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.68413486_68413677del | CA2792541099 | LRP5 | c.2504-203_2504-12del (n.2504-203_2504-12del) c.*1110-203_*1110-12del (n.*1110-203_*1110-12del) c.761-203_761-12del (n.761-203_761-12del) c.2531-203_2531-12del (n.2531-203_2531-12del) n.2546-203_2546-12del c.43+183_44-12del (n.43+183_44-12del) n.2769+183_2770-12del | |
| 11 | g.68413648C>A | CA2614714563 | LRP5 | c.2504-41C>A (n.2504-41C>A) c.*1110-41C>A (n.*1110-41C>A) c.761-41C>A (n.761-41C>A) c.2531-41C>A (n.2531-41C>A) n.2546-41C>A c.44-41C>A (n.44-41C>A) n.2770-41C>A | gnomAD v4 |
| 11 | g.68413649T>C | CA599953358 | LRP5 | c.2504-40T>C (n.2504-40T>C) c.*1110-40T>C (n.*1110-40T>C) c.761-40T>C (n.761-40T>C) c.2531-40T>C (n.2531-40T>C) n.2546-40T>C c.44-40T>C (n.44-40T>C) n.2770-40T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413649T= | CA1980597825 | LRP5 | c.2504-40T= (n.2504-40T=) c.*1110-40T= (n.*1110-40T=) c.761-40T= (n.761-40T=) c.2531-40T= (n.2531-40T=) n.2546-40T= c.44-40T= (n.44-40T=) n.2770-40T= | |
| 11 | g.68413650G>A | CA2614714564 | LRP5 | c.2504-39G>A (n.2504-39G>A) c.*1110-39G>A (n.*1110-39G>A) c.761-39G>A (n.761-39G>A) c.2531-39G>A (n.2531-39G>A) n.2546-39G>A c.44-39G>A (n.44-39G>A) n.2770-39G>A | gnomAD v4 |
| 11 | g.68413652G>A | CA599953360 | LRP5 | c.2504-37G>A (n.2504-37G>A) c.*1110-37G>A (n.*1110-37G>A) c.761-37G>A (n.761-37G>A) c.2531-37G>A (n.2531-37G>A) n.2546-37G>A c.44-37G>A (n.44-37G>A) n.2770-37G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68413652G= | CA1980597826 | LRP5 | c.2504-37G= (n.2504-37G=) c.*1110-37G= (n.*1110-37G=) c.761-37G= (n.761-37G=) c.2531-37G= (n.2531-37G=) n.2546-37G= c.44-37G= (n.44-37G=) n.2770-37G= | |
| 11 | g.68413653C>A | CA2614714565 | LRP5 | c.2504-36C>A (n.2504-36C>A) c.*1110-36C>A (n.*1110-36C>A) c.761-36C>A (n.761-36C>A) c.2531-36C>A (n.2531-36C>A) n.2546-36C>A c.44-36C>A (n.44-36C>A) n.2770-36C>A | gnomAD v4 |
| 11 | g.68413653C= | CA1980597828 | LRP5 | c.2504-36C= (n.2504-36C=) c.*1110-36C= (n.*1110-36C=) c.761-36C= (n.761-36C=) c.2531-36C= (n.2531-36C=) n.2546-36C= c.44-36C= (n.44-36C=) n.2770-36C= | |
| 11 | g.68413653C>G | CA6149663 | LRP5 | c.2504-36C>G (n.2504-36C>G) c.*1110-36C>G (n.*1110-36C>G) c.761-36C>G (n.761-36C>G) c.2531-36C>G (n.2531-36C>G) n.2546-36C>G c.44-36C>G (n.44-36C>G) n.2770-36C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68413653C>T | CA599953363 | LRP5 | c.2504-36C>T (n.2504-36C>T) c.*1110-36C>T (n.*1110-36C>T) c.761-36C>T (n.761-36C>T) c.2531-36C>T (n.2531-36C>T) n.2546-36C>T c.44-36C>T (n.44-36C>T) n.2770-36C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68413654C>A | CA2614714566 | LRP5 | c.2504-35C>A (n.2504-35C>A) c.*1110-35C>A (n.*1110-35C>A) c.761-35C>A (n.761-35C>A) c.2531-35C>A (n.2531-35C>A) n.2546-35C>A c.44-35C>A (n.44-35C>A) n.2770-35C>A | gnomAD v4 |
| 11 | g.68413654C>T | CA2614714567 | LRP5 | c.2504-35C>T (n.2504-35C>T) c.*1110-35C>T (n.*1110-35C>T) c.761-35C>T (n.761-35C>T) c.2531-35C>T (n.2531-35C>T) n.2546-35C>T c.44-35C>T (n.44-35C>T) n.2770-35C>T | gnomAD v4 |
| 11 | g.68413654_68413655delinsCT | CA1980597830 | LRP5 | c.2504-35_2504-34delinsCT (n.2504-35_2504-34delinsCT) c.*1110-35_*1110-34delinsCT (n.*1110-35_*1110-34delinsCT) c.761-35_761-34delinsCT (n.761-35_761-34delinsCT) c.2531-35_2531-34delinsCT (n.2531-35_2531-34delinsCT) n.2546-35_2546-34delinsCT c.44-35_44-34delinsCT (n.44-35_44-34delinsCT) n.2770-35_2770-34delinsCT | |
| 11 | g.68413655T>G | CA2724558445 | LRP5 | c.2504-34T>G (n.2504-34T>G) c.*1110-34T>G (n.*1110-34T>G) c.761-34T>G (n.761-34T>G) c.2531-34T>G (n.2531-34T>G) n.2546-34T>G c.44-34T>G (n.44-34T>G) n.2770-34T>G | dbSNP |
| 11 | g.68413657del | CA599953364 | LRP5 | c.2504-32del (n.2504-32del) c.*1110-32del (n.*1110-32del) c.761-32del (n.761-32del) c.2531-32del (n.2531-32del) n.2546-32del c.44-32del (n.44-32del) n.2770-32del | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68413658G>A | CA2614714569 | LRP5 | c.2504-31G>A (n.2504-31G>A) c.*1110-31G>A (n.*1110-31G>A) c.761-31G>A (n.761-31G>A) c.2531-31G>A (n.2531-31G>A) n.2546-31G>A c.44-31G>A (n.44-31G>A) n.2770-31G>A | gnomAD v4 |
| 11 | g.68413658G>T | CA2614714568 | LRP5 | c.2504-31G>T (n.2504-31G>T) c.*1110-31G>T (n.*1110-31G>T) c.761-31G>T (n.761-31G>T) c.2531-31G>T (n.2531-31G>T) n.2546-31G>T c.44-31G>T (n.44-31G>T) n.2770-31G>T | gnomAD v4 |
| 11 | g.68413659C>A | CA2614714571 | LRP5 | c.2504-30C>A (n.2504-30C>A) c.*1110-30C>A (n.*1110-30C>A) c.761-30C>A (n.761-30C>A) c.2531-30C>A (n.2531-30C>A) n.2546-30C>A c.44-30C>A (n.44-30C>A) n.2770-30C>A | gnomAD v4 |
| 11 | g.68413659C>T | CA2614714570 | LRP5 | c.2504-30C>T (n.2504-30C>T) c.*1110-30C>T (n.*1110-30C>T) c.761-30C>T (n.761-30C>T) c.2531-30C>T (n.2531-30C>T) n.2546-30C>T c.44-30C>T (n.44-30C>T) n.2770-30C>T | gnomAD v4 |
| 11 | g.68413661G>A | CA6149664 | LRP5 | c.2504-28G>A (n.2504-28G>A) c.*1110-28G>A (n.*1110-28G>A) c.761-28G>A (n.761-28G>A) c.2531-28G>A (n.2531-28G>A) n.2546-28G>A c.44-28G>A (n.44-28G>A) n.2770-28G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413661G= | CA1980597832 | LRP5 | c.2504-28G= (n.2504-28G=) c.*1110-28G= (n.*1110-28G=) c.761-28G= (n.761-28G=) c.2531-28G= (n.2531-28G=) n.2546-28G= c.44-28G= (n.44-28G=) n.2770-28G= | |
| 11 | g.68413663C>A | CA2614714572 | LRP5 | c.2504-26C>A (n.2504-26C>A) c.*1110-26C>A (n.*1110-26C>A) c.761-26C>A (n.761-26C>A) c.2531-26C>A (n.2531-26C>A) n.2546-26C>A c.44-26C>A (n.44-26C>A) n.2770-26C>A | gnomAD v4 |
| 11 | g.68413663C= | CA1980597833 | LRP5 | c.2504-26C= (n.2504-26C=) c.*1110-26C= (n.*1110-26C=) c.761-26C= (n.761-26C=) c.2531-26C= (n.2531-26C=) n.2546-26C= c.44-26C= (n.44-26C=) n.2770-26C= | |
| 11 | g.68413663C>T | CA599953365 | LRP5 | c.2504-26C>T (n.2504-26C>T) c.*1110-26C>T (n.*1110-26C>T) c.761-26C>T (n.761-26C>T) c.2531-26C>T (n.2531-26C>T) n.2546-26C>T c.44-26C>T (n.44-26C>T) n.2770-26C>T | dbSNP gnomAD v2 |
| 11 | g.68413664A= | CA1980597835 | LRP5 | c.2504-25A= (n.2504-25A=) c.*1110-25A= (n.*1110-25A=) c.761-25A= (n.761-25A=) c.2531-25A= (n.2531-25A=) n.2546-25A= c.44-25A= (n.44-25A=) n.2770-25A= | |
| 11 | g.68413664A>C | CA1980597836 | LRP5 | c.2504-25A>C (n.2504-25A>C) c.*1110-25A>C (n.*1110-25A>C) c.761-25A>C (n.761-25A>C) c.2531-25A>C (n.2531-25A>C) n.2546-25A>C c.44-25A>C (n.44-25A>C) n.2770-25A>C | dbSNP |
| 11 | g.68413665C>A | CA2614714573 | LRP5 | c.2504-24C>A (n.2504-24C>A) c.*1110-24C>A (n.*1110-24C>A) c.761-24C>A (n.761-24C>A) c.2531-24C>A (n.2531-24C>A) n.2546-24C>A c.44-24C>A (n.44-24C>A) n.2770-24C>A | gnomAD v4 |
| 11 | g.68413666C= | CA1980597837 | LRP5 | c.2504-23C= (n.2504-23C=) c.*1110-23C= (n.*1110-23C=) c.761-23C= (n.761-23C=) c.2531-23C= (n.2531-23C=) n.2546-23C= c.44-23C= (n.44-23C=) n.2770-23C= | |
| 11 | g.68413666C>T | CA6149665 | LRP5 | c.2504-23C>T (n.2504-23C>T) c.*1110-23C>T (n.*1110-23C>T) c.761-23C>T (n.761-23C>T) c.2531-23C>T (n.2531-23C>T) n.2546-23C>T c.44-23C>T (n.44-23C>T) n.2770-23C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413667G>A | CA6149666 | LRP5 | c.2504-22G>A (n.2504-22G>A) c.*1110-22G>A (n.*1110-22G>A) c.761-22G>A (n.761-22G>A) c.2531-22G>A (n.2531-22G>A) n.2546-22G>A c.44-22G>A (n.44-22G>A) n.2770-22G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413667G= | CA1980597839 | LRP5 | c.2504-22G= (n.2504-22G=) c.*1110-22G= (n.*1110-22G=) c.761-22G= (n.761-22G=) c.2531-22G= (n.2531-22G=) n.2546-22G= c.44-22G= (n.44-22G=) n.2770-22G= | |
