| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68433825_68433836dup | CA600239234 | LRP5 | c.3987_3998dup (p.Cys1332_Asp1333insGluAlaAspCys) c.*2593_*2604dup (n.*2593_*2604dup) c.2244_2255dup (p.Cys751_Asp752insGluAlaAspCys) c.4014_4025dup (p.Cys1341_Asp1342insGluAlaAspCys) n.4029_4040dup c.1527_1538dup (p.Cys512_Asp513insGluAlaAspCys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433827C>A | CA381614042 | LRP5 | c.3989C>A (p.Ala1330Glu) c.*2595C>A (n.*2595C>A) c.2246C>A (p.Ala749Glu) c.4016C>A (p.Ala1339Glu) n.4031C>A c.1529C>A (p.Ala510Glu) | |
| 11 | g.68433827C= | CA1980622591 | LRP5 | c.3989C= (p.Ala1330=) c.*2595C= (n.*2595C=) c.2246C= (p.Ala749=) c.4016C= (p.Ala1339=) n.4031C= c.1529C= (p.Ala510=) | |
| 11 | g.68433827C>G | CA381614043 | LRP5 | c.3989C>G (p.Ala1330Gly) c.*2595C>G (n.*2595C>G) c.2246C>G (p.Ala749Gly) c.4016C>G (p.Ala1339Gly) n.4031C>G c.1529C>G (p.Ala510Gly) | |
| 11 | g.68433827C>T | CA6150180 | LRP5 | c.3989C>T (p.Ala1330Val) c.*2595C>T (n.*2595C>T) c.2246C>T (p.Ala749Val) c.4016C>T (p.Ala1339Val) n.4031C>T c.1529C>T (p.Ala510Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433828G>A | CA241024 | LRP5 | c.3990G>A (p.Ala1330=) c.*2596G>A (n.*2596G>A) c.2247G>A (p.Ala749=) c.4017G>A (p.Ala1339=) n.4032G>A c.1530G>A (p.Ala510=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433828G>C | CA475460878 | LRP5 | c.3990G>C (p.Ala1330=) c.*2596G>C (n.*2596G>C) c.2247G>C (p.Ala749=) c.4017G>C (p.Ala1339=) n.4032G>C c.1530G>C (p.Ala510=) | |
| 11 | g.68433828G= | CA1980622598 | LRP5 | c.3990G= (p.Ala1330=) c.*2596G= (n.*2596G=) c.2247G= (p.Ala749=) c.4017G= (p.Ala1339=) n.4032G= c.1530G= (p.Ala510=) | |
| 11 | g.68433828G>T | CA475460877 | LRP5 | c.3990G>T (p.Ala1330=) c.*2596G>T (n.*2596G>T) c.2247G>T (p.Ala749=) c.4017G>T (p.Ala1339=) n.4032G>T c.1530G>T (p.Ala510=) | |
| 11 | g.68433829G>A | CA381614044 | LRP5 | c.3991G>A (p.Asp1331Asn) c.*2597G>A (n.*2597G>A) c.2248G>A (p.Asp750Asn) c.4018G>A (p.Asp1340Asn) n.4033G>A c.1531G>A (p.Asp511Asn) | COSMIC |
| 11 | g.68433829G>C | CA381614045 | LRP5 | c.3991G>C (p.Asp1331His) c.*2597G>C (n.*2597G>C) c.2248G>C (p.Asp750His) c.4018G>C (p.Asp1340His) n.4033G>C c.1531G>C (p.Asp511His) | |
| 11 | g.68433829G>T | CA381614046 | LRP5 | c.3991G>T (p.Asp1331Tyr) c.*2597G>T (n.*2597G>T) c.2248G>T (p.Asp750Tyr) c.4018G>T (p.Asp1340Tyr) n.4033G>T c.1531G>T (p.Asp511Tyr) | gnomAD v4 |
| 11 | g.68433830A= | CA1980622608 | LRP5 | c.3992A= (p.Asp1331=) c.*2598A= (n.*2598A=) c.2249A= (p.Asp750=) c.4019A= (p.Asp1340=) n.4034A= c.1532A= (p.Asp511=) | |
