Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68448827A= | CA1980666855 | LRP5 | c.4605A= (p.Gly1535=) n.196A= c.275A= c.*3211A= (n.*3211A=) c.2862A= (p.Gly954=) c.4719A= (p.Gly1573=) c.4746A= (p.Gly1582=) c.4632A= (p.Gly1544=) c.4762A= (p.Asn1588=) n.4992A= n.5008A= c.2976A= (p.Gly992=) c.2259A= (p.Gly753=) | |
11 | g.68448827A>C | CA475462505 | LRP5 | c.4605A>C (p.Gly1535=) n.196A>C c.275A>C c.*3211A>C (n.*3211A>C) c.2862A>C (p.Gly954=) c.4719A>C (p.Gly1573=) c.4746A>C (p.Gly1582=) c.4632A>C (p.Gly1544=) c.4762A>C (p.Asn1588His) n.4992A>C n.5008A>C c.2976A>C (p.Gly992=) c.2259A>C (p.Gly753=) | |
11 | g.68448827A>G | CA475462506 | LRP5 | c.4605A>G (p.Gly1535=) n.196A>G c.275A>G c.*3211A>G (n.*3211A>G) c.2862A>G (p.Gly954=) c.4719A>G (p.Gly1573=) c.4746A>G (p.Gly1582=) c.4632A>G (p.Gly1544=) c.4762A>G (p.Asn1588Asp) n.4992A>G n.5008A>G c.2976A>G (p.Gly992=) c.2259A>G (p.Gly753=) | dbSNP gnomAD v4 |
11 | g.68448827A>T | CA475462507 | LRP5 | c.4605A>T (p.Gly1535=) n.196A>T c.275A>T c.*3211A>T (n.*3211A>T) c.2862A>T (p.Gly954=) c.4719A>T (p.Gly1573=) c.4746A>T (p.Gly1582=) c.4632A>T (p.Gly1544=) c.4762A>T (p.Asn1588Tyr) n.4992A>T n.5008A>T c.2976A>T (p.Gly992=) c.2259A>T (p.Gly753=) | gnomAD v4 |
11 | g.68448828A>C | CA381617848 | LRP5 | c.4606A>C (p.Met1536Leu) n.197A>C c.276A>C c.*3212A>C (n.*3212A>C) c.2863A>C (p.Met955Leu) c.4720A>C (p.Met1574Leu) c.4747A>C (p.Met1583Leu) c.4633A>C (p.Met1545Leu) c.4763A>C (p.Asn1588Thr) n.4993A>C n.5009A>C c.2977A>C (p.Met993Leu) c.2260A>C (p.Met754Leu) | |
11 | g.68448828A>G | CA381617851 | LRP5 | c.4606A>G (p.Met1536Val) n.197A>G c.276A>G c.*3212A>G (n.*3212A>G) c.2863A>G (p.Met955Val) c.4720A>G (p.Met1574Val) c.4747A>G (p.Met1583Val) c.4633A>G (p.Met1545Val) c.4763A>G (p.Asn1588Ser) n.4993A>G n.5009A>G c.2977A>G (p.Met993Val) c.2260A>G (p.Met754Val) | |
11 | g.68448828A>T | CA381617852 | LRP5 | c.4606A>T (p.Met1536Leu) n.197A>T c.276A>T c.*3212A>T (n.*3212A>T) c.2863A>T (p.Met955Leu) c.4720A>T (p.Met1574Leu) c.4747A>T (p.Met1583Leu) c.4633A>T (p.Met1545Leu) c.4763A>T (p.Asn1588Ile) n.4993A>T n.5009A>T c.2977A>T (p.Met993Leu) c.2260A>T (p.Met754Leu) | |
11 | g.68448829T>A | CA381617854 | LRP5 | c.4607T>A (p.Met1536Lys) n.198T>A c.277T>A c.*3213T>A (n.*3213T>A) c.2864T>A (p.Met955Lys) c.4721T>A (p.Met1574Lys) c.4748T>A (p.Met1583Lys) c.4634T>A (p.Met1545Lys) c.4764T>A (p.Asn1588Lys) n.4994T>A n.5010T>A c.2978T>A (p.Met993Lys) c.2261T>A (p.Met754Lys) | |
11 | g.68448829T>C | CA381617856 | LRP5 | c.4607T>C (p.Met1536Thr) n.198T>C c.277T>C c.*3213T>C (n.*3213T>C) c.2864T>C (p.Met955Thr) c.4721T>C (p.Met1574Thr) c.4748T>C (p.Met1583Thr) c.4634T>C (p.Met1545Thr) c.4764T>C (p.Asn1588=) n.4994T>C n.5010T>C c.2978T>C (p.Met993Thr) c.2261T>C (p.Met754Thr) | |
11 | g.68448829T>G | CA381617858 | LRP5 | c.4607T>G (p.Met1536Arg) n.198T>G c.277T>G c.*3213T>G (n.*3213T>G) c.2864T>G (p.Met955Arg) c.4721T>G (p.Met1574Arg) c.4748T>G (p.Met1583Arg) c.4634T>G (p.Met1545Arg) c.4764T>G (p.Asn1588Lys) n.4994T>G n.5010T>G c.2978T>G (p.Met993Arg) c.2261T>G (p.Met754Arg) | |
11 | g.68448830G>A | CA381617864 | LRP5 | c.4608G>A (p.Met1536Ile) n.199G>A c.278G>A c.*3214G>A (n.*3214G>A) c.2865G>A (p.Met955Ile) c.4722G>A (p.Met1574Ile) c.4749G>A (p.Met1583Ile) c.4635G>A (p.Met1545Ile) c.4765G>A (p.Gly1589Ser) n.4995G>A n.5011G>A c.2979G>A (p.Met993Ile) c.2262G>A (p.Met754Ile) | gnomAD v4 |
11 | g.68448830G>C | CA381617863 | LRP5 | c.4608G>C (p.Met1536Ile) n.199G>C c.278G>C c.*3214G>C (n.*3214G>C) c.2865G>C (p.Met955Ile) c.4722G>C (p.Met1574Ile) c.4749G>C (p.Met1583Ile) c.4635G>C (p.Met1545Ile) c.4765G>C (p.Gly1589Arg) n.4995G>C n.5011G>C c.2979G>C (p.Met993Ile) c.2262G>C (p.Met754Ile) | |
11 | g.68448830G>T | CA381617861 | LRP5 | c.4608G>T (p.Met1536Ile) n.199G>T c.278G>T c.*3214G>T (n.*3214G>T) c.2865G>T (p.Met955Ile) c.4722G>T (p.Met1574Ile) c.4749G>T (p.Met1583Ile) c.4635G>T (p.Met1545Ile) c.4765G>T (p.Gly1589Cys) n.4995G>T n.5011G>T c.2979G>T (p.Met993Ile) c.2262G>T (p.Met754Ile) | gnomAD v4 |
11 | g.68448831G>A | CA6150462 | LRP5 | c.4609G>A (p.Ala1537Thr) n.200G>A c.279G>A c.*3215G>A (n.*3215G>A) c.2866G>A (p.Ala956Thr) c.4723G>A (p.Ala1575Thr) c.4750G>A (p.Ala1584Thr) c.4636G>A (p.Ala1546Thr) c.4766G>A (p.Gly1589Asp) n.4996G>A n.5012G>A c.2980G>A (p.Ala994Thr) c.2263G>A (p.Ala755Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68448831G>C | CA381617867 | LRP5 | c.4609G>C (p.Ala1537Pro) n.200G>C c.279G>C c.*3215G>C (n.*3215G>C) c.2866G>C (p.Ala956Pro) c.4723G>C (p.Ala1575Pro) c.4750G>C (p.Ala1584Pro) c.4636G>C (p.Ala1546Pro) c.4766G>C (p.Gly1589Ala) n.4996G>C n.5012G>C c.2980G>C (p.Ala994Pro) c.2263G>C (p.Ala755Pro) | |
11 | g.68448831G= | CA1980666858 | LRP5 | c.4609G= (p.Ala1537=) n.200G= c.279G= c.*3215G= (n.*3215G=) c.2866G= (p.Ala956=) c.4723G= (p.Ala1575=) c.4750G= (p.Ala1584=) c.4636G= (p.Ala1546=) c.4766G= (p.Gly1589=) n.4996G= n.5012G= c.2980G= (p.Ala994=) c.2263G= (p.Ala755=) | |
11 | g.68448831G>T | CA381617869 | LRP5 | c.4609G>T (p.Ala1537Ser) n.200G>T c.279G>T c.*3215G>T (n.*3215G>T) c.2866G>T (p.Ala956Ser) c.4723G>T (p.Ala1575Ser) c.4750G>T (p.Ala1584Ser) c.4636G>T (p.Ala1546Ser) c.4766G>T (p.Gly1589Val) n.4996G>T n.5012G>T c.2980G>T (p.Ala994Ser) c.2263G>T (p.Ala755Ser) | gnomAD v4 |
11 | g.68448832C>A | CA381617871 | LRP5 | c.4610C>A (p.Ala1537Glu) n.201C>A c.280C>A c.*3216C>A (n.*3216C>A) c.2867C>A (p.Ala956Glu) c.4724C>A (p.Ala1575Glu) c.4751C>A (p.Ala1584Glu) c.4637C>A (p.Ala1546Glu) c.4767C>A (p.Gly1589=) n.4997C>A n.5013C>A c.2981C>A (p.Ala994Glu) c.2264C>A (p.Ala755Glu) | |
11 | g.68448832C= | CA1980666863 | LRP5 | c.4610C= (p.Ala1537=) n.201C= c.280C= c.*3216C= (n.*3216C=) c.2867C= (p.Ala956=) c.4724C= (p.Ala1575=) c.4751C= (p.Ala1584=) c.4637C= (p.Ala1546=) c.4767C= (p.Gly1589=) n.4997C= n.5013C= c.2981C= (p.Ala994=) c.2264C= (p.Ala755=) | |
11 | g.68448832C>G | CA381617873 | LRP5 | c.4610C>G (p.Ala1537Gly) n.201C>G c.280C>G c.*3216C>G (n.*3216C>G) c.2867C>G (p.Ala956Gly) c.4724C>G (p.Ala1575Gly) c.4751C>G (p.Ala1584Gly) c.4637C>G (p.Ala1546Gly) c.4767C>G (p.Gly1589=) n.4997C>G n.5013C>G c.2981C>G (p.Ala994Gly) c.2264C>G (p.Ala755Gly) | |
11 | g.68448832C>T | CA6150463 | LRP5 | c.4610C>T (p.Ala1537Val) n.201C>T c.280C>T c.*3216C>T (n.*3216C>T) c.2867C>T (p.Ala956Val) c.4724C>T (p.Ala1575Val) c.4751C>T (p.Ala1584Val) c.4637C>T (p.Ala1546Val) c.4767C>T (p.Gly1589=) n.4997C>T n.5013C>T c.2981C>T (p.Ala994Val) c.2264C>T (p.Ala755Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68448833G>A | CA6150464 | LRP5 | c.4611G>A (p.Ala1537=) n.202G>A c.281G>A c.*3217G>A (n.*3217G>A) c.2868G>A (p.Ala956=) c.4725G>A (p.Ala1575=) c.4752G>A (p.Ala1584=) c.4638G>A (p.Ala1546=) c.4768G>A (p.Ala1590Thr) n.4998G>A n.5014G>A c.2982G>A (p.Ala994=) c.2265G>A (p.Ala755=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68448833G>C | CA475462509 | LRP5 | c.4611G>C (p.Ala1537=) n.202G>C c.281G>C c.*3217G>C (n.*3217G>C) c.2868G>C (p.Ala956=) c.4725G>C (p.Ala1575=) c.4752G>C (p.Ala1584=) c.4638G>C (p.Ala1546=) c.4768G>C (p.Ala1590Pro) n.4998G>C n.5014G>C c.2982G>C (p.Ala994=) c.2265G>C (p.Ala755=) | |
11 | g.68448833G= | CA1980666867 | LRP5 | c.4611G= (p.Ala1537=) n.202G= c.281G= c.*3217G= (n.*3217G=) c.2868G= (p.Ala956=) c.4725G= (p.Ala1575=) c.4752G= (p.Ala1584=) c.4638G= (p.Ala1546=) c.4768G= (p.Ala1590=) n.4998G= n.5014G= c.2982G= (p.Ala994=) c.2265G= (p.Ala755=) | |
11 | g.68448833G>T | CA475462508 | LRP5 | c.4611G>T (p.Ala1537=) n.202G>T c.281G>T c.*3217G>T (n.*3217G>T) c.2868G>T (p.Ala956=) c.4725G>T (p.Ala1575=) c.4752G>T (p.Ala1584=) c.4638G>T (p.Ala1546=) c.4768G>T (p.Ala1590Ser) n.4998G>T n.5014G>T c.2982G>T (p.Ala994=) c.2265G>T (p.Ala755=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68448834C>A | CA381617877 | LRP5 | c.4612C>A (p.Pro1538Thr) n.203C>A c.282C>A c.*3218C>A (n.*3218C>A) c.2869C>A (p.Pro957Thr) c.4726C>A (p.Pro1576Thr) c.4753C>A (p.Pro1585Thr) c.4639C>A (p.Pro1547Thr) c.4769C>A (p.Ala1590Asp) n.4999C>A n.5015C>A c.2983C>A (p.Pro995Thr) c.2266C>A (p.Pro756Thr) | |
11 | g.68448834C= | CA1980666872 | LRP5 | c.4612C= (p.Pro1538=) n.203C= c.282C= c.*3218C= (n.*3218C=) c.2869C= (p.Pro957=) c.4726C= (p.Pro1576=) c.4753C= (p.Pro1585=) c.4639C= (p.Pro1547=) c.4769C= (p.Ala1590=) n.4999C= n.5015C= c.2983C= (p.Pro995=) c.2266C= (p.Pro756=) | |
11 | g.68448834C>G | CA381617879 | LRP5 | c.4612C>G (p.Pro1538Ala) n.203C>G c.282C>G c.*3218C>G (n.*3218C>G) c.2869C>G (p.Pro957Ala) c.4726C>G (p.Pro1576Ala) c.4753C>G (p.Pro1585Ala) c.4639C>G (p.Pro1547Ala) c.4769C>G (p.Ala1590Gly) n.4999C>G n.5015C>G c.2983C>G (p.Pro995Ala) c.2266C>G (p.Pro756Ala) | |
11 | g.68448834C>T | CA381617881 | LRP5 | c.4612C>T (p.Pro1538Ser) n.203C>T c.282C>T c.*3218C>T (n.*3218C>T) c.2869C>T (p.Pro957Ser) c.4726C>T (p.Pro1576Ser) c.4753C>T (p.Pro1585Ser) c.4639C>T (p.Pro1547Ser) c.4769C>T (p.Ala1590Val) n.4999C>T n.5015C>T c.2983C>T (p.Pro995Ser) c.2266C>T (p.Pro756Ser) | dbSNP gnomAD v4 |
