OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68423430_68423469del | CA2614714207 | LRP5 | c.3028-59_3028-20del (n.3028-59_3028-20del) c.*1634-59_*1634-20del (n.*1634-59_*1634-20del) c.1285-59_1285-20del (n.1285-59_1285-20del) c.3055-59_3055-20del (n.3055-59_3055-20del) n.3070-59_3070-20del c.568-59_568-20del (n.568-59_568-20del) | gnomAD v4 |
| 11 | g.68423450_68423469del | CA2614714237 | LRP5 | c.3028-39_3028-20del (n.3028-39_3028-20del) c.*1634-39_*1634-20del (n.*1634-39_*1634-20del) c.1285-39_1285-20del (n.1285-39_1285-20del) c.3055-39_3055-20del (n.3055-39_3055-20del) n.3070-39_3070-20del c.568-39_568-20del (n.568-39_568-20del) | gnomAD v4 |
| 11 | g.68423468C= | CA1980607900 | LRP5 | c.3028-21C= (n.3028-21C=) c.*1634-21C= (n.*1634-21C=) c.1285-21C= (n.1285-21C=) c.3055-21C= (n.3055-21C=) n.3070-21C= c.568-21C= (n.568-21C=) | |
| 11 | g.68423468C>G | CA679578713 | LRP5 | c.3028-21C>G (n.3028-21C>G) c.*1634-21C>G (n.*1634-21C>G) c.1285-21C>G (n.1285-21C>G) c.3055-21C>G (n.3055-21C>G) n.3070-21C>G c.568-21C>G (n.568-21C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68423470T>G | CA600239155 | LRP5 | c.3028-19T>G (n.3028-19T>G) c.*1634-19T>G (n.*1634-19T>G) c.1285-19T>G (n.1285-19T>G) c.3055-19T>G (n.3055-19T>G) n.3070-19T>G c.568-19T>G (n.568-19T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68423470T= | CA1980607901 | LRP5 | c.3028-19T= (n.3028-19T=) c.*1634-19T= (n.*1634-19T=) c.1285-19T= (n.1285-19T=) c.3055-19T= (n.3055-19T=) n.3070-19T= c.568-19T= (n.568-19T=) | |
| 11 | g.68423472G>A | CA1980607904 | LRP5 | c.3028-17G>A (n.3028-17G>A) c.*1634-17G>A (n.*1634-17G>A) c.1285-17G>A (n.1285-17G>A) c.3055-17G>A (n.3055-17G>A) n.3070-17G>A c.568-17G>A (n.568-17G>A) | dbSNP |
| 11 | g.68423472G= | CA1980607903 | LRP5 | c.3028-17G= (n.3028-17G=) c.*1634-17G= (n.*1634-17G=) c.1285-17G= (n.1285-17G=) c.3055-17G= (n.3055-17G=) n.3070-17G= c.568-17G= (n.568-17G=) | |
| 11 | g.68423475T>C | CA6149831 | LRP5 | c.3028-14T>C (n.3028-14T>C) c.*1634-14T>C (n.*1634-14T>C) c.1285-14T>C (n.1285-14T>C) c.3055-14T>C (n.3055-14T>C) n.3070-14T>C c.568-14T>C (n.568-14T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68423475T>G | CA600239156 | LRP5 | c.3028-14T>G (n.3028-14T>G) c.*1634-14T>G (n.*1634-14T>G) c.1285-14T>G (n.1285-14T>G) c.3055-14T>G (n.3055-14T>G) n.3070-14T>G c.568-14T>G (n.568-14T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68423475T= | CA1980607907 | LRP5 | c.3028-14T= (n.3028-14T=) c.*1634-14T= (n.*1634-14T=) c.1285-14T= (n.1285-14T=) c.3055-14T= (n.3055-14T=) n.3070-14T= c.568-14T= (n.568-14T=) | |
| 11 | g.68423480G>T | CA2724559129 | LRP5 | c.3028-9G>T (n.3028-9G>T) c.*1634-9G>T (n.*1634-9G>T) c.1285-9G>T (n.1285-9G>T) c.3055-9G>T (n.3055-9G>T) n.3070-9G>T c.568-9G>T (n.568-9G>T) | dbSNP |
| 11 | g.68423481T>A | CA6149832 | LRP5 | c.3028-8T>A (n.3028-8T>A) c.*1634-8T>A (n.*1634-8T>A) c.1285-8T>A (n.1285-8T>A) c.3055-8T>A (n.3055-8T>A) n.3070-8T>A c.568-8T>A (n.568-8T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68423481T= | CA1980607910 | LRP5 | c.3028-8T= (n.3028-8T=) c.*1634-8T= (n.*1634-8T=) c.1285-8T= (n.1285-8T=) c.3055-8T= (n.3055-8T=) n.3070-8T= c.568-8T= (n.568-8T=) | |
| 11 | g.68423482C>A | CA600239157 | LRP5 | c.3028-7C>A (n.3028-7C>A) c.*1634-7C>A (n.*1634-7C>A) c.1285-7C>A (n.1285-7C>A) c.3055-7C>A (n.3055-7C>A) n.3070-7C>A c.568-7C>A (n.568-7C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68423482C= | CA1980607914 | LRP5 | c.3028-7C= (n.3028-7C=) c.*1634-7C= (n.*1634-7C=) c.1285-7C= (n.1285-7C=) c.3055-7C= (n.3055-7C=) n.3070-7C= c.568-7C= (n.568-7C=) | |
| 11 | g.68423482C>G | CA2499221263 | LRP5 | c.3028-7C>G (n.3028-7C>G) c.*1634-7C>G (n.*1634-7C>G) c.1285-7C>G (n.1285-7C>G) c.3055-7C>G (n.3055-7C>G) n.3070-7C>G c.568-7C>G (n.568-7C>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68423483T>A | CA6149833 | LRP5 | c.3028-6T>A (n.3028-6T>A) c.*1634-6T>A (n.*1634-6T>A) c.1285-6T>A (n.1285-6T>A) c.3055-6T>A (n.3055-6T>A) n.3070-6T>A c.568-6T>A (n.568-6T>A) | dbSNP ExAC gnomAD v2 |
| 11 | g.68423483T>G | CA6149834 | LRP5 | c.3028-6T>G (n.3028-6T>G) c.*1634-6T>G (n.*1634-6T>G) c.1285-6T>G (n.1285-6T>G) c.3055-6T>G (n.3055-6T>G) n.3070-6T>G c.568-6T>G (n.568-6T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68423483T= | CA1980607918 | LRP5 | c.3028-6T= (n.3028-6T=) c.*1634-6T= (n.*1634-6T=) c.1285-6T= (n.1285-6T=) c.3055-6T= (n.3055-6T=) n.3070-6T= c.568-6T= (n.568-6T=) | |
| 11 | g.68423484T>C | CA2614714295 | LRP5 | c.3028-5T>C (n.3028-5T>C) c.*1634-5T>C (n.*1634-5T>C) c.1285-5T>C (n.1285-5T>C) c.3055-5T>C (n.3055-5T>C) n.3070-5T>C c.568-5T>C (n.568-5T>C) | gnomAD v4 |
| 11 | g.68423485A>G | CA2614714296 | LRP5 | c.3028-4A>G (n.3028-4A>G) c.*1634-4A>G (n.*1634-4A>G) c.1285-4A>G (n.1285-4A>G) c.3055-4A>G (n.3055-4A>G) n.3070-4A>G c.568-4A>G (n.568-4A>G) | gnomAD v4 |
| 11 | g.68423486C= | CA1980607921 | LRP5 | c.3028-3C= (n.3028-3C=) c.*1634-3C= (n.*1634-3C=) c.1285-3C= (n.1285-3C=) c.3055-3C= (n.3055-3C=) n.3070-3C= c.568-3C= (n.568-3C=) | |
| 11 | g.68423486C>G | CA2574944929 | LRP5 | c.3028-3C>G (n.3028-3C>G) c.*1634-3C>G (n.*1634-3C>G) c.1285-3C>G (n.1285-3C>G) c.3055-3C>G (n.3055-3C>G) n.3070-3C>G c.568-3C>G (n.568-3C>G) | ClinVar |
| 11 | g.68423486C>T | CA6149835 | LRP5 | c.3028-3C>T (n.3028-3C>T) c.*1634-3C>T (n.*1634-3C>T) c.1285-3C>T (n.1285-3C>T) c.3055-3C>T (n.3055-3C>T) n.3070-3C>T c.568-3C>T (n.568-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68423492_68423539del | CA2614714301 | LRP5 | c.3031_3078del c.*1637_*1684del c.1288_1335del c.3058_3105del n.3073_3120del c.571_618del | gnomAD v4 |
| 11 | g.68423487A>C | CA381620549 | LRP5 | c.3028-2A>C (n.3028-2A>C) c.*1634-2A>C (n.*1634-2A>C) c.1285-2A>C (n.1285-2A>C) c.3055-2A>C (n.3055-2A>C) n.3070-2A>C c.568-2A>C (n.568-2A>C) | |
| 11 | g.68423487A>G | CA381620551 | LRP5 | c.3028-2A>G (n.3028-2A>G) c.*1634-2A>G (n.*1634-2A>G) c.1285-2A>G (n.1285-2A>G) c.3055-2A>G (n.3055-2A>G) n.3070-2A>G c.568-2A>G (n.568-2A>G) | |
| 11 | g.68423487A>T | CA381620552 | LRP5 | c.3028-2A>T (n.3028-2A>T) c.*1634-2A>T (n.*1634-2A>T) c.1285-2A>T (n.1285-2A>T) c.3055-2A>T (n.3055-2A>T) n.3070-2A>T c.568-2A>T (n.568-2A>T) | |
| 11 | g.68423488G>A | CA381620553 | LRP5 | c.3028-1G>A (n.3028-1G>A) c.*1634-1G>A (n.*1634-1G>A) c.1285-1G>A (n.1285-1G>A) c.3055-1G>A (n.3055-1G>A) n.3070-1G>A c.568-1G>A (n.568-1G>A) | ClinVar |
| 11 | g.68423488G>C | CA381620554 | LRP5 | c.3028-1G>C (n.3028-1G>C) c.*1634-1G>C (n.*1634-1G>C) c.1285-1G>C (n.1285-1G>C) c.3055-1G>C (n.3055-1G>C) n.3070-1G>C c.568-1G>C (n.568-1G>C) | |
| 11 | g.68423488G>T | CA381620555 | LRP5 | c.3028-1G>T (n.3028-1G>T) c.*1634-1G>T (n.*1634-1G>T) c.1285-1G>T (n.1285-1G>T) c.3055-1G>T (n.3055-1G>T) n.3070-1G>T c.568-1G>T (n.568-1G>T) | |
| 11 | g.68423489C>A | CA381620556 | LRP5 | c.3028C>A (p.Pro1010Thr) c.*1634C>A (n.*1634C>A) c.1285C>A (p.Pro429Thr) c.3055C>A (p.Pro1019Thr) n.3070C>A c.568C>A (p.Pro190Thr) | |
| 11 | g.68423489C= | CA1980607929 | LRP5 | c.3028C= (p.Pro1010=) c.*1634C= (n.*1634C=) c.1285C= (p.Pro429=) c.3055C= (p.Pro1019=) n.3070C= c.568C= (p.Pro190=) | |
