
n.4721C>T
n.4737C>T
c.2936C>T (p.Pro979Leu)
c.2219C>T (p.Pro740Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68446513G>ACA6150425LRP5c.4566G>A (p.Pro1522=)
c.236G>A
c.*3172G>A (n.*3172G>A)
c.2823G>A (p.Pro941=)
c.4680G>A (p.Pro1560=)
c.4707G>A (p.Pro1569=)
c.4593G>A (p.Pro1531=)
c.4723G>A (p.Gly1575Ser)
n.4722G>A
n.4738G>A
c.2937G>A (p.Pro979=)
c.2220G>A (p.Pro740=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68446513G>CCA475462297LRP5c.4566G>C (p.Pro1522=)
c.236G>C
c.*3172G>C (n.*3172G>C)
c.2823G>C (p.Pro941=)
c.4680G>C (p.Pro1560=)
c.4707G>C (p.Pro1569=)
c.4593G>C (p.Pro1531=)
c.4723G>C (p.Gly1575Arg)
n.4722G>C
n.4738G>C
c.2937G>C (p.Pro979=)
c.2220G>C (p.Pro740=)
 gnomAD v4
11g.68446513G=CA1980664529LRP5c.4566G= (p.Pro1522=)
c.236G=
c.*3172G= (n.*3172G=)
c.2823G= (p.Pro941=)
c.4680G= (p.Pro1560=)
c.4707G= (p.Pro1569=)
c.4593G= (p.Pro1531=)
c.4723G= (p.Gly1575=)
n.4722G=
n.4738G=
c.2937G= (p.Pro979=)
c.2220G= (p.Pro740=)
11g.68446513G>TCA475462298LRP5c.4566G>T (p.Pro1522=)
c.236G>T
c.*3172G>T (n.*3172G>T)
c.2823G>T (p.Pro941=)
c.4680G>T (p.Pro1560=)
c.4707G>T (p.Pro1569=)
c.4593G>T (p.Pro1531=)
c.4723G>T (p.Gly1575Cys)
n.4722G>T
n.4738G>T
c.2937G>T (p.Pro979=)
c.2220G>T (p.Pro740=)
11g.68446514G>ACA381617111LRP5c.4567G>A (p.Ala1523Thr)
c.237G>A
c.*3173G>A (n.*3173G>A)
c.2824G>A (p.Ala942Thr)
c.4681G>A (p.Ala1561Thr)
c.4708G>A (p.Ala1570Thr)
c.4594G>A (p.Ala1532Thr)
c.4724G>A (p.Gly1575Asp)
n.4723G>A
n.4739G>A
c.2938G>A (p.Ala980Thr)
c.2221G>A (p.Ala741Thr)
11g.68446514G>CCA381617113LRP5c.4567G>C (p.Ala1523Pro)
c.237G>C
c.*3173G>C (n.*3173G>C)
c.2824G>C (p.Ala942Pro)
c.4681G>C (p.Ala1561Pro)
c.4708G>C (p.Ala1570Pro)
c.4594G>C (p.Ala1532Pro)
c.4724G>C (p.Gly1575Ala)
n.4723G>C
n.4739G>C
c.2938G>C (p.Ala980Pro)
c.2221G>C (p.Ala741Pro)
11g.68446514G=CA1980664534LRP5c.4567G= (p.Ala1523=)
c.237G=
c.*3173G= (n.*3173G=)
c.2824G= (p.Ala942=)
c.4681G= (p.Ala1561=)
c.4708G= (p.Ala1570=)
c.4594G= (p.Ala1532=)
c.4724G= (p.Gly1575=)
n.4723G=
n.4739G=
c.2938G= (p.Ala980=)
c.2221G= (p.Ala741=)
11g.68446514G>TCA224259431LRP5c.4567G>T (p.Ala1523Ser)
c.237G>T
c.*3173G>T (n.*3173G>T)
c.2824G>T (p.Ala942Ser)
c.4681G>T (p.Ala1561Ser)
c.4708G>T (p.Ala1570Ser)
c.4594G>T (p.Ala1532Ser)
c.4724G>T (p.Gly1575Val)
n.4723G>T
n.4739G>T
c.2938G>T (p.Ala980Ser)
c.2221G>T (p.Ala741Ser)
 ClinVar dbSNP gnomAD v4
11g.68446515C>ACA381617116LRP5c.4568C>A (p.Ala1523Asp)
c.238C>A
c.*3174C>A (n.*3174C>A)
c.2825C>A (p.Ala942Asp)
c.4682C>A (p.Ala1561Asp)
c.4709C>A (p.Ala1570Asp)
c.4595C>A (p.Ala1532Asp)
c.4725C>A (p.Gly1575=)
n.4724C>A
n.4740C>A
c.2939C>A (p.Ala980Asp)
c.2222C>A (p.Ala741Asp)
11g.68446515C>GCA381617118LRP5c.4568C>G (p.Ala1523Gly)
c.238C>G
c.*3174C>G (n.*3174C>G)
c.2825C>G (p.Ala942Gly)
c.4682C>G (p.Ala1561Gly)
c.4709C>G (p.Ala1570Gly)
c.4595C>G (p.Ala1532Gly)
c.4725C>G (p.Gly1575=)
n.4724C>G
n.4740C>G
c.2939C>G (p.Ala980Gly)
c.2222C>G (p.Ala741Gly)
11g.68446515C>TCA381617120LRP5c.4568C>T (p.Ala1523Val)
c.238C>T
c.*3174C>T (n.*3174C>T)
c.2825C>T (p.Ala942Val)
c.4682C>T (p.Ala1561Val)
c.4709C>T (p.Ala1570Val)
c.4595C>T (p.Ala1532Val)
