UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68409887del | CA2614713400 | LRP5 | c.2092-27del (n.2092-27del) c.*698-27del (n.*698-27del) c.349-27del (n.349-27del) c.2119-27del (n.2119-27del) n.2134-27del | gnomAD v4 |
| 11 | g.68409887G>A | CA6149535 | LRP5 | c.2092-27G>A (n.2092-27G>A) c.*698-27G>A (n.*698-27G>A) c.349-27G>A (n.349-27G>A) c.2119-27G>A (n.2119-27G>A) n.2134-27G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68409887G= | CA1980594491 | LRP5 | c.2092-27G= (n.2092-27G=) c.*698-27G= (n.*698-27G=) c.349-27G= (n.349-27G=) c.2119-27G= (n.2119-27G=) n.2134-27G= | |
| 11 | g.68409888C>A | CA2574900881 | LRP5 | c.2092-26C>A (n.2092-26C>A) c.*698-26C>A (n.*698-26C>A) c.349-26C>A (n.349-26C>A) c.2119-26C>A (n.2119-26C>A) n.2134-26C>A | gnomAD v4 |
| 11 | g.68409889C>A | CA2614713401 | LRP5 | c.2092-25C>A (n.2092-25C>A) c.*698-25C>A (n.*698-25C>A) c.349-25C>A (n.349-25C>A) c.2119-25C>A (n.2119-25C>A) n.2134-25C>A | gnomAD v4 |
| 11 | g.68409889C>T | CA2614713402 | LRP5 | c.2092-25C>T (n.2092-25C>T) c.*698-25C>T (n.*698-25C>T) c.349-25C>T (n.349-25C>T) c.2119-25C>T (n.2119-25C>T) n.2134-25C>T | gnomAD v4 |
| 11 | g.68409890C>A | CA2614713404 | LRP5 | c.2092-24C>A (n.2092-24C>A) c.*698-24C>A (n.*698-24C>A) c.349-24C>A (n.349-24C>A) c.2119-24C>A (n.2119-24C>A) n.2134-24C>A | gnomAD v4 |
| 11 | g.68409890C>T | CA2614713403 | LRP5 | c.2092-24C>T (n.2092-24C>T) c.*698-24C>T (n.*698-24C>T) c.349-24C>T (n.349-24C>T) c.2119-24C>T (n.2119-24C>T) n.2134-24C>T | gnomAD v4 |
| 11 | g.68409891T>A | CA2614713405 | LRP5 | c.2092-23T>A (n.2092-23T>A) c.*698-23T>A (n.*698-23T>A) c.349-23T>A (n.349-23T>A) c.2119-23T>A (n.2119-23T>A) n.2134-23T>A | gnomAD v4 |
| 11 | g.68409891T>C | CA2574900883 | LRP5 | c.2092-23T>C (n.2092-23T>C) c.*698-23T>C (n.*698-23T>C) c.349-23T>C (n.349-23T>C) c.2119-23T>C (n.2119-23T>C) n.2134-23T>C | gnomAD v4 |
| 11 | g.68409894del | CA2574900882 | LRP5 | c.2092-20del (n.2092-20del) c.*698-20del (n.*698-20del) c.349-20del (n.349-20del) c.2119-20del (n.2119-20del) n.2134-20del | gnomAD v4 |
| 11 | g.68409893T>C | CA6149536 | LRP5 | c.2092-21T>C (n.2092-21T>C) c.*698-21T>C (n.*698-21T>C) c.349-21T>C (n.349-21T>C) c.2119-21T>C (n.2119-21T>C) n.2134-21T>C | dbSNP ExAC gnomAD v2 |
| 11 | g.68409893T= | CA1980594494 | LRP5 | c.2092-21T= (n.2092-21T=) c.*698-21T= (n.*698-21T=) c.349-21T= (n.349-21T=) c.2119-21T= (n.2119-21T=) n.2134-21T= | |
| 11 | g.68409895C>A | CA2614713406 | LRP5 | c.2092-19C>A (n.2092-19C>A) c.*698-19C>A (n.*698-19C>A) c.349-19C>A (n.349-19C>A) c.2119-19C>A (n.2119-19C>A) n.2134-19C>A | gnomAD v4 |
| 11 | g.68409896C>A | CA2614713407 | LRP5 | c.2092-18C>A (n.2092-18C>A) c.*698-18C>A (n.*698-18C>A) c.349-18C>A (n.349-18C>A) c.2119-18C>A (n.2119-18C>A) n.2134-18C>A | gnomAD v4 |
| 11 | g.68409896C>T | CA2614713408 | LRP5 | c.2092-18C>T (n.2092-18C>T) c.*698-18C>T (n.*698-18C>T) c.349-18C>T (n.349-18C>T) c.2119-18C>T (n.2119-18C>T) n.2134-18C>T | gnomAD v4 |
| 11 | g.68409897T>A | CA2614713409 | LRP5 | c.2092-17T>A (n.2092-17T>A) c.*698-17T>A (n.*698-17T>A) c.349-17T>A (n.349-17T>A) c.2119-17T>A (n.2119-17T>A) n.2134-17T>A | gnomAD v4 |
| 11 | g.68409897T>C | CA2614713410 | LRP5 | c.2092-17T>C (n.2092-17T>C) c.*698-17T>C (n.*698-17T>C) c.349-17T>C (n.349-17T>C) c.2119-17T>C (n.2119-17T>C) n.2134-17T>C | gnomAD v4 |
| 11 | g.68409898C>A | CA2614713411 | LRP5 | c.2092-16C>A (n.2092-16C>A) c.*698-16C>A (n.*698-16C>A) c.349-16C>A (n.349-16C>A) c.2119-16C>A (n.2119-16C>A) n.2134-16C>A | gnomAD v4 |
| 11 | g.68409898C= | CA1980594497 | LRP5 | c.2092-16C= (n.2092-16C=) c.*698-16C= (n.*698-16C=) c.349-16C= (n.349-16C=) c.2119-16C= (n.2119-16C=) n.2134-16C= | |
| 11 | g.68409898C>T | CA6149537 | LRP5 | c.2092-16C>T (n.2092-16C>T) c.*698-16C>T (n.*698-16C>T) c.349-16C>T (n.349-16C>T) c.2119-16C>T (n.2119-16C>T) n.2134-16C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68409899C>A | CA2554709039 | LRP5 | c.2092-15C>A (n.2092-15C>A) c.*698-15C>A (n.*698-15C>A) c.349-15C>A (n.349-15C>A) c.2119-15C>A (n.2119-15C>A) n.2134-15C>A | gnomAD v4 |
| 11 | g.68409899C= | CA1980594501 | LRP5 | c.2092-15C= (n.2092-15C=) c.*698-15C= (n.*698-15C=) c.349-15C= (n.349-15C=) c.2119-15C= (n.2119-15C=) n.2134-15C= | |
| 11 | g.68409899C>T | CA1980594499 | LRP5 | c.2092-15C>T (n.2092-15C>T) c.*698-15C>T (n.*698-15C>T) c.349-15C>T (n.349-15C>T) c.2119-15C>T (n.2119-15C>T) n.2134-15C>T | dbSNP |
| 11 | g.68409900T>A | CA2614713412 | LRP5 | c.2092-14T>A (n.2092-14T>A) c.*698-14T>A (n.*698-14T>A) c.349-14T>A (n.349-14T>A) c.2119-14T>A (n.2119-14T>A) n.2134-14T>A | gnomAD v4 |
| 11 | g.68409900T>C | CA2614713413 | LRP5 | c.2092-14T>C (n.2092-14T>C) c.*698-14T>C (n.*698-14T>C) c.349-14T>C (n.349-14T>C) c.2119-14T>C (n.2119-14T>C) n.2134-14T>C | gnomAD v4 |
| 11 | g.68409901C>A | CA2614713415 | LRP5 | c.2092-13C>A (n.2092-13C>A) c.*698-13C>A (n.*698-13C>A) c.349-13C>A (n.349-13C>A) c.2119-13C>A (n.2119-13C>A) n.2134-13C>A | gnomAD v4 |
| 11 | g.68409901C>T | CA2614713414 | LRP5 | c.2092-13C>T (n.2092-13C>T) c.*698-13C>T (n.*698-13C>T) c.349-13C>T (n.349-13C>T) c.2119-13C>T (n.2119-13C>T) n.2134-13C>T | gnomAD v4 |
| 11 | g.68409902A= | CA1980594502 | LRP5 | c.2092-12A= (n.2092-12A=) c.*698-12A= (n.*698-12A=) c.349-12A= (n.349-12A=) c.2119-12A= (n.2119-12A=) n.2134-12A= | |
| 11 | g.68409902A>C | CA1980594503 | LRP5 | c.2092-12A>C (n.2092-12A>C) c.*698-12A>C (n.*698-12A>C) c.349-12A>C (n.349-12A>C) c.2119-12A>C (n.2119-12A>C) n.2134-12A>C | dbSNP |
| 11 | g.68409902A>G | CA2614713416 | LRP5 | c.2092-12A>G (n.2092-12A>G) c.*698-12A>G (n.*698-12A>G) c.349-12A>G (n.349-12A>G) c.2119-12A>G (n.2119-12A>G) n.2134-12A>G | gnomAD v4 |
| 11 | g.68409902A>T | CA1980594504 | LRP5 | c.2092-12A>T (n.2092-12A>T) c.*698-12A>T (n.*698-12A>T) c.349-12A>T (n.349-12A>T) c.2119-12A>T (n.2119-12A>T) n.2134-12A>T | dbSNP |
| 11 | g.68409903C>A | CA2574900884 | LRP5 | c.2092-11C>A (n.2092-11C>A) c.*698-11C>A (n.*698-11C>A) c.349-11C>A (n.349-11C>A) c.2119-11C>A (n.2119-11C>A) n.2134-11C>A | ClinVar gnomAD v4 |