| 11 | g.68423489C>G | CA381620557 | LRP5 | c.3028C>G (p.Pro1010Ala) c.*1634C>G (n.*1634C>G) c.1285C>G (p.Pro429Ala) c.3055C>G (p.Pro1019Ala) n.3070C>G c.568C>G (p.Pro190Ala) | |
| 11 | g.68423489C>T | CA6149836 | LRP5 | c.3028C>T (p.Pro1010Ser) c.*1634C>T (n.*1634C>T) c.1285C>T (p.Pro429Ser) c.3055C>T (p.Pro1019Ser) n.3070C>T c.568C>T (p.Pro190Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68423490C>A | CA381620560 | LRP5 | c.3029C>A (p.Pro1010His) c.*1635C>A (n.*1635C>A) c.1286C>A (p.Pro429His) c.3056C>A (p.Pro1019His) n.3071C>A c.569C>A (p.Pro190His) | gnomAD v4 |
| 11 | g.68423490C>G | CA381620558 | LRP5 | c.3029C>G (p.Pro1010Arg) c.*1635C>G (n.*1635C>G) c.1286C>G (p.Pro429Arg) c.3056C>G (p.Pro1019Arg) n.3071C>G c.569C>G (p.Pro190Arg) | |
| 11 | g.68423490C>T | CA381620559 | LRP5 | c.3029C>T (p.Pro1010Leu) c.*1635C>T (n.*1635C>T) c.1286C>T (p.Pro429Leu) c.3056C>T (p.Pro1019Leu) n.3071C>T c.569C>T (p.Pro190Leu) | gnomAD v4 |
| 11 | g.68423491C>A | CA475463646 | LRP5 | c.3030C>A (p.Pro1010=) c.*1636C>A (n.*1636C>A) c.1287C>A (p.Pro429=) c.3057C>A (p.Pro1019=) n.3072C>A c.570C>A (p.Pro190=) | |
| 11 | g.68423491C= | CA1980607939 | LRP5 | c.3030C= (p.Pro1010=) c.*1636C= (n.*1636C=) c.1287C= (p.Pro429=) c.3057C= (p.Pro1019=) n.3072C= c.570C= (p.Pro190=) | |
| 11 | g.68423491C>G | CA475463648 | LRP5 | c.3030C>G (p.Pro1010=) c.*1636C>G (n.*1636C>G) c.1287C>G (p.Pro429=) c.3057C>G (p.Pro1019=) n.3072C>G c.570C>G (p.Pro190=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68423491C>T | CA475463650 | LRP5 | c.3030C>T (p.Pro1010=) c.*1636C>T (n.*1636C>T) c.1287C>T (p.Pro429=) c.3057C>T (p.Pro1019=) n.3072C>T c.570C>T (p.Pro190=) | |
| 11 | g.68423492T>A | CA381620561 | LRP5 | c.3031T>A (p.Phe1011Ile) c.*1637T>A (n.*1637T>A) c.1288T>A (p.Phe430Ile) c.3058T>A (p.Phe1020Ile) n.3073T>A c.571T>A (p.Phe191Ile) | |
| 11 | g.68423492T>C | CA381620562 | LRP5 | c.3031T>C (p.Phe1011Leu) c.*1637T>C (n.*1637T>C) c.1288T>C (p.Phe430Leu) c.3058T>C (p.Phe1020Leu) n.3073T>C c.571T>C (p.Phe191Leu) | |
| 11 | g.68423492T>G | CA381620563 | LRP5 | c.3031T>G (p.Phe1011Val) c.*1637T>G (n.*1637T>G) c.1288T>G (p.Phe430Val) c.3058T>G (p.Phe1020Val) n.3073T>G c.571T>G (p.Phe191Val) | |
| 11 | g.68423493T>A | CA381620564 | LRP5 | c.3032T>A (p.Phe1011Tyr) c.*1638T>A (n.*1638T>A) c.1289T>A (p.Phe430Tyr) c.3059T>A (p.Phe1020Tyr) n.3074T>A c.572T>A (p.Phe191Tyr) | |
| 11 | g.68423493T>C | CA381620565 | LRP5 | c.3032T>C (p.Phe1011Ser) c.*1638T>C (n.*1638T>C) c.1289T>C (p.Phe430Ser) c.3059T>C (p.Phe1020Ser) n.3074T>C c.572T>C (p.Phe191Ser) | |
| 11 | g.68423493T>G | CA381620566 | LRP5 | c.3032T>G (p.Phe1011Cys) c.*1638T>G (n.*1638T>G) c.1289T>G (p.Phe430Cys) c.3059T>G (p.Phe1020Cys) n.3074T>G c.572T>G (p.Phe191Cys) | |
| 11 | g.68423494T>A | CA381620567 | LRP5 | c.3033T>A (p.Phe1011Leu) c.*1639T>A (n.*1639T>A) c.1290T>A (p.Phe430Leu) c.3060T>A (p.Phe1020Leu) n.3075T>A c.573T>A (p.Phe191Leu) | |
| 11 | g.68423494T>C | CA475463653 | LRP5 | c.3033T>C (p.Phe1011=) c.*1639T>C (n.*1639T>C) c.1290T>C (p.Phe430=) c.3060T>C (p.Phe1020=) n.3075T>C c.573T>C (p.Phe191=) | gnomAD v4 |
| 11 | g.68423494T>G | CA381620568 | LRP5 | c.3033T>G (p.Phe1011Leu) c.*1639T>G (n.*1639T>G) c.1290T>G (p.Phe430Leu) c.3060T>G (p.Phe1020Leu) n.3075T>G c.573T>G (p.Phe191Leu) | |
| 11 | g.68423495G>A | CA381620569 | LRP5 | c.3034G>A (p.Val1012Ile) c.*1640G>A (n.*1640G>A) c.1291G>A (p.Val431Ile) c.3061G>A (p.Val1021Ile) n.3076G>A c.574G>A (p.Val192Ile) | gnomAD v4 |
| 11 | g.68423495G>C | CA381620570 | LRP5 | c.3034G>C (p.Val1012Leu) c.*1640G>C (n.*1640G>C) c.1291G>C (p.Val431Leu) c.3061G>C (p.Val1021Leu) n.3076G>C c.574G>C (p.Val192Leu) | |
| 11 | g.68423495G>T | CA381620571 | LRP5 | c.3034G>T (p.Val1012Phe) c.*1640G>T (n.*1640G>T) c.1291G>T (p.Val431Phe) c.3061G>T (p.Val1021Phe) n.3076G>T c.574G>T (p.Val192Phe) | |
| 11 | g.68423496T>A | CA381620574 | LRP5 | c.3035T>A (p.Val1012Asp) c.*1641T>A (n.*1641T>A) c.1292T>A (p.Val431Asp) c.3062T>A (p.Val1021Asp) n.3077T>A c.575T>A (p.Val192Asp) | |
| 11 | g.68423496T>C | CA381620573 | LRP5 | c.3035T>C (p.Val1012Ala) c.*1641T>C (n.*1641T>C) c.1292T>C (p.Val431Ala) c.3062T>C (p.Val1021Ala) n.3077T>C c.575T>C (p.Val192Ala) | |
| 11 | g.68423496T>G | CA381620572 | LRP5 | c.3035T>G (p.Val1012Gly) c.*1641T>G (n.*1641T>G) c.1292T>G (p.Val431Gly) c.3062T>G (p.Val1021Gly) n.3077T>G c.575T>G (p.Val192Gly) | |
| 11 | g.68423497T>A | CA475463657 | LRP5 | c.3036T>A (p.Val1012=) c.*1642T>A (n.*1642T>A) c.1293T>A (p.Val431=) c.3063T>A (p.Val1021=) n.3078T>A c.576T>A (p.Val192=) | |
| 11 | g.68423497T>C | CA475463658 | LRP5 | c.3036T>C (p.Val1012=) c.*1642T>C (n.*1642T>C) c.1293T>C (p.Val431=) c.3063T>C (p.Val1021=) n.3078T>C c.576T>C (p.Val192=) | |
| 11 | g.68423497T>G | CA475463659 | LRP5 | c.3036T>G (p.Val1012=) c.*1642T>G (n.*1642T>G) c.1293T>G (p.Val431=) c.3063T>G (p.Val1021=) n.3078T>G c.576T>G (p.Val192=) | |
| 11 | g.68423498T>A | CA381620575 | LRP5 | c.3037T>A (p.Leu1013Met) c.*1643T>A (n.*1643T>A) c.1294T>A (p.Leu432Met) c.3064T>A (p.Leu1022Met) n.3079T>A c.577T>A (p.Leu193Met) | |
| 11 | g.68423498T>C | CA475463660 | LRP5 | c.3037T>C (p.Leu1013=) c.*1643T>C (n.*1643T>C) c.1294T>C (p.Leu432=) c.3064T>C (p.Leu1022=) n.3079T>C c.577T>C (p.Leu193=) | |
| 11 | g.68423498T>G | CA381620576 | LRP5 | c.3037T>G (p.Leu1013Val) c.*1643T>G (n.*1643T>G) c.1294T>G (p.Leu432Val) c.3064T>G (p.Leu1022Val) n.3079T>G c.577T>G (p.Leu193Val) | |
| 11 | g.68423499T>A | CA381620577 | LRP5 | c.3038T>A (p.Leu1013Ter) c.*1644T>A (n.*1644T>A) c.1295T>A (p.Leu432Ter) c.3065T>A (p.Leu1022Ter) n.3080T>A c.578T>A (p.Leu193Ter) | |
| 11 | g.68423499T>C | CA381620578 | LRP5 | c.3038T>C (p.Leu1013Ser) c.*1644T>C (n.*1644T>C) c.1295T>C (p.Leu432Ser) c.3065T>C (p.Leu1022Ser) n.3080T>C c.578T>C (p.Leu193Ser) | |
| 11 | g.68423499T>G | CA381620579 | LRP5 | c.3038T>G (p.Leu1013Trp) c.*1644T>G (n.*1644T>G) c.1295T>G (p.Leu432Trp) c.3065T>G (p.Leu1022Trp) n.3080T>G c.578T>G (p.Leu193Trp) | |
| 11 | g.68423500G>A | CA475463662 | LRP5 | c.3039G>A (p.Leu1013=) c.*1645G>A (n.*1645G>A) c.1296G>A (p.Leu432=) c.3066G>A (p.Leu1022=) n.3081G>A c.579G>A (p.Leu193=) | ClinVar dbSNP |
| 11 | g.68423500G>C | CA381620580 | LRP5 | c.3039G>C (p.Leu1013Phe) c.*1645G>C (n.*1645G>C) c.1296G>C (p.Leu432Phe) c.3066G>C (p.Leu1022Phe) n.3081G>C c.579G>C (p.Leu193Phe) | gnomAD v4 |
| 11 | g.68423500G>T | CA381620581 | LRP5 | c.3039G>T (p.Leu1013Phe) c.*1645G>T (n.*1645G>T) c.1296G>T (p.Leu432Phe) c.3066G>T (p.Leu1022Phe) n.3081G>T c.579G>T (p.Leu193Phe) | |
| 11 | g.68423501A= | CA1980607941 | LRP5 | c.3040A= (p.Thr1014=) c.*1646A= (n.*1646A=) c.1297A= (p.Thr433=) c.3067A= (p.Thr1023=) n.3082A= c.580A= (p.Thr194=) | |
| 11 | g.68423501A>C | CA381620582 | LRP5 | c.3040A>C (p.Thr1014Pro) c.*1646A>C (n.*1646A>C) c.1297A>C (p.Thr433Pro) c.3067A>C (p.Thr1023Pro) n.3082A>C c.580A>C (p.Thr194Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68423501A>G | CA381620583 | LRP5 | c.3040A>G (p.Thr1014Ala) c.*1646A>G (n.*1646A>G) c.1297A>G (p.Thr433Ala) c.3067A>G (p.Thr1023Ala) n.3082A>G c.580A>G (p.Thr194Ala) | |
