Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68448873G>ACA210911LRP5c.4651G>A (p.Asp1551Asn)
n.242G>A
c.321G>A
c.*3257G>A (n.*3257G>A)
c.2908G>A (p.Asp970Asn)
c.4765G>A (p.Asp1589Asn)
c.4792G>A (p.Asp1598Asn)
c.4678G>A (p.Asp1560Asn)
c.*5G>A (n.*5G>A)
n.5038G>A
n.5054G>A
c.3022G>A (p.Asp1008Asn)
c.2305G>A (p.Asp769Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68448873G>CCA381618045LRP5c.4651G>C (p.Asp1551His)
n.242G>C
c.321G>C
c.*3257G>C (n.*3257G>C)
c.2908G>C (p.Asp970His)
c.4765G>C (p.Asp1589His)
c.4792G>C (p.Asp1598His)
c.4678G>C (p.Asp1560His)
c.*5G>C (n.*5G>C)
n.5038G>C
n.5054G>C
c.3022G>C (p.Asp1008His)
c.2305G>C (p.Asp769His)
11g.68448873G=CA1980656703LRP5c.4651G= (p.Asp1551=)
n.242G=
c.321G=
c.*3257G= (n.*3257G=)
c.2908G= (p.Asp970=)
c.4765G= (p.Asp1589=)
c.4792G= (p.Asp1598=)
c.4678G= (p.Asp1560=)
c.*5G= (n.*5G=)
n.5038G=
n.5054G=
c.3022G= (p.Asp1008=)
c.2305G= (p.Asp769=)
11g.68448873G>TCA381618050LRP5c.4651G>T (p.Asp1551Tyr)
n.242G>T
c.321G>T
c.*3257G>T (n.*3257G>T)
c.2908G>T (p.Asp970Tyr)
c.4765G>T (p.Asp1589Tyr)
c.4792G>T (p.Asp1598Tyr)
c.4678G>T (p.Asp1560Tyr)
c.*5G>T (n.*5G>T)
n.5038G>T
n.5054G>T
c.3022G>T (p.Asp1008Tyr)
c.2305G>T (p.Asp769Tyr)
 dbSNP gnomAD v2
11g.68448874A>CCA381618053LRP5c.4652A>C (p.Asp1551Ala)
n.243A>C
c.322A>C
c.*3258A>C (n.*3258A>C)
c.2909A>C (p.Asp970Ala)
c.4766A>C (p.Asp1589Ala)
c.4793A>C (p.Asp1598Ala)
c.4679A>C (p.Asp1560Ala)
c.*6A>C (n.*6A>C)
n.5039A>C
n.5055A>C
c.3023A>C (p.Asp1008Ala)
c.2306A>C (p.Asp769Ala)
11g.68448874A>GCA381618056LRP5c.4652A>G (p.Asp1551Gly)
n.243A>G
c.322A>G
c.*3258A>G (n.*3258A>G)
c.2909A>G (p.Asp970Gly)
c.4766A>G (p.Asp1589Gly)
c.4793A>G (p.Asp1598Gly)
c.4679A>G (p.Asp1560Gly)
c.*6A>G (n.*6A>G)
n.5039A>G
n.5055A>G
c.3023A>G (p.Asp1008Gly)
c.2306A>G (p.Asp769Gly)
11g.68448874A>TCA381618059LRP5c.4652A>T (p.Asp1551Val)
n.243A>T
c.322A>T
c.*3258A>T (n.*3258A>T)
c.2909A>T (p.Asp970Val)
c.4766A>T (p.Asp1589Val)
c.4793A>T (p.Asp1598Val)
c.4679A>T (p.Asp1560Val)
c.*6A>T (n.*6A>T)
n.5039A>T
n.5055A>T
c.3023A>T (p.Asp1008Val)
c.2306A>T (p.Asp769Val)
 COSMIC
11g.68448874_68448883delCA2497030054LRP5c.4652_4661del (p.Asp1551AlafsTer13)
n.243_252del
c.322_331del
c.*3258_*3267del (n.*3258_*3267del)
c.2909_2918del (p.Asp970AlafsTer13)
c.4766_4775del (p.Asp1589AlafsTer13)
c.4793_4802del (p.Asp1598AlafsTer13)
c.4679_4688del (p.Asp1560AlafsTer13)
c.*6_*15del (n.*6_*15del)
n.5039_5048del
n.5055_5064del
c.3023_3032del (p.Asp1008AlafsTer13)
c.2306_2315del (p.Asp769AlafsTer13)
11g.68448875C>ACA381618062LRP5c.4653C>A (p.Asp1551Glu)
n.244C>A
c.323C>A
c.*3259C>A (n.*3259C>A)
c.2910C>A (p.Asp970Glu)
c.4767C>A (p.Asp1589Glu)
c.4794C>A (p.Asp1598Glu)
c.4680C>A (p.Asp1560Glu)
c.*7C>A (n.*7C>A)
n.5040C>A
n.5056C>A
c.3024C>A (p.Asp1008Glu)
c.2307C>A (p.Asp769Glu)
11g.68448875C>GCA381618064LRP5c.4653C>G (p.Asp1551Glu)
n.244C>G
c.323C>G
c.*3259C>G (n.*3259C>G)
c.2910C>G (p.Asp970Glu)
c.4767C>G (p.Asp1589Glu)
c.4794C>G (p.Asp1598Glu)
c.4680C>G (p.Asp1560Glu)
c.*7C>G (n.*7C>G)
n.5040C>G
n.5056C>G
c.3024C>G (p.Asp1008Glu)
c.2307C>G (p.Asp769Glu)
11g.68448875C>TCA475462543LRP5c.4653C>T (p.Asp1551=)
n.244C>T
c.323C>T
c.*3259C>T (n.*3259C>T)
c.2910C>T (p.Asp970=)
c.4767C>T (p.Asp1589=)
c.4794C>T (p.Asp1598=)
c.4680C>T (p.Asp1560=)
c.*7C>T (n.*7C>T)
n.5040C>T
n.5056C>T
c.3024C>T (p.Asp1008=)
c.2307C>T (p.Asp769=)
11g.68448876T>ACA381618072LRP5c.4654T>A (p.Tyr1552Asn)
n.245T>A
c.324T>A
c.*3260T>A (n.*3260T>A)
c.2911T>A (p.Tyr971Asn)
c.4768T>A (p.Tyr1590Asn)
c.4795T>A (p.Tyr1599Asn)
c.4681T>A (p.Tyr1561Asn)
c.*8T>A (n.*8T>A)
n.5041T>A
n.5057T>A
c.3025T>A (p.Tyr1009Asn)
c.2308T>A (p.Tyr770Asn)
11g.68448876T>CCA381618075LRP5c.4654T>C (p.Tyr1552His)
n.245T>C
c.324T>C
c.*3260T>C (n.*3260T>C)
c.2911T>C (p.Tyr971His)
c.4768T>C (p.Tyr1590His)
c.4795T>C (p.Tyr1599His)
c.4681T>C (p.Tyr1561His)
c.*8T>C (n.*8T>C)
n.5041T>C
n.5057T>C
c.3025T>C (p.Tyr1009His)
c.2308T>C (p.Tyr770His)
11g.68448876T>GCA381618069LRP5c.4654T>G (p.Tyr1552Asp)
n.245T>G
c.324T>G
c.*3260T>G (n.*3260T>G)
c.2911T>G (p.Tyr971Asp)
c.4768T>G (p.Tyr1590Asp)
c.4795T>G (p.Tyr1599Asp)
c.4681T>G (p.Tyr1561Asp)
c.*8T>G (n.*8T>G)
n.5041T>G
n.5057T>G
c.3025T>G (p.Tyr1009Asp)
c.2308T>G (p.Tyr770Asp)
 gnomAD v4
11g.68448877A>CCA381618078LRP5c.4655A>C (p.Tyr1552Ser)
n.246A>C
c.325A>C
c.*3261A>C (n.*3261A>C)
c.2912A>C (p.Tyr971Ser)
c.4769A>C (p.Tyr1590Ser)
c.4796A>C (p.Tyr1599Ser)
c.4682A>C (p.Tyr1561Ser)
c.*9A>C (n.*9A>C)
n.5042A>C
n.5058A>C
c.3026A>C (p.Tyr1009Ser)
c.2309A>C (p.Tyr770Ser)
11g.68448877A>GCA381618081LRP5c.4655A>G (p.Tyr1552Cys)
n.246A>G
c.325A>G
c.*3261A>G (n.*3261A>G)
c.2912A>G (p.Tyr971Cys)
c.4769A>G (p.Tyr1590Cys)
c.4796A>G (p.Tyr1599Cys)
c.4682A>G (p.Tyr1561Cys)
c.*9A>G (n.*9A>G)
n.5042A>G
n.5058A>G
c.3026A>G (p.Tyr1009Cys)
c.2309A>G (p.Tyr770Cys)
11g.68448877A>TCA381618083LRP5c.4655A>T (p.Tyr1552Phe)
n.246A>T
c.325A>T
c.*3261A>T (n.*3261A>T)
c.2912A>T (p.Tyr971Phe)
c.4769A>T (p.Tyr1590Phe)
c.4796A>T (p.Tyr1599Phe)
c.4682A>T (p.Tyr1561Phe)
c.*9A>T (n.*9A>T)
n.5042A>T
n.5058A>T
c.3026A>T (p.Tyr1009Phe)
c.2309A>T (p.Tyr770Phe)
11g.68448878C>ACA381618086LRP5c.4656C>A (p.Tyr1552Ter)
n.247C>A
c.326C>A
c.*3262C>A (n.*3262C>A)
c.2913C>A (p.Tyr971Ter)
c.4770C>A (p.Tyr1590Ter)
c.4797C>A (p.Tyr1599Ter)
c.4683C>A (p.Tyr1561Ter)
c.*10C>A (n.*10C>A)
n.5043C>A
n.5059C>A
c.3027C>A (p.Tyr1009Ter)
c.2310C>A (p.Tyr770Ter)
11g.68448878C>GCA381618088LRP5c.4656C>G (p.Tyr1552Ter)
n.247C>G
c.326C>G
c.*3262C>G (n.*3262C>G)
c.2913C>G (p.Tyr971Ter)
c.4770C>G (p.Tyr1590Ter)
c.4797C>G (p.Tyr1599Ter)
c.4683C>G (p.Tyr1561Ter)
c.*10C>G (n.*10C>G)
n.5043C>G
n.5059C>G
c.3027C>G (p.Tyr1009Ter)
c.2310C>G (p.Tyr770Ter)
11g.68448878C>TCA475462548LRP5c.4656C>T (p.Tyr1552=)
n.247C>T
c.326C>T
c.*3262C>T (n.*3262C>T)
c.2913C>T (p.Tyr971=)
c.4770C>T (p.Tyr1590=)
c.4797C>T (p.Tyr1599=)
c.4683C>T (p.Tyr1561=)
c.*10C>T (n.*10C>T)
n.5043C>T
n.5059C>T
c.3027C>T (p.Tyr1009=)
c.2310C>T (p.Tyr770=)
11g.68448879A>CCA381618091LRP5c.4657A>C (p.Ser1553Arg)
n.248A>C
c.327A>C
c.*3263A>C (n.*3263A>C)
c.2914A>C (p.Ser972Arg)
c.4771A>C (p.Ser1591Arg)
c.4798A>C (p.Ser1600Arg)
c.4684A>C (p.Ser1562Arg)
c.*11A>C (n.*11A>C)
n.5044A>C
n.5060A>C
c.3028A>C (p.Ser1010Arg)
c.2311A>C (p.Ser771Arg)
11g.68448879A>GCA381618092LRP5c.4657A>G (p.Ser1553Gly)
n.248A>G
c.327A>G
c.*3263A>G (n.*3263A>G)
c.2914A>G (p.Ser972Gly)
c.4771A>G (p.Ser1591Gly)
c.4798A>G (p.Ser1600Gly)
c.4684A>G (p.Ser1562Gly)
c.*11A>G (n.*11A>G)
n.5044A>G
n.5060A>G
c.3028A>G (p.Ser1010Gly)
c.2311A>G (p.Ser771Gly)
 gnomAD v4
11g.68448879A>TCA381618093LRP5c.4657A>T (p.Ser1553Cys)
n.248A>T
c.327A>T
c.*3263A>T (n.*3263A>T)
c.2914A>T (p.Ser972Cys)
c.4771A>T (p.Ser1591Cys)
c.4798A>T (p.Ser1600Cys)
c.4684A>T (p.Ser1562Cys)
c.*11A>T (n.*11A>T)
n.5044A>T
n.5060A>T
c.3028A>T (p.Ser1010Cys)
c.2311A>T (p.Ser771Cys)
11g.68448880G>ACA381618095LRP5c.4658G>A (p.Ser1553Asn)
n.249G>A
c.328G>A
c.*3264G>A (n.*3264G>A)
c.2915G>A (p.Ser972Asn)
c.4772G>A (p.Ser1591Asn)
c.4799G>A (p.Ser1600Asn)
c.4685G>A (p.Ser1562Asn)
c.*12G>A (n.*12G>A)
n.5045G>A
n.5061G>A
c.3029G>A (p.Ser1010Asn)
c.2312G>A (p.Ser771Asn)
11g.68448880G>CCA381618097LRP5c.4658G>C (p.Ser1553Thr)
n.249G>C
c.328G>C
c.*3264G>C (n.*3264G>C)
c.2915G>C (p.Ser972Thr)
c.4772G>C (p.Ser1591Thr)
c.4799G>C (p.Ser1600Thr)
c.4685G>C (p.Ser1562Thr)
c.*12G>C (n.*12G>C)
n.5045G>C
n.5061G>C
c.3029G>C (p.Ser1010Thr)
c.2312G>C (p.Ser771Thr)
11g.68448880G=CA1980656706LRP5c.4658G= (p.Ser1553=)
n.249G=
c.328G=
c.*3264G= (n.*3264G=)
c.2915G= (p.Ser972=)
c.4772G= (p.Ser1591=)
c.4799G= (p.Ser1600=)
c.4685G= (p.Ser1562=)
c.*12G= (n.*12G=)
n.5045G=
n.5061G=
c.3029G= (p.Ser1010=)
c.2312G= (p.Ser771=)
11g.68448880G>TCA381618098LRP5c.4658G>T (p.Ser1553Ile)
n.249G>T
c.328G>T
c.*3264G>T (n.*3264G>T)
c.2915G>T (p.Ser972Ile)
c.4772G>T (p.Ser1591Ile)
c.4799G>T (p.Ser1600Ile)
c.4685G>T (p.Ser1562Ile)
c.*12G>T (n.*12G>T)
n.5045G>T
n.5061G>T
c.3029G>T (p.Ser1010Ile)
c.2312G>T (p.Ser771Ile)
 ClinVar dbSNP gnomAD v4
11g.68448881C>ACA381618101LRP5c.4659C>A (p.Ser1553Arg)
n.250C>A
c.329C>A
c.*3265C>A (n.*3265C>A)
c.2916C>A (p.Ser972Arg)
c.4773C>A (p.Ser1591Arg)
c.4800C>A (p.Ser1600Arg)
c.4686C>A (p.Ser1562Arg)
c.*13C>A (n.*13C>A)
n.5046C>A
n.5062C>A
c.3030C>A (p.Ser1010Arg)
c.2313C>A (p.Ser771Arg)
11g.68448881C=CA1980656708LRP5c.4659C= (p.Ser1553=)
n.250C=
c.329C=
c.*3265C= (n.*3265C=)
c.2916C= (p.Ser972=)
c.4773C= (p.Ser1591=)
c.4800C= (p.Ser1600=)
c.4686C= (p.Ser1562=)
c.*13C= (n.*13C=)
n.5046C=
n.5062C=
c.3030C= (p.Ser1010=)
c.2313C= (p.Ser771=)
11g.68448881C>GCA224260723LRP5c.4659C>G (p.Ser1553Arg)
n.250C>G
c.329C>G
c.*3265C>G (n.*3265C>G)
c.2916C>G (p.Ser972Arg)
c.4773C>G (p.Ser1591Arg)
c.4800C>G (p.Ser1600Arg)
c.4686C>G (p.Ser1562Arg)
c.*13C>G (n.*13C>G)
n.5046C>G
n.5062C>G
c.3030C>G (p.Ser1010Arg)
c.2313C>G (p.Ser771Arg)
 dbSNP
11g.68448881C>TCA6150477LRP5c.4659C>T (p.Ser1553=)
n.250C>T
c.329C>T
c.*3265C>T (n.*3265C>T)
c.2916C>T (p.Ser972=)
c.4773C>T (p.Ser1591=)
c.4800C>T (p.Ser1600=)
c.4686C>T (p.Ser1562=)
c.*13C>T (n.*13C>T)
n.5046C>T
n.5062C>T
c.3030C>T (p.Ser1010=)
c.2313C>T (p.Ser771=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68448882G>ACA6150478LRP5c.4660G>A (p.Ala1554Thr)
n.251G>A
c.330G>A
c.*3266G>A (n.*3266G>A)
c.2917G>A (p.Ala973Thr)
c.4774G>A (p.Ala1592Thr)
c.4801G>A (p.Ala1601Thr)
c.4687G>A (p.Ala1563Thr)
c.*14G>A (n.*14G>A)
n.5047G>A
n.5063G>A
c.3031G>A (p.Ala1011Thr)
c.2314G>A (p.Ala772Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68448882G>CCA6150479LRP5c.4660G>C (p.Ala1554Pro)
n.251G>C
c.330G>C
c.*3266G>C (n.*3266G>C)
c.2917G>C (p.Ala973Pro)
c.4774G>C (p.Ala1592Pro)
c.4801G>C (p.Ala1601Pro)
c.4687G>C (p.Ala1563Pro)
c.*14G>C (n.*14G>C)
n.5047G>C
n.5063G>C
c.3031G>C (p.Ala1011Pro)
c.2314G>C (p.Ala772Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.68448882G=CA1980656710LRP5c.4660G= (p.Ala1554=)
n.251G=
c.330G=
c.*3266G= (n.*3266G=)
c.2917G= (p.Ala973=)
c.4774G= (p.Ala1592=)
c.4801G= (p.Ala1601=)
c.4687G= (p.Ala1563=)
c.*14G= (n.*14G=)
n.5047G=
n.5063G=
c.3031G= (p.Ala1011=)
c.2314G= (p.Ala772=)
11g.68448882G>TCA381618105LRP5c.4660G>T (p.Ala1554Ser)
n.251G>T
c.330G>T
c.*3266G>T (n.*3266G>T)
c.2917G>T (p.Ala973Ser)
c.4774G>T (p.Ala1592Ser)
c.4801G>T (p.Ala1601Ser)
c.4687G>T (p.Ala1563Ser)
c.*14G>T (n.*14G>T)
n.5047G>T
n.5063G>T
c.3031G>T (p.Ala1011Ser)
c.2314G>T (p.Ala772Ser)
11g.68448883C>ACA381618108LRP5c.4661C>A (p.Ala1554Asp)
n.252C>A
c.331C>A
c.*3267C>A (n.*3267C>A)
c.2918C>A (p.Ala973Asp)
c.4775C>A (p.Ala1592Asp)
c.4802C>A (p.Ala1601Asp)
c.4688C>A (p.Ala1563Asp)
c.*15C>A (n.*15C>A)
n.5048C>A
n.5064C>A
c.3032C>A (p.Ala1011Asp)
c.2315C>A (p.Ala772Asp)
11g.68448883C>GCA381618109LRP5c.4661C>G (p.Ala1554Gly)
n.252C>G
c.331C>G
c.*3267C>G (n.*3267C>G)
c.2918C>G (p.Ala973Gly)
c.4775C>G (p.Ala1592Gly)
c.4802C>G (p.Ala1601Gly)
c.4688C>G (p.Ala1563Gly)
c.*15C>G (n.*15C>G)
n.5048C>G
n.5064C>G
c.3032C>G (p.Ala1011Gly)
c.2315C>G (p.Ala772Gly)
11g.68448883C>TCA381618112LRP5c.4661C>T (p.Ala1554Val)
n.252C>T
c.331C>T
c.*3267C>T (n.*3267C>T)
c.2918C>T (p.Ala973Val)
c.4775C>T (p.Ala1592Val)
c.4802C>T (p.Ala1601Val)
c.4688C>T (p.Ala1563Val)
c.*15C>T (n.*15C>T)
n.5048C>T
n.5064C>T
c.3032C>T (p.Ala1011Val)
c.2315C>T (p.Ala772Val)
11g.68448883_68448884dupCA1980656711LRP5c.4661_4662dup (p.Ser1555ProfsTer13)
n.252_253dup
c.331_332dup
c.*3267_*3268dup (n.*3267_*3268dup)
c.2918_2919dup (p.Ser974ProfsTer13)
c.4775_4776dup (p.Ser1593ProfsTer13)
c.4802_4803dup (p.Ser1602ProfsTer13)
c.4688_4689dup (p.Ser1564ProfsTer13)
c.*15_*16dup (n.*15_*16dup)
n.5048_5049dup
n.5064_5065dup
c.3032_3033dup (p.Ser1012ProfsTer13)
c.2315_2316dup (p.Ser773ProfsTer13)
 dbSNP
11g.68448884C>ACA475462564LRP5c.4662C>A (p.Ala1554=)
n.253C>A
c.332C>A
c.*3268C>A (n.*3268C>A)
c.2919C>A (p.Ala973=)
c.4776C>A (p.Ala1592=)
c.4803C>A (p.Ala1601=)
c.4689C>A (p.Ala1563=)
c.*16C>A (n.*16C>A)
n.5049C>A
n.5065C>A
c.3033C>A (p.Ala1011=)
c.2316C>A (p.Ala772=)
11g.68448884C>GCA475462563LRP5c.4662C>G (p.Ala1554=)
n.253C>G
c.332C>G
c.*3268C>G (n.*3268C>G)
c.2919C>G (p.Ala973=)
c.4776C>G (p.Ala1592=)
c.4803C>G (p.Ala1601=)
c.4689C>G (p.Ala1563=)
c.*16C>G (n.*16C>G)
n.5049C>G
n.5065C>G
c.3033C>G (p.Ala1011=)
c.2316C>G (p.Ala772=)
11g.68448884C>TCA475462561LRP5c.4662C>T (p.Ala1554=)
n.253C>T
c.332C>T
c.*3268C>T (n.*3268C>T)
c.2919C>T (p.Ala973=)
c.4776C>T (p.Ala1592=)
c.4803C>T (p.Ala1601=)
c.4689C>T (p.Ala1563=)
c.*16C>T (n.*16C>T)
n.5049C>T
n.5065C>T
c.3033C>T (p.Ala1011=)
c.2316C>T (p.Ala772=)
11g.68448885A>CCA381618114LRP5c.4663A>C (p.Ser1555Arg)
n.254A>C
c.333A>C
c.*3269A>C (n.*3269A>C)
c.2920A>C (p.Ser974Arg)
c.4777A>C (p.Ser1593Arg)
c.4804A>C (p.Ser1602Arg)
c.4690A>C (p.Ser1564Arg)
c.*17A>C (n.*17A>C)
n.5050A>C
n.5066A>C
c.3034A>C (p.Ser1012Arg)
c.2317A>C (p.Ser773Arg)
11g.68448885A>GCA381618118LRP5c.4663A>G (p.Ser1555Gly)
n.254A>G
c.333A>G
c.*3269A>G (n.*3269A>G)
c.2920A>G (p.Ser974Gly)
c.4777A>G (p.Ser1593Gly)
c.4804A>G (p.Ser1602Gly)
c.4690A>G (p.Ser1564Gly)
c.*17A>G (n.*17A>G)
n.5050A>G
n.5066A>G
c.3034A>G (p.Ser1012Gly)
c.2317A>G (p.Ser773Gly)
11g.68448885A>TCA381618115LRP5c.4663A>T (p.Ser1555Cys)
n.254A>T
c.333A>T
c.*3269A>T (n.*3269A>T)
c.2920A>T (p.Ser974Cys)
c.4777A>T (p.Ser1593Cys)
c.4804A>T (p.Ser1602Cys)
c.4690A>T (p.Ser1564Cys)
c.*17A>T (n.*17A>T)
n.5050A>T
n.5066A>T
c.3034A>T (p.Ser1012Cys)
c.2317A>T (p.Ser773Cys)
11g.68448886G>ACA381618120LRP5c.4664G>A (p.Ser1555Asn)
n.255G>A
c.334G>A
c.*3270G>A (n.*3270G>A)
c.2921G>A (p.Ser974Asn)
c.4778G>A (p.Ser1593Asn)
c.4805G>A (p.Ser1602Asn)
c.4691G>A (p.Ser1564Asn)
c.*18G>A (n.*18G>A)
n.5051G>A
n.5067G>A
c.3035G>A (p.Ser1012Asn)
c.2318G>A (p.Ser773Asn)
11g.68448886G>CCA381618122LRP5c.4664G>C (p.Ser1555Thr)
n.255G>C
c.334G>C
c.*3270G>C (n.*3270G>C)
c.2921G>C (p.Ser974Thr)
c.4778G>C (p.Ser1593Thr)
c.4805G>C (p.Ser1602Thr)
c.4691G>C (p.Ser1564Thr)
c.*18G>C (n.*18G>C)
n.5051G>C
n.5067G>C
c.3035G>C (p.Ser1012Thr)
c.2318G>C (p.Ser773Thr)
11g.68448886G>TCA381618123LRP5c.4664G>T (p.Ser1555Ile)
n.255G>T
c.334G>T
c.*3270G>T (n.*3270G>T)
c.2921G>T (p.Ser974Ile)
c.4778G>T (p.Ser1593Ile)
c.4805G>T (p.Ser1602Ile)
c.4691G>T (p.Ser1564Ile)
c.*18G>T (n.*18G>T)
n.5051G>T
n.5067G>T
c.3035G>T (p.Ser1012Ile)
c.2318G>T (p.Ser773Ile)
11g.68448887C>ACA381618125LRP5c.4665C>A (p.Ser1555Arg)
n.256C>A
c.335C>A
c.*3271C>A (n.*3271C>A)
c.2922C>A (p.Ser974Arg)
c.4779C>A (p.Ser1593Arg)
c.4806C>A (p.Ser1602Arg)
c.4692C>A (p.Ser1564Arg)
c.*19C>A (n.*19C>A)
n.5052C>A
n.5068C>A
c.3036C>A (p.Ser1012Arg)
c.2319C>A (p.Ser773Arg)
11g.68448887C>GCA381618127LRP5c.4665C>G (p.Ser1555Arg)
n.256C>G
c.335C>G
c.*3271C>G (n.*3271C>G)