| 11 | g.68409903C= | CA1980594506 | LRP5 | c.2092-11C= (n.2092-11C=) c.*698-11C= (n.*698-11C=) c.349-11C= (n.349-11C=) c.2119-11C= (n.2119-11C=) n.2134-11C= | |
| 11 | g.68409903C>T | CA6149538 | LRP5 | c.2092-11C>T (n.2092-11C>T) c.*698-11C>T (n.*698-11C>T) c.349-11C>T (n.349-11C>T) c.2119-11C>T (n.2119-11C>T) n.2134-11C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68409904C>A | CA224270041 | LRP5 | c.2092-10C>A (n.2092-10C>A) c.*698-10C>A (n.*698-10C>A) c.349-10C>A (n.349-10C>A) c.2119-10C>A (n.2119-10C>A) n.2134-10C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68409904C= | CA1980594508 | LRP5 | c.2092-10C= (n.2092-10C=) c.*698-10C= (n.*698-10C=) c.349-10C= (n.349-10C=) c.2119-10C= (n.2119-10C=) n.2134-10C= | |
| 11 | g.68409904C>G | CA600239088 | LRP5 | c.2092-10C>G (n.2092-10C>G) c.*698-10C>G (n.*698-10C>G) c.349-10C>G (n.349-10C>G) c.2119-10C>G (n.2119-10C>G) n.2134-10C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68409904C>T | CA679608133 | LRP5 | c.2092-10C>T (n.2092-10C>T) c.*698-10C>T (n.*698-10C>T) c.349-10C>T (n.349-10C>T) c.2119-10C>T (n.2119-10C>T) n.2134-10C>T | dbSNP gnomAD v4 |
| 11 | g.68409906G>A | CA224270044 | LRP5 | c.2092-8G>A (n.2092-8G>A) c.*698-8G>A (n.*698-8G>A) c.349-8G>A (n.349-8G>A) c.2119-8G>A (n.2119-8G>A) n.2134-8G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68409906G>C | CA679608138 | LRP5 | c.2092-8G>C (n.2092-8G>C) c.*698-8G>C (n.*698-8G>C) c.349-8G>C (n.349-8G>C) c.2119-8G>C (n.2119-8G>C) n.2134-8G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68409906G= | CA1980594513 | LRP5 | c.2092-8G= (n.2092-8G=) c.*698-8G= (n.*698-8G=) c.349-8G= (n.349-8G=) c.2119-8G= (n.2119-8G=) n.2134-8G= | |
| 11 | g.68409906G>T | CA2614713417 | LRP5 | c.2092-8G>T (n.2092-8G>T) c.*698-8G>T (n.*698-8G>T) c.349-8G>T (n.349-8G>T) c.2119-8G>T (n.2119-8G>T) n.2134-8G>T | gnomAD v4 |
| 11 | g.68409907C>A | CA2574900885 | LRP5 | c.2092-7C>A (n.2092-7C>A) c.*698-7C>A (n.*698-7C>A) c.349-7C>A (n.349-7C>A) c.2119-7C>A (n.2119-7C>A) n.2134-7C>A | ClinVar gnomAD v4 |
| 11 | g.68409907C>T | CA2614713418 | LRP5 | c.2092-7C>T (n.2092-7C>T) c.*698-7C>T (n.*698-7C>T) c.349-7C>T (n.349-7C>T) c.2119-7C>T (n.2119-7C>T) n.2134-7C>T | gnomAD v4 |
| 11 | g.68409909G>A | CA2516809841 | LRP5 | c.2092-5G>A (n.2092-5G>A) c.*698-5G>A (n.*698-5G>A) c.349-5G>A (n.349-5G>A) c.2119-5G>A (n.2119-5G>A) n.2134-5G>A | |
| 11 | g.68409910C>T | CA2499221261 | LRP5 | c.2092-4C>T (n.2092-4C>T) c.*698-4C>T (n.*698-4C>T) c.349-4C>T (n.349-4C>T) c.2119-4C>T (n.2119-4C>T) n.2134-4C>T | ClinVar dbSNP |
| 11 | g.68409912A>C | CA381616243 | LRP5 | c.2092-2A>C (n.2092-2A>C) c.*698-2A>C (n.*698-2A>C) c.349-2A>C (n.349-2A>C) c.2119-2A>C (n.2119-2A>C) n.2134-2A>C | |
| 11 | g.68409912A>G | CA381616244 | LRP5 | c.2092-2A>G (n.2092-2A>G) c.*698-2A>G (n.*698-2A>G) c.349-2A>G (n.349-2A>G) c.2119-2A>G (n.2119-2A>G) n.2134-2A>G | |
| 11 | g.68409912A>T | CA381616245 | LRP5 | c.2092-2A>T (n.2092-2A>T) c.*698-2A>T (n.*698-2A>T) c.349-2A>T (n.349-2A>T) c.2119-2A>T (n.2119-2A>T) n.2134-2A>T | |
| 11 | g.68409913G>A | CA381616248 | LRP5 | c.2092-1G>A (n.2092-1G>A) c.*698-1G>A (n.*698-1G>A) c.349-1G>A (n.349-1G>A) c.2119-1G>A (n.2119-1G>A) n.2134-1G>A | |
| 11 | g.68409913G>C | CA381616246 | LRP5 | c.2092-1G>C (n.2092-1G>C) c.*698-1G>C (n.*698-1G>C) c.349-1G>C (n.349-1G>C) c.2119-1G>C (n.2119-1G>C) n.2134-1G>C | |
| 11 | g.68409913G>T | CA381616247 | LRP5 | c.2092-1G>T (n.2092-1G>T) c.*698-1G>T (n.*698-1G>T) c.349-1G>T (n.349-1G>T) c.2119-1G>T (n.2119-1G>T) n.2134-1G>T | |
| 11 | g.68409914A= | CA1980594516 | LRP5 | c.2092A= (p.Thr698=) c.*698A= (n.*698A=) c.349A= (p.Thr117=) c.2119A= (p.Thr707=) n.2134A= | |
| 11 | g.68409914A>C | CA381616249 | LRP5 | c.2092A>C (p.Thr698Pro) c.*698A>C (n.*698A>C) c.349A>C (p.Thr117Pro) c.2119A>C (p.Thr707Pro) n.2134A>C | |
| 11 | g.68409914A>G | CA381616250 | LRP5 | c.2092A>G (p.Thr698Ala) c.*698A>G (n.*698A>G) c.349A>G (p.Thr117Ala) c.2119A>G (p.Thr707Ala) n.2134A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68409914A>T | CA381616251 | LRP5 | c.2092A>T (p.Thr698Ser) c.*698A>T (n.*698A>T) c.349A>T (p.Thr117Ser) c.2119A>T (p.Thr707Ser) n.2134A>T | |
| 11 | g.68409915C>A | CA381616252 | LRP5 | c.2093C>A (p.Thr698Asn) c.*699C>A (n.*699C>A) c.350C>A (p.Thr117Asn) c.2120C>A (p.Thr707Asn) n.2135C>A | |
| 11 | g.68409915C>G | CA381616253 | LRP5 | c.2093C>G (p.Thr698Ser) c.*699C>G (n.*699C>G) c.350C>G (p.Thr117Ser) c.2120C>G (p.Thr707Ser) n.2135C>G | |
| 11 | g.68409915C>T | CA381616254 | LRP5 | c.2093C>T (p.Thr698Ile) c.*699C>T (n.*699C>T) c.350C>T (p.Thr117Ile) c.2120C>T (p.Thr707Ile) n.2135C>T | gnomAD v4 |
| 11 | g.68409916C>A | CA475462979 | LRP5 | c.2094C>A (p.Thr698=) c.*700C>A (n.*700C>A) c.351C>A (p.Thr117=) c.2121C>A (p.Thr707=) n.2136C>A | |
| 11 | g.68409916C= | CA1980594517 | LRP5 | c.2094C= (p.Thr698=) c.*700C= (n.*700C=) c.351C= (p.Thr117=) c.2121C= (p.Thr707=) n.2136C= | |
| 11 | g.68409916C>G | CA475462977 | LRP5 | c.2094C>G (p.Thr698=) c.*700C>G (n.*700C>G) c.351C>G (p.Thr117=) c.2121C>G (p.Thr707=) n.2136C>G | gnomAD v4 |
| 11 | g.68409916C>T | CA224270047 | LRP5 | c.2094C>T (p.Thr698=) c.*700C>T (n.*700C>T) c.351C>T (p.Thr117=) c.2121C>T (p.Thr707=) n.2136C>T | dbSNP |
| 11 | g.68409917A>C | CA381616255 | LRP5 | c.2095A>C (p.Ile699Leu) c.*701A>C (n.*701A>C) c.352A>C (p.Ile118Leu) c.2122A>C (p.Ile708Leu) n.2137A>C | |
| 11 | g.68409917A>G | CA381616256 | LRP5 | c.2095A>G (p.Ile699Val) c.*701A>G (n.*701A>G) c.352A>G (p.Ile118Val) c.2122A>G (p.Ile708Val) n.2137A>G | gnomAD v4 |
| 11 | g.68409917A>T | CA381616257 | LRP5 | c.2095A>T (p.Ile699Phe) c.*701A>T (n.*701A>T) c.352A>T (p.Ile118Phe) c.2122A>T (p.Ile708Phe) n.2137A>T | |
| 11 | g.68409918T>A | CA381616258 | LRP5 | c.2096T>A (p.Ile699Asn) c.*702T>A (n.*702T>A) c.353T>A (p.Ile118Asn) c.2123T>A (p.Ile708Asn) n.2138T>A | |
| 11 | g.68409918T>C | CA381616259 | LRP5 | c.2096T>C (p.Ile699Thr) c.*702T>C (n.*702T>C) c.353T>C (p.Ile118Thr) c.2123T>C (p.Ile708Thr) n.2138T>C | |
| 11 | g.68409918T>G | CA381616260 | LRP5 | c.2096T>G (p.Ile699Ser) c.*702T>G (n.*702T>G) c.353T>G (p.Ile118Ser) c.2123T>G (p.Ile708Ser) n.2138T>G | |