| 11 | g.68423501A>T | CA381620584 | LRP5 | c.3040A>T (p.Thr1014Ser) c.*1646A>T (n.*1646A>T) c.1297A>T (p.Thr433Ser) c.3067A>T (p.Thr1023Ser) n.3082A>T c.580A>T (p.Thr194Ser) | |
| 11 | g.68423502C>A | CA381620585 | LRP5 | c.3041C>A (p.Thr1014Asn) c.*1647C>A (n.*1647C>A) c.1298C>A (p.Thr433Asn) c.3068C>A (p.Thr1023Asn) n.3083C>A c.581C>A (p.Thr194Asn) | |
| 11 | g.68423502C= | CA1980607943 | LRP5 | c.3041C= (p.Thr1014=) c.*1647C= (n.*1647C=) c.1298C= (p.Thr433=) c.3068C= (p.Thr1023=) n.3083C= c.581C= (p.Thr194=) | |
| 11 | g.68423502C>G | CA381620586 | LRP5 | c.3041C>G (p.Thr1014Ser) c.*1647C>G (n.*1647C>G) c.1298C>G (p.Thr433Ser) c.3068C>G (p.Thr1023Ser) n.3083C>G c.581C>G (p.Thr194Ser) | |
| 11 | g.68423502C>T | CA381620587 | LRP5 | c.3041C>T (p.Thr1014Ile) c.*1647C>T (n.*1647C>T) c.1298C>T (p.Thr433Ile) c.3068C>T (p.Thr1023Ile) n.3083C>T c.581C>T (p.Thr194Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68423503C>A | CA475463667 | LRP5 | c.3042C>A (p.Thr1014=) c.*1648C>A (n.*1648C>A) c.1299C>A (p.Thr433=) c.3069C>A (p.Thr1023=) n.3084C>A c.582C>A (p.Thr194=) | |
| 11 | g.68423503C= | CA1980607945 | LRP5 | c.3042C= (p.Thr1014=) c.*1648C= (n.*1648C=) c.1299C= (p.Thr433=) c.3069C= (p.Thr1023=) n.3084C= c.582C= (p.Thr194=) | |
| 11 | g.68423503C>G | CA475463666 | LRP5 | c.3042C>G (p.Thr1014=) c.*1648C>G (n.*1648C>G) c.1299C>G (p.Thr433=) c.3069C>G (p.Thr1023=) n.3084C>G c.582C>G (p.Thr194=) | |
| 11 | g.68423503C>T | CA6149837 | LRP5 | c.3042C>T (p.Thr1014=) c.*1648C>T (n.*1648C>T) c.1299C>T (p.Thr433=) c.3069C>T (p.Thr1023=) n.3084C>T c.582C>T (p.Thr194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68423504T>A | CA381620590 | LRP5 | c.3043T>A (p.Ser1015Thr) c.*1649T>A (n.*1649T>A) c.1300T>A (p.Ser434Thr) c.3070T>A (p.Ser1024Thr) n.3085T>A c.583T>A (p.Ser195Thr) | |
| 11 | g.68423504T>C | CA381620588 | LRP5 | c.3043T>C (p.Ser1015Pro) c.*1649T>C (n.*1649T>C) c.1300T>C (p.Ser434Pro) c.3070T>C (p.Ser1024Pro) n.3085T>C c.583T>C (p.Ser195Pro) | |
| 11 | g.68423504T>G | CA381620589 | LRP5 | c.3043T>G (p.Ser1015Ala) c.*1649T>G (n.*1649T>G) c.1300T>G (p.Ser434Ala) c.3070T>G (p.Ser1024Ala) n.3085T>G c.583T>G (p.Ser195Ala) | |
| 11 | g.68423505C>A | CA381620591 | LRP5 | c.3044C>A (p.Ser1015Tyr) c.*1650C>A (n.*1650C>A) c.1301C>A (p.Ser434Tyr) c.3071C>A (p.Ser1024Tyr) n.3086C>A c.584C>A (p.Ser195Tyr) | |
| 11 | g.68423505C= | CA1980607947 | LRP5 | c.3044C= (p.Ser1015=) c.*1650C= (n.*1650C=) c.1301C= (p.Ser434=) c.3071C= (p.Ser1024=) n.3086C= c.584C= (p.Ser195=) | |
| 11 | g.68423505C>G | CA381620592 | LRP5 | c.3044C>G (p.Ser1015Cys) c.*1650C>G (n.*1650C>G) c.1301C>G (p.Ser434Cys) c.3071C>G (p.Ser1024Cys) n.3086C>G c.584C>G (p.Ser195Cys) | dbSNP |
| 11 | g.68423505C>T | CA381620593 | LRP5 | c.3044C>T (p.Ser1015Phe) c.*1650C>T (n.*1650C>T) c.1301C>T (p.Ser434Phe) c.3071C>T (p.Ser1024Phe) n.3086C>T c.584C>T (p.Ser195Phe) | dbSNP gnomAD v4 |
| 11 | g.68423506T>A | CA475463669 | LRP5 | c.3045T>A (p.Ser1015=) c.*1651T>A (n.*1651T>A) c.1302T>A (p.Ser434=) c.3072T>A (p.Ser1024=) n.3087T>A c.585T>A (p.Ser195=) | gnomAD v4 |
| 11 | g.68423506T>C | CA475463673 | LRP5 | c.3045T>C (p.Ser1015=) c.*1651T>C (n.*1651T>C) c.1302T>C (p.Ser434=) c.3072T>C (p.Ser1024=) n.3087T>C c.585T>C (p.Ser195=) | |
| 11 | g.68423506T>G | CA475463671 | LRP5 | c.3045T>G (p.Ser1015=) c.*1651T>G (n.*1651T>G) c.1302T>G (p.Ser434=) c.3072T>G (p.Ser1024=) n.3087T>G c.585T>G (p.Ser195=) | |
| 11 | g.68423507C>A | CA381620594 | LRP5 | c.3046C>A (p.Leu1016Met) c.*1652C>A (n.*1652C>A) c.1303C>A (p.Leu435Met) c.3073C>A (p.Leu1025Met) n.3088C>A c.586C>A (p.Leu196Met) | |
| 11 | g.68423507C>G | CA381620595 | LRP5 | c.3046C>G (p.Leu1016Val) c.*1652C>G (n.*1652C>G) c.1303C>G (p.Leu435Val) c.3073C>G (p.Leu1025Val) n.3088C>G c.586C>G (p.Leu196Val) | ClinVar gnomAD v4 |
| 11 | g.68423507C>T | CA475463675 | LRP5 | c.3046C>T (p.Leu1016=) c.*1652C>T (n.*1652C>T) c.1303C>T (p.Leu435=) c.3073C>T (p.Leu1025=) n.3088C>T c.586C>T (p.Leu196=) | |
| 11 | g.68423508T>A | CA381620596 | LRP5 | c.3047T>A (p.Leu1016Gln) c.*1653T>A (n.*1653T>A) c.1304T>A (p.Leu435Gln) c.3074T>A (p.Leu1025Gln) n.3089T>A c.587T>A (p.Leu196Gln) | |
| 11 | g.68423508T>C | CA224278015 | LRP5 | c.3047T>C (p.Leu1016Pro) c.*1653T>C (n.*1653T>C) c.1304T>C (p.Leu435Pro) c.3074T>C (p.Leu1025Pro) n.3089T>C c.587T>C (p.Leu196Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68423508T>G | CA381620597 | LRP5 | c.3047T>G (p.Leu1016Arg) c.*1653T>G (n.*1653T>G) c.1304T>G (p.Leu435Arg) c.3074T>G (p.Leu1025Arg) n.3089T>G c.587T>G (p.Leu196Arg) | |
| 11 | g.68423508T= | CA1980607952 | LRP5 | c.3047T= (p.Leu1016=) c.*1653T= (n.*1653T=) c.1304T= (p.Leu435=) c.3074T= (p.Leu1025=) n.3089T= c.587T= (p.Leu196=) | |
| 11 | g.68423508_68423509del | CA2614714352 | LRP5 | c.3047_3048del (p.Leu1016GlnfsTer?) c.*1653_*1654del (n.*1653_*1654del) c.1304_1305del (p.Leu435GlnfsTer?) c.3074_3075del (p.Leu1025GlnfsTer?) n.3089_3090del c.587_588del (p.Leu196GlnfsTer?) | gnomAD v4 |
| 11 | g.68423509G>A | CA475463676 | LRP5 | c.3048G>A (p.Leu1016=) c.*1654G>A (n.*1654G>A) c.1305G>A (p.Leu435=) c.3075G>A (p.Leu1025=) n.3090G>A c.588G>A (p.Leu196=) | |
| 11 | g.68423509G>C | CA475463678 | LRP5 | c.3048G>C (p.Leu1016=) c.*1654G>C (n.*1654G>C) c.1305G>C (p.Leu435=) c.3075G>C (p.Leu1025=) n.3090G>C c.588G>C (p.Leu196=) | |
| 11 | g.68423509G>T | CA475463680 | LRP5 | c.3048G>T (p.Leu1016=) c.*1654G>T (n.*1654G>T) c.1305G>T (p.Leu435=) c.3075G>T (p.Leu1025=) n.3090G>T c.588G>T (p.Leu196=) | |
| 11 | g.68423510A>C | CA381620598 | LRP5 | c.3049A>C (p.Ser1017Arg) c.*1655A>C (n.*1655A>C) c.1306A>C (p.Ser436Arg) c.3076A>C (p.Ser1026Arg) n.3091A>C c.589A>C (p.Ser197Arg) | |
| 11 | g.68423510A>G | CA381620599 | LRP5 | c.3049A>G (p.Ser1017Gly) c.*1655A>G (n.*1655A>G) c.1306A>G (p.Ser436Gly) c.3076A>G (p.Ser1026Gly) n.3091A>G c.589A>G (p.Ser197Gly) | |
| 11 | g.68423510A>T | CA381620600 | LRP5 | c.3049A>T (p.Ser1017Cys) c.*1655A>T (n.*1655A>T) c.1306A>T (p.Ser436Cys) c.3076A>T (p.Ser1026Cys) n.3091A>T c.589A>T (p.Ser197Cys) | |
| 11 | g.68423511G>A | CA224278017 | LRP5 | c.3050G>A (p.Ser1017Asn) c.*1656G>A (n.*1656G>A) c.1307G>A (p.Ser436Asn) c.3077G>A (p.Ser1026Asn) n.3092G>A c.590G>A (p.Ser197Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68423511G>C | CA381620602 | LRP5 | c.3050G>C (p.Ser1017Thr) c.*1656G>C (n.*1656G>C) c.1307G>C (p.Ser436Thr) c.3077G>C (p.Ser1026Thr) n.3092G>C c.590G>C (p.Ser197Thr) | |
| 11 | g.68423511G= | CA1980607953 | LRP5 | c.3050G= (p.Ser1017=) c.*1656G= (n.*1656G=) c.1307G= (p.Ser436=) c.3077G= (p.Ser1026=) n.3092G= c.590G= (p.Ser197=) | |
| 11 | g.68423511G>T | CA381620601 | LRP5 | c.3050G>T (p.Ser1017Ile) c.*1656G>T (n.*1656G>T) c.1307G>T (p.Ser436Ile) c.3077G>T (p.Ser1026Ile) n.3092G>T c.590G>T (p.Ser197Ile) | |
| 11 | g.68423512C>A | CA381620603 | LRP5 | c.3051C>A (p.Ser1017Arg) c.*1657C>A (n.*1657C>A) c.1308C>A (p.Ser436Arg) c.3078C>A (p.Ser1026Arg) n.3093C>A c.591C>A (p.Ser197Arg) | |
| 11 | g.68423512C>G | CA381620604 | LRP5 | c.3051C>G (p.Ser1017Arg) c.*1657C>G (n.*1657C>G) c.1308C>G (p.Ser436Arg) c.3078C>G (p.Ser1026Arg) n.3093C>G c.591C>G (p.Ser197Arg) | |
