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.68416351A>C | CA381619671 | LRP5 | c.2851A>C (p.Ser951Arg) c.*1457A>C (n.*1457A>C) c.1108A>C (p.Ser370Arg) c.2878A>C (p.Ser960Arg) n.2893A>C c.391A>C (p.Ser131Arg) | |
| 11 | g.68416351A>G | CA381619672 | LRP5 | c.2851A>G (p.Ser951Gly) c.*1457A>G (n.*1457A>G) c.1108A>G (p.Ser370Gly) c.2878A>G (p.Ser960Gly) n.2893A>G c.391A>G (p.Ser131Gly) | |
| 11 | g.68416351A>T | CA381619673 | LRP5 | c.2851A>T (p.Ser951Cys) c.*1457A>T (n.*1457A>T) c.1108A>T (p.Ser370Cys) c.2878A>T (p.Ser960Cys) n.2893A>T c.391A>T (p.Ser131Cys) | |
| 11 | g.68416352G>A | CA381619674 | LRP5 | c.2852G>A (p.Ser951Asn) c.*1458G>A (n.*1458G>A) c.1109G>A (p.Ser370Asn) c.2879G>A (p.Ser960Asn) n.2894G>A c.392G>A (p.Ser131Asn) | |
| 11 | g.68416352G>C | CA381619675 | LRP5 | c.2852G>C (p.Ser951Thr) c.*1458G>C (n.*1458G>C) c.1109G>C (p.Ser370Thr) c.2879G>C (p.Ser960Thr) n.2894G>C c.392G>C (p.Ser131Thr) | |
| 11 | g.68416352G>T | CA381619676 | LRP5 | c.2852G>T (p.Ser951Ile) c.*1458G>T (n.*1458G>T) c.1109G>T (p.Ser370Ile) c.2879G>T (p.Ser960Ile) n.2894G>T c.392G>T (p.Ser131Ile) | |
| 11 | g.68416353C>A | CA381619678 | LRP5 | c.2853C>A (p.Ser951Arg) c.*1459C>A (n.*1459C>A) c.1110C>A (p.Ser370Arg) c.2880C>A (p.Ser960Arg) n.2895C>A c.393C>A (p.Ser131Arg) | |
| 11 | g.68416353C>G | CA381619677 | LRP5 | c.2853C>G (p.Ser951Arg) c.*1459C>G (n.*1459C>G) c.1110C>G (p.Ser370Arg) c.2880C>G (p.Ser960Arg) n.2895C>G c.393C>G (p.Ser131Arg) | |
| 11 | g.68416353C>T | CA475463402 | LRP5 | c.2853C>T (p.Ser951=) c.*1459C>T (n.*1459C>T) c.1110C>T (p.Ser370=) c.2880C>T (p.Ser960=) n.2895C>T c.393C>T (p.Ser131=) | |
| 11 | g.68416354C>A | CA381619679 | LRP5 | c.2854C>A (p.Gln952Lys) c.*1460C>A (n.*1460C>A) c.1111C>A (p.Gln371Lys) c.2881C>A (p.Gln961Lys) n.2896C>A c.394C>A (p.Gln132Lys) | |
| 11 | g.68416354C>G | CA381619680 | LRP5 | c.2854C>G (p.Gln952Glu) c.*1460C>G (n.*1460C>G) c.1111C>G (p.Gln371Glu) c.2881C>G (p.Gln961Glu) n.2896C>G c.394C>G (p.Gln132Glu) | |
| 11 | g.68416354C>T | CA381619681 | LRP5 | c.2854C>T (p.Gln952Ter) c.*1460C>T (n.*1460C>T) c.1111C>T (p.Gln371Ter) c.2881C>T (p.Gln961Ter) n.2896C>T c.394C>T (p.Gln132Ter) | |
| 11 | g.68416355A>C | CA381619682 | LRP5 | c.2855A>C (p.Gln952Pro) c.*1461A>C (n.*1461A>C) c.1112A>C (p.Gln371Pro) c.2882A>C (p.Gln961Pro) n.2897A>C c.395A>C (p.Gln132Pro) | |
| 11 | g.68416355A>G | CA381619683 | LRP5 | c.2855A>G (p.Gln952Arg) c.*1461A>G (n.*1461A>G) c.1112A>G (p.Gln371Arg) c.2882A>G (p.Gln961Arg) n.2897A>G c.395A>G (p.Gln132Arg) | |
| 11 | g.68416355A>T | CA381619684 | LRP5 | c.2855A>T (p.Gln952Leu) c.*1461A>T (n.*1461A>T) c.1112A>T (p.Gln371Leu) c.2882A>T (p.Gln961Leu) n.2897A>T c.395A>T (p.Gln132Leu) | |
| 11 | g.68416356G>A | CA475463405 | LRP5 | c.2856G>A (p.Gln952=) c.*1462G>A (n.*1462G>A) c.1113G>A (p.Gln371=) c.2883G>A (p.Gln961=) n.2898G>A c.396G>A (p.Gln132=) | gnomAD v3 gnomAD v4 |
| 11 | g.68416356G>C | CA381619685 | LRP5 | c.2856G>C (p.Gln952His) c.*1462G>C (n.*1462G>C) c.1113G>C (p.Gln371His) c.2883G>C (p.Gln961His) n.2898G>C c.396G>C (p.Gln132His) | |
| 11 | g.68416356G>T | CA381619686 | LRP5 | c.2856G>T (p.Gln952His) c.*1462G>T (n.*1462G>T) c.1113G>T (p.Gln371His) c.2883G>T (p.Gln961His) n.2898G>T c.396G>T (p.Gln132His) | |
| 11 | g.68416357A>C | CA381619687 | LRP5 | c.2857A>C (p.Lys953Gln) c.*1463A>C (n.*1463A>C) c.1114A>C (p.Lys372Gln) c.2884A>C (p.Lys962Gln) n.2899A>C c.397A>C (p.Lys133Gln) | |
| 11 | g.68416357A>G | CA381619688 | LRP5 | c.2857A>G (p.Lys953Glu) c.*1463A>G (n.*1463A>G) c.1114A>G (p.Lys372Glu) c.2884A>G (p.Lys962Glu) n.2899A>G c.397A>G (p.Lys133Glu) | |
| 11 | g.68416357A>T | CA381619689 | LRP5 | c.2857A>T (p.Lys953Ter) c.*1463A>T (n.*1463A>T) c.1114A>T (p.Lys372Ter) c.2884A>T (p.Lys962Ter) n.2899A>T c.397A>T (p.Lys133Ter) | |
| 11 | g.68416358A= | CA1980600527 | LRP5 | c.2858A= (p.Lys953=) c.*1464A= (n.*1464A=) c.1115A= (p.Lys372=) c.2885A= (p.Lys962=) n.2900A= c.398A= (p.Lys133=) | |
| 11 | g.68416358A>C | CA381619690 | LRP5 | c.2858A>C (p.Lys953Thr) c.*1464A>C (n.*1464A>C) c.1115A>C (p.Lys372Thr) c.2885A>C (p.Lys962Thr) n.2900A>C c.398A>C (p.Lys133Thr) | |
| 11 | g.68416358A>G | CA224275830 | LRP5 | c.2858A>G (p.Lys953Arg) c.*1464A>G (n.*1464A>G) c.1115A>G (p.Lys372Arg) c.2885A>G (p.Lys962Arg) n.2900A>G c.398A>G (p.Lys133Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68416358A>T | CA381619691 | LRP5 | c.2858A>T (p.Lys953Ile) c.*1464A>T (n.*1464A>T) c.1115A>T (p.Lys372Ile) c.2885A>T (p.Lys962Ile) n.2900A>T c.398A>T (p.Lys133Ile) | |
| 11 | g.68416359A= | CA1980600530 | LRP5 | c.2859A= (p.Lys953=) c.*1465A= (n.*1465A=) c.1116A= (p.Lys372=) c.2886A= (p.Lys962=) n.2901A= c.399A= (p.Lys133=) | |
| 11 | g.68416359A>C | CA381619692 | LRP5 | c.2859A>C (p.Lys953Asn) c.*1465A>C (n.*1465A>C) c.1116A>C (p.Lys372Asn) c.2886A>C (p.Lys962Asn) n.2901A>C c.399A>C (p.Lys133Asn) | |
| 11 | g.68416359A>G | CA475463406 | LRP5 | c.2859A>G (p.Lys953=) c.*1465A>G (n.*1465A>G) c.1116A>G (p.Lys372=) c.2886A>G (p.Lys962=) n.2901A>G c.399A>G (p.Lys133=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68416359A>T | CA381619693 | LRP5 | c.2859A>T (p.Lys953Asn) c.*1465A>T (n.*1465A>T) c.1116A>T (p.Lys372Asn) c.2886A>T (p.Lys962Asn) n.2901A>T c.399A>T (p.Lys133Asn) | |
| 11 | g.68416360T>A | CA381619694 | LRP5 | c.2860T>A (p.Ser954Thr) c.*1466T>A (n.*1466T>A) c.1117T>A (p.Ser373Thr) c.2887T>A (p.Ser963Thr) n.2902T>A c.400T>A (p.Ser134Thr) | |
| 11 | g.68416360T>C | CA381619695 | LRP5 | c.2860T>C (p.Ser954Pro) c.*1466T>C (n.*1466T>C) c.1117T>C (p.Ser373Pro) c.2887T>C (p.Ser963Pro) n.2902T>C c.400T>C (p.Ser134Pro) | |
| 11 | g.68416360T>G | CA381619696 | LRP5 | c.2860T>G (p.Ser954Ala) c.*1466T>G (n.*1466T>G) c.1117T>G (p.Ser373Ala) c.2887T>G (p.Ser963Ala) n.2902T>G c.400T>G (p.Ser134Ala) | gnomAD v4 |
| 11 | g.68416361C>A | CA381619697 | LRP5 | c.2861C>A (p.Ser954Tyr) c.*1467C>A (n.*1467C>A) c.1118C>A (p.Ser373Tyr) c.2888C>A (p.Ser963Tyr) n.2903C>A c.401C>A (p.Ser134Tyr) | COSMIC |
| 11 | g.68416361C= | CA1980600535 | LRP5 | c.2861C= (p.Ser954=) c.*1467C= (n.*1467C=) c.1118C= (p.Ser373=) c.2888C= (p.Ser963=) n.2903C= c.401C= (p.Ser134=) | |
| 11 | g.68416361C>G | CA381619698 | LRP5 | c.2861C>G (p.Ser954Cys) c.*1467C>G (n.*1467C>G) c.1118C>G (p.Ser373Cys) c.2888C>G (p.Ser963Cys) n.2903C>G c.401C>G (p.Ser134Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68416361C>T | CA381619699 | LRP5 | c.2861C>T (p.Ser954Phe) c.*1467C>T (n.*1467C>T) c.1118C>T (p.Ser373Phe) c.2888C>T (p.Ser963Phe) n.2903C>T c.401C>T (p.Ser134Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68416362T>A | CA475463408 | LRP5 | c.2862T>A (p.Ser954=) c.*1468T>A (n.*1468T>A) c.1119T>A (p.Ser373=) c.2889T>A (p.Ser963=) n.2904T>A c.402T>A (p.Ser134=) | |
| 11 | g.68416362T>C | CA475463409 | LRP5 | c.2862T>C (p.Ser954=) c.*1468T>C (n.*1468T>C) c.1119T>C (p.Ser373=) c.2889T>C (p.Ser963=) n.2904T>C c.402T>C (p.Ser134=) | |
| 11 | g.68416362T>G | CA475463410 | LRP5 | c.2862T>G (p.Ser954=) c.*1468T>G (n.*1468T>G) c.1119T>G (p.Ser373=) c.2889T>G (p.Ser963=) n.2904T>G c.402T>G (p.Ser134=) | |
| 11 | g.68416363G>A | CA381619700 | LRP5 | c.2863G>A (p.Ala955Thr) c.*1469G>A (n.*1469G>A) c.1120G>A (p.Ala374Thr) c.2890G>A (p.Ala964Thr) n.2905G>A c.403G>A (p.Ala135Thr) | |
| 11 | g.68416363G>C | CA381619701 | LRP5 | c.2863G>C (p.Ala955Pro) c.*1469G>C (n.*1469G>C) c.1120G>C (p.Ala374Pro) c.2890G>C (p.Ala964Pro) n.2905G>C c.403G>C (p.Ala135Pro) | |
| 11 | g.68416363G= | CA1980600537 | LRP5 | c.2863G= (p.Ala955=) c.*1469G= (n.*1469G=) c.1120G= (p.Ala374=) c.2890G= (p.Ala964=) n.2905G= c.403G= (p.Ala135=) | |