| 11 | g.68409919C>A | CA475462985 | LRP5 | c.2097C>A (p.Ile699=) c.*703C>A (n.*703C>A) c.354C>A (p.Ile118=) c.2124C>A (p.Ile708=) n.2139C>A | |
| 11 | g.68409919C>G | CA381616261 | LRP5 | c.2097C>G (p.Ile699Met) c.*703C>G (n.*703C>G) c.354C>G (p.Ile118Met) c.2124C>G (p.Ile708Met) n.2139C>G | |
| 11 | g.68409919C>T | CA475462987 | LRP5 | c.2097C>T (p.Ile699=) c.*703C>T (n.*703C>T) c.354C>T (p.Ile118=) c.2124C>T (p.Ile708=) n.2139C>T | |
| 11 | g.68409920A>C | CA381616264 | LRP5 | c.2098A>C (p.Ser700Arg) c.*704A>C (n.*704A>C) c.355A>C (p.Ser119Arg) c.2125A>C (p.Ser709Arg) n.2140A>C | |
| 11 | g.68409920A>G | CA381616262 | LRP5 | c.2098A>G (p.Ser700Gly) c.*704A>G (n.*704A>G) c.355A>G (p.Ser119Gly) c.2125A>G (p.Ser709Gly) n.2140A>G | |
| 11 | g.68409920A>T | CA381616263 | LRP5 | c.2098A>T (p.Ser700Cys) c.*704A>T (n.*704A>T) c.355A>T (p.Ser119Cys) c.2125A>T (p.Ser709Cys) n.2140A>T | |
| 11 | g.68409921G>A | CA381616265 | LRP5 | c.2099G>A (p.Ser700Asn) c.*705G>A (n.*705G>A) c.356G>A (p.Ser119Asn) c.2126G>A (p.Ser709Asn) n.2141G>A | |
| 11 | g.68409921G>C | CA381616266 | LRP5 | c.2099G>C (p.Ser700Thr) c.*705G>C (n.*705G>C) c.356G>C (p.Ser119Thr) c.2126G>C (p.Ser709Thr) n.2141G>C | |
| 11 | g.68409921G>T | CA381616267 | LRP5 | c.2099G>T (p.Ser700Ile) c.*705G>T (n.*705G>T) c.356G>T (p.Ser119Ile) c.2126G>T (p.Ser709Ile) n.2141G>T | |
| 11 | g.68409922C>A | CA381616268 | LRP5 | c.2100C>A (p.Ser700Arg) c.*706C>A (n.*706C>A) c.357C>A (p.Ser119Arg) c.2127C>A (p.Ser709Arg) n.2142C>A | |
| 11 | g.68409922C= | CA1980594521 | LRP5 | c.2100C= (p.Ser700=) c.*706C= (n.*706C=) c.357C= (p.Ser119=) c.2127C= (p.Ser709=) n.2142C= | |
| 11 | g.68409922C>G | CA381616269 | LRP5 | c.2100C>G (p.Ser700Arg) c.*706C>G (n.*706C>G) c.357C>G (p.Ser119Arg) c.2127C>G (p.Ser709Arg) n.2142C>G | |
| 11 | g.68409922C>T | CA475462992 | LRP5 | c.2100C>T (p.Ser700=) c.*706C>T (n.*706C>T) c.357C>T (p.Ser119=) c.2127C>T (p.Ser709=) n.2142C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68409923C>A | CA381616270 | LRP5 | c.2101C>A (p.Arg701Ser) c.*707C>A (n.*707C>A) c.358C>A (p.Arg120Ser) c.2128C>A (p.Arg710Ser) n.2143C>A | |
| 11 | g.68409923C= | CA1980594526 | LRP5 | c.2101C= (p.Arg701=) c.*707C= (n.*707C=) c.358C= (p.Arg120=) c.2128C= (p.Arg710=) n.2143C= | |
| 11 | g.68409923C>G | CA381616271 | LRP5 | c.2101C>G (p.Arg701Gly) c.*707C>G (n.*707C>G) c.358C>G (p.Arg120Gly) c.2128C>G (p.Arg710Gly) n.2143C>G | |
| 11 | g.68409923C>T | CA224270049 | LRP5 | c.2101C>T (p.Arg701Cys) c.*707C>T (n.*707C>T) c.358C>T (p.Arg120Cys) c.2128C>T (p.Arg710Cys) n.2143C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68409924G>A | CA6149539 | LRP5 | c.2102G>A (p.Arg701His) c.*708G>A (n.*708G>A) c.359G>A (p.Arg120His) c.2129G>A (p.Arg710His) n.2144G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68409924G>C | CA381616272 | LRP5 | c.2102G>C (p.Arg701Pro) c.*708G>C (n.*708G>C) c.359G>C (p.Arg120Pro) c.2129G>C (p.Arg710Pro) n.2144G>C | |
| 11 | g.68409924G= | CA1980594531 | LRP5 | c.2102G= (p.Arg701=) c.*708G= (n.*708G=) c.359G= (p.Arg120=) c.2129G= (p.Arg710=) n.2144G= | |
| 11 | g.68409924G>T | CA381616273 | LRP5 | c.2102G>T (p.Arg701Leu) c.*708G>T (n.*708G>T) c.359G>T (p.Arg120Leu) c.2129G>T (p.Arg710Leu) n.2144G>T | |
| 11 | g.68409925C>A | CA475462994 | LRP5 | c.2103C>A (p.Arg701=) c.*709C>A (n.*709C>A) c.360C>A (p.Arg120=) c.2130C>A (p.Arg710=) n.2145C>A | |
| 11 | g.68409925C= | CA1980594535 | LRP5 | c.2103C= (p.Arg701=) c.*709C= (n.*709C=) c.360C= (p.Arg120=) c.2130C= (p.Arg710=) n.2145C= | |
| 11 | g.68409925C>G | CA475462995 | LRP5 | c.2103C>G (p.Arg701=) c.*709C>G (n.*709C>G) c.360C>G (p.Arg120=) c.2130C>G (p.Arg710=) n.2145C>G | |
| 11 | g.68409925C>T | CA6149540 | LRP5 | c.2103C>T (p.Arg701=) c.*709C>T (n.*709C>T) c.360C>T (p.Arg120=) c.2130C>T (p.Arg710=) n.2145C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68409926del | CA2574900886 | LRP5 | c.2104del (p.Ala702ProfsTer3) c.*710del (n.*710del) c.361del (p.Ala121ProfsTer3) c.2131del (p.Ala711ProfsTer3) n.2146del | |
| 11 | g.68409926G>A | CA6149541 | LRP5 | c.2104G>A (p.Ala702Thr) c.*710G>A (n.*710G>A) c.361G>A (p.Ala121Thr) c.2131G>A (p.Ala711Thr) n.2146G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68409926G>C | CA381616275 | LRP5 | c.2104G>C (p.Ala702Pro) c.*710G>C (n.*710G>C) c.361G>C (p.Ala121Pro) c.2131G>C (p.Ala711Pro) n.2146G>C | ClinVar |
| 11 | g.68409926G= | CA1980594539 | LRP5 | c.2104G= (p.Ala702=) c.*710G= (n.*710G=) c.361G= (p.Ala121=) c.2131G= (p.Ala711=) n.2146G= | |
| 11 | g.68409926G>T | CA381616274 | LRP5 | c.2104G>T (p.Ala702Ser) c.*710G>T (n.*710G>T) c.361G>T (p.Ala121Ser) c.2131G>T (p.Ala711Ser) n.2146G>T | |
| 11 | g.68409927C>A | CA381616276 | LRP5 | c.2105C>A (p.Ala702Asp) c.*711C>A (n.*711C>A) c.362C>A (p.Ala121Asp) c.2132C>A (p.Ala711Asp) n.2147C>A | |
| 11 | g.68409927C>G | CA381616277 | LRP5 | c.2105C>G (p.Ala702Gly) c.*711C>G (n.*711C>G) c.362C>G (p.Ala121Gly) c.2132C>G (p.Ala711Gly) n.2147C>G | |
| 11 | g.68409927C>T | CA381616278 | LRP5 | c.2105C>T (p.Ala702Val) c.*711C>T (n.*711C>T) c.362C>T (p.Ala121Val) c.2132C>T (p.Ala711Val) n.2147C>T | |
| 11 | g.68409928C>A | CA475463003 | LRP5 | c.2106C>A (p.Ala702=) c.*712C>A (n.*712C>A) c.363C>A (p.Ala121=) c.2133C>A (p.Ala711=) n.2148C>A | |
| 11 | g.68409928C>G | CA475462999 | LRP5 | c.2106C>G (p.Ala702=) c.*712C>G (n.*712C>G) c.363C>G (p.Ala121=) c.2133C>G (p.Ala711=) n.2148C>G | |
| 11 | g.68409928C>T | CA475463001 | LRP5 | c.2106C>T (p.Ala702=) c.*712C>T (n.*712C>T) c.363C>T (p.Ala121=) c.2133C>T (p.Ala711=) n.2148C>T | |
| 11 | g.68409929T>A | CA381616279 | LRP5 | c.2107T>A (p.Phe703Ile) c.*713T>A (n.*713T>A) c.364T>A (p.Phe122Ile) c.2134T>A (p.Phe712Ile) n.2149T>A | |
| 11 | g.68409929T>C | CA381616280 | LRP5 | c.2107T>C (p.Phe703Leu) c.*713T>C (n.*713T>C) c.364T>C (p.Phe122Leu) c.2134T>C (p.Phe712Leu) n.2149T>C | ClinVar gnomAD v4 |
| 11 | g.68409929T>G | CA6149542 | LRP5 | c.2107T>G (p.Phe703Val) c.*713T>G (n.*713T>G) c.364T>G (p.Phe122Val) c.2134T>G (p.Phe712Val) n.2149T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68409929T= | CA1980594541 | LRP5 | c.2107T= (p.Phe703=) c.*713T= (n.*713T=) c.364T= (p.Phe122=) c.2134T= (p.Phe712=) n.2149T= | |