| 11 | g.68413670C>A | CA2614714575 | LRP5 | c.2504-19C>A (n.2504-19C>A) c.*1110-19C>A (n.*1110-19C>A) c.761-19C>A (n.761-19C>A) c.2531-19C>A (n.2531-19C>A) n.2546-19C>A c.44-19C>A (n.44-19C>A) n.2770-19C>A | gnomAD v4 |
| 11 | g.68413670C>T | CA2580084694 | LRP5 | c.2504-19C>T (n.2504-19C>T) c.*1110-19C>T (n.*1110-19C>T) c.761-19C>T (n.761-19C>T) c.2531-19C>T (n.2531-19C>T) n.2546-19C>T c.44-19C>T (n.44-19C>T) n.2770-19C>T | ClinVar |
| 11 | g.68413672del | CA2614714574 | LRP5 | c.2504-17del (n.2504-17del) c.*1110-17del (n.*1110-17del) c.761-17del (n.761-17del) c.2531-17del (n.2531-17del) n.2546-17del c.44-17del (n.44-17del) n.2770-17del | gnomAD v4 |
| 11 | g.68413671C>T | CA2614714576 | LRP5 | c.2504-18C>T (n.2504-18C>T) c.*1110-18C>T (n.*1110-18C>T) c.761-18C>T (n.761-18C>T) c.2531-18C>T (n.2531-18C>T) n.2546-18C>T c.44-18C>T (n.44-18C>T) n.2770-18C>T | gnomAD v4 |
| 11 | g.68413672C= | CA1980597844 | LRP5 | c.2504-17C= (n.2504-17C=) c.*1110-17C= (n.*1110-17C=) c.761-17C= (n.761-17C=) c.2531-17C= (n.2531-17C=) n.2546-17C= c.44-17C= (n.44-17C=) n.2770-17C= | |
| 11 | g.68413672C>G | CA6149668 | LRP5 | c.2504-17C>G (n.2504-17C>G) c.*1110-17C>G (n.*1110-17C>G) c.761-17C>G (n.761-17C>G) c.2531-17C>G (n.2531-17C>G) n.2546-17C>G c.44-17C>G (n.44-17C>G) n.2770-17C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413672C>T | CA6149667 | LRP5 | c.2504-17C>T (n.2504-17C>T) c.*1110-17C>T (n.*1110-17C>T) c.761-17C>T (n.761-17C>T) c.2531-17C>T (n.2531-17C>T) n.2546-17C>T c.44-17C>T (n.44-17C>T) n.2770-17C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413672_68413673delinsCG | CA1980597843 | LRP5 | c.2504-17_2504-16delinsCG (n.2504-17_2504-16delinsCG) c.*1110-17_*1110-16delinsCG (n.*1110-17_*1110-16delinsCG) c.761-17_761-16delinsCG (n.761-17_761-16delinsCG) c.2531-17_2531-16delinsCG (n.2531-17_2531-16delinsCG) n.2546-17_2546-16delinsCG c.44-17_44-16delinsCG (n.44-17_44-16delinsCG) n.2770-17_2770-16delinsCG | |
| 11 | g.68413672_68413674delinsCGT | CA1980597845 | LRP5 | c.2504-17_2504-15delinsCGT (n.2504-17_2504-15delinsCGT) c.*1110-17_*1110-15delinsCGT (n.*1110-17_*1110-15delinsCGT) c.761-17_761-15delinsCGT (n.761-17_761-15delinsCGT) c.2531-17_2531-15delinsCGT (n.2531-17_2531-15delinsCGT) n.2546-17_2546-15delinsCGT c.44-17_44-15delinsCGT (n.44-17_44-15delinsCGT) n.2770-17_2770-15delinsCGT | |
| 11 | g.68413673del | CA918905383 | LRP5 | c.2504-16del (n.2504-16del) c.*1110-16del (n.*1110-16del) c.761-16del (n.761-16del) c.2531-16del (n.2531-16del) n.2546-16del c.44-16del (n.44-16del) n.2770-16del | dbSNP |
| 11 | g.68413673G>A | CA6149670 | LRP5 | c.2504-16G>A (n.2504-16G>A) c.*1110-16G>A (n.*1110-16G>A) c.761-16G>A (n.761-16G>A) c.2531-16G>A (n.2531-16G>A) n.2546-16G>A c.44-16G>A (n.44-16G>A) n.2770-16G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413673G= | CA1980597847 | LRP5 | c.2504-16G= (n.2504-16G=) c.*1110-16G= (n.*1110-16G=) c.761-16G= (n.761-16G=) c.2531-16G= (n.2531-16G=) n.2546-16G= c.44-16G= (n.44-16G=) n.2770-16G= | |
| 11 | g.68413679_68413680del | CA6149669 | LRP5 | c.2504-10_2504-9del (n.2504-10_2504-9del) c.*1110-10_*1110-9del (n.*1110-10_*1110-9del) c.761-10_761-9del (n.761-10_761-9del) c.2531-10_2531-9del (n.2531-10_2531-9del) n.2546-10_2546-9del c.44-10_44-9del (n.44-10_44-9del) n.2770-10_2770-9del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413674del | CA2614714577 | LRP5 | c.2504-15del (n.2504-15del) c.*1110-15del (n.*1110-15del) c.761-15del (n.761-15del) c.2531-15del (n.2531-15del) n.2546-15del c.44-15del (n.44-15del) n.2770-15del | gnomAD v4 |
| 11 | g.68413678T>C | CA2614714578 | LRP5 | c.2504-11T>C (n.2504-11T>C) c.*1110-11T>C (n.*1110-11T>C) c.761-11T>C (n.761-11T>C) c.2531-11T>C (n.2531-11T>C) n.2546-11T>C c.44-11T>C (n.44-11T>C) n.2770-11T>C | gnomAD v4 |
| 11 | g.68413678T>G | CA6149671 | LRP5 | c.2504-11T>G (n.2504-11T>G) c.*1110-11T>G (n.*1110-11T>G) c.761-11T>G (n.761-11T>G) c.2531-11T>G (n.2531-11T>G) n.2546-11T>G c.44-11T>G (n.44-11T>G) n.2770-11T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413678T= | CA1980597849 | LRP5 | c.2504-11T= (n.2504-11T=) c.*1110-11T= (n.*1110-11T=) c.761-11T= (n.761-11T=) c.2531-11T= (n.2531-11T=) n.2546-11T= c.44-11T= (n.44-11T=) n.2770-11T= | |
| 11 | g.68413679G>A | CA1980597852 | LRP5 | c.2504-10G>A (n.2504-10G>A) c.*1110-10G>A (n.*1110-10G>A) c.761-10G>A (n.761-10G>A) c.2531-10G>A (n.2531-10G>A) n.2546-10G>A c.44-10G>A (n.44-10G>A) n.2770-10G>A | dbSNP gnomAD v4 |
| 11 | g.68413679G>C | CA1980597853 | LRP5 | c.2504-10G>C (n.2504-10G>C) c.*1110-10G>C (n.*1110-10G>C) c.761-10G>C (n.761-10G>C) c.2531-10G>C (n.2531-10G>C) n.2546-10G>C c.44-10G>C (n.44-10G>C) n.2770-10G>C | dbSNP gnomAD v4 |
| 11 | g.68413679G= | CA1980597851 | LRP5 | c.2504-10G= (n.2504-10G=) c.*1110-10G= (n.*1110-10G=) c.761-10G= (n.761-10G=) c.2531-10G= (n.2531-10G=) n.2546-10G= c.44-10G= (n.44-10G=) n.2770-10G= | |
| 11 | g.68413679G>T | CA600238929 | LRP5 | c.2504-10G>T (n.2504-10G>T) c.*1110-10G>T (n.*1110-10G>T) c.761-10G>T (n.761-10G>T) c.2531-10G>T (n.2531-10G>T) n.2546-10G>T c.44-10G>T (n.44-10G>T) n.2770-10G>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68413681T>G | CA2614714579 | LRP5 | c.2504-8T>G (n.2504-8T>G) c.*1110-8T>G (n.*1110-8T>G) c.761-8T>G (n.761-8T>G) c.2531-8T>G (n.2531-8T>G) n.2546-8T>G c.44-8T>G (n.44-8T>G) n.2770-8T>G | gnomAD v4 |
| 11 | g.68413682C>G | CA2614714580 | LRP5 | c.2504-7C>G (n.2504-7C>G) c.*1110-7C>G (n.*1110-7C>G) c.761-7C>G (n.761-7C>G) c.2531-7C>G (n.2531-7C>G) n.2546-7C>G c.44-7C>G (n.44-7C>G) n.2770-7C>G | gnomAD v4 |
| 11 | g.68413683A>G | CA2740093089 | LRP5 | c.2504-6A>G (n.2504-6A>G) c.*1110-6A>G (n.*1110-6A>G) c.761-6A>G (n.761-6A>G) c.2531-6A>G (n.2531-6A>G) n.2546-6A>G c.44-6A>G (n.44-6A>G) n.2770-6A>G | ClinVar |
| 11 | g.68413683A>T | CA2614714581 | LRP5 | c.2504-6A>T (n.2504-6A>T) c.*1110-6A>T (n.*1110-6A>T) c.761-6A>T (n.761-6A>T) c.2531-6A>T (n.2531-6A>T) n.2546-6A>T c.44-6A>T (n.44-6A>T) n.2770-6A>T | gnomAD v4 |
| 11 | g.68413684T>C | CA2614714582 | LRP5 | c.2504-5T>C (n.2504-5T>C) c.*1110-5T>C (n.*1110-5T>C) c.761-5T>C (n.761-5T>C) c.2531-5T>C (n.2531-5T>C) n.2546-5T>C c.44-5T>C (n.44-5T>C) n.2770-5T>C | gnomAD v4 |
| 11 | g.68413687A>C | CA381618022 | LRP5 | c.2504-2A>C (n.2504-2A>C) c.*1110-2A>C (n.*1110-2A>C) c.761-2A>C (n.761-2A>C) c.2531-2A>C (n.2531-2A>C) n.2546-2A>C c.44-2A>C (n.44-2A>C) n.2770-2A>C | |
| 11 | g.68413687A>G | CA381618027 | LRP5 | c.2504-2A>G (n.2504-2A>G) c.*1110-2A>G (n.*1110-2A>G) c.761-2A>G (n.761-2A>G) c.2531-2A>G (n.2531-2A>G) n.2546-2A>G c.44-2A>G (n.44-2A>G) n.2770-2A>G | |
| 11 | g.68413687A>T | CA381618024 | LRP5 | c.2504-2A>T (n.2504-2A>T) c.*1110-2A>T (n.*1110-2A>T) c.761-2A>T (n.761-2A>T) c.2531-2A>T (n.2531-2A>T) n.2546-2A>T c.44-2A>T (n.44-2A>T) n.2770-2A>T | |
| 11 | g.68413688G>A | CA381618030 | LRP5 | c.2504-1G>A (n.2504-1G>A) c.*1110-1G>A (n.*1110-1G>A) c.761-1G>A (n.761-1G>A) c.2531-1G>A (n.2531-1G>A) n.2546-1G>A c.44-1G>A (n.44-1G>A) n.2770-1G>A | |