| 11 | g.68416363G>T | CA381619702 | LRP5 | c.2863G>T (p.Ala955Ser) c.*1469G>T (n.*1469G>T) c.1120G>T (p.Ala374Ser) c.2890G>T (p.Ala964Ser) n.2905G>T c.403G>T (p.Ala135Ser) | dbSNP |
| 11 | g.68416364C>A | CA381619703 | LRP5 | c.2864C>A (p.Ala955Asp) c.*1470C>A (n.*1470C>A) c.1121C>A (p.Ala374Asp) c.2891C>A (p.Ala964Asp) n.2906C>A c.404C>A (p.Ala135Asp) | |
| 11 | g.68416364C>G | CA381619704 | LRP5 | c.2864C>G (p.Ala955Gly) c.*1470C>G (n.*1470C>G) c.1121C>G (p.Ala374Gly) c.2891C>G (p.Ala964Gly) n.2906C>G c.404C>G (p.Ala135Gly) | |
| 11 | g.68416364C>T | CA381619705 | LRP5 | c.2864C>T (p.Ala955Val) c.*1470C>T (n.*1470C>T) c.1121C>T (p.Ala374Val) c.2891C>T (p.Ala964Val) n.2906C>T c.404C>T (p.Ala135Val) | |
| 11 | g.68416365C>A | CA475463413 | LRP5 | c.2865C>A (p.Ala955=) c.*1471C>A (n.*1471C>A) c.1122C>A (p.Ala374=) c.2892C>A (p.Ala964=) n.2907C>A c.405C>A (p.Ala135=) | |
| 11 | g.68416365C>G | CA475463416 | LRP5 | c.2865C>G (p.Ala955=) c.*1471C>G (n.*1471C>G) c.1122C>G (p.Ala374=) c.2892C>G (p.Ala964=) n.2907C>G c.405C>G (p.Ala135=) | |
| 11 | g.68416365C>T | CA475463414 | LRP5 | c.2865C>T (p.Ala955=) c.*1471C>T (n.*1471C>T) c.1122C>T (p.Ala374=) c.2892C>T (p.Ala964=) n.2907C>T c.405C>T (p.Ala135=) | |
| 11 | g.68416366A>C | CA381619708 | LRP5 | c.2866A>C (p.Ile956Leu) c.*1472A>C (n.*1472A>C) c.1123A>C (p.Ile375Leu) c.2893A>C (p.Ile965Leu) n.2908A>C c.406A>C (p.Ile136Leu) | |
| 11 | g.68416366A>G | CA381619706 | LRP5 | c.2866A>G (p.Ile956Val) c.*1472A>G (n.*1472A>G) c.1123A>G (p.Ile375Val) c.2893A>G (p.Ile965Val) n.2908A>G c.406A>G (p.Ile136Val) | gnomAD v4 |
| 11 | g.68416366A>T | CA381619707 | LRP5 | c.2866A>T (p.Ile956Phe) c.*1472A>T (n.*1472A>T) c.1123A>T (p.Ile375Phe) c.2893A>T (p.Ile965Phe) n.2908A>T c.406A>T (p.Ile136Phe) | |
| 11 | g.68416367T>A | CA381619709 | LRP5 | c.2867T>A (p.Ile956Asn) c.*1473T>A (n.*1473T>A) c.1124T>A (p.Ile375Asn) c.2894T>A (p.Ile965Asn) n.2909T>A c.407T>A (p.Ile136Asn) | |
| 11 | g.68416367T>C | CA381619711 | LRP5 | c.2867T>C (p.Ile956Thr) c.*1473T>C (n.*1473T>C) c.1124T>C (p.Ile375Thr) c.2894T>C (p.Ile965Thr) n.2909T>C c.407T>C (p.Ile136Thr) | |
| 11 | g.68416367T>G | CA381619710 | LRP5 | c.2867T>G (p.Ile956Ser) c.*1473T>G (n.*1473T>G) c.1124T>G (p.Ile375Ser) c.2894T>G (p.Ile965Ser) n.2909T>G c.407T>G (p.Ile136Ser) | |
| 11 | g.68416368C>A | CA475463418 | LRP5 | c.2868C>A (p.Ile956=) c.*1474C>A (n.*1474C>A) c.1125C>A (p.Ile375=) c.2895C>A (p.Ile965=) n.2910C>A c.408C>A (p.Ile136=) | |
| 11 | g.68416368C>G | CA381619712 | LRP5 | c.2868C>G (p.Ile956Met) c.*1474C>G (n.*1474C>G) c.1125C>G (p.Ile375Met) c.2895C>G (p.Ile965Met) n.2910C>G c.408C>G (p.Ile136Met) | |
| 11 | g.68416368C>T | CA475463419 | LRP5 | c.2868C>T (p.Ile956=) c.*1474C>T (n.*1474C>T) c.1125C>T (p.Ile375=) c.2895C>T (p.Ile965=) n.2910C>T c.408C>T (p.Ile136=) | |
| 11 | g.68416369A>C | CA381619713 | LRP5 | c.2869A>C (p.Ser957Arg) c.*1475A>C (n.*1475A>C) c.1126A>C (p.Ser376Arg) c.2896A>C (p.Ser966Arg) n.2911A>C c.409A>C (p.Ser137Arg) | |
| 11 | g.68416369A>G | CA381619714 | LRP5 | c.2869A>G (p.Ser957Gly) c.*1475A>G (n.*1475A>G) c.1126A>G (p.Ser376Gly) c.2896A>G (p.Ser966Gly) n.2911A>G c.409A>G (p.Ser137Gly) | gnomAD v4 |
| 11 | g.68416369A>T | CA381619715 | LRP5 | c.2869A>T (p.Ser957Cys) c.*1475A>T (n.*1475A>T) c.1126A>T (p.Ser376Cys) c.2896A>T (p.Ser966Cys) n.2911A>T c.409A>T (p.Ser137Cys) | |
| 11 | g.68416370G>A | CA381619716 | LRP5 | c.2870G>A (p.Ser957Asn) c.*1476G>A (n.*1476G>A) c.1127G>A (p.Ser376Asn) c.2897G>A (p.Ser966Asn) n.2912G>A c.410G>A (p.Ser137Asn) | |
| 11 | g.68416370G>C | CA381619717 | LRP5 | c.2870G>C (p.Ser957Thr) c.*1476G>C (n.*1476G>C) c.1127G>C (p.Ser376Thr) c.2897G>C (p.Ser966Thr) n.2912G>C c.410G>C (p.Ser137Thr) | |
| 11 | g.68416370G>T | CA381619719 | LRP5 | c.2870G>T (p.Ser957Ile) c.*1476G>T (n.*1476G>T) c.1127G>T (p.Ser376Ile) c.2897G>T (p.Ser966Ile) n.2912G>T c.410G>T (p.Ser137Ile) | |
| 11 | g.68416371T>A | CA381619721 | LRP5 | c.2871T>A (p.Ser957Arg) c.*1477T>A (n.*1477T>A) c.1128T>A (p.Ser376Arg) c.2898T>A (p.Ser966Arg) n.2913T>A c.411T>A (p.Ser137Arg) | |
| 11 | g.68416371T>C | CA475463421 | LRP5 | c.2871T>C (p.Ser957=) c.*1477T>C (n.*1477T>C) c.1128T>C (p.Ser376=) c.2898T>C (p.Ser966=) n.2913T>C c.411T>C (p.Ser137=) | |
| 11 | g.68416371T>G | CA381619720 | LRP5 | c.2871T>G (p.Ser957Arg) c.*1477T>G (n.*1477T>G) c.1128T>G (p.Ser376Arg) c.2898T>G (p.Ser966Arg) n.2913T>G c.411T>G (p.Ser137Arg) | |
| 11 | g.68416372C>A | CA6149778 | LRP5 | c.2872C>A (p.Arg958=) c.*1478C>A (n.*1478C>A) c.1129C>A (p.Arg377=) c.2899C>A (p.Arg967=) n.2914C>A c.412C>A (p.Arg138=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68416372C= | CA1980600540 | LRP5 | c.2872C= (p.Arg958=) c.*1478C= (n.*1478C=) c.1129C= (p.Arg377=) c.2899C= (p.Arg967=) n.2914C= c.412C= (p.Arg138=) | |
| 11 | g.68416372C>G | CA381619722 | LRP5 | c.2872C>G (p.Arg958Gly) c.*1478C>G (n.*1478C>G) c.1129C>G (p.Arg377Gly) c.2899C>G (p.Arg967Gly) n.2914C>G c.412C>G (p.Arg138Gly) | ClinVar |
| 11 | g.68416372C>T | CA6149777 | LRP5 | c.2872C>T (p.Arg958Trp) c.*1478C>T (n.*1478C>T) c.1129C>T (p.Arg377Trp) c.2899C>T (p.Arg967Trp) n.2914C>T c.412C>T (p.Arg138Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68416373G>A | CA6149779 | LRP5 | c.2873G>A (p.Arg958Gln) c.*1479G>A (n.*1479G>A) c.1130G>A (p.Arg377Gln) c.2900G>A (p.Arg967Gln) n.2915G>A c.413G>A (p.Arg138Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68416373G>C | CA381619723 | LRP5 | c.2873G>C (p.Arg958Pro) c.*1479G>C (n.*1479G>C) c.1130G>C (p.Arg377Pro) c.2900G>C (p.Arg967Pro) n.2915G>C c.413G>C (p.Arg138Pro) | |
| 11 | g.68416373G= | CA1980600547 | LRP5 | c.2873G= (p.Arg958=) c.*1479G= (n.*1479G=) c.1130G= (p.Arg377=) c.2900G= (p.Arg967=) n.2915G= c.413G= (p.Arg138=) | |
| 11 | g.68416373G>T | CA381619724 | LRP5 | c.2873G>T (p.Arg958Leu) c.*1479G>T (n.*1479G>T) c.1130G>T (p.Arg377Leu) c.2900G>T (p.Arg967Leu) n.2915G>T c.413G>T (p.Arg138Leu) | |
| 11 | g.68416374G>A | CA475463425 | LRP5 | c.2874G>A (p.Arg958=) c.*1480G>A (n.*1480G>A) c.1131G>A (p.Arg377=) c.2901G>A (p.Arg967=) n.2916G>A c.414G>A (p.Arg138=) | |
| 11 | g.68416374G>C | CA475463426 | LRP5 | c.2874G>C (p.Arg958=) c.*1480G>C (n.*1480G>C) c.1131G>C (p.Arg377=) c.2901G>C (p.Arg967=) n.2916G>C c.414G>C (p.Arg138=) | |
| 11 | g.68416374G>T | CA475463427 | LRP5 | c.2874G>T (p.Arg958=) c.*1480G>T (n.*1480G>T) c.1131G>T (p.Arg377=) c.2901G>T (p.Arg967=) n.2916G>T c.414G>T (p.Arg138=) | |
| 11 | g.68416375A= | CA1980600551 | LRP5 | c.2875A= (p.Met959=) c.*1481A= (n.*1481A=) c.1132A= (p.Met378=) c.2902A= (p.Met968=) n.2917A= c.415A= (p.Met139=) | |
| 11 | g.68416375A>C | CA381619727 | LRP5 | c.2875A>C (p.Met959Leu) c.*1481A>C (n.*1481A>C) c.1132A>C (p.Met378Leu) c.2902A>C (p.Met968Leu) n.2917A>C c.415A>C (p.Met139Leu) | |
| 11 | g.68416375A>G | CA381619725 | LRP5 | c.2875A>G (p.Met959Val) c.*1481A>G (n.*1481A>G) c.1132A>G (p.Met378Val) c.2902A>G (p.Met968Val) n.2917A>G c.415A>G (p.Met139Val) | dbSNP gnomAD v4 |
| 11 | g.68416375A>T | CA381619726 | LRP5 | c.2875A>T (p.Met959Leu) c.*1481A>T (n.*1481A>T) c.1132A>T (p.Met378Leu) c.2902A>T (p.Met968Leu) n.2917A>T c.415A>T (p.Met139Leu) | |
| 11 | g.68416376T>A | CA381619728 | LRP5 | c.2876T>A (p.Met959Lys) c.*1482T>A (n.*1482T>A) c.1133T>A (p.Met378Lys) c.2903T>A (p.Met968Lys) n.2918T>A c.416T>A (p.Met139Lys) | gnomAD v4 |
| 11 | g.68416376T>C | CA6149780 | LRP5 | c.2876T>C (p.Met959Thr) c.*1482T>C (n.*1482T>C) c.1133T>C (p.Met378Thr) c.2903T>C (p.Met968Thr) n.2918T>C c.416T>C (p.Met139Thr) | dbSNP ExAC gnomAD v2 |
| 11 | g.68416376T>G | CA381619729 | LRP5 | c.2876T>G (p.Met959Arg) c.*1482T>G (n.*1482T>G) c.1133T>G (p.Met378Arg) c.2903T>G (p.Met968Arg) n.2918T>G c.416T>G (p.Met139Arg) | |