| 11 | g.68409930T>A | CA381616281 | LRP5 | c.2108T>A (p.Phe703Tyr) c.*714T>A (n.*714T>A) c.365T>A (p.Phe122Tyr) c.2135T>A (p.Phe712Tyr) n.2150T>A | |
| 11 | g.68409930T>C | CA381616282 | LRP5 | c.2108T>C (p.Phe703Ser) c.*714T>C (n.*714T>C) c.365T>C (p.Phe122Ser) c.2135T>C (p.Phe712Ser) n.2150T>C | |
| 11 | g.68409930T>G | CA381616283 | LRP5 | c.2108T>G (p.Phe703Cys) c.*714T>G (n.*714T>G) c.365T>G (p.Phe122Cys) c.2135T>G (p.Phe712Cys) n.2150T>G | |
| 11 | g.68409931C>A | CA381616284 | LRP5 | c.2109C>A (p.Phe703Leu) c.*715C>A (n.*715C>A) c.366C>A (p.Phe122Leu) c.2136C>A (p.Phe712Leu) n.2151C>A | |
| 11 | g.68409931C>G | CA381616285 | LRP5 | c.2109C>G (p.Phe703Leu) c.*715C>G (n.*715C>G) c.366C>G (p.Phe122Leu) c.2136C>G (p.Phe712Leu) n.2151C>G | |
| 11 | g.68409931C>T | CA475463008 | LRP5 | c.2109C>T (p.Phe703=) c.*715C>T (n.*715C>T) c.366C>T (p.Phe122=) c.2136C>T (p.Phe712=) n.2151C>T | |
| 11 | g.68409932A>C | CA381616288 | LRP5 | c.2110A>C (p.Met704Leu) c.*716A>C (n.*716A>C) c.367A>C (p.Met123Leu) c.2137A>C (p.Met713Leu) n.2152A>C | |
| 11 | g.68409932A>G | CA381616287 | LRP5 | c.2110A>G (p.Met704Val) c.*716A>G (n.*716A>G) c.367A>G (p.Met123Val) c.2137A>G (p.Met713Val) n.2152A>G | gnomAD v4 |
| 11 | g.68409932A>T | CA381616286 | LRP5 | c.2110A>T (p.Met704Leu) c.*716A>T (n.*716A>T) c.367A>T (p.Met123Leu) c.2137A>T (p.Met713Leu) n.2152A>T | |
| 11 | g.68409933T>A | CA381616289 | LRP5 | c.2111T>A (p.Met704Lys) c.*717T>A (n.*717T>A) c.368T>A (p.Met123Lys) c.2138T>A (p.Met713Lys) n.2153T>A | |
| 11 | g.68409933T>C | CA381616291 | LRP5 | c.2111T>C (p.Met704Thr) c.*717T>C (n.*717T>C) c.368T>C (p.Met123Thr) c.2138T>C (p.Met713Thr) n.2153T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.68409933T>G | CA381616290 | LRP5 | c.2111T>G (p.Met704Arg) c.*717T>G (n.*717T>G) c.368T>G (p.Met123Arg) c.2138T>G (p.Met713Arg) n.2153T>G | |
| 11 | g.68409933T= | CA1980594544 | LRP5 | c.2111T= (p.Met704=) c.*717T= (n.*717T=) c.368T= (p.Met123=) c.2138T= (p.Met713=) n.2153T= | |
| 11 | g.68409934G>A | CA381616292 | LRP5 | c.2112G>A (p.Met704Ile) c.*718G>A (n.*718G>A) c.369G>A (p.Met123Ile) c.2139G>A (p.Met713Ile) n.2154G>A | |
| 11 | g.68409934G>C | CA381616294 | LRP5 | c.2112G>C (p.Met704Ile) c.*718G>C (n.*718G>C) c.369G>C (p.Met123Ile) c.2139G>C (p.Met713Ile) n.2154G>C | |
| 11 | g.68409934G>T | CA381616293 | LRP5 | c.2112G>T (p.Met704Ile) c.*718G>T (n.*718G>T) c.369G>T (p.Met123Ile) c.2139G>T (p.Met713Ile) n.2154G>T | COSMIC |
| 11 | g.68409935A>C | CA381616295 | LRP5 | c.2113A>C (p.Asn705His) c.*719A>C (n.*719A>C) c.370A>C (p.Asn124His) c.2140A>C (p.Asn714His) n.2155A>C | |
| 11 | g.68409935A>G | CA381616297 | LRP5 | c.2113A>G (p.Asn705Asp) c.*719A>G (n.*719A>G) c.370A>G (p.Asn124Asp) c.2140A>G (p.Asn714Asp) n.2155A>G | |
| 11 | g.68409935A>T | CA381616296 | LRP5 | c.2113A>T (p.Asn705Tyr) c.*719A>T (n.*719A>T) c.370A>T (p.Asn124Tyr) c.2140A>T (p.Asn714Tyr) n.2155A>T | |
| 11 | g.68409936A>C | CA381616298 | LRP5 | c.2114A>C (p.Asn705Thr) c.*720A>C (n.*720A>C) c.371A>C (p.Asn124Thr) c.2141A>C (p.Asn714Thr) n.2156A>C | |
| 11 | g.68409936A>G | CA381616299 | LRP5 | c.2114A>G (p.Asn705Ser) c.*720A>G (n.*720A>G) c.371A>G (p.Asn124Ser) c.2141A>G (p.Asn714Ser) n.2156A>G | |
| 11 | g.68409936A>T | CA381616300 | LRP5 | c.2114A>T (p.Asn705Ile) c.*720A>T (n.*720A>T) c.371A>T (p.Asn124Ile) c.2141A>T (p.Asn714Ile) n.2156A>T | |
| 11 | g.68409937C>A | CA381616301 | LRP5 | c.2115C>A (p.Asn705Lys) c.*721C>A (n.*721C>A) c.372C>A (p.Asn124Lys) c.2142C>A (p.Asn714Lys) n.2157C>A | |
| 11 | g.68409937C= | CA1980594548 | LRP5 | c.2115C= (p.Asn705=) c.*721C= (n.*721C=) c.372C= (p.Asn124=) c.2142C= (p.Asn714=) n.2157C= | |
| 11 | g.68409937C>G | CA381616302 | LRP5 | c.2115C>G (p.Asn705Lys) c.*721C>G (n.*721C>G) c.372C>G (p.Asn124Lys) c.2142C>G (p.Asn714Lys) n.2157C>G | |
| 11 | g.68409937C>T | CA6149543 | LRP5 | c.2115C>T (p.Asn705=) c.*721C>T (n.*721C>T) c.372C>T (p.Asn124=) c.2142C>T (p.Asn714=) n.2157C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68409937dup | CA2614713419 | LRP5 | c.2115dup (p.Gly706ArgfsTer13) c.*721dup (n.*721dup) c.372dup (p.Gly125ArgfsTer13) c.2142dup (p.Gly715ArgfsTer13) n.2157dup | gnomAD v4 |
| 11 | g.68409938G>A | CA381616303 | LRP5 | c.2116G>A (p.Gly706Arg) c.*722G>A (n.*722G>A) c.373G>A (p.Gly125Arg) c.2143G>A (p.Gly715Arg) n.2158G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68409938G>C | CA381616304 | LRP5 | c.2116G>C (p.Gly706Arg) c.*722G>C (n.*722G>C) c.373G>C (p.Gly125Arg) c.2143G>C (p.Gly715Arg) n.2158G>C | |
| 11 | g.68409938G= | CA1980594551 | LRP5 | c.2116G= (p.Gly706=) c.*722G= (n.*722G=) c.373G= (p.Gly125=) c.2143G= (p.Gly715=) n.2158G= | |
| 11 | g.68409938G>T | CA381616305 | LRP5 | c.2116G>T (p.Gly706Trp) c.*722G>T (n.*722G>T) c.373G>T (p.Gly125Trp) c.2143G>T (p.Gly715Trp) n.2158G>T | |
| 11 | g.68409939G>A | CA381616308 | LRP5 | c.2117G>A (p.Gly706Glu) c.*723G>A (n.*723G>A) c.374G>A (p.Gly125Glu) c.2144G>A (p.Gly715Glu) n.2159G>A | gnomAD v4 |
| 11 | g.68409939G>C | CA381616307 | LRP5 | c.2117G>C (p.Gly706Ala) c.*723G>C (n.*723G>C) c.374G>C (p.Gly125Ala) c.2144G>C (p.Gly715Ala) n.2159G>C | |
| 11 | g.68409939G>T | CA381616306 | LRP5 | c.2117G>T (p.Gly706Val) c.*723G>T (n.*723G>T) c.374G>T (p.Gly125Val) c.2144G>T (p.Gly715Val) n.2159G>T | |
| 11 | g.68409940G>A | CA475463020 | LRP5 | c.2118G>A (p.Gly706=) c.*724G>A (n.*724G>A) c.375G>A (p.Gly125=) c.2145G>A (p.Gly715=) n.2160G>A | |
| 11 | g.68409940G>C | CA475463021 | LRP5 | c.2118G>C (p.Gly706=) c.*724G>C (n.*724G>C) c.375G>C (p.Gly125=) c.2145G>C (p.Gly715=) n.2160G>C | gnomAD v4 |
| 11 | g.68409940G= | CA1980594555 | LRP5 | c.2118G= (p.Gly706=) c.*724G= (n.*724G=) c.375G= (p.Gly125=) c.2145G= (p.Gly715=) n.2160G= | |
| 11 | g.68409940G>T | CA475463023 | LRP5 | c.2118G>T (p.Gly706=) c.*724G>T (n.*724G>T) c.375G>T (p.Gly125=) c.2145G>T (p.Gly715=) n.2160G>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68409941A>C | CA381616309 | LRP5 | c.2119A>C (p.Ser707Arg) c.*725A>C (n.*725A>C) c.376A>C (p.Ser126Arg) c.2146A>C (p.Ser716Arg) n.2161A>C | |