c.2922C>G (p.Ser974Arg)
c.4779C>G (p.Ser1593Arg)
c.4806C>G (p.Ser1602Arg)
c.4692C>G (p.Ser1564Arg)
c.*19C>G (n.*19C>G)
n.5052C>G
n.5068C>G
c.3036C>G (p.Ser1012Arg)
c.2319C>G (p.Ser773Arg)
11g.68448887C>TCA475462570LRP5c.4665C>T (p.Ser1555=)
n.256C>T
c.335C>T
c.*3271C>T (n.*3271C>T)
c.2922C>T (p.Ser974=)
c.4779C>T (p.Ser1593=)
c.4806C>T (p.Ser1602=)
c.4692C>T (p.Ser1564=)
c.*19C>T (n.*19C>T)
n.5052C>T
n.5068C>T
c.3036C>T (p.Ser1012=)
c.2319C>T (p.Ser773=)
11g.68448888C>ACA381618131LRP5c.4666C>A (p.Arg1556Ser)
n.257C>A
c.336C>A
c.*3272C>A (n.*3272C>A)
c.2923C>A (p.Arg975Ser)
c.4780C>A (p.Arg1594Ser)
c.4807C>A (p.Arg1603Ser)
c.4693C>A (p.Arg1565Ser)
c.*20C>A (n.*20C>A)
n.5053C>A
n.5069C>A
c.3037C>A (p.Arg1013Ser)
c.2320C>A (p.Arg774Ser)
11g.68448888C=CA1980656713LRP5c.4666C= (p.Arg1556=)
n.257C=
c.336C=
c.*3272C= (n.*3272C=)
c.2923C= (p.Arg975=)
c.4780C= (p.Arg1594=)
c.4807C= (p.Arg1603=)
c.4693C= (p.Arg1565=)
c.*20C= (n.*20C=)
n.5053C=
n.5069C=
c.3037C= (p.Arg1013=)
c.2320C= (p.Arg774=)
11g.68448888C>GCA381618129LRP5c.4666C>G (p.Arg1556Gly)
n.257C>G
c.336C>G
c.*3272C>G (n.*3272C>G)
c.2923C>G (p.Arg975Gly)
c.4780C>G (p.Arg1594Gly)
c.4807C>G (p.Arg1603Gly)
c.4693C>G (p.Arg1565Gly)
c.*20C>G (n.*20C>G)
n.5053C>G
n.5069C>G
c.3037C>G (p.Arg1013Gly)
c.2320C>G (p.Arg774Gly)
11g.68448888C>TCA6150480LRP5c.4666C>T (p.Arg1556Cys)
n.257C>T
c.336C>T
c.*3272C>T (n.*3272C>T)
c.2923C>T (p.Arg975Cys)
c.4780C>T (p.Arg1594Cys)
c.4807C>T (p.Arg1603Cys)
c.4693C>T (p.Arg1565Cys)
c.*20C>T (n.*20C>T)
n.5053C>T
n.5069C>T
c.3037C>T (p.Arg1013Cys)
c.2320C>T (p.Arg774Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.68448889G>ACA6150481LRP5c.4667G>A (p.Arg1556His)
n.258G>A
c.337G>A
c.*3273G>A (n.*3273G>A)
c.2924G>A (p.Arg975His)
c.4781G>A (p.Arg1594His)
c.4808G>A (p.Arg1603His)
c.4694G>A (p.Arg1565His)
c.*21G>A (n.*21G>A)
n.5054G>A
n.5070G>A
c.3038G>A (p.Arg1013His)
c.2321G>A (p.Arg774His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68448889G>CCA381618132LRP5c.4667G>C (p.Arg1556Pro)
n.258G>C
c.337G>C
c.*3273G>C (n.*3273G>C)
c.2924G>C (p.Arg975Pro)
c.4781G>C (p.Arg1594Pro)
c.4808G>C (p.Arg1603Pro)
c.4694G>C (p.Arg1565Pro)
c.*21G>C (n.*21G>C)
n.5054G>C
n.5070G>C
c.3038G>C (p.Arg1013Pro)
c.2321G>C (p.Arg774Pro)
11g.68448889G=CA1980656715LRP5c.4667G= (p.Arg1556=)
n.258G=
c.337G=
c.*3273G= (n.*3273G=)
c.2924G= (p.Arg975=)
c.4781G= (p.Arg1594=)
c.4808G= (p.Arg1603=)
c.4694G= (p.Arg1565=)
c.*21G= (n.*21G=)
n.5054G=
n.5070G=
c.3038G= (p.Arg1013=)
c.2321G= (p.Arg774=)
11g.68448889G>TCA381618134LRP5c.4667G>T (p.Arg1556Leu)
n.258G>T
c.337G>T
c.*3273G>T (n.*3273G>T)
c.2924G>T (p.Arg975Leu)
c.4781G>T (p.Arg1594Leu)
c.4808G>T (p.Arg1603Leu)
c.4694G>T (p.Arg1565Leu)
c.*21G>T (n.*21G>T)
n.5054G>T
n.5070G>T
c.3038G>T (p.Arg1013Leu)
c.2321G>T (p.Arg774Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.68448890C>ACA475462576LRP5c.4668C>A (p.Arg1556=)
n.259C>A
c.338C>A
c.*3274C>A (n.*3274C>A)
c.2925C>A (p.Arg975=)
c.4782C>A (p.Arg1594=)
c.4809C>A (p.Arg1603=)
c.4695C>A (p.Arg1565=)
c.*22C>A (n.*22C>A)
n.5055C>A
n.5071C>A
c.3039C>A (p.Arg1013=)
c.2322C>A (p.Arg774=)
11g.68448890C>GCA475462580LRP5c.4668C>G (p.Arg1556=)
n.259C>G
c.338C>G
c.*3274C>G (n.*3274C>G)
c.2925C>G (p.Arg975=)
c.4782C>G (p.Arg1594=)
c.4809C>G (p.Arg1603=)
c.4695C>G (p.Arg1565=)
c.*22C>G (n.*22C>G)
n.5055C>G
n.5071C>G
c.3039C>G (p.Arg1013=)
c.2322C>G (p.Arg774=)
11g.68448890C>TCA475462578LRP5c.4668C>T (p.Arg1556=)
n.259C>T
c.338C>T
c.*3274C>T (n.*3274C>T)
c.2925C>T (p.Arg975=)
c.4782C>T (p.Arg1594=)
c.4809C>T (p.Arg1603=)
c.4695C>T (p.Arg1565=)
c.*22C>T (n.*22C>T)
n.5055C>T
n.5071C>T
c.3039C>T (p.Arg1013=)
c.2322C>T (p.Arg774=)
11g.68448891T>ACA381618136LRP5c.4669T>A (p.Trp1557Arg)
n.260T>A
c.339T>A
c.*3275T>A (n.*3275T>A)
c.2926T>A (p.Trp976Arg)
c.4783T>A (p.Trp1595Arg)
c.4810T>A (p.Trp1604Arg)
c.4696T>A (p.Trp1566Arg)
c.*23T>A (n.*23T>A)
n.5056T>A
n.5072T>A
c.3040T>A (p.Trp1014Arg)
c.2323T>A (p.Trp775Arg)
11g.68448891T>CCA381618138LRP5c.4669T>C (p.Trp1557Arg)
n.260T>C
c.339T>C
c.*3275T>C (n.*3275T>C)
c.2926T>C (p.Trp976Arg)
c.4783T>C (p.Trp1595Arg)
c.4810T>C (p.Trp1604Arg)
c.4696T>C (p.Trp1566Arg)
c.*23T>C (n.*23T>C)
n.5056T>C
n.5072T>C
c.3040T>C (p.Trp1014Arg)
c.2323T>C (p.Trp775Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.68448891T>GCA381618140LRP5c.4669T>G (p.Trp1557Gly)
n.260T>G
c.339T>G
c.*3275T>G (n.*3275T>G)
c.2926T>G (p.Trp976Gly)
c.4783T>G (p.Trp1595Gly)
c.4810T>G (p.Trp1604Gly)
c.4696T>G (p.Trp1566Gly)
c.*23T>G (n.*23T>G)
n.5056T>G
n.5072T>G
c.3040T>G (p.Trp1014Gly)
c.2323T>G (p.Trp775Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68448891T=CA1980656717LRP5c.4669T= (p.Trp1557=)
n.260T=
c.339T=
c.*3275T= (n.*3275T=)
c.2926T= (p.Trp976=)
c.4783T= (p.Trp1595=)
c.4810T= (p.Trp1604=)
c.4696T= (p.Trp1566=)
c.*23T= (n.*23T=)
n.5056T=
n.5072T=
c.3040T= (p.Trp1014=)
c.2323T= (p.Trp775=)
11g.68448892G>ACA381618142LRP5c.4670G>A (p.Trp1557Ter)
n.261G>A
c.340G>A
c.*3276G>A (n.*3276G>A)
c.2927G>A (p.Trp976Ter)
c.4784G>A (p.Trp1595Ter)
c.4811G>A (p.Trp1604Ter)
c.4697G>A (p.Trp1566Ter)
c.*24G>A (n.*24G>A)
n.5057G>A
n.5073G>A
c.3041G>A (p.Trp1014Ter)
c.2324G>A (p.Trp775Ter)
 ClinVar dbSNP
11g.68448892G>CCA381618143LRP5c.4670G>C (p.Trp1557Ser)
n.261G>C
c.340G>C
c.*3276G>C (n.*3276G>C)
c.2927G>C (p.Trp976Ser)
c.4784G>C (p.Trp1595Ser)
c.4811G>C (p.Trp1604Ser)
c.4697G>C (p.Trp1566Ser)
c.*24G>C (n.*24G>C)
n.5057G>C
n.5073G>C
c.3041G>C (p.Trp1014Ser)
c.2324G>C (p.Trp775Ser)
11g.68448892G>TCA381618145LRP5c.4670G>T (p.Trp1557Leu)
n.261G>T
c.340G>T
c.*3276G>T (n.*3276G>T)
c.2927G>T (p.Trp976Leu)
c.4784G>T (p.Trp1595Leu)
c.4811G>T (p.Trp1604Leu)
c.4697G>T (p.Trp1566Leu)
c.*24G>T (n.*24G>T)
n.5057G>T
n.5073G>T
c.3041G>T (p.Trp1014Leu)
c.2324G>T (p.Trp775Leu)
11g.68448893G>ACA381618147LRP5c.4671G>A (p.Trp1557Ter)
n.262G>A
c.341G>A
c.*3277G>A (n.*3277G>A)
c.2928G>A (p.Trp976Ter)
c.4785G>A (p.Trp1595Ter)
c.4812G>A (p.Trp1604Ter)
c.4698G>A (p.Trp1566Ter)
c.*25G>A (n.*25G>A)
n.5058G>A
n.5074G>A
c.3042G>A (p.Trp1014Ter)
c.2325G>A (p.Trp775Ter)
11g.68448893G>CCA381618152LRP5c.4671G>C (p.Trp1557Cys)
n.262G>C
c.341G>C
c.*3277G>C (n.*3277G>C)
c.2928G>C (p.Trp976Cys)
c.4785G>C (p.Trp1595Cys)
c.4812G>C (p.Trp1604Cys)
c.4698G>C (p.Trp1566Cys)
c.*25G>C (n.*25G>C)
n.5058G>C
n.5074G>C
c.3042G>C (p.Trp1014Cys)
c.2325G>C (p.Trp775Cys)
11g.68448893G>TCA381618153LRP5c.4671G>T (p.Trp1557Cys)
n.262G>T
c.341G>T
c.*3277G>T (n.*3277G>T)
c.2928G>T (p.Trp976Cys)
c.4785G>T (p.Trp1595Cys)
c.4812G>T (p.Trp1604Cys)
c.4698G>T (p.Trp1566Cys)
c.*25G>T (n.*25G>T)
n.5058G>T
n.5074G>T
c.3042G>T (p.Trp1014Cys)
c.2325G>T (p.Trp775Cys)
11g.68448894A>CCA381618155LRP5c.4672A>C (p.Lys1558Gln)
n.263A>C
c.342A>C
c.*3278A>C (n.*3278A>C)
c.2929A>C (p.Lys977Gln)
c.4786A>C (p.Lys1596Gln)
c.4813A>C (p.Lys1605Gln)
c.4699A>C (p.Lys1567Gln)
c.*26A>C (n.*26A>C)
n.5059A>C
n.5075A>C
c.3043A>C (p.Lys1015Gln)
c.2326A>C (p.Lys776Gln)
11g.68448894A>GCA381618157LRP5c.4672A>G (p.Lys1558Glu)
n.263A>G
c.342A>G
c.*3278A>G (n.*3278A>G)
c.2929A>G (p.Lys977Glu)
c.4786A>G (p.Lys1596Glu)
c.4813A>G (p.Lys1605Glu)
c.4699A>G (p.Lys1567Glu)
c.*26A>G (n.*26A>G)
n.5059A>G
n.5075A>G
c.3043A>G (p.Lys1015Glu)
c.2326A>G (p.Lys776Glu)
11g.68448894A>TCA381618159LRP5c.4672A>T (p.Lys1558Ter)
n.263A>T
c.342A>T
c.*3278A>T (n.*3278A>T)
c.2929A>T (p.Lys977Ter)
c.4786A>T (p.Lys1596Ter)
c.4813A>T (p.Lys1605Ter)
c.4699A>T (p.Lys1567Ter)
c.*26A>T (n.*26A>T)
n.5059A>T
n.5075A>T
c.3043A>T (p.Lys1015Ter)
c.2326A>T (p.Lys776Ter)
11g.68448895A=CA1980656719LRP5c.4673A= (p.Lys1558=)
n.264A=
c.343A=
c.*3279A= (n.*3279A=)
c.2930A= (p.Lys977=)
c.4787A= (p.Lys1596=)
c.4814A= (p.Lys1605=)
c.4700A= (p.Lys1567=)
c.*27A= (n.*27A=)
n.5060A=
n.5076A=
c.3044A= (p.Lys1015=)
c.2327A= (p.Lys776=)
11g.68448895A>CCA381618165LRP5c.4673A>C (p.Lys1558Thr)
n.264A>C
c.343A>C
c.*3279A>C (n.*3279A>C)
c.2930A>C (p.Lys977Thr)
c.4787A>C (p.Lys1596Thr)
c.4814A>C (p.Lys1605Thr)
c.4700A>C (p.Lys1567Thr)
c.*27A>C (n.*27A>C)
n.5060A>C
n.5076A>C
c.3044A>C (p.Lys1015Thr)
c.2327A>C (p.Lys776Thr)
11g.68448895A>GCA6150482LRP5c.4673A>G (p.Lys1558Arg)
n.264A>G
c.343A>G
c.*3279A>G (n.*3279A>G)
c.2930A>G (p.Lys977Arg)
c.4787A>G (p.Lys1596Arg)
c.4814A>G (p.Lys1605Arg)
c.4700A>G (p.Lys1567Arg)
c.*27A>G (n.*27A>G)
n.5060A>G
n.5076A>G
c.3044A>G (p.Lys1015Arg)
c.2327A>G (p.Lys776Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.68448895A>TCA381618163LRP5c.4673A>T (p.Lys1558Met)
n.264A>T
c.343A>T
c.*3279A>T (n.*3279A>T)
c.2930A>T (p.Lys977Met)
c.4787A>T (p.Lys1596Met)
c.4814A>T (p.Lys1605Met)
c.4700A>T (p.Lys1567Met)
c.*27A>T (n.*27A>T)
n.5060A>T
n.5076A>T
c.3044A>T (p.Lys1015Met)
c.2327A>T (p.Lys776Met)
11g.68448896G>ACA475462592LRP5c.4674G>A (p.Lys1558=)
n.265G>A
c.344G>A
c.*3280G>A (n.*3280G>A)
c.2931G>A (p.Lys977=)
c.4788G>A (p.Lys1596=)
c.4815G>A (p.Lys1605=)
c.4701G>A (p.Lys1567=)
c.*28G>A (n.*28G>A)
n.5061G>A
n.5077G>A
c.3045G>A (p.Lys1015=)
c.2328G>A (p.Lys776=)
 dbSNP gnomAD v2 gnomAD v4
11g.68448896G>CCA381618168LRP5c.4674G>C (p.Lys1558Asn)
n.265G>C
c.344G>C
c.*3280G>C (n.*3280G>C)
c.2931G>C (p.Lys977Asn)
c.4788G>C (p.Lys1596Asn)
c.4815G>C (p.Lys1605Asn)
c.4701G>C (p.Lys1567Asn)
c.*28G>C (n.*28G>C)
n.5061G>C
n.5077G>C
c.3045G>C (p.Lys1015Asn)
c.2328G>C (p.Lys776Asn)
11g.68448896G=CA1980656721LRP5c.4674G= (p.Lys1558=)
n.265G=
c.344G=
c.*3280G= (n.*3280G=)
c.2931G= (p.Lys977=)
c.4788G= (p.Lys1596=)
c.4815G= (p.Lys1605=)
c.4701G= (p.Lys1567=)
c.*28G= (n.*28G=)
n.5061G=
n.5077G=
c.3045G= (p.Lys1015=)
c.2328G= (p.Lys776=)
11g.68448896G>TCA381618169LRP5c.4674G>T (p.Lys1558Asn)
n.265G>T
c.344G>T
c.*3280G>T (n.*3280G>T)
c.2931G>T (p.Lys977Asn)
c.4788G>T (p.Lys1596Asn)
c.4815G>T (p.Lys1605Asn)
c.4701G>T (p.Lys1567Asn)
c.*28G>T (n.*28G>T)
n.5061G>T
n.5077G>T
c.3045G>T (p.Lys1015Asn)
c.2328G>T (p.Lys776Asn)
11g.68448897G>ACA381618172LRP5c.4675G>A (p.Ala1559Thr)
n.266G>A
c.345G>A
c.*3281G>A (n.*3281G>A)
c.2932G>A (p.Ala978Thr)
c.4789G>A (p.Ala1597Thr)
c.4816G>A (p.Ala1606Thr)
c.4702G>A (p.Ala1568Thr)
c.*29G>A (n.*29G>A)
n.5062G>A
n.5078G>A
c.3046G>A (p.Ala1016Thr)
c.2329G>A (p.Ala777Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.68448897G>CCA381618174LRP5c.4675G>C (p.Ala1559Pro)
n.266G>C
c.345G>C
c.*3281G>C (n.*3281G>C)
c.2932G>C (p.Ala978Pro)
c.4789G>C (p.Ala1597Pro)
c.4816G>C (p.Ala1606Pro)
c.4702G>C (p.Ala1568Pro)
c.*29G>C (n.*29G>C)
n.5062G>C
n.5078G>C
c.3046G>C (p.Ala1016Pro)
c.2329G>C (p.Ala777Pro)
 gnomAD v4
11g.68448897G=CA1980656722LRP5c.4675G= (p.Ala1559=)
n.266G=
c.345G=
c.*3281G= (n.*3281G=)
c.2932G= (p.Ala978=)
c.4789G= (p.Ala1597=)
c.4816G= (p.Ala1606=)
c.4702G= (p.Ala1568=)
c.*29G= (n.*29G=)
n.5062G=
n.5078G=
c.3046G= (p.Ala1016=)
c.2329G= (p.Ala777=)
11g.68448897G>TCA381618175LRP5c.4675G>T (p.Ala1559Ser)
n.266G>T
c.345G>T
c.*3281G>T (n.*3281G>T)
c.2932G>T (p.Ala978Ser)
c.4789G>T (p.Ala1597Ser)
c.4816G>T (p.Ala1606Ser)
c.4702G>T (p.Ala1568Ser)
c.*29G>T (n.*29G>T)
n.5062G>T
n.5078G>T
c.3046G>T (p.Ala1016Ser)
c.2329G>T (p.Ala777Ser)
11g.68448898C>ACA381618177LRP5c.4676C>A (p.Ala1559Asp)
n.267C>A
c.346C>A
c.*3282C>A (n.*3282C>A)
c.2933C>A (p.Ala978Asp)
c.4790C>A (p.Ala1597Asp)
c.4817C>A (p.Ala1606Asp)
c.4703C>A (p.Ala1568Asp)
c.*30C>A (n.*30C>A)
n.5063C>A
n.5079C>A
c.3047C>A (p.Ala1016Asp)
c.2330C>A (p.Ala777Asp)
11g.68448898C=CA1980656723LRP5c.4676C= (p.Ala1559=)
n.267C=
c.346C=
c.*3282C= (n.*3282C=)
c.2933C= (p.Ala978=)
c.4790C= (p.Ala1597=)
c.4817C= (p.Ala1606=)
c.4703C= (p.Ala1568=)
c.*30C= (n.*30C=)
n.5063C=
n.5079C=
c.3047C= (p.Ala1016=)
c.2330C= (p.Ala777=)
11g.68448898C>GCA381618180LRP5c.4676C>G (p.Ala1559Gly)
n.267C>G
c.346C>G
c.*3282C>G (n.*3282C>G)
c.2933C>G (p.Ala978Gly)
c.4790C>G (p.Ala1597Gly)
c.4817C>G (p.Ala1606Gly)
c.4703C>G (p.Ala1568Gly)
c.*30C>G (n.*30C>G)
n.5063C>G
n.5079C>G
c.3047C>G (p.Ala1016Gly)
c.2330C>G (p.Ala777Gly)
11g.68448898C>TCA381618181LRP5c.4676C>T (p.Ala1559Val)
n.267C>T
c.346C>T
c.*3282C>T (n.*3282C>T)
c.2933C>T (p.Ala978Val)
c.4790C>T (p.Ala1597Val)
c.4817C>T (p.Ala1606Val)
c.4703C>T (p.Ala1568Val)
c.*30C>T (n.*30C>T)
n.5063C>T
n.5079C>T
c.3047C>T (p.Ala1016Val)
c.2330C>T (p.Ala777Val)
 dbSNP gnomAD v2
11g.68448899C>ACA475462599LRP5c.4677C>A (p.Ala1559=)
n.268C>A
c.347C>A
c.*3283C>A (n.*3283C>A)
c.2934C>A (p.Ala978=)
c.4791C>A (p.Ala1597=)
c.4818C>A (p.Ala1606=)
c.4704C>A (p.Ala1568=)
c.*31C>A (n.*31C>A)
n.5064C>A
n.5080C>A
c.3048C>A (p.Ala1016=)
c.2331C>A (p.Ala777=)
11g.68448899C>GCA475462601LRP5c.4677C>G (p.Ala1559=)
n.268C>G
c.347C>G
c.*3283C>G (n.*3283C>G)
c.2934C>G (p.Ala978=)
c.4791C>G (p.Ala1597=)
c.4818C>G (p.Ala1606=)
c.4704C>G (p.Ala1568=)
c.*31C>G (n.*31C>G)
n.5064C>G
n.5080C>G
c.3048C>G (p.Ala1016=)
c.2331C>G (p.Ala777=)
11g.68448899C>TCA475462602LRP5c.4677C>T (p.Ala1559=)
n.268C>T
c.347C>T
c.*3283C>T (n.*3283C>T)
c.2934C>T (p.Ala978=)
c.4791C>T (p.Ala1597=)
c.4818C>T (p.Ala1606=)
c.4704C>T (p.Ala1568=)
c.*31C>T (n.*31C>T)
n.5064C>T
n.5080C>T
c.3048C>T (p.Ala1016=)
c.2331C>T (p.Ala777=)
11g.68448900A>CCA381618183LRP5c.4678A>C (p.Ser1560Arg)
n.269A>C
c.348A>C
c.*3284A>C (n.*3284A>C)
c.2935A>C (p.Ser979Arg)
c.4792A>C (p.Ser1598Arg)
c.4819A>C (p.Ser1607Arg)
c.4705A>C (p.Ser1569Arg)
c.*32A>C (n.*32A>C)
n.5065A>C
n.5081A>C
c.3049A>C (p.Ser1017Arg)
c.2332A>C (p.Ser778Arg)
11g.68448900A>GCA381618185LRP5c.4678A>G (p.Ser1560Gly)
n.269A>G
c.348A>G
c.*3284A>G (n.*3284A>G)
c.2935A>G (p.Ser979Gly)
c.4792A>G (p.Ser1598Gly)
c.4819A>G (p.Ser1607Gly)
c.4705A>G (p.Ser1569Gly)
c.*32A>G (n.*32A>G)
n.5065A>G
n.5081A>G
c.3049A>G (p.Ser1017Gly)
c.2332A>G (p.Ser778Gly)
11g.68448900A>TCA381618187LRP5c.4678A>T (p.Ser1560Cys)
n.269A>T
c.348A>T
c.*3284A>T (n.*3284A>T)
c.2935A>T (p.Ser979Cys)
c.4792A>T (p.Ser1598Cys)
c.4819A>T (p.Ser1607Cys)
c.4705A>T (p.Ser1569Cys)
c.*32A>T (n.*32A>T)
n.5065A>T
n.5081A>T
c.3049A>T (p.Ser1017Cys)
c.2332A>T (p.Ser778Cys)
11g.68448901G>ACA381618191LRP5c.4679G>A (p.Ser1560Asn)
n.270G>A
c.349G>A
c.*3285G>A (n.*3285G>A)
c.2936G>A (p.Ser979Asn)
c.4793G>A (p.Ser1598Asn)
c.4820G>A (p.Ser1607Asn)
c.4706G>A (p.Ser1569Asn)
c.*33G>A (n.*33G>A)
n.5066G>A
n.5082G>A
c.3050G>A (p.Ser1017Asn)
c.2333G>A (p.Ser778Asn)
 gnomAD v4
11g.68448901G>CCA381618193LRP5c.4679G>C (p.Ser1560Thr)
n.270G>C
c.349G>C
c.*3285G>C (n.*3285G>C)
c.2936G>C (p.Ser979Thr)
c.4793G>C (p.Ser1598Thr)
c.4820G>C (p.Ser1607Thr)
c.4706G>C (p.Ser1569Thr)
c.*33G>C (n.*33G>C)
n.5066G>C
n.5082G>C
c.3050G>C (p.Ser1017Thr)
c.2333G>C (p.Ser778Thr)
 gnomAD v4
11g.68448901G>TCA381618189LRP5c.4679G>T (p.Ser1560Ile)
n.270G>T
c.349G>T
c.*3285G>T (n.*3285G>T)
c.2936G>T (p.Ser979Ile)
c.4793G>T (p.Ser1598Ile)
c.4820G>T (p.Ser1607Ile)