| 11 | g.68416376T= | CA1980600554 | LRP5 | c.2876T= (p.Met959=) c.*1482T= (n.*1482T=) c.1133T= (p.Met378=) c.2903T= (p.Met968=) n.2918T= c.416T= (p.Met139=) | |
| 11 | g.68416377G>A | CA381619730 | LRP5 | c.2877G>A (p.Met959Ile) c.*1483G>A (n.*1483G>A) c.1134G>A (p.Met378Ile) c.2904G>A (p.Met968Ile) n.2919G>A c.417G>A (p.Met139Ile) | gnomAD v4 |
| 11 | g.68416377G>C | CA381619731 | LRP5 | c.2877G>C (p.Met959Ile) c.*1483G>C (n.*1483G>C) c.1134G>C (p.Met378Ile) c.2904G>C (p.Met968Ile) n.2919G>C c.417G>C (p.Met139Ile) | |
| 11 | g.68416377G>T | CA381619732 | LRP5 | c.2877G>T (p.Met959Ile) c.*1483G>T (n.*1483G>T) c.1134G>T (p.Met378Ile) c.2904G>T (p.Met968Ile) n.2919G>T c.417G>T (p.Met139Ile) | |
| 11 | g.68416378A>C | CA381619733 | LRP5 | c.2878A>C (p.Ile960Leu) c.*1484A>C (n.*1484A>C) c.1135A>C (p.Ile379Leu) c.2905A>C (p.Ile969Leu) n.2920A>C c.418A>C (p.Ile140Leu) | |
| 11 | g.68416378A>G | CA381619734 | LRP5 | c.2878A>G (p.Ile960Val) c.*1484A>G (n.*1484A>G) c.1135A>G (p.Ile379Val) c.2905A>G (p.Ile969Val) n.2920A>G c.418A>G (p.Ile140Val) | |
| 11 | g.68416378A>T | CA381619735 | LRP5 | c.2878A>T (p.Ile960Phe) c.*1484A>T (n.*1484A>T) c.1135A>T (p.Ile379Phe) c.2905A>T (p.Ile969Phe) n.2920A>T c.418A>T (p.Ile140Phe) | |
| 11 | g.68416379T>A | CA381619736 | LRP5 | c.2879T>A (p.Ile960Asn) c.*1485T>A (n.*1485T>A) c.1136T>A (p.Ile379Asn) c.2906T>A (p.Ile969Asn) n.2921T>A c.419T>A (p.Ile140Asn) | |
| 11 | g.68416379T>C | CA381619737 | LRP5 | c.2879T>C (p.Ile960Thr) c.*1485T>C (n.*1485T>C) c.1136T>C (p.Ile379Thr) c.2906T>C (p.Ile969Thr) n.2921T>C c.419T>C (p.Ile140Thr) | gnomAD v4 |
| 11 | g.68416379T>G | CA381619738 | LRP5 | c.2879T>G (p.Ile960Ser) c.*1485T>G (n.*1485T>G) c.1136T>G (p.Ile379Ser) c.2906T>G (p.Ile969Ser) n.2921T>G c.419T>G (p.Ile140Ser) | |
| 11 | g.68416380C>A | CA475463430 | LRP5 | c.2880C>A (p.Ile960=) c.*1486C>A (n.*1486C>A) c.1137C>A (p.Ile379=) c.2907C>A (p.Ile969=) n.2922C>A c.420C>A (p.Ile140=) | |
| 11 | g.68416380C>G | CA381619739 | LRP5 | c.2880C>G (p.Ile960Met) c.*1486C>G (n.*1486C>G) c.1137C>G (p.Ile379Met) c.2907C>G (p.Ile969Met) n.2922C>G c.420C>G (p.Ile140Met) | |
| 11 | g.68416380C>T | CA475463431 | LRP5 | c.2880C>T (p.Ile960=) c.*1486C>T (n.*1486C>T) c.1137C>T (p.Ile379=) c.2907C>T (p.Ile969=) n.2922C>T c.420C>T (p.Ile140=) | gnomAD v4 |
| 11 | g.68416381C>A | CA381619742 | LRP5 | c.2881C>A (p.Pro961Thr) c.*1487C>A (n.*1487C>A) c.1138C>A (p.Pro380Thr) c.2908C>A (p.Pro970Thr) n.2923C>A c.421C>A (p.Pro141Thr) | |
| 11 | g.68416381C>G | CA381619740 | LRP5 | c.2881C>G (p.Pro961Ala) c.*1487C>G (n.*1487C>G) c.1138C>G (p.Pro380Ala) c.2908C>G (p.Pro970Ala) n.2923C>G c.421C>G (p.Pro141Ala) | |
| 11 | g.68416381C>T | CA381619741 | LRP5 | c.2881C>T (p.Pro961Ser) c.*1487C>T (n.*1487C>T) c.1138C>T (p.Pro380Ser) c.2908C>T (p.Pro970Ser) n.2923C>T c.421C>T (p.Pro141Ser) | |
| 11 | g.68416382C>A | CA6149781 | LRP5 | c.2882C>A (p.Pro961Gln) c.*1488C>A (n.*1488C>A) c.1139C>A (p.Pro380Gln) c.2909C>A (p.Pro970Gln) n.2924C>A c.422C>A (p.Pro141Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68416382C= | CA1980600558 | LRP5 | c.2882C= (p.Pro961=) c.*1488C= (n.*1488C=) c.1139C= (p.Pro380=) c.2909C= (p.Pro970=) n.2924C= c.422C= (p.Pro141=) | |
| 11 | g.68416382C>G | CA381619743 | LRP5 | c.2882C>G (p.Pro961Arg) c.*1488C>G (n.*1488C>G) c.1139C>G (p.Pro380Arg) c.2909C>G (p.Pro970Arg) n.2924C>G c.422C>G (p.Pro141Arg) | |
| 11 | g.68416382C>T | CA6149782 | LRP5 | c.2882C>T (p.Pro961Leu) c.*1488C>T (n.*1488C>T) c.1139C>T (p.Pro380Leu) c.2909C>T (p.Pro970Leu) n.2924C>T c.422C>T (p.Pro141Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68416383G>A | CA6149783 | LRP5 | c.2883G>A (p.Pro961=) c.*1489G>A (n.*1489G>A) c.1140G>A (p.Pro380=) c.2910G>A (p.Pro970=) n.2925G>A c.423G>A (p.Pro141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68416383G>C | CA475463434 | LRP5 | c.2883G>C (p.Pro961=) c.*1489G>C (n.*1489G>C) c.1140G>C (p.Pro380=) c.2910G>C (p.Pro970=) n.2925G>C c.423G>C (p.Pro141=) | |
| 11 | g.68416383G= | CA1980600561 | LRP5 | c.2883G= (p.Pro961=) c.*1489G= (n.*1489G=) c.1140G= (p.Pro380=) c.2910G= (p.Pro970=) n.2925G= c.423G= (p.Pro141=) | |
| 11 | g.68416383G>T | CA475463435 | LRP5 | c.2883G>T (p.Pro961=) c.*1489G>T (n.*1489G>T) c.1140G>T (p.Pro380=) c.2910G>T (p.Pro970=) n.2925G>T c.423G>T (p.Pro141=) | COSMIC |
| 11 | g.68416384G>A | CA381619744 | LRP5 | c.2884G>A (p.Asp962Asn) c.*1490G>A (n.*1490G>A) c.1141G>A (p.Asp381Asn) c.2911G>A (p.Asp971Asn) n.2926G>A c.424G>A (p.Asp142Asn) | |
| 11 | g.68416384G>C | CA381619745 | LRP5 | c.2884G>C (p.Asp962His) c.*1490G>C (n.*1490G>C) c.1141G>C (p.Asp381His) c.2911G>C (p.Asp971His) n.2926G>C c.424G>C (p.Asp142His) | |
| 11 | g.68416384G>T | CA381619746 | LRP5 | c.2884G>T (p.Asp962Tyr) c.*1490G>T (n.*1490G>T) c.1141G>T (p.Asp381Tyr) c.2911G>T (p.Asp971Tyr) n.2926G>T c.424G>T (p.Asp142Tyr) | |
| 11 | g.68416385A>C | CA381619747 | LRP5 | c.2885A>C (p.Asp962Ala) c.*1491A>C (n.*1491A>C) c.1142A>C (p.Asp381Ala) c.2912A>C (p.Asp971Ala) n.2927A>C c.425A>C (p.Asp142Ala) | |
| 11 | g.68416385A>G | CA381619748 | LRP5 | c.2885A>G (p.Asp962Gly) c.*1491A>G (n.*1491A>G) c.1142A>G (p.Asp381Gly) c.2912A>G (p.Asp971Gly) n.2927A>G c.425A>G (p.Asp142Gly) | |
| 11 | g.68416385A>T | CA381619749 | LRP5 | c.2885A>T (p.Asp962Val) c.*1491A>T (n.*1491A>T) c.1142A>T (p.Asp381Val) c.2912A>T (p.Asp971Val) n.2927A>T c.425A>T (p.Asp142Val) | |
| 11 | g.68416386C>A | CA381619750 | LRP5 | c.2886C>A (p.Asp962Glu) c.*1492C>A (n.*1492C>A) c.1143C>A (p.Asp381Glu) c.2913C>A (p.Asp971Glu) n.2928C>A c.426C>A (p.Asp142Glu) | |
| 11 | g.68416386C= | CA1980600566 | LRP5 | c.2886C= (p.Asp962=) c.*1492C= (n.*1492C=) c.1143C= (p.Asp381=) c.2913C= (p.Asp971=) n.2928C= c.426C= (p.Asp142=) | |
| 11 | g.68416386C>G | CA381619751 | LRP5 | c.2886C>G (p.Asp962Glu) c.*1492C>G (n.*1492C>G) c.1143C>G (p.Asp381Glu) c.2913C>G (p.Asp971Glu) n.2928C>G c.426C>G (p.Asp142Glu) | |
| 11 | g.68416386C>T | CA6149784 | LRP5 | c.2886C>T (p.Asp962=) c.*1492C>T (n.*1492C>T) c.1143C>T (p.Asp381=) c.2913C>T (p.Asp971=) n.2928C>T c.426C>T (p.Asp142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68416387G>A | CA6149785 | LRP5 | c.2887G>A (p.Asp963Asn) c.*1493G>A (n.*1493G>A) c.1144G>A (p.Asp382Asn) c.2914G>A (p.Asp972Asn) n.2929G>A c.427G>A (p.Asp143Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68416387G>C | CA381619753 | LRP5 | c.2887G>C (p.Asp963His) c.*1493G>C (n.*1493G>C) c.1144G>C (p.Asp382His) c.2914G>C (p.Asp972His) n.2929G>C c.427G>C (p.Asp143His) | |
| 11 | g.68416387G= | CA1980600572 | LRP5 | c.2887G= (p.Asp963=) c.*1493G= (n.*1493G=) c.1144G= (p.Asp382=) c.2914G= (p.Asp972=) n.2929G= c.427G= (p.Asp143=) | |
| 11 | g.68416387G>T | CA381619752 | LRP5 | c.2887G>T (p.Asp963Tyr) c.*1493G>T (n.*1493G>T) c.1144G>T (p.Asp382Tyr) c.2914G>T (p.Asp972Tyr) n.2929G>T c.427G>T (p.Asp143Tyr) | gnomAD v4 |
| 11 | g.68416388A>C | CA381619754 | LRP5 | c.2888A>C (p.Asp963Ala) c.*1494A>C (n.*1494A>C) c.1145A>C (p.Asp382Ala) c.2915A>C (p.Asp972Ala) n.2930A>C c.428A>C (p.Asp143Ala) | |
| 11 | g.68416388A>G | CA381619755 | LRP5 | c.2888A>G (p.Asp963Gly) c.*1494A>G (n.*1494A>G) c.1145A>G (p.Asp382Gly) c.2915A>G (p.Asp972Gly) n.2930A>G c.428A>G (p.Asp143Gly) | |
| 11 | g.68416388A>T | CA381619756 | LRP5 | c.2888A>T (p.Asp963Val) c.*1494A>T (n.*1494A>T) c.1145A>T (p.Asp382Val) c.2915A>T (p.Asp972Val) n.2930A>T c.428A>T (p.Asp143Val) | |
| 11 | g.68416389C>A | CA381619757 | LRP5 | c.2889C>A (p.Asp963Glu) c.*1495C>A (n.*1495C>A) c.1146C>A (p.Asp382Glu) c.2916C>A (p.Asp972Glu) n.2931C>A c.429C>A (p.Asp143Glu) | |