c.4725C>T (p.Gly1575=)
n.4724C>T
n.4740C>T
c.2939C>T (p.Ala980Val)
c.2222C>T (p.Ala741Val)
11g.68446516C>ACA475462300LRP5c.4569C>A (p.Ala1523=)
c.239C>A
c.*3175C>A (n.*3175C>A)
c.2826C>A (p.Ala942=)
c.4683C>A (p.Ala1561=)
c.4710C>A (p.Ala1570=)
c.4596C>A (p.Ala1532=)
c.4726C>A (p.His1576Asn)
n.4725C>A
n.4741C>A
c.2940C>A (p.Ala980=)
c.2223C>A (p.Ala741=)
11g.68446516C=CA1980664539LRP5c.4569C= (p.Ala1523=)
c.239C=
c.*3175C= (n.*3175C=)
c.2826C= (p.Ala942=)
c.4683C= (p.Ala1561=)
c.4710C= (p.Ala1570=)
c.4596C= (p.Ala1532=)
c.4726C= (p.His1576=)
n.4725C=
n.4741C=
c.2940C= (p.Ala980=)
c.2223C= (p.Ala741=)
11g.68446516C>GCA475462301LRP5c.4569C>G (p.Ala1523=)
c.239C>G
c.*3175C>G (n.*3175C>G)
c.2826C>G (p.Ala942=)
c.4683C>G (p.Ala1561=)
c.4710C>G (p.Ala1570=)
c.4596C>G (p.Ala1532=)
c.4726C>G (p.His1576Asp)
n.4725C>G
n.4741C>G
c.2940C>G (p.Ala980=)
c.2223C>G (p.Ala741=)
11g.68446516C>TCA6150426LRP5c.4569C>T (p.Ala1523=)
c.239C>T
c.*3175C>T (n.*3175C>T)
c.2826C>T (p.Ala942=)
c.4683C>T (p.Ala1561=)
c.4710C>T (p.Ala1570=)
c.4596C>T (p.Ala1532=)
c.4726C>T (p.His1576Tyr)
n.4725C>T
n.4741C>T
c.2940C>T (p.Ala980=)
c.2223C>T (p.Ala741=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68446518_68446532delCA475462302LRP5c.4571_4585del (p.Thr1524_Tyr1528del)
c.241_255del
c.*3177_*3191del (n.*3177_*3191del)
c.2828_2842del (p.Thr943_Tyr947del)
c.4685_4699del (p.Thr1562_Tyr1566del)
c.4712_4726del (p.Thr1571_Tyr1575del)
c.4598_4612del (p.Thr1533_Tyr1537del)
c.4728_4742del (p.His1576_Val1580del)
n.4727_4741del
n.4743_4757del
c.2942_2956del (p.Thr981_Tyr985del)
c.2225_2239del (p.Thr742_Tyr746del)
 ClinVar
11g.68446517A=CA1980664541LRP5c.4570A= (p.Thr1524=)
c.240A=
c.*3176A= (n.*3176A=)
c.2827A= (p.Thr943=)
c.4684A= (p.Thr1562=)
c.4711A= (p.Thr1571=)
c.4597A= (p.Thr1533=)
c.4727A= (p.His1576=)
n.4726A=
n.4742A=
c.2941A= (p.Thr981=)
c.2224A= (p.Thr742=)
11g.68446517A>CCA381617123LRP5c.4570A>C (p.Thr1524Pro)
c.240A>C
c.*3176A>C (n.*3176A>C)
c.2827A>C (p.Thr943Pro)
c.4684A>C (p.Thr1562Pro)
c.4711A>C (p.Thr1571Pro)
c.4597A>C (p.Thr1533Pro)
c.4727A>C (p.His1576Pro)
n.4726A>C
n.4742A>C
c.2941A>C (p.Thr981Pro)
c.2224A>C (p.Thr742Pro)
 dbSNP gnomAD v2 gnomAD v4
11g.68446517A>GCA381617124LRP5c.4570A>G (p.Thr1524Ala)
c.240A>G
c.*3176A>G (n.*3176A>G)
c.2827A>G (p.Thr943Ala)
c.4684A>G (p.Thr1562Ala)
c.4711A>G (p.Thr1571Ala)
c.4597A>G (p.Thr1533Ala)
c.4727A>G (p.His1576Arg)
n.4726A>G
n.4742A>G
c.2941A>G (p.Thr981Ala)
c.2224A>G (p.Thr742Ala)
11g.68446517A>TCA381617126LRP5c.4570A>T (p.Thr1524Ser)
c.240A>T
c.*3176A>T (n.*3176A>T)
c.2827A>T (p.Thr943Ser)
c.4684A>T (p.Thr1562Ser)
c.4711A>T (p.Thr1571Ser)
c.4597A>T (p.Thr1533Ser)
c.4727A>T (p.His1576Leu)
n.4726A>T
n.4742A>T
c.2941A>T (p.Thr981Ser)
c.2224A>T (p.Thr742Ser)
11g.68446518C>ACA381617129LRP5c.4571C>A (p.Thr1524Asn)
c.241C>A
c.*3177C>A (n.*3177C>A)
c.2828C>A (p.Thr943Asn)
c.4685C>A (p.Thr1562Asn)
c.4712C>A (p.Thr1571Asn)
c.4598C>A (p.Thr1533Asn)
c.4728C>A (p.His1576Gln)
n.4727C>A
n.4743C>A
c.2942C>A (p.Thr981Asn)
c.2225C>A (p.Thr742Asn)
11g.68446518C=CA1980664546LRP5c.4571C= (p.Thr1524=)
c.241C=
c.*3177C= (n.*3177C=)