| 11 | g.68413688G>C | CA381618033 | LRP5 | c.2504-1G>C (n.2504-1G>C) c.*1110-1G>C (n.*1110-1G>C) c.761-1G>C (n.761-1G>C) c.2531-1G>C (n.2531-1G>C) n.2546-1G>C c.44-1G>C (n.44-1G>C) n.2770-1G>C | |
| 11 | g.68413688G>T | CA381618036 | LRP5 | c.2504-1G>T (n.2504-1G>T) c.*1110-1G>T (n.*1110-1G>T) c.761-1G>T (n.761-1G>T) c.2531-1G>T (n.2531-1G>T) n.2546-1G>T c.44-1G>T (n.44-1G>T) n.2770-1G>T | |
| 11 | g.68413689G>A | CA381618046 | LRP5 | c.2504G>A (p.Gly835Asp) c.*1110G>A (n.*1110G>A) c.761G>A (p.Gly254Asp) c.2531G>A (p.Gly844Asp) n.2546G>A c.44G>A (p.Gly15Asp) n.2770G>A | ClinVar dbSNP |
| 11 | g.68413689G>C | CA381618048 | LRP5 | c.2504G>C (p.Gly835Ala) c.*1110G>C (n.*1110G>C) c.761G>C (p.Gly254Ala) c.2531G>C (p.Gly844Ala) n.2546G>C c.44G>C (p.Gly15Ala) n.2770G>C | |
| 11 | g.68413689G= | CA1980597855 | LRP5 | c.2504G= (p.Gly835=) c.*1110G= (n.*1110G=) c.761G= (p.Gly254=) c.2531G= (p.Gly844=) n.2546G= c.44G= (p.Gly15=) n.2770G= | |
| 11 | g.68413689G>T | CA381618051 | LRP5 | c.2504G>T (p.Gly835Val) c.*1110G>T (n.*1110G>T) c.761G>T (p.Gly254Val) c.2531G>T (p.Gly844Val) n.2546G>T c.44G>T (p.Gly15Val) n.2770G>T | COSMIC |
| 11 | g.68413690T>A | CA475516449 | LRP5 | c.2505T>A (p.Gly835=) c.*1111T>A (n.*1111T>A) c.762T>A (p.Gly254=) c.2532T>A (p.Gly844=) n.2547T>A c.45T>A (p.Gly15=) n.2771T>A | |
| 11 | g.68413690T>C | CA475516450 | LRP5 | c.2505T>C (p.Gly835=) c.*1111T>C (n.*1111T>C) c.762T>C (p.Gly254=) c.2532T>C (p.Gly844=) n.2547T>C c.45T>C (p.Gly15=) n.2771T>C | |
| 11 | g.68413690T>G | CA475516451 | LRP5 | c.2505T>G (p.Gly835=) c.*1111T>G (n.*1111T>G) c.762T>G (p.Gly254=) c.2532T>G (p.Gly844=) n.2547T>G c.45T>G (p.Gly15=) n.2771T>G | |
| 11 | g.68413691C>A | CA381618060 | LRP5 | c.2506C>A (p.Gln836Lys) c.*1112C>A (n.*1112C>A) c.763C>A (p.Gln255Lys) c.2533C>A (p.Gln845Lys) n.2548C>A c.46C>A (p.Gln16Lys) n.2772C>A | gnomAD v4 |
| 11 | g.68413691C>G | CA381618055 | LRP5 | c.2506C>G (p.Gln836Glu) c.*1112C>G (n.*1112C>G) c.763C>G (p.Gln255Glu) c.2533C>G (p.Gln845Glu) n.2548C>G c.46C>G (p.Gln16Glu) n.2772C>G | |
| 11 | g.68413691C>T | CA381618058 | LRP5 | c.2506C>T (p.Gln836Ter) c.*1112C>T (n.*1112C>T) c.763C>T (p.Gln255Ter) c.2533C>T (p.Gln845Ter) n.2548C>T c.46C>T (p.Gln16Ter) n.2772C>T | COSMIC |
| 11 | g.68413692A>C | CA381618065 | LRP5 | c.2507A>C (p.Gln836Pro) c.*1113A>C (n.*1113A>C) c.764A>C (p.Gln255Pro) c.2534A>C (p.Gln845Pro) n.2549A>C c.47A>C (p.Gln16Pro) n.2773A>C | |
| 11 | g.68413692A>G | CA381618067 | LRP5 | c.2507A>G (p.Gln836Arg) c.*1113A>G (n.*1113A>G) c.764A>G (p.Gln255Arg) c.2534A>G (p.Gln845Arg) n.2549A>G c.47A>G (p.Gln16Arg) n.2773A>G | gnomAD v4 |
| 11 | g.68413692A>T | CA381618068 | LRP5 | c.2507A>T (p.Gln836Leu) c.*1113A>T (n.*1113A>T) c.764A>T (p.Gln255Leu) c.2534A>T (p.Gln845Leu) n.2549A>T c.47A>T (p.Gln16Leu) n.2773A>T | |
| 11 | g.68413693G>A | CA475516457 | LRP5 | c.2508G>A (p.Gln836=) c.*1114G>A (n.*1114G>A) c.765G>A (p.Gln255=) c.2535G>A (p.Gln845=) n.2550G>A c.48G>A (p.Gln16=) n.2774G>A | dbSNP gnomAD v4 |
| 11 | g.68413693G>C | CA381618071 | LRP5 | c.2508G>C (p.Gln836His) c.*1114G>C (n.*1114G>C) c.765G>C (p.Gln255His) c.2535G>C (p.Gln845His) n.2550G>C c.48G>C (p.Gln16His) n.2774G>C | |
| 11 | g.68413693G= | CA1980597857 | LRP5 | c.2508G= (p.Gln836=) c.*1114G= (n.*1114G=) c.765G= (p.Gln255=) c.2535G= (p.Gln845=) n.2550G= c.48G= (p.Gln16=) n.2774G= | |
| 11 | g.68413693G>T | CA381618074 | LRP5 | c.2508G>T (p.Gln836His) c.*1114G>T (n.*1114G>T) c.765G>T (p.Gln255His) c.2535G>T (p.Gln845His) n.2550G>T c.48G>T (p.Gln16His) n.2774G>T | |
| 11 | g.68413694G>A | CA381618080 | LRP5 | c.2509G>A (p.Glu837Lys) c.*1115G>A (n.*1115G>A) c.766G>A (p.Glu256Lys) c.2536G>A (p.Glu846Lys) n.2551G>A c.49G>A (p.Glu17Lys) n.2775G>A | gnomAD v4 |
| 11 | g.68413694G>C | CA381618077 | LRP5 | c.2509G>C (p.Glu837Gln) c.*1115G>C (n.*1115G>C) c.766G>C (p.Glu256Gln) c.2536G>C (p.Glu846Gln) n.2551G>C c.49G>C (p.Glu17Gln) n.2775G>C | |
| 11 | g.68413694G>T | CA381618079 | LRP5 | c.2509G>T (p.Glu837Ter) c.*1115G>T (n.*1115G>T) c.766G>T (p.Glu256Ter) c.2536G>T (p.Glu846Ter) n.2551G>T c.49G>T (p.Glu17Ter) n.2775G>T | |
| 11 | g.68413695A>C | CA381618082 | LRP5 | c.2510A>C (p.Glu837Ala) c.*1116A>C (n.*1116A>C) c.767A>C (p.Glu256Ala) c.2537A>C (p.Glu846Ala) n.2552A>C c.50A>C (p.Glu17Ala) n.2776A>C | |
| 11 | g.68413695A>G | CA381618084 | LRP5 | c.2510A>G (p.Glu837Gly) c.*1116A>G (n.*1116A>G) c.767A>G (p.Glu256Gly) c.2537A>G (p.Glu846Gly) n.2552A>G c.50A>G (p.Glu17Gly) n.2776A>G | |
| 11 | g.68413695A>T | CA381618085 | LRP5 | c.2510A>T (p.Glu837Val) c.*1116A>T (n.*1116A>T) c.767A>T (p.Glu256Val) c.2537A>T (p.Glu846Val) n.2552A>T c.50A>T (p.Glu17Val) n.2776A>T | |
| 11 | g.68413696G>A | CA475516466 | LRP5 | c.2511G>A (p.Glu837=) c.*1117G>A (n.*1117G>A) c.768G>A (p.Glu256=) c.2538G>A (p.Glu846=) n.2553G>A c.51G>A (p.Glu17=) n.2777G>A | |
| 11 | g.68413696G>C | CA381618087 | LRP5 | c.2511G>C (p.Glu837Asp) c.*1117G>C (n.*1117G>C) c.768G>C (p.Glu256Asp) c.2538G>C (p.Glu846Asp) n.2553G>C c.51G>C (p.Glu17Asp) n.2777G>C | |
| 11 | g.68413696G>T | CA381618089 | LRP5 | c.2511G>T (p.Glu837Asp) c.*1117G>T (n.*1117G>T) c.768G>T (p.Glu256Asp) c.2538G>T (p.Glu846Asp) n.2553G>T c.51G>T (p.Glu17Asp) n.2777G>T | |
| 11 | g.68413697C>A | CA475516470 | LRP5 | c.2512C>A (p.Arg838=) c.*1118C>A (n.*1118C>A) c.769C>A (p.Arg257=) c.2539C>A (p.Arg847=) n.2554C>A c.52C>A (p.Arg18=) n.2778C>A | gnomAD v4 |
| 11 | g.68413697C= | CA1980597859 | LRP5 | c.2512C= (p.Arg838=) c.*1118C= (n.*1118C=) c.769C= (p.Arg257=) c.2539C= (p.Arg847=) n.2554C= c.52C= (p.Arg18=) n.2778C= | |
| 11 | g.68413697C>G | CA381618090 | LRP5 | c.2512C>G (p.Arg838Gly) c.*1118C>G (n.*1118C>G) c.769C>G (p.Arg257Gly) c.2539C>G (p.Arg847Gly) n.2554C>G c.52C>G (p.Arg18Gly) n.2778C>G | |
| 11 | g.68413697C>T | CA6149672 | LRP5 | c.2512C>T (p.Arg838Trp) c.*1118C>T (n.*1118C>T) c.769C>T (p.Arg257Trp) c.2539C>T (p.Arg847Trp) n.2554C>T c.52C>T (p.Arg18Trp) n.2778C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413698G>A | CA6149673 | LRP5 | c.2513G>A (p.Arg838Gln) c.*1119G>A (n.*1119G>A) c.770G>A (p.Arg257Gln) c.2540G>A (p.Arg847Gln) n.2555G>A c.53G>A (p.Arg18Gln) n.2779G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413698G>C | CA381618094 | LRP5 | c.2513G>C (p.Arg838Pro) c.*1119G>C (n.*1119G>C) c.770G>C (p.Arg257Pro) c.2540G>C (p.Arg847Pro) n.2555G>C c.53G>C (p.Arg18Pro) n.2779G>C | |
| 11 | g.68413698G= | CA1980597861 | LRP5 | c.2513G= (p.Arg838=) c.*1119G= (n.*1119G=) c.770G= (p.Arg257=) c.2540G= (p.Arg847=) n.2555G= c.53G= (p.Arg18=) n.2779G= | |
| 11 | g.68413698G>T | CA381618096 | LRP5 | c.2513G>T (p.Arg838Leu) c.*1119G>T (n.*1119G>T) c.770G>T (p.Arg257Leu) c.2540G>T (p.Arg847Leu) n.2555G>T c.53G>T (p.Arg18Leu) n.2779G>T | |
| 11 | g.68413699G>A | CA475516474 | LRP5 | c.2514G>A (p.Arg838=) c.*1120G>A (n.*1120G>A) c.771G>A (p.Arg257=) c.2541G>A (p.Arg847=) n.2556G>A c.54G>A (p.Arg18=) n.2780G>A | dbSNP |
| 11 | g.68413699G>C | CA475516472 | LRP5 | c.2514G>C (p.Arg838=) c.*1120G>C (n.*1120G>C) c.771G>C (p.Arg257=) c.2541G>C (p.Arg847=) n.2556G>C c.54G>C (p.Arg18=) n.2780G>C | |