| 11 | g.68409941A>G | CA381616310 | LRP5 | c.2119A>G (p.Ser707Gly) c.*725A>G (n.*725A>G) c.376A>G (p.Ser126Gly) c.2146A>G (p.Ser716Gly) n.2161A>G | |
| 11 | g.68409941A>T | CA381616311 | LRP5 | c.2119A>T (p.Ser707Cys) c.*725A>T (n.*725A>T) c.376A>T (p.Ser126Cys) c.2146A>T (p.Ser716Cys) n.2161A>T | |
| 11 | g.68409942G>A | CA381616312 | LRP5 | c.2120G>A (p.Ser707Asn) c.*726G>A (n.*726G>A) c.377G>A (p.Ser126Asn) c.2147G>A (p.Ser716Asn) n.2162G>A | |
| 11 | g.68409942G>C | CA381616313 | LRP5 | c.2120G>C (p.Ser707Thr) c.*726G>C (n.*726G>C) c.377G>C (p.Ser126Thr) c.2147G>C (p.Ser716Thr) n.2162G>C | |
| 11 | g.68409942G>T | CA381616314 | LRP5 | c.2120G>T (p.Ser707Ile) c.*726G>T (n.*726G>T) c.377G>T (p.Ser126Ile) c.2147G>T (p.Ser716Ile) n.2162G>T | |
| 11 | g.68409943C>A | CA381616315 | LRP5 | c.2121C>A (p.Ser707Arg) c.*727C>A (n.*727C>A) c.378C>A (p.Ser126Arg) c.2148C>A (p.Ser716Arg) n.2163C>A | |
| 11 | g.68409943C= | CA1980594558 | LRP5 | c.2121C= (p.Ser707=) c.*727C= (n.*727C=) c.378C= (p.Ser126=) c.2148C= (p.Ser716=) n.2163C= | |
| 11 | g.68409943C>G | CA381616316 | LRP5 | c.2121C>G (p.Ser707Arg) c.*727C>G (n.*727C>G) c.378C>G (p.Ser126Arg) c.2148C>G (p.Ser716Arg) n.2163C>G | |
| 11 | g.68409943C>T | CA475463027 | LRP5 | c.2121C>T (p.Ser707=) c.*727C>T (n.*727C>T) c.378C>T (p.Ser126=) c.2148C>T (p.Ser716=) n.2163C>T | dbSNP |
| 11 | g.68409944T>A | CA381616317 | LRP5 | c.2122T>A (p.Ser708Thr) c.*728T>A (n.*728T>A) c.379T>A (p.Ser127Thr) c.2149T>A (p.Ser717Thr) n.2164T>A | |
| 11 | g.68409944T>C | CA381616318 | LRP5 | c.2122T>C (p.Ser708Pro) c.*728T>C (n.*728T>C) c.379T>C (p.Ser127Pro) c.2149T>C (p.Ser717Pro) n.2164T>C | |
| 11 | g.68409944T>G | CA381616319 | LRP5 | c.2122T>G (p.Ser708Ala) c.*728T>G (n.*728T>G) c.379T>G (p.Ser127Ala) c.2149T>G (p.Ser717Ala) n.2164T>G | |
| 11 | g.68409945C>A | CA381616320 | LRP5 | c.2123C>A (p.Ser708Ter) c.*729C>A (n.*729C>A) c.380C>A (p.Ser127Ter) c.2150C>A (p.Ser717Ter) n.2165C>A | |
| 11 | g.68409945C= | CA1980594563 | LRP5 | c.2123C= (p.Ser708=) c.*729C= (n.*729C=) c.380C= (p.Ser127=) c.2150C= (p.Ser717=) n.2165C= | |
| 11 | g.68409945C>G | CA381616321 | LRP5 | c.2123C>G (p.Ser708Trp) c.*729C>G (n.*729C>G) c.380C>G (p.Ser127Trp) c.2150C>G (p.Ser717Trp) n.2165C>G | |
| 11 | g.68409945C>T | CA6149544 | LRP5 | c.2123C>T (p.Ser708Leu) c.*729C>T (n.*729C>T) c.380C>T (p.Ser127Leu) c.2150C>T (p.Ser717Leu) n.2165C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68409947_68409956dup | CA2695214921 | LRP5 | c.2125_2134dup (p.Val712GlyfsTer10) c.*731_*740dup (n.*731_*740dup) c.382_391dup (p.Val131GlyfsTer10) c.2152_2161dup (p.Val721GlyfsTer10) n.2167_2176dup | |
| 11 | g.68409946G>A | CA6149545 | LRP5 | c.2124G>A (p.Ser708=) c.*730G>A (n.*730G>A) c.381G>A (p.Ser127=) c.2151G>A (p.Ser717=) n.2166G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68409946G>C | CA475463030 | LRP5 | c.2124G>C (p.Ser708=) c.*730G>C (n.*730G>C) c.381G>C (p.Ser127=) c.2151G>C (p.Ser717=) n.2166G>C | |
| 11 | g.68409946G= | CA1980594568 | LRP5 | c.2124G= (p.Ser708=) c.*730G= (n.*730G=) c.381G= (p.Ser127=) c.2151G= (p.Ser717=) n.2166G= | |
| 11 | g.68409946G>T | CA475463031 | LRP5 | c.2124G>T (p.Ser708=) c.*730G>T (n.*730G>T) c.381G>T (p.Ser127=) c.2151G>T (p.Ser717=) n.2166G>T | gnomAD v4 |
| 11 | g.68409947G>A | CA381616322 | LRP5 | c.2125G>A (p.Val709Met) c.*731G>A (n.*731G>A) c.382G>A (p.Val128Met) c.2152G>A (p.Val718Met) n.2167G>A | |
| 11 | g.68409947G>C | CA381616323 | LRP5 | c.2125G>C (p.Val709Leu) c.*731G>C (n.*731G>C) c.382G>C (p.Val128Leu) c.2152G>C (p.Val718Leu) n.2167G>C | |
| 11 | g.68409947G>T | CA381616324 | LRP5 | c.2125G>T (p.Val709Leu) c.*731G>T (n.*731G>T) c.382G>T (p.Val128Leu) c.2152G>T (p.Val718Leu) n.2167G>T | gnomAD v4 |
| 11 | g.68409948T>A | CA381616325 | LRP5 | c.2126T>A (p.Val709Glu) c.*732T>A (n.*732T>A) c.383T>A (p.Val128Glu) c.2153T>A (p.Val718Glu) n.2168T>A | |
| 11 | g.68409948T>C | CA381616326 | LRP5 | c.2126T>C (p.Val709Ala) c.*732T>C (n.*732T>C) c.383T>C (p.Val128Ala) c.2153T>C (p.Val718Ala) n.2168T>C | gnomAD v4 |
| 11 | g.68409948T>G | CA381616327 | LRP5 | c.2126T>G (p.Val709Gly) c.*732T>G (n.*732T>G) c.383T>G (p.Val128Gly) c.2153T>G (p.Val718Gly) n.2168T>G | |
| 11 | g.68409949G>A | CA475463032 | LRP5 | c.2127G>A (p.Val709=) c.*733G>A (n.*733G>A) c.384G>A (p.Val128=) c.2154G>A (p.Val718=) n.2169G>A | |
| 11 | g.68409949G>C | CA475463035 | LRP5 | c.2127G>C (p.Val709=) c.*733G>C (n.*733G>C) c.384G>C (p.Val128=) c.2154G>C (p.Val718=) n.2169G>C | |
| 11 | g.68409949G>T | CA475463033 | LRP5 | c.2127G>T (p.Val709=) c.*733G>T (n.*733G>T) c.384G>T (p.Val128=) c.2154G>T (p.Val718=) n.2169G>T | COSMIC |
| 11 | g.68409950G>A | CA381616328 | LRP5 | c.2128G>A (p.Glu710Lys) c.*734G>A (n.*734G>A) c.385G>A (p.Glu129Lys) c.2155G>A (p.Glu719Lys) n.2170G>A | |
| 11 | g.68409950G>C | CA381616329 | LRP5 | c.2128G>C (p.Glu710Gln) c.*734G>C (n.*734G>C) c.385G>C (p.Glu129Gln) c.2155G>C (p.Glu719Gln) n.2170G>C | |
| 11 | g.68409950G>T | CA381616330 | LRP5 | c.2128G>T (p.Glu710Ter) c.*734G>T (n.*734G>T) c.385G>T (p.Glu129Ter) c.2155G>T (p.Glu719Ter) n.2170G>T | |
| 11 | g.68409951A>C | CA381616331 | LRP5 | c.2129A>C (p.Glu710Ala) c.*735A>C (n.*735A>C) c.386A>C (p.Glu129Ala) c.2156A>C (p.Glu719Ala) n.2171A>C | gnomAD v4 |
| 11 | g.68409951A>G | CA381616332 | LRP5 | c.2129A>G (p.Glu710Gly) c.*735A>G (n.*735A>G) c.386A>G (p.Glu129Gly) c.2156A>G (p.Glu719Gly) n.2171A>G | |
| 11 | g.68409951A>T | CA381616333 | LRP5 | c.2129A>T (p.Glu710Val) c.*735A>T (n.*735A>T) c.386A>T (p.Glu129Val) c.2156A>T (p.Glu719Val) n.2171A>T | |
| 11 | g.68409952G>A | CA475463037 | LRP5 | c.2130G>A (p.Glu710=) c.*736G>A (n.*736G>A) c.387G>A (p.Glu129=) c.2157G>A (p.Glu719=) n.2172G>A | ClinVar |
| 11 | g.68409952G>C | CA381616334 | LRP5 | c.2130G>C (p.Glu710Asp) c.*736G>C (n.*736G>C) c.387G>C (p.Glu129Asp) c.2157G>C (p.Glu719Asp) n.2172G>C | |
| 11 | g.68409952G= | CA1980594575 | LRP5 | c.2130G= (p.Glu710=) c.*736G= (n.*736G=) c.387G= (p.Glu129=) c.2157G= (p.Glu719=) n.2172G= | |
| 11 | g.68409952G>T | CA381616335 | LRP5 | c.2130G>T (p.Glu710Asp) c.*736G>T (n.*736G>T) c.387G>T (p.Glu129Asp) c.2157G>T (p.Glu719Asp) n.2172G>T | |