c.4706G>T (p.Ser1569Ile)
c.*33G>T (n.*33G>T)
n.5066G>T
n.5082G>T
c.3050G>T (p.Ser1017Ile)
c.2333G>T (p.Ser778Ile)
11g.68448902C>ACA381618194LRP5c.4680C>A (p.Ser1560Arg)
n.271C>A
c.350C>A
c.*3286C>A (n.*3286C>A)
c.2937C>A (p.Ser979Arg)
c.4794C>A (p.Ser1598Arg)
c.4821C>A (p.Ser1607Arg)
c.4707C>A (p.Ser1569Arg)
c.*34C>A (n.*34C>A)
n.5067C>A
n.5083C>A
c.3051C>A (p.Ser1017Arg)
c.2334C>A (p.Ser778Arg)
11g.68448902C>GCA381618195LRP5c.4680C>G (p.Ser1560Arg)
n.271C>G
c.350C>G
c.*3286C>G (n.*3286C>G)
c.2937C>G (p.Ser979Arg)
c.4794C>G (p.Ser1598Arg)
c.4821C>G (p.Ser1607Arg)
c.4707C>G (p.Ser1569Arg)
c.*34C>G (n.*34C>G)
n.5067C>G
n.5083C>G
c.3051C>G (p.Ser1017Arg)
c.2334C>G (p.Ser778Arg)
11g.68448902C>TCA475462609LRP5c.4680C>T (p.Ser1560=)
n.271C>T
c.350C>T
c.*3286C>T (n.*3286C>T)
c.2937C>T (p.Ser979=)
c.4794C>T (p.Ser1598=)
c.4821C>T (p.Ser1607=)
c.4707C>T (p.Ser1569=)
c.*34C>T (n.*34C>T)
n.5067C>T
n.5083C>T
c.3051C>T (p.Ser1017=)
c.2334C>T (p.Ser778=)
11g.68448903A>CCA381618201LRP5c.4681A>C (p.Lys1561Gln)
n.272A>C
c.351A>C
c.*3287A>C (n.*3287A>C)
c.2938A>C (p.Lys980Gln)
c.4795A>C (p.Lys1599Gln)
c.4822A>C (p.Lys1608Gln)
c.4708A>C (p.Lys1570Gln)
c.*35A>C (n.*35A>C)
n.5068A>C
n.5084A>C
c.3052A>C (p.Lys1018Gln)
c.2335A>C (p.Lys779Gln)
11g.68448903A>GCA381618203LRP5c.4681A>G (p.Lys1561Glu)
n.272A>G
c.351A>G
c.*3287A>G (n.*3287A>G)
c.2938A>G (p.Lys980Glu)
c.4795A>G (p.Lys1599Glu)
c.4822A>G (p.Lys1608Glu)
c.4708A>G (p.Lys1570Glu)
c.*35A>G (n.*35A>G)
n.5068A>G
n.5084A>G
c.3052A>G (p.Lys1018Glu)
c.2335A>G (p.Lys779Glu)
 gnomAD v4
11g.68448903A>TCA381618205LRP5c.4681A>T (p.Lys1561Ter)
n.272A>T
c.351A>T
c.*3287A>T (n.*3287A>T)
c.2938A>T (p.Lys980Ter)
c.4795A>T (p.Lys1599Ter)
c.4822A>T (p.Lys1608Ter)
c.4708A>T (p.Lys1570Ter)
c.*35A>T (n.*35A>T)
n.5068A>T
n.5084A>T
c.3052A>T (p.Lys1018Ter)
c.2335A>T (p.Lys779Ter)
11g.68448904A>CCA381618207LRP5c.4682A>C (p.Lys1561Thr)
n.273A>C
c.352A>C
c.*3288A>C (n.*3288A>C)
c.2939A>C (p.Lys980Thr)
c.4796A>C (p.Lys1599Thr)
c.4823A>C (p.Lys1608Thr)
c.4709A>C (p.Lys1570Thr)
c.*36A>C (n.*36A>C)
n.5069A>C
n.5085A>C
c.3053A>C (p.Lys1018Thr)
c.2336A>C (p.Lys779Thr)
11g.68448904A>GCA381618209LRP5c.4682A>G (p.Lys1561Arg)
n.273A>G
c.352A>G
c.*3288A>G (n.*3288A>G)
c.2939A>G (p.Lys980Arg)
c.4796A>G (p.Lys1599Arg)
c.4823A>G (p.Lys1608Arg)
c.4709A>G (p.Lys1570Arg)
c.*36A>G (n.*36A>G)
n.5069A>G
n.5085A>G
c.3053A>G (p.Lys1018Arg)
c.2336A>G (p.Lys779Arg)
 gnomAD v4
11g.68448904A>TCA381618211LRP5c.4682A>T (p.Lys1561Met)
n.273A>T
c.352A>T
c.*3288A>T (n.*3288A>T)
c.2939A>T (p.Lys980Met)
c.4796A>T (p.Lys1599Met)
c.4823A>T (p.Lys1608Met)
c.4709A>T (p.Lys1570Met)
c.*36A>T (n.*36A>T)
n.5069A>T
n.5085A>T
c.3053A>T (p.Lys1018Met)
c.2336A>T (p.Lys779Met)
11g.68448905G>ACA475462617LRP5c.4683G>A (p.Lys1561=)
n.274G>A
c.353G>A
c.*3289G>A (n.*3289G>A)
c.2940G>A (p.Lys980=)
c.4797G>A (p.Lys1599=)
c.4824G>A (p.Lys1608=)
c.4710G>A (p.Lys1570=)
c.*37G>A (n.*37G>A)
n.5070G>A
n.5086G>A
c.3054G>A (p.Lys1018=)
c.2337G>A (p.Lys779=)
 dbSNP
11g.68448905G>CCA381618213LRP5c.4683G>C (p.Lys1561Asn)
n.274G>C
c.353G>C
c.*3289G>C (n.*3289G>C)
c.2940G>C (p.Lys980Asn)
c.4797G>C (p.Lys1599Asn)
c.4824G>C (p.Lys1608Asn)
c.4710G>C (p.Lys1570Asn)
c.*37G>C (n.*37G>C)
n.5070G>C
n.5086G>C
c.3054G>C (p.Lys1018Asn)
c.2337G>C (p.Lys779Asn)
11g.68448905G=CA1980656725LRP5c.4683G= (p.Lys1561=)
n.274G=
c.353G=
c.*3289G= (n.*3289G=)
c.2940G= (p.Lys980=)
c.4797G= (p.Lys1599=)
c.4824G= (p.Lys1608=)
c.4710G= (p.Lys1570=)
c.*37G= (n.*37G=)
n.5070G=
n.5086G=
c.3054G= (p.Lys1018=)
c.2337G= (p.Lys779=)
11g.68448905G>TCA381618214LRP5c.4683G>T (p.Lys1561Asn)
n.274G>T
c.353G>T
c.*3289G>T (n.*3289G>T)
c.2940G>T (p.Lys980Asn)
c.4797G>T (p.Lys1599Asn)
c.4824G>T (p.Lys1608Asn)
c.4710G>T (p.Lys1570Asn)
c.*37G>T (n.*37G>T)
n.5070G>T
n.5086G>T
c.3054G>T (p.Lys1018Asn)
c.2337G>T (p.Lys779Asn)
11g.68448906T>ACA381618217LRP5c.4684T>A (p.Tyr1562Asn)
n.275T>A
c.354T>A
c.*3290T>A (n.*3290T>A)
c.2941T>A (p.Tyr981Asn)
c.4798T>A (p.Tyr1600Asn)
c.4825T>A (p.Tyr1609Asn)
c.4711T>A (p.Tyr1571Asn)
c.*38T>A (n.*38T>A)
n.5071T>A
n.5087T>A
c.3055T>A (p.Tyr1019Asn)
c.2338T>A (p.Tyr780Asn)
11g.68448906T>CCA381618219LRP5c.4684T>C (p.Tyr1562His)
n.275T>C
c.354T>C
c.*3290T>C (n.*3290T>C)
c.2941T>C (p.Tyr981His)
c.4798T>C (p.Tyr1600His)
c.4825T>C (p.Tyr1609His)
c.4711T>C (p.Tyr1571His)
c.*38T>C (n.*38T>C)
n.5071T>C
n.5087T>C
c.3055T>C (p.Tyr1019His)
c.2338T>C (p.Tyr780His)
11g.68448906T>GCA381618220LRP5c.4684T>G (p.Tyr1562Asp)
n.275T>G
c.354T>G
c.*3290T>G (n.*3290T>G)
c.2941T>G (p.Tyr981Asp)
c.4798T>G (p.Tyr1600Asp)
c.4825T>G (p.Tyr1609Asp)
c.4711T>G (p.Tyr1571Asp)
c.*38T>G (n.*38T>G)
n.5071T>G
n.5087T>G
c.3055T>G (p.Tyr1019Asp)
c.2338T>G (p.Tyr780Asp)
11g.68448907A=CA1980656727LRP5c.4685A= (p.Tyr1562=)
n.276A=
c.355A=
c.*3291A= (n.*3291A=)
c.2942A= (p.Tyr981=)
c.4799A= (p.Tyr1600=)
c.4826A= (p.Tyr1609=)
c.4712A= (p.Tyr1571=)
c.*39A= (n.*39A=)
n.5072A=
n.5088A=
c.3056A= (p.Tyr1019=)
c.2339A= (p.Tyr780=)
11g.68448907A>CCA381618223LRP5c.4685A>C (p.Tyr1562Ser)
n.276A>C
c.355A>C
c.*3291A>C (n.*3291A>C)
c.2942A>C (p.Tyr981Ser)
c.4799A>C (p.Tyr1600Ser)
c.4826A>C (p.Tyr1609Ser)
c.4712A>C (p.Tyr1571Ser)
c.*39A>C (n.*39A>C)
n.5072A>C
n.5088A>C
c.3056A>C (p.Tyr1019Ser)
c.2339A>C (p.Tyr780Ser)
11g.68448907A>GCA6150483LRP5c.4685A>G (p.Tyr1562Cys)
n.276A>G
c.355A>G
c.*3291A>G (n.*3291A>G)
c.2942A>G (p.Tyr981Cys)
c.4799A>G (p.Tyr1600Cys)
c.4826A>G (p.Tyr1609Cys)
c.4712A>G (p.Tyr1571Cys)
c.*39A>G (n.*39A>G)
n.5072A>G
n.5088A>G
c.3056A>G (p.Tyr1019Cys)
c.2339A>G (p.Tyr780Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448907A>TCA381618221LRP5c.4685A>T (p.Tyr1562Phe)
n.276A>T
c.355A>T
c.*3291A>T (n.*3291A>T)
c.2942A>T (p.Tyr981Phe)
c.4799A>T (p.Tyr1600Phe)
c.4826A>T (p.Tyr1609Phe)
c.4712A>T (p.Tyr1571Phe)
c.*39A>T (n.*39A>T)
n.5072A>T
n.5088A>T
c.3056A>T (p.Tyr1019Phe)
c.2339A>T (p.Tyr780Phe)
11g.68448908C>ACA381618225LRP5c.4686C>A (p.Tyr1562Ter)
n.277C>A
c.356C>A
c.*3292C>A (n.*3292C>A)
c.2943C>A (p.Tyr981Ter)
c.4800C>A (p.Tyr1600Ter)
c.4827C>A (p.Tyr1609Ter)
c.4713C>A (p.Tyr1571Ter)
c.*40C>A (n.*40C>A)
n.5073C>A
n.5089C>A
c.3057C>A (p.Tyr1019Ter)
c.2340C>A (p.Tyr780Ter)
11g.68448908C>GCA381618227LRP5c.4686C>G (p.Tyr1562Ter)
n.277C>G
c.356C>G
c.*3292C>G (n.*3292C>G)
c.2943C>G (p.Tyr981Ter)
c.4800C>G (p.Tyr1600Ter)
c.4827C>G (p.Tyr1609Ter)
c.4713C>G (p.Tyr1571Ter)
c.*40C>G (n.*40C>G)
n.5073C>G
n.5089C>G
c.3057C>G (p.Tyr1019Ter)
c.2340C>G (p.Tyr780Ter)
11g.68448908C>TCA475462625LRP5c.4686C>T (p.Tyr1562=)
n.277C>T
c.356C>T
c.*3292C>T (n.*3292C>T)
c.2943C>T (p.Tyr981=)
c.4800C>T (p.Tyr1600=)
c.4827C>T (p.Tyr1609=)
c.4713C>T (p.Tyr1571=)
c.*40C>T (n.*40C>T)
n.5073C>T
n.5089C>T
c.3057C>T (p.Tyr1019=)
c.2340C>T (p.Tyr780=)
 gnomAD v4
11g.68448909T>ACA6150484LRP5c.4687T>A (p.Tyr1563Asn)
n.278T>A
c.357T>A
c.*3293T>A (n.*3293T>A)
c.2944T>A (p.Tyr982Asn)
c.4801T>A (p.Tyr1601Asn)
c.4828T>A (p.Tyr1610Asn)
c.4714T>A (p.Tyr1572Asn)
c.*41T>A (n.*41T>A)
n.5074T>A
n.5090T>A
c.3058T>A (p.Tyr1020Asn)
c.2341T>A (p.Tyr781Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68448909T>CCA381618229LRP5c.4687T>C (p.Tyr1563His)
n.278T>C
c.357T>C
c.*3293T>C (n.*3293T>C)
c.2944T>C (p.Tyr982His)
c.4801T>C (p.Tyr1601His)
c.4828T>C (p.Tyr1610His)
c.4714T>C (p.Tyr1572His)
c.*41T>C (n.*41T>C)
n.5074T>C
n.5090T>C
c.3058T>C (p.Tyr1020His)
c.2341T>C (p.Tyr781His)
 dbSNP gnomAD v4
11g.68448909T>GCA381618231LRP5c.4687T>G (p.Tyr1563Asp)
n.278T>G
c.357T>G
c.*3293T>G (n.*3293T>G)
c.2944T>G (p.Tyr982Asp)
c.4801T>G (p.Tyr1601Asp)
c.4828T>G (p.Tyr1610Asp)
c.4714T>G (p.Tyr1572Asp)
c.*41T>G (n.*41T>G)
n.5074T>G
n.5090T>G
c.3058T>G (p.Tyr1020Asp)
c.2341T>G (p.Tyr781Asp)
 dbSNP gnomAD v3 gnomAD v4
11g.68448909T=CA1980656730LRP5c.4687T= (p.Tyr1563=)
n.278T=
c.357T=
c.*3293T= (n.*3293T=)
c.2944T= (p.Tyr982=)
c.4801T= (p.Tyr1601=)
c.4828T= (p.Tyr1610=)
c.4714T= (p.Tyr1572=)
c.*41T= (n.*41T=)
n.5074T=
n.5090T=
c.3058T= (p.Tyr1020=)
c.2341T= (p.Tyr781=)
11g.68448910A=CA1980656732LRP5c.4688A= (p.Tyr1563=)
n.279A=
c.358A=
c.*3294A= (n.*3294A=)
c.2945A= (p.Tyr982=)
c.4802A= (p.Tyr1601=)
c.4829A= (p.Tyr1610=)
c.4715A= (p.Tyr1572=)
c.*42A= (n.*42A=)
n.5075A=
n.5091A=
c.3059A= (p.Tyr1020=)
c.2342A= (p.Tyr781=)
11g.68448910A>CCA381618233LRP5c.4688A>C (p.Tyr1563Ser)
n.279A>C
c.358A>C
c.*3294A>C (n.*3294A>C)
c.2945A>C (p.Tyr982Ser)
c.4802A>C (p.Tyr1601Ser)
c.4829A>C (p.Tyr1610Ser)
c.4715A>C (p.Tyr1572Ser)
c.*42A>C (n.*42A>C)
n.5075A>C
n.5091A>C
c.3059A>C (p.Tyr1020Ser)
c.2342A>C (p.Tyr781Ser)
11g.68448910A>GCA381618235LRP5c.4688A>G (p.Tyr1563Cys)
n.279A>G
c.358A>G
c.*3294A>G (n.*3294A>G)
c.2945A>G (p.Tyr982Cys)
c.4802A>G (p.Tyr1601Cys)
c.4829A>G (p.Tyr1610Cys)
c.4715A>G (p.Tyr1572Cys)
c.*42A>G (n.*42A>G)
n.5075A>G
n.5091A>G
c.3059A>G (p.Tyr1020Cys)
c.2342A>G (p.Tyr781Cys)
 dbSNP gnomAD v4
11g.68448910A>TCA381618237LRP5c.4688A>T (p.Tyr1563Phe)
n.279A>T
c.358A>T
c.*3294A>T (n.*3294A>T)
c.2945A>T (p.Tyr982Phe)
c.4802A>T (p.Tyr1601Phe)
c.4829A>T (p.Tyr1610Phe)
c.4715A>T (p.Tyr1572Phe)
c.*42A>T (n.*42A>T)
n.5075A>T
n.5091A>T
c.3059A>T (p.Tyr1020Phe)
c.2342A>T (p.Tyr781Phe)
11g.68448911C>ACA381618238LRP5c.4689C>A (p.Tyr1563Ter)
n.280C>A
c.359C>A
c.*3295C>A (n.*3295C>A)
c.2946C>A (p.Tyr982Ter)
c.4803C>A (p.Tyr1601Ter)
c.4830C>A (p.Tyr1610Ter)
c.4716C>A (p.Tyr1572Ter)
c.*43C>A (n.*43C>A)
n.5076C>A
n.5092C>A
c.3060C>A (p.Tyr1020Ter)
c.2343C>A (p.Tyr781Ter)
11g.68448911C=CA1980656736LRP5c.4689C= (p.Tyr1563=)
n.280C=
c.359C=
c.*3295C= (n.*3295C=)
c.2946C= (p.Tyr982=)
c.4803C= (p.Tyr1601=)
c.4830C= (p.Tyr1610=)
c.4716C= (p.Tyr1572=)
c.*43C= (n.*43C=)
n.5076C=
n.5092C=
c.3060C= (p.Tyr1020=)
c.2343C= (p.Tyr781=)
11g.68448911C>GCA381618240LRP5c.4689C>G (p.Tyr1563Ter)
n.280C>G
c.359C>G
c.*3295C>G (n.*3295C>G)
c.2946C>G (p.Tyr982Ter)
c.4803C>G (p.Tyr1601Ter)
c.4830C>G (p.Tyr1610Ter)
c.4716C>G (p.Tyr1572Ter)
c.*43C>G (n.*43C>G)
n.5076C>G
n.5092C>G
c.3060C>G (p.Tyr1020Ter)
c.2343C>G (p.Tyr781Ter)
11g.68448911C>TCA6150485LRP5c.4689C>T (p.Tyr1563=)
n.280C>T
c.359C>T
c.*3295C>T (n.*3295C>T)
c.2946C>T (p.Tyr982=)
c.4803C>T (p.Tyr1601=)
c.4830C>T (p.Tyr1610=)
c.4716C>T (p.Tyr1572=)
c.*43C>T (n.*43C>T)
n.5076C>T
n.5092C>T
c.3060C>T (p.Tyr1020=)
c.2343C>T (p.Tyr781=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448912C>ACA381618242LRP5c.4690C>A (p.Leu1564Met)
n.281C>A
c.360C>A
c.*3296C>A (n.*3296C>A)
c.2947C>A (p.Leu983Met)
c.4804C>A (p.Leu1602Met)
c.4831C>A (p.Leu1611Met)
c.4717C>A (p.Leu1573Met)
c.*44C>A (n.*44C>A)
n.5077C>A
n.5093C>A
c.3061C>A (p.Leu1021Met)
c.2344C>A (p.Leu782Met)
11g.68448912C=CA1980656737LRP5c.4690C= (p.Leu1564=)
n.281C=
c.360C=
c.*3296C= (n.*3296C=)
c.2947C= (p.Leu983=)
c.4804C= (p.Leu1602=)
c.4831C= (p.Leu1611=)
c.4717C= (p.Leu1573=)
c.*44C= (n.*44C=)
n.5077C=
n.5093C=
c.3061C= (p.Leu1021=)
c.2344C= (p.Leu782=)
11g.68448912C>GCA381618244LRP5c.4690C>G (p.Leu1564Val)
n.281C>G
c.360C>G
c.*3296C>G (n.*3296C>G)
c.2947C>G (p.Leu983Val)
c.4804C>G (p.Leu1602Val)
c.4831C>G (p.Leu1611Val)
c.4717C>G (p.Leu1573Val)
c.*44C>G (n.*44C>G)
n.5077C>G
n.5093C>G
c.3061C>G (p.Leu1021Val)
c.2344C>G (p.Leu782Val)
11g.68448912C>TCA475462635LRP5c.4690C>T (p.Leu1564=)
n.281C>T
c.360C>T
c.*3296C>T (n.*3296C>T)
c.2947C>T (p.Leu983=)
c.4804C>T (p.Leu1602=)
c.4831C>T (p.Leu1611=)
c.4717C>T (p.Leu1573=)
c.*44C>T (n.*44C>T)
n.5077C>T
n.5093C>T
c.3061C>T (p.Leu1021=)
c.2344C>T (p.Leu782=)
 dbSNP
11g.68448913T>ACA381618250LRP5c.4691T>A (p.Leu1564Gln)
n.282T>A
c.361T>A
c.*3297T>A (n.*3297T>A)
c.2948T>A (p.Leu983Gln)
c.4805T>A (p.Leu1602Gln)
c.4832T>A (p.Leu1611Gln)
c.4718T>A (p.Leu1573Gln)
c.*45T>A (n.*45T>A)
n.5078T>A
n.5094T>A
c.3062T>A (p.Leu1021Gln)
c.2345T>A (p.Leu782Gln)
11g.68448913T>CCA381618248LRP5c.4691T>C (p.Leu1564Pro)
n.282T>C
c.361T>C
c.*3297T>C (n.*3297T>C)
c.2948T>C (p.Leu983Pro)
c.4805T>C (p.Leu1602Pro)
c.4832T>C (p.Leu1611Pro)
c.4718T>C (p.Leu1573Pro)
c.*45T>C (n.*45T>C)
n.5078T>C
n.5094T>C
c.3062T>C (p.Leu1021Pro)
c.2345T>C (p.Leu782Pro)
11g.68448913T>GCA381618246LRP5c.4691T>G (p.Leu1564Arg)
n.282T>G
c.361T>G
c.*3297T>G (n.*3297T>G)
c.2948T>G (p.Leu983Arg)
c.4805T>G (p.Leu1602Arg)
c.4832T>G (p.Leu1611Arg)
c.4718T>G (p.Leu1573Arg)
c.*45T>G (n.*45T>G)
n.5078T>G
n.5094T>G
c.3062T>G (p.Leu1021Arg)
c.2345T>G (p.Leu782Arg)
11g.68448914G>ACA224260748LRP5c.4692G>A (p.Leu1564=)
n.283G>A
c.362G>A
c.*3298G>A (n.*3298G>A)
c.2949G>A (p.Leu983=)
c.4806G>A (p.Leu1602=)
c.4833G>A (p.Leu1611=)
c.4719G>A (p.Leu1573=)
c.*46G>A (n.*46G>A)
n.5079G>A
n.5095G>A
c.3063G>A (p.Leu1021=)
c.2346G>A (p.Leu782=)
 dbSNP gnomAD v3 gnomAD v4
11g.68448914G>CCA475462640LRP5c.4692G>C (p.Leu1564=)
n.283G>C
c.362G>C
c.*3298G>C (n.*3298G>C)
c.2949G>C (p.Leu983=)
c.4806G>C (p.Leu1602=)
c.4833G>C (p.Leu1611=)
c.4719G>C (p.Leu1573=)
c.*46G>C (n.*46G>C)
n.5079G>C
n.5095G>C
c.3063G>C (p.Leu1021=)
c.2346G>C (p.Leu782=)
11g.68448914G=CA1980656739LRP5c.4692G= (p.Leu1564=)
n.283G=
c.362G=
c.*3298G= (n.*3298G=)
c.2949G= (p.Leu983=)
c.4806G= (p.Leu1602=)
c.4833G= (p.Leu1611=)
c.4719G= (p.Leu1573=)
c.*46G= (n.*46G=)
n.5079G=
n.5095G=
c.3063G= (p.Leu1021=)
c.2346G= (p.Leu782=)
11g.68448914G>TCA475462642LRP5c.4692G>T (p.Leu1564=)
n.283G>T
c.362G>T
c.*3298G>T (n.*3298G>T)
c.2949G>T (p.Leu983=)
c.4806G>T (p.Leu1602=)
c.4833G>T (p.Leu1611=)
c.4719G>T (p.Leu1573=)
c.*46G>T (n.*46G>T)
n.5079G>T
n.5095G>T
c.3063G>T (p.Leu1021=)
c.2346G>T (p.Leu782=)
11g.68448915G>ACA381618257LRP5c.4693G>A (p.Asp1565Asn)
n.284G>A
c.363G>A
c.*3299G>A (n.*3299G>A)
c.2950G>A (p.Asp984Asn)
c.4807G>A (p.Asp1603Asn)
c.4834G>A (p.Asp1612Asn)
c.4720G>A (p.Asp1574Asn)
c.*47G>A (n.*47G>A)
n.5080G>A
n.5096G>A
c.3064G>A (p.Asp1022Asn)
c.2347G>A (p.Asp783Asn)
 dbSNP gnomAD v3 gnomAD v4
11g.68448915G>CCA381618259LRP5c.4693G>C (p.Asp1565His)
n.284G>C
c.363G>C
c.*3299G>C (n.*3299G>C)
c.2950G>C (p.Asp984His)
c.4807G>C (p.Asp1603His)
c.4834G>C (p.Asp1612His)
c.4720G>C (p.Asp1574His)
c.*47G>C (n.*47G>C)
n.5080G>C
n.5096G>C
c.3064G>C (p.Asp1022His)
c.2347G>C (p.Asp783His)
11g.68448915G=CA1980656743LRP5c.4693G= (p.Asp1565=)
n.284G=
c.363G=
c.*3299G= (n.*3299G=)
c.2950G= (p.Asp984=)
c.4807G= (p.Asp1603=)
c.4834G= (p.Asp1612=)
c.4720G= (p.Asp1574=)
c.*47G= (n.*47G=)
n.5080G=
n.5096G=
c.3064G= (p.Asp1022=)
c.2347G= (p.Asp783=)
11g.68448915G>TCA381618262LRP5c.4693G>T (p.Asp1565Tyr)
n.284G>T
c.363G>T
c.*3299G>T (n.*3299G>T)
c.2950G>T (p.Asp984Tyr)
c.4807G>T (p.Asp1603Tyr)
c.4834G>T (p.Asp1612Tyr)
c.4720G>T (p.Asp1574Tyr)
c.*47G>T (n.*47G>T)
n.5080G>T
n.5096G>T
c.3064G>T (p.Asp1022Tyr)
c.2347G>T (p.Asp783Tyr)
11g.68448916A>CCA381618264LRP5c.4694A>C (p.Asp1565Ala)
n.285A>C
c.364A>C
c.*3300A>C (n.*3300A>C)