| 11 | g.68416389C>G | CA381619758 | LRP5 | c.2889C>G (p.Asp963Glu) c.*1495C>G (n.*1495C>G) c.1146C>G (p.Asp382Glu) c.2916C>G (p.Asp972Glu) n.2931C>G c.429C>G (p.Asp143Glu) | |
| 11 | g.68416389C>T | CA475463439 | LRP5 | c.2889C>T (p.Asp963=) c.*1495C>T (n.*1495C>T) c.1146C>T (p.Asp382=) c.2916C>T (p.Asp972=) n.2931C>T c.429C>T (p.Asp143=) | |
| 11 | g.68416390C>A | CA381619759 | LRP5 | c.2890C>A (p.Gln964Lys) c.*1496C>A (n.*1496C>A) c.1147C>A (p.Gln383Lys) c.2917C>A (p.Gln973Lys) n.2932C>A c.430C>A (p.Gln144Lys) | |
| 11 | g.68416390C>G | CA381619760 | LRP5 | c.2890C>G (p.Gln964Glu) c.*1496C>G (n.*1496C>G) c.1147C>G (p.Gln383Glu) c.2917C>G (p.Gln973Glu) n.2932C>G c.430C>G (p.Gln144Glu) | |
| 11 | g.68416390C>T | CA381619761 | LRP5 | c.2890C>T (p.Gln964Ter) c.*1496C>T (n.*1496C>T) c.1147C>T (p.Gln383Ter) c.2917C>T (p.Gln973Ter) n.2932C>T c.430C>T (p.Gln144Ter) | |
| 11 | g.68416391A>C | CA381619762 | LRP5 | c.2891A>C (p.Gln964Pro) c.*1497A>C (n.*1497A>C) c.1148A>C (p.Gln383Pro) c.2918A>C (p.Gln973Pro) n.2933A>C c.431A>C (p.Gln144Pro) | |
| 11 | g.68416391A>G | CA381619763 | LRP5 | c.2891A>G (p.Gln964Arg) c.*1497A>G (n.*1497A>G) c.1148A>G (p.Gln383Arg) c.2918A>G (p.Gln973Arg) n.2933A>G c.431A>G (p.Gln144Arg) | |
| 11 | g.68416391A>T | CA381619764 | LRP5 | c.2891A>T (p.Gln964Leu) c.*1497A>T (n.*1497A>T) c.1148A>T (p.Gln383Leu) c.2918A>T (p.Gln973Leu) n.2933A>T c.431A>T (p.Gln144Leu) | |
| 11 | g.68416392G>A | CA475463441 | LRP5 | c.2892G>A (p.Gln964=) c.*1498G>A (n.*1498G>A) c.1149G>A (p.Gln383=) c.2919G>A (p.Gln973=) n.2934G>A c.432G>A (p.Gln144=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68416392G>C | CA381619765 | LRP5 | c.2892G>C (p.Gln964His) c.*1498G>C (n.*1498G>C) c.1149G>C (p.Gln383His) c.2919G>C (p.Gln973His) n.2934G>C c.432G>C (p.Gln144His) | |
| 11 | g.68416392G= | CA1980600575 | LRP5 | c.2892G= (p.Gln964=) c.*1498G= (n.*1498G=) c.1149G= (p.Gln383=) c.2919G= (p.Gln973=) n.2934G= c.432G= (p.Gln144=) | |
| 11 | g.68416392G>T | CA381619766 | LRP5 | c.2892G>T (p.Gln964His) c.*1498G>T (n.*1498G>T) c.1149G>T (p.Gln383His) c.2919G>T (p.Gln973His) n.2934G>T c.432G>T (p.Gln144His) | |
| 11 | g.68416393C>A | CA381619768 | LRP5 | c.2893C>A (p.His965Asn) c.*1499C>A (n.*1499C>A) c.1150C>A (p.His384Asn) c.2920C>A (p.His974Asn) n.2935C>A c.433C>A (p.His145Asn) | |
| 11 | g.68416393C>G | CA381619769 | LRP5 | c.2893C>G (p.His965Asp) c.*1499C>G (n.*1499C>G) c.1150C>G (p.His384Asp) c.2920C>G (p.His974Asp) n.2935C>G c.433C>G (p.His145Asp) | |
| 11 | g.68416393C>T | CA381619767 | LRP5 | c.2893C>T (p.His965Tyr) c.*1499C>T (n.*1499C>T) c.1150C>T (p.His384Tyr) c.2920C>T (p.His974Tyr) n.2935C>T c.433C>T (p.His145Tyr) | |
| 11 | g.68416394A>C | CA381619770 | LRP5 | c.2894A>C (p.His965Pro) c.*1500A>C (n.*1500A>C) c.1151A>C (p.His384Pro) c.2921A>C (p.His974Pro) n.2936A>C c.434A>C (p.His145Pro) | |
| 11 | g.68416394A>G | CA381619771 | LRP5 | c.2894A>G (p.His965Arg) c.*1500A>G (n.*1500A>G) c.1151A>G (p.His384Arg) c.2921A>G (p.His974Arg) n.2936A>G c.434A>G (p.His145Arg) | |
| 11 | g.68416394A>T | CA381619772 | LRP5 | c.2894A>T (p.His965Leu) c.*1500A>T (n.*1500A>T) c.1151A>T (p.His384Leu) c.2921A>T (p.His974Leu) n.2936A>T c.434A>T (p.His145Leu) | |
| 11 | g.68416395C>A | CA381619773 | LRP5 | c.2895C>A (p.His965Gln) c.*1501C>A (n.*1501C>A) c.1152C>A (p.His384Gln) c.2922C>A (p.His974Gln) n.2937C>A c.435C>A (p.His145Gln) | |
| 11 | g.68416395C= | CA1980600579 | LRP5 | c.2895C= (p.His965=) c.*1501C= (n.*1501C=) c.1152C= (p.His384=) c.2922C= (p.His974=) n.2937C= c.435C= (p.His145=) | |
| 11 | g.68416395C>G | CA6149786 | LRP5 | c.2895C>G (p.His965Gln) c.*1501C>G (n.*1501C>G) c.1152C>G (p.His384Gln) c.2922C>G (p.His974Gln) n.2937C>G c.435C>G (p.His145Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68416395C>T | CA475463448 | LRP5 | c.2895C>T (p.His965=) c.*1501C>T (n.*1501C>T) c.1152C>T (p.His384=) c.2922C>T (p.His974=) n.2937C>T c.435C>T (p.His145=) | gnomAD v4 |
| 11 | g.68416396A= | CA1980600582 | LRP5 | c.2896A= (p.Ser966=) c.*1502A= (n.*1502A=) c.1153A= (p.Ser385=) c.2923A= (p.Ser975=) n.2938A= c.436A= (p.Ser146=) | |
| 11 | g.68416396A>C | CA6149787 | LRP5 | c.2896A>C (p.Ser966Arg) c.*1502A>C (n.*1502A>C) c.1153A>C (p.Ser385Arg) c.2923A>C (p.Ser975Arg) n.2938A>C c.436A>C (p.Ser146Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68416396A>G | CA381619774 | LRP5 | c.2896A>G (p.Ser966Gly) c.*1502A>G (n.*1502A>G) c.1153A>G (p.Ser385Gly) c.2923A>G (p.Ser975Gly) n.2938A>G c.436A>G (p.Ser146Gly) | |
| 11 | g.68416396A>T | CA381619775 | LRP5 | c.2896A>T (p.Ser966Cys) c.*1502A>T (n.*1502A>T) c.1153A>T (p.Ser385Cys) c.2923A>T (p.Ser975Cys) n.2938A>T c.436A>T (p.Ser146Cys) | |
| 11 | g.68416397G>A | CA381619776 | LRP5 | c.2897G>A (p.Ser966Asn) c.*1503G>A (n.*1503G>A) c.1154G>A (p.Ser385Asn) c.2924G>A (p.Ser975Asn) n.2939G>A c.437G>A (p.Ser146Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68416397G>C | CA381619777 | LRP5 | c.2897G>C (p.Ser966Thr) c.*1503G>C (n.*1503G>C) c.1154G>C (p.Ser385Thr) c.2924G>C (p.Ser975Thr) n.2939G>C c.437G>C (p.Ser146Thr) | |
| 11 | g.68416397G= | CA1980600584 | LRP5 | c.2897G= (p.Ser966=) c.*1503G= (n.*1503G=) c.1154G= (p.Ser385=) c.2924G= (p.Ser975=) n.2939G= c.437G= (p.Ser146=) | |
| 11 | g.68416397G>T | CA381619778 | LRP5 | c.2897G>T (p.Ser966Ile) c.*1503G>T (n.*1503G>T) c.1154G>T (p.Ser385Ile) c.2924G>T (p.Ser975Ile) n.2939G>T c.437G>T (p.Ser146Ile) | |
| 11 | g.68416398C>A | CA381619779 | LRP5 | c.2898C>A (p.Ser966Arg) c.*1504C>A (n.*1504C>A) c.1155C>A (p.Ser385Arg) c.2925C>A (p.Ser975Arg) n.2940C>A c.438C>A (p.Ser146Arg) | |
| 11 | g.68416398C>G | CA381619780 | LRP5 | c.2898C>G (p.Ser966Arg) c.*1504C>G (n.*1504C>G) c.1155C>G (p.Ser385Arg) c.2925C>G (p.Ser975Arg) n.2940C>G c.438C>G (p.Ser146Arg) | |
| 11 | g.68416398C>T | CA475463450 | LRP5 | c.2898C>T (p.Ser966=) c.*1504C>T (n.*1504C>T) c.1155C>T (p.Ser385=) c.2925C>T (p.Ser975=) n.2940C>T c.438C>T (p.Ser146=) | |
| 11 | g.68416399C>A | CA381619782 | LRP5 | c.2899C>A (p.Pro967Thr) c.*1505C>A (n.*1505C>A) c.1156C>A (p.Pro386Thr) c.2926C>A (p.Pro976Thr) n.2941C>A c.439C>A (p.Pro147Thr) | |
| 11 | g.68416399C= | CA1980600586 | LRP5 | c.2899C= (p.Pro967=) c.*1505C= (n.*1505C=) c.1156C= (p.Pro386=) c.2926C= (p.Pro976=) n.2941C= c.439C= (p.Pro147=) | |
| 11 | g.68416399C>G | CA224275857 | LRP5 | c.2899C>G (p.Pro967Ala) c.*1505C>G (n.*1505C>G) c.1156C>G (p.Pro386Ala) c.2926C>G (p.Pro976Ala) n.2941C>G c.439C>G (p.Pro147Ala) | dbSNP |
| 11 | g.68416399C>T | CA381619781 | LRP5 | c.2899C>T (p.Pro967Ser) c.*1505C>T (n.*1505C>T) c.1156C>T (p.Pro386Ser) c.2926C>T (p.Pro976Ser) n.2941C>T c.439C>T (p.Pro147Ser) | |
| 11 | g.68416400C>A | CA381619783 | LRP5 | c.2900C>A (p.Pro967Gln) c.*1506C>A (n.*1506C>A) c.1157C>A (p.Pro386Gln) c.2927C>A (p.Pro976Gln) n.2942C>A c.440C>A (p.Pro147Gln) | |
| 11 | g.68416400C= | CA1980600588 | LRP5 | c.2900C= (p.Pro967=) c.*1506C= (n.*1506C=) c.1157C= (p.Pro386=) c.2927C= (p.Pro976=) n.2942C= c.440C= (p.Pro147=) | |
| 11 | g.68416400C>G | CA381619784 | LRP5 | c.2900C>G (p.Pro967Arg) c.*1506C>G (n.*1506C>G) c.1157C>G (p.Pro386Arg) c.2927C>G (p.Pro976Arg) n.2942C>G c.440C>G (p.Pro147Arg) | |
| 11 | g.68416400C>T | CA224275861 | LRP5 | c.2900C>T (p.Pro967Leu) c.*1506C>T (n.*1506C>T) c.1157C>T (p.Pro386Leu) c.2927C>T (p.Pro976Leu) n.2942C>T c.440C>T (p.Pro147Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.68416401G>A | CA475463452 | LRP5 | c.2901G>A (p.Pro967=) c.*1507G>A (n.*1507G>A) c.1158G>A (p.Pro386=) c.2928G>A (p.Pro976=) n.2943G>A c.441G>A (p.Pro147=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68416401G>C | CA475463454 | LRP5 | c.2901G>C (p.Pro967=) c.*1507G>C (n.*1507G>C) c.1158G>C (p.Pro386=) c.2928G>C (p.Pro976=) n.2943G>C c.441G>C (p.Pro147=) | |