| 11 | g.68409953C>A | CA381616336 | LRP5 | c.2131C>A (p.His711Asn) c.*737C>A (n.*737C>A) c.388C>A (p.His130Asn) c.2158C>A (p.His720Asn) n.2173C>A | |
| 11 | g.68409953C>G | CA381616337 | LRP5 | c.2131C>G (p.His711Asp) c.*737C>G (n.*737C>G) c.388C>G (p.His130Asp) c.2158C>G (p.His720Asp) n.2173C>G | |
| 11 | g.68409953C>T | CA381616338 | LRP5 | c.2131C>T (p.His711Tyr) c.*737C>T (n.*737C>T) c.388C>T (p.His130Tyr) c.2158C>T (p.His720Tyr) n.2173C>T | |
| 11 | g.68409954_68409955dup | CA658797702 | LRP5 | c.2132_2133dup (p.Val712ThrfsTer?) c.*738_*739dup (n.*738_*739dup) c.389_390dup (p.Val131ThrfsTer?) c.2159_2160dup (p.Val721ThrfsTer?) n.2174_2175dup | ClinVar dbSNP |
| 11 | g.68409954A>C | CA381616339 | LRP5 | c.2132A>C (p.His711Pro) c.*738A>C (n.*738A>C) c.389A>C (p.His130Pro) c.2159A>C (p.His720Pro) n.2174A>C | |
| 11 | g.68409954A>G | CA381616340 | LRP5 | c.2132A>G (p.His711Arg) c.*738A>G (n.*738A>G) c.389A>G (p.His130Arg) c.2159A>G (p.His720Arg) n.2174A>G | |
| 11 | g.68409954A>T | CA381616341 | LRP5 | c.2132A>T (p.His711Leu) c.*738A>T (n.*738A>T) c.389A>T (p.His130Leu) c.2159A>T (p.His720Leu) n.2174A>T | |
| 11 | g.68409955C>A | CA381616342 | LRP5 | c.2133C>A (p.His711Gln) c.*739C>A (n.*739C>A) c.390C>A (p.His130Gln) c.2160C>A (p.His720Gln) n.2175C>A | |
| 11 | g.68409955C= | CA1980594585 | LRP5 | c.2133C= (p.His711=) c.*739C= (n.*739C=) c.390C= (p.His130=) c.2160C= (p.His720=) n.2175C= | |
| 11 | g.68409955C>G | CA381616343 | LRP5 | c.2133C>G (p.His711Gln) c.*739C>G (n.*739C>G) c.390C>G (p.His130Gln) c.2160C>G (p.His720Gln) n.2175C>G | |
| 11 | g.68409955C>T | CA6149546 | LRP5 | c.2133C>T (p.His711=) c.*739C>T (n.*739C>T) c.390C>T (p.His130=) c.2160C>T (p.His720=) n.2175C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68409956G>A | CA6149547 | LRP5 | c.2134G>A (p.Val712Met) c.*740G>A (n.*740G>A) c.391G>A (p.Val131Met) c.2161G>A (p.Val721Met) n.2176G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.68409956G>C | CA381616344 | LRP5 | c.2134G>C (p.Val712Leu) c.*740G>C (n.*740G>C) c.391G>C (p.Val131Leu) c.2161G>C (p.Val721Leu) n.2176G>C | |
| 11 | g.68409956G= | CA1980594589 | LRP5 | c.2134G= (p.Val712=) c.*740G= (n.*740G=) c.391G= (p.Val131=) c.2161G= (p.Val721=) n.2176G= | |
| 11 | g.68409956G>T | CA381616345 | LRP5 | c.2134G>T (p.Val712Leu) c.*740G>T (n.*740G>T) c.391G>T (p.Val131Leu) c.2161G>T (p.Val721Leu) n.2176G>T | dbSNP |
| 11 | g.68409957T>A | CA381616348 | LRP5 | c.2135T>A (p.Val712Glu) c.*741T>A (n.*741T>A) c.392T>A (p.Val131Glu) c.2162T>A (p.Val721Glu) n.2177T>A | |
| 11 | g.68409957T>C | CA381616347 | LRP5 | c.2135T>C (p.Val712Ala) c.*741T>C (n.*741T>C) c.392T>C (p.Val131Ala) c.2162T>C (p.Val721Ala) n.2177T>C | |
| 11 | g.68409957T>G | CA381616346 | LRP5 | c.2135T>G (p.Val712Gly) c.*741T>G (n.*741T>G) c.392T>G (p.Val131Gly) c.2162T>G (p.Val721Gly) n.2177T>G | |
| 11 | g.68409958G>A | CA475463044 | LRP5 | c.2136G>A (p.Val712=) c.*742G>A (n.*742G>A) c.393G>A (p.Val131=) c.2163G>A (p.Val721=) n.2178G>A | |
| 11 | g.68409958G>C | CA475463045 | LRP5 | c.2136G>C (p.Val712=) c.*742G>C (n.*742G>C) c.393G>C (p.Val131=) c.2163G>C (p.Val721=) n.2178G>C | |
| 11 | g.68409958G>T | CA475463046 | LRP5 | c.2136G>T (p.Val712=) c.*742G>T (n.*742G>T) c.393G>T (p.Val131=) c.2163G>T (p.Val721=) n.2178G>T | |
| 11 | g.68409959G>A | CA381616349 | LRP5 | c.2137G>A (p.Val713Met) c.*743G>A (n.*743G>A) c.394G>A (p.Val132Met) c.2164G>A (p.Val722Met) n.2179G>A | |
| 11 | g.68409959G>C | CA6149548 | LRP5 | c.2137G>C (p.Val713Leu) c.*743G>C (n.*743G>C) c.394G>C (p.Val132Leu) c.2164G>C (p.Val722Leu) n.2179G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68409959G= | CA1980594590 | LRP5 | c.2137G= (p.Val713=) c.*743G= (n.*743G=) c.394G= (p.Val132=) c.2164G= (p.Val722=) n.2179G= | |
| 11 | g.68409959G>T | CA381616350 | LRP5 | c.2137G>T (p.Val713Leu) c.*743G>T (n.*743G>T) c.394G>T (p.Val132Leu) c.2164G>T (p.Val722Leu) n.2179G>T | |
| 11 | g.68409960T>A | CA381616351 | LRP5 | c.2138T>A (p.Val713Glu) c.*744T>A (n.*744T>A) c.395T>A (p.Val132Glu) c.2165T>A (p.Val722Glu) n.2180T>A | |
| 11 | g.68409960T>C | CA381616352 | LRP5 | c.2138T>C (p.Val713Ala) c.*744T>C (n.*744T>C) c.395T>C (p.Val132Ala) c.2165T>C (p.Val722Ala) n.2180T>C | gnomAD v4 |
| 11 | g.68409960T>G | CA381616353 | LRP5 | c.2138T>G (p.Val713Gly) c.*744T>G (n.*744T>G) c.395T>G (p.Val132Gly) c.2165T>G (p.Val722Gly) n.2180T>G | |
| 11 | g.68409961G>A | CA6149549 | LRP5 | c.2139G>A (p.Val713=) c.*745G>A (n.*745G>A) c.396G>A (p.Val132=) c.2166G>A (p.Val722=) n.2181G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68409961G>C | CA475463047 | LRP5 | c.2139G>C (p.Val713=) c.*745G>C (n.*745G>C) c.396G>C (p.Val132=) c.2166G>C (p.Val722=) n.2181G>C | gnomAD v4 |
| 11 | g.68409961G= | CA1980594591 | LRP5 | c.2139G= (p.Val713=) c.*745G= (n.*745G=) c.396G= (p.Val132=) c.2166G= (p.Val722=) n.2181G= | |
| 11 | g.68409961G>T | CA475463048 | LRP5 | c.2139G>T (p.Val713=) c.*745G>T (n.*745G>T) c.396G>T (p.Val132=) c.2166G>T (p.Val722=) n.2181G>T | |
| 11 | g.68409962G>A | CA381616354 | LRP5 | c.2140G>A (p.Glu714Lys) c.*746G>A (n.*746G>A) c.397G>A (p.Glu133Lys) c.2167G>A (p.Glu723Lys) n.2182G>A | |
| 11 | g.68409962G>C | CA381616355 | LRP5 | c.2140G>C (p.Glu714Gln) c.*746G>C (n.*746G>C) c.397G>C (p.Glu133Gln) c.2167G>C (p.Glu723Gln) n.2182G>C | |
| 11 | g.68409962G>T | CA381616356 | LRP5 | c.2140G>T (p.Glu714Ter) c.*746G>T (n.*746G>T) c.397G>T (p.Glu133Ter) c.2167G>T (p.Glu723Ter) n.2182G>T | |
| 11 | g.68409963A>C | CA381616357 | LRP5 | c.2141A>C (p.Glu714Ala) c.*747A>C (n.*747A>C) c.398A>C (p.Glu133Ala) c.2168A>C (p.Glu723Ala) n.2183A>C | |
| 11 | g.68409963A>G | CA381616358 | LRP5 | c.2141A>G (p.Glu714Gly) c.*747A>G (n.*747A>G) c.398A>G (p.Glu133Gly) c.2168A>G (p.Glu723Gly) n.2183A>G | |
| 11 | g.68409963A>T | CA381616359 | LRP5 | c.2141A>T (p.Glu714Val) c.*747A>T (n.*747A>T) c.398A>T (p.Glu133Val) c.2168A>T (p.Glu723Val) n.2183A>T | |
| 11 | g.68409963dup | CA2574900887 | LRP5 | c.2141dup (p.Phe715ValfsTer4) c.*747dup (n.*747dup) c.398dup (p.Phe134ValfsTer4) c.2168dup (p.Phe724ValfsTer4) n.2183dup | |