c.2951A>C (p.Asp984Ala)
c.4808A>C (p.Asp1603Ala)
c.4835A>C (p.Asp1612Ala)
c.4721A>C (p.Asp1574Ala)
c.*48A>C (n.*48A>C)
n.5081A>C
n.5097A>C
c.3065A>C (p.Asp1022Ala)
c.2348A>C (p.Asp783Ala)
11g.68448916A>GCA381618265LRP5c.4694A>G (p.Asp1565Gly)
n.285A>G
c.364A>G
c.*3300A>G (n.*3300A>G)
c.2951A>G (p.Asp984Gly)
c.4808A>G (p.Asp1603Gly)
c.4835A>G (p.Asp1612Gly)
c.4721A>G (p.Asp1574Gly)
c.*48A>G (n.*48A>G)
n.5081A>G
n.5097A>G
c.3065A>G (p.Asp1022Gly)
c.2348A>G (p.Asp783Gly)
11g.68448916A>TCA381618267LRP5c.4694A>T (p.Asp1565Val)
n.285A>T
c.364A>T
c.*3300A>T (n.*3300A>T)
c.2951A>T (p.Asp984Val)
c.4808A>T (p.Asp1603Val)
c.4835A>T (p.Asp1612Val)
c.4721A>T (p.Asp1574Val)
c.*48A>T (n.*48A>T)
n.5081A>T
n.5097A>T
c.3065A>T (p.Asp1022Val)
c.2348A>T (p.Asp783Val)
11g.68448916_68448957dupCA600239277LRP5c.4694_4735dup (p.Thr1578_Pro1579insHisLeuAsnSerAspSerAspProTyrProProProProThr)
n.285_326dup
c.364_405dup
c.*3300_*3341dup (n.*3300_*3341dup)
c.2951_2992dup (p.Thr997_Pro998insHisLeuAsnSerAspSerAspProTyrProProProProThr)
c.4808_4849dup (p.Thr1616_Pro1617insHisLeuAsnSerAspSerAspProTyrProProProProThr)
c.4835_4876dup (p.Thr1625_Pro1626insHisLeuAsnSerAspSerAspProTyrProProProProThr)
c.4721_4762dup (p.Thr1587_Pro1588insHisLeuAsnSerAspSerAspProTyrProProProProThr)
c.*48_*89dup (n.*48_*89dup)
n.5081_5122dup
n.5097_5138dup
c.3065_3106dup (p.Thr1035_Pro1036insHisLeuAsnSerAspSerAspProTyrProProProProThr)
c.2348_2389dup (p.Thr796_Pro797insHisLeuAsnSerAspSerAspProTyrProProProProThr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68448917T>ACA381618271LRP5c.4695T>A (p.Asp1565Glu)
n.286T>A
c.365T>A
c.*3301T>A (n.*3301T>A)
c.2952T>A (p.Asp984Glu)
c.4809T>A (p.Asp1603Glu)
c.4836T>A (p.Asp1612Glu)
c.4722T>A (p.Asp1574Glu)
c.*49T>A (n.*49T>A)
n.5082T>A
n.5098T>A
c.3066T>A (p.Asp1022Glu)
c.2349T>A (p.Asp783Glu)
11g.68448917T>CCA475462648LRP5c.4695T>C (p.Asp1565=)
n.286T>C
c.365T>C
c.*3301T>C (n.*3301T>C)
c.2952T>C (p.Asp984=)
c.4809T>C (p.Asp1603=)
c.4836T>C (p.Asp1612=)
c.4722T>C (p.Asp1574=)
c.*49T>C (n.*49T>C)
n.5082T>C
n.5098T>C
c.3066T>C (p.Asp1022=)
c.2349T>C (p.Asp783=)
11g.68448917T>GCA381618269LRP5c.4695T>G (p.Asp1565Glu)
n.286T>G
c.365T>G
c.*3301T>G (n.*3301T>G)
c.2952T>G (p.Asp984Glu)
c.4809T>G (p.Asp1603Glu)
c.4836T>G (p.Asp1612Glu)
c.4722T>G (p.Asp1574Glu)
c.*49T>G (n.*49T>G)
n.5082T>G
n.5098T>G
c.3066T>G (p.Asp1022Glu)
c.2349T>G (p.Asp783Glu)
11g.68448918T>ACA381618273LRP5c.4696T>A (p.Leu1566Met)
n.287T>A
c.366T>A
c.*3302T>A (n.*3302T>A)
c.2953T>A (p.Leu985Met)
c.4810T>A (p.Leu1604Met)
c.4837T>A (p.Leu1613Met)
c.4723T>A (p.Leu1575Met)
c.*50T>A (n.*50T>A)
n.5083T>A
n.5099T>A
c.3067T>A (p.Leu1023Met)
c.2350T>A (p.Leu784Met)
11g.68448918T>CCA475462650LRP5c.4696T>C (p.Leu1566=)
n.287T>C
c.366T>C
c.*3302T>C (n.*3302T>C)
c.2953T>C (p.Leu985=)
c.4810T>C (p.Leu1604=)
c.4837T>C (p.Leu1613=)
c.4723T>C (p.Leu1575=)
c.*50T>C (n.*50T>C)
n.5083T>C
n.5099T>C
c.3067T>C (p.Leu1023=)
c.2350T>C (p.Leu784=)
 dbSNP gnomAD v4
11g.68448918T>GCA381618274LRP5c.4696T>G (p.Leu1566Val)
n.287T>G
c.366T>G
c.*3302T>G (n.*3302T>G)
c.2953T>G (p.Leu985Val)
c.4810T>G (p.Leu1604Val)
c.4837T>G (p.Leu1613Val)
c.4723T>G (p.Leu1575Val)
c.*50T>G (n.*50T>G)
n.5083T>G
n.5099T>G
c.3067T>G (p.Leu1023Val)
c.2350T>G (p.Leu784Val)
11g.68448918T=CA1980656748LRP5c.4696T= (p.Leu1566=)
n.287T=
c.366T=
c.*3302T= (n.*3302T=)
c.2953T= (p.Leu985=)
c.4810T= (p.Leu1604=)
c.4837T= (p.Leu1613=)
c.4723T= (p.Leu1575=)
c.*50T= (n.*50T=)
n.5083T=
n.5099T=
c.3067T= (p.Leu1023=)
c.2350T= (p.Leu784=)
11g.68448919T>ACA381618276LRP5c.4697T>A (p.Leu1566Ter)
n.288T>A
c.367T>A
c.*3303T>A (n.*3303T>A)
c.2954T>A (p.Leu985Ter)
c.4811T>A (p.Leu1604Ter)
c.4838T>A (p.Leu1613Ter)
c.4724T>A (p.Leu1575Ter)
c.*51T>A (n.*51T>A)
n.5084T>A
n.5100T>A
c.3068T>A (p.Leu1023Ter)
c.2351T>A (p.Leu784Ter)
11g.68448919T>CCA381618278LRP5c.4697T>C (p.Leu1566Ser)
n.288T>C
c.367T>C
c.*3303T>C (n.*3303T>C)
c.2954T>C (p.Leu985Ser)
c.4811T>C (p.Leu1604Ser)
c.4838T>C (p.Leu1613Ser)
c.4724T>C (p.Leu1575Ser)
c.*51T>C (n.*51T>C)
n.5084T>C
n.5100T>C
c.3068T>C (p.Leu1023Ser)
c.2351T>C (p.Leu784Ser)
11g.68448919T>GCA381618280LRP5c.4697T>G (p.Leu1566Trp)
n.288T>G
c.367T>G
c.*3303T>G (n.*3303T>G)
c.2954T>G (p.Leu985Trp)
c.4811T>G (p.Leu1604Trp)
c.4838T>G (p.Leu1613Trp)
c.4724T>G (p.Leu1575Trp)
c.*51T>G (n.*51T>G)
n.5084T>G
n.5100T>G
c.3068T>G (p.Leu1023Trp)
c.2351T>G (p.Leu784Trp)
11g.68448919_68448926delinsTGAACTCGCA1980656750LRP5c.4697_4704delinsTGAACTCG (p.Leu1566=)
n.288_295delinsTGAACTCG
c.367_374delinsTGAACTCG
c.*3303_*3310delinsTGAACTCG (n.*3303_*3310delinsTGAACTCG)
c.2954_2961delinsTGAACTCG (p.Leu985=)
c.4811_4818delinsTGAACTCG (p.Leu1604=)
c.4838_4845delinsTGAACTCG (p.Leu1613=)
c.4724_4731delinsTGAACTCG (p.Leu1575=)
c.*51_*58delinsTGAACTCG (n.*51_*58delinsTGAACTCG)
n.5084_5091delinsTGAACTCG
n.5100_5107delinsTGAACTCG
c.3068_3075delinsTGAACTCG (p.Leu1023=)
c.2351_2358delinsTGAACTCG (p.Leu784=)
11g.68448920G>ACA475462654LRP5c.4698G>A (p.Leu1566=)
n.289G>A
c.368G>A
c.*3304G>A (n.*3304G>A)
c.2955G>A (p.Leu985=)
c.4812G>A (p.Leu1604=)
c.4839G>A (p.Leu1613=)
c.4725G>A (p.Leu1575=)
c.*52G>A (n.*52G>A)
n.5085G>A
n.5101G>A
c.3069G>A (p.Leu1023=)
c.2352G>A (p.Leu784=)
11g.68448920G>CCA381618281LRP5c.4698G>C (p.Leu1566Phe)
n.289G>C
c.368G>C
c.*3304G>C (n.*3304G>C)
c.2955G>C (p.Leu985Phe)
c.4812G>C (p.Leu1604Phe)
c.4839G>C (p.Leu1613Phe)
c.4725G>C (p.Leu1575Phe)
c.*52G>C (n.*52G>C)
n.5085G>C
n.5101G>C
c.3069G>C (p.Leu1023Phe)
c.2352G>C (p.Leu784Phe)
11g.68448920G>TCA381618283LRP5c.4698G>T (p.Leu1566Phe)
n.289G>T
c.368G>T
c.*3304G>T (n.*3304G>T)
c.2955G>T (p.Leu985Phe)
c.4812G>T (p.Leu1604Phe)
c.4839G>T (p.Leu1613Phe)
c.4725G>T (p.Leu1575Phe)
c.*52G>T (n.*52G>T)
n.5085G>T
n.5101G>T
c.3069G>T (p.Leu1023Phe)
c.2352G>T (p.Leu784Phe)
11g.68448922_68448928delCA916083257LRP5c.4700_4706del (p.Asn1567ThrfsTer?)
n.291_297del
c.370_376del
c.*3306_*3312del (n.*3306_*3312del)
c.2957_2963del (p.Asn986ThrfsTer?)
c.4814_4820del (p.Asn1605ThrfsTer?)
c.4841_4847del (p.Asn1614ThrfsTer?)
c.4727_4733del (p.Asn1576ThrfsTer?)
c.*54_*60del (n.*54_*60del)
n.5087_5093del
n.5103_5109del
c.3071_3077del (p.Asn1024ThrfsTer?)
c.2354_2360del (p.Asn785ThrfsTer?)
 ClinVar dbSNP
11g.68448921A>CCA381618286LRP5c.4699A>C (p.Asn1567His)
n.290A>C
c.369A>C
c.*3305A>C (n.*3305A>C)
c.2956A>C (p.Asn986His)
c.4813A>C (p.Asn1605His)
c.4840A>C (p.Asn1614His)
c.4726A>C (p.Asn1576His)
c.*53A>C (n.*53A>C)
n.5086A>C
n.5102A>C
c.3070A>C (p.Asn1024His)
c.2353A>C (p.Asn785His)
11g.68448921A>GCA381618290LRP5c.4699A>G (p.Asn1567Asp)
n.290A>G
c.369A>G
c.*3305A>G (n.*3305A>G)
c.2956A>G (p.Asn986Asp)
c.4813A>G (p.Asn1605Asp)
c.4840A>G (p.Asn1614Asp)
c.4726A>G (p.Asn1576Asp)
c.*53A>G (n.*53A>G)
n.5086A>G
n.5102A>G
c.3070A>G (p.Asn1024Asp)
c.2353A>G (p.Asn785Asp)
11g.68448921A>TCA381618287LRP5c.4699A>T (p.Asn1567Tyr)
n.290A>T
c.369A>T
c.*3305A>T (n.*3305A>T)
c.2956A>T (p.Asn986Tyr)
c.4813A>T (p.Asn1605Tyr)
c.4840A>T (p.Asn1614Tyr)
c.4726A>T (p.Asn1576Tyr)
c.*53A>T (n.*53A>T)
n.5086A>T
n.5102A>T
c.3070A>T (p.Asn1024Tyr)
c.2353A>T (p.Asn785Tyr)
11g.68448922A=CA1980656754LRP5c.4700A= (p.Asn1567=)
n.291A=
c.370A=
c.*3306A= (n.*3306A=)
c.2957A= (p.Asn986=)
c.4814A= (p.Asn1605=)
c.4841A= (p.Asn1614=)
c.4727A= (p.Asn1576=)
c.*54A= (n.*54A=)
n.5087A=
n.5103A=
c.3071A= (p.Asn1024=)
c.2354A= (p.Asn785=)
11g.68448922A>CCA381618293LRP5c.4700A>C (p.Asn1567Thr)
n.291A>C
c.370A>C
c.*3306A>C (n.*3306A>C)
c.2957A>C (p.Asn986Thr)
c.4814A>C (p.Asn1605Thr)
c.4841A>C (p.Asn1614Thr)
c.4727A>C (p.Asn1576Thr)
c.*54A>C (n.*54A>C)
n.5087A>C
n.5103A>C
c.3071A>C (p.Asn1024Thr)
c.2354A>C (p.Asn785Thr)
 dbSNP
11g.68448922A>GCA381618294LRP5c.4700A>G (p.Asn1567Ser)
n.291A>G
c.370A>G
c.*3306A>G (n.*3306A>G)
c.2957A>G (p.Asn986Ser)
c.4814A>G (p.Asn1605Ser)
c.4841A>G (p.Asn1614Ser)
c.4727A>G (p.Asn1576Ser)
c.*54A>G (n.*54A>G)
n.5087A>G
n.5103A>G
c.3071A>G (p.Asn1024Ser)
c.2354A>G (p.Asn785Ser)
11g.68448922A>TCA381618296LRP5c.4700A>T (p.Asn1567Ile)
n.291A>T
c.370A>T
c.*3306A>T (n.*3306A>T)
c.2957A>T (p.Asn986Ile)
c.4814A>T (p.Asn1605Ile)
c.4841A>T (p.Asn1614Ile)
c.4727A>T (p.Asn1576Ile)
c.*54A>T (n.*54A>T)
n.5087A>T
n.5103A>T
c.3071A>T (p.Asn1024Ile)
c.2354A>T (p.Asn785Ile)
11g.68448923C>ACA381618298LRP5c.4701C>A (p.Asn1567Lys)
n.292C>A
c.371C>A
c.*3307C>A (n.*3307C>A)
c.2958C>A (p.Asn986Lys)
c.4815C>A (p.Asn1605Lys)
c.4842C>A (p.Asn1614Lys)
c.4728C>A (p.Asn1576Lys)
c.*55C>A (n.*55C>A)
n.5088C>A
n.5104C>A
c.3072C>A (p.Asn1024Lys)
c.2355C>A (p.Asn785Lys)
11g.68448923C>GCA381618300LRP5c.4701C>G (p.Asn1567Lys)
n.292C>G
c.371C>G
c.*3307C>G (n.*3307C>G)
c.2958C>G (p.Asn986Lys)
c.4815C>G (p.Asn1605Lys)
c.4842C>G (p.Asn1614Lys)
c.4728C>G (p.Asn1576Lys)
c.*55C>G (n.*55C>G)
n.5088C>G
n.5104C>G
c.3072C>G (p.Asn1024Lys)
c.2355C>G (p.Asn785Lys)
11g.68448923C>TCA475462667LRP5c.4701C>T (p.Asn1567=)
n.292C>T
c.371C>T
c.*3307C>T (n.*3307C>T)
c.2958C>T (p.Asn986=)
c.4815C>T (p.Asn1605=)
c.4842C>T (p.Asn1614=)
c.4728C>T (p.Asn1576=)
c.*55C>T (n.*55C>T)
n.5088C>T
n.5104C>T
c.3072C>T (p.Asn1024=)
c.2355C>T (p.Asn785=)
11g.68448924T>ACA381618302LRP5c.4702T>A (p.Ser1568Thr)
n.293T>A
c.372T>A
c.*3308T>A (n.*3308T>A)
c.2959T>A (p.Ser987Thr)
c.4816T>A (p.Ser1606Thr)
c.4843T>A (p.Ser1615Thr)
c.4729T>A (p.Ser1577Thr)
c.*56T>A (n.*56T>A)
n.5089T>A
n.5105T>A
c.3073T>A (p.Ser1025Thr)
c.2356T>A (p.Ser786Thr)
11g.68448924T>CCA381618304LRP5c.4702T>C (p.Ser1568Pro)
n.293T>C
c.372T>C
c.*3308T>C (n.*3308T>C)
c.2959T>C (p.Ser987Pro)
c.4816T>C (p.Ser1606Pro)
c.4843T>C (p.Ser1615Pro)
c.4729T>C (p.Ser1577Pro)
c.*56T>C (n.*56T>C)
n.5089T>C
n.5105T>C
c.3073T>C (p.Ser1025Pro)
c.2356T>C (p.Ser786Pro)
11g.68448924T>GCA381618306LRP5c.4702T>G (p.Ser1568Ala)
n.293T>G
c.372T>G
c.*3308T>G (n.*3308T>G)
c.2959T>G (p.Ser987Ala)
c.4816T>G (p.Ser1606Ala)
c.4843T>G (p.Ser1615Ala)
c.4729T>G (p.Ser1577Ala)
c.*56T>G (n.*56T>G)
n.5089T>G
n.5105T>G
c.3073T>G (p.Ser1025Ala)
c.2356T>G (p.Ser786Ala)
11g.68448925C>ACA381618308LRP5c.4703C>A (p.Ser1568Ter)
n.294C>A
c.373C>A
c.*3309C>A (n.*3309C>A)
c.2960C>A (p.Ser987Ter)
c.4817C>A (p.Ser1606Ter)
c.4844C>A (p.Ser1615Ter)
c.4730C>A (p.Ser1577Ter)
c.*57C>A (n.*57C>A)
n.5090C>A
n.5106C>A
c.3074C>A (p.Ser1025Ter)
c.2357C>A (p.Ser786Ter)
11g.68448925C=CA1980656756LRP5c.4703C= (p.Ser1568=)
n.294C=
c.373C=
c.*3309C= (n.*3309C=)
c.2960C= (p.Ser987=)
c.4817C= (p.Ser1606=)
c.4844C= (p.Ser1615=)
c.4730C= (p.Ser1577=)
c.*57C= (n.*57C=)
n.5090C=
n.5106C=
c.3074C= (p.Ser1025=)
c.2357C= (p.Ser786=)
11g.68448925C>GCA381618311LRP5c.4703C>G (p.Ser1568Trp)
n.294C>G
c.373C>G
c.*3309C>G (n.*3309C>G)
c.2960C>G (p.Ser987Trp)
c.4817C>G (p.Ser1606Trp)
c.4844C>G (p.Ser1615Trp)
c.4730C>G (p.Ser1577Trp)
c.*57C>G (n.*57C>G)
n.5090C>G
n.5106C>G
c.3074C>G (p.Ser1025Trp)
c.2357C>G (p.Ser786Trp)
11g.68448925C>TCA6150486LRP5c.4703C>T (p.Ser1568Leu)
n.294C>T
c.373C>T
c.*3309C>T (n.*3309C>T)
c.2960C>T (p.Ser987Leu)
c.4817C>T (p.Ser1606Leu)
c.4844C>T (p.Ser1615Leu)
c.4730C>T (p.Ser1577Leu)
c.*57C>T (n.*57C>T)
n.5090C>T
n.5106C>T
c.3074C>T (p.Ser1025Leu)
c.2357C>T (p.Ser786Leu)
 dbSNP ExAC gnomAD v3 gnomAD v4
11g.68448926G>ACA6150487LRP5c.4704G>A (p.Ser1568=)
n.295G>A
c.374G>A
c.*3310G>A (n.*3310G>A)
c.2961G>A (p.Ser987=)
c.4818G>A (p.Ser1606=)
c.4845G>A (p.Ser1615=)
c.4731G>A (p.Ser1577=)
c.*58G>A (n.*58G>A)
n.5091G>A
n.5107G>A
c.3075G>A (p.Ser1025=)
c.2358G>A (p.Ser786=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448926G>CCA475462676LRP5c.4704G>C (p.Ser1568=)
n.295G>C
c.374G>C
c.*3310G>C (n.*3310G>C)
c.2961G>C (p.Ser987=)
c.4818G>C (p.Ser1606=)
c.4845G>C (p.Ser1615=)
c.4731G>C (p.Ser1577=)
c.*58G>C (n.*58G>C)
n.5091G>C
n.5107G>C
c.3075G>C (p.Ser1025=)
c.2358G>C (p.Ser786=)
11g.68448926G=CA1980656759LRP5c.4704G= (p.Ser1568=)
n.295G=
c.374G=
c.*3310G= (n.*3310G=)
c.2961G= (p.Ser987=)
c.4818G= (p.Ser1606=)
c.4845G= (p.Ser1615=)
c.4731G= (p.Ser1577=)
c.*58G= (n.*58G=)
n.5091G=
n.5107G=
c.3075G= (p.Ser1025=)
c.2358G= (p.Ser786=)
11g.68448926G>TCA475462674LRP5c.4704G>T (p.Ser1568=)
n.295G>T
c.374G>T
c.*3310G>T (n.*3310G>T)
c.2961G>T (p.Ser987=)
c.4818G>T (p.Ser1606=)
c.4845G>T (p.Ser1615=)
c.4731G>T (p.Ser1577=)
c.*58G>T (n.*58G>T)
n.5091G>T
n.5107G>T
c.3075G>T (p.Ser1025=)
c.2358G>T (p.Ser786=)
11g.68448927G>ACA381618319LRP5c.4705G>A (p.Asp1569Asn)
n.296G>A
c.375G>A
c.*3311G>A (n.*3311G>A)
c.2962G>A (p.Asp988Asn)
c.4819G>A (p.Asp1607Asn)
c.4846G>A (p.Asp1616Asn)
c.4732G>A (p.Asp1578Asn)
c.*59G>A (n.*59G>A)
n.5092G>A
n.5108G>A
c.3076G>A (p.Asp1026Asn)
c.2359G>A (p.Asp787Asn)
11g.68448927G>CCA381618314LRP5c.4705G>C (p.Asp1569His)
n.296G>C
c.375G>C
c.*3311G>C (n.*3311G>C)
c.2962G>C (p.Asp988His)
c.4819G>C (p.Asp1607His)
c.4846G>C (p.Asp1616His)
c.4732G>C (p.Asp1578His)
c.*59G>C (n.*59G>C)
n.5092G>C
n.5108G>C
c.3076G>C (p.Asp1026His)
c.2359G>C (p.Asp787His)
11g.68448927G>TCA381618317LRP5c.4705G>T (p.Asp1569Tyr)
n.296G>T
c.375G>T
c.*3311G>T (n.*3311G>T)
c.2962G>T (p.Asp988Tyr)
c.4819G>T (p.Asp1607Tyr)
c.4846G>T (p.Asp1616Tyr)
c.4732G>T (p.Asp1578Tyr)
c.*59G>T (n.*59G>T)
n.5092G>T
n.5108G>T
c.3076G>T (p.Asp1026Tyr)
c.2359G>T (p.Asp787Tyr)
11g.68448928A=CA1980656763LRP5c.4706A= (p.Asp1569=)
n.297A=
c.376A=
c.*3312A= (n.*3312A=)
c.2963A= (p.Asp988=)
c.4820A= (p.Asp1607=)
c.4847A= (p.Asp1616=)
c.4733A= (p.Asp1578=)
c.*60A= (n.*60A=)
n.5093A=
n.5109A=
c.3077A= (p.Asp1026=)
c.2360A= (p.Asp787=)
11g.68448928A>CCA381618322LRP5c.4706A>C (p.Asp1569Ala)
n.297A>C
c.376A>C
c.*3312A>C (n.*3312A>C)
c.2963A>C (p.Asp988Ala)
c.4820A>C (p.Asp1607Ala)
c.4847A>C (p.Asp1616Ala)
c.4733A>C (p.Asp1578Ala)
c.*60A>C (n.*60A>C)
n.5093A>C
n.5109A>C
c.3077A>C (p.Asp1026Ala)
c.2360A>C (p.Asp787Ala)
11g.68448928A>GCA381618323LRP5c.4706A>G (p.Asp1569Gly)
n.297A>G
c.376A>G
c.*3312A>G (n.*3312A>G)
c.2963A>G (p.Asp988Gly)
c.4820A>G (p.Asp1607Gly)
c.4847A>G (p.Asp1616Gly)
c.4733A>G (p.Asp1578Gly)
c.*60A>G (n.*60A>G)
n.5093A>G
n.5109A>G
c.3077A>G (p.Asp1026Gly)
c.2360A>G (p.Asp787Gly)
 dbSNP gnomAD v3 gnomAD v4
11g.68448928A>TCA381618326LRP5c.4706A>T (p.Asp1569Val)
n.297A>T
c.376A>T
c.*3312A>T (n.*3312A>T)
c.2963A>T (p.Asp988Val)
c.4820A>T (p.Asp1607Val)
c.4847A>T (p.Asp1616Val)
c.4733A>T (p.Asp1578Val)
c.*60A>T (n.*60A>T)
n.5093A>T
n.5109A>T
c.3077A>T (p.Asp1026Val)
c.2360A>T (p.Asp787Val)
11g.68448929C>ACA381618328LRP5c.4707C>A (p.Asp1569Glu)
n.298C>A
c.377C>A
c.*3313C>A (n.*3313C>A)
c.2964C>A (p.Asp988Glu)
c.4821C>A (p.Asp1607Glu)
c.4848C>A (p.Asp1616Glu)
c.4734C>A (p.Asp1578Glu)
c.*61C>A (n.*61C>A)
n.5094C>A
n.5110C>A
c.3078C>A (p.Asp1026Glu)
c.2361C>A (p.Asp787Glu)
11g.68448929C>GCA381618329LRP5c.4707C>G (p.Asp1569Glu)
n.298C>G