| 11 | g.68416401G= | CA1980600591 | LRP5 | c.2901G= (p.Pro967=) c.*1507G= (n.*1507G=) c.1158G= (p.Pro386=) c.2928G= (p.Pro976=) n.2943G= c.441G= (p.Pro147=) | |
| 11 | g.68416401G>T | CA475463455 | LRP5 | c.2901G>T (p.Pro967=) c.*1507G>T (n.*1507G>T) c.1158G>T (p.Pro386=) c.2928G>T (p.Pro976=) n.2943G>T c.441G>T (p.Pro147=) | |
| 11 | g.68416402G>A | CA381619785 | LRP5 | c.2902G>A (p.Asp968Asn) c.*1508G>A (n.*1508G>A) c.1159G>A (p.Asp387Asn) c.2929G>A (p.Asp977Asn) n.2944G>A c.442G>A (p.Asp148Asn) | dbSNP |
| 11 | g.68416402G>C | CA381619786 | LRP5 | c.2902G>C (p.Asp968His) c.*1508G>C (n.*1508G>C) c.1159G>C (p.Asp387His) c.2929G>C (p.Asp977His) n.2944G>C c.442G>C (p.Asp148His) | gnomAD v4 |
| 11 | g.68416402G= | CA1980600595 | LRP5 | c.2902G= (p.Asp968=) c.*1508G= (n.*1508G=) c.1159G= (p.Asp387=) c.2929G= (p.Asp977=) n.2944G= c.442G= (p.Asp148=) | |
| 11 | g.68416402G>T | CA381619787 | LRP5 | c.2902G>T (p.Asp968Tyr) c.*1508G>T (n.*1508G>T) c.1159G>T (p.Asp387Tyr) c.2929G>T (p.Asp977Tyr) n.2944G>T c.442G>T (p.Asp148Tyr) | |
| 11 | g.68416403A>C | CA381619788 | LRP5 | c.2903A>C (p.Asp968Ala) c.*1509A>C (n.*1509A>C) c.1160A>C (p.Asp387Ala) c.2930A>C (p.Asp977Ala) n.2945A>C c.443A>C (p.Asp148Ala) | |
| 11 | g.68416403A>G | CA381619789 | LRP5 | c.2903A>G (p.Asp968Gly) c.*1509A>G (n.*1509A>G) c.1160A>G (p.Asp387Gly) c.2930A>G (p.Asp977Gly) n.2945A>G c.443A>G (p.Asp148Gly) | |
| 11 | g.68416403A>T | CA381619790 | LRP5 | c.2903A>T (p.Asp968Val) c.*1509A>T (n.*1509A>T) c.1160A>T (p.Asp387Val) c.2930A>T (p.Asp977Val) n.2945A>T c.443A>T (p.Asp148Val) | |
| 11 | g.68416404T>A | CA381619791 | LRP5 | c.2904T>A (p.Asp968Glu) c.*1510T>A (n.*1510T>A) c.1161T>A (p.Asp387Glu) c.2931T>A (p.Asp977Glu) n.2946T>A c.444T>A (p.Asp148Glu) | |
| 11 | g.68416404T>C | CA475463457 | LRP5 | c.2904T>C (p.Asp968=) c.*1510T>C (n.*1510T>C) c.1161T>C (p.Asp387=) c.2931T>C (p.Asp977=) n.2946T>C c.444T>C (p.Asp148=) | |
| 11 | g.68416404T>G | CA381619792 | LRP5 | c.2904T>G (p.Asp968Glu) c.*1510T>G (n.*1510T>G) c.1161T>G (p.Asp387Glu) c.2931T>G (p.Asp977Glu) n.2946T>G c.444T>G (p.Asp148Glu) | |
| 11 | g.68416405C>A | CA381619793 | LRP5 | c.2905C>A (p.Leu969Ile) c.*1511C>A (n.*1511C>A) c.1162C>A (p.Leu388Ile) c.2932C>A (p.Leu978Ile) n.2947C>A c.445C>A (p.Leu149Ile) | |
| 11 | g.68416405C>G | CA381619794 | LRP5 | c.2905C>G (p.Leu969Val) c.*1511C>G (n.*1511C>G) c.1162C>G (p.Leu388Val) c.2932C>G (p.Leu978Val) n.2947C>G c.445C>G (p.Leu149Val) | gnomAD v4 |
| 11 | g.68416405C>T | CA381619795 | LRP5 | c.2905C>T (p.Leu969Phe) c.*1511C>T (n.*1511C>T) c.1162C>T (p.Leu388Phe) c.2932C>T (p.Leu978Phe) n.2947C>T c.445C>T (p.Leu149Phe) | |
| 11 | g.68416406T>A | CA381619797 | LRP5 | c.2906T>A (p.Leu969His) c.*1512T>A (n.*1512T>A) c.1163T>A (p.Leu388His) c.2933T>A (p.Leu978His) n.2948T>A c.446T>A (p.Leu149His) | |
| 11 | g.68416406T>C | CA381619798 | LRP5 | c.2906T>C (p.Leu969Pro) c.*1512T>C (n.*1512T>C) c.1163T>C (p.Leu388Pro) c.2933T>C (p.Leu978Pro) n.2948T>C c.446T>C (p.Leu149Pro) | |
| 11 | g.68416406T>G | CA381619796 | LRP5 | c.2906T>G (p.Leu969Arg) c.*1512T>G (n.*1512T>G) c.1163T>G (p.Leu388Arg) c.2933T>G (p.Leu978Arg) n.2948T>G c.446T>G (p.Leu149Arg) | |
| 11 | g.68416407C>A | CA475463459 | LRP5 | c.2907C>A (p.Leu969=) c.*1513C>A (n.*1513C>A) c.1164C>A (p.Leu388=) c.2934C>A (p.Leu978=) n.2949C>A c.447C>A (p.Leu149=) | |
| 11 | g.68416407C= | CA1980600597 | LRP5 | c.2907C= (p.Leu969=) c.*1513C= (n.*1513C=) c.1164C= (p.Leu388=) c.2934C= (p.Leu978=) n.2949C= c.447C= (p.Leu149=) | |
| 11 | g.68416407C>G | CA475463462 | LRP5 | c.2907C>G (p.Leu969=) c.*1513C>G (n.*1513C>G) c.1164C>G (p.Leu388=) c.2934C>G (p.Leu978=) n.2949C>G c.447C>G (p.Leu149=) | |
| 11 | g.68416407C>T | CA475463461 | LRP5 | c.2907C>T (p.Leu969=) c.*1513C>T (n.*1513C>T) c.1164C>T (p.Leu388=) c.2934C>T (p.Leu978=) n.2949C>T c.447C>T (p.Leu149=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68416408A>C | CA381619799 | LRP5 | c.2908A>C (p.Ile970Leu) c.*1514A>C (n.*1514A>C) c.1165A>C (p.Ile389Leu) c.2935A>C (p.Ile979Leu) n.2950A>C c.448A>C (p.Ile150Leu) | gnomAD v4 |
| 11 | g.68416408A>G | CA381619800 | LRP5 | c.2908A>G (p.Ile970Val) c.*1514A>G (n.*1514A>G) c.1165A>G (p.Ile389Val) c.2935A>G (p.Ile979Val) n.2950A>G c.448A>G (p.Ile150Val) | |
| 11 | g.68416408A>T | CA381619801 | LRP5 | c.2908A>T (p.Ile970Phe) c.*1514A>T (n.*1514A>T) c.1165A>T (p.Ile389Phe) c.2935A>T (p.Ile979Phe) n.2950A>T c.448A>T (p.Ile150Phe) | gnomAD v4 |
| 11 | g.68416409T>A | CA381619802 | LRP5 | c.2909T>A (p.Ile970Asn) c.*1515T>A (n.*1515T>A) c.1166T>A (p.Ile389Asn) c.2936T>A (p.Ile979Asn) n.2951T>A c.449T>A (p.Ile150Asn) | |
| 11 | g.68416409T>C | CA381619803 | LRP5 | c.2909T>C (p.Ile970Thr) c.*1515T>C (n.*1515T>C) c.1166T>C (p.Ile389Thr) c.2936T>C (p.Ile979Thr) n.2951T>C c.449T>C (p.Ile150Thr) | |
| 11 | g.68416409T>G | CA381619804 | LRP5 | c.2909T>G (p.Ile970Ser) c.*1515T>G (n.*1515T>G) c.1166T>G (p.Ile389Ser) c.2936T>G (p.Ile979Ser) n.2951T>G c.449T>G (p.Ile150Ser) | |
| 11 | g.68416410C>A | CA475463464 | LRP5 | c.2910C>A (p.Ile970=) c.*1516C>A (n.*1516C>A) c.1167C>A (p.Ile389=) c.2937C>A (p.Ile979=) n.2952C>A c.450C>A (p.Ile150=) | |
| 11 | g.68416410C= | CA1980600600 | LRP5 | c.2910C= (p.Ile970=) c.*1516C= (n.*1516C=) c.1167C= (p.Ile389=) c.2937C= (p.Ile979=) n.2952C= c.450C= (p.Ile150=) | |
| 11 | g.68416410C>G | CA381619805 | LRP5 | c.2910C>G (p.Ile970Met) c.*1516C>G (n.*1516C>G) c.1167C>G (p.Ile389Met) c.2937C>G (p.Ile979Met) n.2952C>G c.450C>G (p.Ile150Met) | |
| 11 | g.68416410C>T | CA6149788 | LRP5 | c.2910C>T (p.Ile970=) c.*1516C>T (n.*1516C>T) c.1167C>T (p.Ile389=) c.2937C>T (p.Ile979=) n.2952C>T c.450C>T (p.Ile150=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68416411C>A | CA381619806 | LRP5 | c.2911C>A (p.Leu971Met) c.*1517C>A (n.*1517C>A) c.1168C>A (p.Leu390Met) c.2938C>A (p.Leu980Met) n.2953C>A c.451C>A (p.Leu151Met) | |
| 11 | g.68416411C>G | CA381619807 | LRP5 | c.2911C>G (p.Leu971Val) c.*1517C>G (n.*1517C>G) c.1168C>G (p.Leu390Val) c.2938C>G (p.Leu980Val) n.2953C>G c.451C>G (p.Leu151Val) | |
| 11 | g.68416411C>T | CA475463467 | LRP5 | c.2911C>T (p.Leu971=) c.*1517C>T (n.*1517C>T) c.1168C>T (p.Leu390=) c.2938C>T (p.Leu980=) n.2953C>T c.451C>T (p.Leu151=) | |
| 11 | g.68416412T>A | CA381619808 | LRP5 | c.2912T>A (p.Leu971Gln) c.*1518T>A (n.*1518T>A) c.1169T>A (p.Leu390Gln) c.2939T>A (p.Leu980Gln) n.2954T>A c.452T>A (p.Leu151Gln) | |
| 11 | g.68416412T>C | CA381619809 | LRP5 | c.2912T>C (p.Leu971Pro) c.*1518T>C (n.*1518T>C) c.1169T>C (p.Leu390Pro) c.2939T>C (p.Leu980Pro) n.2954T>C c.452T>C (p.Leu151Pro) | |
| 11 | g.68416412T>G | CA381619810 | LRP5 | c.2912T>G (p.Leu971Arg) c.*1518T>G (n.*1518T>G) c.1169T>G (p.Leu390Arg) c.2939T>G (p.Leu980Arg) n.2954T>G c.452T>G (p.Leu151Arg) | |
| 11 | g.68416413G>A | CA475463469 | LRP5 | c.2913G>A (p.Leu971=) c.*1519G>A (n.*1519G>A) c.1170G>A (p.Leu390=) c.2940G>A (p.Leu980=) n.2955G>A c.453G>A (p.Leu151=) | |
| 11 | g.68416413G>C | CA475463470 | LRP5 | c.2913G>C (p.Leu971=) c.*1519G>C (n.*1519G>C) c.1170G>C (p.Leu390=) c.2940G>C (p.Leu980=) n.2955G>C c.453G>C (p.Leu151=) | |
| 11 | g.68416413G>T | CA475463471 | LRP5 | c.2913G>T (p.Leu971=) c.*1519G>T (n.*1519G>T) c.1170G>T (p.Leu390=) c.2940G>T (p.Leu980=) n.2955G>T c.453G>T (p.Leu151=) | |
| 11 | g.68416414C>A | CA6149789 | LRP5 | c.2914C>A (p.Pro972Thr) c.*1520C>A (n.*1520C>A) c.1171C>A (p.Pro391Thr) c.2941C>A (p.Pro981Thr) n.2956C>A c.454C>A (p.Pro152Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68416414C= | CA1980600602 | LRP5 | c.2914C= (p.Pro972=) c.*1520C= (n.*1520C=) c.1171C= (p.Pro391=) c.2941C= (p.Pro981=) n.2956C= c.454C= (p.Pro152=) | |