c.2828C= (p.Thr943=)
c.4685C= (p.Thr1562=)
c.4712C= (p.Thr1571=)
c.4598C= (p.Thr1533=)
c.4728C= (p.His1576=)
n.4727C=
n.4743C=
c.2942C= (p.Thr981=)
c.2225C= (p.Thr742=)
11g.68446518C>GCA381617130LRP5c.4571C>G (p.Thr1524Ser)
c.241C>G
c.*3177C>G (n.*3177C>G)
c.2828C>G (p.Thr943Ser)
c.4685C>G (p.Thr1562Ser)
c.4712C>G (p.Thr1571Ser)
c.4598C>G (p.Thr1533Ser)
c.4728C>G (p.His1576Gln)
n.4727C>G
n.4743C>G
c.2942C>G (p.Thr981Ser)
c.2225C>G (p.Thr742Ser)
 dbSNP
11g.68446518C>TCA381617132LRP5c.4571C>T (p.Thr1524Ile)
c.241C>T
c.*3177C>T (n.*3177C>T)
c.2828C>T (p.Thr943Ile)
c.4685C>T (p.Thr1562Ile)
c.4712C>T (p.Thr1571Ile)
c.4598C>T (p.Thr1533Ile)
c.4728C>T (p.His1576=)
n.4727C>T
n.4743C>T
c.2942C>T (p.Thr981Ile)
c.2225C>T (p.Thr742Ile)
11g.68446519T>ACA475462306LRP5c.4572T>A (p.Thr1524=)
c.242T>A
c.*3178T>A (n.*3178T>A)
c.2829T>A (p.Thr943=)
c.4686T>A (p.Thr1562=)
c.4713T>A (p.Thr1571=)
c.4599T>A (p.Thr1533=)
c.4729T>A (p.Cys1577Ser)
n.4728T>A
n.4744T>A
c.2943T>A (p.Thr981=)
c.2226T>A (p.Thr742=)
 dbSNP gnomAD v2 gnomAD v4
11g.68446519T>CCA475462308LRP5c.4572T>C (p.Thr1524=)
c.242T>C
c.*3178T>C (n.*3178T>C)
c.2829T>C (p.Thr943=)
c.4686T>C (p.Thr1562=)
c.4713T>C (p.Thr1571=)
c.4599T>C (p.Thr1533=)
c.4729T>C (p.Cys1577Arg)
n.4728T>C
n.4744T>C
c.2943T>C (p.Thr981=)
c.2226T>C (p.Thr742=)
11g.68446519T>GCA475462307LRP5c.4572T>G (p.Thr1524=)
c.242T>G
c.*3178T>G (n.*3178T>G)
c.2829T>G (p.Thr943=)
c.4686T>G (p.Thr1562=)
c.4713T>G (p.Thr1571=)
c.4599T>G (p.Thr1533=)
c.4729T>G (p.Cys1577Gly)
n.4728T>G
n.4744T>G
c.2943T>G (p.Thr981=)
c.2226T>G (p.Thr742=)
 ClinVar dbSNP
11g.68446519T=CA1980664548LRP5c.4572T= (p.Thr1524=)
c.242T=
c.*3178T= (n.*3178T=)
c.2829T= (p.Thr943=)
c.4686T= (p.Thr1562=)
c.4713T= (p.Thr1571=)
c.4599T= (p.Thr1533=)
c.4729T= (p.Cys1577=)
n.4728T=
n.4744T=
c.2943T= (p.Thr981=)
c.2226T= (p.Thr742=)
11g.68446520G>ACA381617134LRP5c.4573G>A (p.Ala1525Thr)
c.243G>A
c.*3179G>A (n.*3179G>A)
c.2830G>A (p.Ala944Thr)
c.4687G>A (p.Ala1563Thr)
c.4714G>A (p.Ala1572Thr)
c.4600G>A (p.Ala1534Thr)
c.4730G>A (p.Cys1577Tyr)
n.4729G>A
n.4745G>A
c.2944G>A (p.Ala982Thr)
c.2227G>A (p.Ala743Thr)
11g.68446520G>CCA381617138LRP5c.4573G>C (p.Ala1525Pro)
c.243G>C
c.*3179G>C (n.*3179G>C)
c.2830G>C (p.Ala944Pro)
c.4687G>C (p.Ala1563Pro)
c.4714G>C (p.Ala1572Pro)
c.4600G>C (p.Ala1534Pro)
c.4730G>C (p.Cys1577Ser)
n.4729G>C
n.4745G>C
c.2944G>C (p.Ala982Pro)
c.2227G>C (p.Ala743Pro)
11g.68446520G>TCA381617136LRP5c.4573G>T (p.Ala1525Ser)
c.243G>T
c.*3179G>T (n.*3179G>T)
c.2830G>T (p.Ala944Ser)
c.4687G>T (p.Ala1563Ser)
c.4714G>T (p.Ala1572Ser)
c.4600G>T (p.Ala1534Ser)
c.4730G>T (p.Cys1577Phe)
n.4729G>T
n.4745G>T
c.2944G>T (p.Ala982Ser)
c.2227G>T (p.Ala743Ser)
11g.68446521C>ACA381617139LRP5c.4574C>A (p.Ala1525Glu)
c.244C>A
c.*3180C>A (n.*3180C>A)
c.2831C>A (p.Ala944Glu)
c.4688C>A (p.Ala1563Glu)
c.4715C>A (p.Ala1572Glu)
c.4601C>A (p.Ala1534Glu)
c.4731C>A (p.Cys1577Ter)
n.4730C>A
n.4746C>A
c.2945C>A (p.Ala982Glu)
c.2228C>A (p.Ala743Glu)
11g.68446521C=CA1980664559LRP5c.4574C= (p.Ala1525=)
c.244C=
c.*3180C= (n.*3180C=)
c.2831C= (p.Ala944=)
c.4688C= (p.Ala1563=)
c.4715C= (p.Ala1572=)