c.377C>G
c.*3313C>G (n.*3313C>G)
c.2964C>G (p.Asp988Glu)
c.4821C>G (p.Asp1607Glu)
c.4848C>G (p.Asp1616Glu)
c.4734C>G (p.Asp1578Glu)
c.*61C>G (n.*61C>G)
n.5094C>G
n.5110C>G
c.3078C>G (p.Asp1026Glu)
c.2361C>G (p.Asp787Glu)
11g.68448929C>TCA475462681LRP5c.4707C>T (p.Asp1569=)
n.298C>T
c.377C>T
c.*3313C>T (n.*3313C>T)
c.2964C>T (p.Asp988=)
c.4821C>T (p.Asp1607=)
c.4848C>T (p.Asp1616=)
c.4734C>T (p.Asp1578=)
c.*61C>T (n.*61C>T)
n.5094C>T
n.5110C>T
c.3078C>T (p.Asp1026=)
c.2361C>T (p.Asp787=)
11g.68448930T>ACA381618334LRP5c.4708T>A (p.Ser1570Thr)
n.299T>A
c.378T>A
c.*3314T>A (n.*3314T>A)
c.2965T>A (p.Ser989Thr)
c.4822T>A (p.Ser1608Thr)
c.4849T>A (p.Ser1617Thr)
c.4735T>A (p.Ser1579Thr)
c.*62T>A (n.*62T>A)
n.5095T>A
n.5111T>A
c.3079T>A (p.Ser1027Thr)
c.2362T>A (p.Ser788Thr)
11g.68448930T>CCA381618332LRP5c.4708T>C (p.Ser1570Pro)
n.299T>C
c.378T>C
c.*3314T>C (n.*3314T>C)
c.2965T>C (p.Ser989Pro)
c.4822T>C (p.Ser1608Pro)
c.4849T>C (p.Ser1617Pro)
c.4735T>C (p.Ser1579Pro)
c.*62T>C (n.*62T>C)
n.5095T>C
n.5111T>C
c.3079T>C (p.Ser1027Pro)
c.2362T>C (p.Ser788Pro)
11g.68448930T>GCA381618331LRP5c.4708T>G (p.Ser1570Ala)
n.299T>G
c.378T>G
c.*3314T>G (n.*3314T>G)
c.2965T>G (p.Ser989Ala)
c.4822T>G (p.Ser1608Ala)
c.4849T>G (p.Ser1617Ala)
c.4735T>G (p.Ser1579Ala)
c.*62T>G (n.*62T>G)
n.5095T>G
n.5111T>G
c.3079T>G (p.Ser1027Ala)
c.2362T>G (p.Ser788Ala)
11g.68448931C>ACA381618337LRP5c.4709C>A (p.Ser1570Ter)
n.300C>A
c.379C>A
c.*3315C>A (n.*3315C>A)
c.2966C>A (p.Ser989Ter)
c.4823C>A (p.Ser1608Ter)
c.4850C>A (p.Ser1617Ter)
c.4736C>A (p.Ser1579Ter)
c.*63C>A (n.*63C>A)
n.5096C>A
n.5112C>A
c.3080C>A (p.Ser1027Ter)
c.2363C>A (p.Ser788Ter)
11g.68448931C=CA1980656765LRP5c.4709C= (p.Ser1570=)
n.300C=
c.379C=
c.*3315C= (n.*3315C=)
c.2966C= (p.Ser989=)
c.4823C= (p.Ser1608=)
c.4850C= (p.Ser1617=)
c.4736C= (p.Ser1579=)
c.*63C= (n.*63C=)
n.5096C=
n.5112C=
c.3080C= (p.Ser1027=)
c.2363C= (p.Ser788=)
11g.68448931C>GCA381618338LRP5c.4709C>G (p.Ser1570Ter)
n.300C>G
c.379C>G
c.*3315C>G (n.*3315C>G)
c.2966C>G (p.Ser989Ter)
c.4823C>G (p.Ser1608Ter)
c.4850C>G (p.Ser1617Ter)
c.4736C>G (p.Ser1579Ter)
c.*63C>G (n.*63C>G)
n.5096C>G
n.5112C>G
c.3080C>G (p.Ser1027Ter)
c.2363C>G (p.Ser788Ter)
11g.68448931C>TCA6150488LRP5c.4709C>T (p.Ser1570Leu)
n.300C>T
c.379C>T
c.*3315C>T (n.*3315C>T)
c.2966C>T (p.Ser989Leu)
c.4823C>T (p.Ser1608Leu)
c.4850C>T (p.Ser1617Leu)
c.4736C>T (p.Ser1579Leu)
c.*63C>T (n.*63C>T)
n.5096C>T
n.5112C>T
c.3080C>T (p.Ser1027Leu)
c.2363C>T (p.Ser788Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448932A>CCA475462683LRP5c.4710A>C (p.Ser1570=)
n.301A>C
c.380A>C
c.*3316A>C (n.*3316A>C)
c.2967A>C (p.Ser989=)
c.4824A>C (p.Ser1608=)
c.4851A>C (p.Ser1617=)
c.4737A>C (p.Ser1579=)
c.*64A>C (n.*64A>C)
n.5097A>C
n.5113A>C
c.3081A>C (p.Ser1027=)
c.2364A>C (p.Ser788=)
11g.68448932A>GCA475462684LRP5c.4710A>G (p.Ser1570=)
n.301A>G
c.380A>G
c.*3316A>G (n.*3316A>G)
c.2967A>G (p.Ser989=)
c.4824A>G (p.Ser1608=)
c.4851A>G (p.Ser1617=)
c.4737A>G (p.Ser1579=)
c.*64A>G (n.*64A>G)
n.5097A>G
n.5113A>G
c.3081A>G (p.Ser1027=)
c.2364A>G (p.Ser788=)
11g.68448932A>TCA475462685LRP5c.4710A>T (p.Ser1570=)
n.301A>T
c.380A>T
c.*3316A>T (n.*3316A>T)
c.2967A>T (p.Ser989=)
c.4824A>T (p.Ser1608=)
c.4851A>T (p.Ser1617=)
c.4737A>T (p.Ser1579=)
c.*64A>T (n.*64A>T)
n.5097A>T
n.5113A>T
c.3081A>T (p.Ser1027=)
c.2364A>T (p.Ser788=)
11g.68448933G>ACA381618342LRP5c.4711G>A (p.Asp1571Asn)
n.302G>A
c.381G>A
c.*3317G>A (n.*3317G>A)
c.2968G>A (p.Asp990Asn)
c.4825G>A (p.Asp1609Asn)
c.4852G>A (p.Asp1618Asn)
c.4738G>A (p.Asp1580Asn)
c.*65G>A (n.*65G>A)
n.5098G>A
n.5114G>A
c.3082G>A (p.Asp1028Asn)
c.2365G>A (p.Asp789Asn)
11g.68448933G>CCA381618344LRP5c.4711G>C (p.Asp1571His)
n.302G>C
c.381G>C
c.*3317G>C (n.*3317G>C)
c.2968G>C (p.Asp990His)
c.4825G>C (p.Asp1609His)
c.4852G>C (p.Asp1618His)
c.4738G>C (p.Asp1580His)
c.*65G>C (n.*65G>C)
n.5098G>C
n.5114G>C
c.3082G>C (p.Asp1028His)
c.2365G>C (p.Asp789His)
11g.68448933G>TCA381618345LRP5c.4711G>T (p.Asp1571Tyr)
n.302G>T
c.381G>T
c.*3317G>T (n.*3317G>T)
c.2968G>T (p.Asp990Tyr)
c.4825G>T (p.Asp1609Tyr)
c.4852G>T (p.Asp1618Tyr)
c.4738G>T (p.Asp1580Tyr)
c.*65G>T (n.*65G>T)
n.5098G>T
n.5114G>T
c.3082G>T (p.Asp1028Tyr)
c.2365G>T (p.Asp789Tyr)
11g.68448934A=CA1980656767LRP5c.4712A= (p.Asp1571=)
n.303A=
c.382A=
c.*3318A= (n.*3318A=)
c.2969A= (p.Asp990=)
c.4826A= (p.Asp1609=)
c.4853A= (p.Asp1618=)
c.4739A= (p.Asp1580=)
c.*66A= (n.*66A=)
n.5099A=
n.5115A=
c.3083A= (p.Asp1028=)
c.2366A= (p.Asp789=)
11g.68448934A>CCA381618351LRP5c.4712A>C (p.Asp1571Ala)
n.303A>C
c.382A>C
c.*3318A>C (n.*3318A>C)
c.2969A>C (p.Asp990Ala)
c.4826A>C (p.Asp1609Ala)
c.4853A>C (p.Asp1618Ala)
c.4739A>C (p.Asp1580Ala)
c.*66A>C (n.*66A>C)
n.5099A>C
n.5115A>C
c.3083A>C (p.Asp1028Ala)
c.2366A>C (p.Asp789Ala)
 dbSNP gnomAD v4
11g.68448934A>GCA381618348LRP5c.4712A>G (p.Asp1571Gly)
n.303A>G
c.382A>G
c.*3318A>G (n.*3318A>G)
c.2969A>G (p.Asp990Gly)
c.4826A>G (p.Asp1609Gly)
c.4853A>G (p.Asp1618Gly)
c.4739A>G (p.Asp1580Gly)
c.*66A>G (n.*66A>G)
n.5099A>G
n.5115A>G
c.3083A>G (p.Asp1028Gly)
c.2366A>G (p.Asp789Gly)
11g.68448934A>TCA381618350LRP5c.4712A>T (p.Asp1571Val)
n.303A>T
c.382A>T
c.*3318A>T (n.*3318A>T)
c.2969A>T (p.Asp990Val)
c.4826A>T (p.Asp1609Val)
c.4853A>T (p.Asp1618Val)
c.4739A>T (p.Asp1580Val)
c.*66A>T (n.*66A>T)
n.5099A>T
n.5115A>T
c.3083A>T (p.Asp1028Val)
c.2366A>T (p.Asp789Val)
11g.68448935C>ACA6150490LRP5c.4713C>A (p.Asp1571Glu)
n.304C>A
c.383C>A
c.*3319C>A (n.*3319C>A)
c.2970C>A (p.Asp990Glu)
c.4827C>A (p.Asp1609Glu)
c.4854C>A (p.Asp1618Glu)
c.4740C>A (p.Asp1580Glu)
c.*67C>A (n.*67C>A)
n.5100C>A
n.5116C>A
c.3084C>A (p.Asp1028Glu)
c.2367C>A (p.Asp789Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68448935C=CA1980656770LRP5c.4713C= (p.Asp1571=)
n.304C=
c.383C=
c.*3319C= (n.*3319C=)
c.2970C= (p.Asp990=)
c.4827C= (p.Asp1609=)
c.4854C= (p.Asp1618=)
c.4740C= (p.Asp1580=)
c.*67C= (n.*67C=)
n.5100C=
n.5116C=
c.3084C= (p.Asp1028=)
c.2367C= (p.Asp789=)
11g.68448935C>GCA381618355LRP5c.4713C>G (p.Asp1571Glu)
n.304C>G
c.383C>G
c.*3319C>G (n.*3319C>G)
c.2970C>G (p.Asp990Glu)
c.4827C>G (p.Asp1609Glu)
c.4854C>G (p.Asp1618Glu)
c.4740C>G (p.Asp1580Glu)
c.*67C>G (n.*67C>G)
n.5100C>G
n.5116C>G
c.3084C>G (p.Asp1028Glu)
c.2367C>G (p.Asp789Glu)
11g.68448935C>TCA475462692LRP5c.4713C>T (p.Asp1571=)
n.304C>T
c.383C>T
c.*3319C>T (n.*3319C>T)
c.2970C>T (p.Asp990=)
c.4827C>T (p.Asp1609=)
c.4854C>T (p.Asp1618=)
c.4740C>T (p.Asp1580=)
c.*67C>T (n.*67C>T)
n.5100C>T
n.5116C>T
c.3084C>T (p.Asp1028=)
c.2367C>T (p.Asp789=)
 gnomAD v4
11g.68448938dupCA6150489LRP5c.4716dup (p.Tyr1573LeufsTer?)
n.307dup
c.386dup
c.*3322dup (n.*3322dup)
c.2973dup (p.Tyr992LeufsTer?)
c.4830dup (p.Tyr1611LeufsTer?)
c.4857dup (p.Tyr1620LeufsTer?)
c.4743dup (p.Tyr1582LeufsTer?)
c.*70dup (n.*70dup)
n.5103dup
n.5119dup
c.3087dup (p.Tyr1030LeufsTer?)
c.2370dup (p.Tyr791LeufsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448936C>ACA381618358LRP5c.4714C>A (p.Pro1572Thr)
n.305C>A
c.384C>A
c.*3320C>A (n.*3320C>A)
c.2971C>A (p.Pro991Thr)
c.4828C>A (p.Pro1610Thr)
c.4855C>A (p.Pro1619Thr)
c.4741C>A (p.Pro1581Thr)
c.*68C>A (n.*68C>A)
n.5101C>A
n.5117C>A
c.3085C>A (p.Pro1029Thr)
c.2368C>A (p.Pro790Thr)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.68448936C=CA1980656772LRP5c.4714C= (p.Pro1572=)
n.305C=
c.384C=
c.*3320C= (n.*3320C=)
c.2971C= (p.Pro991=)
c.4828C= (p.Pro1610=)
c.4855C= (p.Pro1619=)
c.4741C= (p.Pro1581=)
c.*68C= (n.*68C=)
n.5101C=
n.5117C=
c.3085C= (p.Pro1029=)
c.2368C= (p.Pro790=)
11g.68448936C>GCA381618360LRP5c.4714C>G (p.Pro1572Ala)
n.305C>G
c.384C>G
c.*3320C>G (n.*3320C>G)
c.2971C>G (p.Pro991Ala)
c.4828C>G (p.Pro1610Ala)
c.4855C>G (p.Pro1619Ala)
c.4741C>G (p.Pro1581Ala)
c.*68C>G (n.*68C>G)
n.5101C>G
n.5117C>G
c.3085C>G (p.Pro1029Ala)
c.2368C>G (p.Pro790Ala)
11g.68448936C>TCA6150491LRP5c.4714C>T (p.Pro1572Ser)
n.305C>T
c.384C>T
c.*3320C>T (n.*3320C>T)
c.2971C>T (p.Pro991Ser)
c.4828C>T (p.Pro1610Ser)
c.4855C>T (p.Pro1619Ser)
c.4741C>T (p.Pro1581Ser)
c.*68C>T (n.*68C>T)
n.5101C>T
n.5117C>T
c.3085C>T (p.Pro1029Ser)
c.2368C>T (p.Pro790Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448937C>ACA381618364LRP5c.4715C>A (p.Pro1572His)
n.306C>A
c.385C>A
c.*3321C>A (n.*3321C>A)
c.2972C>A (p.Pro991His)
c.4829C>A (p.Pro1610His)
c.4856C>A (p.Pro1619His)
c.4742C>A (p.Pro1581His)
c.*69C>A (n.*69C>A)
n.5102C>A
n.5118C>A
c.3086C>A (p.Pro1029His)
c.2369C>A (p.Pro790His)
11g.68448937C>GCA381618366LRP5c.4715C>G (p.Pro1572Arg)
n.306C>G
c.385C>G
c.*3321C>G (n.*3321C>G)
c.2972C>G (p.Pro991Arg)
c.4829C>G (p.Pro1610Arg)
c.4856C>G (p.Pro1619Arg)
c.4742C>G (p.Pro1581Arg)
c.*69C>G (n.*69C>G)
n.5102C>G
n.5118C>G
c.3086C>G (p.Pro1029Arg)
c.2369C>G (p.Pro790Arg)
11g.68448937C>TCA381618368LRP5c.4715C>T (p.Pro1572Leu)
n.306C>T
c.385C>T
c.*3321C>T (n.*3321C>T)
c.2972C>T (p.Pro991Leu)
c.4829C>T (p.Pro1610Leu)
c.4856C>T (p.Pro1619Leu)
c.4742C>T (p.Pro1581Leu)
c.*69C>T (n.*69C>T)
n.5102C>T
n.5118C>T
c.3086C>T (p.Pro1029Leu)
c.2369C>T (p.Pro790Leu)
 gnomAD v4
11g.68448938C>ACA475462698LRP5c.4716C>A (p.Pro1572=)
n.307C>A
c.386C>A
c.*3322C>A (n.*3322C>A)
c.2973C>A (p.Pro991=)
c.4830C>A (p.Pro1610=)
c.4857C>A (p.Pro1619=)
c.4743C>A (p.Pro1581=)
c.*70C>A (n.*70C>A)
n.5103C>A
n.5119C>A
c.3087C>A (p.Pro1029=)
c.2370C>A (p.Pro790=)
11g.68448938C=CA1980656776LRP5c.4716C= (p.Pro1572=)
n.307C=
c.386C=
c.*3322C= (n.*3322C=)
c.2973C= (p.Pro991=)
c.4830C= (p.Pro1610=)
c.4857C= (p.Pro1619=)
c.4743C= (p.Pro1581=)
c.*70C= (n.*70C=)
n.5103C=
n.5119C=
c.3087C= (p.Pro1029=)
c.2370C= (p.Pro790=)
11g.68448938C>GCA475462700LRP5c.4716C>G (p.Pro1572=)
n.307C>G
c.386C>G
c.*3322C>G (n.*3322C>G)
c.2973C>G (p.Pro991=)
c.4830C>G (p.Pro1610=)
c.4857C>G (p.Pro1619=)
c.4743C>G (p.Pro1581=)
c.*70C>G (n.*70C>G)
n.5103C>G
n.5119C>G
c.3087C>G (p.Pro1029=)
c.2370C>G (p.Pro790=)
 gnomAD v4
11g.68448938C>TCA475462702LRP5c.4716C>T (p.Pro1572=)
n.307C>T
c.386C>T
c.*3322C>T (n.*3322C>T)
c.2973C>T (p.Pro991=)
c.4830C>T (p.Pro1610=)
c.4857C>T (p.Pro1619=)
c.4743C>T (p.Pro1581=)
c.*70C>T (n.*70C>T)
n.5103C>T
n.5119C>T
c.3087C>T (p.Pro1029=)
c.2370C>T (p.Pro790=)
 dbSNP gnomAD v3 gnomAD v4
11g.68448939T>ACA224260767LRP5c.4717T>A (p.Tyr1573Asn)
n.308T>A
c.387T>A
c.*3323T>A (n.*3323T>A)
c.2974T>A (p.Tyr992Asn)
c.4831T>A (p.Tyr1611Asn)
c.4858T>A (p.Tyr1620Asn)
c.4744T>A (p.Tyr1582Asn)
c.*71T>A (n.*71T>A)
n.5104T>A
n.5120T>A
c.3088T>A (p.Tyr1030Asn)
c.2371T>A (p.Tyr791Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.68448939T>CCA381618371LRP5c.4717T>C (p.Tyr1573His)
n.308T>C
c.387T>C
c.*3323T>C (n.*3323T>C)
c.2974T>C (p.Tyr992His)
c.4831T>C (p.Tyr1611His)
c.4858T>C (p.Tyr1620His)
c.4744T>C (p.Tyr1582His)
c.*71T>C (n.*71T>C)
n.5104T>C
n.5120T>C
c.3088T>C (p.Tyr1030His)
c.2371T>C (p.Tyr791His)
 dbSNP gnomAD v3 gnomAD v4
11g.68448939T>GCA381618373LRP5c.4717T>G (p.Tyr1573Asp)
n.308T>G
c.387T>G
c.*3323T>G (n.*3323T>G)
c.2974T>G (p.Tyr992Asp)
c.4831T>G (p.Tyr1611Asp)
c.4858T>G (p.Tyr1620Asp)
c.4744T>G (p.Tyr1582Asp)
c.*71T>G (n.*71T>G)
n.5104T>G
n.5120T>G
c.3088T>G (p.Tyr1030Asp)
c.2371T>G (p.Tyr791Asp)
11g.68448939T=CA1980656778LRP5c.4717T= (p.Tyr1573=)
n.308T=
c.387T=
c.*3323T= (n.*3323T=)
c.2974T= (p.Tyr992=)
c.4831T= (p.Tyr1611=)
c.4858T= (p.Tyr1620=)
c.4744T= (p.Tyr1582=)
c.*71T= (n.*71T=)
n.5104T=
n.5120T=
c.3088T= (p.Tyr1030=)
c.2371T= (p.Tyr791=)
11g.68448940A>CCA381618375LRP5c.4718A>C (p.Tyr1573Ser)
n.309A>C
c.388A>C
c.*3324A>C (n.*3324A>C)
c.2975A>C (p.Tyr992Ser)
c.4832A>C (p.Tyr1611Ser)
c.4859A>C (p.Tyr1620Ser)
c.4745A>C (p.Tyr1582Ser)
c.*72A>C (n.*72A>C)
n.5105A>C
n.5121A>C
c.3089A>C (p.Tyr1030Ser)
c.2372A>C (p.Tyr791Ser)
11g.68448940A>GCA381618378LRP5c.4718A>G (p.Tyr1573Cys)
n.309A>G
c.388A>G
c.*3324A>G (n.*3324A>G)
c.2975A>G (p.Tyr992Cys)
c.4832A>G (p.Tyr1611Cys)
c.4859A>G (p.Tyr1620Cys)
c.4745A>G (p.Tyr1582Cys)
c.*72A>G (n.*72A>G)
n.5105A>G
n.5121A>G
c.3089A>G (p.Tyr1030Cys)
c.2372A>G (p.Tyr791Cys)
11g.68448940A>TCA381618377LRP5c.4718A>T (p.Tyr1573Phe)
n.309A>T
c.388A>T
c.*3324A>T (n.*3324A>T)
c.2975A>T (p.Tyr992Phe)
c.4832A>T (p.Tyr1611Phe)
c.4859A>T (p.Tyr1620Phe)
c.4745A>T (p.Tyr1582Phe)
c.*72A>T (n.*72A>T)
n.5105A>T
n.5121A>T
c.3089A>T (p.Tyr1030Phe)
c.2372A>T (p.Tyr791Phe)
11g.68448941T>ACA381618380LRP5c.4719T>A (p.Tyr1573Ter)
n.310T>A
c.389T>A
c.*3325T>A (n.*3325T>A)
c.2976T>A (p.Tyr992Ter)
c.4833T>A (p.Tyr1611Ter)
c.4860T>A (p.Tyr1620Ter)
c.4746T>A (p.Tyr1582Ter)
c.*73T>A (n.*73T>A)
n.5106T>A
n.5122T>A
c.3090T>A (p.Tyr1030Ter)
c.2373T>A (p.Tyr791Ter)
11g.68448941T>CCA475462709LRP5c.4719T>C (p.Tyr1573=)
n.310T>C
c.389T>C
c.*3325T>C (n.*3325T>C)
c.2976T>C (p.Tyr992=)
c.4833T>C (p.Tyr1611=)
c.4860T>C (p.Tyr1620=)
c.4746T>C (p.Tyr1582=)
c.*73T>C (n.*73T>C)
n.5106T>C
n.5122T>C
c.3090T>C (p.Tyr1030=)
c.2373T>C (p.Tyr791=)
 dbSNP gnomAD v2 gnomAD v4
11g.68448941T>GCA381618382LRP5c.4719T>G (p.Tyr1573Ter)
n.310T>G
c.389T>G
c.*3325T>G (n.*3325T>G)
c.2976T>G (p.Tyr992Ter)
c.4833T>G (p.Tyr1611Ter)
c.4860T>G (p.Tyr1620Ter)
c.4746T>G (p.Tyr1582Ter)
c.*73T>G (n.*73T>G)
n.5106T>G
n.5122T>G
c.3090T>G (p.Tyr1030Ter)
c.2373T>G (p.Tyr791Ter)
11g.68448941T=CA1980656779LRP5c.4719T= (p.Tyr1573=)
n.310T=
c.389T=
c.*3325T= (n.*3325T=)
c.2976T= (p.Tyr992=)
c.4833T= (p.Tyr1611=)
c.4860T= (p.Tyr1620=)
c.4746T= (p.Tyr1582=)
c.*73T= (n.*73T=)
n.5106T=
n.5122T=
c.3090T= (p.Tyr1030=)
c.2373T= (p.Tyr791=)
11g.68448942C>ACA381618385LRP5c.4720C>A (p.Pro1574Thr)
n.311C>A
c.390C>A
c.*3326C>A (n.*3326C>A)
c.2977C>A (p.Pro993Thr)
c.4834C>A (p.Pro1612Thr)
c.4861C>A (p.Pro1621Thr)
c.4747C>A (p.Pro1583Thr)
c.*74C>A (n.*74C>A)
n.5107C>A
n.5123C>A
c.3091C>A (p.Pro1031Thr)
c.2374C>A (p.Pro792Thr)
 dbSNP
11g.68448942C=CA1980656781LRP5c.4720C= (p.Pro1574=)
n.311C=
c.390C=
c.*3326C= (n.*3326C=)
c.2977C= (p.Pro993=)
c.4834C= (p.Pro1612=)
c.4861C= (p.Pro1621=)
c.4747C= (p.Pro1583=)
c.*74C= (n.*74C=)
n.5107C=
n.5123C=
c.3091C= (p.Pro1031=)
c.2374C= (p.Pro792=)
11g.68448942C>GCA6150492LRP5c.4720C>G (p.Pro1574Ala)
n.311C>G
c.390C>G
c.*3326C>G (n.*3326C>G)
c.2977C>G (p.Pro993Ala)
c.4834C>G (p.Pro1612Ala)
c.4861C>G (p.Pro1621Ala)
c.4747C>G (p.Pro1583Ala)
c.*74C>G (n.*74C>G)
n.5107C>G
n.5123C>G
c.3091C>G (p.Pro1031Ala)
c.2374C>G (p.Pro792Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448942C>TCA381618387LRP5c.4720C>T (p.Pro1574Ser)
n.311C>T
c.390C>T
c.*3326C>T (n.*3326C>T)
c.2977C>T (p.Pro993Ser)
c.4834C>T (p.Pro1612Ser)
c.4861C>T (p.Pro1621Ser)
c.4747C>T (p.Pro1583Ser)
c.*74C>T (n.*74C>T)
n.5107C>T
n.5123C>T
c.3091C>T (p.Pro1031Ser)
c.2374C>T (p.Pro792Ser)
 gnomAD v4
11g.68448943_68448944insCCCCCCCCCA2724555025LRP5c.4721_4722insCCCCCCCC (p.Pro1577HisfsTer?)