| 11 | g.68409964G>A | CA6149550 | LRP5 | c.2142G>A (p.Glu714=) c.*748G>A (n.*748G>A) c.399G>A (p.Glu133=) c.2169G>A (p.Glu723=) n.2184G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68409964G>C | CA381616361 | LRP5 | c.2142G>C (p.Glu714Asp) c.*748G>C (n.*748G>C) c.399G>C (p.Glu133Asp) c.2169G>C (p.Glu723Asp) n.2184G>C | |
| 11 | g.68409964G= | CA1980594594 | LRP5 | c.2142G= (p.Glu714=) c.*748G= (n.*748G=) c.399G= (p.Glu133=) c.2169G= (p.Glu723=) n.2184G= | |
| 11 | g.68409964G>T | CA381616360 | LRP5 | c.2142G>T (p.Glu714Asp) c.*748G>T (n.*748G>T) c.399G>T (p.Glu133Asp) c.2169G>T (p.Glu723Asp) n.2184G>T | |
| 11 | g.68409965T>A | CA381616362 | LRP5 | c.2143T>A (p.Phe715Ile) c.*749T>A (n.*749T>A) c.400T>A (p.Phe134Ile) c.2170T>A (p.Phe724Ile) n.2185T>A | |
| 11 | g.68409965T>C | CA381616363 | LRP5 | c.2143T>C (p.Phe715Leu) c.*749T>C (n.*749T>C) c.400T>C (p.Phe134Leu) c.2170T>C (p.Phe724Leu) n.2185T>C | |
| 11 | g.68409965T>G | CA381616364 | LRP5 | c.2143T>G (p.Phe715Val) c.*749T>G (n.*749T>G) c.400T>G (p.Phe134Val) c.2170T>G (p.Phe724Val) n.2185T>G | |
| 11 | g.68409966T>A | CA381616365 | LRP5 | c.2144T>A (p.Phe715Tyr) c.*750T>A (n.*750T>A) c.401T>A (p.Phe134Tyr) c.2171T>A (p.Phe724Tyr) n.2186T>A | |
| 11 | g.68409966T>C | CA381616366 | LRP5 | c.2144T>C (p.Phe715Ser) c.*750T>C (n.*750T>C) c.401T>C (p.Phe134Ser) c.2171T>C (p.Phe724Ser) n.2186T>C | gnomAD v4 |
| 11 | g.68409966T>G | CA381616367 | LRP5 | c.2144T>G (p.Phe715Cys) c.*750T>G (n.*750T>G) c.401T>G (p.Phe134Cys) c.2171T>G (p.Phe724Cys) n.2186T>G | |
| 11 | g.68409967T>A | CA381616368 | LRP5 | c.2145T>A (p.Phe715Leu) c.*751T>A (n.*751T>A) c.402T>A (p.Phe134Leu) c.2172T>A (p.Phe724Leu) n.2187T>A | |
| 11 | g.68409967T>C | CA475463049 | LRP5 | c.2145T>C (p.Phe715=) c.*751T>C (n.*751T>C) c.402T>C (p.Phe134=) c.2172T>C (p.Phe724=) n.2187T>C | |
| 11 | g.68409967T>G | CA381616369 | LRP5 | c.2145T>G (p.Phe715Leu) c.*751T>G (n.*751T>G) c.402T>G (p.Phe134Leu) c.2172T>G (p.Phe724Leu) n.2187T>G | |
| 11 | g.68409968G>A | CA381616370 | LRP5 | c.2146G>A (p.Gly716Ser) c.*752G>A (n.*752G>A) c.403G>A (p.Gly135Ser) c.2173G>A (p.Gly725Ser) n.2188G>A | |
| 11 | g.68409968G>C | CA381616371 | LRP5 | c.2146G>C (p.Gly716Arg) c.*752G>C (n.*752G>C) c.403G>C (p.Gly135Arg) c.2173G>C (p.Gly725Arg) n.2188G>C | |
| 11 | g.68409968G>T | CA381616372 | LRP5 | c.2146G>T (p.Gly716Cys) c.*752G>T (n.*752G>T) c.403G>T (p.Gly135Cys) c.2173G>T (p.Gly725Cys) n.2188G>T | dbSNP |
| 11 | g.68409969G>A | CA381616374 | LRP5 | c.2147G>A (p.Gly716Asp) c.*753G>A (n.*753G>A) c.404G>A (p.Gly135Asp) c.2174G>A (p.Gly725Asp) n.2189G>A | |
| 11 | g.68409969G>C | CA381616375 | LRP5 | c.2147G>C (p.Gly716Ala) c.*753G>C (n.*753G>C) c.404G>C (p.Gly135Ala) c.2174G>C (p.Gly725Ala) n.2189G>C | |
| 11 | g.68409969G>T | CA381616373 | LRP5 | c.2147G>T (p.Gly716Val) c.*753G>T (n.*753G>T) c.404G>T (p.Gly135Val) c.2174G>T (p.Gly725Val) n.2189G>T | |
| 11 | g.68409970C>A | CA475463052 | LRP5 | c.2148C>A (p.Gly716=) c.*754C>A (n.*754C>A) c.405C>A (p.Gly135=) c.2175C>A (p.Gly725=) n.2190C>A | |
| 11 | g.68409970C= | CA1980594595 | LRP5 | c.2148C= (p.Gly716=) c.*754C= (n.*754C=) c.405C= (p.Gly135=) c.2175C= (p.Gly725=) n.2190C= | |
| 11 | g.68409970C>G | CA475463051 | LRP5 | c.2148C>G (p.Gly716=) c.*754C>G (n.*754C>G) c.405C>G (p.Gly135=) c.2175C>G (p.Gly725=) n.2190C>G | |
| 11 | g.68409970C>T | CA475463050 | LRP5 | c.2148C>T (p.Gly716=) c.*754C>T (n.*754C>T) c.405C>T (p.Gly135=) c.2175C>T (p.Gly725=) n.2190C>T | dbSNP gnomAD v4 |
| 11 | g.68409971C>A | CA381616376 | LRP5 | c.2149C>A (p.Leu717Ile) c.*755C>A (n.*755C>A) c.406C>A (p.Leu136Ile) c.2176C>A (p.Leu726Ile) n.2191C>A | |
| 11 | g.68409971C= | CA1980594596 | LRP5 | c.2149C= (p.Leu717=) c.*755C= (n.*755C=) c.406C= (p.Leu136=) c.2176C= (p.Leu726=) n.2191C= | |
| 11 | g.68409971C>G | CA381616377 | LRP5 | c.2149C>G (p.Leu717Val) c.*755C>G (n.*755C>G) c.406C>G (p.Leu136Val) c.2176C>G (p.Leu726Val) n.2191C>G | |
| 11 | g.68409971C>T | CA381616378 | LRP5 | c.2149C>T (p.Leu717Phe) c.*755C>T (n.*755C>T) c.406C>T (p.Leu136Phe) c.2176C>T (p.Leu726Phe) n.2191C>T | |
| 11 | g.68409972T>A | CA381616379 | LRP5 | c.2150T>A (p.Leu717His) c.*756T>A (n.*756T>A) c.407T>A (p.Leu136His) c.2177T>A (p.Leu726His) n.2192T>A | |
| 11 | g.68409972T>C | CA381616380 | LRP5 | c.2150T>C (p.Leu717Pro) c.*756T>C (n.*756T>C) c.407T>C (p.Leu136Pro) c.2177T>C (p.Leu726Pro) n.2192T>C | |
| 11 | g.68409972T>G | CA381616381 | LRP5 | c.2150T>G (p.Leu717Arg) c.*756T>G (n.*756T>G) c.407T>G (p.Leu136Arg) c.2177T>G (p.Leu726Arg) n.2192T>G | |
| 11 | g.68409973dup | CA118086 | LRP5 | c.2151dup (p.Asp718Ter) c.*757dup (n.*757dup) c.408dup (p.Asp137Ter) c.2178dup (p.Asp727Ter) n.2193dup | ClinVar dbSNP |
| 11 | g.68409973T>A | CA475463055 | LRP5 | c.2151T>A (p.Leu717=) c.*757T>A (n.*757T>A) c.408T>A (p.Leu136=) c.2178T>A (p.Leu726=) n.2193T>A | |
| 11 | g.68409973T>C | CA475463054 | LRP5 | c.2151T>C (p.Leu717=) c.*757T>C (n.*757T>C) c.408T>C (p.Leu136=) c.2178T>C (p.Leu726=) n.2193T>C | |
| 11 | g.68409973T>G | CA475463053 | LRP5 | c.2151T>G (p.Leu717=) c.*757T>G (n.*757T>G) c.408T>G (p.Leu136=) c.2178T>G (p.Leu726=) n.2193T>G | |
| 11 | g.68409974G>A | CA381616384 | LRP5 | c.2152G>A (p.Asp718Asn) c.*758G>A (n.*758G>A) c.409G>A (p.Asp137Asn) c.2179G>A (p.Asp727Asn) n.2194G>A | |
| 11 | g.68409974G>C | CA381616382 | LRP5 | c.2152G>C (p.Asp718His) c.*758G>C (n.*758G>C) c.409G>C (p.Asp137His) c.2179G>C (p.Asp727His) n.2194G>C | |
| 11 | g.68409974G>T | CA381616383 | LRP5 | c.2152G>T (p.Asp718Tyr) c.*758G>T (n.*758G>T) c.409G>T (p.Asp137Tyr) c.2179G>T (p.Asp727Tyr) n.2194G>T | gnomAD v4 |
| 11 | g.68409975A>C | CA381616385 | LRP5 | c.2153A>C (p.Asp718Ala) c.*759A>C (n.*759A>C) c.410A>C (p.Asp137Ala) c.2180A>C (p.Asp727Ala) n.2195A>C | |
| 11 | g.68409975A>G | CA381616386 | LRP5 | c.2153A>G (p.Asp718Gly) c.*759A>G (n.*759A>G) c.410A>G (p.Asp137Gly) c.2180A>G (p.Asp727Gly) n.2195A>G | |
| 11 | g.68409975A>T | CA381616387 | LRP5 | c.2153A>T (p.Asp718Val) c.*759A>T (n.*759A>T) c.410A>T (p.Asp137Val) c.2180A>T (p.Asp727Val) n.2195A>T | |