c.4601C= (p.Ala1534=)
c.4731C= (p.Cys1577=)
n.4730C=
n.4746C=
c.2945C= (p.Ala982=)
c.2228C= (p.Ala743=)
11g.68446521C>GCA224259441LRP5c.4574C>G (p.Ala1525Gly)
c.244C>G
c.*3180C>G (n.*3180C>G)
c.2831C>G (p.Ala944Gly)
c.4688C>G (p.Ala1563Gly)
c.4715C>G (p.Ala1572Gly)
c.4601C>G (p.Ala1534Gly)
c.4731C>G (p.Cys1577Trp)
n.4730C>G
n.4746C>G
c.2945C>G (p.Ala982Gly)
c.2228C>G (p.Ala743Gly)
 dbSNP gnomAD v4
11g.68446521C>TCA201884LRP5c.4574C>T (p.Ala1525Val)
c.244C>T
c.*3180C>T (n.*3180C>T)
c.2831C>T (p.Ala944Val)
c.4688C>T (p.Ala1563Val)
c.4715C>T (p.Ala1572Val)
c.4601C>T (p.Ala1534Val)
c.4731C>T (p.Cys1577=)
n.4730C>T
n.4746C>T
c.2945C>T (p.Ala982Val)
c.2228C>T (p.Ala743Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68446522G>ACA475462314LRP5c.4575G>A (p.Ala1525=)
c.245G>A
c.*3181G>A (n.*3181G>A)
c.2832G>A (p.Ala944=)
c.4689G>A (p.Ala1563=)
c.4716G>A (p.Ala1572=)
c.4602G>A (p.Ala1534=)
c.4732G>A (p.Glu1578Lys)
n.4731G>A
n.4747G>A
c.2946G>A (p.Ala982=)
c.2229G>A (p.Ala743=)
 ClinVar gnomAD v4 COSMIC
11g.68446522G>CCA475462316LRP5c.4575G>C (p.Ala1525=)
c.245G>C
c.*3181G>C (n.*3181G>C)
c.2832G>C (p.Ala944=)
c.4689G>C (p.Ala1563=)
c.4716G>C (p.Ala1572=)
c.4602G>C (p.Ala1534=)
c.4732G>C (p.Glu1578Gln)
n.4731G>C
n.4747G>C
c.2946G>C (p.Ala982=)
c.2229G>C (p.Ala743=)
11g.68446522G>TCA475462318LRP5c.4575G>T (p.Ala1525=)
c.245G>T
c.*3181G>T (n.*3181G>T)
c.2832G>T (p.Ala944=)
c.4689G>T (p.Ala1563=)
c.4716G>T (p.Ala1572=)
c.4602G>T (p.Ala1534=)
c.4732G>T (p.Glu1578Ter)
n.4731G>T
n.4747G>T
c.2946G>T (p.Ala982=)
c.2229G>T (p.Ala743=)
11g.68446523A>CCA475462320LRP5c.4576A>C (p.Arg1526=)
c.246A>C
c.*3182A>C (n.*3182A>C)
c.2833A>C (p.Arg945=)
c.4690A>C (p.Arg1564=)
c.4717A>C (p.Arg1573=)
c.4603A>C (p.Arg1535=)
c.4733A>C (p.Glu1578Ala)
n.4732A>C
n.4748A>C
c.2947A>C (p.Arg983=)
c.2230A>C (p.Arg744=)
11g.68446523A>GCA381617143LRP5c.4576A>G (p.Arg1526Gly)
c.246A>G
c.*3182A>G (n.*3182A>G)
c.2833A>G (p.Arg945Gly)
c.4690A>G (p.Arg1564Gly)
c.4717A>G (p.Arg1573Gly)
c.4603A>G (p.Arg1535Gly)
c.4733A>G (p.Glu1578Gly)
n.4732A>G
n.4748A>G
c.2947A>G (p.Arg983Gly)
c.2230A>G (p.Arg744Gly)
11g.68446523A>TCA381617145LRP5c.4576A>T (p.Arg1526Ter)
c.246A>T
c.*3182A>T (n.*3182A>T)
c.2833A>T (p.Arg945Ter)
c.4690A>T (p.Arg1564Ter)
c.4717A>T (p.Arg1573Ter)
c.4603A>T (p.Arg1535Ter)
c.4733A>T (p.Glu1578Val)
n.4732A>T
n.4748A>T
c.2947A>T (p.Arg983Ter)
c.2230A>T (p.Arg744Ter)
11g.68446524G>ACA381617147LRP5c.4577G>A (p.Arg1526Lys)
c.247G>A
c.*3183G>A (n.*3183G>A)
c.2834G>A (p.Arg945Lys)
c.4691G>A (p.Arg1564Lys)
c.4718G>A (p.Arg1573Lys)
c.4604G>A (p.Arg1535Lys)
c.4734G>A (p.Glu1578=)
n.4733G>A
n.4749G>A
c.2948G>A (p.Arg983Lys)
c.2231G>A (p.Arg744Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.68446524G>CCA381617149LRP5c.4577G>C (p.Arg1526Thr)
c.247G>C
c.*3183G>C (n.*3183G>C)
c.2834G>C (p.Arg945Thr)
c.4691G>C (p.Arg1564Thr)
c.4718G>C (p.Arg1573Thr)
c.4604G>C (p.Arg1535Thr)
c.4734G>C (p.Glu1578Asp)
n.4733G>C
n.4749G>C
c.2948G>C (p.Arg983Thr)
c.2231G>C (p.Arg744Thr)
11g.68446524G=CA1980664562LRP5c.4577G= (p.Arg1526=)
c.247G=
c.*3183G= (n.*3183G=)
c.2834G= (p.Arg945=)