n.312_313insCCCCCCCC
c.391_392insCCCCCCCC
c.*3327_*3328insCCCCCCCC (n.*3327_*3328insCCCCCCCC)
c.2978_2979insCCCCCCCC (p.Pro996HisfsTer?)
c.4835_4836insCCCCCCCC (p.Pro1615HisfsTer?)
c.4862_4863insCCCCCCCC (p.Pro1624HisfsTer?)
c.4748_4749insCCCCCCCC (p.Pro1586HisfsTer?)
c.*75_*76insCCCCCCCC (n.*75_*76insCCCCCCCC)
n.5108_5109insCCCCCCCC
n.5124_5125insCCCCCCCC
c.3092_3093insCCCCCCCC (p.Pro1034HisfsTer?)
c.2375_2376insCCCCCCCC (p.Pro795HisfsTer?)
 dbSNP
11g.68448943C>ACA381618394LRP5c.4721C>A (p.Pro1574Gln)
n.312C>A
c.391C>A
c.*3327C>A (n.*3327C>A)
c.2978C>A (p.Pro993Gln)
c.4835C>A (p.Pro1612Gln)
c.4862C>A (p.Pro1621Gln)
c.4748C>A (p.Pro1583Gln)
c.*75C>A (n.*75C>A)
n.5108C>A
n.5124C>A
c.3092C>A (p.Pro1031Gln)
c.2375C>A (p.Pro792Gln)
11g.68448943C>GCA381618391LRP5c.4721C>G (p.Pro1574Arg)
n.312C>G
c.391C>G
c.*3327C>G (n.*3327C>G)
c.2978C>G (p.Pro993Arg)
c.4835C>G (p.Pro1612Arg)
c.4862C>G (p.Pro1621Arg)
c.4748C>G (p.Pro1583Arg)
c.*75C>G (n.*75C>G)
n.5108C>G
n.5124C>G
c.3092C>G (p.Pro1031Arg)
c.2375C>G (p.Pro792Arg)
11g.68448943C>TCA381618390LRP5c.4721C>T (p.Pro1574Leu)
n.312C>T
c.391C>T
c.*3327C>T (n.*3327C>T)
c.2978C>T (p.Pro993Leu)
c.4835C>T (p.Pro1612Leu)
c.4862C>T (p.Pro1621Leu)
c.4748C>T (p.Pro1583Leu)
c.*75C>T (n.*75C>T)
n.5108C>T
n.5124C>T
c.3092C>T (p.Pro1031Leu)
c.2375C>T (p.Pro792Leu)
11g.68448944A=CA1980656783LRP5c.4722A= (p.Pro1574=)
n.313A=
c.392A=
c.*3328A= (n.*3328A=)
c.2979A= (p.Pro993=)
c.4836A= (p.Pro1612=)
c.4863A= (p.Pro1621=)
c.4749A= (p.Pro1583=)
c.*76A= (n.*76A=)
n.5109A=
n.5125A=
c.3093A= (p.Pro1031=)
c.2376A= (p.Pro792=)
11g.68448944A>CCA475462719LRP5c.4722A>C (p.Pro1574=)
n.313A>C
c.392A>C
c.*3328A>C (n.*3328A>C)
c.2979A>C (p.Pro993=)
c.4836A>C (p.Pro1612=)
c.4863A>C (p.Pro1621=)
c.4749A>C (p.Pro1583=)
c.*76A>C (n.*76A>C)
n.5109A>C
n.5125A>C
c.3093A>C (p.Pro1031=)
c.2376A>C (p.Pro792=)
 dbSNP
11g.68448944A>GCA475462716LRP5c.4722A>G (p.Pro1574=)
n.313A>G
c.392A>G
c.*3328A>G (n.*3328A>G)
c.2979A>G (p.Pro993=)
c.4836A>G (p.Pro1612=)
c.4863A>G (p.Pro1621=)
c.4749A>G (p.Pro1583=)
c.*76A>G (n.*76A>G)
n.5109A>G
n.5125A>G
c.3093A>G (p.Pro1031=)
c.2376A>G (p.Pro792=)
 dbSNP
11g.68448944A>TCA475462717LRP5c.4722A>T (p.Pro1574=)
n.313A>T
c.392A>T
c.*3328A>T (n.*3328A>T)
c.2979A>T (p.Pro993=)
c.4836A>T (p.Pro1612=)
c.4863A>T (p.Pro1621=)
c.4749A>T (p.Pro1583=)
c.*76A>T (n.*76A>T)
n.5109A>T
n.5125A>T
c.3093A>T (p.Pro1031=)
c.2376A>T (p.Pro792=)
11g.68448945C>ACA381618396LRP5c.4723C>A (p.Pro1575Thr)
n.314C>A
c.393C>A
c.*3329C>A (n.*3329C>A)
c.2980C>A (p.Pro994Thr)
c.4837C>A (p.Pro1613Thr)
c.4864C>A (p.Pro1622Thr)
c.4750C>A (p.Pro1584Thr)
c.*77C>A (n.*77C>A)
n.5110C>A
n.5126C>A
c.3094C>A (p.Pro1032Thr)
c.2377C>A (p.Pro793Thr)
11g.68448945C>GCA381618398LRP5c.4723C>G (p.Pro1575Ala)
n.314C>G
c.393C>G
c.*3329C>G (n.*3329C>G)
c.2980C>G (p.Pro994Ala)
c.4837C>G (p.Pro1613Ala)
c.4864C>G (p.Pro1622Ala)
c.4750C>G (p.Pro1584Ala)
c.*77C>G (n.*77C>G)
n.5110C>G
n.5126C>G
c.3094C>G (p.Pro1032Ala)
c.2377C>G (p.Pro793Ala)
11g.68448945C>TCA381618400LRP5c.4723C>T (p.Pro1575Ser)
n.314C>T
c.393C>T
c.*3329C>T (n.*3329C>T)
c.2980C>T (p.Pro994Ser)
c.4837C>T (p.Pro1613Ser)
c.4864C>T (p.Pro1622Ser)
c.4750C>T (p.Pro1584Ser)
c.*77C>T (n.*77C>T)
n.5110C>T
n.5126C>T
c.3094C>T (p.Pro1032Ser)
c.2377C>T (p.Pro793Ser)
 ClinVar
11g.68448949_68448950insCCCCCCCCCA1139534857LRP5c.4727_4728insCCCCCCCC (p.Thr1578ProfsTer?)
n.318_319insCCCCCCCC
c.397_398insCCCCCCCC
c.*3333_*3334insCCCCCCCC (n.*3333_*3334insCCCCCCCC)
c.2984_2985insCCCCCCCC (p.Thr997ProfsTer?)
c.4841_4842insCCCCCCCC (p.Thr1616ProfsTer?)
c.4868_4869insCCCCCCCC (p.Thr1625ProfsTer?)
c.4754_4755insCCCCCCCC (p.Thr1587ProfsTer?)
c.*81_*82insCCCCCCCC (n.*81_*82insCCCCCCCC)
n.5114_5115insCCCCCCCC
n.5130_5131insCCCCCCCC
c.3098_3099insCCCCCCCC (p.Thr1035ProfsTer?)
c.2381_2382insCCCCCCCC (p.Thr796ProfsTer?)
 dbSNP
11g.68448949_68448950insCCCCCCCCCCCCCCA2573050823LRP5c.4727_4728insCCCCCCCCCCCCC (p.Thr1578ProfsTer?)
n.318_319insCCCCCCCCCCCCC
c.397_398insCCCCCCCCCCCCC
c.*3333_*3334insCCCCCCCCCCCCC (n.*3333_*3334insCCCCCCCCCCCCC)
c.2984_2985insCCCCCCCCCCCCC (p.Thr997ProfsTer?)
c.4841_4842insCCCCCCCCCCCCC (p.Thr1616ProfsTer?)
c.4868_4869insCCCCCCCCCCCCC (p.Thr1625ProfsTer?)
c.4754_4755insCCCCCCCCCCCCC (p.Thr1587ProfsTer?)
c.*81_*82insCCCCCCCCCCCCC (n.*81_*82insCCCCCCCCCCCCC)
n.5114_5115insCCCCCCCCCCCCC
n.5130_5131insCCCCCCCCCCCCC
c.3098_3099insCCCCCCCCCCCCC (p.Thr1035ProfsTer?)
c.2381_2382insCCCCCCCCCCCCC (p.Thr796ProfsTer?)
11g.68448949dupCA2614718234LRP5c.4727dup (p.Pro1577ThrfsTer?)
n.318dup
c.397dup
c.*3333dup (n.*3333dup)
c.2984dup (p.Pro996ThrfsTer?)
c.4841dup (p.Pro1615ThrfsTer?)
c.4868dup (p.Pro1624ThrfsTer?)
c.4754dup (p.Pro1586ThrfsTer?)
c.*81dup (n.*81dup)
n.5114dup
n.5130dup
c.3098dup (p.Pro1034ThrfsTer?)
c.2381dup (p.Pro795ThrfsTer?)
 gnomAD v4
11g.68448949delCA2614718236LRP5c.4727del (p.Pro1576HisfsTer?)
n.318del
c.397del
c.*3333del (n.*3333del)
c.2984del (p.Pro995HisfsTer?)
c.4841del (p.Pro1614HisfsTer?)
c.4868del (p.Pro1623HisfsTer?)
c.4754del (p.Pro1585HisfsTer?)
c.*81del (n.*81del)
n.5114del
n.5130del
c.3098del (p.Pro1033HisfsTer?)
c.2381del (p.Pro794HisfsTer?)
 gnomAD v4
11g.68448946C>ACA381618402LRP5c.4724C>A (p.Pro1575His)
n.315C>A
c.394C>A
c.*3330C>A (n.*3330C>A)
c.2981C>A (p.Pro994His)
c.4838C>A (p.Pro1613His)
c.4865C>A (p.Pro1622His)
c.4751C>A (p.Pro1584His)
c.*78C>A (n.*78C>A)
n.5111C>A
n.5127C>A
c.3095C>A (p.Pro1032His)
c.2378C>A (p.Pro793His)
 dbSNP gnomAD v2 gnomAD v4
11g.68448946C=CA1980656789LRP5c.4724C= (p.Pro1575=)
n.315C=
c.394C=
c.*3330C= (n.*3330C=)
c.2981C= (p.Pro994=)
c.4838C= (p.Pro1613=)
c.4865C= (p.Pro1622=)
c.4751C= (p.Pro1584=)
c.*78C= (n.*78C=)
n.5111C=
n.5127C=
c.3095C= (p.Pro1032=)
c.2378C= (p.Pro793=)
11g.68448946C>GCA381618404LRP5c.4724C>G (p.Pro1575Arg)
n.315C>G
c.394C>G
c.*3330C>G (n.*3330C>G)
c.2981C>G (p.Pro994Arg)
c.4838C>G (p.Pro1613Arg)
c.4865C>G (p.Pro1622Arg)
c.4751C>G (p.Pro1584Arg)
c.*78C>G (n.*78C>G)
n.5111C>G
n.5127C>G
c.3095C>G (p.Pro1032Arg)
c.2378C>G (p.Pro793Arg)
11g.68448946C>TCA381618406LRP5c.4724C>T (p.Pro1575Leu)
n.315C>T
c.394C>T
c.*3330C>T (n.*3330C>T)
c.2981C>T (p.Pro994Leu)
c.4838C>T (p.Pro1613Leu)
c.4865C>T (p.Pro1622Leu)
c.4751C>T (p.Pro1584Leu)
c.*78C>T (n.*78C>T)
n.5111C>T
n.5127C>T
c.3095C>T (p.Pro1032Leu)
c.2378C>T (p.Pro793Leu)
 gnomAD v4
11g.68448947_68448979dupCA2614718243LRP5c.4725_4757dup (p.Ala1586_Glu1587insProProThrProHisSerGlnTyrLeuSerAla)
n.316_348dup
c.395_427dup
c.*3331_*3363dup (n.*3331_*3363dup)
c.2982_3014dup (p.Ala1005_Glu1006insProProThrProHisSerGlnTyrLeuSerAla)
c.4839_4871dup (p.Ala1624_Glu1625insProProThrProHisSerGlnTyrLeuSerAla)
c.4866_4898dup (p.Ala1633_Glu1634insProProThrProHisSerGlnTyrLeuSerAla)
c.4752_4784dup (p.Ala1595_Glu1596insProProThrProHisSerGlnTyrLeuSerAla)
c.*79_*111dup (n.*79_*111dup)
n.5112_5144dup
n.5128_5160dup
c.3096_3128dup (p.Ala1043_Glu1044insProProThrProHisSerGlnTyrLeuSerAla)
c.2379_2411dup (p.Ala804_Glu805insProProThrProHisSerGlnTyrLeuSerAla)
 gnomAD v4
11g.68448947C>ACA475462726LRP5c.4725C>A (p.Pro1575=)
n.316C>A
c.395C>A
c.*3331C>A (n.*3331C>A)
c.2982C>A (p.Pro994=)
c.4839C>A (p.Pro1613=)
c.4866C>A (p.Pro1622=)
c.4752C>A (p.Pro1584=)
c.*79C>A (n.*79C>A)
n.5112C>A
n.5128C>A
c.3096C>A (p.Pro1032=)
c.2379C>A (p.Pro793=)
11g.68448947C>GCA475462727LRP5c.4725C>G (p.Pro1575=)
n.316C>G
c.395C>G
c.*3331C>G (n.*3331C>G)
c.2982C>G (p.Pro994=)
c.4839C>G (p.Pro1613=)
c.4866C>G (p.Pro1622=)
c.4752C>G (p.Pro1584=)
c.*79C>G (n.*79C>G)
n.5112C>G
n.5128C>G
c.3096C>G (p.Pro1032=)
c.2379C>G (p.Pro793=)
11g.68448947C>TCA475462724LRP5c.4725C>T (p.Pro1575=)
n.316C>T
c.395C>T
c.*3331C>T (n.*3331C>T)
c.2982C>T (p.Pro994=)
c.4839C>T (p.Pro1613=)
c.4866C>T (p.Pro1622=)
c.4752C>T (p.Pro1584=)
c.*79C>T (n.*79C>T)
n.5112C>T
n.5128C>T
c.3096C>T (p.Pro1032=)
c.2379C>T (p.Pro793=)
 COSMIC
11g.68448948C>ACA381618411LRP5c.4726C>A (p.Pro1576Thr)
n.317C>A
c.396C>A
c.*3332C>A (n.*3332C>A)
c.2983C>A (p.Pro995Thr)
c.4840C>A (p.Pro1614Thr)
c.4867C>A (p.Pro1623Thr)
c.4753C>A (p.Pro1585Thr)
c.*80C>A (n.*80C>A)
n.5113C>A
n.5129C>A
c.3097C>A (p.Pro1033Thr)
c.2380C>A (p.Pro794Thr)
11g.68448948C>GCA381618407LRP5c.4726C>G (p.Pro1576Ala)
n.317C>G
c.396C>G
c.*3332C>G (n.*3332C>G)
c.2983C>G (p.Pro995Ala)
c.4840C>G (p.Pro1614Ala)
c.4867C>G (p.Pro1623Ala)
c.4753C>G (p.Pro1585Ala)
c.*80C>G (n.*80C>G)
n.5113C>G
n.5129C>G
c.3097C>G (p.Pro1033Ala)
c.2380C>G (p.Pro794Ala)
11g.68448948C>TCA381618409LRP5c.4726C>T (p.Pro1576Ser)
n.317C>T
c.396C>T
c.*3332C>T (n.*3332C>T)
c.2983C>T (p.Pro995Ser)
c.4840C>T (p.Pro1614Ser)
c.4867C>T (p.Pro1623Ser)
c.4753C>T (p.Pro1585Ser)
c.*80C>T (n.*80C>T)
n.5113C>T
n.5129C>T
c.3097C>T (p.Pro1033Ser)
c.2380C>T (p.Pro794Ser)
 COSMIC
11g.68448949C>ACA381618413LRP5c.4727C>A (p.Pro1576Gln)
n.318C>A
c.397C>A
c.*3333C>A (n.*3333C>A)
c.2984C>A (p.Pro995Gln)
c.4841C>A (p.Pro1614Gln)
c.4868C>A (p.Pro1623Gln)
c.4754C>A (p.Pro1585Gln)
c.*81C>A (n.*81C>A)
n.5114C>A
n.5130C>A
c.3098C>A (p.Pro1033Gln)
c.2381C>A (p.Pro794Gln)
 dbSNP gnomAD v2 gnomAD v4
11g.68448949C=CA1980656791LRP5c.4727C= (p.Pro1576=)
n.318C=
c.397C=
c.*3333C= (n.*3333C=)
c.2984C= (p.Pro995=)
c.4841C= (p.Pro1614=)
c.4868C= (p.Pro1623=)
c.4754C= (p.Pro1585=)
c.*81C= (n.*81C=)
n.5114C=
n.5130C=
c.3098C= (p.Pro1033=)
c.2381C= (p.Pro794=)
11g.68448949C>GCA381618416LRP5c.4727C>G (p.Pro1576Arg)
n.318C>G
c.397C>G
c.*3333C>G (n.*3333C>G)
c.2984C>G (p.Pro995Arg)
c.4841C>G (p.Pro1614Arg)
c.4868C>G (p.Pro1623Arg)
c.4754C>G (p.Pro1585Arg)
c.*81C>G (n.*81C>G)
n.5114C>G
n.5130C>G
c.3098C>G (p.Pro1033Arg)
c.2381C>G (p.Pro794Arg)
 ClinVar dbSNP gnomAD v4
11g.68448949C>TCA381618418LRP5c.4727C>T (p.Pro1576Leu)
n.318C>T
c.397C>T
c.*3333C>T (n.*3333C>T)
c.2984C>T (p.Pro995Leu)
c.4841C>T (p.Pro1614Leu)
c.4868C>T (p.Pro1623Leu)
c.4754C>T (p.Pro1585Leu)
c.*81C>T (n.*81C>T)
n.5114C>T
n.5130C>T
c.3098C>T (p.Pro1033Leu)
c.2381C>T (p.Pro794Leu)
11g.68448950A=CA1980656793LRP5c.4728A= (p.Pro1576=)
n.319A=
c.398A=
c.*3334A= (n.*3334A=)
c.2985A= (p.Pro995=)
c.4842A= (p.Pro1614=)
c.4869A= (p.Pro1623=)
c.4755A= (p.Pro1585=)
c.*82A= (n.*82A=)
n.5115A=
n.5131A=
c.3099A= (p.Pro1033=)
c.2382A= (p.Pro794=)
11g.68448950A>CCA224260772LRP5c.4728A>C (p.Pro1576=)
n.319A>C
c.398A>C
c.*3334A>C (n.*3334A>C)
c.2985A>C (p.Pro995=)
c.4842A>C (p.Pro1614=)
c.4869A>C (p.Pro1623=)
c.4755A>C (p.Pro1585=)
c.*82A>C (n.*82A>C)
n.5115A>C
n.5131A>C
c.3099A>C (p.Pro1033=)
c.2382A>C (p.Pro794=)
 ClinVar dbSNP gnomAD v4
11g.68448950A>GCA475462732LRP5c.4728A>G (p.Pro1576=)
n.319A>G
c.398A>G
c.*3334A>G (n.*3334A>G)
c.2985A>G (p.Pro995=)
c.4842A>G (p.Pro1614=)
c.4869A>G (p.Pro1623=)
c.4755A>G (p.Pro1585=)
c.*82A>G (n.*82A>G)
n.5115A>G
n.5131A>G
c.3099A>G (p.Pro1033=)
c.2382A>G (p.Pro794=)
11g.68448950A>TCA475462730LRP5c.4728A>T (p.Pro1576=)
n.319A>T
c.398A>T
c.*3334A>T (n.*3334A>T)
c.2985A>T (p.Pro995=)
c.4842A>T (p.Pro1614=)
c.4869A>T (p.Pro1623=)
c.4755A>T (p.Pro1585=)
c.*82A>T (n.*82A>T)
n.5115A>T
n.5131A>T
c.3099A>T (p.Pro1033=)
c.2382A>T (p.Pro794=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.68448951C>ACA381618422LRP5c.4729C>A (p.Pro1577Thr)
n.320C>A
c.399C>A
c.*3335C>A (n.*3335C>A)
c.2986C>A (p.Pro996Thr)
c.4843C>A (p.Pro1615Thr)
c.4870C>A (p.Pro1624Thr)
c.4756C>A (p.Pro1586Thr)
c.*83C>A (n.*83C>A)
n.5116C>A
n.5132C>A
c.3100C>A (p.Pro1034Thr)
c.2383C>A (p.Pro795Thr)
 gnomAD v4
11g.68448951C=CA1980656799LRP5c.4729C= (p.Pro1577=)
n.320C=
c.399C=
c.*3335C= (n.*3335C=)
c.2986C= (p.Pro996=)
c.4843C= (p.Pro1615=)
c.4870C= (p.Pro1624=)
c.4756C= (p.Pro1586=)
c.*83C= (n.*83C=)
n.5116C=
n.5132C=
c.3100C= (p.Pro1034=)
c.2383C= (p.Pro795=)
11g.68448951C>GCA6150493LRP5c.4729C>G (p.Pro1577Ala)
n.320C>G
c.399C>G
c.*3335C>G (n.*3335C>G)
c.2986C>G (p.Pro996Ala)
c.4843C>G (p.Pro1615Ala)
c.4870C>G (p.Pro1624Ala)
c.4756C>G (p.Pro1586Ala)
c.*83C>G (n.*83C>G)
n.5116C>G
n.5132C>G
c.3100C>G (p.Pro1034Ala)
c.2383C>G (p.Pro795Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68448951C>TCA381618423LRP5c.4729C>T (p.Pro1577Ser)
n.320C>T
c.399C>T
c.*3335C>T (n.*3335C>T)
c.2986C>T (p.Pro996Ser)
c.4843C>T (p.Pro1615Ser)
c.4870C>T (p.Pro1624Ser)
c.4756C>T (p.Pro1586Ser)
c.*83C>T (n.*83C>T)
n.5116C>T
n.5132C>T
c.3100C>T (p.Pro1034Ser)
c.2383C>T (p.Pro795Ser)
 COSMIC
11g.68448953_68448954insCCACCCCACCCCCACCCCCA2792543546LRP5c.4731_4732insCCACCCCACCCCCACCCC (p.Pro1577_Thr1578insProProHisProHisPro)
n.322_323insCCACCCCACCCCCACCCC
c.401_402insCCACCCCACCCCCACCCC
c.*3337_*3338insCCACCCCACCCCCACCCC (n.*3337_*3338insCCACCCCACCCCCACCCC)
c.2988_2989insCCACCCCACCCCCACCCC (p.Pro996_Thr997insProProHisProHisPro)
c.4845_4846insCCACCCCACCCCCACCCC (p.Pro1615_Thr1616insProProHisProHisPro)
c.4872_4873insCCACCCCACCCCCACCCC (p.Pro1624_Thr1625insProProHisProHisPro)
c.4758_4759insCCACCCCACCCCCACCCC (p.Pro1586_Thr1587insProProHisProHisPro)
c.*85_*86insCCACCCCACCCCCACCCC (n.*85_*86insCCACCCCACCCCCACCCC)
n.5118_5119insCCACCCCACCCCCACCCC
n.5134_5135insCCACCCCACCCCCACCCC
c.3102_3103insCCACCCCACCCCCACCCC (p.Pro1034_Thr1035insProProHisProHisPro)
c.2385_2386insCCACCCCACCCCCACCCC (p.Pro795_Thr796insProProHisProHisPro)
11g.68448953dupCA2574901401LRP5c.4731dup (p.Thr1578HisfsTer?)