| 11 | g.68409976C>A | CA381616388 | LRP5 | c.2154C>A (p.Asp718Glu) c.*760C>A (n.*760C>A) c.411C>A (p.Asp137Glu) c.2181C>A (p.Asp727Glu) n.2196C>A | |
| 11 | g.68409976C>G | CA381616389 | LRP5 | c.2154C>G (p.Asp718Glu) c.*760C>G (n.*760C>G) c.411C>G (p.Asp137Glu) c.2181C>G (p.Asp727Glu) n.2196C>G | |
| 11 | g.68409976C>T | CA475463056 | LRP5 | c.2154C>T (p.Asp718=) c.*760C>T (n.*760C>T) c.411C>T (p.Asp137=) c.2181C>T (p.Asp727=) n.2196C>T | |
| 11 | g.68409977T>A | CA381616390 | LRP5 | c.2155T>A (p.Tyr719Asn) c.*761T>A (n.*761T>A) c.412T>A (p.Tyr138Asn) c.2182T>A (p.Tyr728Asn) n.2197T>A | |
| 11 | g.68409977T>C | CA381616392 | LRP5 | c.2155T>C (p.Tyr719His) c.*761T>C (n.*761T>C) c.412T>C (p.Tyr138His) c.2182T>C (p.Tyr728His) n.2197T>C | |
| 11 | g.68409977T>G | CA381616391 | LRP5 | c.2155T>G (p.Tyr719Asp) c.*761T>G (n.*761T>G) c.412T>G (p.Tyr138Asp) c.2182T>G (p.Tyr728Asp) n.2197T>G | |
| 11 | g.68409978A= | CA1980594601 | LRP5 | c.2156A= (p.Tyr719=) c.*762A= (n.*762A=) c.413A= (p.Tyr138=) c.2183A= (p.Tyr728=) n.2198A= | |
| 11 | g.68409978A>C | CA381616393 | LRP5 | c.2156A>C (p.Tyr719Ser) c.*762A>C (n.*762A>C) c.413A>C (p.Tyr138Ser) c.2183A>C (p.Tyr728Ser) n.2198A>C | dbSNP |
| 11 | g.68409978A>G | CA6149551 | LRP5 | c.2156A>G (p.Tyr719Cys) c.*762A>G (n.*762A>G) c.413A>G (p.Tyr138Cys) c.2183A>G (p.Tyr728Cys) n.2198A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68409978A>T | CA381616394 | LRP5 | c.2156A>T (p.Tyr719Phe) c.*762A>T (n.*762A>T) c.413A>T (p.Tyr138Phe) c.2183A>T (p.Tyr728Phe) n.2198A>T | gnomAD v4 |
| 11 | g.68409979C>A | CA381616395 | LRP5 | c.2157C>A (p.Tyr719Ter) c.*763C>A (n.*763C>A) c.414C>A (p.Tyr138Ter) c.2184C>A (p.Tyr728Ter) n.2199C>A | gnomAD v4 |
| 11 | g.68409979C= | CA1980594604 | LRP5 | c.2157C= (p.Tyr719=) c.*763C= (n.*763C=) c.414C= (p.Tyr138=) c.2184C= (p.Tyr728=) n.2199C= | |
| 11 | g.68409979C>G | CA381616396 | LRP5 | c.2157C>G (p.Tyr719Ter) c.*763C>G (n.*763C>G) c.414C>G (p.Tyr138Ter) c.2184C>G (p.Tyr728Ter) n.2199C>G | dbSNP |
| 11 | g.68409979C>T | CA224270064 | LRP5 | c.2157C>T (p.Tyr719=) c.*763C>T (n.*763C>T) c.414C>T (p.Tyr138=) c.2184C>T (p.Tyr728=) n.2199C>T | dbSNP gnomAD v4 |
| 11 | g.68409980C>A | CA381616397 | LRP5 | c.2158C>A (p.Pro720Thr) c.*764C>A (n.*764C>A) c.415C>A (p.Pro139Thr) c.2185C>A (p.Pro729Thr) n.2200C>A | |
| 11 | g.68409980C>G | CA381616398 | LRP5 | c.2158C>G (p.Pro720Ala) c.*764C>G (n.*764C>G) c.415C>G (p.Pro139Ala) c.2185C>G (p.Pro729Ala) n.2200C>G | |
| 11 | g.68409980C>T | CA381616399 | LRP5 | c.2158C>T (p.Pro720Ser) c.*764C>T (n.*764C>T) c.415C>T (p.Pro139Ser) c.2185C>T (p.Pro729Ser) n.2200C>T | |
| 11 | g.68409981C>A | CA381616400 | LRP5 | c.2159C>A (p.Pro720His) c.*765C>A (n.*765C>A) c.416C>A (p.Pro139His) c.2186C>A (p.Pro729His) n.2201C>A | |
| 11 | g.68409981C>G | CA381616401 | LRP5 | c.2159C>G (p.Pro720Arg) c.*765C>G (n.*765C>G) c.416C>G (p.Pro139Arg) c.2186C>G (p.Pro729Arg) n.2201C>G | |
| 11 | g.68409981C>T | CA381616402 | LRP5 | c.2159C>T (p.Pro720Leu) c.*765C>T (n.*765C>T) c.416C>T (p.Pro139Leu) c.2186C>T (p.Pro729Leu) n.2201C>T | |
| 11 | g.68409982C>A | CA475463057 | LRP5 | c.2160C>A (p.Pro720=) c.*766C>A (n.*766C>A) c.417C>A (p.Pro139=) c.2187C>A (p.Pro729=) n.2202C>A | |
| 11 | g.68409982C= | CA1980594608 | LRP5 | c.2160C= (p.Pro720=) c.*766C= (n.*766C=) c.417C= (p.Pro139=) c.2187C= (p.Pro729=) n.2202C= | |
| 11 | g.68409982C>G | CA475463058 | LRP5 | c.2160C>G (p.Pro720=) c.*766C>G (n.*766C>G) c.417C>G (p.Pro139=) c.2187C>G (p.Pro729=) n.2202C>G | |
| 11 | g.68409982C>T | CA224270074 | LRP5 | c.2160C>T (p.Pro720=) c.*766C>T (n.*766C>T) c.417C>T (p.Pro139=) c.2187C>T (p.Pro729=) n.2202C>T | dbSNP gnomAD v4 |
| 11 | g.68409983G>A | CA381616404 | LRP5 | c.2161G>A (p.Glu721Lys) c.*767G>A (n.*767G>A) c.418G>A (p.Glu140Lys) c.2188G>A (p.Glu730Lys) n.2203G>A | COSMIC |
| 11 | g.68409983G>C | CA381616405 | LRP5 | c.2161G>C (p.Glu721Gln) c.*767G>C (n.*767G>C) c.418G>C (p.Glu140Gln) c.2188G>C (p.Glu730Gln) n.2203G>C | |
| 11 | g.68409983G>T | CA381616403 | LRP5 | c.2161G>T (p.Glu721Ter) c.*767G>T (n.*767G>T) c.418G>T (p.Glu140Ter) c.2188G>T (p.Glu730Ter) n.2203G>T | |
| 11 | g.68409984A>C | CA381616408 | LRP5 | c.2162A>C (p.Glu721Ala) c.*768A>C (n.*768A>C) c.419A>C (p.Glu140Ala) c.2189A>C (p.Glu730Ala) n.2204A>C | |
| 11 | g.68409984A>G | CA381616406 | LRP5 | c.2162A>G (p.Glu721Gly) c.*768A>G (n.*768A>G) c.419A>G (p.Glu140Gly) c.2189A>G (p.Glu730Gly) n.2204A>G | |
| 11 | g.68409984A>T | CA381616407 | LRP5 | c.2162A>T (p.Glu721Val) c.*768A>T (n.*768A>T) c.419A>T (p.Glu140Val) c.2189A>T (p.Glu730Val) n.2204A>T | |
| 11 | g.68409985G>A | CA475463059 | LRP5 | c.2163G>A (p.Glu721=) c.*769G>A (n.*769G>A) c.420G>A (p.Glu140=) c.2190G>A (p.Glu730=) n.2205G>A | |
| 11 | g.68409985G>C | CA381616409 | LRP5 | c.2163G>C (p.Glu721Asp) c.*769G>C (n.*769G>C) c.420G>C (p.Glu140Asp) c.2190G>C (p.Glu730Asp) n.2205G>C | |
| 11 | g.68409985G>T | CA381616410 | LRP5 | c.2163G>T (p.Glu721Asp) c.*769G>T (n.*769G>T) c.420G>T (p.Glu140Asp) c.2190G>T (p.Glu730Asp) n.2205G>T | |
| 11 | g.68409986G>A | CA381616411 | LRP5 | c.2164G>A (p.Gly722Ser) c.*770G>A (n.*770G>A) c.421G>A (p.Gly141Ser) c.2191G>A (p.Gly731Ser) n.2206G>A | |
| 11 | g.68409986G>C | CA381616412 | LRP5 | c.2164G>C (p.Gly722Arg) c.*770G>C (n.*770G>C) c.421G>C (p.Gly141Arg) c.2191G>C (p.Gly731Arg) n.2206G>C | dbSNP |
| 11 | g.68409986G>T | CA381616413 | LRP5 | c.2164G>T (p.Gly722Cys) c.*770G>T (n.*770G>T) c.421G>T (p.Gly141Cys) c.2191G>T (p.Gly731Cys) n.2206G>T | |
| 11 | g.68409987G>A | CA381616414 | LRP5 | c.2165G>A (p.Gly722Asp) c.*771G>A (n.*771G>A) c.422G>A (p.Gly141Asp) c.2192G>A (p.Gly731Asp) n.2207G>A | |
| 11 | g.68409987G>C | CA381616415 | LRP5 | c.2165G>C (p.Gly722Ala) c.*771G>C (n.*771G>C) c.422G>C (p.Gly141Ala) c.2192G>C (p.Gly731Ala) n.2207G>C | |
| 11 | g.68409987G= | CA1980594609 | LRP5 | c.2165G= (p.Gly722=) c.*771G= (n.*771G=) c.422G= (p.Gly141=) c.2192G= (p.Gly731=) n.2207G= | |
| 11 | g.68409987G>T | CA224270076 | LRP5 | c.2165G>T (p.Gly722Val) c.*771G>T (n.*771G>T) c.422G>T (p.Gly141Val) c.2192G>T (p.Gly731Val) n.2207G>T | dbSNP |