c.4691G= (p.Arg1564=)
c.4718G= (p.Arg1573=)
c.4604G= (p.Arg1535=)
c.4734G= (p.Glu1578=)
n.4733G=
n.4749G=
c.2948G= (p.Arg983=)
c.2231G= (p.Arg744=)
11g.68446524G>TCA381617152LRP5c.4577G>T (p.Arg1526Ile)
c.247G>T
c.*3183G>T (n.*3183G>T)
c.2834G>T (p.Arg945Ile)
c.4691G>T (p.Arg1564Ile)
c.4718G>T (p.Arg1573Ile)
c.4604G>T (p.Arg1535Ile)
c.4734G>T (p.Glu1578Asp)
n.4733G>T
n.4749G>T
c.2948G>T (p.Arg983Ile)
c.2231G>T (p.Arg744Ile)
 COSMIC
11g.68446525A=CA1980664564LRP5c.4578A= (p.Arg1526=)
c.248A=
c.*3184A= (n.*3184A=)
c.2835A= (p.Arg945=)
c.4692A= (p.Arg1564=)
c.4719A= (p.Arg1573=)
c.4605A= (p.Arg1535=)
c.4735A= (p.Thr1579=)
n.4734A=
n.4750A=
c.2949A= (p.Arg983=)
c.2232A= (p.Arg744=)
11g.68446525A>CCA381617154LRP5c.4578A>C (p.Arg1526Ser)
c.248A>C
c.*3184A>C (n.*3184A>C)
c.2835A>C (p.Arg945Ser)
c.4692A>C (p.Arg1564Ser)
c.4719A>C (p.Arg1573Ser)
c.4605A>C (p.Arg1535Ser)
c.4735A>C (p.Thr1579Pro)
n.4734A>C
n.4750A>C
c.2949A>C (p.Arg983Ser)
c.2232A>C (p.Arg744Ser)
11g.68446525A>GCA6150427LRP5c.4578A>G (p.Arg1526=)
c.248A>G
c.*3184A>G (n.*3184A>G)
c.2835A>G (p.Arg945=)
c.4692A>G (p.Arg1564=)
c.4719A>G (p.Arg1573=)
c.4605A>G (p.Arg1535=)
c.4735A>G (p.Thr1579Ala)
n.4734A>G
n.4750A>G
c.2949A>G (p.Arg983=)
c.2232A>G (p.Arg744=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68446525A>TCA381617157LRP5c.4578A>T (p.Arg1526Ser)
c.248A>T
c.*3184A>T (n.*3184A>T)
c.2835A>T (p.Arg945Ser)
c.4692A>T (p.Arg1564Ser)
c.4719A>T (p.Arg1573Ser)
c.4605A>T (p.Arg1535Ser)
c.4735A>T (p.Thr1579Ser)
n.4734A>T
n.4750A>T
c.2949A>T (p.Arg983Ser)
c.2232A>T (p.Arg744Ser)
11g.68446526C>ACA6150429LRP5c.4579C>A (p.Pro1527Thr)
c.249C>A
c.*3185C>A (n.*3185C>A)
c.2836C>A (p.Pro946Thr)
c.4693C>A (p.Pro1565Thr)
c.4720C>A (p.Pro1574Thr)
c.4606C>A (p.Pro1536Thr)
c.4736C>A (p.Thr1579Asn)
n.4735C>A
n.4751C>A
c.2950C>A (p.Pro984Thr)
c.2233C>A (p.Pro745Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68446526C=CA1980664566LRP5c.4579C= (p.Pro1527=)
c.249C=
c.*3185C= (n.*3185C=)
c.2836C= (p.Pro946=)
c.4693C= (p.Pro1565=)
c.4720C= (p.Pro1574=)
c.4606C= (p.Pro1536=)
c.4736C= (p.Thr1579=)
n.4735C=
n.4751C=
c.2950C= (p.Pro984=)
c.2233C= (p.Pro745=)
11g.68446526C>GCA381617161LRP5c.4579C>G (p.Pro1527Ala)
c.249C>G
c.*3185C>G (n.*3185C>G)
c.2836C>G (p.Pro946Ala)
c.4693C>G (p.Pro1565Ala)
c.4720C>G (p.Pro1574Ala)
c.4606C>G (p.Pro1536Ala)
c.4736C>G (p.Thr1579Ser)
n.4735C>G
n.4751C>G
c.2950C>G (p.Pro984Ala)
c.2233C>G (p.Pro745Ala)
11g.68446526C>TCA6150428LRP5c.4579C>T (p.Pro1527Ser)
c.249C>T
c.*3185C>T (n.*3185C>T)
c.2836C>T (p.Pro946Ser)
c.4693C>T (p.Pro1565Ser)
c.4720C>T (p.Pro1574Ser)
c.4606C>T (p.Pro1536Ser)
c.4736C>T (p.Thr1579Ile)
n.4735C>T
n.4751C>T
c.2950C>T (p.Pro984Ser)
c.2233C>T (p.Pro745Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68446527C>ACA381617165LRP5c.4580C>A (p.Pro1527Gln)
c.250C>A
c.*3186C>A (n.*3186C>A)
c.2837C>A (p.Pro946Gln)
c.4694C>A (p.Pro1565Gln)
c.4721C>A (p.Pro1574Gln)
c.4607C>A (p.Pro1536Gln)
c.4737C>A (p.Thr1579=)
n.4736C>A
n.4752C>A
c.2951C>A (p.Pro984Gln)
c.2234C>A (p.Pro745Gln)
11g.68446527C=CA1980664571LRP5c.4580C= (p.Pro1527=)
c.250C=
c.*3186C= (n.*3186C=)