n.322dup
c.401dup
c.*3337dup (n.*3337dup)
c.2988dup (p.Thr997HisfsTer?)
c.4845dup (p.Thr1616HisfsTer?)
c.4872dup (p.Thr1625HisfsTer?)
c.4758dup (p.Thr1587HisfsTer?)
c.*85dup (n.*85dup)
n.5118dup
n.5134dup
c.3102dup (p.Thr1035HisfsTer?)
c.2385dup (p.Thr796HisfsTer?)
11g.68448952C>ACA381618425LRP5c.4730C>A (p.Pro1577His)
n.321C>A
c.400C>A
c.*3336C>A (n.*3336C>A)
c.2987C>A (p.Pro996His)
c.4844C>A (p.Pro1615His)
c.4871C>A (p.Pro1624His)
c.4757C>A (p.Pro1586His)
c.*84C>A (n.*84C>A)
n.5117C>A
n.5133C>A
c.3101C>A (p.Pro1034His)
c.2384C>A (p.Pro795His)
11g.68448952C>GCA381618427LRP5c.4730C>G (p.Pro1577Arg)
n.321C>G
c.400C>G
c.*3336C>G (n.*3336C>G)
c.2987C>G (p.Pro996Arg)
c.4844C>G (p.Pro1615Arg)
c.4871C>G (p.Pro1624Arg)
c.4757C>G (p.Pro1586Arg)
c.*84C>G (n.*84C>G)
n.5117C>G
n.5133C>G
c.3101C>G (p.Pro1034Arg)
c.2384C>G (p.Pro795Arg)
11g.68448952C>TCA381618429LRP5c.4730C>T (p.Pro1577Leu)
n.321C>T
c.400C>T
c.*3336C>T (n.*3336C>T)
c.2987C>T (p.Pro996Leu)
c.4844C>T (p.Pro1615Leu)
c.4871C>T (p.Pro1624Leu)
c.4757C>T (p.Pro1586Leu)
c.*84C>T (n.*84C>T)
n.5117C>T
n.5133C>T
c.3101C>T (p.Pro1034Leu)
c.2384C>T (p.Pro795Leu)
11g.68448953C>ACA475462740LRP5c.4731C>A (p.Pro1577=)
n.322C>A
c.401C>A
c.*3337C>A (n.*3337C>A)
c.2988C>A (p.Pro996=)
c.4845C>A (p.Pro1615=)
c.4872C>A (p.Pro1624=)
c.4758C>A (p.Pro1586=)
c.*85C>A (n.*85C>A)
n.5118C>A
n.5134C>A
c.3102C>A (p.Pro1034=)
c.2385C>A (p.Pro795=)
11g.68448953C=CA1980656801LRP5c.4731C= (p.Pro1577=)
n.322C=
c.401C=
c.*3337C= (n.*3337C=)
c.2988C= (p.Pro996=)
c.4845C= (p.Pro1615=)
c.4872C= (p.Pro1624=)
c.4758C= (p.Pro1586=)
c.*85C= (n.*85C=)
n.5118C=
n.5134C=
c.3102C= (p.Pro1034=)
c.2385C= (p.Pro795=)
11g.68448953C>GCA475462737LRP5c.4731C>G (p.Pro1577=)
n.322C>G
c.401C>G
c.*3337C>G (n.*3337C>G)
c.2988C>G (p.Pro996=)
c.4845C>G (p.Pro1615=)
c.4872C>G (p.Pro1624=)
c.4758C>G (p.Pro1586=)
c.*85C>G (n.*85C>G)
n.5118C>G
n.5134C>G
c.3102C>G (p.Pro1034=)
c.2385C>G (p.Pro795=)
11g.68448953C>TCA475462739LRP5c.4731C>T (p.Pro1577=)
n.322C>T
c.401C>T
c.*3337C>T (n.*3337C>T)
c.2988C>T (p.Pro996=)
c.4845C>T (p.Pro1615=)
c.4872C>T (p.Pro1624=)
c.4758C>T (p.Pro1586=)
c.*85C>T (n.*85C>T)
n.5118C>T
n.5134C>T
c.3102C>T (p.Pro1034=)
c.2385C>T (p.Pro795=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68448953_68448963delCA2695214937LRP5c.4731_4741del (p.Thr1578ProfsTer?)
n.322_332del
c.401_411del
c.*3337_*3347del (n.*3337_*3347del)
c.2988_2998del (p.Thr997ProfsTer?)
c.4845_4855del (p.Thr1616ProfsTer?)
c.4872_4882del (p.Thr1625ProfsTer?)
c.4758_4768del (p.Thr1587ProfsTer?)
c.*85_*95del (n.*85_*95del)
n.5118_5128del
n.5134_5144del
c.3102_3112del (p.Thr1035ProfsTer?)
c.2385_2395del (p.Thr796ProfsTer?)
11g.68448954A>CCA381618431LRP5c.4732A>C (p.Thr1578Pro)
n.323A>C
c.402A>C
c.*3338A>C (n.*3338A>C)
c.2989A>C (p.Thr997Pro)
c.4846A>C (p.Thr1616Pro)
c.4873A>C (p.Thr1625Pro)
c.4759A>C (p.Thr1587Pro)
c.*86A>C (n.*86A>C)
n.5119A>C
n.5135A>C
c.3103A>C (p.Thr1035Pro)
c.2386A>C (p.Thr796Pro)
 dbSNP
11g.68448954A>GCA381618433LRP5c.4732A>G (p.Thr1578Ala)
n.323A>G
c.402A>G
c.*3338A>G (n.*3338A>G)
c.2989A>G (p.Thr997Ala)
c.4846A>G (p.Thr1616Ala)
c.4873A>G (p.Thr1625Ala)
c.4759A>G (p.Thr1587Ala)
c.*86A>G (n.*86A>G)
n.5119A>G
n.5135A>G
c.3103A>G (p.Thr1035Ala)
c.2386A>G (p.Thr796Ala)
 gnomAD v4
11g.68448954A>TCA381618435LRP5c.4732A>T (p.Thr1578Ser)
n.323A>T
c.402A>T
c.*3338A>T (n.*3338A>T)
c.2989A>T (p.Thr997Ser)
c.4846A>T (p.Thr1616Ser)
c.4873A>T (p.Thr1625Ser)
c.4759A>T (p.Thr1587Ser)
c.*86A>T (n.*86A>T)
n.5119A>T
n.5135A>T
c.3103A>T (p.Thr1035Ser)
c.2386A>T (p.Thr796Ser)
11g.68448954_68448956delCA2573130417LRP5c.4732_4734del (p.Thr1578del)
n.323_325del
c.402_404del
c.*3338_*3340del (n.*3338_*3340del)
c.2989_2991del (p.Thr997del)
c.4846_4848del (p.Thr1616del)
c.4873_4875del (p.Thr1625del)
c.4759_4761del (p.Thr1587del)
c.*86_*88del (n.*86_*88del)
n.5119_5121del
n.5135_5137del
c.3103_3105del (p.Thr1035del)
c.2386_2388del (p.Thr796del)
11g.68448955C>ACA381618437LRP5c.4733C>A (p.Thr1578Lys)
n.324C>A
c.403C>A
c.*3339C>A (n.*3339C>A)
c.2990C>A (p.Thr997Lys)
c.4847C>A (p.Thr1616Lys)
c.4874C>A (p.Thr1625Lys)
c.4760C>A (p.Thr1587Lys)
c.*87C>A (n.*87C>A)
n.5120C>A
n.5136C>A
c.3104C>A (p.Thr1035Lys)
c.2387C>A (p.Thr796Lys)
11g.68448955C=CA1980656803LRP5c.4733C= (p.Thr1578=)
n.324C=
c.403C=
c.*3339C= (n.*3339C=)
c.2990C= (p.Thr997=)
c.4847C= (p.Thr1616=)
c.4874C= (p.Thr1625=)
c.4760C= (p.Thr1587=)
c.*87C= (n.*87C=)
n.5120C=
n.5136C=
c.3104C= (p.Thr1035=)
c.2387C= (p.Thr796=)
11g.68448955C>GCA381618440LRP5c.4733C>G (p.Thr1578Arg)
n.324C>G
c.403C>G
c.*3339C>G (n.*3339C>G)
c.2990C>G (p.Thr997Arg)
c.4847C>G (p.Thr1616Arg)
c.4874C>G (p.Thr1625Arg)
c.4760C>G (p.Thr1587Arg)
c.*87C>G (n.*87C>G)
n.5120C>G
n.5136C>G
c.3104C>G (p.Thr1035Arg)
c.2387C>G (p.Thr796Arg)
11g.68448955C>TCA224260778LRP5c.4733C>T (p.Thr1578Met)
n.324C>T
c.403C>T
c.*3339C>T (n.*3339C>T)
c.2990C>T (p.Thr997Met)
c.4847C>T (p.Thr1616Met)
c.4874C>T (p.Thr1625Met)
c.4760C>T (p.Thr1587Met)
c.*87C>T (n.*87C>T)
n.5120C>T
n.5136C>T
c.3104C>T (p.Thr1035Met)
c.2387C>T (p.Thr796Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68448956_68448958delCA2792543547LRP5c.4734_4736del (p.Pro1579del)
n.325_327del
c.404_406del
c.*3340_*3342del (n.*3340_*3342del)
c.2991_2993del (p.Pro998del)
c.4848_4850del (p.Pro1617del)
c.4875_4877del (p.Pro1626del)
c.4761_4763del (p.Pro1588del)
c.*88_*90del (n.*88_*90del)
n.5121_5123del
n.5137_5139del
c.3105_3107del (p.Pro1036del)
c.2388_2390del (p.Pro797del)
11g.68448956G>ACA6150494LRP5c.4734G>A (p.Thr1578=)
n.325G>A
c.404G>A
c.*3340G>A (n.*3340G>A)
c.2991G>A (p.Thr997=)
c.4848G>A (p.Thr1616=)
c.4875G>A (p.Thr1625=)
c.4761G>A (p.Thr1587=)
c.*88G>A (n.*88G>A)
n.5121G>A
n.5137G>A
c.3105G>A (p.Thr1035=)
c.2388G>A (p.Thr796=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68448956G>CCA475462746LRP5c.4734G>C (p.Thr1578=)
n.325G>C
c.404G>C
c.*3340G>C (n.*3340G>C)
c.2991G>C (p.Thr997=)
c.4848G>C (p.Thr1616=)
c.4875G>C (p.Thr1625=)
c.4761G>C (p.Thr1587=)
c.*88G>C (n.*88G>C)
n.5121G>C
n.5137G>C
c.3105G>C (p.Thr1035=)
c.2388G>C (p.Thr796=)
 dbSNP
11g.68448956G=CA1980656805LRP5c.4734G= (p.Thr1578=)
n.325G=
c.404G=
c.*3340G= (n.*3340G=)
c.2991G= (p.Thr997=)
c.4848G= (p.Thr1616=)
c.4875G= (p.Thr1625=)
c.4761G= (p.Thr1587=)
c.*88G= (n.*88G=)
n.5121G=
n.5137G=
c.3105G= (p.Thr1035=)
c.2388G= (p.Thr796=)
11g.68448956G>TCA475462748LRP5c.4734G>T (p.Thr1578=)
n.325G>T
c.404G>T
c.*3340G>T (n.*3340G>T)
c.2991G>T (p.Thr997=)
c.4848G>T (p.Thr1616=)
c.4875G>T (p.Thr1625=)
c.4761G>T (p.Thr1587=)
c.*88G>T (n.*88G>T)
n.5121G>T
n.5137G>T
c.3105G>T (p.Thr1035=)
c.2388G>T (p.Thr796=)
 gnomAD v4
11g.68448957C>ACA381618443LRP5c.4735C>A (p.Pro1579Thr)
n.326C>A
c.405C>A
c.*3341C>A (n.*3341C>A)
c.2992C>A (p.Pro998Thr)
c.4849C>A (p.Pro1617Thr)
c.4876C>A (p.Pro1626Thr)
c.4762C>A (p.Pro1588Thr)
c.*89C>A (n.*89C>A)
n.5122C>A
n.5138C>A
c.3106C>A (p.Pro1036Thr)
c.2389C>A (p.Pro797Thr)
 gnomAD v4
11g.68448957C>GCA381618444LRP5c.4735C>G (p.Pro1579Ala)
n.326C>G
c.405C>G
c.*3341C>G (n.*3341C>G)
c.2992C>G (p.Pro998Ala)
c.4849C>G (p.Pro1617Ala)
c.4876C>G (p.Pro1626Ala)
c.4762C>G (p.Pro1588Ala)
c.*89C>G (n.*89C>G)
n.5122C>G
n.5138C>G
c.3106C>G (p.Pro1036Ala)
c.2389C>G (p.Pro797Ala)
11g.68448957C>TCA381618446LRP5c.4735C>T (p.Pro1579Ser)
n.326C>T
c.405C>T
c.*3341C>T (n.*3341C>T)
c.2992C>T (p.Pro998Ser)
c.4849C>T (p.Pro1617Ser)
c.4876C>T (p.Pro1626Ser)
c.4762C>T (p.Pro1588Ser)
c.*89C>T (n.*89C>T)
n.5122C>T
n.5138C>T
c.3106C>T (p.Pro1036Ser)
c.2389C>T (p.Pro797Ser)
 gnomAD v4
11g.68448960delCA2574901402LRP5c.4738del (p.His1580ThrfsTer?)
n.329del
c.408del
c.*3344del (n.*3344del)
c.2995del (p.His999ThrfsTer?)
c.4852del (p.His1618ThrfsTer?)
c.4879del (p.His1627ThrfsTer?)
c.4765del (p.His1589ThrfsTer?)
c.*92del (n.*92del)
n.5125del
n.5141del
c.3109del (p.His1037ThrfsTer?)
c.2392del (p.His798ThrfsTer?)
11g.68448958C>ACA381618448LRP5c.4736C>A (p.Pro1579His)
n.327C>A
c.406C>A
c.*3342C>A (n.*3342C>A)
c.2993C>A (p.Pro998His)
c.4850C>A (p.Pro1617His)
c.4877C>A (p.Pro1626His)
c.4763C>A (p.Pro1588His)
c.*90C>A (n.*90C>A)
n.5123C>A
n.5139C>A
c.3107C>A (p.Pro1036His)
c.2390C>A (p.Pro797His)
 gnomAD v4
11g.68448958C>GCA381618450LRP5c.4736C>G (p.Pro1579Arg)
n.327C>G
c.406C>G
c.*3342C>G (n.*3342C>G)
c.2993C>G (p.Pro998Arg)
c.4850C>G (p.Pro1617Arg)
c.4877C>G (p.Pro1626Arg)
c.4763C>G (p.Pro1588Arg)
c.*90C>G (n.*90C>G)
n.5123C>G
n.5139C>G
c.3107C>G (p.Pro1036Arg)
c.2390C>G (p.Pro797Arg)
11g.68448958C>TCA381618453LRP5c.4736C>T (p.Pro1579Leu)
n.327C>T
c.406C>T
c.*3342C>T (n.*3342C>T)
c.2993C>T (p.Pro998Leu)
c.4850C>T (p.Pro1617Leu)
c.4877C>T (p.Pro1626Leu)
c.4763C>T (p.Pro1588Leu)
c.*90C>T (n.*90C>T)
n.5123C>T
n.5139C>T
c.3107C>T (p.Pro1036Leu)
c.2390C>T (p.Pro797Leu)
11g.68448959C>ACA475462754LRP5c.4737C>A (p.Pro1579=)
n.328C>A
c.407C>A
c.*3343C>A (n.*3343C>A)
c.2994C>A (p.Pro998=)
c.4851C>A (p.Pro1617=)
c.4878C>A (p.Pro1626=)
c.4764C>A (p.Pro1588=)
c.*91C>A (n.*91C>A)
n.5124C>A
n.5140C>A
c.3108C>A (p.Pro1036=)
c.2391C>A (p.Pro797=)
 gnomAD v4
11g.68448959C>GCA475462756LRP5c.4737C>G (p.Pro1579=)
n.328C>G
c.407C>G
c.*3343C>G (n.*3343C>G)
c.2994C>G (p.Pro998=)
c.4851C>G (p.Pro1617=)
c.4878C>G (p.Pro1626=)
c.4764C>G (p.Pro1588=)
c.*91C>G (n.*91C>G)
n.5124C>G
n.5140C>G
c.3108C>G (p.Pro1036=)
c.2391C>G (p.Pro797=)
11g.68448959C>TCA475462757LRP5c.4737C>T (p.Pro1579=)
n.328C>T
c.407C>T
c.*3343C>T (n.*3343C>T)
c.2994C>T (p.Pro998=)
c.4851C>T (p.Pro1617=)
c.4878C>T (p.Pro1626=)
c.4764C>T (p.Pro1588=)
c.*91C>T (n.*91C>T)
n.5124C>T
n.5140C>T
c.3108C>T (p.Pro1036=)
c.2391C>T (p.Pro797=)
11g.68448959_68448960insAACA2792543548LRP5c.4737_4738insAA (p.His1580AsnfsTer?)
n.328_329insAA
c.407_408insAA
c.*3343_*3344insAA (n.*3343_*3344insAA)
c.2994_2995insAA (p.His999AsnfsTer?)
c.4851_4852insAA (p.His1618AsnfsTer?)
c.4878_4879insAA (p.His1627AsnfsTer?)
c.4764_4765insAA (p.His1589AsnfsTer?)
c.*91_*92insAA (n.*91_*92insAA)
n.5124_5125insAA
n.5140_5141insAA
c.3108_3109insAA (p.His1037AsnfsTer?)
c.2391_2392insAA (p.His798AsnfsTer?)
11g.68448959_68448960insAAACA2792543550LRP5c.4737_4738insAAA (p.Pro1579_His1580insLys)
n.328_329insAAA
c.407_408insAAA
c.*3343_*3344insAAA (n.*3343_*3344insAAA)
c.2994_2995insAAA (p.Pro998_His999insLys)
c.4851_4852insAAA (p.Pro1617_His1618insLys)
c.4878_4879insAAA (p.Pro1626_His1627insLys)
c.4764_4765insAAA (p.Pro1588_His1589insLys)
c.*91_*92insAAA (n.*91_*92insAAA)
n.5124_5125insAAA
n.5140_5141insAAA
c.3108_3109insAAA (p.Pro1036_His1037insLys)
c.2391_2392insAAA (p.Pro797_His798insLys)
11g.68448960C>ACA381618455LRP5c.4738C>A (p.His1580Asn)
n.329C>A
c.408C>A
c.*3344C>A (n.*3344C>A)
c.2995C>A (p.His999Asn)
c.4852C>A (p.His1618Asn)
c.4879C>A (p.His1627Asn)
c.4765C>A (p.His1589Asn)
c.*92C>A (n.*92C>A)
n.5125C>A
n.5141C>A
c.3109C>A (p.His1037Asn)
c.2392C>A (p.His798Asn)
11g.68448960C>GCA381618457LRP5c.4738C>G (p.His1580Asp)
n.329C>G
c.408C>G
c.*3344C>G (n.*3344C>G)
c.2995C>G (p.His999Asp)
c.4852C>G (p.His1618Asp)
c.4879C>G (p.His1627Asp)
c.4765C>G (p.His1589Asp)
c.*92C>G (n.*92C>G)
n.5125C>G
n.5141C>G
c.3109C>G (p.His1037Asp)
c.2392C>G (p.His798Asp)
11g.68448960C>TCA381618459LRP5c.4738C>T (p.His1580Tyr)
n.329C>T
c.408C>T
c.*3344C>T (n.*3344C>T)
c.2995C>T (p.His999Tyr)
c.4852C>T (p.His1618Tyr)
c.4879C>T (p.His1627Tyr)
c.4765C>T (p.His1589Tyr)
c.*92C>T (n.*92C>T)
n.5125C>T
n.5141C>T
c.3109C>T (p.His1037Tyr)
c.2392C>T (p.His798Tyr)
11g.68448961_68448962insAACACACCCAACACA2792543549LRP5c.4739_4740insAACACACCCAACA (p.His1580GlnfsTer?)
n.330_331insAACACACCCAACA
c.409_410insAACACACCCAACA
c.*3345_*3346insAACACACCCAACA (n.*3345_*3346insAACACACCCAACA)
c.2996_2997insAACACACCCAACA (p.His999GlnfsTer?)
c.4853_4854insAACACACCCAACA (p.His1618GlnfsTer?)
c.4880_4881insAACACACCCAACA (p.His1627GlnfsTer?)
c.4766_4767insAACACACCCAACA (p.His1589GlnfsTer?)
c.*93_*94insAACACACCCAACA (n.*93_*94insAACACACCCAACA)
n.5126_5127insAACACACCCAACA
n.5142_5143insAACACACCCAACA
c.3110_3111insAACACACCCAACA (p.His1037GlnfsTer?)
c.2393_2394insAACACACCCAACA (p.His798GlnfsTer?)