| 11 | g.68423512C>T | CA475463683 | LRP5 | c.3051C>T (p.Ser1017=) c.*1657C>T (n.*1657C>T) c.1308C>T (p.Ser436=) c.3078C>T (p.Ser1026=) n.3093C>T c.591C>T (p.Ser197=) | |
| 11 | g.68423513C>A | CA381620605 | LRP5 | c.3052C>A (p.Gln1018Lys) c.*1658C>A (n.*1658C>A) c.1309C>A (p.Gln437Lys) c.3079C>A (p.Gln1027Lys) n.3094C>A c.592C>A (p.Gln198Lys) | |
| 11 | g.68423513C>G | CA381620606 | LRP5 | c.3052C>G (p.Gln1018Glu) c.*1658C>G (n.*1658C>G) c.1309C>G (p.Gln437Glu) c.3079C>G (p.Gln1027Glu) n.3094C>G c.592C>G (p.Gln198Glu) | |
| 11 | g.68423513C>T | CA381620607 | LRP5 | c.3052C>T (p.Gln1018Ter) c.*1658C>T (n.*1658C>T) c.1309C>T (p.Gln437Ter) c.3079C>T (p.Gln1027Ter) n.3094C>T c.592C>T (p.Gln198Ter) | |
| 11 | g.68423514A= | CA1980607956 | LRP5 | c.3053A= (p.Gln1018=) c.*1659A= (n.*1659A=) c.1310A= (p.Gln437=) c.3080A= (p.Gln1027=) n.3095A= c.593A= (p.Gln198=) | |
| 11 | g.68423514A>C | CA381620608 | LRP5 | c.3053A>C (p.Gln1018Pro) c.*1659A>C (n.*1659A>C) c.1310A>C (p.Gln437Pro) c.3080A>C (p.Gln1027Pro) n.3095A>C c.593A>C (p.Gln198Pro) | |
| 11 | g.68423514A>G | CA224278019 | LRP5 | c.3053A>G (p.Gln1018Arg) c.*1659A>G (n.*1659A>G) c.1310A>G (p.Gln437Arg) c.3080A>G (p.Gln1027Arg) n.3095A>G c.593A>G (p.Gln198Arg) | dbSNP gnomAD v4 |
| 11 | g.68423514A>T | CA381620609 | LRP5 | c.3053A>T (p.Gln1018Leu) c.*1659A>T (n.*1659A>T) c.1310A>T (p.Gln437Leu) c.3080A>T (p.Gln1027Leu) n.3095A>T c.593A>T (p.Gln198Leu) | |
| 11 | g.68423515A>C | CA381620610 | LRP5 | c.3054A>C (p.Gln1018His) c.*1660A>C (n.*1660A>C) c.1311A>C (p.Gln437His) c.3081A>C (p.Gln1027His) n.3096A>C c.594A>C (p.Gln198His) | |
| 11 | g.68423515A>G | CA475463686 | LRP5 | c.3054A>G (p.Gln1018=) c.*1660A>G (n.*1660A>G) c.1311A>G (p.Gln437=) c.3081A>G (p.Gln1027=) n.3096A>G c.594A>G (p.Gln198=) | |
| 11 | g.68423515A>T | CA381620611 | LRP5 | c.3054A>T (p.Gln1018His) c.*1660A>T (n.*1660A>T) c.1311A>T (p.Gln437His) c.3081A>T (p.Gln1027His) n.3096A>T c.594A>T (p.Gln198His) | |
| 11 | g.68423516G>A | CA381620612 | LRP5 | c.3055G>A (p.Gly1019Ser) c.*1661G>A (n.*1661G>A) c.1312G>A (p.Gly438Ser) c.3082G>A (p.Gly1028Ser) n.3097G>A c.595G>A (p.Gly199Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68423516G>C | CA381620613 | LRP5 | c.3055G>C (p.Gly1019Arg) c.*1661G>C (n.*1661G>C) c.1312G>C (p.Gly438Arg) c.3082G>C (p.Gly1028Arg) n.3097G>C c.595G>C (p.Gly199Arg) | gnomAD v4 |
| 11 | g.68423516G= | CA1980607959 | LRP5 | c.3055G= (p.Gly1019=) c.*1661G= (n.*1661G=) c.1312G= (p.Gly438=) c.3082G= (p.Gly1028=) n.3097G= c.595G= (p.Gly199=) | |
| 11 | g.68423516G>T | CA381620614 | LRP5 | c.3055G>T (p.Gly1019Cys) c.*1661G>T (n.*1661G>T) c.1312G>T (p.Gly438Cys) c.3082G>T (p.Gly1028Cys) n.3097G>T c.595G>T (p.Gly199Cys) | |
| 11 | g.68423517G>A | CA381620617 | LRP5 | c.3056G>A (p.Gly1019Asp) c.*1662G>A (n.*1662G>A) c.1313G>A (p.Gly438Asp) c.3083G>A (p.Gly1028Asp) n.3098G>A c.596G>A (p.Gly199Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68423517G>C | CA381620615 | LRP5 | c.3056G>C (p.Gly1019Ala) c.*1662G>C (n.*1662G>C) c.1313G>C (p.Gly438Ala) c.3083G>C (p.Gly1028Ala) n.3098G>C c.596G>C (p.Gly199Ala) | |
| 11 | g.68423517G= | CA1980607963 | LRP5 | c.3056G= (p.Gly1019=) c.*1662G= (n.*1662G=) c.1313G= (p.Gly438=) c.3083G= (p.Gly1028=) n.3098G= c.596G= (p.Gly199=) | |
| 11 | g.68423517G>T | CA381620616 | LRP5 | c.3056G>T (p.Gly1019Val) c.*1662G>T (n.*1662G>T) c.1313G>T (p.Gly438Val) c.3083G>T (p.Gly1028Val) n.3098G>T c.596G>T (p.Gly199Val) | |
| 11 | g.68423518C>A | CA475463693 | LRP5 | c.3057C>A (p.Gly1019=) c.*1663C>A (n.*1663C>A) c.1314C>A (p.Gly438=) c.3084C>A (p.Gly1028=) n.3099C>A c.597C>A (p.Gly199=) | |
| 11 | g.68423518C= | CA1980607968 | LRP5 | c.3057C= (p.Gly1019=) c.*1663C= (n.*1663C=) c.1314C= (p.Gly438=) c.3084C= (p.Gly1028=) n.3099C= c.597C= (p.Gly199=) | |
| 11 | g.68423518C>G | CA475463694 | LRP5 | c.3057C>G (p.Gly1019=) c.*1663C>G (n.*1663C>G) c.1314C>G (p.Gly438=) c.3084C>G (p.Gly1028=) n.3099C>G c.597C>G (p.Gly199=) | COSMIC |
| 11 | g.68423518C>T | CA6149838 | LRP5 | c.3057C>T (p.Gly1019=) c.*1663C>T (n.*1663C>T) c.1314C>T (p.Gly438=) c.3084C>T (p.Gly1028=) n.3099C>T c.597C>T (p.Gly199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68423519C>A | CA381620618 | LRP5 | c.3058C>A (p.Gln1020Lys) c.*1664C>A (n.*1664C>A) c.1315C>A (p.Gln439Lys) c.3085C>A (p.Gln1029Lys) n.3100C>A c.598C>A (p.Gln200Lys) | |
| 11 | g.68423519C>G | CA381620619 | LRP5 | c.3058C>G (p.Gln1020Glu) c.*1664C>G (n.*1664C>G) c.1315C>G (p.Gln439Glu) c.3085C>G (p.Gln1029Glu) n.3100C>G c.598C>G (p.Gln200Glu) | |
| 11 | g.68423519C>T | CA381620620 | LRP5 | c.3058C>T (p.Gln1020Ter) c.*1664C>T (n.*1664C>T) c.1315C>T (p.Gln439Ter) c.3085C>T (p.Gln1029Ter) n.3100C>T c.598C>T (p.Gln200Ter) | |
| 11 | g.68423520A>C | CA381620621 | LRP5 | c.3059A>C (p.Gln1020Pro) c.*1665A>C (n.*1665A>C) c.1316A>C (p.Gln439Pro) c.3086A>C (p.Gln1029Pro) n.3101A>C c.599A>C (p.Gln200Pro) | |
| 11 | g.68423520A>G | CA381620622 | LRP5 | c.3059A>G (p.Gln1020Arg) c.*1665A>G (n.*1665A>G) c.1316A>G (p.Gln439Arg) c.3086A>G (p.Gln1029Arg) n.3101A>G c.599A>G (p.Gln200Arg) | |
| 11 | g.68423520A>T | CA381620623 | LRP5 | c.3059A>T (p.Gln1020Leu) c.*1665A>T (n.*1665A>T) c.1316A>T (p.Gln439Leu) c.3086A>T (p.Gln1029Leu) n.3101A>T c.599A>T (p.Gln200Leu) | |
| 11 | g.68423521A>C | CA381620624 | LRP5 | c.3060A>C (p.Gln1020His) c.*1666A>C (n.*1666A>C) c.1317A>C (p.Gln439His) c.3087A>C (p.Gln1029His) n.3102A>C c.600A>C (p.Gln200His) | |
| 11 | g.68423521A>G | CA475463696 | LRP5 | c.3060A>G (p.Gln1020=) c.*1666A>G (n.*1666A>G) c.1317A>G (p.Gln439=) c.3087A>G (p.Gln1029=) n.3102A>G c.600A>G (p.Gln200=) | gnomAD v4 |
| 11 | g.68423521A>T | CA381620625 | LRP5 | c.3060A>T (p.Gln1020His) c.*1666A>T (n.*1666A>T) c.1317A>T (p.Gln439His) c.3087A>T (p.Gln1029His) n.3102A>T c.600A>T (p.Gln200His) | |
| 11 | g.68423522A>C | CA381620626 | LRP5 | c.3061A>C (p.Asn1021His) c.*1667A>C (n.*1667A>C) c.1318A>C (p.Asn440His) c.3088A>C (p.Asn1030His) n.3103A>C c.601A>C (p.Asn201His) | |
| 11 | g.68423522A>G | CA381620627 | LRP5 | c.3061A>G (p.Asn1021Asp) c.*1667A>G (n.*1667A>G) c.1318A>G (p.Asn440Asp) c.3088A>G (p.Asn1030Asp) n.3103A>G c.601A>G (p.Asn201Asp) | |
| 11 | g.68423522A>T | CA381620628 | LRP5 | c.3061A>T (p.Asn1021Tyr) c.*1667A>T (n.*1667A>T) c.1318A>T (p.Asn440Tyr) c.3088A>T (p.Asn1030Tyr) n.3103A>T c.601A>T (p.Asn201Tyr) | |
| 11 | g.68423523A>C | CA381620630 | LRP5 | c.3062A>C (p.Asn1021Thr) c.*1668A>C (n.*1668A>C) c.1319A>C (p.Asn440Thr) c.3089A>C (p.Asn1030Thr) n.3104A>C c.602A>C (p.Asn201Thr) | |
| 11 | g.68423523A>G | CA381620631 | LRP5 | c.3062A>G (p.Asn1021Ser) c.*1668A>G (n.*1668A>G) c.1319A>G (p.Asn440Ser) c.3089A>G (p.Asn1030Ser) n.3104A>G c.602A>G (p.Asn201Ser) | |
| 11 | g.68423523A>T | CA381620629 | LRP5 | c.3062A>T (p.Asn1021Ile) c.*1668A>T (n.*1668A>T) c.1319A>T (p.Asn440Ile) c.3089A>T (p.Asn1030Ile) n.3104A>T c.602A>T (p.Asn201Ile) | |
| 11 | g.68423524C>A | CA381620633 | LRP5 | c.3063C>A (p.Asn1021Lys) c.*1669C>A (n.*1669C>A) c.1320C>A (p.Asn440Lys) c.3090C>A (p.Asn1030Lys) n.3105C>A c.603C>A (p.Asn201Lys) | |
| 11 | g.68423524C>G | CA381620632 | LRP5 | c.3063C>G (p.Asn1021Lys) c.*1669C>G (n.*1669C>G) c.1320C>G (p.Asn440Lys) c.3090C>G (p.Asn1030Lys) n.3105C>G c.603C>G (p.Asn201Lys) | |