| 11 | g.68416414C>G | CA381619811 | LRP5 | c.2914C>G (p.Pro972Ala) c.*1520C>G (n.*1520C>G) c.1171C>G (p.Pro391Ala) c.2941C>G (p.Pro981Ala) n.2956C>G c.454C>G (p.Pro152Ala) | |
| 11 | g.68416414C>T | CA381619812 | LRP5 | c.2914C>T (p.Pro972Ser) c.*1520C>T (n.*1520C>T) c.1171C>T (p.Pro391Ser) c.2941C>T (p.Pro981Ser) n.2956C>T c.454C>T (p.Pro152Ser) | |
| 11 | g.68416415C>A | CA381619813 | LRP5 | c.2915C>A (p.Pro972His) c.*1521C>A (n.*1521C>A) c.1172C>A (p.Pro391His) c.2942C>A (p.Pro981His) n.2957C>A c.455C>A (p.Pro152His) | |
| 11 | g.68416415C>G | CA381619814 | LRP5 | c.2915C>G (p.Pro972Arg) c.*1521C>G (n.*1521C>G) c.1172C>G (p.Pro391Arg) c.2942C>G (p.Pro981Arg) n.2957C>G c.455C>G (p.Pro152Arg) | gnomAD v4 |
| 11 | g.68416415C>T | CA381619815 | LRP5 | c.2915C>T (p.Pro972Leu) c.*1521C>T (n.*1521C>T) c.1172C>T (p.Pro391Leu) c.2942C>T (p.Pro981Leu) n.2957C>T c.455C>T (p.Pro152Leu) | |
| 11 | g.68416416C>A | CA475463475 | LRP5 | c.2916C>A (p.Pro972=) c.*1522C>A (n.*1522C>A) c.1173C>A (p.Pro391=) c.2943C>A (p.Pro981=) n.2958C>A c.456C>A (p.Pro152=) | |
| 11 | g.68416416C>G | CA475463476 | LRP5 | c.2916C>G (p.Pro972=) c.*1522C>G (n.*1522C>G) c.1173C>G (p.Pro391=) c.2943C>G (p.Pro981=) n.2958C>G c.456C>G (p.Pro152=) | |
| 11 | g.68416416C>T | CA475463477 | LRP5 | c.2916C>T (p.Pro972=) c.*1522C>T (n.*1522C>T) c.1173C>T (p.Pro391=) c.2943C>T (p.Pro981=) n.2958C>T c.456C>T (p.Pro152=) | |
| 11 | g.68416417C>A | CA381619816 | LRP5 | c.2917C>A (p.Leu973Met) c.*1523C>A (n.*1523C>A) c.1174C>A (p.Leu392Met) c.2944C>A (p.Leu982Met) n.2959C>A c.457C>A (p.Leu153Met) | |
| 11 | g.68416417C>G | CA381619817 | LRP5 | c.2917C>G (p.Leu973Val) c.*1523C>G (n.*1523C>G) c.1174C>G (p.Leu392Val) c.2944C>G (p.Leu982Val) n.2959C>G c.457C>G (p.Leu153Val) | gnomAD v4 |
| 11 | g.68416417C>T | CA475463478 | LRP5 | c.2917C>T (p.Leu973=) c.*1523C>T (n.*1523C>T) c.1174C>T (p.Leu392=) c.2944C>T (p.Leu982=) n.2959C>T c.457C>T (p.Leu153=) | |
| 11 | g.68416418T>A | CA381619818 | LRP5 | c.2918T>A (p.Leu973Gln) c.*1524T>A (n.*1524T>A) c.1175T>A (p.Leu392Gln) c.2945T>A (p.Leu982Gln) n.2960T>A c.458T>A (p.Leu153Gln) | |
| 11 | g.68416418T>C | CA381619819 | LRP5 | c.2918T>C (p.Leu973Pro) c.*1524T>C (n.*1524T>C) c.1175T>C (p.Leu392Pro) c.2945T>C (p.Leu982Pro) n.2960T>C c.458T>C (p.Leu153Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68416418T>G | CA381619820 | LRP5 | c.2918T>G (p.Leu973Arg) c.*1524T>G (n.*1524T>G) c.1175T>G (p.Leu392Arg) c.2945T>G (p.Leu982Arg) n.2960T>G c.458T>G (p.Leu153Arg) | gnomAD v4 |
| 11 | g.68416418T= | CA1980600606 | LRP5 | c.2918T= (p.Leu973=) c.*1524T= (n.*1524T=) c.1175T= (p.Leu392=) c.2945T= (p.Leu982=) n.2960T= c.458T= (p.Leu153=) | |
| 11 | g.68416419G>A | CA475463479 | LRP5 | c.2919G>A (p.Leu973=) c.*1525G>A (n.*1525G>A) c.1176G>A (p.Leu392=) c.2946G>A (p.Leu982=) n.2961G>A c.459G>A (p.Leu153=) | |
| 11 | g.68416419G>C | CA475463481 | LRP5 | c.2919G>C (p.Leu973=) c.*1525G>C (n.*1525G>C) c.1176G>C (p.Leu392=) c.2946G>C (p.Leu982=) n.2961G>C c.459G>C (p.Leu153=) | |
| 11 | g.68416419G>T | CA475463480 | LRP5 | c.2919G>T (p.Leu973=) c.*1525G>T (n.*1525G>T) c.1176G>T (p.Leu392=) c.2946G>T (p.Leu982=) n.2961G>T c.459G>T (p.Leu153=) | COSMIC |
| 11 | g.68416420C>A | CA381619821 | LRP5 | c.2920C>A (p.His974Asn) c.*1526C>A (n.*1526C>A) c.1177C>A (p.His393Asn) c.2947C>A (p.His983Asn) n.2962C>A c.460C>A (p.His154Asn) | |
| 11 | g.68416420C>G | CA381619822 | LRP5 | c.2920C>G (p.His974Asp) c.*1526C>G (n.*1526C>G) c.1177C>G (p.His393Asp) c.2947C>G (p.His983Asp) n.2962C>G c.460C>G (p.His154Asp) | |
| 11 | g.68416420C>T | CA381619823 | LRP5 | c.2920C>T (p.His974Tyr) c.*1526C>T (n.*1526C>T) c.1177C>T (p.His393Tyr) c.2947C>T (p.His983Tyr) n.2962C>T c.460C>T (p.His154Tyr) | |
| 11 | g.68416421A= | CA1980600610 | LRP5 | c.2921A= (p.His974=) c.*1527A= (n.*1527A=) c.1178A= (p.His393=) c.2948A= (p.His983=) n.2963A= c.461A= (p.His154=) | |
| 11 | g.68416421A>C | CA6149791 | LRP5 | c.2921A>C (p.His974Pro) c.*1527A>C (n.*1527A>C) c.1178A>C (p.His393Pro) c.2948A>C (p.His983Pro) n.2963A>C c.461A>C (p.His154Pro) | dbSNP ExAC gnomAD v2 |
| 11 | g.68416421A>G | CA6149790 | LRP5 | c.2921A>G (p.His974Arg) c.*1527A>G (n.*1527A>G) c.1178A>G (p.His393Arg) c.2948A>G (p.His983Arg) n.2963A>G c.461A>G (p.His154Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68416421A>T | CA381619824 | LRP5 | c.2921A>T (p.His974Leu) c.*1527A>T (n.*1527A>T) c.1178A>T (p.His393Leu) c.2948A>T (p.His983Leu) n.2963A>T c.461A>T (p.His154Leu) | |
| 11 | g.68416422T>A | CA381619825 | LRP5 | c.2922T>A (p.His974Gln) c.*1528T>A (n.*1528T>A) c.1179T>A (p.His393Gln) c.2949T>A (p.His983Gln) n.2964T>A c.462T>A (p.His154Gln) | |
| 11 | g.68416422T>C | CA475463483 | LRP5 | c.2922T>C (p.His974=) c.*1528T>C (n.*1528T>C) c.1179T>C (p.His393=) c.2949T>C (p.His983=) n.2964T>C c.462T>C (p.His154=) | ClinVar gnomAD v4 |
| 11 | g.68416422T>G | CA381619826 | LRP5 | c.2922T>G (p.His974Gln) c.*1528T>G (n.*1528T>G) c.1179T>G (p.His393Gln) c.2949T>G (p.His983Gln) n.2964T>G c.462T>G (p.His154Gln) | |
| 11 | g.68416423G>A | CA381619827 | LRP5 | c.2923G>A (p.Gly975Arg) c.*1529G>A (n.*1529G>A) c.1180G>A (p.Gly394Arg) c.2950G>A (p.Gly984Arg) n.2965G>A c.463G>A (p.Gly155Arg) | |
| 11 | g.68416423G>C | CA381619828 | LRP5 | c.2923G>C (p.Gly975Arg) c.*1529G>C (n.*1529G>C) c.1180G>C (p.Gly394Arg) c.2950G>C (p.Gly984Arg) n.2965G>C c.463G>C (p.Gly155Arg) | |
| 11 | g.68416423G>T | CA381619829 | LRP5 | c.2923G>T (p.Gly975Ter) c.*1529G>T (n.*1529G>T) c.1180G>T (p.Gly394Ter) c.2950G>T (p.Gly984Ter) n.2965G>T c.463G>T (p.Gly155Ter) | |
| 11 | g.68416424G>A | CA381619830 | LRP5 | c.2924G>A (p.Gly975Glu) c.*1530G>A (n.*1530G>A) c.1181G>A (p.Gly394Glu) c.2951G>A (p.Gly984Glu) n.2966G>A c.464G>A (p.Gly155Glu) | |
| 11 | g.68416424G>C | CA381619831 | LRP5 | c.2924G>C (p.Gly975Ala) c.*1530G>C (n.*1530G>C) c.1181G>C (p.Gly394Ala) c.2951G>C (p.Gly984Ala) n.2966G>C c.464G>C (p.Gly155Ala) | COSMIC |
| 11 | g.68416424G>T | CA381619832 | LRP5 | c.2924G>T (p.Gly975Val) c.*1530G>T (n.*1530G>T) c.1181G>T (p.Gly394Val) c.2951G>T (p.Gly984Val) n.2966G>T c.464G>T (p.Gly155Val) | |
| 11 | g.68416425A>C | CA475463484 | LRP5 | c.2925A>C (p.Gly975=) c.*1531A>C (n.*1531A>C) c.1182A>C (p.Gly394=) c.2952A>C (p.Gly984=) n.2967A>C c.465A>C (p.Gly155=) | |
| 11 | g.68416425A>G | CA475463485 | LRP5 | c.2925A>G (p.Gly975=) c.*1531A>G (n.*1531A>G) c.1182A>G (p.Gly394=) c.2952A>G (p.Gly984=) n.2967A>G c.465A>G (p.Gly155=) | |
| 11 | g.68416425A>T | CA475463486 | LRP5 | c.2925A>T (p.Gly975=) c.*1531A>T (n.*1531A>T) c.1182A>T (p.Gly394=) c.2952A>T (p.Gly984=) n.2967A>T c.465A>T (p.Gly155=) | |
| 11 | g.68416426C>A | CA381619833 | LRP5 | c.2926C>A (p.Leu976Met) c.*1532C>A (n.*1532C>A) c.1183C>A (p.Leu395Met) c.2953C>A (p.Leu985Met) n.2968C>A c.466C>A (p.Leu156Met) | |
| 11 | g.68416426C>G | CA381619834 | LRP5 | c.2926C>G (p.Leu976Val) c.*1532C>G (n.*1532C>G) c.1183C>G (p.Leu395Val) c.2953C>G (p.Leu985Val) n.2968C>G c.466C>G (p.Leu156Val) | gnomAD v4 |
| 11 | g.68416426C>T | CA475463487 | LRP5 | c.2926C>T (p.Leu976=) c.*1532C>T (n.*1532C>T) c.1183C>T (p.Leu395=) c.2953C>T (p.Leu985=) n.2968C>T c.466C>T (p.Leu156=) | |
| 11 | g.68416427T>A | CA381619835 | LRP5 | c.2927T>A (p.Leu976Gln) c.*1533T>A (n.*1533T>A) c.1184T>A (p.Leu395Gln) c.2954T>A (p.Leu985Gln) n.2969T>A c.467T>A (p.Leu156Gln) | |
| 11 | g.68416427T>C | CA381619836 | LRP5 | c.2927T>C (p.Leu976Pro) c.*1533T>C (n.*1533T>C) c.1184T>C (p.Leu395Pro) c.2954T>C (p.Leu985Pro) n.2969T>C c.467T>C (p.Leu156Pro) | dbSNP gnomAD v4 |
| 11 | g.68416427T>G | CA381619837 | LRP5 | c.2927T>G (p.Leu976Arg) c.*1533T>G (n.*1533T>G) c.1184T>G (p.Leu395Arg) c.2954T>G (p.Leu985Arg) n.2969T>G c.467T>G (p.Leu156Arg) | |