| 11 | g.68413699G= | CA1980597866 | LRP5 | c.2514G= (p.Arg838=) c.*1120G= (n.*1120G=) c.771G= (p.Arg257=) c.2541G= (p.Arg847=) n.2556G= c.54G= (p.Arg18=) n.2780G= | |
| 11 | g.68413699G>T | CA475516471 | LRP5 | c.2514G>T (p.Arg838=) c.*1120G>T (n.*1120G>T) c.771G>T (p.Arg257=) c.2541G>T (p.Arg847=) n.2556G>T c.54G>T (p.Arg18=) n.2780G>T | |
| 11 | g.68413700G>A | CA224274592 | LRP5 | c.2515G>A (p.Val839Ile) c.*1121G>A (n.*1121G>A) c.772G>A (p.Val258Ile) c.2542G>A (p.Val848Ile) n.2557G>A c.55G>A (p.Val19Ile) n.2781G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413700G>C | CA381618099 | LRP5 | c.2515G>C (p.Val839Leu) c.*1121G>C (n.*1121G>C) c.772G>C (p.Val258Leu) c.2542G>C (p.Val848Leu) n.2557G>C c.55G>C (p.Val19Leu) n.2781G>C | |
| 11 | g.68413700G= | CA1980597868 | LRP5 | c.2515G= (p.Val839=) c.*1121G= (n.*1121G=) c.772G= (p.Val258=) c.2542G= (p.Val848=) n.2557G= c.55G= (p.Val19=) n.2781G= | |
| 11 | g.68413700G>T | CA381618100 | LRP5 | c.2515G>T (p.Val839Phe) c.*1121G>T (n.*1121G>T) c.772G>T (p.Val258Phe) c.2542G>T (p.Val848Phe) n.2557G>T c.55G>T (p.Val19Phe) n.2781G>T | gnomAD v4 |
| 11 | g.68413701T>A | CA381618102 | LRP5 | c.2516T>A (p.Val839Asp) c.*1122T>A (n.*1122T>A) c.773T>A (p.Val258Asp) c.2543T>A (p.Val848Asp) n.2558T>A c.56T>A (p.Val19Asp) n.2782T>A | |
| 11 | g.68413701T>C | CA381618104 | LRP5 | c.2516T>C (p.Val839Ala) c.*1122T>C (n.*1122T>C) c.773T>C (p.Val258Ala) c.2543T>C (p.Val848Ala) n.2558T>C c.56T>C (p.Val19Ala) n.2782T>C | ClinVar gnomAD v4 |
| 11 | g.68413701T>G | CA381618103 | LRP5 | c.2516T>G (p.Val839Gly) c.*1122T>G (n.*1122T>G) c.773T>G (p.Val258Gly) c.2543T>G (p.Val848Gly) n.2558T>G c.56T>G (p.Val19Gly) n.2782T>G | |
| 11 | g.68413702C>A | CA475516475 | LRP5 | c.2517C>A (p.Val839=) c.*1123C>A (n.*1123C>A) c.774C>A (p.Val258=) c.2544C>A (p.Val848=) n.2559C>A c.57C>A (p.Val19=) n.2783C>A | gnomAD v4 |
| 11 | g.68413702C= | CA1980597870 | LRP5 | c.2517C= (p.Val839=) c.*1123C= (n.*1123C=) c.774C= (p.Val258=) c.2544C= (p.Val848=) n.2559C= c.57C= (p.Val19=) n.2783C= | |
| 11 | g.68413702C>G | CA475516476 | LRP5 | c.2517C>G (p.Val839=) c.*1123C>G (n.*1123C>G) c.774C>G (p.Val258=) c.2544C>G (p.Val848=) n.2559C>G c.57C>G (p.Val19=) n.2783C>G | gnomAD v4 |
| 11 | g.68413702C>T | CA6149674 | LRP5 | c.2517C>T (p.Val839=) c.*1123C>T (n.*1123C>T) c.774C>T (p.Val258=) c.2544C>T (p.Val848=) n.2559C>T c.57C>T (p.Val19=) n.2783C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413703G>A | CA6149675 | LRP5 | c.2518G>A (p.Val840Met) c.*1124G>A (n.*1124G>A) c.775G>A (p.Val259Met) c.2545G>A (p.Val849Met) n.2560G>A c.58G>A (p.Val20Met) n.2784G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413703G>C | CA381618106 | LRP5 | c.2518G>C (p.Val840Leu) c.*1124G>C (n.*1124G>C) c.775G>C (p.Val259Leu) c.2545G>C (p.Val849Leu) n.2560G>C c.58G>C (p.Val20Leu) n.2784G>C | gnomAD v4 |
| 11 | g.68413703G= | CA1980597872 | LRP5 | c.2518G= (p.Val840=) c.*1124G= (n.*1124G=) c.775G= (p.Val259=) c.2545G= (p.Val849=) n.2560G= c.58G= (p.Val20=) n.2784G= | |
| 11 | g.68413703G>T | CA381618107 | LRP5 | c.2518G>T (p.Val840Leu) c.*1124G>T (n.*1124G>T) c.775G>T (p.Val259Leu) c.2545G>T (p.Val849Leu) n.2560G>T c.58G>T (p.Val20Leu) n.2784G>T | |
| 11 | g.68413704T>A | CA381618110 | LRP5 | c.2519T>A (p.Val840Glu) c.*1125T>A (n.*1125T>A) c.776T>A (p.Val259Glu) c.2546T>A (p.Val849Glu) n.2561T>A c.59T>A (p.Val20Glu) n.2785T>A | |
| 11 | g.68413704T>C | CA381618111 | LRP5 | c.2519T>C (p.Val840Ala) c.*1125T>C (n.*1125T>C) c.776T>C (p.Val259Ala) c.2546T>C (p.Val849Ala) n.2561T>C c.59T>C (p.Val20Ala) n.2785T>C | |
| 11 | g.68413704T>G | CA381618113 | LRP5 | c.2519T>G (p.Val840Gly) c.*1125T>G (n.*1125T>G) c.776T>G (p.Val259Gly) c.2546T>G (p.Val849Gly) n.2561T>G c.59T>G (p.Val20Gly) n.2785T>G | |
| 11 | g.68413705_68413707del | CA2614714583 | LRP5 | c.2520_2522del (p.Ile841del) c.*1126_*1128del (n.*1126_*1128del) c.777_779del (p.Ile260del) c.2547_2549del (p.Ile850del) n.2562_2564del c.60_62del (p.Ile21del) n.2786_2788del | gnomAD v4 |
| 11 | g.68413705G>A | CA475516477 | LRP5 | c.2520G>A (p.Val840=) c.*1126G>A (n.*1126G>A) c.777G>A (p.Val259=) c.2547G>A (p.Val849=) n.2562G>A c.60G>A (p.Val20=) n.2786G>A | gnomAD v4 |
| 11 | g.68413705G>C | CA475516480 | LRP5 | c.2520G>C (p.Val840=) c.*1126G>C (n.*1126G>C) c.777G>C (p.Val259=) c.2547G>C (p.Val849=) n.2562G>C c.60G>C (p.Val20=) n.2786G>C | |
| 11 | g.68413705G>T | CA475516478 | LRP5 | c.2520G>T (p.Val840=) c.*1126G>T (n.*1126G>T) c.777G>T (p.Val259=) c.2547G>T (p.Val849=) n.2562G>T c.60G>T (p.Val20=) n.2786G>T | |
| 11 | g.68413706A>C | CA381618116 | LRP5 | c.2521A>C (p.Ile841Leu) c.*1127A>C (n.*1127A>C) c.778A>C (p.Ile260Leu) c.2548A>C (p.Ile850Leu) n.2563A>C c.61A>C (p.Ile21Leu) n.2787A>C | |
| 11 | g.68413706A>G | CA381618117 | LRP5 | c.2521A>G (p.Ile841Val) c.*1127A>G (n.*1127A>G) c.778A>G (p.Ile260Val) c.2548A>G (p.Ile850Val) n.2563A>G c.61A>G (p.Ile21Val) n.2787A>G | |
| 11 | g.68413706A>T | CA381618119 | LRP5 | c.2521A>T (p.Ile841Phe) c.*1127A>T (n.*1127A>T) c.778A>T (p.Ile260Phe) c.2548A>T (p.Ile850Phe) n.2563A>T c.61A>T (p.Ile21Phe) n.2787A>T | |
| 11 | g.68413707T>A | CA381618121 | LRP5 | c.2522T>A (p.Ile841Asn) c.*1128T>A (n.*1128T>A) c.779T>A (p.Ile260Asn) c.2549T>A (p.Ile850Asn) n.2564T>A c.62T>A (p.Ile21Asn) n.2788T>A | |
| 11 | g.68413707T>C | CA381618124 | LRP5 | c.2522T>C (p.Ile841Thr) c.*1128T>C (n.*1128T>C) c.779T>C (p.Ile260Thr) c.2549T>C (p.Ile850Thr) n.2564T>C c.62T>C (p.Ile21Thr) n.2788T>C | |
| 11 | g.68413707T>G | CA381618126 | LRP5 | c.2522T>G (p.Ile841Ser) c.*1128T>G (n.*1128T>G) c.779T>G (p.Ile260Ser) c.2549T>G (p.Ile850Ser) n.2564T>G c.62T>G (p.Ile21Ser) n.2788T>G | |
| 11 | g.68413707_68413708insCC | CA2614714584 | LRP5 | c.2522_2523insCC (p.Ala842LeufsTer11) c.*1128_*1129insCC (n.*1128_*1129insCC) c.779_780insCC (p.Ala261LeufsTer11) c.2549_2550insCC (p.Ala851LeufsTer11) n.2564_2565insCC c.62_63insCC (p.Ala22LeufsTer11) n.2788_2789insCC | gnomAD v4 |
| 11 | g.68413708T>A | CA475516484 | LRP5 | c.2523T>A (p.Ile841=) c.*1129T>A (n.*1129T>A) c.780T>A (p.Ile260=) c.2550T>A (p.Ile850=) n.2565T>A c.63T>A (p.Ile21=) n.2789T>A | gnomAD v4 |
| 11 | g.68413708T>C | CA475516485 | LRP5 | c.2523T>C (p.Ile841=) c.*1129T>C (n.*1129T>C) c.780T>C (p.Ile260=) c.2550T>C (p.Ile850=) n.2565T>C c.63T>C (p.Ile21=) n.2789T>C | |
| 11 | g.68413708T>G | CA381618128 | LRP5 | c.2523T>G (p.Ile841Met) c.*1129T>G (n.*1129T>G) c.780T>G (p.Ile260Met) c.2550T>G (p.Ile850Met) n.2565T>G c.63T>G (p.Ile21Met) n.2789T>G | dbSNP |
| 11 | g.68413708T= | CA1980597873 | LRP5 | c.2523T= (p.Ile841=) c.*1129T= (n.*1129T=) c.780T= (p.Ile260=) c.2550T= (p.Ile850=) n.2565T= c.63T= (p.Ile21=) n.2789T= | |
| 11 | g.68413709G>A | CA381618130 | LRP5 | c.2524G>A (p.Ala842Thr) c.*1130G>A (n.*1130G>A) c.781G>A (p.Ala261Thr) c.2551G>A (p.Ala851Thr) n.2566G>A c.64G>A (p.Ala22Thr) n.2790G>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68413709G>C | CA381618133 | LRP5 | c.2524G>C (p.Ala842Pro) c.*1130G>C (n.*1130G>C) c.781G>C (p.Ala261Pro) c.2551G>C (p.Ala851Pro) n.2566G>C c.64G>C (p.Ala22Pro) n.2790G>C | |
| 11 | g.68413709G= | CA1980597875 | LRP5 | c.2524G= (p.Ala842=) c.*1130G= (n.*1130G=) c.781G= (p.Ala261=) c.2551G= (p.Ala851=) n.2566G= c.64G= (p.Ala22=) n.2790G= | |