| 11 | g.68433830A>C | CA381614047 | LRP5 | c.3992A>C (p.Asp1331Ala) c.*2598A>C (n.*2598A>C) c.2249A>C (p.Asp750Ala) c.4019A>C (p.Asp1340Ala) n.4034A>C c.1532A>C (p.Asp511Ala) | |
| 11 | g.68433830A>G | CA381614048 | LRP5 | c.3992A>G (p.Asp1331Gly) c.*2598A>G (n.*2598A>G) c.2249A>G (p.Asp750Gly) c.4019A>G (p.Asp1340Gly) n.4034A>G c.1532A>G (p.Asp511Gly) | |
| 11 | g.68433830A>T | CA381614049 | LRP5 | c.3992A>T (p.Asp1331Val) c.*2598A>T (n.*2598A>T) c.2249A>T (p.Asp750Val) c.4019A>T (p.Asp1340Val) n.4034A>T c.1532A>T (p.Asp511Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68433831C>A | CA381614050 | LRP5 | c.3993C>A (p.Asp1331Glu) c.*2599C>A (n.*2599C>A) c.2250C>A (p.Asp750Glu) c.4020C>A (p.Asp1340Glu) n.4035C>A c.1533C>A (p.Asp511Glu) | |
| 11 | g.68433831C>G | CA381614051 | LRP5 | c.3993C>G (p.Asp1331Glu) c.*2599C>G (n.*2599C>G) c.2250C>G (p.Asp750Glu) c.4020C>G (p.Asp1340Glu) n.4035C>G c.1533C>G (p.Asp511Glu) | |
| 11 | g.68433831C>T | CA475460882 | LRP5 | c.3993C>T (p.Asp1331=) c.*2599C>T (n.*2599C>T) c.2250C>T (p.Asp750=) c.4020C>T (p.Asp1340=) n.4035C>T c.1533C>T (p.Asp511=) | |
| 11 | g.68433832T>A | CA381614052 | LRP5 | c.3994T>A (p.Cys1332Ser) c.*2600T>A (n.*2600T>A) c.2251T>A (p.Cys751Ser) c.4021T>A (p.Cys1341Ser) n.4036T>A c.1534T>A (p.Cys512Ser) | |
| 11 | g.68433832T>C | CA381614054 | LRP5 | c.3994T>C (p.Cys1332Arg) c.*2600T>C (n.*2600T>C) c.2251T>C (p.Cys751Arg) c.4021T>C (p.Cys1341Arg) n.4036T>C c.1534T>C (p.Cys512Arg) | |
| 11 | g.68433832T>G | CA381614053 | LRP5 | c.3994T>G (p.Cys1332Gly) c.*2600T>G (n.*2600T>G) c.2251T>G (p.Cys751Gly) c.4021T>G (p.Cys1341Gly) n.4036T>G c.1534T>G (p.Cys512Gly) | |
| 11 | g.68433833G>A | CA381614055 | LRP5 | c.3995G>A (p.Cys1332Tyr) c.*2601G>A (n.*2601G>A) c.2252G>A (p.Cys751Tyr) c.4022G>A (p.Cys1341Tyr) n.4037G>A c.1535G>A (p.Cys512Tyr) | gnomAD v4 |
| 11 | g.68433833G>C | CA381614056 | LRP5 | c.3995G>C (p.Cys1332Ser) c.*2601G>C (n.*2601G>C) c.2252G>C (p.Cys751Ser) c.4022G>C (p.Cys1341Ser) n.4037G>C c.1535G>C (p.Cys512Ser) | |
| 11 | g.68433833G>T | CA381614057 | LRP5 | c.3995G>T (p.Cys1332Phe) c.*2601G>T (n.*2601G>T) c.2252G>T (p.Cys751Phe) c.4022G>T (p.Cys1341Phe) n.4037G>T c.1535G>T (p.Cys512Phe) | |
| 11 | g.68433834T>A | CA381614058 | LRP5 | c.3996T>A (p.Cys1332Ter) c.*2602T>A (n.*2602T>A) c.2253T>A (p.Cys751Ter) c.4023T>A (p.Cys1341Ter) n.4038T>A c.1536T>A (p.Cys512Ter) | |
| 11 | g.68433834T>C | CA475460884 | LRP5 | c.3996T>C (p.Cys1332=) c.*2602T>C (n.*2602T>C) c.2253T>C (p.Cys751=) c.4023T>C (p.Cys1341=) n.4038T>C c.1536T>C (p.Cys512=) | |