c.2837C= (p.Pro946=)
c.4694C= (p.Pro1565=)
c.4721C= (p.Pro1574=)
c.4607C= (p.Pro1536=)
c.4737C= (p.Thr1579=)
n.4736C=
n.4752C=
c.2951C= (p.Pro984=)
c.2234C= (p.Pro745=)
11g.68446527C>GCA381617163LRP5c.4580C>G (p.Pro1527Arg)
c.250C>G
c.*3186C>G (n.*3186C>G)
c.2837C>G (p.Pro946Arg)
c.4694C>G (p.Pro1565Arg)
c.4721C>G (p.Pro1574Arg)
c.4607C>G (p.Pro1536Arg)
c.4737C>G (p.Thr1579=)
n.4736C>G
n.4752C>G
c.2951C>G (p.Pro984Arg)
c.2234C>G (p.Pro745Arg)
 gnomAD v4
11g.68446527C>TCA6150430LRP5c.4580C>T (p.Pro1527Leu)
c.250C>T
c.*3186C>T (n.*3186C>T)
c.2837C>T (p.Pro946Leu)
c.4694C>T (p.Pro1565Leu)
c.4721C>T (p.Pro1574Leu)
c.4607C>T (p.Pro1536Leu)
c.4737C>T (p.Thr1579=)
n.4736C>T
n.4752C>T
c.2951C>T (p.Pro984Leu)
c.2234C>T (p.Pro745Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68446528G>ACA6150431LRP5c.4581G>A (p.Pro1527=)
c.251G>A
c.*3187G>A (n.*3187G>A)
c.2838G>A (p.Pro946=)
c.4695G>A (p.Pro1565=)
c.4722G>A (p.Pro1574=)
c.4608G>A (p.Pro1536=)
c.4738G>A (p.Val1580Ile)
n.4737G>A
n.4753G>A
c.2952G>A (p.Pro984=)
c.2235G>A (p.Pro745=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68446528G>CCA475462327LRP5c.4581G>C (p.Pro1527=)
c.251G>C
c.*3187G>C (n.*3187G>C)
c.2838G>C (p.Pro946=)
c.4695G>C (p.Pro1565=)
c.4722G>C (p.Pro1574=)
c.4608G>C (p.Pro1536=)
c.4738G>C (p.Val1580Leu)
n.4737G>C
n.4753G>C
c.2952G>C (p.Pro984=)
c.2235G>C (p.Pro745=)
11g.68446528G=CA1980664576LRP5c.4581G= (p.Pro1527=)
c.251G=
c.*3187G= (n.*3187G=)
c.2838G= (p.Pro946=)
c.4695G= (p.Pro1565=)
c.4722G= (p.Pro1574=)
c.4608G= (p.Pro1536=)
c.4738G= (p.Val1580=)
n.4737G=
n.4753G=
c.2952G= (p.Pro984=)
c.2235G= (p.Pro745=)
11g.68446528G>TCA475462325LRP5c.4581G>T (p.Pro1527=)
c.251G>T
c.*3187G>T (n.*3187G>T)
c.2838G>T (p.Pro946=)
c.4695G>T (p.Pro1565=)
c.4722G>T (p.Pro1574=)
c.4608G>T (p.Pro1536=)
c.4738G>T (p.Val1580Leu)
n.4737G>T
n.4753G>T
c.2952G>T (p.Pro984=)
c.2235G>T (p.Pro745=)
 dbSNP
11g.68446529T>ACA6150432LRP5c.4582T>A (p.Tyr1528Asn)
c.252T>A
c.*3188T>A (n.*3188T>A)
c.2839T>A (p.Tyr947Asn)
c.4696T>A (p.Tyr1566Asn)
c.4723T>A (p.Tyr1575Asn)
c.4609T>A (p.Tyr1537Asn)
c.4739T>A (p.Val1580Glu)
n.4738T>A
n.4754T>A
c.2953T>A (p.Tyr985Asn)
c.2236T>A (p.Tyr746Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68446529T>CCA381617169LRP5c.4582T>C (p.Tyr1528His)
c.252T>C
c.*3188T>C (n.*3188T>C)
c.2839T>C (p.Tyr947His)
c.4696T>C (p.Tyr1566His)
c.4723T>C (p.Tyr1575His)
c.4609T>C (p.Tyr1537His)
c.4739T>C (p.Val1580Ala)
n.4738T>C
n.4754T>C
c.2953T>C (p.Tyr985His)
c.2236T>C (p.Tyr746His)
11g.68446529T>GCA381617171LRP5c.4582T>G (p.Tyr1528Asp)
c.252T>G
c.*3188T>G (n.*3188T>G)
c.2839T>G (p.Tyr947Asp)
c.4696T>G (p.Tyr1566Asp)
c.4723T>G (p.Tyr1575Asp)
c.4609T>G (p.Tyr1537Asp)
c.4739T>G (p.Val1580Gly)
n.4738T>G
n.4754T>G
c.2953T>G (p.Tyr985Asp)
c.2236T>G (p.Tyr746Asp)
11g.68446529T=CA1980664582LRP5c.4582T= (p.Tyr1528=)
c.252T=
c.*3188T= (n.*3188T=)
c.2839T= (p.Tyr947=)
c.4696T= (p.Tyr1566=)
c.4723T= (p.Tyr1575=)
c.4609T= (p.Tyr1537=)
c.4739T= (p.Val1580=)
n.4738T=
n.4754T=
c.2953T= (p.Tyr985=)
c.2236T= (p.Tyr746=)
11g.68446530A=CA1980664585LRP5c.4583A= (p.Tyr1528=)
c.253A=
c.*3189A= (n.*3189A=)