| 11 | g.68413709G>T | CA381618135 | LRP5 | c.2524G>T (p.Ala842Ser) c.*1130G>T (n.*1130G>T) c.781G>T (p.Ala261Ser) c.2551G>T (p.Ala851Ser) n.2566G>T c.64G>T (p.Ala22Ser) n.2790G>T | |
| 11 | g.68413710C>A | CA381618137 | LRP5 | c.2525C>A (p.Ala842Asp) c.*1131C>A (n.*1131C>A) c.782C>A (p.Ala261Asp) c.2552C>A (p.Ala851Asp) n.2567C>A c.65C>A (p.Ala22Asp) n.2791C>A | |
| 11 | g.68413710C>G | CA381618139 | LRP5 | c.2525C>G (p.Ala842Gly) c.*1131C>G (n.*1131C>G) c.782C>G (p.Ala261Gly) c.2552C>G (p.Ala851Gly) n.2567C>G c.65C>G (p.Ala22Gly) n.2791C>G | |
| 11 | g.68413710C>T | CA381618141 | LRP5 | c.2525C>T (p.Ala842Val) c.*1131C>T (n.*1131C>T) c.782C>T (p.Ala261Val) c.2552C>T (p.Ala851Val) n.2567C>T c.65C>T (p.Ala22Val) n.2791C>T | gnomAD v4 |
| 11 | g.68413711C>A | CA475516489 | LRP5 | c.2526C>A (p.Ala842=) c.*1132C>A (n.*1132C>A) c.783C>A (p.Ala261=) c.2553C>A (p.Ala851=) n.2568C>A c.66C>A (p.Ala22=) n.2792C>A | |
| 11 | g.68413711C= | CA1980597878 | LRP5 | c.2526C= (p.Ala842=) c.*1132C= (n.*1132C=) c.783C= (p.Ala261=) c.2553C= (p.Ala851=) n.2568C= c.66C= (p.Ala22=) n.2792C= | |
| 11 | g.68413711C>G | CA475516491 | LRP5 | c.2526C>G (p.Ala842=) c.*1132C>G (n.*1132C>G) c.783C>G (p.Ala261=) c.2553C>G (p.Ala851=) n.2568C>G c.66C>G (p.Ala22=) n.2792C>G | |
| 11 | g.68413711C>T | CA6149676 | LRP5 | c.2526C>T (p.Ala842=) c.*1132C>T (n.*1132C>T) c.783C>T (p.Ala261=) c.2553C>T (p.Ala851=) n.2568C>T c.66C>T (p.Ala22=) n.2792C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413712G>A | CA381618144 | LRP5 | c.2527G>A (p.Asp843Asn) c.*1133G>A (n.*1133G>A) c.784G>A (p.Asp262Asn) c.2554G>A (p.Asp852Asn) n.2569G>A c.67G>A (p.Asp23Asn) n.2793G>A | dbSNP gnomAD v4 COSMIC |
| 11 | g.68413712G>C | CA381618146 | LRP5 | c.2527G>C (p.Asp843His) c.*1133G>C (n.*1133G>C) c.784G>C (p.Asp262His) c.2554G>C (p.Asp852His) n.2569G>C c.67G>C (p.Asp23His) n.2793G>C | |
| 11 | g.68413712G= | CA1980597880 | LRP5 | c.2527G= (p.Asp843=) c.*1133G= (n.*1133G=) c.784G= (p.Asp262=) c.2554G= (p.Asp852=) n.2569G= c.67G= (p.Asp23=) n.2793G= | |
| 11 | g.68413712G>T | CA381618148 | LRP5 | c.2527G>T (p.Asp843Tyr) c.*1133G>T (n.*1133G>T) c.784G>T (p.Asp262Tyr) c.2554G>T (p.Asp852Tyr) n.2569G>T c.67G>T (p.Asp23Tyr) n.2793G>T | |
| 11 | g.68413713A= | CA1980597883 | LRP5 | c.2528A= (p.Asp843=) c.*1134A= (n.*1134A=) c.785A= (p.Asp262=) c.2555A= (p.Asp852=) n.2570A= c.68A= (p.Asp23=) n.2794A= | |
| 11 | g.68413713A>C | CA381618149 | LRP5 | c.2528A>C (p.Asp843Ala) c.*1134A>C (n.*1134A>C) c.785A>C (p.Asp262Ala) c.2555A>C (p.Asp852Ala) n.2570A>C c.68A>C (p.Asp23Ala) n.2794A>C | gnomAD v4 |
| 11 | g.68413713A>G | CA381618150 | LRP5 | c.2528A>G (p.Asp843Gly) c.*1134A>G (n.*1134A>G) c.785A>G (p.Asp262Gly) c.2555A>G (p.Asp852Gly) n.2570A>G c.68A>G (p.Asp23Gly) n.2794A>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68413713A>T | CA381618151 | LRP5 | c.2528A>T (p.Asp843Val) c.*1134A>T (n.*1134A>T) c.785A>T (p.Asp262Val) c.2555A>T (p.Asp852Val) n.2570A>T c.68A>T (p.Asp23Val) n.2794A>T | |
| 11 | g.68413714C>A | CA6149677 | LRP5 | c.2529C>A (p.Asp843Glu) c.*1135C>A (n.*1135C>A) c.786C>A (p.Asp262Glu) c.2556C>A (p.Asp852Glu) n.2571C>A c.69C>A (p.Asp23Glu) n.2795C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68413714C= | CA1980597885 | LRP5 | c.2529C= (p.Asp843=) c.*1135C= (n.*1135C=) c.786C= (p.Asp262=) c.2556C= (p.Asp852=) n.2571C= c.69C= (p.Asp23=) n.2795C= | |
| 11 | g.68413714C>G | CA381618154 | LRP5 | c.2529C>G (p.Asp843Glu) c.*1135C>G (n.*1135C>G) c.786C>G (p.Asp262Glu) c.2556C>G (p.Asp852Glu) n.2571C>G c.69C>G (p.Asp23Glu) n.2795C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413714C>T | CA200932 | LRP5 | c.2529C>T (p.Asp843=) c.*1135C>T (n.*1135C>T) c.786C>T (p.Asp262=) c.2556C>T (p.Asp852=) n.2571C>T c.69C>T (p.Asp23=) n.2795C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413715G>A | CA381618156 | LRP5 | c.2530G>A (p.Asp844Asn) c.*1136G>A (n.*1136G>A) c.787G>A (p.Asp263Asn) c.2557G>A (p.Asp853Asn) n.2572G>A c.70G>A (p.Asp24Asn) n.2796G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68413715G>C | CA381618158 | LRP5 | c.2530G>C (p.Asp844His) c.*1136G>C (n.*1136G>C) c.787G>C (p.Asp263His) c.2557G>C (p.Asp853His) n.2572G>C c.70G>C (p.Asp24His) n.2796G>C | gnomAD v4 |
| 11 | g.68413715G= | CA1980597892 | LRP5 | c.2530G= (p.Asp844=) c.*1136G= (n.*1136G=) c.787G= (p.Asp263=) c.2557G= (p.Asp853=) n.2572G= c.70G= (p.Asp24=) n.2796G= | |
| 11 | g.68413715G>T | CA381618160 | LRP5 | c.2530G>T (p.Asp844Tyr) c.*1136G>T (n.*1136G>T) c.787G>T (p.Asp263Tyr) c.2557G>T (p.Asp853Tyr) n.2572G>T c.70G>T (p.Asp24Tyr) n.2796G>T | COSMIC |
| 11 | g.68413716A= | CA1980597893 | LRP5 | c.2531A= (p.Asp844=) c.*1137A= (n.*1137A=) c.788A= (p.Asp263=) c.2558A= (p.Asp853=) n.2573A= c.71A= (p.Asp24=) n.2797A= | |
| 11 | g.68413716A>C | CA381618161 | LRP5 | c.2531A>C (p.Asp844Ala) c.*1137A>C (n.*1137A>C) c.788A>C (p.Asp263Ala) c.2558A>C (p.Asp853Ala) n.2573A>C c.71A>C (p.Asp24Ala) n.2797A>C | dbSNP |
| 11 | g.68413716A>G | CA381618162 | LRP5 | c.2531A>G (p.Asp844Gly) c.*1137A>G (n.*1137A>G) c.788A>G (p.Asp263Gly) c.2558A>G (p.Asp853Gly) n.2573A>G c.71A>G (p.Asp24Gly) n.2797A>G | gnomAD v4 |
| 11 | g.68413716A>T | CA381618164 | LRP5 | c.2531A>T (p.Asp844Val) c.*1137A>T (n.*1137A>T) c.788A>T (p.Asp263Val) c.2558A>T (p.Asp853Val) n.2573A>T c.71A>T (p.Asp24Val) n.2797A>T | |
| 11 | g.68413717T>A | CA381618166 | LRP5 | c.2532T>A (p.Asp844Glu) c.*1138T>A (n.*1138T>A) c.789T>A (p.Asp263Glu) c.2559T>A (p.Asp853Glu) n.2574T>A c.72T>A (p.Asp24Glu) n.2798T>A | |
| 11 | g.68413717T>C | CA475516500 | LRP5 | c.2532T>C (p.Asp844=) c.*1138T>C (n.*1138T>C) c.789T>C (p.Asp263=) c.2559T>C (p.Asp853=) n.2574T>C c.72T>C (p.Asp24=) n.2798T>C | |
| 11 | g.68413717T>G | CA381618167 | LRP5 | c.2532T>G (p.Asp844Glu) c.*1138T>G (n.*1138T>G) c.789T>G (p.Asp263Glu) c.2559T>G (p.Asp853Glu) n.2574T>G c.72T>G (p.Asp24Glu) n.2798T>G | |
| 11 | g.68413718C>A | CA381618170 | LRP5 | c.2533C>A (p.Leu845Ile) c.*1139C>A (n.*1139C>A) c.790C>A (p.Leu264Ile) c.2560C>A (p.Leu854Ile) n.2575C>A c.73C>A (p.Leu25Ile) n.2799C>A | |
| 11 | g.68413718C>G | CA381618173 | LRP5 | c.2533C>G (p.Leu845Val) c.*1139C>G (n.*1139C>G) c.790C>G (p.Leu264Val) c.2560C>G (p.Leu854Val) n.2575C>G c.73C>G (p.Leu25Val) n.2799C>G | |
| 11 | g.68413718C>T | CA381618171 | LRP5 | c.2533C>T (p.Leu845Phe) c.*1139C>T (n.*1139C>T) c.790C>T (p.Leu264Phe) c.2560C>T (p.Leu854Phe) n.2575C>T c.73C>T (p.Leu25Phe) n.2799C>T | ClinVar dbSNP |
| 11 | g.68413718_68413719insGGATATGTGTAGA | CA2614714588 | LRP5 | c.2533_2534insGGATATGTGTAGA (p.Leu845ArgfsTer29) c.*1139_*1140insGGATATGTGTAGA (n.*1139_*1140insGGATATGTGTAGA) c.790_791insGGATATGTGTAGA (p.Leu264ArgfsTer29) c.2560_2561insGGATATGTGTAGA (p.Leu854ArgfsTer29) n.2575_2576insGGATATGTGTAGA c.73_74insGGATATGTGTAGA (p.Leu25ArgfsTer29) n.2799_2800insGGATATGTGTAGA | gnomAD v4 |
| 11 | g.68413719T>A | CA381618176 | LRP5 | c.2534T>A (p.Leu845His) c.*1140T>A (n.*1140T>A) c.791T>A (p.Leu264His) c.2561T>A (p.Leu854His) n.2576T>A c.74T>A (p.Leu25His) n.2800T>A | |
| 11 | g.68413719T>C | CA381618178 | LRP5 | c.2534T>C (p.Leu845Pro) c.*1140T>C (n.*1140T>C) c.791T>C (p.Leu264Pro) c.2561T>C (p.Leu854Pro) n.2576T>C c.74T>C (p.Leu25Pro) n.2800T>C | |