| 11 | g.68423524C>T | CA475463698 | LRP5 | c.3063C>T (p.Asn1021=) c.*1669C>T (n.*1669C>T) c.1320C>T (p.Asn440=) c.3090C>T (p.Asn1030=) n.3105C>T c.603C>T (p.Asn201=) | gnomAD v4 |
| 11 | g.68423525C>A | CA381620636 | LRP5 | c.3064C>A (p.Pro1022Thr) c.*1670C>A (n.*1670C>A) c.1321C>A (p.Pro441Thr) c.3091C>A (p.Pro1031Thr) n.3106C>A c.604C>A (p.Pro202Thr) | |
| 11 | g.68423525C>G | CA381620634 | LRP5 | c.3064C>G (p.Pro1022Ala) c.*1670C>G (n.*1670C>G) c.1321C>G (p.Pro441Ala) c.3091C>G (p.Pro1031Ala) n.3106C>G c.604C>G (p.Pro202Ala) | |
| 11 | g.68423525C>T | CA381620635 | LRP5 | c.3064C>T (p.Pro1022Ser) c.*1670C>T (n.*1670C>T) c.1321C>T (p.Pro441Ser) c.3091C>T (p.Pro1031Ser) n.3106C>T c.604C>T (p.Pro202Ser) | |
| 11 | g.68423526C>A | CA381620637 | LRP5 | c.3065C>A (p.Pro1022Gln) c.*1671C>A (n.*1671C>A) c.1322C>A (p.Pro441Gln) c.3092C>A (p.Pro1031Gln) n.3107C>A c.605C>A (p.Pro202Gln) | |
| 11 | g.68423526C>G | CA381620638 | LRP5 | c.3065C>G (p.Pro1022Arg) c.*1671C>G (n.*1671C>G) c.1322C>G (p.Pro441Arg) c.3092C>G (p.Pro1031Arg) n.3107C>G c.605C>G (p.Pro202Arg) | |
| 11 | g.68423526C>T | CA381620639 | LRP5 | c.3065C>T (p.Pro1022Leu) c.*1671C>T (n.*1671C>T) c.1322C>T (p.Pro441Leu) c.3092C>T (p.Pro1031Leu) n.3107C>T c.605C>T (p.Pro202Leu) | gnomAD v4 |
| 11 | g.68423527A>C | CA475463704 | LRP5 | c.3066A>C (p.Pro1022=) c.*1672A>C (n.*1672A>C) c.1323A>C (p.Pro441=) c.3093A>C (p.Pro1031=) n.3108A>C c.606A>C (p.Pro202=) | |
| 11 | g.68423527A>G | CA475463702 | LRP5 | c.3066A>G (p.Pro1022=) c.*1672A>G (n.*1672A>G) c.1323A>G (p.Pro441=) c.3093A>G (p.Pro1031=) n.3108A>G c.606A>G (p.Pro202=) | |
| 11 | g.68423527A>T | CA475463701 | LRP5 | c.3066A>T (p.Pro1022=) c.*1672A>T (n.*1672A>T) c.1323A>T (p.Pro441=) c.3093A>T (p.Pro1031=) n.3108A>T c.606A>T (p.Pro202=) | |
| 11 | g.68423528G>A | CA381620640 | LRP5 | c.3067G>A (p.Asp1023Asn) c.*1673G>A (n.*1673G>A) c.1324G>A (p.Asp442Asn) c.3094G>A (p.Asp1032Asn) n.3109G>A c.607G>A (p.Asp203Asn) | gnomAD v4 |
| 11 | g.68423528G>C | CA381620641 | LRP5 | c.3067G>C (p.Asp1023His) c.*1673G>C (n.*1673G>C) c.1324G>C (p.Asp442His) c.3094G>C (p.Asp1032His) n.3109G>C c.607G>C (p.Asp203His) | |
| 11 | g.68423528G>T | CA381620642 | LRP5 | c.3067G>T (p.Asp1023Tyr) c.*1673G>T (n.*1673G>T) c.1324G>T (p.Asp442Tyr) c.3094G>T (p.Asp1032Tyr) n.3109G>T c.607G>T (p.Asp203Tyr) | |
| 11 | g.68423529A>C | CA381620643 | LRP5 | c.3068A>C (p.Asp1023Ala) c.*1674A>C (n.*1674A>C) c.1325A>C (p.Asp442Ala) c.3095A>C (p.Asp1032Ala) n.3110A>C c.608A>C (p.Asp203Ala) | |
| 11 | g.68423529A>G | CA381620644 | LRP5 | c.3068A>G (p.Asp1023Gly) c.*1674A>G (n.*1674A>G) c.1325A>G (p.Asp442Gly) c.3095A>G (p.Asp1032Gly) n.3110A>G c.608A>G (p.Asp203Gly) | |
| 11 | g.68423529A>T | CA381620645 | LRP5 | c.3068A>T (p.Asp1023Val) c.*1674A>T (n.*1674A>T) c.1325A>T (p.Asp442Val) c.3095A>T (p.Asp1032Val) n.3110A>T c.608A>T (p.Asp203Val) | |
| 11 | g.68423530del | CA2614714388 | LRP5 | c.3069del (p.Asp1023GlufsTer?) c.*1675del (n.*1675del) c.1326del (p.Asp442GlufsTer?) c.3096del (p.Asp1032GlufsTer?) n.3111del c.609del (p.Asp203GlufsTer?) | gnomAD v4 |
| 11 | g.68423530C>A | CA381620647 | LRP5 | c.3069C>A (p.Asp1023Glu) c.*1675C>A (n.*1675C>A) c.1326C>A (p.Asp442Glu) c.3096C>A (p.Asp1032Glu) n.3111C>A c.609C>A (p.Asp203Glu) | |
| 11 | g.68423530C= | CA1980607973 | LRP5 | c.3069C= (p.Asp1023=) c.*1675C= (n.*1675C=) c.1326C= (p.Asp442=) c.3096C= (p.Asp1032=) n.3111C= c.609C= (p.Asp203=) | |
| 11 | g.68423530C>G | CA381620646 | LRP5 | c.3069C>G (p.Asp1023Glu) c.*1675C>G (n.*1675C>G) c.1326C>G (p.Asp442Glu) c.3096C>G (p.Asp1032Glu) n.3111C>G c.609C>G (p.Asp203Glu) | |
| 11 | g.68423530C>T | CA6149839 | LRP5 | c.3069C>T (p.Asp1023=) c.*1675C>T (n.*1675C>T) c.1326C>T (p.Asp442=) c.3096C>T (p.Asp1032=) n.3111C>T c.609C>T (p.Asp203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68423531A>C | CA475463706 | LRP5 | c.3070A>C (p.Arg1024=) c.*1676A>C (n.*1676A>C) c.1327A>C (p.Arg443=) c.3097A>C (p.Arg1033=) n.3112A>C c.610A>C (p.Arg204=) | |
| 11 | g.68423531A>G | CA381620648 | LRP5 | c.3070A>G (p.Arg1024Gly) c.*1676A>G (n.*1676A>G) c.1327A>G (p.Arg443Gly) c.3097A>G (p.Arg1033Gly) n.3112A>G c.610A>G (p.Arg204Gly) | gnomAD v4 |
| 11 | g.68423531A>T | CA381620649 | LRP5 | c.3070A>T (p.Arg1024Trp) c.*1676A>T (n.*1676A>T) c.1327A>T (p.Arg443Trp) c.3097A>T (p.Arg1033Trp) n.3112A>T c.610A>T (p.Arg204Trp) | |
| 11 | g.68423531_68423532del | CA2695198920 | LRP5 | c.3070_3071del (p.Arg1024AlafsTer?) c.*1676_*1677del (n.*1676_*1677del) c.1327_1328del (p.Arg443AlafsTer?) c.3097_3098del (p.Arg1033AlafsTer?) n.3112_3113del c.610_611del (p.Arg204AlafsTer?) | ClinVar |
| 11 | g.68423532G>A | CA381620650 | LRP5 | c.3071G>A (p.Arg1024Lys) c.*1677G>A (n.*1677G>A) c.1328G>A (p.Arg443Lys) c.3098G>A (p.Arg1033Lys) n.3113G>A c.611G>A (p.Arg204Lys) | |
| 11 | g.68423532G>C | CA381620651 | LRP5 | c.3071G>C (p.Arg1024Thr) c.*1677G>C (n.*1677G>C) c.1328G>C (p.Arg443Thr) c.3098G>C (p.Arg1033Thr) n.3113G>C c.611G>C (p.Arg204Thr) | |
| 11 | g.68423532G>T | CA381620652 | LRP5 | c.3071G>T (p.Arg1024Met) c.*1677G>T (n.*1677G>T) c.1328G>T (p.Arg443Met) c.3098G>T (p.Arg1033Met) n.3113G>T c.611G>T (p.Arg204Met) | |
| 11 | g.68423533G>A | CA475463711 | LRP5 | c.3072G>A (p.Arg1024=) c.*1678G>A (n.*1678G>A) c.1329G>A (p.Arg443=) c.3099G>A (p.Arg1033=) n.3114G>A c.612G>A (p.Arg204=) | |
| 11 | g.68423533G>C | CA381620653 | LRP5 | c.3072G>C (p.Arg1024Ser) c.*1678G>C (n.*1678G>C) c.1329G>C (p.Arg443Ser) c.3099G>C (p.Arg1033Ser) n.3114G>C c.612G>C (p.Arg204Ser) | |
| 11 | g.68423533G= | CA1980607976 | LRP5 | c.3072G= (p.Arg1024=) c.*1678G= (n.*1678G=) c.1329G= (p.Arg443=) c.3099G= (p.Arg1033=) n.3114G= c.612G= (p.Arg204=) | |
| 11 | g.68423533G>T | CA6149840 | LRP5 | c.3072G>T (p.Arg1024Ser) c.*1678G>T (n.*1678G>T) c.1329G>T (p.Arg443Ser) c.3099G>T (p.Arg1033Ser) n.3114G>T c.612G>T (p.Arg204Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68423534C>A | CA381620654 | LRP5 | c.3073C>A (p.Gln1025Lys) c.*1679C>A (n.*1679C>A) c.1330C>A (p.Gln444Lys) c.3100C>A (p.Gln1034Lys) n.3115C>A c.613C>A (p.Gln205Lys) | |
| 11 | g.68423534C>G | CA381620655 | LRP5 | c.3073C>G (p.Gln1025Glu) c.*1679C>G (n.*1679C>G) c.1330C>G (p.Gln444Glu) c.3100C>G (p.Gln1034Glu) n.3115C>G c.613C>G (p.Gln205Glu) | |
| 11 | g.68423534C>T | CA381620656 | LRP5 | c.3073C>T (p.Gln1025Ter) c.*1679C>T (n.*1679C>T) c.1330C>T (p.Gln444Ter) c.3100C>T (p.Gln1034Ter) n.3115C>T c.613C>T (p.Gln205Ter) | |
| 11 | g.68423535A>C | CA381620657 | LRP5 | c.3074A>C (p.Gln1025Pro) c.*1680A>C (n.*1680A>C) c.1331A>C (p.Gln444Pro) c.3101A>C (p.Gln1034Pro) n.3116A>C c.614A>C (p.Gln205Pro) | |
| 11 | g.68423535A>G | CA381620658 | LRP5 | c.3074A>G (p.Gln1025Arg) c.*1680A>G (n.*1680A>G) c.1331A>G (p.Gln444Arg) c.3101A>G (p.Gln1034Arg) n.3116A>G c.614A>G (p.Gln205Arg) | |
| 11 | g.68423535A>T | CA381620659 | LRP5 | c.3074A>T (p.Gln1025Leu) c.*1680A>T (n.*1680A>T) c.1331A>T (p.Gln444Leu) c.3101A>T (p.Gln1034Leu) n.3116A>T c.614A>T (p.Gln205Leu) | COSMIC |
| 11 | g.68423536G>A | CA475463714 | LRP5 | c.3075G>A (p.Gln1025=) c.*1681G>A (n.*1681G>A) c.1332G>A (p.Gln444=) c.3102G>A (p.Gln1034=) n.3117G>A c.615G>A (p.Gln205=) | gnomAD v4 |