| 11 | g.68416427T= | CA1980600614 | LRP5 | c.2927T= (p.Leu976=) c.*1533T= (n.*1533T=) c.1184T= (p.Leu395=) c.2954T= (p.Leu985=) n.2969T= c.467T= (p.Leu156=) | |
| 11 | g.68416428G>A | CA475463489 | LRP5 | c.2928G>A (p.Leu976=) c.*1534G>A (n.*1534G>A) c.1185G>A (p.Leu395=) c.2955G>A (p.Leu985=) n.2970G>A c.468G>A (p.Leu156=) | |
| 11 | g.68416428G>C | CA475463490 | LRP5 | c.2928G>C (p.Leu976=) c.*1534G>C (n.*1534G>C) c.1185G>C (p.Leu395=) c.2955G>C (p.Leu985=) n.2970G>C c.468G>C (p.Leu156=) | |
| 11 | g.68416428G>T | CA475463491 | LRP5 | c.2928G>T (p.Leu976=) c.*1534G>T (n.*1534G>T) c.1185G>T (p.Leu395=) c.2955G>T (p.Leu985=) n.2970G>T c.468G>T (p.Leu156=) | gnomAD v4 |
| 11 | g.68416429A= | CA1980600619 | LRP5 | c.2929A= (p.Arg977=) c.*1535A= (n.*1535A=) c.1186A= (p.Arg396=) c.2956A= (p.Arg986=) n.2971A= c.469A= (p.Arg157=) | |
| 11 | g.68416429A>C | CA475463492 | LRP5 | c.2929A>C (p.Arg977=) c.*1535A>C (n.*1535A>C) c.1186A>C (p.Arg396=) c.2956A>C (p.Arg986=) n.2971A>C c.469A>C (p.Arg157=) | |
| 11 | g.68416429A>G | CA224275872 | LRP5 | c.2929A>G (p.Arg977Gly) c.*1535A>G (n.*1535A>G) c.1186A>G (p.Arg396Gly) c.2956A>G (p.Arg986Gly) n.2971A>G c.469A>G (p.Arg157Gly) | dbSNP |
| 11 | g.68416429A>T | CA381619838 | LRP5 | c.2929A>T (p.Arg977Trp) c.*1535A>T (n.*1535A>T) c.1186A>T (p.Arg396Trp) c.2956A>T (p.Arg986Trp) n.2971A>T c.469A>T (p.Arg157Trp) | |
| 11 | g.68416430G>A | CA381619841 | LRP5 | c.2930G>A (p.Arg977Lys) c.*1536G>A (n.*1536G>A) c.1187G>A (p.Arg396Lys) c.2957G>A (p.Arg986Lys) n.2972G>A c.470G>A (p.Arg157Lys) | gnomAD v4 |
| 11 | g.68416430G>C | CA381619840 | LRP5 | c.2930G>C (p.Arg977Thr) c.*1536G>C (n.*1536G>C) c.1187G>C (p.Arg396Thr) c.2957G>C (p.Arg986Thr) n.2972G>C c.470G>C (p.Arg157Thr) | |
| 11 | g.68416430G= | CA1980600621 | LRP5 | c.2930G= (p.Arg977=) c.*1536G= (n.*1536G=) c.1187G= (p.Arg396=) c.2957G= (p.Arg986=) n.2972G= c.470G= (p.Arg157=) | |
| 11 | g.68416430G>T | CA381619839 | LRP5 | c.2930G>T (p.Arg977Met) c.*1536G>T (n.*1536G>T) c.1187G>T (p.Arg396Met) c.2957G>T (p.Arg986Met) n.2972G>T c.470G>T (p.Arg157Met) | |
| 11 | g.68416430_68416431insTC | CA939140663 | LRP5 | c.2930_2931insTC (p.Arg977SerfsTer?) c.*1536_*1537insTC (n.*1536_*1537insTC) c.1187_1188insTC (p.Arg396SerfsTer?) c.2957_2958insTC (p.Arg986SerfsTer?) n.2972_2973insTC c.470_471insTC (p.Arg157SerfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68416431G>A | CA475463494 | LRP5 | c.2931G>A (p.Arg977=) c.*1537G>A (n.*1537G>A) c.1188G>A (p.Arg396=) c.2958G>A (p.Arg986=) n.2973G>A c.471G>A (p.Arg157=) | dbSNP gnomAD v4 |
| 11 | g.68416431G>C | CA381619842 | LRP5 | c.2931G>C (p.Arg977Ser) c.*1537G>C (n.*1537G>C) c.1188G>C (p.Arg396Ser) c.2958G>C (p.Arg986Ser) n.2973G>C c.471G>C (p.Arg157Ser) | dbSNP gnomAD v4 |
| 11 | g.68416431G= | CA1980600624 | LRP5 | c.2931G= (p.Arg977=) c.*1537G= (n.*1537G=) c.1188G= (p.Arg396=) c.2958G= (p.Arg986=) n.2973G= c.471G= (p.Arg157=) | |
| 11 | g.68416431G>T | CA381619843 | LRP5 | c.2931G>T (p.Arg977Ser) c.*1537G>T (n.*1537G>T) c.1188G>T (p.Arg396Ser) c.2958G>T (p.Arg986Ser) n.2973G>T c.471G>T (p.Arg157Ser) | |
| 11 | g.68416432A>C | CA381619844 | LRP5 | c.2932A>C (p.Asn978His) c.*1538A>C (n.*1538A>C) c.1189A>C (p.Asn397His) c.2959A>C (p.Asn987His) n.2974A>C c.472A>C (p.Asn158His) | |
| 11 | g.68416432A>G | CA381619845 | LRP5 | c.2932A>G (p.Asn978Asp) c.*1538A>G (n.*1538A>G) c.1189A>G (p.Asn397Asp) c.2959A>G (p.Asn987Asp) n.2974A>G c.472A>G (p.Asn158Asp) | |
| 11 | g.68416432A>T | CA381619846 | LRP5 | c.2932A>T (p.Asn978Tyr) c.*1538A>T (n.*1538A>T) c.1189A>T (p.Asn397Tyr) c.2959A>T (p.Asn987Tyr) n.2974A>T c.472A>T (p.Asn158Tyr) | |
| 11 | g.68416433A>C | CA381619847 | LRP5 | c.2933A>C (p.Asn978Thr) c.*1539A>C (n.*1539A>C) c.1190A>C (p.Asn397Thr) c.2960A>C (p.Asn987Thr) n.2975A>C c.473A>C (p.Asn158Thr) | |
| 11 | g.68416433A>G | CA381619848 | LRP5 | c.2933A>G (p.Asn978Ser) c.*1539A>G (n.*1539A>G) c.1190A>G (p.Asn397Ser) c.2960A>G (p.Asn987Ser) n.2975A>G c.473A>G (p.Asn158Ser) | |
| 11 | g.68416433A>T | CA381619849 | LRP5 | c.2933A>T (p.Asn978Ile) c.*1539A>T (n.*1539A>T) c.1190A>T (p.Asn397Ile) c.2960A>T (p.Asn987Ile) n.2975A>T c.473A>T (p.Asn158Ile) | gnomAD v3 gnomAD v4 |
| 11 | g.68416434C>A | CA381619850 | LRP5 | c.2934C>A (p.Asn978Lys) c.*1540C>A (n.*1540C>A) c.1191C>A (p.Asn397Lys) c.2961C>A (p.Asn987Lys) n.2976C>A c.474C>A (p.Asn158Lys) | |
| 11 | g.68416434C= | CA1980600627 | LRP5 | c.2934C= (p.Asn978=) c.*1540C= (n.*1540C=) c.1191C= (p.Asn397=) c.2961C= (p.Asn987=) n.2976C= c.474C= (p.Asn158=) | |
| 11 | g.68416434C>G | CA381619851 | LRP5 | c.2934C>G (p.Asn978Lys) c.*1540C>G (n.*1540C>G) c.1191C>G (p.Asn397Lys) c.2961C>G (p.Asn987Lys) n.2976C>G c.474C>G (p.Asn158Lys) | gnomAD v3 gnomAD v4 |
| 11 | g.68416434C>T | CA6149792 | LRP5 | c.2934C>T (p.Asn978=) c.*1540C>T (n.*1540C>T) c.1191C>T (p.Asn397=) c.2961C>T (p.Asn987=) n.2976C>T c.474C>T (p.Asn158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68416435G>A | CA224275884 | LRP5 | c.2935G>A (p.Val979Ile) c.*1541G>A (n.*1541G>A) c.1192G>A (p.Val398Ile) c.2962G>A (p.Val988Ile) n.2977G>A c.475G>A (p.Val159Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68416435G>C | CA381619852 | LRP5 | c.2935G>C (p.Val979Leu) c.*1541G>C (n.*1541G>C) c.1192G>C (p.Val398Leu) c.2962G>C (p.Val988Leu) n.2977G>C c.475G>C (p.Val159Leu) | |
| 11 | g.68416435G= | CA1980600634 | LRP5 | c.2935G= (p.Val979=) c.*1541G= (n.*1541G=) c.1192G= (p.Val398=) c.2962G= (p.Val988=) n.2977G= c.475G= (p.Val159=) | |
| 11 | g.68416435G>T | CA381619853 | LRP5 | c.2935G>T (p.Val979Phe) c.*1541G>T (n.*1541G>T) c.1192G>T (p.Val398Phe) c.2962G>T (p.Val988Phe) n.2977G>T c.475G>T (p.Val159Phe) | |
| 11 | g.68416436T>A | CA381619855 | LRP5 | c.2936T>A (p.Val979Asp) c.*1542T>A (n.*1542T>A) c.1193T>A (p.Val398Asp) c.2963T>A (p.Val988Asp) n.2978T>A c.476T>A (p.Val159Asp) | |
| 11 | g.68416436T>C | CA381619856 | LRP5 | c.2936T>C (p.Val979Ala) c.*1542T>C (n.*1542T>C) c.1193T>C (p.Val398Ala) c.2963T>C (p.Val988Ala) n.2978T>C c.476T>C (p.Val159Ala) | gnomAD v4 |
| 11 | g.68416436T>G | CA381619854 | LRP5 | c.2936T>G (p.Val979Gly) c.*1542T>G (n.*1542T>G) c.1193T>G (p.Val398Gly) c.2963T>G (p.Val988Gly) n.2978T>G c.476T>G (p.Val159Gly) | |
| 11 | g.68416437C>A | CA475463501 | LRP5 | c.2937C>A (p.Val979=) c.*1543C>A (n.*1543C>A) c.1194C>A (p.Val398=) c.2964C>A (p.Val988=) n.2979C>A c.477C>A (p.Val159=) | |
| 11 | g.68416437C>G | CA475463499 | LRP5 | c.2937C>G (p.Val979=) c.*1543C>G (n.*1543C>G) c.1194C>G (p.Val398=) c.2964C>G (p.Val988=) n.2979C>G c.477C>G (p.Val159=) | |
| 11 | g.68416437C>T | CA475463498 | LRP5 | c.2937C>T (p.Val979=) c.*1543C>T (n.*1543C>T) c.1194C>T (p.Val398=) c.2964C>T (p.Val988=) n.2979C>T c.477C>T (p.Val159=) | |
| 11 | g.68416438A>C | CA381619857 | LRP5 | c.2938A>C (p.Lys980Gln) c.*1544A>C (n.*1544A>C) c.1195A>C (p.Lys399Gln) c.2965A>C (p.Lys989Gln) n.2980A>C c.478A>C (p.Lys160Gln) | |
| 11 | g.68416438A>G | CA381619858 | LRP5 | c.2938A>G (p.Lys980Glu) c.*1544A>G (n.*1544A>G) c.1195A>G (p.Lys399Glu) c.2965A>G (p.Lys989Glu) n.2980A>G c.478A>G (p.Lys160Glu) | gnomAD v4 |
| 11 | g.68416438A>T | CA381619859 | LRP5 | c.2938A>T (p.Lys980Ter) c.*1544A>T (n.*1544A>T) c.1195A>T (p.Lys399Ter) c.2965A>T (p.Lys989Ter) n.2980A>T c.478A>T (p.Lys160Ter) | |
| 11 | g.68416439A= | CA1980600640 | LRP5 | c.2939A= (p.Lys980=) c.*1545A= (n.*1545A=) c.1196A= (p.Lys399=) c.2966A= (p.Lys989=) n.2981A= c.479A= (p.Lys160=) | |
| 11 | g.68416439A>C | CA381619860 | LRP5 | c.2939A>C (p.Lys980Thr) c.*1545A>C (n.*1545A>C) c.1196A>C (p.Lys399Thr) c.2966A>C (p.Lys989Thr) n.2981A>C c.479A>C (p.Lys160Thr) | |