| 11 | g.68413719T>G | CA381618179 | LRP5 | c.2534T>G (p.Leu845Arg) c.*1140T>G (n.*1140T>G) c.791T>G (p.Leu264Arg) c.2561T>G (p.Leu854Arg) n.2576T>G c.74T>G (p.Leu25Arg) n.2800T>G | |
| 11 | g.68413720C>A | CA475516508 | LRP5 | c.2535C>A (p.Leu845=) c.*1141C>A (n.*1141C>A) c.792C>A (p.Leu264=) c.2562C>A (p.Leu854=) n.2577C>A c.75C>A (p.Leu25=) n.2801C>A | |
| 11 | g.68413720C= | CA1980597895 | LRP5 | c.2535C= (p.Leu845=) c.*1141C= (n.*1141C=) c.792C= (p.Leu264=) c.2562C= (p.Leu854=) n.2577C= c.75C= (p.Leu25=) n.2801C= | |
| 11 | g.68413720C>G | CA6149678 | LRP5 | c.2535C>G (p.Leu845=) c.*1141C>G (n.*1141C>G) c.792C>G (p.Leu264=) c.2562C>G (p.Leu854=) n.2577C>G c.75C>G (p.Leu25=) n.2801C>G | dbSNP ExAC gnomAD v2 |
| 11 | g.68413720C>T | CA475516507 | LRP5 | c.2535C>T (p.Leu845=) c.*1141C>T (n.*1141C>T) c.792C>T (p.Leu264=) c.2562C>T (p.Leu854=) n.2577C>T c.75C>T (p.Leu25=) n.2801C>T | |
| 11 | g.68413720_68413724del | CA2614714589 | LRP5 | c.2535_2539del (p.His847ValfsTer21) c.*1141_*1145del (n.*1141_*1145del) c.792_796del (p.His266ValfsTer21) c.2562_2566del (p.His856ValfsTer21) n.2577_2581del c.75_79del (p.His27ValfsTer21) n.2801_2805del | gnomAD v4 |
| 11 | g.68413720_68413728del | CA2614714590 | LRP5 | c.2535_2543del (p.Pro846_Pro848del) c.*1141_*1149del (n.*1141_*1149del) c.792_800del (p.Pro265_Pro267del) c.2562_2570del (p.Pro855_Pro857del) n.2577_2585del c.75_83del (p.Pro26_Pro28del) n.2801_2809del | gnomAD v4 |
| 11 | g.68413721C>A | CA381618186 | LRP5 | c.2536C>A (p.Pro846Thr) c.*1142C>A (n.*1142C>A) c.793C>A (p.Pro265Thr) c.2563C>A (p.Pro855Thr) n.2578C>A c.76C>A (p.Pro26Thr) n.2802C>A | |
| 11 | g.68413721C>G | CA381618182 | LRP5 | c.2536C>G (p.Pro846Ala) c.*1142C>G (n.*1142C>G) c.793C>G (p.Pro265Ala) c.2563C>G (p.Pro855Ala) n.2578C>G c.76C>G (p.Pro26Ala) n.2802C>G | |
| 11 | g.68413721C>T | CA381618184 | LRP5 | c.2536C>T (p.Pro846Ser) c.*1142C>T (n.*1142C>T) c.793C>T (p.Pro265Ser) c.2563C>T (p.Pro855Ser) n.2578C>T c.76C>T (p.Pro26Ser) n.2802C>T | gnomAD v4 |
| 11 | g.68413722C>A | CA381618188 | LRP5 | c.2537C>A (p.Pro846Gln) c.*1143C>A (n.*1143C>A) c.794C>A (p.Pro265Gln) c.2564C>A (p.Pro855Gln) n.2579C>A c.77C>A (p.Pro26Gln) n.2803C>A | |
| 11 | g.68413722C= | CA1980597897 | LRP5 | c.2537C= (p.Pro846=) c.*1143C= (n.*1143C=) c.794C= (p.Pro265=) c.2564C= (p.Pro855=) n.2579C= c.77C= (p.Pro26=) n.2803C= | |
| 11 | g.68413722C>G | CA381618190 | LRP5 | c.2537C>G (p.Pro846Arg) c.*1143C>G (n.*1143C>G) c.794C>G (p.Pro265Arg) c.2564C>G (p.Pro855Arg) n.2579C>G c.77C>G (p.Pro26Arg) n.2803C>G | |
| 11 | g.68413722C>T | CA381618192 | LRP5 | c.2537C>T (p.Pro846Leu) c.*1143C>T (n.*1143C>T) c.794C>T (p.Pro265Leu) c.2564C>T (p.Pro855Leu) n.2579C>T c.77C>T (p.Pro26Leu) n.2803C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68413723G>A | CA6149680 | LRP5 | c.2538G>A (p.Pro846=) c.*1144G>A (n.*1144G>A) c.795G>A (p.Pro265=) c.2565G>A (p.Pro855=) n.2580G>A c.78G>A (p.Pro26=) n.2804G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68413723G>C | CA475516514 | LRP5 | c.2538G>C (p.Pro846=) c.*1144G>C (n.*1144G>C) c.795G>C (p.Pro265=) c.2565G>C (p.Pro855=) n.2580G>C c.78G>C (p.Pro26=) n.2804G>C | |
| 11 | g.68413723G= | CA1980597901 | LRP5 | c.2538G= (p.Pro846=) c.*1144G= (n.*1144G=) c.795G= (p.Pro265=) c.2565G= (p.Pro855=) n.2580G= c.78G= (p.Pro26=) n.2804G= | |
| 11 | g.68413723G>T | CA6149679 | LRP5 | c.2538G>T (p.Pro846=) c.*1144G>T (n.*1144G>T) c.795G>T (p.Pro265=) c.2565G>T (p.Pro855=) n.2580G>T c.78G>T (p.Pro26=) n.2804G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68413724C>A | CA381618196 | LRP5 | c.2539C>A (p.His847Asn) c.*1145C>A (n.*1145C>A) c.796C>A (p.His266Asn) c.2566C>A (p.His856Asn) n.2581C>A c.79C>A (p.His27Asn) n.2805C>A | |
| 11 | g.68413724C>G | CA381618197 | LRP5 | c.2539C>G (p.His847Asp) c.*1145C>G (n.*1145C>G) c.796C>G (p.His266Asp) c.2566C>G (p.His856Asp) n.2581C>G c.79C>G (p.His27Asp) n.2805C>G | |
| 11 | g.68413724C>T | CA381618198 | LRP5 | c.2539C>T (p.His847Tyr) c.*1145C>T (n.*1145C>T) c.796C>T (p.His266Tyr) c.2566C>T (p.His856Tyr) n.2581C>T c.79C>T (p.His27Tyr) n.2805C>T | gnomAD v4 |
| 11 | g.68413725A>C | CA381618199 | LRP5 | c.2540A>C (p.His847Pro) c.*1146A>C (n.*1146A>C) c.797A>C (p.His266Pro) c.2567A>C (p.His856Pro) n.2582A>C c.80A>C (p.His27Pro) n.2806A>C | |
| 11 | g.68413725A>G | CA381618200 | LRP5 | c.2540A>G (p.His847Arg) c.*1146A>G (n.*1146A>G) c.797A>G (p.His266Arg) c.2567A>G (p.His856Arg) n.2582A>G c.80A>G (p.His27Arg) n.2806A>G | ClinVar gnomAD v4 |
| 11 | g.68413725A>T | CA381618202 | LRP5 | c.2540A>T (p.His847Leu) c.*1146A>T (n.*1146A>T) c.797A>T (p.His266Leu) c.2567A>T (p.His856Leu) n.2582A>T c.80A>T (p.His27Leu) n.2806A>T | |
| 11 | g.68413726C>A | CA381618204 | LRP5 | c.2541C>A (p.His847Gln) c.*1147C>A (n.*1147C>A) c.798C>A (p.His266Gln) c.2568C>A (p.His856Gln) n.2583C>A c.81C>A (p.His27Gln) n.2807C>A | |
| 11 | g.68413726C= | CA1980597904 | LRP5 | c.2541C= (p.His847=) c.*1147C= (n.*1147C=) c.798C= (p.His266=) c.2568C= (p.His856=) n.2583C= c.81C= (p.His27=) n.2807C= | |
| 11 | g.68413726C>G | CA381618206 | LRP5 | c.2541C>G (p.His847Gln) c.*1147C>G (n.*1147C>G) c.798C>G (p.His266Gln) c.2568C>G (p.His856Gln) n.2583C>G c.81C>G (p.His27Gln) n.2807C>G | |
| 11 | g.68413726C>T | CA475516519 | LRP5 | c.2541C>T (p.His847=) c.*1147C>T (n.*1147C>T) c.798C>T (p.His266=) c.2568C>T (p.His856=) n.2583C>T c.81C>T (p.His27=) n.2807C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68413726_68413727insT | CA2614714591 | LRP5 | c.2541_2542insT (p.Pro848SerfsTer22) c.*1147_*1148insT (n.*1147_*1148insT) c.798_799insT (p.Pro267SerfsTer22) c.2568_2569insT (p.Pro857SerfsTer22) n.2583_2584insT c.81_82insT (p.Pro28SerfsTer22) n.2807_2808insT | gnomAD v4 |
| 11 | g.68413727C>A | CA381618212 | LRP5 | c.2542C>A (p.Pro848Thr) c.*1148C>A (n.*1148C>A) c.799C>A (p.Pro267Thr) c.2569C>A (p.Pro857Thr) n.2584C>A c.82C>A (p.Pro28Thr) n.2808C>A | |
| 11 | g.68413727C>G | CA381618208 | LRP5 | c.2542C>G (p.Pro848Ala) c.*1148C>G (n.*1148C>G) c.799C>G (p.Pro267Ala) c.2569C>G (p.Pro857Ala) n.2584C>G c.82C>G (p.Pro28Ala) n.2808C>G | |
| 11 | g.68413727C>T | CA381618210 | LRP5 | c.2542C>T (p.Pro848Ser) c.*1148C>T (n.*1148C>T) c.799C>T (p.Pro267Ser) c.2569C>T (p.Pro857Ser) n.2584C>T c.82C>T (p.Pro28Ser) n.2808C>T | |
| 11 | g.68413728C>A | CA381618215 | LRP5 | c.2543C>A (p.Pro848Gln) c.*1149C>A (n.*1149C>A) c.800C>A (p.Pro267Gln) c.2570C>A (p.Pro857Gln) n.2585C>A c.83C>A (p.Pro28Gln) n.2809C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68413728C= | CA1980597907 | LRP5 | c.2543C= (p.Pro848=) c.*1149C= (n.*1149C=) c.800C= (p.Pro267=) c.2570C= (p.Pro857=) n.2585C= c.83C= (p.Pro28=) n.2809C= | |
| 11 | g.68413728C>G | CA381618216 | LRP5 | c.2543C>G (p.Pro848Arg) c.*1149C>G (n.*1149C>G) c.800C>G (p.Pro267Arg) c.2570C>G (p.Pro857Arg) n.2585C>G c.83C>G (p.Pro28Arg) n.2809C>G | |