c.2840A= (p.Tyr947=)
c.4697A= (p.Tyr1566=)
c.4724A= (p.Tyr1575=)
c.4610A= (p.Tyr1537=)
c.4740A= (p.Val1580=)
n.4739A=
n.4755A=
c.2954A= (p.Tyr985=)
c.2237A= (p.Tyr746=)
11g.68446530A>CCA381617174LRP5c.4583A>C (p.Tyr1528Ser)
c.253A>C
c.*3189A>C (n.*3189A>C)
c.2840A>C (p.Tyr947Ser)
c.4697A>C (p.Tyr1566Ser)
c.4724A>C (p.Tyr1575Ser)
c.4610A>C (p.Tyr1537Ser)
c.4740A>C (p.Val1580=)
n.4739A>C
n.4755A>C
c.2954A>C (p.Tyr985Ser)
c.2237A>C (p.Tyr746Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68446530A>GCA381617175LRP5c.4583A>G (p.Tyr1528Cys)
c.253A>G
c.*3189A>G (n.*3189A>G)
c.2840A>G (p.Tyr947Cys)
c.4697A>G (p.Tyr1566Cys)
c.4724A>G (p.Tyr1575Cys)
c.4610A>G (p.Tyr1537Cys)
c.4740A>G (p.Val1580=)
n.4739A>G
n.4755A>G
c.2954A>G (p.Tyr985Cys)
c.2237A>G (p.Tyr746Cys)
11g.68446530A>TCA381617177LRP5c.4583A>T (p.Tyr1528Phe)
c.253A>T
c.*3189A>T (n.*3189A>T)
c.2840A>T (p.Tyr947Phe)
c.4697A>T (p.Tyr1566Phe)
c.4724A>T (p.Tyr1575Phe)
c.4610A>T (p.Tyr1537Phe)
c.4740A>T (p.Val1580=)
n.4739A>T
n.4755A>T
c.2954A>T (p.Tyr985Phe)
c.2237A>T (p.Tyr746Phe)
11g.68446531C>ACA381617179LRP5c.4584C>A (p.Tyr1528Ter)
c.254C>A
c.*3190C>A (n.*3190C>A)
c.2841C>A (p.Tyr947Ter)
c.4698C>A (p.Tyr1566Ter)
c.4725C>A (p.Tyr1575Ter)
c.4611C>A (p.Tyr1537Ter)
c.4741C>A (p.Gln1581Lys)
n.4740C>A
n.4756C>A
c.2955C>A (p.Tyr985Ter)
c.2238C>A (p.Tyr746Ter)
11g.68446531C=CA1980664589LRP5c.4584C= (p.Tyr1528=)
c.254C=
c.*3190C= (n.*3190C=)
c.2841C= (p.Tyr947=)
c.4698C= (p.Tyr1566=)
c.4725C= (p.Tyr1575=)
c.4611C= (p.Tyr1537=)
c.4741C= (p.Gln1581=)
n.4740C=
n.4756C=
c.2955C= (p.Tyr985=)
c.2238C= (p.Tyr746=)
11g.68446531C>GCA381617181LRP5c.4584C>G (p.Tyr1528Ter)
c.254C>G
c.*3190C>G (n.*3190C>G)
c.2841C>G (p.Tyr947Ter)
c.4698C>G (p.Tyr1566Ter)
c.4725C>G (p.Tyr1575Ter)
c.4611C>G (p.Tyr1537Ter)
c.4741C>G (p.Gln1581Glu)
n.4740C>G
n.4756C>G
c.2955C>G (p.Tyr985Ter)
c.2238C>G (p.Tyr746Ter)
11g.68446531C>TCA475462331LRP5c.4584C>T (p.Tyr1528=)
c.254C>T
c.*3190C>T (n.*3190C>T)
c.2841C>T (p.Tyr947=)
c.4698C>T (p.Tyr1566=)
c.4725C>T (p.Tyr1575=)
c.4611C>T (p.Tyr1537=)
c.4741C>T (p.Gln1581Ter)
n.4740C>T
n.4756C>T
c.2955C>T (p.Tyr985=)
c.2238C>T (p.Tyr746=)
 dbSNP gnomAD v4
11g.68446532A>CCA475462334LRP5c.4585A>C (p.Arg1529=)
c.255A>C
c.*3191A>C (n.*3191A>C)
c.2842A>C (p.Arg948=)
c.4699A>C (p.Arg1567=)
c.4726A>C (p.Arg1576=)
c.4612A>C (p.Arg1538=)
c.4742A>C (p.Gln1581Pro)
n.4741A>C
n.4757A>C
c.2956A>C (p.Arg986=)
c.2239A>C (p.Arg747=)
11g.68446532A>GCA381617183LRP5c.4585A>G (p.Arg1529Gly)
c.255A>G
c.*3191A>G (n.*3191A>G)
c.2842A>G (p.Arg948Gly)
c.4699A>G (p.Arg1567Gly)
c.4726A>G (p.Arg1576Gly)
c.4612A>G (p.Arg1538Gly)
c.4742A>G (p.Gln1581Arg)
n.4741A>G
n.4757A>G
c.2956A>G (p.Arg986Gly)
c.2239A>G (p.Arg747Gly)
11g.68446532A>TCA381617186LRP5c.4585A>T (p.Arg1529Trp)
c.255A>T
c.*3191A>T (n.*3191A>T)
c.2842A>T (p.Arg948Trp)
c.4699A>T (p.Arg1567Trp)
c.4726A>T (p.Arg1576Trp)
c.4612A>T (p.Arg1538Trp)
c.4742A>T (p.Gln1581Leu)
n.4741A>T
n.4757A>T
c.2956A>T (p.Arg986Trp)
c.2239A>T (p.Arg747Trp)
11g.68446533G>ACA381617189LRP5c.4586G>A (p.Arg1529Lys)
c.256G>A
c.*3192G>A (n.*3192G>A)
c.2843G>A (p.Arg948Lys)