| 11 | g.68433834T>G | CA381614059 | LRP5 | c.3996T>G (p.Cys1332Trp) c.*2602T>G (n.*2602T>G) c.2253T>G (p.Cys751Trp) c.4023T>G (p.Cys1341Trp) n.4038T>G c.1536T>G (p.Cys512Trp) | |
| 11 | g.68433835G>A | CA381614060 | LRP5 | c.3997G>A (p.Asp1333Asn) c.*2603G>A (n.*2603G>A) c.2254G>A (p.Asp752Asn) c.4024G>A (p.Asp1342Asn) n.4039G>A c.1537G>A (p.Asp513Asn) | |
| 11 | g.68433835G>C | CA381614061 | LRP5 | c.3997G>C (p.Asp1333His) c.*2603G>C (n.*2603G>C) c.2254G>C (p.Asp752His) c.4024G>C (p.Asp1342His) n.4039G>C c.1537G>C (p.Asp513His) | gnomAD v4 |
| 11 | g.68433835G>T | CA381614062 | LRP5 | c.3997G>T (p.Asp1333Tyr) c.*2603G>T (n.*2603G>T) c.2254G>T (p.Asp752Tyr) c.4024G>T (p.Asp1342Tyr) n.4039G>T c.1537G>T (p.Asp513Tyr) | gnomAD v4 |
| 11 | g.68433836A>C | CA381614063 | LRP5 | c.3998A>C (p.Asp1333Ala) c.*2604A>C (n.*2604A>C) c.2255A>C (p.Asp752Ala) c.4025A>C (p.Asp1342Ala) n.4040A>C c.1538A>C (p.Asp513Ala) | |
| 11 | g.68433836A>G | CA381614064 | LRP5 | c.3998A>G (p.Asp1333Gly) c.*2604A>G (n.*2604A>G) c.2255A>G (p.Asp752Gly) c.4025A>G (p.Asp1342Gly) n.4040A>G c.1538A>G (p.Asp513Gly) | |
| 11 | g.68433836A>T | CA381614065 | LRP5 | c.3998A>T (p.Asp1333Val) c.*2604A>T (n.*2604A>T) c.2255A>T (p.Asp752Val) c.4025A>T (p.Asp1342Val) n.4040A>T c.1538A>T (p.Asp513Val) | |
| 11 | g.68433837C>A | CA381614067 | LRP5 | c.3999C>A (p.Asp1333Glu) c.*2605C>A (n.*2605C>A) c.2256C>A (p.Asp752Glu) c.4026C>A (p.Asp1342Glu) n.4041C>A c.1539C>A (p.Asp513Glu) | gnomAD v4 |
| 11 | g.68433837C= | CA1980622611 | LRP5 | c.3999C= (p.Asp1333=) c.*2605C= (n.*2605C=) c.2256C= (p.Asp752=) c.4026C= (p.Asp1342=) n.4041C= c.1539C= (p.Asp513=) | |
| 11 | g.68433837C>G | CA381614066 | LRP5 | c.3999C>G (p.Asp1333Glu) c.*2605C>G (n.*2605C>G) c.2256C>G (p.Asp752Glu) c.4026C>G (p.Asp1342Glu) n.4041C>G c.1539C>G (p.Asp513Glu) | |
| 11 | g.68433837C>T | CA6150181 | LRP5 | c.3999C>T (p.Asp1333=) c.*2605C>T (n.*2605C>T) c.2256C>T (p.Asp752=) c.4026C>T (p.Asp1342=) n.4041C>T c.1539C>T (p.Asp513=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433838G>A | CA6150182 | LRP5 | c.4000G>A (p.Ala1334Thr) c.*2606G>A (n.*2606G>A) c.2257G>A (p.Ala753Thr) c.4027G>A (p.Ala1343Thr) n.4042G>A c.1540G>A (p.Ala514Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433838G>C | CA381614068 | LRP5 | c.4000G>C (p.Ala1334Pro) c.*2606G>C (n.*2606G>C) c.2257G>C (p.Ala753Pro) c.4027G>C (p.Ala1343Pro) n.4042G>C c.1540G>C (p.Ala514Pro) | |