| 11 | g.68413728C>T | CA381618218 | LRP5 | c.2543C>T (p.Pro848Leu) c.*1149C>T (n.*1149C>T) c.800C>T (p.Pro267Leu) c.2570C>T (p.Pro857Leu) n.2585C>T c.83C>T (p.Pro28Leu) n.2809C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.68413729G>A | CA6149681 | LRP5 | c.2544G>A (p.Pro848=) c.*1150G>A (n.*1150G>A) c.801G>A (p.Pro267=) c.2571G>A (p.Pro857=) n.2586G>A c.84G>A (p.Pro28=) n.2810G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413729G>C | CA475516524 | LRP5 | c.2544G>C (p.Pro848=) c.*1150G>C (n.*1150G>C) c.801G>C (p.Pro267=) c.2571G>C (p.Pro857=) n.2586G>C c.84G>C (p.Pro28=) n.2810G>C | |
| 11 | g.68413729G= | CA1980597913 | LRP5 | c.2544G= (p.Pro848=) c.*1150G= (n.*1150G=) c.801G= (p.Pro267=) c.2571G= (p.Pro857=) n.2586G= c.84G= (p.Pro28=) n.2810G= | |
| 11 | g.68413729G>T | CA6149682 | LRP5 | c.2544G>T (p.Pro848=) c.*1150G>T (n.*1150G>T) c.801G>T (p.Pro267=) c.2571G>T (p.Pro857=) n.2586G>T c.84G>T (p.Pro28=) n.2810G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68413730T>A | CA381618226 | LRP5 | c.2545T>A (p.Phe849Ile) c.*1151T>A (n.*1151T>A) c.802T>A (p.Phe268Ile) c.2572T>A (p.Phe858Ile) n.2587T>A c.85T>A (p.Phe29Ile) n.2811T>A | |
| 11 | g.68413730T>C | CA381618224 | LRP5 | c.2545T>C (p.Phe849Leu) c.*1151T>C (n.*1151T>C) c.802T>C (p.Phe268Leu) c.2572T>C (p.Phe858Leu) n.2587T>C c.85T>C (p.Phe29Leu) n.2811T>C | |
| 11 | g.68413730T>G | CA381618222 | LRP5 | c.2545T>G (p.Phe849Val) c.*1151T>G (n.*1151T>G) c.802T>G (p.Phe268Val) c.2572T>G (p.Phe858Val) n.2587T>G c.85T>G (p.Phe29Val) n.2811T>G | |
| 11 | g.68413730_68413731insGTAGATC | CA2614714593 | LRP5 | c.2545_2546insGTAGATC (p.Phe849CysfsTer23) c.*1151_*1152insGTAGATC (n.*1151_*1152insGTAGATC) c.802_803insGTAGATC (p.Phe268CysfsTer23) c.2572_2573insGTAGATC (p.Phe858CysfsTer23) n.2587_2588insGTAGATC c.85_86insGTAGATC (p.Phe29CysfsTer23) n.2811_2812insGTAGATC | gnomAD v4 |
| 11 | g.68413730_68413731insGAAGTGTAGATC | CA2614714592 | LRP5 | c.2545_2546insGAAGTGTAGATC (p.Phe849Ter) c.*1151_*1152insGAAGTGTAGATC (n.*1151_*1152insGAAGTGTAGATC) c.802_803insGAAGTGTAGATC (p.Phe268Ter) c.2572_2573insGAAGTGTAGATC (p.Phe858Ter) n.2587_2588insGAAGTGTAGATC c.85_86insGAAGTGTAGATC (p.Phe29Ter) n.2811_2812insGAAGTGTAGATC | gnomAD v4 |
| 11 | g.68413731T>A | CA381618228 | LRP5 | c.2546T>A (p.Phe849Tyr) c.*1152T>A (n.*1152T>A) c.803T>A (p.Phe268Tyr) c.2573T>A (p.Phe858Tyr) n.2588T>A c.86T>A (p.Phe29Tyr) n.2812T>A | |
| 11 | g.68413731T>C | CA381618230 | LRP5 | c.2546T>C (p.Phe849Ser) c.*1152T>C (n.*1152T>C) c.803T>C (p.Phe268Ser) c.2573T>C (p.Phe858Ser) n.2588T>C c.86T>C (p.Phe29Ser) n.2812T>C | gnomAD v4 |
| 11 | g.68413731T>G | CA381618232 | LRP5 | c.2546T>G (p.Phe849Cys) c.*1152T>G (n.*1152T>G) c.803T>G (p.Phe268Cys) c.2573T>G (p.Phe858Cys) n.2588T>G c.86T>G (p.Phe29Cys) n.2812T>G | |
| 11 | g.68413731_68413732del | CA2792541103 | LRP5 | c.2546_2547del (p.Phe849TrpfsTer20) c.*1152_*1153del (n.*1152_*1153del) c.803_804del (p.Phe268TrpfsTer20) c.2573_2574del (p.Phe858TrpfsTer20) n.2588_2589del c.86_87del (p.Phe29TrpfsTer20) n.2812_2813del | |
| 11 | g.68413732C>A | CA381618234 | LRP5 | c.2547C>A (p.Phe849Leu) c.*1153C>A (n.*1153C>A) c.804C>A (p.Phe268Leu) c.2574C>A (p.Phe858Leu) n.2589C>A c.87C>A (p.Phe29Leu) n.2813C>A | |
| 11 | g.68413732C= | CA1980597919 | LRP5 | c.2547C= (p.Phe849=) c.*1153C= (n.*1153C=) c.804C= (p.Phe268=) c.2574C= (p.Phe858=) n.2589C= c.87C= (p.Phe29=) n.2813C= | |
| 11 | g.68413732C>G | CA381618236 | LRP5 | c.2547C>G (p.Phe849Leu) c.*1153C>G (n.*1153C>G) c.804C>G (p.Phe268Leu) c.2574C>G (p.Phe858Leu) n.2589C>G c.87C>G (p.Phe29Leu) n.2813C>G | ClinVar dbSNP |
| 11 | g.68413732C>T | CA6149683 | LRP5 | c.2547C>T (p.Phe849=) c.*1153C>T (n.*1153C>T) c.804C>T (p.Phe268=) c.2574C>T (p.Phe858=) n.2589C>T c.87C>T (p.Phe29=) n.2813C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68413733G>A | CA6149684 | LRP5 | c.2548G>A (p.Gly850Ser) c.*1154G>A (n.*1154G>A) c.805G>A (p.Gly269Ser) c.2575G>A (p.Gly859Ser) n.2590G>A c.88G>A (p.Gly30Ser) n.2814G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413733G>C | CA381618239 | LRP5 | c.2548G>C (p.Gly850Arg) c.*1154G>C (n.*1154G>C) c.805G>C (p.Gly269Arg) c.2575G>C (p.Gly859Arg) n.2590G>C c.88G>C (p.Gly30Arg) n.2814G>C | |
| 11 | g.68413733G= | CA1980597922 | LRP5 | c.2548G= (p.Gly850=) c.*1154G= (n.*1154G=) c.805G= (p.Gly269=) c.2575G= (p.Gly859=) n.2590G= c.88G= (p.Gly30=) n.2814G= | |
| 11 | g.68413733G>T | CA381618241 | LRP5 | c.2548G>T (p.Gly850Cys) c.*1154G>T (n.*1154G>T) c.805G>T (p.Gly269Cys) c.2575G>T (p.Gly859Cys) n.2590G>T c.88G>T (p.Gly30Cys) n.2814G>T | |
| 11 | g.68413734G>A | CA381618243 | LRP5 | c.2549G>A (p.Gly850Asp) c.*1155G>A (n.*1155G>A) c.806G>A (p.Gly269Asp) c.2576G>A (p.Gly859Asp) n.2591G>A c.89G>A (p.Gly30Asp) n.2815G>A | |
| 11 | g.68413734G>C | CA381618245 | LRP5 | c.2549G>C (p.Gly850Ala) c.*1155G>C (n.*1155G>C) c.806G>C (p.Gly269Ala) c.2576G>C (p.Gly859Ala) n.2591G>C c.89G>C (p.Gly30Ala) n.2815G>C | |
| 11 | g.68413734G>T | CA381618247 | LRP5 | c.2549G>T (p.Gly850Val) c.*1155G>T (n.*1155G>T) c.806G>T (p.Gly269Val) c.2576G>T (p.Gly859Val) n.2591G>T c.89G>T (p.Gly30Val) n.2815G>T | |
| 11 | g.68413735T>A | CA475516533 | LRP5 | c.2550T>A (p.Gly850=) c.*1156T>A (n.*1156T>A) c.807T>A (p.Gly269=) c.2577T>A (p.Gly859=) n.2592T>A c.90T>A (p.Gly30=) n.2816T>A | |
| 11 | g.68413735T>C | CA6149685 | LRP5 | c.2550T>C (p.Gly850=) c.*1156T>C (n.*1156T>C) c.807T>C (p.Gly269=) c.2577T>C (p.Gly859=) n.2592T>C c.90T>C (p.Gly30=) n.2816T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68413735T>G | CA475516534 | LRP5 | c.2550T>G (p.Gly850=) c.*1156T>G (n.*1156T>G) c.807T>G (p.Gly269=) c.2577T>G (p.Gly859=) n.2592T>G c.90T>G (p.Gly30=) n.2816T>G | |
| 11 | g.68413735T= | CA1980597925 | LRP5 | c.2550T= (p.Gly850=) c.*1156T= (n.*1156T=) c.807T= (p.Gly269=) c.2577T= (p.Gly859=) n.2592T= c.90T= (p.Gly30=) n.2816T= | |
| 11 | g.68413736del | CA2614714594 | LRP5 | c.2551del (p.Leu851Ter) c.*1157del (n.*1157del) c.808del (p.Leu270Ter) c.2578del (p.Leu860Ter) n.2593del c.91del (p.Leu31Ter) n.2817del | gnomAD v4 |
| 11 | g.68413736C>A | CA381618249 | LRP5 | c.2551C>A (p.Leu851Met) c.*1157C>A (n.*1157C>A) c.808C>A (p.Leu270Met) c.2578C>A (p.Leu860Met) n.2593C>A c.91C>A (p.Leu31Met) n.2817C>A | |
| 11 | g.68413736C>G | CA381618251 | LRP5 | c.2551C>G (p.Leu851Val) c.*1157C>G (n.*1157C>G) c.808C>G (p.Leu270Val) c.2578C>G (p.Leu860Val) n.2593C>G c.91C>G (p.Leu31Val) n.2817C>G | |
| 11 | g.68413736C>T | CA475516535 | LRP5 | c.2551C>T (p.Leu851=) c.*1157C>T (n.*1157C>T) c.808C>T (p.Leu270=) c.2578C>T (p.Leu860=) n.2593C>T c.91C>T (p.Leu31=) n.2817C>T | |
| 11 | g.68413737T>A | CA381618252 | LRP5 | c.2552T>A (p.Leu851Gln) c.*1158T>A (n.*1158T>A) c.809T>A (p.Leu270Gln) c.2579T>A (p.Leu860Gln) n.2594T>A c.92T>A (p.Leu31Gln) n.2818T>A | |
| 11 | g.68413737T>C | CA381618253 | LRP5 | c.2552T>C (p.Leu851Pro) c.*1158T>C (n.*1158T>C) c.809T>C (p.Leu270Pro) c.2579T>C (p.Leu860Pro) n.2594T>C c.92T>C (p.Leu31Pro) n.2818T>C | |
| 11 | g.68413737T>G | CA381618254 | LRP5 | c.2552T>G (p.Leu851Arg) c.*1158T>G (n.*1158T>G) c.809T>G (p.Leu270Arg) c.2579T>G (p.Leu860Arg) n.2594T>G c.92T>G (p.Leu31Arg) n.2818T>G | gnomAD v4 |
| 11 | g.68413738G>A | CA475516537 | LRP5 | c.2553G>A (p.Leu851=) c.*1159G>A (n.*1159G>A) c.810G>A (p.Leu270=) c.2580G>A (p.Leu860=) n.2595G>A c.93G>A (p.Leu31=) n.2819G>A | |
| 11 | g.68413738G>C | CA475516539 | LRP5 | c.2553G>C (p.Leu851=) c.*1159G>C (n.*1159G>C) c.810G>C (p.Leu270=) c.2580G>C (p.Leu860=) n.2595G>C c.93G>C (p.Leu31=) n.2819G>C | |