| 11 | g.68423536G>C | CA6149841 | LRP5 | c.3075G>C (p.Gln1025His) c.*1681G>C (n.*1681G>C) c.1332G>C (p.Gln444His) c.3102G>C (p.Gln1034His) n.3117G>C c.615G>C (p.Gln205His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68423536G= | CA1980607982 | LRP5 | c.3075G= (p.Gln1025=) c.*1681G= (n.*1681G=) c.1332G= (p.Gln444=) c.3102G= (p.Gln1034=) n.3117G= c.615G= (p.Gln205=) | |
| 11 | g.68423536G>T | CA381620660 | LRP5 | c.3075G>T (p.Gln1025His) c.*1681G>T (n.*1681G>T) c.1332G>T (p.Gln444His) c.3102G>T (p.Gln1034His) n.3117G>T c.615G>T (p.Gln205His) | |
| 11 | g.68423537C>A | CA381620661 | LRP5 | c.3076C>A (p.Pro1026Thr) c.*1682C>A (n.*1682C>A) c.1333C>A (p.Pro445Thr) c.3103C>A (p.Pro1035Thr) n.3118C>A c.616C>A (p.Pro206Thr) | |
| 11 | g.68423537C= | CA1980607986 | LRP5 | c.3076C= (p.Pro1026=) c.*1682C= (n.*1682C=) c.1333C= (p.Pro445=) c.3103C= (p.Pro1035=) n.3118C= c.616C= (p.Pro206=) | |
| 11 | g.68423537C>G | CA381620662 | LRP5 | c.3076C>G (p.Pro1026Ala) c.*1682C>G (n.*1682C>G) c.1333C>G (p.Pro445Ala) c.3103C>G (p.Pro1035Ala) n.3118C>G c.616C>G (p.Pro206Ala) | |
| 11 | g.68423537C>T | CA6149842 | LRP5 | c.3076C>T (p.Pro1026Ser) c.*1682C>T (n.*1682C>T) c.1333C>T (p.Pro445Ser) c.3103C>T (p.Pro1035Ser) n.3118C>T c.616C>T (p.Pro206Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68423538C>A | CA381620663 | LRP5 | c.3077C>A (p.Pro1026His) c.*1683C>A (n.*1683C>A) c.1334C>A (p.Pro445His) c.3104C>A (p.Pro1035His) n.3119C>A c.617C>A (p.Pro206His) | |
| 11 | g.68423538C= | CA1980607991 | LRP5 | c.3077C= (p.Pro1026=) c.*1683C= (n.*1683C=) c.1334C= (p.Pro445=) c.3104C= (p.Pro1035=) n.3119C= c.617C= (p.Pro206=) | |
| 11 | g.68423538C>G | CA381620664 | LRP5 | c.3077C>G (p.Pro1026Arg) c.*1683C>G (n.*1683C>G) c.1334C>G (p.Pro445Arg) c.3104C>G (p.Pro1035Arg) n.3119C>G c.617C>G (p.Pro206Arg) | ClinVar dbSNP |
| 11 | g.68423538C>T | CA6149843 | LRP5 | c.3077C>T (p.Pro1026Leu) c.*1683C>T (n.*1683C>T) c.1334C>T (p.Pro445Leu) c.3104C>T (p.Pro1035Leu) n.3119C>T c.617C>T (p.Pro206Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.68423539C>A | CA475463718 | LRP5 | c.3078C>A (p.Pro1026=) c.*1684C>A (n.*1684C>A) c.1335C>A (p.Pro445=) c.3105C>A (p.Pro1035=) n.3120C>A c.618C>A (p.Pro206=) | |
| 11 | g.68423539C>G | CA475463720 | LRP5 | c.3078C>G (p.Pro1026=) c.*1684C>G (n.*1684C>G) c.1335C>G (p.Pro445=) c.3105C>G (p.Pro1035=) n.3120C>G c.618C>G (p.Pro206=) | |
| 11 | g.68423539C>T | CA475463719 | LRP5 | c.3078C>T (p.Pro1026=) c.*1684C>T (n.*1684C>T) c.1335C>T (p.Pro445=) c.3105C>T (p.Pro1035=) n.3120C>T c.618C>T (p.Pro206=) | |
| 11 | g.68423540C>A | CA381620666 | LRP5 | c.3079C>A (p.His1027Asn) c.*1685C>A (n.*1685C>A) c.1336C>A (p.His446Asn) c.3106C>A (p.His1036Asn) n.3121C>A c.619C>A (p.His207Asn) | |
| 11 | g.68423540C= | CA1980607996 | LRP5 | c.3079C= (p.His1027=) c.*1685C= (n.*1685C=) c.1336C= (p.His446=) c.3106C= (p.His1036=) n.3121C= c.619C= (p.His207=) | |
| 11 | g.68423540C>G | CA381620665 | LRP5 | c.3079C>G (p.His1027Asp) c.*1685C>G (n.*1685C>G) c.1336C>G (p.His446Asp) c.3106C>G (p.His1036Asp) n.3121C>G c.619C>G (p.His207Asp) | |
| 11 | g.68423540C>T | CA6149844 | LRP5 | c.3079C>T (p.His1027Tyr) c.*1685C>T (n.*1685C>T) c.1336C>T (p.His446Tyr) c.3106C>T (p.His1036Tyr) n.3121C>T c.619C>T (p.His207Tyr) | dbSNP ExAC gnomAD v2 |
| 11 | g.68423541A>C | CA381620667 | LRP5 | c.3080A>C (p.His1027Pro) c.*1686A>C (n.*1686A>C) c.1337A>C (p.His446Pro) c.3107A>C (p.His1036Pro) n.3122A>C c.620A>C (p.His207Pro) | |
| 11 | g.68423541A>G | CA381620668 | LRP5 | c.3080A>G (p.His1027Arg) c.*1686A>G (n.*1686A>G) c.1337A>G (p.His446Arg) c.3107A>G (p.His1036Arg) n.3122A>G c.620A>G (p.His207Arg) | |
| 11 | g.68423541A>T | CA381620669 | LRP5 | c.3080A>T (p.His1027Leu) c.*1686A>T (n.*1686A>T) c.1337A>T (p.His446Leu) c.3107A>T (p.His1036Leu) n.3122A>T c.620A>T (p.His207Leu) | |
| 11 | g.68423542C>A | CA381620670 | LRP5 | c.3081C>A (p.His1027Gln) c.*1687C>A (n.*1687C>A) c.1338C>A (p.His446Gln) c.3108C>A (p.His1036Gln) n.3123C>A c.621C>A (p.His207Gln) | |
| 11 | g.68423542C= | CA1980608000 | LRP5 | c.3081C= (p.His1027=) c.*1687C= (n.*1687C=) c.1338C= (p.His446=) c.3108C= (p.His1036=) n.3123C= c.621C= (p.His207=) | |
| 11 | g.68423542C>G | CA381620671 | LRP5 | c.3081C>G (p.His1027Gln) c.*1687C>G (n.*1687C>G) c.1338C>G (p.His446Gln) c.3108C>G (p.His1036Gln) n.3123C>G c.621C>G (p.His207Gln) | |
| 11 | g.68423542C>T | CA475463724 | LRP5 | c.3081C>T (p.His1027=) c.*1687C>T (n.*1687C>T) c.1338C>T (p.His446=) c.3108C>T (p.His1036=) n.3123C>T c.621C>T (p.His207=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68423543G>A | CA381620672 | LRP5 | c.3082G>A (p.Asp1028Asn) c.*1688G>A (n.*1688G>A) c.1339G>A (p.Asp447Asn) c.3109G>A (p.Asp1037Asn) n.3124G>A c.622G>A (p.Asp208Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.68423543G>C | CA381620674 | LRP5 | c.3082G>C (p.Asp1028His) c.*1688G>C (n.*1688G>C) c.1339G>C (p.Asp447His) c.3109G>C (p.Asp1037His) n.3124G>C c.622G>C (p.Asp208His) | |
| 11 | g.68423543G= | CA1980608004 | LRP5 | c.3082G= (p.Asp1028=) c.*1688G= (n.*1688G=) c.1339G= (p.Asp447=) c.3109G= (p.Asp1037=) n.3124G= c.622G= (p.Asp208=) | |
| 11 | g.68423543G>T | CA381620673 | LRP5 | c.3082G>T (p.Asp1028Tyr) c.*1688G>T (n.*1688G>T) c.1339G>T (p.Asp447Tyr) c.3109G>T (p.Asp1037Tyr) n.3124G>T c.622G>T (p.Asp208Tyr) | |
| 11 | g.68423544A= | CA1980608008 | LRP5 | c.3083A= (p.Asp1028=) c.*1689A= (n.*1689A=) c.1340A= (p.Asp447=) c.3110A= (p.Asp1037=) n.3125A= c.623A= (p.Asp208=) | |
| 11 | g.68423544A>C | CA381620675 | LRP5 | c.3083A>C (p.Asp1028Ala) c.*1689A>C (n.*1689A>C) c.1340A>C (p.Asp447Ala) c.3110A>C (p.Asp1037Ala) n.3125A>C c.623A>C (p.Asp208Ala) | |
| 11 | g.68423544A>G | CA381620676 | LRP5 | c.3083A>G (p.Asp1028Gly) c.*1689A>G (n.*1689A>G) c.1340A>G (p.Asp447Gly) c.3110A>G (p.Asp1037Gly) n.3125A>G c.623A>G (p.Asp208Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68423544A>T | CA381620677 | LRP5 | c.3083A>T (p.Asp1028Val) c.*1689A>T (n.*1689A>T) c.1340A>T (p.Asp447Val) c.3110A>T (p.Asp1037Val) n.3125A>T c.623A>T (p.Asp208Val) | |
| 11 | g.68423545C>A | CA381620678 | LRP5 | c.3084C>A (p.Asp1028Glu) c.*1690C>A (n.*1690C>A) c.1341C>A (p.Asp447Glu) c.3111C>A (p.Asp1037Glu) n.3126C>A c.624C>A (p.Asp208Glu) | ClinVar dbSNP |
| 11 | g.68423545C>G | CA381620679 | LRP5 | c.3084C>G (p.Asp1028Glu) c.*1690C>G (n.*1690C>G) c.1341C>G (p.Asp447Glu) c.3111C>G (p.Asp1037Glu) n.3126C>G c.624C>G (p.Asp208Glu) | |
| 11 | g.68423545C>T | CA475463726 | LRP5 | c.3084C>T (p.Asp1028=) c.*1690C>T (n.*1690C>T) c.1341C>T (p.Asp447=) c.3111C>T (p.Asp1037=) n.3126C>T c.624C>T (p.Asp208=) | |
| 11 | g.68423546C>A | CA381620680 | LRP5 | c.3085C>A (p.Leu1029Ile) c.*1691C>A (n.*1691C>A) c.1342C>A (p.Leu448Ile) c.3112C>A (p.Leu1038Ile) n.3127C>A c.625C>A (p.Leu209Ile) | |
| 11 | g.68423546C>G | CA381620681 | LRP5 | c.3085C>G (p.Leu1029Val) c.*1691C>G (n.*1691C>G) c.1342C>G (p.Leu448Val) c.3112C>G (p.Leu1038Val) n.3127C>G c.625C>G (p.Leu209Val) | |
| 11 | g.68423546C>T | CA381620682 | LRP5 | c.3085C>T (p.Leu1029Phe) c.*1691C>T (n.*1691C>T) c.1342C>T (p.Leu448Phe) c.3112C>T (p.Leu1038Phe) n.3127C>T c.625C>T (p.Leu209Phe) | |