| 11 | g.68416439A>G | CA381619861 | LRP5 | c.2939A>G (p.Lys980Arg) c.*1545A>G (n.*1545A>G) c.1196A>G (p.Lys399Arg) c.2966A>G (p.Lys989Arg) n.2981A>G c.479A>G (p.Lys160Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68416439A>T | CA381619862 | LRP5 | c.2939A>T (p.Lys980Ile) c.*1545A>T (n.*1545A>T) c.1196A>T (p.Lys399Ile) c.2966A>T (p.Lys989Ile) n.2981A>T c.479A>T (p.Lys160Ile) | |
| 11 | g.68416440A>C | CA381619864 | LRP5 | c.2940A>C (p.Lys980Asn) c.*1546A>C (n.*1546A>C) c.1197A>C (p.Lys399Asn) c.2967A>C (p.Lys989Asn) n.2982A>C c.480A>C (p.Lys160Asn) | |
| 11 | g.68416440A>G | CA475463502 | LRP5 | c.2940A>G (p.Lys980=) c.*1546A>G (n.*1546A>G) c.1197A>G (p.Lys399=) c.2967A>G (p.Lys989=) n.2982A>G c.480A>G (p.Lys160=) | |
| 11 | g.68416440A>T | CA381619863 | LRP5 | c.2940A>T (p.Lys980Asn) c.*1546A>T (n.*1546A>T) c.1197A>T (p.Lys399Asn) c.2967A>T (p.Lys989Asn) n.2982A>T c.480A>T (p.Lys160Asn) | |
| 11 | g.68416441G>A | CA381619865 | LRP5 | c.2941G>A (p.Ala981Thr) c.*1547G>A (n.*1547G>A) c.1198G>A (p.Ala400Thr) c.2968G>A (p.Ala990Thr) n.2983G>A c.481G>A (p.Ala161Thr) | |
| 11 | g.68416441G>C | CA381619866 | LRP5 | c.2941G>C (p.Ala981Pro) c.*1547G>C (n.*1547G>C) c.1198G>C (p.Ala400Pro) c.2968G>C (p.Ala990Pro) n.2983G>C c.481G>C (p.Ala161Pro) | |
| 11 | g.68416441G>T | CA381619867 | LRP5 | c.2941G>T (p.Ala981Ser) c.*1547G>T (n.*1547G>T) c.1198G>T (p.Ala400Ser) c.2968G>T (p.Ala990Ser) n.2983G>T c.481G>T (p.Ala161Ser) | |
| 11 | g.68416442C>A | CA381619868 | LRP5 | c.2942C>A (p.Ala981Asp) c.*1548C>A (n.*1548C>A) c.1199C>A (p.Ala400Asp) c.2969C>A (p.Ala990Asp) n.2984C>A c.482C>A (p.Ala161Asp) | |
| 11 | g.68416442C>G | CA381619869 | LRP5 | c.2942C>G (p.Ala981Gly) c.*1548C>G (n.*1548C>G) c.1199C>G (p.Ala400Gly) c.2969C>G (p.Ala990Gly) n.2984C>G c.482C>G (p.Ala161Gly) | |
| 11 | g.68416442C>T | CA381619870 | LRP5 | c.2942C>T (p.Ala981Val) c.*1548C>T (n.*1548C>T) c.1199C>T (p.Ala400Val) c.2969C>T (p.Ala990Val) n.2984C>T c.482C>T (p.Ala161Val) | |
| 11 | g.68416443C>A | CA475463504 | LRP5 | c.2943C>A (p.Ala981=) c.*1549C>A (n.*1549C>A) c.1200C>A (p.Ala400=) c.2970C>A (p.Ala990=) n.2985C>A c.483C>A (p.Ala161=) | |
| 11 | g.68416443C>G | CA475463506 | LRP5 | c.2943C>G (p.Ala981=) c.*1549C>G (n.*1549C>G) c.1200C>G (p.Ala400=) c.2970C>G (p.Ala990=) n.2985C>G c.483C>G (p.Ala161=) | |
| 11 | g.68416443C>T | CA475463505 | LRP5 | c.2943C>T (p.Ala981=) c.*1549C>T (n.*1549C>T) c.1200C>T (p.Ala400=) c.2970C>T (p.Ala990=) n.2985C>T c.483C>T (p.Ala161=) | ClinVar |
| 11 | g.68416444A>C | CA381619871 | LRP5 | c.2944A>C (p.Ile982Leu) c.*1550A>C (n.*1550A>C) c.1201A>C (p.Ile401Leu) c.2971A>C (p.Ile991Leu) n.2986A>C c.484A>C (p.Ile162Leu) | |
| 11 | g.68416444A>G | CA381619873 | LRP5 | c.2944A>G (p.Ile982Val) c.*1550A>G (n.*1550A>G) c.1201A>G (p.Ile401Val) c.2971A>G (p.Ile991Val) n.2986A>G c.484A>G (p.Ile162Val) | |
| 11 | g.68416444A>T | CA381619872 | LRP5 | c.2944A>T (p.Ile982Phe) c.*1550A>T (n.*1550A>T) c.1201A>T (p.Ile401Phe) c.2971A>T (p.Ile991Phe) n.2986A>T c.484A>T (p.Ile162Phe) | |
| 11 | g.68416445T>A | CA381619874 | LRP5 | c.2945T>A (p.Ile982Asn) c.*1551T>A (n.*1551T>A) c.1202T>A (p.Ile401Asn) c.2972T>A (p.Ile991Asn) n.2987T>A c.485T>A (p.Ile162Asn) | |
| 11 | g.68416445T>C | CA381619875 | LRP5 | c.2945T>C (p.Ile982Thr) c.*1551T>C (n.*1551T>C) c.1202T>C (p.Ile401Thr) c.2972T>C (p.Ile991Thr) n.2987T>C c.485T>C (p.Ile162Thr) | |
| 11 | g.68416445T>G | CA381619876 | LRP5 | c.2945T>G (p.Ile982Ser) c.*1551T>G (n.*1551T>G) c.1202T>G (p.Ile401Ser) c.2972T>G (p.Ile991Ser) n.2987T>G c.485T>G (p.Ile162Ser) | |
| 11 | g.68416446C>A | CA475463507 | LRP5 | c.2946C>A (p.Ile982=) c.*1552C>A (n.*1552C>A) c.1203C>A (p.Ile401=) c.2973C>A (p.Ile991=) n.2988C>A c.486C>A (p.Ile162=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68416446C= | CA1980600643 | LRP5 | c.2946C= (p.Ile982=) c.*1552C= (n.*1552C=) c.1203C= (p.Ile401=) c.2973C= (p.Ile991=) n.2988C= c.486C= (p.Ile162=) | |
| 11 | g.68416446C>G | CA381619877 | LRP5 | c.2946C>G (p.Ile982Met) c.*1552C>G (n.*1552C>G) c.1203C>G (p.Ile401Met) c.2973C>G (p.Ile991Met) n.2988C>G c.486C>G (p.Ile162Met) | |
| 11 | g.68416446C>T | CA6149793 | LRP5 | c.2946C>T (p.Ile982=) c.*1552C>T (n.*1552C>T) c.1203C>T (p.Ile401=) c.2973C>T (p.Ile991=) n.2988C>T c.486C>T (p.Ile162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68416447G>A | CA6149794 | LRP5 | c.2947G>A (p.Asp983Asn) c.*1553G>A (n.*1553G>A) c.1204G>A (p.Asp402Asn) c.2974G>A (p.Asp992Asn) n.2989G>A c.487G>A (p.Asp163Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68416447G>C | CA381619878 | LRP5 | c.2947G>C (p.Asp983His) c.*1553G>C (n.*1553G>C) c.1204G>C (p.Asp402His) c.2974G>C (p.Asp992His) n.2989G>C c.487G>C (p.Asp163His) | |
| 11 | g.68416447G= | CA1980600650 | LRP5 | c.2947G= (p.Asp983=) c.*1553G= (n.*1553G=) c.1204G= (p.Asp402=) c.2974G= (p.Asp992=) n.2989G= c.487G= (p.Asp163=) | |
| 11 | g.68416447G>T | CA381619879 | LRP5 | c.2947G>T (p.Asp983Tyr) c.*1553G>T (n.*1553G>T) c.1204G>T (p.Asp402Tyr) c.2974G>T (p.Asp992Tyr) n.2989G>T c.487G>T (p.Asp163Tyr) | gnomAD v4 |
| 11 | g.68416448A= | CA1980600653 | LRP5 | c.2948A= (p.Asp983=) c.*1554A= (n.*1554A=) c.1205A= (p.Asp402=) c.2975A= (p.Asp992=) n.2990A= c.488A= (p.Asp163=) | |
| 11 | g.68416448A>C | CA381619880 | LRP5 | c.2948A>C (p.Asp983Ala) c.*1554A>C (n.*1554A>C) c.1205A>C (p.Asp402Ala) c.2975A>C (p.Asp992Ala) n.2990A>C c.488A>C (p.Asp163Ala) | |
| 11 | g.68416448A>G | CA381619881 | LRP5 | c.2948A>G (p.Asp983Gly) c.*1554A>G (n.*1554A>G) c.1205A>G (p.Asp402Gly) c.2975A>G (p.Asp992Gly) n.2990A>G c.488A>G (p.Asp163Gly) | gnomAD v4 |
| 11 | g.68416448A>T | CA381619882 | LRP5 | c.2948A>T (p.Asp983Val) c.*1554A>T (n.*1554A>T) c.1205A>T (p.Asp402Val) c.2975A>T (p.Asp992Val) n.2990A>T c.488A>T (p.Asp163Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68416449C>A | CA381619883 | LRP5 | c.2949C>A (p.Asp983Glu) c.*1555C>A (n.*1555C>A) c.1206C>A (p.Asp402Glu) c.2976C>A (p.Asp992Glu) n.2991C>A c.489C>A (p.Asp163Glu) | |
| 11 | g.68416449C>G | CA381619884 | LRP5 | c.2949C>G (p.Asp983Glu) c.*1555C>G (n.*1555C>G) c.1206C>G (p.Asp402Glu) c.2976C>G (p.Asp992Glu) n.2991C>G c.489C>G (p.Asp163Glu) | |
| 11 | g.68416449C>T | CA475463508 | LRP5 | c.2949C>T (p.Asp983=) c.*1555C>T (n.*1555C>T) c.1206C>T (p.Asp402=) c.2976C>T (p.Asp992=) n.2991C>T c.489C>T (p.Asp163=) | |
| 11 | g.68416450T>A | CA381619885 | LRP5 | c.2950T>A (p.Tyr984Asn) c.*1556T>A (n.*1556T>A) c.1207T>A (p.Tyr403Asn) c.2977T>A (p.Tyr993Asn) n.2992T>A c.490T>A (p.Tyr164Asn) | |
| 11 | g.68416450T>C | CA381619886 | LRP5 | c.2950T>C (p.Tyr984His) c.*1556T>C (n.*1556T>C) c.1207T>C (p.Tyr403His) c.2977T>C (p.Tyr993His) n.2992T>C c.490T>C (p.Tyr164His) | |
| 11 | g.68416450T>G | CA381619887 | LRP5 | c.2950T>G (p.Tyr984Asp) c.*1556T>G (n.*1556T>G) c.1207T>G (p.Tyr403Asp) c.2977T>G (p.Tyr993Asp) n.2992T>G c.490T>G (p.Tyr164Asp) | |
| 11 | g.68416451A= | CA1980600655 | LRP5 | c.2951A= (p.Tyr984=) c.*1557A= (n.*1557A=) c.1208A= (p.Tyr403=) c.2978A= (p.Tyr993=) n.2993A= c.491A= (p.Tyr164=) | |
| 11 | g.68416451A>C | CA381619888 | LRP5 | c.2951A>C (p.Tyr984Ser) c.*1557A>C (n.*1557A>C) c.1208A>C (p.Tyr403Ser) c.2978A>C (p.Tyr993Ser) n.2993A>C c.491A>C (p.Tyr164Ser) | |
| 11 | g.68416451A>G | CA6149795 | LRP5 | c.2951A>G (p.Tyr984Cys) c.*1557A>G (n.*1557A>G) c.1208A>G (p.Tyr403Cys) c.2978A>G (p.Tyr993Cys) n.2993A>G c.491A>G (p.Tyr164Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68416451A>T | CA381619889 | LRP5 | c.2951A>T (p.Tyr984Phe) c.*1557A>T (n.*1557A>T) c.1208A>T (p.Tyr403Phe) c.2978A>T (p.Tyr993Phe) n.2993A>T c.491A>T (p.Tyr164Phe) | dbSNP |