| 11 | g.68413738G>T | CA475516541 | LRP5 | c.2553G>T (p.Leu851=) c.*1159G>T (n.*1159G>T) c.810G>T (p.Leu270=) c.2580G>T (p.Leu860=) n.2595G>T c.93G>T (p.Leu31=) n.2819G>T | |
| 11 | g.68413739A>C | CA381618255 | LRP5 | c.2554A>C (p.Thr852Pro) c.*1160A>C (n.*1160A>C) c.811A>C (p.Thr271Pro) c.2581A>C (p.Thr861Pro) n.2596A>C c.94A>C (p.Thr32Pro) n.2820A>C | |
| 11 | g.68413739A>G | CA381618256 | LRP5 | c.2554A>G (p.Thr852Ala) c.*1160A>G (n.*1160A>G) c.811A>G (p.Thr271Ala) c.2581A>G (p.Thr861Ala) n.2596A>G c.94A>G (p.Thr32Ala) n.2820A>G | |
| 11 | g.68413739A>T | CA381618258 | LRP5 | c.2554A>T (p.Thr852Ser) c.*1160A>T (n.*1160A>T) c.811A>T (p.Thr271Ser) c.2581A>T (p.Thr861Ser) n.2596A>T c.94A>T (p.Thr32Ser) n.2820A>T | gnomAD v4 |
| 11 | g.68413740C>A | CA381618263 | LRP5 | c.2555C>A (p.Thr852Lys) c.*1161C>A (n.*1161C>A) c.812C>A (p.Thr271Lys) c.2582C>A (p.Thr861Lys) n.2597C>A c.95C>A (p.Thr32Lys) n.2821C>A | |
| 11 | g.68413740C= | CA1980597927 | LRP5 | c.2555C= (p.Thr852=) c.*1161C= (n.*1161C=) c.812C= (p.Thr271=) c.2582C= (p.Thr861=) n.2597C= c.95C= (p.Thr32=) n.2821C= | |
| 11 | g.68413740C>G | CA381618260 | LRP5 | c.2555C>G (p.Thr852Arg) c.*1161C>G (n.*1161C>G) c.812C>G (p.Thr271Arg) c.2582C>G (p.Thr861Arg) n.2597C>G c.95C>G (p.Thr32Arg) n.2821C>G | gnomAD v4 |
| 11 | g.68413740C>T | CA381618261 | LRP5 | c.2555C>T (p.Thr852Met) c.*1161C>T (n.*1161C>T) c.812C>T (p.Thr271Met) c.2582C>T (p.Thr861Met) n.2597C>T c.95C>T (p.Thr32Met) n.2821C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68413741G>A | CA6149686 | LRP5 | c.2556G>A (p.Thr852=) c.*1162G>A (n.*1162G>A) c.813G>A (p.Thr271=) c.2583G>A (p.Thr861=) n.2598G>A c.96G>A (p.Thr32=) n.2822G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413741G>C | CA475516547 | LRP5 | c.2556G>C (p.Thr852=) c.*1162G>C (n.*1162G>C) c.813G>C (p.Thr271=) c.2583G>C (p.Thr861=) n.2598G>C c.96G>C (p.Thr32=) n.2822G>C | dbSNP |
| 11 | g.68413741G= | CA1980597930 | LRP5 | c.2556G= (p.Thr852=) c.*1162G= (n.*1162G=) c.813G= (p.Thr271=) c.2583G= (p.Thr861=) n.2598G= c.96G= (p.Thr32=) n.2822G= | |
| 11 | g.68413741G>T | CA475516546 | LRP5 | c.2556G>T (p.Thr852=) c.*1162G>T (n.*1162G>T) c.813G>T (p.Thr271=) c.2583G>T (p.Thr861=) n.2598G>T c.96G>T (p.Thr32=) n.2822G>T | gnomAD v4 |
| 11 | g.68413742C>A | CA381618268 | LRP5 | c.2557C>A (p.Gln853Lys) c.*1163C>A (n.*1163C>A) c.814C>A (p.Gln272Lys) c.2584C>A (p.Gln862Lys) n.2599C>A c.97C>A (p.Gln33Lys) n.2823C>A | |
| 11 | g.68413742C= | CA1980597936 | LRP5 | c.2557C= (p.Gln853=) c.*1163C= (n.*1163C=) c.814C= (p.Gln272=) c.2584C= (p.Gln862=) n.2599C= c.97C= (p.Gln33=) n.2823C= | |
| 11 | g.68413742C>G | CA381618266 | LRP5 | c.2557C>G (p.Gln853Glu) c.*1163C>G (n.*1163C>G) c.814C>G (p.Gln272Glu) c.2584C>G (p.Gln862Glu) n.2599C>G c.97C>G (p.Gln33Glu) n.2823C>G | |
| 11 | g.68413742C>T | CA118087 | LRP5 | c.2557C>T (p.Gln853Ter) c.*1163C>T (n.*1163C>T) c.814C>T (p.Gln272Ter) c.2584C>T (p.Gln862Ter) n.2599C>T c.97C>T (p.Gln33Ter) n.2823C>T | ClinVar dbSNP |
| 11 | g.68413743A>C | CA381618270 | LRP5 | c.2558A>C (p.Gln853Pro) c.*1164A>C (n.*1164A>C) c.815A>C (p.Gln272Pro) c.2585A>C (p.Gln862Pro) n.2600A>C c.98A>C (p.Gln33Pro) n.2824A>C | gnomAD v4 |
| 11 | g.68413743A>G | CA381618272 | LRP5 | c.2558A>G (p.Gln853Arg) c.*1164A>G (n.*1164A>G) c.815A>G (p.Gln272Arg) c.2585A>G (p.Gln862Arg) n.2600A>G c.98A>G (p.Gln33Arg) n.2824A>G | |
| 11 | g.68413743A>T | CA381618275 | LRP5 | c.2558A>T (p.Gln853Leu) c.*1164A>T (n.*1164A>T) c.815A>T (p.Gln272Leu) c.2585A>T (p.Gln862Leu) n.2600A>T c.98A>T (p.Gln33Leu) n.2824A>T | |
| 11 | g.68413744G>A | CA475516550 | LRP5 | c.2559G>A (p.Gln853=) c.*1165G>A (n.*1165G>A) c.816G>A (p.Gln272=) c.2586G>A (p.Gln862=) n.2601G>A c.99G>A (p.Gln33=) n.2825G>A | |
| 11 | g.68413744G>C | CA381618277 | LRP5 | c.2559G>C (p.Gln853His) c.*1165G>C (n.*1165G>C) c.816G>C (p.Gln272His) c.2586G>C (p.Gln862His) n.2601G>C c.99G>C (p.Gln33His) n.2825G>C | |
| 11 | g.68413744G>T | CA381618279 | LRP5 | c.2559G>T (p.Gln853His) c.*1165G>T (n.*1165G>T) c.816G>T (p.Gln272His) c.2586G>T (p.Gln862His) n.2601G>T c.99G>T (p.Gln33His) n.2825G>T | |
| 11 | g.68413745T>A | CA381618282 | LRP5 | c.2560T>A (p.Tyr854Asn) c.*1166T>A (n.*1166T>A) c.817T>A (p.Tyr273Asn) c.2587T>A (p.Tyr863Asn) n.2602T>A c.100T>A (p.Tyr34Asn) n.2826T>A | |
| 11 | g.68413745T>C | CA381618284 | LRP5 | c.2560T>C (p.Tyr854His) c.*1166T>C (n.*1166T>C) c.817T>C (p.Tyr273His) c.2587T>C (p.Tyr863His) n.2602T>C c.100T>C (p.Tyr34His) n.2826T>C | |
| 11 | g.68413745T>G | CA381618285 | LRP5 | c.2560T>G (p.Tyr854Asp) c.*1166T>G (n.*1166T>G) c.817T>G (p.Tyr273Asp) c.2587T>G (p.Tyr863Asp) n.2602T>G c.100T>G (p.Tyr34Asp) n.2826T>G | |
| 11 | g.68413746A>C | CA381618288 | LRP5 | c.2561A>C (p.Tyr854Ser) c.*1167A>C (n.*1167A>C) c.818A>C (p.Tyr273Ser) c.2588A>C (p.Tyr863Ser) n.2603A>C c.101A>C (p.Tyr34Ser) n.2827A>C | |
| 11 | g.68413746A>G | CA381618289 | LRP5 | c.2561A>G (p.Tyr854Cys) c.*1167A>G (n.*1167A>G) c.818A>G (p.Tyr273Cys) c.2588A>G (p.Tyr863Cys) n.2603A>G c.101A>G (p.Tyr34Cys) n.2827A>G | |
| 11 | g.68413746A>T | CA381618291 | LRP5 | c.2561A>T (p.Tyr854Phe) c.*1167A>T (n.*1167A>T) c.818A>T (p.Tyr273Phe) c.2588A>T (p.Tyr863Phe) n.2603A>T c.101A>T (p.Tyr34Phe) n.2827A>T | |
| 11 | g.68413746_68413747insT | CA2614714597 | LRP5 | c.2561_2562insT (p.Ser855GlnfsTer15) c.*1167_*1168insT (n.*1167_*1168insT) c.818_819insT (p.Ser274GlnfsTer15) c.2588_2589insT (p.Ser864GlnfsTer15) n.2603_2604insT c.101_102insT (p.Ser35GlnfsTer15) n.2827_2828insT | gnomAD v4 |
| 11 | g.68413747C>A | CA381618292 | LRP5 | c.2562C>A (p.Tyr854Ter) c.*1168C>A (n.*1168C>A) c.819C>A (p.Tyr273Ter) c.2589C>A (p.Tyr863Ter) n.2604C>A c.102C>A (p.Tyr34Ter) n.2828C>A | |
| 11 | g.68413747C= | CA1980597940 | LRP5 | c.2562C= (p.Tyr854=) c.*1168C= (n.*1168C=) c.819C= (p.Tyr273=) c.2589C= (p.Tyr863=) n.2604C= c.102C= (p.Tyr34=) n.2828C= | |
| 11 | g.68413747C>G | CA381618295 | LRP5 | c.2562C>G (p.Tyr854Ter) c.*1168C>G (n.*1168C>G) c.819C>G (p.Tyr273Ter) c.2589C>G (p.Tyr863Ter) n.2604C>G c.102C>G (p.Tyr34Ter) n.2828C>G | |
| 11 | g.68413747C>T | CA6149687 | LRP5 | c.2562C>T (p.Tyr854=) c.*1168C>T (n.*1168C>T) c.819C>T (p.Tyr273=) c.2589C>T (p.Tyr863=) n.2604C>T c.102C>T (p.Tyr34=) n.2828C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68413748A>C | CA381618297 | LRP5 | c.2563A>C (p.Ser855Arg) c.*1169A>C (n.*1169A>C) c.820A>C (p.Ser274Arg) c.2590A>C (p.Ser864Arg) n.2605A>C c.103A>C (p.Ser35Arg) n.2829A>C | |
| 11 | g.68413748A>G | CA381618299 | LRP5 | c.2563A>G (p.Ser855Gly) c.*1169A>G (n.*1169A>G) c.820A>G (p.Ser274Gly) c.2590A>G (p.Ser864Gly) n.2605A>G c.103A>G (p.Ser35Gly) n.2829A>G | gnomAD v4 |
| 11 | g.68413748A>T | CA381618301 | LRP5 | c.2563A>T (p.Ser855Cys) c.*1169A>T (n.*1169A>T) c.820A>T (p.Ser274Cys) c.2590A>T (p.Ser864Cys) n.2605A>T c.103A>T (p.Ser35Cys) n.2829A>T | gnomAD v4 |
| 11 | g.68413749_68413752del | CA2614714598 | LRP5 | c.2564_2567del (p.Ser855IlefsTer?) c.*1170_*1173del (n.*1170_*1173del) c.821_824del (p.Ser274IlefsTer?) c.2591_2594del (p.Ser864IlefsTer?) n.2606_2609del c.104_107del (p.Ser35IlefsTer?) n.2830_2833del | gnomAD v4 |