11 | g.68448838dup | CA2792543545 | LRP5 | c.4616dup (p.Thr1540AspfsTer10) n.207dup c.286dup c.*3222dup (n.*3222dup) c.2873dup (p.Thr959AspfsTer10) c.4730dup (p.Thr1578AspfsTer10) c.4757dup (p.Thr1587AspfsTer10) c.4643dup (p.Thr1549AspfsTer10) c.4773dup (p.Asp1592ArgfsTer28) n.5003dup n.5019dup c.2987dup (p.Thr997AspfsTer10) c.2270dup (p.Thr758AspfsTer10) | |
11 | g.68448838del | CA2614718075 | LRP5 | c.4616del (p.Pro1539ArgfsTer28) n.207del c.286del c.*3222del (n.*3222del) c.2873del (p.Pro958ArgfsTer28) c.4730del (p.Pro1577ArgfsTer28) c.4757del (p.Pro1586ArgfsTer28) c.4643del (p.Pro1548ArgfsTer28) c.4773del (p.Asp1592ThrfsTer?) n.5003del n.5019del c.2987del (p.Pro996ArgfsTer28) c.2270del (p.Pro757ArgfsTer28) | gnomAD v4 |
11 | g.68448835C>A | CA381617883 | LRP5 | c.4613C>A (p.Pro1538His) n.204C>A c.283C>A c.*3219C>A (n.*3219C>A) c.2870C>A (p.Pro957His) c.4727C>A (p.Pro1576His) c.4754C>A (p.Pro1585His) c.4640C>A (p.Pro1547His) c.4770C>A (p.Ala1590=) n.5000C>A n.5016C>A c.2984C>A (p.Pro995His) c.2267C>A (p.Pro756His) | dbSNP |
11 | g.68448835C= | CA1980666876 | LRP5 | c.4613C= (p.Pro1538=) n.204C= c.283C= c.*3219C= (n.*3219C=) c.2870C= (p.Pro957=) c.4727C= (p.Pro1576=) c.4754C= (p.Pro1585=) c.4640C= (p.Pro1547=) c.4770C= (p.Ala1590=) n.5000C= n.5016C= c.2984C= (p.Pro995=) c.2267C= (p.Pro756=) | |
11 | g.68448835C>G | CA6150465 | LRP5 | c.4613C>G (p.Pro1538Arg) n.204C>G c.283C>G c.*3219C>G (n.*3219C>G) c.2870C>G (p.Pro957Arg) c.4727C>G (p.Pro1576Arg) c.4754C>G (p.Pro1585Arg) c.4640C>G (p.Pro1547Arg) c.4770C>G (p.Ala1590=) n.5000C>G n.5016C>G c.2984C>G (p.Pro995Arg) c.2267C>G (p.Pro756Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68448835C>T | CA381617886 | LRP5 | c.4613C>T (p.Pro1538Leu) n.204C>T c.283C>T c.*3219C>T (n.*3219C>T) c.2870C>T (p.Pro957Leu) c.4727C>T (p.Pro1576Leu) c.4754C>T (p.Pro1585Leu) c.4640C>T (p.Pro1547Leu) c.4770C>T (p.Ala1590=) n.5000C>T n.5016C>T c.2984C>T (p.Pro995Leu) c.2267C>T (p.Pro756Leu) | gnomAD v4 |
11 | g.68448836C>A | CA475462510 | LRP5 | c.4614C>A (p.Pro1538=) n.205C>A c.284C>A c.*3220C>A (n.*3220C>A) c.2871C>A (p.Pro957=) c.4728C>A (p.Pro1576=) c.4755C>A (p.Pro1585=) c.4641C>A (p.Pro1547=) c.4771C>A (p.Pro1591Thr) n.5001C>A n.5017C>A c.2985C>A (p.Pro995=) c.2268C>A (p.Pro756=) | |
11 | g.68448836C= | CA1980666880 | LRP5 | c.4614C= (p.Pro1538=) n.205C= c.284C= c.*3220C= (n.*3220C=) c.2871C= (p.Pro957=) c.4728C= (p.Pro1576=) c.4755C= (p.Pro1585=) c.4641C= (p.Pro1547=) c.4771C= (p.Pro1591=) n.5001C= n.5017C= c.2985C= (p.Pro995=) c.2268C= (p.Pro756=) | |
11 | g.68448836C>G | CA475462511 | LRP5 | c.4614C>G (p.Pro1538=) n.205C>G c.284C>G c.*3220C>G (n.*3220C>G) c.2871C>G (p.Pro957=) c.4728C>G (p.Pro1576=) c.4755C>G (p.Pro1585=) c.4641C>G (p.Pro1547=) c.4771C>G (p.Pro1591Ala) n.5001C>G n.5017C>G c.2985C>G (p.Pro995=) c.2268C>G (p.Pro756=) | |
11 | g.68448836C>T | CA475462512 | LRP5 | c.4614C>T (p.Pro1538=) n.205C>T c.284C>T c.*3220C>T (n.*3220C>T) c.2871C>T (p.Pro957=) c.4728C>T (p.Pro1576=) c.4755C>T (p.Pro1585=) c.4641C>T (p.Pro1547=) c.4771C>T (p.Pro1591Ser) n.5001C>T n.5017C>T c.2985C>T (p.Pro995=) c.2268C>T (p.Pro756=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.68448837C>A | CA381617890 | LRP5 | c.4615C>A (p.Pro1539Thr) n.206C>A c.285C>A c.*3221C>A (n.*3221C>A) c.2872C>A (p.Pro958Thr) c.4729C>A (p.Pro1577Thr) c.4756C>A (p.Pro1586Thr) c.4642C>A (p.Pro1548Thr) c.4772C>A (p.Pro1591His) n.5002C>A n.5018C>A c.2986C>A (p.Pro996Thr) c.2269C>A (p.Pro757Thr) | gnomAD v4 |
11 | g.68448837C= | CA1980666882 | LRP5 | c.4615C= (p.Pro1539=) n.206C= c.285C= c.*3221C= (n.*3221C=) c.2872C= (p.Pro958=) c.4729C= (p.Pro1577=) c.4756C= (p.Pro1586=) c.4642C= (p.Pro1548=) c.4772C= (p.Pro1591=) n.5002C= n.5018C= c.2986C= (p.Pro996=) c.2269C= (p.Pro757=) | |
11 | g.68448837C>G | CA224260683 | LRP5 | c.4615C>G (p.Pro1539Ala) n.206C>G c.285C>G c.*3221C>G (n.*3221C>G) c.2872C>G (p.Pro958Ala) c.4729C>G (p.Pro1577Ala) c.4756C>G (p.Pro1586Ala) c.4642C>G (p.Pro1548Ala) c.4772C>G (p.Pro1591Arg) n.5002C>G n.5018C>G c.2986C>G (p.Pro996Ala) c.2269C>G (p.Pro757Ala) | dbSNP gnomAD v4 |
11 | g.68448837C>T | CA381617888 | LRP5 | c.4615C>T (p.Pro1539Ser) n.206C>T c.285C>T c.*3221C>T (n.*3221C>T) c.2872C>T (p.Pro958Ser) c.4729C>T (p.Pro1577Ser) c.4756C>T (p.Pro1586Ser) c.4642C>T (p.Pro1548Ser) c.4772C>T (p.Pro1591Leu) n.5002C>T n.5018C>T c.2986C>T (p.Pro996Ser) c.2269C>T (p.Pro757Ser) | |
11 | g.68448838C>A | CA381617892 | LRP5 | c.4616C>A (p.Pro1539Gln) n.207C>A c.286C>A c.*3222C>A (n.*3222C>A) c.2873C>A (p.Pro958Gln) c.4730C>A (p.Pro1577Gln) c.4757C>A (p.Pro1586Gln) c.4643C>A (p.Pro1548Gln) c.4773C>A (p.Pro1591=) n.5003C>A n.5019C>A c.2987C>A (p.Pro996Gln) c.2270C>A (p.Pro757Gln) | |
11 | g.68448838C= | CA1980666884 | LRP5 | c.4616C= (p.Pro1539=) n.207C= c.286C= c.*3222C= (n.*3222C=) c.2873C= (p.Pro958=) c.4730C= (p.Pro1577=) c.4757C= (p.Pro1586=) c.4643C= (p.Pro1548=) c.4773C= (p.Pro1591=) n.5003C= n.5019C= c.2987C= (p.Pro996=) c.2270C= (p.Pro757=) | |
11 | g.68448838C>G | CA381617894 | LRP5 | c.4616C>G (p.Pro1539Arg) n.207C>G c.286C>G c.*3222C>G (n.*3222C>G) c.2873C>G (p.Pro958Arg) c.4730C>G (p.Pro1577Arg) c.4757C>G (p.Pro1586Arg) c.4643C>G (p.Pro1548Arg) c.4773C>G (p.Pro1591=) n.5003C>G n.5019C>G c.2987C>G (p.Pro996Arg) c.2270C>G (p.Pro757Arg) | |
11 | g.68448838C>T | CA6150466 | LRP5 | c.4616C>T (p.Pro1539Leu) n.207C>T c.286C>T c.*3222C>T (n.*3222C>T) c.2873C>T (p.Pro958Leu) c.4730C>T (p.Pro1577Leu) c.4757C>T (p.Pro1586Leu) c.4643C>T (p.Pro1548Leu) c.4773C>T (p.Pro1591=) n.5003C>T n.5019C>T c.2987C>T (p.Pro996Leu) c.2270C>T (p.Pro757Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68448839G>A | CA475462513 | LRP5 | c.4617G>A (p.Pro1539=) n.208G>A c.287G>A c.*3223G>A (n.*3223G>A) c.2874G>A (p.Pro958=) c.4731G>A (p.Pro1577=) c.4758G>A (p.Pro1586=) c.4644G>A (p.Pro1548=) c.4774G>A (p.Asp1592Asn) n.5004G>A n.5020G>A c.2988G>A (p.Pro996=) c.2271G>A (p.Pro757=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.68448839G>C | CA475462514 | LRP5 | c.4617G>C (p.Pro1539=) n.208G>C c.287G>C c.*3223G>C (n.*3223G>C) c.2874G>C (p.Pro958=) c.4731G>C (p.Pro1577=) c.4758G>C (p.Pro1586=) c.4644G>C (p.Pro1548=) c.4774G>C (p.Asp1592His) n.5004G>C n.5020G>C c.2988G>C (p.Pro996=) c.2271G>C (p.Pro757=) | |
11 | g.68448839G= | CA1980666889 | LRP5 | c.4617G= (p.Pro1539=) n.208G= c.287G= c.*3223G= (n.*3223G=) c.2874G= (p.Pro958=) c.4731G= (p.Pro1577=) c.4758G= (p.Pro1586=) c.4644G= (p.Pro1548=) c.4774G= (p.Asp1592=) n.5004G= n.5020G= c.2988G= (p.Pro996=) c.2271G= (p.Pro757=) | |
11 | g.68448839G>T | CA475462515 | LRP5 | c.4617G>T (p.Pro1539=) n.208G>T c.287G>T c.*3223G>T (n.*3223G>T) c.2874G>T (p.Pro958=) c.4731G>T (p.Pro1577=) c.4758G>T (p.Pro1586=) c.4644G>T (p.Pro1548=) c.4774G>T (p.Asp1592Tyr) n.5004G>T n.5020G>T c.2988G>T (p.Pro996=) c.2271G>T (p.Pro757=) | |
11 | g.68448840A>C | CA381617897 | LRP5 | c.4618A>C (p.Thr1540Pro) n.209A>C c.288A>C c.*3224A>C (n.*3224A>C) c.2875A>C (p.Thr959Pro) c.4732A>C (p.Thr1578Pro) c.4759A>C (p.Thr1587Pro) c.4645A>C (p.Thr1549Pro) c.4775A>C (p.Asp1592Ala) n.5005A>C n.5021A>C c.2989A>C (p.Thr997Pro) c.2272A>C (p.Thr758Pro) | |
11 | g.68448840A>G | CA381617899 | LRP5 | c.4618A>G (p.Thr1540Ala) n.209A>G c.288A>G c.*3224A>G (n.*3224A>G) c.2875A>G (p.Thr959Ala) c.4732A>G (p.Thr1578Ala) c.4759A>G (p.Thr1587Ala) c.4645A>G (p.Thr1549Ala) c.4775A>G (p.Asp1592Gly) n.5005A>G n.5021A>G c.2989A>G (p.Thr997Ala) c.2272A>G (p.Thr758Ala) | |
11 | g.68448840A>T | CA381617900 | LRP5 | c.4618A>T (p.Thr1540Ser) n.209A>T c.288A>T c.*3224A>T (n.*3224A>T) c.2875A>T (p.Thr959Ser) c.4732A>T (p.Thr1578Ser) c.4759A>T (p.Thr1587Ser) c.4645A>T (p.Thr1549Ser) c.4775A>T (p.Asp1592Val) n.5005A>T n.5021A>T c.2989A>T (p.Thr997Ser) c.2272A>T (p.Thr758Ser) | |
11 | g.68448841C>A | CA381617903 | LRP5 | c.4619C>A (p.Thr1540Lys) n.210C>A c.289C>A c.*3225C>A (n.*3225C>A) c.2876C>A (p.Thr959Lys) c.4733C>A (p.Thr1578Lys) c.4760C>A (p.Thr1587Lys) c.4646C>A (p.Thr1549Lys) c.4776C>A (p.Asp1592Glu) n.5006C>A n.5022C>A c.2990C>A (p.Thr997Lys) c.2273C>A (p.Thr758Lys) | |
11 | g.68448841C= | CA1980656655 | LRP5 | c.4619C= (p.Thr1540=) n.210C= c.289C= c.*3225C= (n.*3225C=) c.2876C= (p.Thr959=) c.4733C= (p.Thr1578=) c.4760C= (p.Thr1587=) c.4646C= (p.Thr1549=) c.4776C= (p.Asp1592=) n.5006C= n.5022C= c.2990C= (p.Thr997=) c.2273C= (p.Thr758=) | |
11 | g.68448841C>G | CA381617905 | LRP5 | c.4619C>G (p.Thr1540Arg) n.210C>G c.289C>G c.*3225C>G (n.*3225C>G) c.2876C>G (p.Thr959Arg) c.4733C>G (p.Thr1578Arg) c.4760C>G (p.Thr1587Arg) c.4646C>G (p.Thr1549Arg) c.4776C>G (p.Asp1592Glu) n.5006C>G n.5022C>G c.2990C>G (p.Thr997Arg) c.2273C>G (p.Thr758Arg) | |