| 11 | g.68433838G= | CA1980622614 | LRP5 | c.4000G= (p.Ala1334=) c.*2606G= (n.*2606G=) c.2257G= (p.Ala753=) c.4027G= (p.Ala1343=) n.4042G= c.1540G= (p.Ala514=) | |
| 11 | g.68433838G>T | CA381614069 | LRP5 | c.4000G>T (p.Ala1334Ser) c.*2606G>T (n.*2606G>T) c.2257G>T (p.Ala753Ser) c.4027G>T (p.Ala1343Ser) n.4042G>T c.1540G>T (p.Ala514Ser) | gnomAD v4 COSMIC |
| 11 | g.68433838_68433839insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC | CA2724556268 | LRP5 | c.4000_4000+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC (n.4000_4000+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC) c.*2606_*2606+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC (n.*2606_*2606+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC) c.2257_2257+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC (n.2257_2257+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC) c.4027_4027+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC (n.4027_4027+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC) n.4042_4042+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC c.1540_1540+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC (n.1540_1540+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC) | dbSNP |
| 11 | g.68433839G>A | CA381614070 | LRP5 | c.4000+1G>A (n.4000+1G>A) c.*2606+1G>A (n.*2606+1G>A) c.2257+1G>A (n.2257+1G>A) c.4027+1G>A (n.4027+1G>A) n.4042+1G>A c.1540+1G>A (n.1540+1G>A) | |
| 11 | g.68433839G>C | CA381614071 | LRP5 | c.4000+1G>C (n.4000+1G>C) c.*2606+1G>C (n.*2606+1G>C) c.2257+1G>C (n.2257+1G>C) c.4027+1G>C (n.4027+1G>C) n.4042+1G>C c.1540+1G>C (n.1540+1G>C) | |
| 11 | g.68433839G= | CA1980622640 | LRP5 | c.4000+1G= (n.4000+1G=) c.*2606+1G= (n.*2606+1G=) c.2257+1G= (n.2257+1G=) c.4027+1G= (n.4027+1G=) n.4042+1G= c.1540+1G= (n.1540+1G=) | |
| 11 | g.68433839G>T | CA381614072 | LRP5 | c.4000+1G>T (n.4000+1G>T) c.*2606+1G>T (n.*2606+1G>T) c.2257+1G>T (n.2257+1G>T) c.4027+1G>T (n.4027+1G>T) n.4042+1G>T c.1540+1G>T (n.1540+1G>T) | ClinVar dbSNP |
| 11 | g.68433840T>A | CA381614073 | LRP5 | c.4000+2T>A (n.4000+2T>A) c.*2606+2T>A (n.*2606+2T>A) c.2257+2T>A (n.2257+2T>A) c.4027+2T>A (n.4027+2T>A) n.4042+2T>A c.1540+2T>A (n.1540+2T>A) | |
| 11 | g.68433840T>C | CA381614074 | LRP5 | c.4000+2T>C (n.4000+2T>C) c.*2606+2T>C (n.*2606+2T>C) c.2257+2T>C (n.2257+2T>C) c.4027+2T>C (n.4027+2T>C) n.4042+2T>C c.1540+2T>C (n.1540+2T>C) | |
| 11 | g.68433840T>G | CA381614075 | LRP5 | c.4000+2T>G (n.4000+2T>G) c.*2606+2T>G (n.*2606+2T>G) c.2257+2T>G (n.2257+2T>G) c.4027+2T>G (n.4027+2T>G) n.4042+2T>G c.1540+2T>G (n.1540+2T>G) | dbSNP gnomAD v4 |