c.4700G>A (p.Arg1567Lys)
c.4727G>A (p.Arg1576Lys)
c.4613G>A (p.Arg1538Lys)
c.4743G>A (p.Gln1581=)
n.4742G>A
n.4758G>A
c.2957G>A (p.Arg986Lys)
c.2240G>A (p.Arg747Lys)
11g.68446533G>CCA381617191LRP5c.4586G>C (p.Arg1529Thr)
c.256G>C
c.*3192G>C (n.*3192G>C)
c.2843G>C (p.Arg948Thr)
c.4700G>C (p.Arg1567Thr)
c.4727G>C (p.Arg1576Thr)
c.4613G>C (p.Arg1538Thr)
c.4743G>C (p.Gln1581His)
n.4742G>C
n.4758G>C
c.2957G>C (p.Arg986Thr)
c.2240G>C (p.Arg747Thr)
11g.68446533G>TCA381617188LRP5c.4586G>T (p.Arg1529Met)
c.256G>T
c.*3192G>T (n.*3192G>T)
c.2843G>T (p.Arg948Met)
c.4700G>T (p.Arg1567Met)
c.4727G>T (p.Arg1576Met)
c.4613G>T (p.Arg1538Met)
c.4743G>T (p.Gln1581His)
n.4742G>T
n.4758G>T
c.2957G>T (p.Arg986Met)
c.2240G>T (p.Arg747Met)
11g.68446534G>ACA381617194LRP5c.4586+1G>A (n.4586+1G>A)
c.256+1G>A
c.*3192+1G>A (n.*3192+1G>A)
c.2843+1G>A (n.2843+1G>A)
c.4700+1G>A (n.4700+1G>A)
c.4727+1G>A (n.4727+1G>A)
c.4613+1G>A (n.4613+1G>A)
c.4743+1G>A (n.4743+1G>A)
n.4742+1G>A
n.4758+1G>A
c.2957+1G>A (n.2957+1G>A)
c.2240+1G>A (n.2240+1G>A)
11g.68446534G>CCA381617195LRP5c.4586+1G>C (n.4586+1G>C)
c.256+1G>C
c.*3192+1G>C (n.*3192+1G>C)
c.2843+1G>C (n.2843+1G>C)
c.4700+1G>C (n.4700+1G>C)
c.4727+1G>C (n.4727+1G>C)
c.4613+1G>C (n.4613+1G>C)
c.4743+1G>C (n.4743+1G>C)
n.4742+1G>C
n.4758+1G>C
c.2957+1G>C (n.2957+1G>C)
c.2240+1G>C (n.2240+1G>C)
11g.68446534G>TCA381617197LRP5c.4586+1G>T (n.4586+1G>T)
c.256+1G>T
c.*3192+1G>T (n.*3192+1G>T)
c.2843+1G>T (n.2843+1G>T)
c.4700+1G>T (n.4700+1G>T)
c.4727+1G>T (n.4727+1G>T)
c.4613+1G>T (n.4613+1G>T)
c.4743+1G>T (n.4743+1G>T)
n.4742+1G>T
n.4758+1G>T
c.2957+1G>T (n.2957+1G>T)
c.2240+1G>T (n.2240+1G>T)
11g.68446534_68446535insCCCCA2724558080LRP5c.4586+1_4586+2insCCC (n.4586+1_4586+2insCCC)
c.256+1_256+2insCCC
c.*3192+1_*3192+2insCCC (n.*3192+1_*3192+2insCCC)
c.2843+1_2843+2insCCC (n.2843+1_2843+2insCCC)
c.4700+1_4700+2insCCC (n.4700+1_4700+2insCCC)
c.4727+1_4727+2insCCC (n.4727+1_4727+2insCCC)
c.4613+1_4613+2insCCC (n.4613+1_4613+2insCCC)
c.4743+1_4743+2insCCC (n.4743+1_4743+2insCCC)
n.4742+1_4742+2insCCC
n.4758+1_4758+2insCCC
c.2957+1_2957+2insCCC (n.2957+1_2957+2insCCC)
c.2240+1_2240+2insCCC (n.2240+1_2240+2insCCC)
 dbSNP
11g.68446535T>ACA381617199LRP5c.4586+2T>A (n.4586+2T>A)
c.256+2T>A
c.*3192+2T>A (n.*3192+2T>A)
c.2843+2T>A (n.2843+2T>A)
c.4700+2T>A (n.4700+2T>A)
c.4727+2T>A (n.4727+2T>A)
c.4613+2T>A (n.4613+2T>A)
c.4743+2T>A (n.4743+2T>A)
n.4742+2T>A
n.4758+2T>A
c.2957+2T>A (n.2957+2T>A)
c.2240+2T>A (n.2240+2T>A)
11g.68446535T>CCA381617200LRP5c.4586+2T>C (n.4586+2T>C)
c.256+2T>C
c.*3192+2T>C (n.*3192+2T>C)
c.2843+2T>C (n.2843+2T>C)
c.4700+2T>C (n.4700+2T>C)
c.4727+2T>C (n.4727+2T>C)
c.4613+2T>C (n.4613+2T>C)
c.4743+2T>C (n.4743+2T>C)
n.4742+2T>C
n.4758+2T>C
c.2957+2T>C (n.2957+2T>C)
c.2240+2T>C (n.2240+2T>C)
11g.68446535T>GCA381617202LRP5c.4586+2T>G (n.4586+2T>G)
c.256+2T>G
c.*3192+2T>G (n.*3192+2T>G)
c.2843+2T>G (n.2843+2T>G)
c.4700+2T>G (n.4700+2T>G)
c.4727+2T>G (n.4727+2T>G)
c.4613+2T>G (n.4613+2T>G)
c.4743+2T>G (n.4743+2T>G)
n.4742+2T>G
n.4758+2T>G
c.2957+2T>G (n.2957+2T>G)
c.2240+2T>G (n.2240+2T>G)

Number of alleles fetched