11 | g.68448841C>T | CA6150467 | LRP5 | c.4619C>T (p.Thr1540Met) n.210C>T c.289C>T c.*3225C>T (n.*3225C>T) c.2876C>T (p.Thr959Met) c.4733C>T (p.Thr1578Met) c.4760C>T (p.Thr1587Met) c.4646C>T (p.Thr1549Met) c.4776C>T (p.Asp1592=) n.5006C>T n.5022C>T c.2990C>T (p.Thr997Met) c.2273C>T (p.Thr758Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68448846_68448861dup | CA2695214936 | LRP5 | c.4624_4639dup (p.Val1547AlafsTer8) n.215_230dup c.294_309dup c.*3230_*3245dup (n.*3230_*3245dup) c.2881_2896dup (p.Val966AlafsTer8) c.4738_4753dup (p.Val1585AlafsTer8) c.4765_4780dup (p.Val1594AlafsTer8) c.4651_4666dup (p.Val1556AlafsTer8) c.4781_4796dup (p.Val1600ProfsTer25) n.5011_5026dup n.5027_5042dup c.2995_3010dup (p.Val1004AlafsTer8) c.2278_2293dup (p.Val765AlafsTer8) | |
11 | g.68448842G>A | CA6150468 | LRP5 | c.4620G>A (p.Thr1540=) n.211G>A c.290G>A c.*3226G>A (n.*3226G>A) c.2877G>A (p.Thr959=) c.4734G>A (p.Thr1578=) c.4761G>A (p.Thr1587=) c.4647G>A (p.Thr1549=) c.4777G>A (p.Asp1593Asn) n.5007G>A n.5023G>A c.2991G>A (p.Thr997=) c.2274G>A (p.Thr758=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68448842G>C | CA475462516 | LRP5 | c.4620G>C (p.Thr1540=) n.211G>C c.290G>C c.*3226G>C (n.*3226G>C) c.2877G>C (p.Thr959=) c.4734G>C (p.Thr1578=) c.4761G>C (p.Thr1587=) c.4647G>C (p.Thr1549=) c.4777G>C (p.Asp1593His) n.5007G>C n.5023G>C c.2991G>C (p.Thr997=) c.2274G>C (p.Thr758=) | |
11 | g.68448842G= | CA1980656656 | LRP5 | c.4620G= (p.Thr1540=) n.211G= c.290G= c.*3226G= (n.*3226G=) c.2877G= (p.Thr959=) c.4734G= (p.Thr1578=) c.4761G= (p.Thr1587=) c.4647G= (p.Thr1549=) c.4777G= (p.Asp1593=) n.5007G= n.5023G= c.2991G= (p.Thr997=) c.2274G= (p.Thr758=) | |
11 | g.68448842G>T | CA475462517 | LRP5 | c.4620G>T (p.Thr1540=) n.211G>T c.290G>T c.*3226G>T (n.*3226G>T) c.2877G>T (p.Thr959=) c.4734G>T (p.Thr1578=) c.4761G>T (p.Thr1587=) c.4647G>T (p.Thr1549=) c.4777G>T (p.Asp1593Tyr) n.5007G>T n.5023G>T c.2991G>T (p.Thr997=) c.2274G>T (p.Thr758=) | gnomAD v4 |
11 | g.68448843A>C | CA381617909 | LRP5 | c.4621A>C (p.Thr1541Pro) n.212A>C c.291A>C c.*3227A>C (n.*3227A>C) c.2878A>C (p.Thr960Pro) c.4735A>C (p.Thr1579Pro) c.4762A>C (p.Thr1588Pro) c.4648A>C (p.Thr1550Pro) c.4778A>C (p.Asp1593Ala) n.5008A>C n.5024A>C c.2992A>C (p.Thr998Pro) c.2275A>C (p.Thr759Pro) | gnomAD v4 |
11 | g.68448843A>G | CA381617910 | LRP5 | c.4621A>G (p.Thr1541Ala) n.212A>G c.291A>G c.*3227A>G (n.*3227A>G) c.2878A>G (p.Thr960Ala) c.4735A>G (p.Thr1579Ala) c.4762A>G (p.Thr1588Ala) c.4648A>G (p.Thr1550Ala) c.4778A>G (p.Asp1593Gly) n.5008A>G n.5024A>G c.2992A>G (p.Thr998Ala) c.2275A>G (p.Thr759Ala) | |
11 | g.68448843A>T | CA381617912 | LRP5 | c.4621A>T (p.Thr1541Ser) n.212A>T c.291A>T c.*3227A>T (n.*3227A>T) c.2878A>T (p.Thr960Ser) c.4735A>T (p.Thr1579Ser) c.4762A>T (p.Thr1588Ser) c.4648A>T (p.Thr1550Ser) c.4778A>T (p.Asp1593Val) n.5008A>T n.5024A>T c.2992A>T (p.Thr998Ser) c.2275A>T (p.Thr759Ser) | |
11 | g.68448844C>A | CA381617914 | LRP5 | c.4622C>A (p.Thr1541Lys) n.213C>A c.292C>A c.*3228C>A (n.*3228C>A) c.2879C>A (p.Thr960Lys) c.4736C>A (p.Thr1579Lys) c.4763C>A (p.Thr1588Lys) c.4649C>A (p.Thr1550Lys) c.4779C>A (p.Asp1593Glu) n.5009C>A n.5025C>A c.2993C>A (p.Thr998Lys) c.2276C>A (p.Thr759Lys) | |
11 | g.68448844C= | CA1980656663 | LRP5 | c.4622C= (p.Thr1541=) n.213C= c.292C= c.*3228C= (n.*3228C=) c.2879C= (p.Thr960=) c.4736C= (p.Thr1579=) c.4763C= (p.Thr1588=) c.4649C= (p.Thr1550=) c.4779C= (p.Asp1593=) n.5009C= n.5025C= c.2993C= (p.Thr998=) c.2276C= (p.Thr759=) | |
11 | g.68448844C>G | CA6150469 | LRP5 | c.4622C>G (p.Thr1541Arg) n.213C>G c.292C>G c.*3228C>G (n.*3228C>G) c.2879C>G (p.Thr960Arg) c.4736C>G (p.Thr1579Arg) c.4763C>G (p.Thr1588Arg) c.4649C>G (p.Thr1550Arg) c.4779C>G (p.Asp1593Glu) n.5009C>G n.5025C>G c.2993C>G (p.Thr998Arg) c.2276C>G (p.Thr759Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68448844C>T | CA6150470 | LRP5 | c.4622C>T (p.Thr1541Met) n.213C>T c.292C>T c.*3228C>T (n.*3228C>T) c.2879C>T (p.Thr960Met) c.4736C>T (p.Thr1579Met) c.4763C>T (p.Thr1588Met) c.4649C>T (p.Thr1550Met) c.4779C>T (p.Asp1593=) n.5009C>T n.5025C>T c.2993C>T (p.Thr998Met) c.2276C>T (p.Thr759Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.68448845G>A | CA6150471 | LRP5 | c.4623G>A (p.Thr1541=) n.214G>A c.293G>A c.*3229G>A (n.*3229G>A) c.2880G>A (p.Thr960=) c.4737G>A (p.Thr1579=) c.4764G>A (p.Thr1588=) c.4650G>A (p.Thr1550=) c.4780G>A (p.Ala1594Thr) n.5010G>A n.5026G>A c.2994G>A (p.Thr998=) c.2277G>A (p.Thr759=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.68448845G>C | CA475462518 | LRP5 | c.4623G>C (p.Thr1541=) n.214G>C c.293G>C c.*3229G>C (n.*3229G>C) c.2880G>C (p.Thr960=) c.4737G>C (p.Thr1579=) c.4764G>C (p.Thr1588=) c.4650G>C (p.Thr1550=) c.4780G>C (p.Ala1594Pro) n.5010G>C n.5026G>C c.2994G>C (p.Thr998=) c.2277G>C (p.Thr759=) | |
11 | g.68448845G= | CA1980656666 | LRP5 | c.4623G= (p.Thr1541=) n.214G= c.293G= c.*3229G= (n.*3229G=) c.2880G= (p.Thr960=) c.4737G= (p.Thr1579=) c.4764G= (p.Thr1588=) c.4650G= (p.Thr1550=) c.4780G= (p.Ala1594=) n.5010G= n.5026G= c.2994G= (p.Thr998=) c.2277G= (p.Thr759=) | |
11 | g.68448845G>T | CA475462519 | LRP5 | c.4623G>T (p.Thr1541=) n.214G>T c.293G>T c.*3229G>T (n.*3229G>T) c.2880G>T (p.Thr960=) c.4737G>T (p.Thr1579=) c.4764G>T (p.Thr1588=) c.4650G>T (p.Thr1550=) c.4780G>T (p.Ala1594Ser) n.5010G>T n.5026G>T c.2994G>T (p.Thr998=) c.2277G>T (p.Thr759=) | gnomAD v4 |
11 | g.68448846C>A | CA381617918 | LRP5 | c.4624C>A (p.Pro1542Thr) n.215C>A c.294C>A c.*3230C>A (n.*3230C>A) c.2881C>A (p.Pro961Thr) c.4738C>A (p.Pro1580Thr) c.4765C>A (p.Pro1589Thr) c.4651C>A (p.Pro1551Thr) c.4781C>A (p.Ala1594Asp) n.5011C>A n.5027C>A c.2995C>A (p.Pro999Thr) c.2278C>A (p.Pro760Thr) | |
11 | g.68448846C>G | CA381617920 | LRP5 | c.4624C>G (p.Pro1542Ala) n.215C>G c.294C>G c.*3230C>G (n.*3230C>G) c.2881C>G (p.Pro961Ala) c.4738C>G (p.Pro1580Ala) c.4765C>G (p.Pro1589Ala) c.4651C>G (p.Pro1551Ala) c.4781C>G (p.Ala1594Gly) n.5011C>G n.5027C>G c.2995C>G (p.Pro999Ala) c.2278C>G (p.Pro760Ala) | |
11 | g.68448846C>T | CA381617922 | LRP5 | c.4624C>T (p.Pro1542Ser) n.215C>T c.294C>T c.*3230C>T (n.*3230C>T) c.2881C>T (p.Pro961Ser) c.4738C>T (p.Pro1580Ser) c.4765C>T (p.Pro1589Ser) c.4651C>T (p.Pro1551Ser) c.4781C>T (p.Ala1594Val) n.5011C>T n.5027C>T c.2995C>T (p.Pro999Ser) c.2278C>T (p.Pro760Ser) | gnomAD v4 |
11 | g.68448847C>A | CA381617924 | LRP5 | c.4625C>A (p.Pro1542His) n.216C>A c.295C>A c.*3231C>A (n.*3231C>A) c.2882C>A (p.Pro961His) c.4739C>A (p.Pro1580His) c.4766C>A (p.Pro1589His) c.4652C>A (p.Pro1551His) c.4782C>A (p.Ala1594=) n.5012C>A n.5028C>A c.2996C>A (p.Pro999His) c.2279C>A (p.Pro760His) | |
11 | g.68448847C>G | CA381617925 | LRP5 | c.4625C>G (p.Pro1542Arg) n.216C>G c.295C>G c.*3231C>G (n.*3231C>G) c.2882C>G (p.Pro961Arg) c.4739C>G (p.Pro1580Arg) c.4766C>G (p.Pro1589Arg) c.4652C>G (p.Pro1551Arg) c.4782C>G (p.Ala1594=) n.5012C>G n.5028C>G c.2996C>G (p.Pro999Arg) c.2279C>G (p.Pro760Arg) | |
11 | g.68448847C>T | CA381617928 | LRP5 | c.4625C>T (p.Pro1542Leu) n.216C>T c.295C>T c.*3231C>T (n.*3231C>T) c.2882C>T (p.Pro961Leu) c.4739C>T (p.Pro1580Leu) c.4766C>T (p.Pro1589Leu) c.4652C>T (p.Pro1551Leu) c.4782C>T (p.Ala1594=) n.5012C>T n.5028C>T c.2996C>T (p.Pro999Leu) c.2279C>T (p.Pro760Leu) | |
11 | g.68448848C>A | CA475462520 | LRP5 | c.4626C>A (p.Pro1542=) n.217C>A c.296C>A c.*3232C>A (n.*3232C>A) c.2883C>A (p.Pro961=) c.4740C>A (p.Pro1580=) c.4767C>A (p.Pro1589=) c.4653C>A (p.Pro1551=) c.4783C>A (p.Leu1595Met) n.5013C>A n.5029C>A c.2997C>A (p.Pro999=) c.2280C>A (p.Pro760=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68448848C= | CA1980656667 | LRP5 | c.4626C= (p.Pro1542=) n.217C= c.296C= c.*3232C= (n.*3232C=) c.2883C= (p.Pro961=) c.4740C= (p.Pro1580=) c.4767C= (p.Pro1589=) c.4653C= (p.Pro1551=) c.4783C= (p.Leu1595=) n.5013C= n.5029C= c.2997C= (p.Pro999=) c.2280C= (p.Pro760=) | |
11 | g.68448848C>G | CA475462521 | LRP5 | c.4626C>G (p.Pro1542=) n.217C>G c.296C>G c.*3232C>G (n.*3232C>G) c.2883C>G (p.Pro961=) c.4740C>G (p.Pro1580=) c.4767C>G (p.Pro1589=) c.4653C>G (p.Pro1551=) c.4783C>G (p.Leu1595Val) n.5013C>G n.5029C>G c.2997C>G (p.Pro999=) c.2280C>G (p.Pro760=) | |
11 | g.68448848C>T | CA475462522 | LRP5 | c.4626C>T (p.Pro1542=) n.217C>T c.296C>T c.*3232C>T (n.*3232C>T) c.2883C>T (p.Pro961=) c.4740C>T (p.Pro1580=) c.4767C>T (p.Pro1589=) c.4653C>T (p.Pro1551=) c.4783C>T (p.Leu1595=) n.5013C>T n.5029C>T c.2997C>T (p.Pro999=) c.2280C>T (p.Pro760=) | |
11 | g.68448849T>A | CA381617930 | LRP5 | c.4627T>A (p.Cys1543Ser) n.218T>A c.297T>A c.*3233T>A (n.*3233T>A) c.2884T>A (p.Cys962Ser) c.4741T>A (p.Cys1581Ser) c.4768T>A (p.Cys1590Ser) c.4654T>A (p.Cys1552Ser) c.4784T>A (p.Leu1595Gln) n.5014T>A n.5030T>A c.2998T>A (p.Cys1000Ser) c.2281T>A (p.Cys761Ser) | gnomAD v4 |
11 | g.68448849T>C | CA381617932 | LRP5 | c.4627T>C (p.Cys1543Arg) n.218T>C c.297T>C c.*3233T>C (n.*3233T>C) c.2884T>C (p.Cys962Arg) c.4741T>C (p.Cys1581Arg) c.4768T>C (p.Cys1590Arg) c.4654T>C (p.Cys1552Arg) c.4784T>C (p.Leu1595Pro) n.5014T>C n.5030T>C c.2998T>C (p.Cys1000Arg) c.2281T>C (p.Cys761Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68448849T>G | CA381617933 | LRP5 | c.4627T>G (p.Cys1543Gly) n.218T>G c.297T>G c.*3233T>G (n.*3233T>G) c.2884T>G (p.Cys962Gly) c.4741T>G (p.Cys1581Gly) c.4768T>G (p.Cys1590Gly) c.4654T>G (p.Cys1552Gly) c.4784T>G (p.Leu1595Arg) n.5014T>G n.5030T>G c.2998T>G (p.Cys1000Gly) c.2281T>G (p.Cys761Gly) | |
11 | g.68448849T= | CA1980656669 | LRP5 | c.4627T= (p.Cys1543=) n.218T= c.297T= c.*3233T= (n.*3233T=) c.2884T= (p.Cys962=) c.4741T= (p.Cys1581=) c.4768T= (p.Cys1590=) c.4654T= (p.Cys1552=) c.4784T= (p.Leu1595=) n.5014T= n.5030T= c.2998T= (p.Cys1000=) c.2281T= (p.Cys761=) | |
11 | g.68448850G>A | CA381617936 | LRP5 | c.4628G>A (p.Cys1543Tyr) n.219G>A c.298G>A c.*3234G>A (n.*3234G>A) c.2885G>A (p.Cys962Tyr) c.4742G>A (p.Cys1581Tyr) c.4769G>A (p.Cys1590Tyr) c.4655G>A (p.Cys1552Tyr) c.4785G>A (p.Leu1595=) n.5015G>A n.5031G>A c.2999G>A (p.Cys1000Tyr) c.2282G>A (p.Cys761Tyr) | gnomAD v4 |
11 | g.68448850G>C | CA381617938 | LRP5 | c.4628G>C (p.Cys1543Ser) n.219G>C c.298G>C c.*3234G>C (n.*3234G>C) c.2885G>C (p.Cys962Ser) c.4742G>C (p.Cys1581Ser) c.4769G>C (p.Cys1590Ser) c.4655G>C (p.Cys1552Ser) c.4785G>C (p.Leu1595=) n.5015G>C n.5031G>C c.2999G>C (p.Cys1000Ser) c.2282G>C (p.Cys761Ser) | |
11 | g.68448850G>T | CA381617939 | LRP5 | c.4628G>T (p.Cys1543Phe) n.219G>T c.298G>T c.*3234G>T (n.*3234G>T) c.2885G>T (p.Cys962Phe) c.4742G>T (p.Cys1581Phe) c.4769G>T (p.Cys1590Phe) c.4655G>T (p.Cys1552Phe) c.4785G>T (p.Leu1595=) n.5015G>T n.5031G>T c.2999G>T (p.Cys1000Phe) c.2282G>T (p.Cys761Phe) | |
11 | g.68448851C>A | CA381617941 | LRP5 | c.4629C>A (p.Cys1543Ter) n.220C>A c.299C>A c.*3235C>A (n.*3235C>A) c.2886C>A (p.Cys962Ter) c.4743C>A (p.Cys1581Ter) c.4770C>A (p.Cys1590Ter) c.4656C>A (p.Cys1552Ter) c.4786C>A (p.Gln1596Lys) n.5016C>A n.5032C>A c.3000C>A (p.Cys1000Ter) c.2283C>A (p.Cys761Ter) | |
11 | g.68448851C= | CA1980656671 | LRP5 | c.4629C= (p.Cys1543=) n.220C= c.299C= c.*3235C= (n.*3235C=) c.2886C= (p.Cys962=) c.4743C= (p.Cys1581=) c.4770C= (p.Cys1590=) c.4656C= (p.Cys1552=) c.4786C= (p.Gln1596=) n.5016C= n.5032C= c.3000C= (p.Cys1000=) c.2283C= (p.Cys761=) | |
11 | g.68448851C>G | CA381617944 | LRP5 | c.4629C>G (p.Cys1543Trp) n.220C>G c.299C>G c.*3235C>G (n.*3235C>G) c.2886C>G (p.Cys962Trp) c.4743C>G (p.Cys1581Trp) c.4770C>G (p.Cys1590Trp) c.4656C>G (p.Cys1552Trp) c.4786C>G (p.Gln1596Glu) n.5016C>G n.5032C>G c.3000C>G (p.Cys1000Trp) c.2283C>G (p.Cys761Trp) | |
11 | g.68448851C>T | CA475462523 | LRP5 | c.4629C>T (p.Cys1543=) n.220C>T c.299C>T c.*3235C>T (n.*3235C>T) c.2886C>T (p.Cys962=) c.4743C>T (p.Cys1581=) c.4770C>T (p.Cys1590=) c.4656C>T (p.Cys1552=) c.4786C>T (p.Gln1596Ter) n.5016C>T n.5032C>T c.3000C>T (p.Cys1000=) c.2283C>T (p.Cys761=) | dbSNP gnomAD v4 |
11 | g.68448852A= | CA1980656672 | LRP5 | c.4630A= (p.Ser1544=) n.221A= c.300A= c.*3236A= (n.*3236A=) c.2887A= (p.Ser963=) c.4744A= (p.Ser1582=) c.4771A= (p.Ser1591=) c.4657A= (p.Ser1553=) c.4787A= (p.Gln1596=) n.5017A= n.5033A= c.3001A= (p.Ser1001=) c.2284A= (p.Ser762=) | |
11 | g.68448852A>C | CA381617945 | LRP5 | c.4630A>C (p.Ser1544Arg) n.221A>C c.300A>C c.*3236A>C (n.*3236A>C) c.2887A>C (p.Ser963Arg) c.4744A>C (p.Ser1582Arg) c.4771A>C (p.Ser1591Arg) c.4657A>C (p.Ser1553Arg) c.4787A>C (p.Gln1596Pro) n.5017A>C n.5033A>C c.3001A>C (p.Ser1001Arg) c.2284A>C (p.Ser762Arg) | gnomAD v4 |
11 | g.68448852A>G | CA381617949 | LRP5 | c.4630A>G (p.Ser1544Gly) n.221A>G c.300A>G c.*3236A>G (n.*3236A>G) c.2887A>G (p.Ser963Gly) c.4744A>G (p.Ser1582Gly) c.4771A>G (p.Ser1591Gly) c.4657A>G (p.Ser1553Gly) c.4787A>G (p.Gln1596Arg) n.5017A>G n.5033A>G c.3001A>G (p.Ser1001Gly) c.2284A>G (p.Ser762Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68448852A>T | CA381617947 | LRP5 | c.4630A>T (p.Ser1544Cys) n.221A>T c.300A>T c.*3236A>T (n.*3236A>T) c.2887A>T (p.Ser963Cys) c.4744A>T (p.Ser1582Cys) c.4771A>T (p.Ser1591Cys) c.4657A>T (p.Ser1553Cys) c.4787A>T (p.Gln1596Leu) n.5017A>T n.5033A>T c.3001A>T (p.Ser1001Cys) c.2284A>T (p.Ser762Cys) | |
11 | g.68448853G>A | CA381617951 | LRP5 | c.4631G>A (p.Ser1544Asn) n.222G>A c.301G>A c.*3237G>A (n.*3237G>A) c.2888G>A (p.Ser963Asn) c.4745G>A (p.Ser1582Asn) c.4772G>A (p.Ser1591Asn) c.4658G>A (p.Ser1553Asn) c.4788G>A (p.Gln1596=) n.5018G>A n.5034G>A c.3002G>A (p.Ser1001Asn) c.2285G>A (p.Ser762Asn) | |
11 | g.68448853G>C | CA381617953 | LRP5 | c.4631G>C (p.Ser1544Thr) n.222G>C c.301G>C c.*3237G>C (n.*3237G>C) c.2888G>C (p.Ser963Thr) c.4745G>C (p.Ser1582Thr) c.4772G>C (p.Ser1591Thr) c.4658G>C (p.Ser1553Thr) c.4788G>C (p.Gln1596His) n.5018G>C n.5034G>C c.3002G>C (p.Ser1001Thr) c.2285G>C (p.Ser762Thr) | |
11 | g.68448853G>T | CA381617955 | LRP5 | c.4631G>T (p.Ser1544Ile) n.222G>T c.301G>T c.*3237G>T (n.*3237G>T) c.2888G>T (p.Ser963Ile) c.4745G>T (p.Ser1582Ile) c.4772G>T (p.Ser1591Ile) c.4658G>T (p.Ser1553Ile) c.4788G>T (p.Gln1596His) n.5018G>T n.5034G>T c.3002G>T (p.Ser1001Ile) c.2285G>T (p.Ser762Ile) | |
11 | g.68448854C>A | CA381617957 | LRP5 | c.4632C>A (p.Ser1544Arg) n.223C>A c.302C>A c.*3238C>A (n.*3238C>A) c.2889C>A (p.Ser963Arg) c.4746C>A (p.Ser1582Arg) c.4773C>A (p.Ser1591Arg) c.4659C>A (p.Ser1553Arg) c.4789C>A (p.His1597Asn) n.5019C>A n.5035C>A c.3003C>A (p.Ser1001Arg) c.2286C>A (p.Ser762Arg) | |
11 | g.68448854C>G | CA381617959 | LRP5 | c.4632C>G (p.Ser1544Arg) n.223C>G c.302C>G c.*3238C>G (n.*3238C>G) c.2889C>G (p.Ser963Arg) c.4746C>G (p.Ser1582Arg) c.4773C>G (p.Ser1591Arg) c.4659C>G (p.Ser1553Arg) c.4789C>G (p.His1597Asp) n.5019C>G n.5035C>G c.3003C>G (p.Ser1001Arg) c.2286C>G (p.Ser762Arg) | |
11 | g.68448854C>T | CA475462524 | LRP5 | c.4632C>T (p.Ser1544=) n.223C>T c.302C>T c.*3238C>T (n.*3238C>T) c.2889C>T (p.Ser963=) c.4746C>T (p.Ser1582=) c.4773C>T (p.Ser1591=) c.4659C>T (p.Ser1553=) c.4789C>T (p.His1597Tyr) n.5019C>T n.5035C>T c.3003C>T (p.Ser1001=) c.2286C>T (p.Ser762=) | gnomAD v4 |
11 | g.68448855A>C | CA381617962 | LRP5 | c.4633A>C (p.Thr1545Pro) n.224A>C c.303A>C c.*3239A>C (n.*3239A>C) c.2890A>C (p.Thr964Pro) c.4747A>C (p.Thr1583Pro) c.4774A>C (p.Thr1592Pro) c.4660A>C (p.Thr1554Pro) c.4790A>C (p.His1597Pro) n.5020A>C n.5036A>C c.3004A>C (p.Thr1002Pro) c.2287A>C (p.Thr763Pro) | dbSNP gnomAD v4 |
11 | g.68448855A>G | CA381617964 | LRP5 | c.4633A>G (p.Thr1545Ala) n.224A>G c.303A>G c.*3239A>G (n.*3239A>G) c.2890A>G (p.Thr964Ala) c.4747A>G (p.Thr1583Ala) c.4774A>G (p.Thr1592Ala) c.4660A>G (p.Thr1554Ala) c.4790A>G (p.His1597Arg) n.5020A>G n.5036A>G c.3004A>G (p.Thr1002Ala) c.2287A>G (p.Thr763Ala) | dbSNP |
11 | g.68448855A>T | CA381617966 | LRP5 | c.4633A>T (p.Thr1545Ser) n.224A>T c.303A>T c.*3239A>T (n.*3239A>T) c.2890A>T (p.Thr964Ser) c.4747A>T (p.Thr1583Ser) c.4774A>T (p.Thr1592Ser) c.4660A>T (p.Thr1554Ser) c.4790A>T (p.His1597Leu) n.5020A>T n.5036A>T c.3004A>T (p.Thr1002Ser) c.2287A>T (p.Thr763Ser) | |
11 | g.68448856C>A | CA381617967 | LRP5 | c.4634C>A (p.Thr1545Asn) n.225C>A c.304C>A c.*3240C>A (n.*3240C>A) c.2891C>A (p.Thr964Asn) c.4748C>A (p.Thr1583Asn) c.4775C>A (p.Thr1592Asn) c.4661C>A (p.Thr1554Asn) c.4791C>A (p.His1597Gln) n.5021C>A n.5037C>A c.3005C>A (p.Thr1002Asn) c.2288C>A (p.Thr763Asn) | |
11 | g.68448856C>G | CA381617969 | LRP5 | c.4634C>G (p.Thr1545Ser) n.225C>G c.304C>G c.*3240C>G (n.*3240C>G) c.2891C>G (p.Thr964Ser) c.4748C>G (p.Thr1583Ser) c.4775C>G (p.Thr1592Ser) c.4661C>G (p.Thr1554Ser) c.4791C>G (p.His1597Gln) n.5021C>G n.5037C>G c.3005C>G (p.Thr1002Ser) c.2288C>G (p.Thr763Ser) | |
11 | g.68448856C>T | CA381617970 | LRP5 | c.4634C>T (p.Thr1545Ile) n.225C>T c.304C>T c.*3240C>T (n.*3240C>T) c.2891C>T (p.Thr964Ile) c.4748C>T (p.Thr1583Ile) c.4775C>T (p.Thr1592Ile) c.4661C>T (p.Thr1554Ile) c.4791C>T (p.His1597=) n.5021C>T n.5037C>T c.3005C>T (p.Thr1002Ile) c.2288C>T (p.Thr763Ile) | gnomAD v4 |
11 | g.68448857C>A | CA475462525 | LRP5 | c.4635C>A (p.Thr1545=) n.226C>A c.305C>A c.*3241C>A (n.*3241C>A) c.2892C>A (p.Thr964=) c.4749C>A (p.Thr1583=) c.4776C>A (p.Thr1592=) c.4662C>A (p.Thr1554=) c.4792C>A (p.Arg1598=) n.5022C>A n.5038C>A c.3006C>A (p.Thr1002=) c.2289C>A (p.Thr763=) | ClinVar |
11 | g.68448857C= | CA1980656678 | LRP5 | c.4635C= (p.Thr1545=) n.226C= c.305C= c.*3241C= (n.*3241C=) c.2892C= (p.Thr964=) c.4749C= (p.Thr1583=) c.4776C= (p.Thr1592=) c.4662C= (p.Thr1554=) c.4792C= (p.Arg1598=) n.5022C= n.5038C= c.3006C= (p.Thr1002=) c.2289C= (p.Thr763=) | |
11 | g.68448857C>G | CA475462526 | LRP5 | c.4635C>G (p.Thr1545=) n.226C>G c.305C>G c.*3241C>G (n.*3241C>G) c.2892C>G (p.Thr964=) c.4749C>G (p.Thr1583=) c.4776C>G (p.Thr1592=) c.4662C>G (p.Thr1554=) c.4792C>G (p.Arg1598Gly) n.5022C>G n.5038C>G c.3006C>G (p.Thr1002=) c.2289C>G (p.Thr763=) | |
11 | g.68448857C>T | CA214138 | LRP5 | c.4635C>T (p.Thr1545=) n.226C>T c.305C>T c.*3241C>T (n.*3241C>T) c.2892C>T (p.Thr964=) c.4749C>T (p.Thr1583=) c.4776C>T (p.Thr1592=) c.4662C>T (p.Thr1554=) c.4792C>T (p.Arg1598Ter) n.5022C>T n.5038C>T c.3006C>T (p.Thr1002=) c.2289C>T (p.Thr763=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68448858G>A | CA6150472 | LRP5 | c.4636G>A (p.Asp1546Asn) n.227G>A c.306G>A c.*3242G>A (n.*3242G>A) c.2893G>A (p.Asp965Asn) c.4750G>A (p.Asp1584Asn) c.4777G>A (p.Asp1593Asn) c.4663G>A (p.Asp1555Asn) c.4793G>A (p.Arg1598Gln) n.5023G>A n.5039G>A c.3007G>A (p.Asp1003Asn) c.2290G>A (p.Asp764Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68448858G>C | CA381617974 | LRP5 | c.4636G>C (p.Asp1546His) n.227G>C c.306G>C c.*3242G>C (n.*3242G>C) c.2893G>C (p.Asp965His) c.4750G>C (p.Asp1584His) c.4777G>C (p.Asp1593His) c.4663G>C (p.Asp1555His) c.4793G>C (p.Arg1598Pro) n.5023G>C n.5039G>C c.3007G>C (p.Asp1003His) c.2290G>C (p.Asp764His) | |
11 | g.68448858G= | CA1980656680 | LRP5 | c.4636G= (p.Asp1546=) n.227G= c.306G= c.*3242G= (n.*3242G=) c.2893G= (p.Asp965=) c.4750G= (p.Asp1584=) c.4777G= (p.Asp1593=) c.4663G= (p.Asp1555=) c.4793G= (p.Arg1598=) n.5023G= n.5039G= c.3007G= (p.Asp1003=) c.2290G= (p.Asp764=) | |
11 | g.68448858G>T | CA381617972 | LRP5 | c.4636G>T (p.Asp1546Tyr) n.227G>T c.306G>T c.*3242G>T (n.*3242G>T) c.2893G>T (p.Asp965Tyr) c.4750G>T (p.Asp1584Tyr) c.4777G>T (p.Asp1593Tyr) c.4663G>T (p.Asp1555Tyr) c.4793G>T (p.Arg1598Leu) n.5023G>T n.5039G>T c.3007G>T (p.Asp1003Tyr) c.2290G>T (p.Asp764Tyr) | |
11 | g.68448859A>C | CA381617977 | LRP5 | c.4637A>C (p.Asp1546Ala) n.228A>C c.307A>C c.*3243A>C (n.*3243A>C) c.2894A>C (p.Asp965Ala) c.4751A>C (p.Asp1584Ala) c.4778A>C (p.Asp1593Ala) c.4664A>C (p.Asp1555Ala) c.4794A>C (p.Arg1598=) n.5024A>C n.5040A>C c.3008A>C (p.Asp1003Ala) c.2291A>C (p.Asp764Ala) | |
11 | g.68448859A>G | CA381617978 | LRP5 | c.4637A>G (p.Asp1546Gly) n.228A>G c.307A>G c.*3243A>G (n.*3243A>G) c.2894A>G (p.Asp965Gly) c.4751A>G (p.Asp1584Gly) c.4778A>G (p.Asp1593Gly) c.4664A>G (p.Asp1555Gly) c.4794A>G (p.Arg1598=) n.5024A>G n.5040A>G c.3008A>G (p.Asp1003Gly) c.2291A>G (p.Asp764Gly) | |
11 | g.68448859A>T | CA381617980 | LRP5 | c.4637A>T (p.Asp1546Val) n.228A>T c.307A>T c.*3243A>T (n.*3243A>T) c.2894A>T (p.Asp965Val) c.4751A>T (p.Asp1584Val) c.4778A>T (p.Asp1593Val) c.4664A>T (p.Asp1555Val) c.4794A>T (p.Arg1598=) n.5024A>T n.5040A>T c.3008A>T (p.Asp1003Val) c.2291A>T (p.Asp764Val) | |
11 | g.68448860C>A | CA381617982 | LRP5 | c.4638C>A (p.Asp1546Glu) n.229C>A c.308C>A c.*3244C>A (n.*3244C>A) c.2895C>A (p.Asp965Glu) c.4752C>A (p.Asp1584Glu) c.4779C>A (p.Asp1593Glu) c.4665C>A (p.Asp1555Glu) c.4795C>A (p.Arg1599Ser) n.5025C>A n.5041C>A c.3009C>A (p.Asp1003Glu) c.2292C>A (p.Asp764Glu) | |
11 | g.68448860C= | CA1980656682 | LRP5 | c.4638C= (p.Asp1546=) n.229C= c.308C= c.*3244C= (n.*3244C=) c.2895C= (p.Asp965=) c.4752C= (p.Asp1584=) c.4779C= (p.Asp1593=) c.4665C= (p.Asp1555=) c.4795C= (p.Arg1599=) n.5025C= n.5041C= c.3009C= (p.Asp1003=) c.2292C= (p.Asp764=) | |
11 | g.68448860C>G | CA381617984 | LRP5 | c.4638C>G (p.Asp1546Glu) n.229C>G c.308C>G c.*3244C>G (n.*3244C>G) c.2895C>G (p.Asp965Glu) c.4752C>G (p.Asp1584Glu) c.4779C>G (p.Asp1593Glu) c.4665C>G (p.Asp1555Glu) c.4795C>G (p.Arg1599Gly) n.5025C>G n.5041C>G c.3009C>G (p.Asp1003Glu) c.2292C>G (p.Asp764Glu) | |
11 | g.68448860C>T | CA6150473 | LRP5 | c.4638C>T (p.Asp1546=) n.229C>T c.308C>T c.*3244C>T (n.*3244C>T) c.2895C>T (p.Asp965=) c.4752C>T (p.Asp1584=) c.4779C>T (p.Asp1593=) c.4665C>T (p.Asp1555=) c.4795C>T (p.Arg1599Cys) n.5025C>T n.5041C>T c.3009C>T (p.Asp1003=) c.2292C>T (p.Asp764=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68448861G>A | CA381617986 | LRP5 | c.4639G>A (p.Val1547Met) n.230G>A c.309G>A c.*3245G>A (n.*3245G>A) c.2896G>A (p.Val966Met) c.4753G>A (p.Val1585Met) c.4780G>A (p.Val1594Met) c.4666G>A (p.Val1556Met) c.4796G>A (p.Arg1599His) n.5026G>A n.5042G>A c.3010G>A (p.Val1004Met) c.2293G>A (p.Val765Met) | dbSNP gnomAD v4 |
11 | g.68448861G>C | CA381617989 | LRP5 | c.4639G>C (p.Val1547Leu) n.230G>C c.309G>C c.*3245G>C (n.*3245G>C) c.2896G>C (p.Val966Leu) c.4753G>C (p.Val1585Leu) c.4780G>C (p.Val1594Leu) c.4666G>C (p.Val1556Leu) c.4796G>C (p.Arg1599Pro) n.5026G>C n.5042G>C c.3010G>C (p.Val1004Leu) c.2293G>C (p.Val765Leu) | |
11 | g.68448861G= | CA1980656685 | LRP5 | c.4639G= (p.Val1547=) n.230G= c.309G= c.*3245G= (n.*3245G=) c.2896G= (p.Val966=) c.4753G= (p.Val1585=) c.4780G= (p.Val1594=) c.4666G= (p.Val1556=) c.4796G= (p.Arg1599=) n.5026G= n.5042G= c.3010G= (p.Val1004=) c.2293G= (p.Val765=) | |
11 | g.68448861G>T | CA381617990 | LRP5 | c.4639G>T (p.Val1547Leu) n.230G>T c.309G>T c.*3245G>T (n.*3245G>T) c.2896G>T (p.Val966Leu) c.4753G>T (p.Val1585Leu) c.4780G>T (p.Val1594Leu) c.4666G>T (p.Val1556Leu) c.4796G>T (p.Arg1599Leu) n.5026G>T n.5042G>T c.3010G>T (p.Val1004Leu) c.2293G>T (p.Val765Leu) | |
11 | g.68448862T>A | CA381617992 | LRP5 | c.4640T>A (p.Val1547Glu) n.231T>A c.310T>A c.*3246T>A (n.*3246T>A) c.2897T>A (p.Val966Glu) c.4754T>A (p.Val1585Glu) c.4781T>A (p.Val1594Glu) c.4667T>A (p.Val1556Glu) c.4797T>A (p.Arg1599=) n.5027T>A n.5043T>A c.3011T>A (p.Val1004Glu) c.2294T>A (p.Val765Glu) | |
11 | g.68448862T>C | CA381617994 | LRP5 | c.4640T>C (p.Val1547Ala) n.231T>C c.310T>C c.*3246T>C (n.*3246T>C) c.2897T>C (p.Val966Ala) c.4754T>C (p.Val1585Ala) c.4781T>C (p.Val1594Ala) c.4667T>C (p.Val1556Ala) c.4797T>C (p.Arg1599=) n.5027T>C n.5043T>C c.3011T>C (p.Val1004Ala) c.2294T>C (p.Val765Ala) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68448862T>G | CA381617995 | LRP5 | c.4640T>G (p.Val1547Gly) n.231T>G c.310T>G c.*3246T>G (n.*3246T>G) c.2897T>G (p.Val966Gly) c.4754T>G (p.Val1585Gly) c.4781T>G (p.Val1594Gly) c.4667T>G (p.Val1556Gly) c.4797T>G (p.Arg1599=) n.5027T>G n.5043T>G c.3011T>G (p.Val1004Gly) c.2294T>G (p.Val765Gly) | |
11 | g.68448862T= | CA1980656687 | LRP5 | c.4640T= (p.Val1547=) n.231T= c.310T= c.*3246T= (n.*3246T=) c.2897T= (p.Val966=) c.4754T= (p.Val1585=) c.4781T= (p.Val1594=) c.4667T= (p.Val1556=) c.4797T= (p.Arg1599=) n.5027T= n.5043T= c.3011T= (p.Val1004=) c.2294T= (p.Val765=) | |
11 | g.68448863G>A | CA475462529 | LRP5 | c.4641G>A (p.Val1547=) n.232G>A c.311G>A c.*3247G>A (n.*3247G>A) c.2898G>A (p.Val966=) c.4755G>A (p.Val1585=) c.4782G>A (p.Val1594=) c.4668G>A (p.Val1556=) c.4798G>A (p.Val1600Met) n.5028G>A n.5044G>A c.3012G>A (p.Val1004=) c.2295G>A (p.Val765=) | |
11 | g.68448863G>C | CA475462528 | LRP5 | c.4641G>C (p.Val1547=) n.232G>C c.311G>C c.*3247G>C (n.*3247G>C) c.2898G>C (p.Val966=) c.4755G>C (p.Val1585=) c.4782G>C (p.Val1594=) c.4668G>C (p.Val1556=) c.4798G>C (p.Val1600Leu) n.5028G>C n.5044G>C c.3012G>C (p.Val1004=) c.2295G>C (p.Val765=) | |
11 | g.68448863G>T | CA475462527 | LRP5 | c.4641G>T (p.Val1547=) n.232G>T c.311G>T c.*3247G>T (n.*3247G>T) c.2898G>T (p.Val966=) c.4755G>T (p.Val1585=) c.4782G>T (p.Val1594=) c.4668G>T (p.Val1556=) c.4798G>T (p.Val1600Leu) n.5028G>T n.5044G>T c.3012G>T (p.Val1004=) c.2295G>T (p.Val765=) | dbSNP gnomAD v4 COSMIC |
11 | g.68448864T>A | CA381618001 | LRP5 | c.4642T>A (p.Cys1548Ser) n.233T>A c.312T>A c.*3248T>A (n.*3248T>A) c.2899T>A (p.Cys967Ser) c.4756T>A (p.Cys1586Ser) c.4783T>A (p.Cys1595Ser) c.4669T>A (p.Cys1557Ser) c.4799T>A (p.Val1600Glu) n.5029T>A n.5045T>A c.3013T>A (p.Cys1005Ser) c.2296T>A (p.Cys766Ser) | |
11 | g.68448864T>C | CA381617998 | LRP5 | c.4642T>C (p.Cys1548Arg) n.233T>C c.312T>C c.*3248T>C (n.*3248T>C) c.2899T>C (p.Cys967Arg) c.4756T>C (p.Cys1586Arg) c.4783T>C (p.Cys1595Arg) c.4669T>C (p.Cys1557Arg) c.4799T>C (p.Val1600Ala) n.5029T>C n.5045T>C c.3013T>C (p.Cys1005Arg) c.2296T>C (p.Cys766Arg) | |
11 | g.68448864T>G | CA381618000 | LRP5 | c.4642T>G (p.Cys1548Gly) n.233T>G c.312T>G c.*3248T>G (n.*3248T>G) c.2899T>G (p.Cys967Gly) c.4756T>G (p.Cys1586Gly) c.4783T>G (p.Cys1595Gly) c.4669T>G (p.Cys1557Gly) c.4799T>G (p.Val1600Gly) n.5029T>G n.5045T>G c.3013T>G (p.Cys1005Gly) c.2296T>G (p.Cys766Gly) | |
11 | g.68448865G>A | CA381618004 | LRP5 | c.4643G>A (p.Cys1548Tyr) n.234G>A c.313G>A c.*3249G>A (n.*3249G>A) c.2900G>A (p.Cys967Tyr) c.4757G>A (p.Cys1586Tyr) c.4784G>A (p.Cys1595Tyr) c.4670G>A (p.Cys1557Tyr) c.4800G>A (p.Val1600=) n.5030G>A n.5046G>A c.3014G>A (p.Cys1005Tyr) c.2297G>A (p.Cys766Tyr) | dbSNP |
11 | g.68448865G>C | CA381618007 | LRP5 | c.4643G>C (p.Cys1548Ser) n.234G>C c.313G>C c.*3249G>C (n.*3249G>C) c.2900G>C (p.Cys967Ser) c.4757G>C (p.Cys1586Ser) c.4784G>C (p.Cys1595Ser) c.4670G>C (p.Cys1557Ser) c.4800G>C (p.Val1600=) n.5030G>C n.5046G>C c.3014G>C (p.Cys1005Ser) c.2297G>C (p.Cys766Ser) | dbSNP gnomAD v2 |
11 | g.68448865G= | CA1980656693 | LRP5 | c.4643G= (p.Cys1548=) n.234G= c.313G= c.*3249G= (n.*3249G=) c.2900G= (p.Cys967=) c.4757G= (p.Cys1586=) c.4784G= (p.Cys1595=) c.4670G= (p.Cys1557=) c.4800G= (p.Val1600=) n.5030G= n.5046G= c.3014G= (p.Cys1005=) c.2297G= (p.Cys766=) | |
11 | g.68448865G>T | CA6150474 | LRP5 | c.4643G>T (p.Cys1548Phe) n.234G>T c.313G>T c.*3249G>T (n.*3249G>T) c.2900G>T (p.Cys967Phe) c.4757G>T (p.Cys1586Phe) c.4784G>T (p.Cys1595Phe) c.4670G>T (p.Cys1557Phe) c.4800G>T (p.Val1600=) n.5030G>T n.5046G>T c.3014G>T (p.Cys1005Phe) c.2297G>T (p.Cys766Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68448866T>A | CA381618008 | LRP5 | c.4644T>A (p.Cys1548Ter) n.235T>A c.314T>A c.*3250T>A (n.*3250T>A) c.2901T>A (p.Cys967Ter) c.4758T>A (p.Cys1586Ter) c.4785T>A (p.Cys1595Ter) c.4671T>A (p.Cys1557Ter) c.4801T>A (p.Ter1601Arg) n.5031T>A n.5047T>A c.3015T>A (p.Cys1005Ter) c.2298T>A (p.Cys766Ter) | |
11 | g.68448866T>C | CA475462531 | LRP5 | c.4644T>C (p.Cys1548=) n.235T>C c.314T>C c.*3250T>C (n.*3250T>C) c.2901T>C (p.Cys967=) c.4758T>C (p.Cys1586=) c.4785T>C (p.Cys1595=) c.4671T>C (p.Cys1557=) c.4801T>C (p.Ter1601Arg) n.5031T>C n.5047T>C c.3015T>C (p.Cys1005=) c.2298T>C (p.Cys766=) | |
11 | g.68448866T>G | CA381618009 | LRP5 | c.4644T>G (p.Cys1548Trp) n.235T>G c.314T>G c.*3250T>G (n.*3250T>G) c.2901T>G (p.Cys967Trp) c.4758T>G (p.Cys1586Trp) c.4785T>G (p.Cys1595Trp) c.4671T>G (p.Cys1557Trp) c.4801T>G (p.Ter1601Gly) n.5031T>G n.5047T>G c.3015T>G (p.Cys1005Trp) c.2298T>G (p.Cys766Trp) | |
11 | g.68448867G>A | CA381618011 | LRP5 | c.4645G>A (p.Asp1549Asn) n.236G>A c.315G>A c.*3251G>A (n.*3251G>A) c.2902G>A (p.Asp968Asn) c.4759G>A (p.Asp1587Asn) c.4786G>A (p.Asp1596Asn) c.4672G>A (p.Asp1558Asn) c.4802G>A (p.Ter1601=) n.5032G>A n.5048G>A c.3016G>A (p.Asp1006Asn) c.2299G>A (p.Asp767Asn) | |
11 | g.68448867G>C | CA6150475 | LRP5 | c.4645G>C (p.Asp1549His) n.236G>C c.315G>C c.*3251G>C (n.*3251G>C) c.2902G>C (p.Asp968His) c.4759G>C (p.Asp1587His) c.4786G>C (p.Asp1596His) c.4672G>C (p.Asp1558His) c.4802G>C (p.Ter1601Ser) n.5032G>C n.5048G>C c.3016G>C (p.Asp1006His) c.2299G>C (p.Asp767His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68448867G= | CA1980656696 | LRP5 | c.4645G= (p.Asp1549=) n.236G= c.315G= c.*3251G= (n.*3251G=) c.2902G= (p.Asp968=) c.4759G= (p.Asp1587=) c.4786G= (p.Asp1596=) c.4672G= (p.Asp1558=) c.4802G= (p.Ter1601=) n.5032G= n.5048G= c.3016G= (p.Asp1006=) c.2299G= (p.Asp767=) | |
11 | g.68448867G>T | CA381618012 | LRP5 | c.4645G>T (p.Asp1549Tyr) n.236G>T c.315G>T c.*3251G>T (n.*3251G>T) c.2902G>T (p.Asp968Tyr) c.4759G>T (p.Asp1587Tyr) c.4786G>T (p.Asp1596Tyr) c.4672G>T (p.Asp1558Tyr) c.4802G>T (p.Ter1601Leu) n.5032G>T n.5048G>T c.3016G>T (p.Asp1006Tyr) c.2299G>T (p.Asp767Tyr) | gnomAD v4 |
11 | g.68448868A>C | CA381618014 | LRP5 | c.4646A>C (p.Asp1549Ala) n.237A>C c.316A>C c.*3252A>C (n.*3252A>C) c.2903A>C (p.Asp968Ala) c.4760A>C (p.Asp1587Ala) c.4787A>C (p.Asp1596Ala) c.4673A>C (p.Asp1558Ala) c.4803A>C (p.Ter1601Cys) n.5033A>C n.5049A>C c.3017A>C (p.Asp1006Ala) c.2300A>C (p.Asp767Ala) | |
11 | g.68448868A>G | CA381618015 | LRP5 | c.4646A>G (p.Asp1549Gly) n.237A>G c.316A>G c.*3252A>G (n.*3252A>G) c.2903A>G (p.Asp968Gly) c.4760A>G (p.Asp1587Gly) c.4787A>G (p.Asp1596Gly) c.4673A>G (p.Asp1558Gly) c.4803A>G (p.Ter1601Trp) n.5033A>G n.5049A>G c.3017A>G (p.Asp1006Gly) c.2300A>G (p.Asp767Gly) | |
11 | g.68448868A>T | CA381618017 | LRP5 | c.4646A>T (p.Asp1549Val) n.237A>T c.316A>T c.*3252A>T (n.*3252A>T) c.2903A>T (p.Asp968Val) c.4760A>T (p.Asp1587Val) c.4787A>T (p.Asp1596Val) c.4673A>T (p.Asp1558Val) c.4803A>T (p.Ter1601Cys) n.5033A>T n.5049A>T c.3017A>T (p.Asp1006Val) c.2300A>T (p.Asp767Val) | |
11 | g.68448869C>A | CA381618019 | LRP5 | c.4647C>A (p.Asp1549Glu) n.238C>A c.317C>A c.*3253C>A (n.*3253C>A) c.2904C>A (p.Asp968Glu) c.4761C>A (p.Asp1587Glu) c.4788C>A (p.Asp1596Glu) c.4674C>A (p.Asp1558Glu) c.*1C>A (n.*1C>A) n.5034C>A n.5050C>A c.3018C>A (p.Asp1006Glu) c.2301C>A (p.Asp767Glu) | |
11 | g.68448869C>G | CA381618021 | LRP5 | c.4647C>G (p.Asp1549Glu) n.238C>G c.317C>G c.*3253C>G (n.*3253C>G) c.2904C>G (p.Asp968Glu) c.4761C>G (p.Asp1587Glu) c.4788C>G (p.Asp1596Glu) c.4674C>G (p.Asp1558Glu) c.*1C>G (n.*1C>G) n.5034C>G n.5050C>G c.3018C>G (p.Asp1006Glu) c.2301C>G (p.Asp767Glu) | |
11 | g.68448869C>T | CA475462532 | LRP5 | c.4647C>T (p.Asp1549=) n.238C>T c.317C>T c.*3253C>T (n.*3253C>T) c.2904C>T (p.Asp968=) c.4761C>T (p.Asp1587=) c.4788C>T (p.Asp1596=) c.4674C>T (p.Asp1558=) c.*1C>T (n.*1C>T) n.5034C>T n.5050C>T c.3018C>T (p.Asp1006=) c.2301C>T (p.Asp767=) | |
11 | g.68448870A>C | CA381618023 | LRP5 | c.4648A>C (p.Ser1550Arg) n.239A>C c.318A>C c.*3254A>C (n.*3254A>C) c.2905A>C (p.Ser969Arg) c.4762A>C (p.Ser1588Arg) c.4789A>C (p.Ser1597Arg) c.4675A>C (p.Ser1559Arg) c.*2A>C (n.*2A>C) n.5035A>C n.5051A>C c.3019A>C (p.Ser1007Arg) c.2302A>C (p.Ser768Arg) | |
11 | g.68448870A>G | CA381618026 | LRP5 | c.4648A>G (p.Ser1550Gly) n.239A>G c.318A>G c.*3254A>G (n.*3254A>G) c.2905A>G (p.Ser969Gly) c.4762A>G (p.Ser1588Gly) c.4789A>G (p.Ser1597Gly) c.4675A>G (p.Ser1559Gly) c.*2A>G (n.*2A>G) n.5035A>G n.5051A>G c.3019A>G (p.Ser1007Gly) c.2302A>G (p.Ser768Gly) | gnomAD v4 |
11 | g.68448870A>T | CA381618029 | LRP5 | c.4648A>T (p.Ser1550Cys) n.239A>T c.318A>T c.*3254A>T (n.*3254A>T) c.2905A>T (p.Ser969Cys) c.4762A>T (p.Ser1588Cys) c.4789A>T (p.Ser1597Cys) c.4675A>T (p.Ser1559Cys) c.*2A>T (n.*2A>T) n.5035A>T n.5051A>T c.3019A>T (p.Ser1007Cys) c.2302A>T (p.Ser768Cys) | |
11 | g.68448871G>A | CA381618037 | LRP5 | c.4649G>A (p.Ser1550Asn) n.240G>A c.319G>A c.*3255G>A (n.*3255G>A) c.2906G>A (p.Ser969Asn) c.4763G>A (p.Ser1588Asn) c.4790G>A (p.Ser1597Asn) c.4676G>A (p.Ser1559Asn) c.*3G>A (n.*3G>A) n.5036G>A n.5052G>A c.3020G>A (p.Ser1007Asn) c.2303G>A (p.Ser768Asn) | COSMIC |
11 | g.68448871G>C | CA381618032 | LRP5 | c.4649G>C (p.Ser1550Thr) n.240G>C c.319G>C c.*3255G>C (n.*3255G>C) c.2906G>C (p.Ser969Thr) c.4763G>C (p.Ser1588Thr) c.4790G>C (p.Ser1597Thr) c.4676G>C (p.Ser1559Thr) c.*3G>C (n.*3G>C) n.5036G>C n.5052G>C c.3020G>C (p.Ser1007Thr) c.2303G>C (p.Ser768Thr) | |
11 | g.68448871G>T | CA381618035 | LRP5 | c.4649G>T (p.Ser1550Ile) n.240G>T c.319G>T c.*3255G>T (n.*3255G>T) c.2906G>T (p.Ser969Ile) c.4763G>T (p.Ser1588Ile) c.4790G>T (p.Ser1597Ile) c.4676G>T (p.Ser1559Ile) c.*3G>T (n.*3G>T) n.5036G>T n.5052G>T c.3020G>T (p.Ser1007Ile) c.2303G>T (p.Ser768Ile) | |
11 | g.68448872C>A | CA381618040 | LRP5 | c.4650C>A (p.Ser1550Arg) n.241C>A c.320C>A c.*3256C>A (n.*3256C>A) c.2907C>A (p.Ser969Arg) c.4764C>A (p.Ser1588Arg) c.4791C>A (p.Ser1597Arg) c.4677C>A (p.Ser1559Arg) c.*4C>A (n.*4C>A) n.5037C>A n.5053C>A c.3021C>A (p.Ser1007Arg) c.2304C>A (p.Ser768Arg) | |
11 | g.68448872C= | CA1980656699 | LRP5 | c.4650C= (p.Ser1550=) n.241C= c.320C= c.*3256C= (n.*3256C=) c.2907C= (p.Ser969=) c.4764C= (p.Ser1588=) c.4791C= (p.Ser1597=) c.4677C= (p.Ser1559=) c.*4C= (n.*4C=) n.5037C= n.5053C= c.3021C= (p.Ser1007=) c.2304C= (p.Ser768=) | |
11 | g.68448872C>G | CA381618042 | LRP5 | c.4650C>G (p.Ser1550Arg) n.241C>G c.320C>G c.*3256C>G (n.*3256C>G) c.2907C>G (p.Ser969Arg) c.4764C>G (p.Ser1588Arg) c.4791C>G (p.Ser1597Arg) c.4677C>G (p.Ser1559Arg) c.*4C>G (n.*4C>G) n.5037C>G n.5053C>G c.3021C>G (p.Ser1007Arg) c.2304C>G (p.Ser768Arg) | gnomAD v4 |
11 | g.68448872C>T | CA6150476 | LRP5 | c.4650C>T (p.Ser1550=) n.241C>T c.320C>T c.*3256C>T (n.*3256C>T) c.2907C>T (p.Ser969=) c.4764C>T (p.Ser1588=) c.4791C>T (p.Ser1597=) c.4677C>T (p.Ser1559=) c.*4C>T (n.*4C>T) n.5037C>T n.5053C>T c.3021C>T (p.Ser1007=) c.2304C>T (p.Ser768=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.68448873G>A | CA210911 | LRP5 | c.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 |
11 | g.68448873G>C | CA381618045 | LRP5 | c.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) | |
11 | g.68448873G= | CA1980656703 | LRP5 | c.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=) | |
11 | g.68448873G>T | CA381618050 | LRP5 | c.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 |
11 | g.68448874A>C | CA381618053 | LRP5 | c.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) | |
11 | g.68448874A>G | CA381618056 | LRP5 | c.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) | |
11 | g.68448874A>T | CA381618059 | LRP5 | c.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 |
11 | g.68448874_68448883del | CA2497030054 | LRP5 | c.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) | |
11 | g.68448875C>A | CA381618062 | LRP5 | c.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) | |
11 | g.68448875C>G | CA381618064 | LRP5 | c.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) | |
11 | g.68448875C>T | CA475462543 | LRP5 | c.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=) | |
11 | g.68448876T>A | CA381618072 | LRP5 | c.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) | |
11 | g.68448876T>C | CA381618075 | LRP5 | c.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) | |
11 | g.68448876T>G | CA381618069 | LRP5 | c.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 |
11 | g.68448877A>C | CA381618078 | LRP5 | c.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) | |
11 | g.68448877A>G | CA381618081 | LRP5 | c.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) | |
11 | g.68448877A>T | CA381618083 | LRP5 | c.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) | |
11 | g.68448878C>A | CA381618086 | LRP5 | c.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) | |
11 | g.68448878C>G | CA381618088 | LRP5 | c.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) | |
11 | g.68448878C>T | CA475462548 | LRP5 | c.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=) | |
11 | g.68448879A>C | CA381618091 | LRP5 | c.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) | |
11 | g.68448879A>G | CA381618092 | LRP5 | c.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 |
11 | g.68448879A>T | CA381618093 | LRP5 | c.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) | |
11 | g.68448880G>A | CA381618095 | LRP5 | c.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) | |
11 | g.68448880G>C | CA381618097 | LRP5 | c.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) | |
11 | g.68448880G= | CA1980656706 | LRP5 | c.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=) | |
11 | g.68448880G>T | CA381618098 | LRP5 | c.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 |
11 | g.68448881C>A | CA381618101 | LRP5 | c.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) | |
11 | g.68448881C= | CA1980656708 | LRP5 | c.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=) | |
11 | g.68448881C>G | CA224260723 | LRP5 | c.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 |
11 | g.68448881C>T | CA6150477 | LRP5 | c.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 |
11 | g.68448882G>A | CA6150478 | LRP5 | c.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 |
11 | g.68448882G>C | CA6150479 | LRP5 | c.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 |
11 | g.68448882G= | CA1980656710 | LRP5 | c.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=) | |
11 | g.68448882G>T | CA381618105 | LRP5 | c.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) | |
11 | g.68448883C>A | CA381618108 | LRP5 | c.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) | |
11 | g.68448883C>G | CA381618109 | LRP5 | c.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) | |
11 | g.68448883C>T | CA381618112 | LRP5 | c.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) | |
11 | g.68448883_68448884dup | CA1980656711 | LRP5 | c.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 |
11 | g.68448884C>A | CA475462564 | LRP5 | c.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=) | |
11 | g.68448884C>G | CA475462563 | LRP5 | c.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=) | |
11 | g.68448884C>T | CA475462561 | LRP5 | c.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=) | |
11 | g.68448885A>C | CA381618114 | LRP5 | c.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) | |
11 | g.68448885A>G | CA381618118 | LRP5 | c.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) | |
11 | g.68448885A>T | CA381618115 | LRP5 | c.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) | |
11 | g.68448886G>A | CA381618120 | LRP5 | c.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) | |
11 | g.68448886G>C | CA381618122 | LRP5 | c.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) | |
11 | g.68448886G>T | CA381618123 | LRP5 | c.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) | |
11 | g.68448887C>A | CA381618125 | LRP5 | c.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) | |
11 | g.68448887C>G | CA381618127 | LRP5 | c.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) | |
11 | g.68448887C>T | CA475462570 | LRP5 | c.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=) | |
11 | g.68448888C>A | CA381618131 | LRP5 | c.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) | |
11 | g.68448888C= | CA1980656713 | LRP5 | c.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=) | |
11 | g.68448888C>G | CA381618129 | LRP5 | c.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) | |
11 | g.68448888C>T | CA6150480 | LRP5 | c.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 |
11 | g.68448889G>A | CA6150481 | LRP5 | c.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 |
11 | g.68448889G>C | CA381618132 | LRP5 | c.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) | |
11 | g.68448889G= | CA1980656715 | LRP5 | c.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=) | |
11 | g.68448889G>T | CA381618134 | LRP5 | c.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 |
11 | g.68448890C>A | CA475462576 | LRP5 | c.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=) | |
11 | g.68448890C>G | CA475462580 | LRP5 | c.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=) | |
11 | g.68448890C>T | CA475462578 | LRP5 | c.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=) | |
11 | g.68448891T>A | CA381618136 | LRP5 | c.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) | |
11 | g.68448891T>C | CA381618138 | LRP5 | c.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 |
11 | g.68448891T>G | CA381618140 | LRP5 | c.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 |
11 | g.68448891T= | CA1980656717 | LRP5 | c.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=) | |
11 | g.68448892G>A | CA381618142 | LRP5 | c.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 |
11 | g.68448892G>C | CA381618143 | LRP5 | c.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) | |
11 | g.68448892G>T | CA381618145 | LRP5 | c.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) | |
11 | g.68448893G>A | CA381618147 | LRP5 | c.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) | |
11 | g.68448893G>C | CA381618152 | LRP5 | c.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) | |
11 | g.68448893G>T | CA381618153 | LRP5 | c.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) | |
11 | g.68448894A>C | CA381618155 | LRP5 | c.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) | |
11 | g.68448894A>G | CA381618157 | LRP5 | c.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) | |
11 | g.68448894A>T | CA381618159 | LRP5 | c.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) | |
11 | g.68448895A= | CA1980656719 | LRP5 | c.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=) | |
11 | g.68448895A>C | CA381618165 | LRP5 | c.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) | |
11 | g.68448895A>G | CA6150482 | LRP5 | c.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 |
11 | g.68448895A>T | CA381618163 | LRP5 | c.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) | |
11 | g.68448896G>A | CA475462592 | LRP5 | c.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 |
11 | g.68448896G>C | CA381618168 | LRP5 | c.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) | |
11 | g.68448896G= | CA1980656721 | LRP5 | c.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=) | |
11 | g.68448896G>T | CA381618169 | LRP5 | c.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) | |
11 | g.68448897G>A | CA381618172 | LRP5 | c.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 |
11 | g.68448897G>C | CA381618174 | LRP5 | c.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 |
11 | g.68448897G= | CA1980656722 | LRP5 | c.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=) | |
11 | g.68448897G>T | CA381618175 | LRP5 | c.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) | |
11 | g.68448898C>A | CA381618177 | LRP5 | c.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) | |
11 | g.68448898C= | CA1980656723 | LRP5 | c.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=) | |
11 | g.68448898C>G | CA381618180 | LRP5 | c.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) | |
11 | g.68448898C>T | CA381618181 | LRP5 | c.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 |
11 | g.68448899C>A | CA475462599 | LRP5 | c.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=) | |
11 | g.68448899C>G | CA475462601 | LRP5 | c.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=) | |
11 | g.68448899C>T | CA475462602 | LRP5 | c.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=) | |
11 | g.68448900A>C | CA381618183 | LRP5 | c.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) | |
11 | g.68448900A>G | CA381618185 | LRP5 | c.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) | |
11 | g.68448900A>T | CA381618187 | LRP5 | c.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) | |
11 | g.68448901G>A | CA381618191 | LRP5 | c.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 |
11 | g.68448901G>C | CA381618193 | LRP5 | c.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 |
11 | g.68448901G>T | CA381618189 | LRP5 | c.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) | |
11 | g.68448902C>A | CA381618194 | LRP5 | c.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) | |
11 | g.68448902C>G | CA381618195 | LRP5 | c.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) | |
11 | g.68448902C>T | CA475462609 | LRP5 | c.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=) | |
11 | g.68448903A>C | CA381618201 | LRP5 | c.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) | |
11 | g.68448903A>G | CA381618203 | LRP5 | c.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 |
11 | g.68448903A>T | CA381618205 | LRP5 | c.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) | |
11 | g.68448904A>C | CA381618207 | LRP5 | c.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) | |
11 | g.68448904A>G | CA381618209 | LRP5 | c.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 |
11 | g.68448904A>T | CA381618211 | LRP5 | c.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) | |
11 | g.68448905G>A | CA475462617 | LRP5 | c.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 |
11 | g.68448905G>C | CA381618213 | LRP5 | c.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) | |
11 | g.68448905G= | CA1980656725 | LRP5 | c.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=) | |
11 | g.68448905G>T | CA381618214 | LRP5 | c.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) | |
11 | g.68448906T>A | CA381618217 | LRP5 | c.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) | |
11 | g.68448906T>C | CA381618219 | LRP5 | c.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) | |
11 | g.68448906T>G | CA381618220 | LRP5 | c.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) | |
11 | g.68448907A= | CA1980656727 | LRP5 | c.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=) | |
11 | g.68448907A>C | CA381618223 | LRP5 | c.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) | |
11 | g.68448907A>G | CA6150483 | LRP5 | c.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 |
11 | g.68448907A>T | CA381618221 | LRP5 | c.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) | |
11 | g.68448908C>A | CA381618225 | LRP5 | c.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) | |
11 | g.68448908C>G | CA381618227 | LRP5 | c.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) | |
11 | g.68448908C>T | CA475462625 | LRP5 | c.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 |
11 | g.68448909T>A | CA6150484 | LRP5 | c.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 |
11 | g.68448909T>C | CA381618229 | LRP5 | c.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 |
11 | g.68448909T>G | CA381618231 | LRP5 | c.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 |
11 | g.68448909T= | CA1980656730 | LRP5 | c.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=) | |
11 | g.68448910A= | CA1980656732 | LRP5 | c.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=) | |
11 | g.68448910A>C | CA381618233 | LRP5 | c.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) | |
11 | g.68448910A>G | CA381618235 | LRP5 | c.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 |
11 | g.68448910A>T | CA381618237 | LRP5 | c.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) | |
11 | g.68448911C>A | CA381618238 | LRP5 | c.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) | |
11 | g.68448911C= | CA1980656736 | LRP5 | c.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=) | |
11 | g.68448911C>G | CA381618240 | LRP5 | c.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) | |
11 | g.68448911C>T | CA6150485 | LRP5 | c.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 |
11 | g.68448912C>A | CA381618242 | LRP5 | c.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) | |
11 | g.68448912C= | CA1980656737 | LRP5 | c.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=) | |
11 | g.68448912C>G | CA381618244 | LRP5 | c.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) | |
11 | g.68448912C>T | CA475462635 | LRP5 | c.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 |
11 | g.68448913T>A | CA381618250 | LRP5 | c.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) | |
11 | g.68448913T>C | CA381618248 | LRP5 | c.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) | |
11 | g.68448913T>G | CA381618246 | LRP5 | c.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) | |
11 | g.68448914G>A | CA224260748 | LRP5 | c.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 |
11 | g.68448914G>C | CA475462640 | LRP5 | c.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=) | |
11 | g.68448914G= | CA1980656739 | LRP5 | c.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=) | |
11 | g.68448914G>T | CA475462642 | LRP5 | c.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=) | |
11 | g.68448915G>A | CA381618257 | LRP5 | c.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 |
11 | g.68448915G>C | CA381618259 | LRP5 | c.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) | |
11 | g.68448915G= | CA1980656743 | LRP5 | c.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=) | |
11 | g.68448915G>T | CA381618262 | LRP5 | c.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) | |
11 | g.68448916A>C | CA381618264 | LRP5 | c.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) | |
11 | g.68448916A>G | CA381618265 | LRP5 | c.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) | |
11 | g.68448916A>T | CA381618267 | LRP5 | c.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) | |
11 | g.68448916_68448957dup | CA600239277 | LRP5 | c.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 |
11 | g.68448917T>A | CA381618271 | LRP5 | c.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) | |
11 | g.68448917T>C | CA475462648 | LRP5 | c.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=) | |
11 | g.68448917T>G | CA381618269 | LRP5 | c.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) | |
11 | g.68448918T>A | CA381618273 | LRP5 | c.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) | |
11 | g.68448918T>C | CA475462650 | LRP5 | c.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 |
11 | g.68448918T>G | CA381618274 | LRP5 | c.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) | |
11 | g.68448918T= | CA1980656748 | LRP5 | c.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=) | |
11 | g.68448919T>A | CA381618276 | LRP5 | c.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) | |
11 | g.68448919T>C | CA381618278 | LRP5 | c.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) | |
11 | g.68448919T>G | CA381618280 | LRP5 | c.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) | |
11 | g.68448919_68448926delinsTGAACTCG | CA1980656750 | LRP5 | c.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=) | |
11 | g.68448920G>A | CA475462654 | LRP5 | c.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=) | |
11 | g.68448920G>C | CA381618281 | LRP5 | c.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) | |
11 | g.68448920G>T | CA381618283 | LRP5 | c.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) | |
11 | g.68448922_68448928del | CA916083257 | LRP5 | c.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 |
11 | g.68448921A>C | CA381618286 | LRP5 | c.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) | |
11 | g.68448921A>G | CA381618290 | LRP5 | c.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) | |
11 | g.68448921A>T | CA381618287 | LRP5 | c.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) | |
11 | g.68448922A= | CA1980656754 | LRP5 | c.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=) | |
11 | g.68448922A>C | CA381618293 | LRP5 | c.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 |
11 | g.68448922A>G | CA381618294 | LRP5 | c.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) | |
11 | g.68448922A>T | CA381618296 | LRP5 | c.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) | |
11 | g.68448923C>A | CA381618298 | LRP5 | c.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) | |
11 | g.68448923C>G | CA381618300 | LRP5 | c.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) | |
11 | g.68448923C>T | CA475462667 | LRP5 | c.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=) | |
11 | g.68448924T>A | CA381618302 | LRP5 | c.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) | |
11 | g.68448924T>C | CA381618304 | LRP5 | c.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) | |
11 | g.68448924T>G | CA381618306 | LRP5 | c.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) | |
11 | g.68448925C>A | CA381618308 | LRP5 | c.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) | |
11 | g.68448925C= | CA1980656756 | LRP5 | c.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=) | |
11 | g.68448925C>G | CA381618311 | LRP5 | c.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) | |
11 | g.68448925C>T | CA6150486 | LRP5 | c.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 |
11 | g.68448926G>A | CA6150487 | LRP5 | c.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 |
11 | g.68448926G>C | CA475462676 | LRP5 | c.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=) | |
11 | g.68448926G= | CA1980656759 | LRP5 | c.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=) | |
11 | g.68448926G>T | CA475462674 | LRP5 | c.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=) | |
11 | g.68448927G>A | CA381618319 | LRP5 | c.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) | |
11 | g.68448927G>C | CA381618314 | LRP5 | c.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) | |
11 | g.68448927G>T | CA381618317 | LRP5 | c.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) |