| 11 | g.68423546_68423547insCAACCAAACACACCCAAC | CA2792541621 | LRP5 | c.3085_3086insCAACCAAACACACCCAAC (p.Asp1028_Leu1029insProThrLysHisThrGln) c.*1691_*1692insCAACCAAACACACCCAAC (n.*1691_*1692insCAACCAAACACACCCAAC) c.1342_1343insCAACCAAACACACCCAAC (p.Asp447_Leu448insProThrLysHisThrGln) c.3112_3113insCAACCAAACACACCCAAC (p.Asp1037_Leu1038insProThrLysHisThrGln) n.3127_3128insCAACCAAACACACCCAAC c.625_626insCAACCAAACACACCCAAC (p.Asp208_Leu209insProThrLysHisThrGln) | |
| 11 | g.68423547T>A | CA381620683 | LRP5 | c.3086T>A (p.Leu1029His) c.*1692T>A (n.*1692T>A) c.1343T>A (p.Leu448His) c.3113T>A (p.Leu1038His) n.3128T>A c.626T>A (p.Leu209His) | |
| 11 | g.68423547T>C | CA381620684 | LRP5 | c.3086T>C (p.Leu1029Pro) c.*1692T>C (n.*1692T>C) c.1343T>C (p.Leu448Pro) c.3113T>C (p.Leu1038Pro) n.3128T>C c.626T>C (p.Leu209Pro) | |
| 11 | g.68423547T>G | CA381620685 | LRP5 | c.3086T>G (p.Leu1029Arg) c.*1692T>G (n.*1692T>G) c.1343T>G (p.Leu448Arg) c.3113T>G (p.Leu1038Arg) n.3128T>G c.626T>G (p.Leu209Arg) | gnomAD v4 |
| 11 | g.68423548C>A | CA475463730 | LRP5 | c.3087C>A (p.Leu1029=) c.*1693C>A (n.*1693C>A) c.1344C>A (p.Leu448=) c.3114C>A (p.Leu1038=) n.3129C>A c.627C>A (p.Leu209=) | |
| 11 | g.68423548C>G | CA475463727 | LRP5 | c.3087C>G (p.Leu1029=) c.*1693C>G (n.*1693C>G) c.1344C>G (p.Leu448=) c.3114C>G (p.Leu1038=) n.3129C>G c.627C>G (p.Leu209=) | |
| 11 | g.68423548C>T | CA475463729 | LRP5 | c.3087C>T (p.Leu1029=) c.*1693C>T (n.*1693C>T) c.1344C>T (p.Leu448=) c.3114C>T (p.Leu1038=) n.3129C>T c.627C>T (p.Leu209=) | |
| 11 | g.68423549A>C | CA381620687 | LRP5 | c.3088A>C (p.Ser1030Arg) c.*1694A>C (n.*1694A>C) c.1345A>C (p.Ser449Arg) c.3115A>C (p.Ser1039Arg) n.3130A>C c.628A>C (p.Ser210Arg) | |
| 11 | g.68423549A>G | CA381620688 | LRP5 | c.3088A>G (p.Ser1030Gly) c.*1694A>G (n.*1694A>G) c.1345A>G (p.Ser449Gly) c.3115A>G (p.Ser1039Gly) n.3130A>G c.628A>G (p.Ser210Gly) | gnomAD v4 |
| 11 | g.68423549A>T | CA381620686 | LRP5 | c.3088A>T (p.Ser1030Cys) c.*1694A>T (n.*1694A>T) c.1345A>T (p.Ser449Cys) c.3115A>T (p.Ser1039Cys) n.3130A>T c.628A>T (p.Ser210Cys) | |
| 11 | g.68423550G>A | CA381620689 | LRP5 | c.3089G>A (p.Ser1030Asn) c.*1695G>A (n.*1695G>A) c.1346G>A (p.Ser449Asn) c.3116G>A (p.Ser1039Asn) n.3131G>A c.629G>A (p.Ser210Asn) | |
| 11 | g.68423550G>C | CA381620690 | LRP5 | c.3089G>C (p.Ser1030Thr) c.*1695G>C (n.*1695G>C) c.1346G>C (p.Ser449Thr) c.3116G>C (p.Ser1039Thr) n.3131G>C c.629G>C (p.Ser210Thr) | |
| 11 | g.68423550G>T | CA381620691 | LRP5 | c.3089G>T (p.Ser1030Ile) c.*1695G>T (n.*1695G>T) c.1346G>T (p.Ser449Ile) c.3116G>T (p.Ser1039Ile) n.3131G>T c.629G>T (p.Ser210Ile) | |
| 11 | g.68423551C>A | CA381620692 | LRP5 | c.3090C>A (p.Ser1030Arg) c.*1696C>A (n.*1696C>A) c.1347C>A (p.Ser449Arg) c.3117C>A (p.Ser1039Arg) n.3132C>A c.630C>A (p.Ser210Arg) | |
| 11 | g.68423551C>G | CA381620693 | LRP5 | c.3090C>G (p.Ser1030Arg) c.*1696C>G (n.*1696C>G) c.1347C>G (p.Ser449Arg) c.3117C>G (p.Ser1039Arg) n.3132C>G c.630C>G (p.Ser210Arg) | |
| 11 | g.68423551C>T | CA475463733 | LRP5 | c.3090C>T (p.Ser1030=) c.*1696C>T (n.*1696C>T) c.1347C>T (p.Ser449=) c.3117C>T (p.Ser1039=) n.3132C>T c.630C>T (p.Ser210=) | |
| 11 | g.68423552A= | CA1980608014 | LRP5 | c.3091A= (p.Ile1031=) c.*1697A= (n.*1697A=) c.1348A= (p.Ile450=) c.3118A= (p.Ile1040=) n.3133A= c.631A= (p.Ile211=) | |
| 11 | g.68423552A>C | CA381620694 | LRP5 | c.3091A>C (p.Ile1031Leu) c.*1697A>C (n.*1697A>C) c.1348A>C (p.Ile450Leu) c.3118A>C (p.Ile1040Leu) n.3133A>C c.631A>C (p.Ile211Leu) | |
| 11 | g.68423552A>G | CA6149845 | LRP5 | c.3091A>G (p.Ile1031Val) c.*1697A>G (n.*1697A>G) c.1348A>G (p.Ile450Val) c.3118A>G (p.Ile1040Val) n.3133A>G c.631A>G (p.Ile211Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68423552A>T | CA6149846 | LRP5 | c.3091A>T (p.Ile1031Phe) c.*1697A>T (n.*1697A>T) c.1348A>T (p.Ile450Phe) c.3118A>T (p.Ile1040Phe) n.3133A>T c.631A>T (p.Ile211Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68423553T>A | CA381620695 | LRP5 | c.3092T>A (p.Ile1031Asn) c.*1698T>A (n.*1698T>A) c.1349T>A (p.Ile450Asn) c.3119T>A (p.Ile1040Asn) n.3134T>A c.632T>A (p.Ile211Asn) | |
| 11 | g.68423553T>C | CA381620696 | LRP5 | c.3092T>C (p.Ile1031Thr) c.*1698T>C (n.*1698T>C) c.1349T>C (p.Ile450Thr) c.3119T>C (p.Ile1040Thr) n.3134T>C c.632T>C (p.Ile211Thr) | |
| 11 | g.68423553T>G | CA381620697 | LRP5 | c.3092T>G (p.Ile1031Ser) c.*1698T>G (n.*1698T>G) c.1349T>G (p.Ile450Ser) c.3119T>G (p.Ile1040Ser) n.3134T>G c.632T>G (p.Ile211Ser) | |
| 11 | g.68423554C>A | CA475463735 | LRP5 | c.3093C>A (p.Ile1031=) c.*1699C>A (n.*1699C>A) c.1350C>A (p.Ile450=) c.3120C>A (p.Ile1040=) n.3135C>A c.633C>A (p.Ile211=) | |
| 11 | g.68423554C= | CA1980608020 | LRP5 | c.3093C= (p.Ile1031=) c.*1699C= (n.*1699C=) c.1350C= (p.Ile450=) c.3120C= (p.Ile1040=) n.3135C= c.633C= (p.Ile211=) | |
| 11 | g.68423554C>G | CA381620698 | LRP5 | c.3093C>G (p.Ile1031Met) c.*1699C>G (n.*1699C>G) c.1350C>G (p.Ile450Met) c.3120C>G (p.Ile1040Met) n.3135C>G c.633C>G (p.Ile211Met) | |
| 11 | g.68423554C>T | CA6149847 | LRP5 | c.3093C>T (p.Ile1031=) c.*1699C>T (n.*1699C>T) c.1350C>T (p.Ile450=) c.3120C>T (p.Ile1040=) n.3135C>T c.633C>T (p.Ile211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68423554_68423555insCCCAAAACCAAACACACCCAA | CA2792541622 | LRP5 | c.3093_3094insCCCAAAACCAAACACACCCAA (p.Ile1031_Asp1032insProLysThrLysHisThrGln) c.*1699_*1700insCCCAAAACCAAACACACCCAA (n.*1699_*1700insCCCAAAACCAAACACACCCAA) c.1350_1351insCCCAAAACCAAACACACCCAA (p.Ile450_Asp451insProLysThrLysHisThrGln) c.3120_3121insCCCAAAACCAAACACACCCAA (p.Ile1040_Asp1041insProLysThrLysHisThrGln) n.3135_3136insCCCAAAACCAAACACACCCAA c.633_634insCCCAAAACCAAACACACCCAA (p.Ile211_Asp212insProLysThrLysHisThrGln) | |
| 11 | g.68423555G>A | CA6149848 | LRP5 | c.3094G>A (p.Asp1032Asn) c.*1700G>A (n.*1700G>A) c.1351G>A (p.Asp451Asn) c.3121G>A (p.Asp1041Asn) n.3136G>A c.634G>A (p.Asp212Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68423555G>C | CA381620699 | LRP5 | c.3094G>C (p.Asp1032His) c.*1700G>C (n.*1700G>C) c.1351G>C (p.Asp451His) c.3121G>C (p.Asp1041His) n.3136G>C c.634G>C (p.Asp212His) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68423555G= | CA1980608024 | LRP5 | c.3094G= (p.Asp1032=) c.*1700G= (n.*1700G=) c.1351G= (p.Asp451=) c.3121G= (p.Asp1041=) n.3136G= c.634G= (p.Asp212=) | |
| 11 | g.68423555G>T | CA224278027 | LRP5 | c.3094G>T (p.Asp1032Tyr) c.*1700G>T (n.*1700G>T) c.1351G>T (p.Asp451Tyr) c.3121G>T (p.Asp1041Tyr) n.3136G>T c.634G>T (p.Asp212Tyr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68423556A>C | CA381620700 | LRP5 | c.3095A>C (p.Asp1032Ala) c.*1701A>C (n.*1701A>C) c.1352A>C (p.Asp451Ala) c.3122A>C (p.Asp1041Ala) n.3137A>C c.635A>C (p.Asp212Ala) | |
| 11 | g.68423556A>G | CA381620701 | LRP5 | c.3095A>G (p.Asp1032Gly) c.*1701A>G (n.*1701A>G) c.1352A>G (p.Asp451Gly) c.3122A>G (p.Asp1041Gly) n.3137A>G c.635A>G (p.Asp212Gly) | |
| 11 | g.68423556A>T | CA381620702 | LRP5 | c.3095A>T (p.Asp1032Val) c.*1701A>T (n.*1701A>T) c.1352A>T (p.Asp451Val) c.3122A>T (p.Asp1041Val) n.3137A>T c.635A>T (p.Asp212Val) | |