11g.68448961A=CA1980656809LRP5c.4739A= (p.His1580=)
n.330A=
c.409A=
c.*3345A= (n.*3345A=)
c.2996A= (p.His999=)
c.4853A= (p.His1618=)
c.4880A= (p.His1627=)
c.4766A= (p.His1589=)
c.*93A= (n.*93A=)
n.5126A=
n.5142A=
c.3110A= (p.His1037=)
c.2393A= (p.His798=)
11g.68448961A>CCA6150495LRP5c.4739A>C (p.His1580Pro)
n.330A>C
c.409A>C
c.*3345A>C (n.*3345A>C)
c.2996A>C (p.His999Pro)
c.4853A>C (p.His1618Pro)
c.4880A>C (p.His1627Pro)
c.4766A>C (p.His1589Pro)
c.*93A>C (n.*93A>C)
n.5126A>C
n.5142A>C
c.3110A>C (p.His1037Pro)
c.2393A>C (p.His798Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68448961A>GCA381618462LRP5c.4739A>G (p.His1580Arg)
n.330A>G
c.409A>G
c.*3345A>G (n.*3345A>G)
c.2996A>G (p.His999Arg)
c.4853A>G (p.His1618Arg)
c.4880A>G (p.His1627Arg)
c.4766A>G (p.His1589Arg)
c.*93A>G (n.*93A>G)
n.5126A>G
n.5142A>G
c.3110A>G (p.His1037Arg)
c.2393A>G (p.His798Arg)
 gnomAD v4
11g.68448961A>TCA381618464LRP5c.4739A>T (p.His1580Leu)
n.330A>T
c.409A>T
c.*3345A>T (n.*3345A>T)
c.2996A>T (p.His999Leu)
c.4853A>T (p.His1618Leu)
c.4880A>T (p.His1627Leu)
c.4766A>T (p.His1589Leu)
c.*93A>T (n.*93A>T)
n.5126A>T
n.5142A>T
c.3110A>T (p.His1037Leu)
c.2393A>T (p.His798Leu)
11g.68448962C>ACA381618466LRP5c.4740C>A (p.His1580Gln)
n.331C>A
c.410C>A
c.*3346C>A (n.*3346C>A)
c.2997C>A (p.His999Gln)
c.4854C>A (p.His1618Gln)
c.4881C>A (p.His1627Gln)
c.4767C>A (p.His1589Gln)
c.*94C>A (n.*94C>A)
n.5127C>A
n.5143C>A
c.3111C>A (p.His1037Gln)
c.2394C>A (p.His798Gln)
11g.68448962C>GCA381618467LRP5c.4740C>G (p.His1580Gln)
n.331C>G
c.410C>G
c.*3346C>G (n.*3346C>G)
c.2997C>G (p.His999Gln)
c.4854C>G (p.His1618Gln)
c.4881C>G (p.His1627Gln)
c.4767C>G (p.His1589Gln)
c.*94C>G (n.*94C>G)
n.5127C>G
n.5143C>G
c.3111C>G (p.His1037Gln)
c.2394C>G (p.His798Gln)
11g.68448962C>TCA475462766LRP5c.4740C>T (p.His1580=)
n.331C>T
c.410C>T
c.*3346C>T (n.*3346C>T)
c.2997C>T (p.His999=)
c.4854C>T (p.His1618=)
c.4881C>T (p.His1627=)
c.4767C>T (p.His1589=)
c.*94C>T (n.*94C>T)
n.5127C>T
n.5143C>T
c.3111C>T (p.His1037=)
c.2394C>T (p.His798=)
 ClinVar gnomAD v4
11g.68448963A>CCA381618469LRP5c.4741A>C (p.Ser1581Arg)
n.332A>C
c.411A>C
c.*3347A>C (n.*3347A>C)
c.2998A>C (p.Ser1000Arg)
c.4855A>C (p.Ser1619Arg)
c.4882A>C (p.Ser1628Arg)
c.4768A>C (p.Ser1590Arg)
c.*95A>C (n.*95A>C)
n.5128A>C
n.5144A>C
c.3112A>C (p.Ser1038Arg)
c.2395A>C (p.Ser799Arg)
 dbSNP
11g.68448963A>GCA381618471LRP5c.4741A>G (p.Ser1581Gly)
n.332A>G
c.411A>G
c.*3347A>G (n.*3347A>G)
c.2998A>G (p.Ser1000Gly)
c.4855A>G (p.Ser1619Gly)
c.4882A>G (p.Ser1628Gly)
c.4768A>G (p.Ser1590Gly)
c.*95A>G (n.*95A>G)
n.5128A>G
n.5144A>G
c.3112A>G (p.Ser1038Gly)
c.2395A>G (p.Ser799Gly)
11g.68448963A>TCA381618472LRP5c.4741A>T (p.Ser1581Cys)
n.332A>T
c.411A>T
c.*3347A>T (n.*3347A>T)
c.2998A>T (p.Ser1000Cys)
c.4855A>T (p.Ser1619Cys)
c.4882A>T (p.Ser1628Cys)
c.4768A>T (p.Ser1590Cys)
c.*95A>T (n.*95A>T)
n.5128A>T
n.5144A>T
c.3112A>T (p.Ser1038Cys)
c.2395A>T (p.Ser799Cys)
11g.68448963_68448964delCA2573102992LRP5c.4741_4742del (p.Ser1581ProfsTer?)
n.332_333del
c.411_412del
c.*3347_*3348del (n.*3347_*3348del)
c.2998_2999del (p.Ser1000ProfsTer?)
c.4855_4856del (p.Ser1619ProfsTer?)
c.4882_4883del (p.Ser1628ProfsTer?)
c.4768_4769del (p.Ser1590ProfsTer?)
c.*95_*96del (n.*95_*96del)
n.5128_5129del
n.5144_5145del
c.3112_3113del (p.Ser1038ProfsTer?)
c.2395_2396del (p.Ser799ProfsTer?)
11g.68448964G>ACA381618475LRP5c.4742G>A (p.Ser1581Asn)
n.333G>A
c.412G>A
c.*3348G>A (n.*3348G>A)
c.2999G>A (p.Ser1000Asn)
c.4856G>A (p.Ser1619Asn)
c.4883G>A (p.Ser1628Asn)
c.4769G>A (p.Ser1590Asn)
c.*96G>A (n.*96G>A)
n.5129G>A
n.5145G>A
c.3113G>A (p.Ser1038Asn)
c.2396G>A (p.Ser799Asn)
 COSMIC
11g.68448964G>CCA381618477LRP5c.4742G>C (p.Ser1581Thr)
n.333G>C
c.412G>C
c.*3348G>C (n.*3348G>C)
c.2999G>C (p.Ser1000Thr)
c.4856G>C (p.Ser1619Thr)
c.4883G>C (p.Ser1628Thr)
c.4769G>C (p.Ser1590Thr)
c.*96G>C (n.*96G>C)
n.5129G>C
n.5145G>C
c.3113G>C (p.Ser1038Thr)
c.2396G>C (p.Ser799Thr)
 dbSNP
11g.68448964G=CA1980656812LRP5c.4742G= (p.Ser1581=)
n.333G=
c.412G=
c.*3348G= (n.*3348G=)
c.2999G= (p.Ser1000=)
c.4856G= (p.Ser1619=)
c.4883G= (p.Ser1628=)
c.4769G= (p.Ser1590=)
c.*96G= (n.*96G=)
n.5129G=
n.5145G=
c.3113G= (p.Ser1038=)
c.2396G= (p.Ser799=)
11g.68448964G>TCA6150496LRP5c.4742G>T (p.Ser1581Ile)
n.333G>T
c.412G>T
c.*3348G>T (n.*3348G>T)
c.2999G>T (p.Ser1000Ile)
c.4856G>T (p.Ser1619Ile)
c.4883G>T (p.Ser1628Ile)
c.4769G>T (p.Ser1590Ile)
c.*96G>T (n.*96G>T)
n.5129G>T
n.5145G>T
c.3113G>T (p.Ser1038Ile)
c.2396G>T (p.Ser799Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68448965C>ACA381618480LRP5c.4743C>A (p.Ser1581Arg)
n.334C>A
c.413C>A
c.*3349C>A (n.*3349C>A)
c.3000C>A (p.Ser1000Arg)
c.4857C>A (p.Ser1619Arg)
c.4884C>A (p.Ser1628Arg)
c.4770C>A (p.Ser1590Arg)
c.*97C>A (n.*97C>A)
n.5130C>A
n.5146C>A
c.3114C>A (p.Ser1038Arg)
c.2397C>A (p.Ser799Arg)
11g.68448965C>GCA381618482LRP5c.4743C>G (p.Ser1581Arg)
n.334C>G
c.413C>G
c.*3349C>G (n.*3349C>G)
c.3000C>G (p.Ser1000Arg)
c.4857C>G (p.Ser1619Arg)
c.4884C>G (p.Ser1628Arg)
c.4770C>G (p.Ser1590Arg)
c.*97C>G (n.*97C>G)
n.5130C>G
n.5146C>G
c.3114C>G (p.Ser1038Arg)
c.2397C>G (p.Ser799Arg)
11g.68448965C>TCA475462775LRP5c.4743C>T (p.Ser1581=)
n.334C>T
c.413C>T
c.*3349C>T (n.*3349C>T)
c.3000C>T (p.Ser1000=)
c.4857C>T (p.Ser1619=)
c.4884C>T (p.Ser1628=)
c.4770C>T (p.Ser1590=)
c.*97C>T (n.*97C>T)
n.5130C>T
n.5146C>T
c.3114C>T (p.Ser1038=)
c.2397C>T (p.Ser799=)
11g.68448966C>ACA381618484LRP5c.4744C>A (p.Gln1582Lys)
n.335C>A
c.414C>A
c.*3350C>A (n.*3350C>A)
c.3001C>A (p.Gln1001Lys)
c.4858C>A (p.Gln1620Lys)
c.4885C>A (p.Gln1629Lys)
c.4771C>A (p.Gln1591Lys)
c.*98C>A (n.*98C>A)
n.5131C>A
n.5147C>A
c.3115C>A (p.Gln1039Lys)
c.2398C>A (p.Gln800Lys)
11g.68448966C>GCA381618486LRP5c.4744C>G (p.Gln1582Glu)
n.335C>G
c.414C>G
c.*3350C>G (n.*3350C>G)
c.3001C>G (p.Gln1001Glu)
c.4858C>G (p.Gln1620Glu)
c.4885C>G (p.Gln1629Glu)
c.4771C>G (p.Gln1591Glu)
c.*98C>G (n.*98C>G)
n.5131C>G
n.5147C>G
c.3115C>G (p.Gln1039Glu)
c.2398C>G (p.Gln800Glu)
11g.68448966C>TCA381618488LRP5c.4744C>T (p.Gln1582Ter)
n.335C>T
c.414C>T
c.*3350C>T (n.*3350C>T)
c.3001C>T (p.Gln1001Ter)
c.4858C>T (p.Gln1620Ter)
c.4885C>T (p.Gln1629Ter)
c.4771C>T (p.Gln1591Ter)
c.*98C>T (n.*98C>T)
n.5131C>T
n.5147C>T
c.3115C>T (p.Gln1039Ter)
c.2398C>T (p.Gln800Ter)
11g.68448967A>CCA381618494LRP5c.4745A>C (p.Gln1582Pro)
n.336A>C
c.415A>C
c.*3351A>C (n.*3351A>C)
c.3002A>C (p.Gln1001Pro)
c.4859A>C (p.Gln1620Pro)
c.4886A>C (p.Gln1629Pro)
c.4772A>C (p.Gln1591Pro)
c.*99A>C (n.*99A>C)
n.5132A>C
n.5148A>C
c.3116A>C (p.Gln1039Pro)
c.2399A>C (p.Gln800Pro)
11g.68448967A>GCA381618490LRP5c.4745A>G (p.Gln1582Arg)
n.336A>G
c.415A>G
c.*3351A>G (n.*3351A>G)
c.3002A>G (p.Gln1001Arg)
c.4859A>G (p.Gln1620Arg)
c.4886A>G (p.Gln1629Arg)
c.4772A>G (p.Gln1591Arg)
c.*99A>G (n.*99A>G)
n.5132A>G
n.5148A>G
c.3116A>G (p.Gln1039Arg)
c.2399A>G (p.Gln800Arg)
11g.68448967A>TCA381618492LRP5c.4745A>T (p.Gln1582Leu)
n.336A>T
c.415A>T
c.*3351A>T (n.*3351A>T)
c.3002A>T (p.Gln1001Leu)
c.4859A>T (p.Gln1620Leu)
c.4886A>T (p.Gln1629Leu)
c.4772A>T (p.Gln1591Leu)
c.*99A>T (n.*99A>T)
n.5132A>T
n.5148A>T
c.3116A>T (p.Gln1039Leu)
c.2399A>T (p.Gln800Leu)
11g.68448968G>ACA475462785LRP5c.4746G>A (p.Gln1582=)
n.337G>A
c.416G>A
c.*3352G>A (n.*3352G>A)
c.3003G>A (p.Gln1001=)
c.4860G>A (p.Gln1620=)
c.4887G>A (p.Gln1629=)
c.4773G>A (p.Gln1591=)
c.*100G>A (n.*100G>A)
n.5133G>A
n.5149G>A
c.3117G>A (p.Gln1039=)
c.2400G>A (p.Gln800=)
 dbSNP gnomAD v2 gnomAD v4
11g.68448968G>CCA6150497LRP5c.4746G>C (p.Gln1582His)
n.337G>C
c.416G>C
c.*3352G>C (n.*3352G>C)
c.3003G>C (p.Gln1001His)
c.4860G>C (p.Gln1620His)
c.4887G>C (p.Gln1629His)
c.4773G>C (p.Gln1591His)
c.*100G>C (n.*100G>C)
n.5133G>C
n.5149G>C
c.3117G>C (p.Gln1039His)
c.2400G>C (p.Gln800His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.68448968G=CA1980656815LRP5c.4746G= (p.Gln1582=)
n.337G=
c.416G=
c.*3352G= (n.*3352G=)
c.3003G= (p.Gln1001=)
c.4860G= (p.Gln1620=)
c.4887G= (p.Gln1629=)
c.4773G= (p.Gln1591=)
c.*100G= (n.*100G=)
n.5133G=
n.5149G=
c.3117G= (p.Gln1039=)
c.2400G= (p.Gln800=)
11g.68448968G>TCA381618496LRP5c.4746G>T (p.Gln1582His)
n.337G>T
c.416G>T
c.*3352G>T (n.*3352G>T)
c.3003G>T (p.Gln1001His)
c.4860G>T (p.Gln1620His)
c.4887G>T (p.Gln1629His)
c.4773G>T (p.Gln1591His)
c.*100G>T (n.*100G>T)
n.5133G>T
n.5149G>T
c.3117G>T (p.Gln1039His)
c.2400G>T (p.Gln800His)
 gnomAD v4
11g.68448969T>ACA381618499LRP5c.4747T>A (p.Tyr1583Asn)
n.338T>A
c.417T>A
c.*3353T>A (n.*3353T>A)
c.3004T>A (p.Tyr1002Asn)
c.4861T>A (p.Tyr1621Asn)
c.4888T>A (p.Tyr1630Asn)
c.4774T>A (p.Tyr1592Asn)
c.*101T>A (n.*101T>A)
n.5134T>A
n.5150T>A
c.3118T>A (p.Tyr1040Asn)
c.2401T>A (p.Tyr801Asn)
11g.68448969T>CCA381618501LRP5c.4747T>C (p.Tyr1583His)
n.338T>C
c.417T>C
c.*3353T>C (n.*3353T>C)
c.3004T>C (p.Tyr1002His)
c.4861T>C (p.Tyr1621His)
c.4888T>C (p.Tyr1630His)
c.4774T>C (p.Tyr1592His)
c.*101T>C (n.*101T>C)
n.5134T>C
n.5150T>C
c.3118T>C (p.Tyr1040His)
c.2401T>C (p.Tyr801His)
11g.68448969T>GCA381618502LRP5c.4747T>G (p.Tyr1583Asp)
n.338T>G
c.417T>G
c.*3353T>G (n.*3353T>G)
c.3004T>G (p.Tyr1002Asp)
c.4861T>G (p.Tyr1621Asp)
c.4888T>G (p.Tyr1630Asp)
c.4774T>G (p.Tyr1592Asp)
c.*101T>G (n.*101T>G)
n.5134T>G
n.5150T>G
c.3118T>G (p.Tyr1040Asp)
c.2401T>G (p.Tyr801Asp)
 dbSNP
11g.68448969T=CA1980656817LRP5c.4747T= (p.Tyr1583=)
n.338T=
c.417T=
c.*3353T= (n.*3353T=)
c.3004T= (p.Tyr1002=)
c.4861T= (p.Tyr1621=)
c.4888T= (p.Tyr1630=)
c.4774T= (p.Tyr1592=)
c.*101T= (n.*101T=)
n.5134T=
n.5150T=
c.3118T= (p.Tyr1040=)
c.2401T= (p.Tyr801=)
11g.68448970A>CCA381618503LRP5c.4748A>C (p.Tyr1583Ser)
n.339A>C
c.418A>C
c.*3354A>C (n.*3354A>C)
c.3005A>C (p.Tyr1002Ser)
c.4862A>C (p.Tyr1621Ser)
c.4889A>C (p.Tyr1630Ser)
c.4775A>C (p.Tyr1592Ser)
c.*102A>C (n.*102A>C)
n.5135A>C
n.5151A>C
c.3119A>C (p.Tyr1040Ser)
c.2402A>C (p.Tyr801Ser)
11g.68448970A>GCA381618505LRP5c.4748A>G (p.Tyr1583Cys)
n.339A>G
c.418A>G
c.*3354A>G (n.*3354A>G)
c.3005A>G (p.Tyr1002Cys)
c.4862A>G (p.Tyr1621Cys)
c.4889A>G (p.Tyr1630Cys)
c.4775A>G (p.Tyr1592Cys)
c.*102A>G (n.*102A>G)
n.5135A>G
n.5151A>G
c.3119A>G (p.Tyr1040Cys)
c.2402A>G (p.Tyr801Cys)
11g.68448970A>TCA381618507LRP5c.4748A>T (p.Tyr1583Phe)
n.339A>T
c.418A>T
c.*3354A>T (n.*3354A>T)
c.3005A>T (p.Tyr1002Phe)
c.4862A>T (p.Tyr1621Phe)
c.4889A>T (p.Tyr1630Phe)
c.4775A>T (p.Tyr1592Phe)
c.*102A>T (n.*102A>T)
n.5135A>T
n.5151A>T
c.3119A>T (p.Tyr1040Phe)
c.2402A>T (p.Tyr801Phe)
11g.68448972_68448986delCA2614718277LRP5c.4750_4764del (p.Leu1584_Asp1588del)
n.341_355del
c.420_434del
c.*3356_*3370del (n.*3356_*3370del)
c.3007_3021del (p.Leu1003_Asp1007del)
c.4864_4878del (p.Leu1622_Asp1626del)
c.4891_4905del (p.Leu1631_Asp1635del)
c.4777_4791del (p.Leu1593_Asp1597del)
c.*104_*118del (n.*104_*118del)
n.5137_5151del
n.5153_5167del
c.3121_3135del (p.Leu1041_Asp1045del)
c.2404_2418del (p.Leu802_Asp806del)
 gnomAD v4
11g.68448971C>ACA381618508LRP5c.4749C>A (p.Tyr1583Ter)
n.340C>A
c.419C>A
c.*3355C>A (n.*3355C>A)
c.3006C>A (p.Tyr1002Ter)
c.4863C>A (p.Tyr1621Ter)
c.4890C>A (p.Tyr1630Ter)
c.4776C>A (p.Tyr1592Ter)
c.*103C>A (n.*103C>A)
n.5136C>A
n.5152C>A
c.3120C>A (p.Tyr1040Ter)
c.2403C>A (p.Tyr801Ter)
11g.68448971C>GCA381618509LRP5c.4749C>G (p.Tyr1583Ter)
n.340C>G
c.419C>G
c.*3355C>G (n.*3355C>G)
c.3006C>G (p.Tyr1002Ter)
c.4863C>G (p.Tyr1621Ter)
c.4890C>G (p.Tyr1630Ter)
c.4776C>G (p.Tyr1592Ter)
c.*103C>G (n.*103C>G)
n.5136C>G
n.5152C>G
c.3120C>G (p.Tyr1040Ter)
c.2403C>G (p.Tyr801Ter)
11g.68448971C>TCA475462794LRP5c.4749C>T (p.Tyr1583=)
n.340C>T
c.419C>T
c.*3355C>T (n.*3355C>T)
c.3006C>T (p.Tyr1002=)
c.4863C>T (p.Tyr1621=)
c.4890C>T (p.Tyr1630=)
c.4776C>T (p.Tyr1592=)
c.*103C>T (n.*103C>T)
n.5136C>T
n.5152C>T
c.3120C>T (p.Tyr1040=)
c.2403C>T (p.Tyr801=)
11g.68448972C>ACA381618511LRP5c.4750C>A (p.Leu1584Met)
n.341C>A
c.420C>A
c.*3356C>A (n.*3356C>A)
c.3007C>A (p.Leu1003Met)
c.4864C>A (p.Leu1622Met)
c.4891C>A (p.Leu1631Met)
c.4777C>A (p.Leu1593Met)
c.*104C>A (n.*104C>A)
n.5137C>A
n.5153C>A
c.3121C>A (p.Leu1041Met)
c.2404C>A (p.Leu802Met)
11g.68448972C=CA1980656819LRP5c.4750C= (p.Leu1584=)
n.341C=
c.420C=
c.*3356C= (n.*3356C=)
c.3007C= (p.Leu1003=)
c.4864C= (p.Leu1622=)
c.4891C= (p.Leu1631=)
c.4777C= (p.Leu1593=)
c.*104C= (n.*104C=)
n.5137C=
n.5153C=
c.3121C= (p.Leu1041=)
c.2404C= (p.Leu802=)
11g.68448972C>GCA381618513LRP5c.4750C>G (p.Leu1584Val)
n.341C>G
c.420C>G
c.*3356C>G (n.*3356C>G)
c.3007C>G (p.Leu1003Val)
c.4864C>G (p.Leu1622Val)
c.4891C>G (p.Leu1631Val)
c.4777C>G (p.Leu1593Val)
c.*104C>G (n.*104C>G)
n.5137C>G
n.5153C>G
c.3121C>G (p.Leu1041Val)
c.2404C>G (p.Leu802Val)
 gnomAD v4
11g.68448972C>TCA475462797LRP5c.4750C>T (p.Leu1584=)
n.341C>T
c.420C>T
c.*3356C>T (n.*3356C>T)
c.3007C>T (p.Leu1003=)
c.4864C>T (p.Leu1622=)
c.4891C>T (p.Leu1631=)
c.4777C>T (p.Leu1593=)
c.*104C>T (n.*104C>T)
n.5137C>T
n.5153C>T
c.3121C>T (p.Leu1041=)
c.2404C>T (p.Leu802=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68448973T>ACA381618516LRP5c.4751T>A (p.Leu1584Gln)
n.342T>A
c.421T>A
c.*3357T>A (n.*3357T>A)
c.3008T>A (p.Leu1003Gln)
c.4865T>A (p.Leu1622Gln)
c.4892T>A (p.Leu1631Gln)
c.4778T>A (p.Leu1593Gln)
c.*105T>A (n.*105T>A)
n.5138T>A
n.5154T>A
c.3122T>A (p.Leu1041Gln)
c.2405T>A (p.Leu802Gln)
11g.68448973T>CCA381618517LRP5c.4751T>C (p.Leu1584Pro)
n.342T>C
c.421T>C
c.*3357T>C (n.*3357T>C)
c.3008T>C (p.Leu1003Pro)
c.4865T>C (p.Leu1622Pro)
c.4892T>C (p.Leu1631Pro)
c.4778T>C (p.Leu1593Pro)
c.*105T>C (n.*105T>C)
n.5138T>C
n.5154T>C
c.3122T>C (p.Leu1041Pro)
c.2405T>C (p.Leu802Pro)
11g.68448973T>GCA381618519LRP5c.4751T>G (p.Leu1584Arg)
n.342T>G
c.421T>G
c.*3357T>G (n.*3357T>G)
c.3008T>G (p.Leu1003Arg)
c.4865T>G (p.Leu1622Arg)
c.4892T>G (p.Leu1631Arg)
c.4778T>G (p.Leu1593Arg)
c.*105T>G (n.*105T>G)
n.5138T>G
n.5154T>G
c.3122T>G (p.Leu1041Arg)
c.2405T>G (p.Leu802Arg)

Number of alleles fetched