| 11 | g.68423557C>A | CA381620703 | LRP5 | c.3096C>A (p.Asp1032Glu) c.*1702C>A (n.*1702C>A) c.1353C>A (p.Asp451Glu) c.3123C>A (p.Asp1041Glu) n.3138C>A c.636C>A (p.Asp212Glu) | |
| 11 | g.68423557C>G | CA381620704 | LRP5 | c.3096C>G (p.Asp1032Glu) c.*1702C>G (n.*1702C>G) c.1353C>G (p.Asp451Glu) c.3123C>G (p.Asp1041Glu) n.3138C>G c.636C>G (p.Asp212Glu) | |
| 11 | g.68423557C>T | CA475463739 | LRP5 | c.3096C>T (p.Asp1032=) c.*1702C>T (n.*1702C>T) c.1353C>T (p.Asp451=) c.3123C>T (p.Asp1041=) n.3138C>T c.636C>T (p.Asp212=) | gnomAD v4 |
| 11 | g.68423558A>C | CA381620705 | LRP5 | c.3097A>C (p.Ile1033Leu) c.*1703A>C (n.*1703A>C) c.1354A>C (p.Ile452Leu) c.3124A>C (p.Ile1042Leu) n.3139A>C c.637A>C (p.Ile213Leu) | |
| 11 | g.68423558A>G | CA381620706 | LRP5 | c.3097A>G (p.Ile1033Val) c.*1703A>G (n.*1703A>G) c.1354A>G (p.Ile452Val) c.3124A>G (p.Ile1042Val) n.3139A>G c.637A>G (p.Ile213Val) | |
| 11 | g.68423558A>T | CA381620707 | LRP5 | c.3097A>T (p.Ile1033Phe) c.*1703A>T (n.*1703A>T) c.1354A>T (p.Ile452Phe) c.3124A>T (p.Ile1042Phe) n.3139A>T c.637A>T (p.Ile213Phe) | ClinVar dbSNP |
| 11 | g.68423559T>A | CA381620708 | LRP5 | c.3098T>A (p.Ile1033Asn) c.*1704T>A (n.*1704T>A) c.1355T>A (p.Ile452Asn) c.3125T>A (p.Ile1042Asn) n.3140T>A c.638T>A (p.Ile213Asn) | |
| 11 | g.68423559T>C | CA381620709 | LRP5 | c.3098T>C (p.Ile1033Thr) c.*1704T>C (n.*1704T>C) c.1355T>C (p.Ile452Thr) c.3125T>C (p.Ile1042Thr) n.3140T>C c.638T>C (p.Ile213Thr) | |
| 11 | g.68423559T>G | CA381620710 | LRP5 | c.3098T>G (p.Ile1033Ser) c.*1704T>G (n.*1704T>G) c.1355T>G (p.Ile452Ser) c.3125T>G (p.Ile1042Ser) n.3140T>G c.638T>G (p.Ile213Ser) | |
| 11 | g.68423560C>A | CA475463741 | LRP5 | c.3099C>A (p.Ile1033=) c.*1705C>A (n.*1705C>A) c.1356C>A (p.Ile452=) c.3126C>A (p.Ile1042=) n.3141C>A c.639C>A (p.Ile213=) | |
| 11 | g.68423560C>G | CA381620711 | LRP5 | c.3099C>G (p.Ile1033Met) c.*1705C>G (n.*1705C>G) c.1356C>G (p.Ile452Met) c.3126C>G (p.Ile1042Met) n.3141C>G c.639C>G (p.Ile213Met) | |
| 11 | g.68423560C>T | CA475463742 | LRP5 | c.3099C>T (p.Ile1033=) c.*1705C>T (n.*1705C>T) c.1356C>T (p.Ile452=) c.3126C>T (p.Ile1042=) n.3141C>T c.639C>T (p.Ile213=) | ClinVar |
| 11 | g.68423561T>A | CA381620712 | LRP5 | c.3100T>A (p.Tyr1034Asn) c.*1706T>A (n.*1706T>A) c.1357T>A (p.Tyr453Asn) c.3127T>A (p.Tyr1043Asn) n.3142T>A c.640T>A (p.Tyr214Asn) | |
| 11 | g.68423561T>C | CA381620713 | LRP5 | c.3100T>C (p.Tyr1034His) c.*1706T>C (n.*1706T>C) c.1357T>C (p.Tyr453His) c.3127T>C (p.Tyr1043His) n.3142T>C c.640T>C (p.Tyr214His) | |
| 11 | g.68423561T>G | CA381620714 | LRP5 | c.3100T>G (p.Tyr1034Asp) c.*1706T>G (n.*1706T>G) c.1357T>G (p.Tyr453Asp) c.3127T>G (p.Tyr1043Asp) n.3142T>G c.640T>G (p.Tyr214Asp) | |
| 11 | g.68423562A>C | CA381620716 | LRP5 | c.3101A>C (p.Tyr1034Ser) c.*1707A>C (n.*1707A>C) c.1358A>C (p.Tyr453Ser) c.3128A>C (p.Tyr1043Ser) n.3143A>C c.641A>C (p.Tyr214Ser) | |
| 11 | g.68423562A>G | CA381620717 | LRP5 | c.3101A>G (p.Tyr1034Cys) c.*1707A>G (n.*1707A>G) c.1358A>G (p.Tyr453Cys) c.3128A>G (p.Tyr1043Cys) n.3143A>G c.641A>G (p.Tyr214Cys) | ClinVar |
| 11 | g.68423562A>T | CA381620715 | LRP5 | c.3101A>T (p.Tyr1034Phe) c.*1707A>T (n.*1707A>T) c.1358A>T (p.Tyr453Phe) c.3128A>T (p.Tyr1043Phe) n.3143A>T c.641A>T (p.Tyr214Phe) | |
| 11 | g.68423563C>A | CA381620718 | LRP5 | c.3102C>A (p.Tyr1034Ter) c.*1708C>A (n.*1708C>A) c.1359C>A (p.Tyr453Ter) c.3129C>A (p.Tyr1043Ter) n.3144C>A c.642C>A (p.Tyr214Ter) | |
| 11 | g.68423563C= | CA1980608028 | LRP5 | c.3102C= (p.Tyr1034=) c.*1708C= (n.*1708C=) c.1359C= (p.Tyr453=) c.3129C= (p.Tyr1043=) n.3144C= c.642C= (p.Tyr214=) | |
| 11 | g.68423563C>G | CA381620719 | LRP5 | c.3102C>G (p.Tyr1034Ter) c.*1708C>G (n.*1708C>G) c.1359C>G (p.Tyr453Ter) c.3129C>G (p.Tyr1043Ter) n.3144C>G c.642C>G (p.Tyr214Ter) | |
| 11 | g.68423563C>T | CA6149849 | LRP5 | c.3102C>T (p.Tyr1034=) c.*1708C>T (n.*1708C>T) c.1359C>T (p.Tyr453=) c.3129C>T (p.Tyr1043=) n.3144C>T c.642C>T (p.Tyr214=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68423564A>C | CA381620720 | LRP5 | c.3103A>C (p.Ser1035Arg) c.*1709A>C (n.*1709A>C) c.1360A>C (p.Ser454Arg) c.3130A>C (p.Ser1044Arg) n.3145A>C c.643A>C (p.Ser215Arg) | |
| 11 | g.68423564A>G | CA381620721 | LRP5 | c.3103A>G (p.Ser1035Gly) c.*1709A>G (n.*1709A>G) c.1360A>G (p.Ser454Gly) c.3130A>G (p.Ser1044Gly) n.3145A>G c.643A>G (p.Ser215Gly) | ClinVar dbSNP |
| 11 | g.68423564A>T | CA381620722 | LRP5 | c.3103A>T (p.Ser1035Cys) c.*1709A>T (n.*1709A>T) c.1360A>T (p.Ser454Cys) c.3130A>T (p.Ser1044Cys) n.3145A>T c.643A>T (p.Ser215Cys) | |
| 11 | g.68423565G>A | CA381620723 | LRP5 | c.3104G>A (p.Ser1035Asn) c.*1710G>A (n.*1710G>A) c.1361G>A (p.Ser454Asn) c.3131G>A (p.Ser1044Asn) n.3146G>A c.644G>A (p.Ser215Asn) | |
| 11 | g.68423565G>C | CA381620724 | LRP5 | c.3104G>C (p.Ser1035Thr) c.*1710G>C (n.*1710G>C) c.1361G>C (p.Ser454Thr) c.3131G>C (p.Ser1044Thr) n.3146G>C c.644G>C (p.Ser215Thr) | |
| 11 | g.68423565G>T | CA381620725 | LRP5 | c.3104G>T (p.Ser1035Ile) c.*1710G>T (n.*1710G>T) c.1361G>T (p.Ser454Ile) c.3131G>T (p.Ser1044Ile) n.3146G>T c.644G>T (p.Ser215Ile) | gnomAD v4 |
| 11 | g.68423566C>A | CA381620726 | LRP5 | c.3105C>A (p.Ser1035Arg) c.*1711C>A (n.*1711C>A) c.1362C>A (p.Ser454Arg) c.3132C>A (p.Ser1044Arg) n.3147C>A c.645C>A (p.Ser215Arg) | |
| 11 | g.68423566C>G | CA381620727 | LRP5 | c.3105C>G (p.Ser1035Arg) c.*1711C>G (n.*1711C>G) c.1362C>G (p.Ser454Arg) c.3132C>G (p.Ser1044Arg) n.3147C>G c.645C>G (p.Ser215Arg) | |
| 11 | g.68423566C>T | CA475463744 | LRP5 | c.3105C>T (p.Ser1035=) c.*1711C>T (n.*1711C>T) c.1362C>T (p.Ser454=) c.3132C>T (p.Ser1044=) n.3147C>T c.645C>T (p.Ser215=) | |
| 11 | g.68423567C>A | CA475463745 | LRP5 | c.3106C>A (p.Arg1036=) c.*1712C>A (n.*1712C>A) c.1363C>A (p.Arg455=) c.3133C>A (p.Arg1045=) n.3148C>A c.646C>A (p.Arg216=) | |
| 11 | g.68423567C= | CA1980608031 | LRP5 | c.3106C= (p.Arg1036=) c.*1712C= (n.*1712C=) c.1363C= (p.Arg455=) c.3133C= (p.Arg1045=) n.3148C= c.646C= (p.Arg216=) | |
| 11 | g.68423567C>G | CA381620728 | LRP5 | c.3106C>G (p.Arg1036Gly) c.*1712C>G (n.*1712C>G) c.1363C>G (p.Arg455Gly) c.3133C>G (p.Arg1045Gly) n.3148C>G c.646C>G (p.Arg216Gly) | |
| 11 | g.68423567C>T | CA6149850 | LRP5 | c.3106C>T (p.Arg1036Trp) c.*1712C>T (n.*1712C>T) c.1363C>T (p.Arg455Trp) c.3133C>T (p.Arg1045Trp) n.3148C>T c.646C>T (p.Arg216Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68423568G>A | CA210921 | LRP5 | c.3107G>A (p.Arg1036Gln) c.*1713G>A (n.*1713G>A) c.1364G>A (p.Arg455Gln) c.3134G>A (p.Arg1045Gln) n.3149G>A c.647G>A (p.Arg216Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68423568G>C | CA381620729 | LRP5 | c.3107G>C (p.Arg1036Pro) c.*1713G>C (n.*1713G>C) c.1364G>C (p.Arg455Pro) c.3134G>C (p.Arg1045Pro) n.3149G>C c.647G>C (p.Arg216Pro) | dbSNP |
| 11 | g.68423568G= | CA1980608056 | LRP5 | c.3107G= (p.Arg1036=) c.*1713G= (n.*1713G=) c.1364G= (p.Arg455=) c.3134G= (p.Arg1045=) n.3149G= c.647G= (p.Arg216=) | |
| 11 | g.68423568G>T | CA6149851 | LRP5 | c.3107G>T (p.Arg1036Leu) c.*1713G>T (n.*1713G>T) c.1364G>T (p.Arg455Leu) c.3134G>T (p.Arg1045Leu) n.3149G>T c.647G>T (p.Arg216Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |