UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68413742C>A | CA381618268 | LRP5 | c.2557C>A (p.Gln853Lys) c.*1163C>A (n.*1163C>A) c.814C>A (p.Gln272Lys) c.2584C>A (p.Gln862Lys) n.2599C>A c.97C>A (p.Gln33Lys) n.2823C>A | |
| 11 | g.68413742C= | CA1980597936 | LRP5 | c.2557C= (p.Gln853=) c.*1163C= (n.*1163C=) c.814C= (p.Gln272=) c.2584C= (p.Gln862=) n.2599C= c.97C= (p.Gln33=) n.2823C= | |
| 11 | g.68413742C>G | CA381618266 | LRP5 | c.2557C>G (p.Gln853Glu) c.*1163C>G (n.*1163C>G) c.814C>G (p.Gln272Glu) c.2584C>G (p.Gln862Glu) n.2599C>G c.97C>G (p.Gln33Glu) n.2823C>G | |
| 11 | g.68413742C>T | CA118087 | LRP5 | c.2557C>T (p.Gln853Ter) c.*1163C>T (n.*1163C>T) c.814C>T (p.Gln272Ter) c.2584C>T (p.Gln862Ter) n.2599C>T c.97C>T (p.Gln33Ter) n.2823C>T | ClinVar dbSNP |
| 11 | g.68413743A>C | CA381618270 | LRP5 | c.2558A>C (p.Gln853Pro) c.*1164A>C (n.*1164A>C) c.815A>C (p.Gln272Pro) c.2585A>C (p.Gln862Pro) n.2600A>C c.98A>C (p.Gln33Pro) n.2824A>C | gnomAD v4 |
| 11 | g.68413743A>G | CA381618272 | LRP5 | c.2558A>G (p.Gln853Arg) c.*1164A>G (n.*1164A>G) c.815A>G (p.Gln272Arg) c.2585A>G (p.Gln862Arg) n.2600A>G c.98A>G (p.Gln33Arg) n.2824A>G | |
| 11 | g.68413743A>T | CA381618275 | LRP5 | c.2558A>T (p.Gln853Leu) c.*1164A>T (n.*1164A>T) c.815A>T (p.Gln272Leu) c.2585A>T (p.Gln862Leu) n.2600A>T c.98A>T (p.Gln33Leu) n.2824A>T | |
| 11 | g.68413744G>A | CA475516550 | LRP5 | c.2559G>A (p.Gln853=) c.*1165G>A (n.*1165G>A) c.816G>A (p.Gln272=) c.2586G>A (p.Gln862=) n.2601G>A c.99G>A (p.Gln33=) n.2825G>A | |
| 11 | g.68413744G>C | CA381618277 | LRP5 | c.2559G>C (p.Gln853His) c.*1165G>C (n.*1165G>C) c.816G>C (p.Gln272His) c.2586G>C (p.Gln862His) n.2601G>C c.99G>C (p.Gln33His) n.2825G>C | |
| 11 | g.68413744G>T | CA381618279 | LRP5 | c.2559G>T (p.Gln853His) c.*1165G>T (n.*1165G>T) c.816G>T (p.Gln272His) c.2586G>T (p.Gln862His) n.2601G>T c.99G>T (p.Gln33His) n.2825G>T | |
| 11 | g.68413745T>A | CA381618282 | LRP5 | c.2560T>A (p.Tyr854Asn) c.*1166T>A (n.*1166T>A) c.817T>A (p.Tyr273Asn) c.2587T>A (p.Tyr863Asn) n.2602T>A c.100T>A (p.Tyr34Asn) n.2826T>A | |
| 11 | g.68413745T>C | CA381618284 | LRP5 | c.2560T>C (p.Tyr854His) c.*1166T>C (n.*1166T>C) c.817T>C (p.Tyr273His) c.2587T>C (p.Tyr863His) n.2602T>C c.100T>C (p.Tyr34His) n.2826T>C | |
| 11 | g.68413745T>G | CA381618285 | LRP5 | c.2560T>G (p.Tyr854Asp) c.*1166T>G (n.*1166T>G) c.817T>G (p.Tyr273Asp) c.2587T>G (p.Tyr863Asp) n.2602T>G c.100T>G (p.Tyr34Asp) n.2826T>G | |
| 11 | g.68413746A>C | CA381618288 | LRP5 | c.2561A>C (p.Tyr854Ser) c.*1167A>C (n.*1167A>C) c.818A>C (p.Tyr273Ser) c.2588A>C (p.Tyr863Ser) n.2603A>C c.101A>C (p.Tyr34Ser) n.2827A>C | |
| 11 | g.68413746A>G | CA381618289 | LRP5 | c.2561A>G (p.Tyr854Cys) c.*1167A>G (n.*1167A>G) c.818A>G (p.Tyr273Cys) c.2588A>G (p.Tyr863Cys) n.2603A>G c.101A>G (p.Tyr34Cys) n.2827A>G | |
| 11 | g.68413746A>T | CA381618291 | LRP5 | c.2561A>T (p.Tyr854Phe) c.*1167A>T (n.*1167A>T) c.818A>T (p.Tyr273Phe) c.2588A>T (p.Tyr863Phe) n.2603A>T c.101A>T (p.Tyr34Phe) n.2827A>T | |
| 11 | g.68413746_68413747insT | CA2614714597 | LRP5 | c.2561_2562insT (p.Ser855GlnfsTer15) c.*1167_*1168insT (n.*1167_*1168insT) c.818_819insT (p.Ser274GlnfsTer15) c.2588_2589insT (p.Ser864GlnfsTer15) n.2603_2604insT c.101_102insT (p.Ser35GlnfsTer15) n.2827_2828insT | gnomAD v4 |
| 11 | g.68413747C>A | CA381618292 | LRP5 | c.2562C>A (p.Tyr854Ter) c.*1168C>A (n.*1168C>A) c.819C>A (p.Tyr273Ter) c.2589C>A (p.Tyr863Ter) n.2604C>A c.102C>A (p.Tyr34Ter) n.2828C>A | |
| 11 | g.68413747C= | CA1980597940 | LRP5 | c.2562C= (p.Tyr854=) c.*1168C= (n.*1168C=) c.819C= (p.Tyr273=) c.2589C= (p.Tyr863=) n.2604C= c.102C= (p.Tyr34=) n.2828C= | |
| 11 | g.68413747C>G | CA381618295 | LRP5 | c.2562C>G (p.Tyr854Ter) c.*1168C>G (n.*1168C>G) c.819C>G (p.Tyr273Ter) c.2589C>G (p.Tyr863Ter) n.2604C>G c.102C>G (p.Tyr34Ter) n.2828C>G | |
| 11 | g.68413747C>T | CA6149687 | LRP5 | c.2562C>T (p.Tyr854=) c.*1168C>T (n.*1168C>T) c.819C>T (p.Tyr273=) c.2589C>T (p.Tyr863=) n.2604C>T c.102C>T (p.Tyr34=) n.2828C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68413748A>C | CA381618297 | LRP5 | c.2563A>C (p.Ser855Arg) c.*1169A>C (n.*1169A>C) c.820A>C (p.Ser274Arg) c.2590A>C (p.Ser864Arg) n.2605A>C c.103A>C (p.Ser35Arg) n.2829A>C | |
| 11 | g.68413748A>G | CA381618299 | LRP5 | c.2563A>G (p.Ser855Gly) c.*1169A>G (n.*1169A>G) c.820A>G (p.Ser274Gly) c.2590A>G (p.Ser864Gly) n.2605A>G c.103A>G (p.Ser35Gly) n.2829A>G | gnomAD v4 |
| 11 | g.68413748A>T | CA381618301 | LRP5 | c.2563A>T (p.Ser855Cys) c.*1169A>T (n.*1169A>T) c.820A>T (p.Ser274Cys) c.2590A>T (p.Ser864Cys) n.2605A>T c.103A>T (p.Ser35Cys) n.2829A>T | gnomAD v4 |
| 11 | g.68413749_68413752del | CA2614714598 | LRP5 | c.2564_2567del (p.Ser855IlefsTer?) c.*1170_*1173del (n.*1170_*1173del) c.821_824del (p.Ser274IlefsTer?) c.2591_2594del (p.Ser864IlefsTer?) n.2606_2609del c.104_107del (p.Ser35IlefsTer?) n.2830_2833del | gnomAD v4 |
| 11 | g.68413749G>A | CA381618303 | LRP5 | c.2564G>A (p.Ser855Asn) c.*1170G>A (n.*1170G>A) c.821G>A (p.Ser274Asn) c.2591G>A (p.Ser864Asn) n.2606G>A c.104G>A (p.Ser35Asn) n.2830G>A | ClinVar dbSNP |
| 11 | g.68413749G>C | CA381618305 | LRP5 | c.2564G>C (p.Ser855Thr) c.*1170G>C (n.*1170G>C) c.821G>C (p.Ser274Thr) c.2591G>C (p.Ser864Thr) n.2606G>C c.104G>C (p.Ser35Thr) n.2830G>C | |
| 11 | g.68413749G>T | CA381618307 | LRP5 | c.2564G>T (p.Ser855Ile) c.*1170G>T (n.*1170G>T) c.821G>T (p.Ser274Ile) c.2591G>T (p.Ser864Ile) n.2606G>T c.104G>T (p.Ser35Ile) n.2830G>T | |
| 11 | g.68413750C>A | CA381618309 | LRP5 | c.2565C>A (p.Ser855Arg) c.*1171C>A (n.*1171C>A) c.822C>A (p.Ser274Arg) c.2592C>A (p.Ser864Arg) n.2607C>A c.105C>A (p.Ser35Arg) n.2831C>A | ClinVar dbSNP |
| 11 | g.68413750C= | CA1980597943 | LRP5 | c.2565C= (p.Ser855=) c.*1171C= (n.*1171C=) c.822C= (p.Ser274=) c.2592C= (p.Ser864=) n.2607C= c.105C= (p.Ser35=) n.2831C= | |
| 11 | g.68413750C>G | CA381618310 | LRP5 | c.2565C>G (p.Ser855Arg) c.*1171C>G (n.*1171C>G) c.822C>G (p.Ser274Arg) c.2592C>G (p.Ser864Arg) n.2607C>G c.105C>G (p.Ser35Arg) n.2831C>G | |
| 11 | g.68413750C>T | CA475516559 | LRP5 | c.2565C>T (p.Ser855=) c.*1171C>T (n.*1171C>T) c.822C>T (p.Ser274=) c.2592C>T (p.Ser864=) n.2607C>T c.105C>T (p.Ser35=) n.2831C>T | dbSNP |
| 11 | g.68413751G>A | CA224274616 | LRP5 | c.2566G>A (p.Asp856Asn) c.*1172G>A (n.*1172G>A) c.823G>A (p.Asp275Asn) c.2593G>A (p.Asp865Asn) n.2608G>A c.106G>A (p.Asp36Asn) n.2832G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413751G>C | CA381618312 | LRP5 | c.2566G>C (p.Asp856His) c.*1172G>C (n.*1172G>C) c.823G>C (p.Asp275His) c.2593G>C (p.Asp865His) n.2608G>C c.106G>C (p.Asp36His) n.2832G>C | |
| 11 | g.68413751G= | CA1980597946 | LRP5 | c.2566G= (p.Asp856=) c.*1172G= (n.*1172G=) c.823G= (p.Asp275=) c.2593G= (p.Asp865=) n.2608G= c.106G= (p.Asp36=) n.2832G= | |
| 11 | g.68413751G>T | CA381618313 | LRP5 | c.2566G>T (p.Asp856Tyr) c.*1172G>T (n.*1172G>T) c.823G>T (p.Asp275Tyr) c.2593G>T (p.Asp865Tyr) n.2608G>T c.106G>T (p.Asp36Tyr) n.2832G>T | |
| 11 | g.68413752A= | CA1980597948 | LRP5 | c.2567A= (p.Asp856=) c.*1173A= (n.*1173A=) c.824A= (p.Asp275=) c.2594A= (p.Asp865=) n.2609A= c.107A= (p.Asp36=) n.2833A= | |
| 11 | g.68413752A>C | CA381618318 | LRP5 | c.2567A>C (p.Asp856Ala) c.*1173A>C (n.*1173A>C) c.824A>C (p.Asp275Ala) c.2594A>C (p.Asp865Ala) n.2609A>C c.107A>C (p.Asp36Ala) n.2833A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68413752A>G | CA381618316 | LRP5 | c.2567A>G (p.Asp856Gly) c.*1173A>G (n.*1173A>G) c.824A>G (p.Asp275Gly) c.2594A>G (p.Asp865Gly) n.2609A>G c.107A>G (p.Asp36Gly) n.2833A>G | |
| 11 | g.68413752A>T | CA381618315 | LRP5 | c.2567A>T (p.Asp856Val) c.*1173A>T (n.*1173A>T) c.824A>T (p.Asp275Val) c.2594A>T (p.Asp865Val) n.2609A>T c.107A>T (p.Asp36Val) n.2833A>T | |
| 11 | g.68413753T>A | CA381618321 | LRP5 | c.2568T>A (p.Asp856Glu) c.*1174T>A (n.*1174T>A) c.825T>A (p.Asp275Glu) c.2595T>A (p.Asp865Glu) n.2610T>A c.108T>A (p.Asp36Glu) n.2834T>A | |
| 11 | g.68413753T>C | CA475516567 | LRP5 | c.2568T>C (p.Asp856=) c.*1174T>C (n.*1174T>C) c.825T>C (p.Asp275=) c.2595T>C (p.Asp865=) n.2610T>C c.108T>C (p.Asp36=) n.2834T>C | |
| 11 | g.68413753T>G | CA381618320 | LRP5 | c.2568T>G (p.Asp856Glu) c.*1174T>G (n.*1174T>G) c.825T>G (p.Asp275Glu) c.2595T>G (p.Asp865Glu) n.2610T>G c.108T>G (p.Asp36Glu) n.2834T>G | |
| 11 | g.68413754T>A | CA381618324 | LRP5 | c.2569T>A (p.Tyr857Asn) c.*1175T>A (n.*1175T>A) c.826T>A (p.Tyr276Asn) c.2596T>A (p.Tyr866Asn) n.2611T>A c.109T>A (p.Tyr37Asn) n.2835T>A | |
| 11 | g.68413754T>C | CA381618325 | LRP5 | c.2569T>C (p.Tyr857His) c.*1175T>C (n.*1175T>C) c.826T>C (p.Tyr276His) c.2596T>C (p.Tyr866His) n.2611T>C c.109T>C (p.Tyr37His) n.2835T>C | gnomAD v4 |
| 11 | g.68413754T>G | CA381618327 | LRP5 | c.2569T>G (p.Tyr857Asp) c.*1175T>G (n.*1175T>G) c.826T>G (p.Tyr276Asp) c.2596T>G (p.Tyr866Asp) n.2611T>G c.109T>G (p.Tyr37Asp) n.2835T>G | dbSNP gnomAD v4 |
| 11 | g.68413754T= | CA1980597952 | LRP5 | c.2569T= (p.Tyr857=) c.*1175T= (n.*1175T=) c.826T= (p.Tyr276=) c.2596T= (p.Tyr866=) n.2611T= c.109T= (p.Tyr37=) n.2835T= | |
| 11 | g.68413755A= | CA1980597958 | LRP5 | c.2570A= (p.Tyr857=) c.*1176A= (n.*1176A=) c.827A= (p.Tyr276=) c.2597A= (p.Tyr866=) n.2612A= c.110A= (p.Tyr37=) n.2836A= | |
| 11 | g.68413755A>C | CA381618330 | LRP5 | c.2570A>C (p.Tyr857Ser) c.*1176A>C (n.*1176A>C) c.827A>C (p.Tyr276Ser) c.2597A>C (p.Tyr866Ser) n.2612A>C c.110A>C (p.Tyr37Ser) n.2836A>C | |
| 11 | g.68413755A>G | CA6149688 | LRP5 | c.2570A>G (p.Tyr857Cys) c.*1176A>G (n.*1176A>G) c.827A>G (p.Tyr276Cys) c.2597A>G (p.Tyr866Cys) n.2612A>G c.110A>G (p.Tyr37Cys) n.2836A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413755A>T | CA381618333 | LRP5 | c.2570A>T (p.Tyr857Phe) c.*1176A>T (n.*1176A>T) c.827A>T (p.Tyr276Phe) c.2597A>T (p.Tyr866Phe) n.2612A>T c.110A>T (p.Tyr37Phe) n.2836A>T | |
| 11 | g.68413756T>A | CA381618335 | LRP5 | c.2571T>A (p.Tyr857Ter) c.*1177T>A (n.*1177T>A) c.828T>A (p.Tyr276Ter) c.2598T>A (p.Tyr866Ter) n.2613T>A c.111T>A (p.Tyr37Ter) n.2837T>A | gnomAD v4 |
| 11 | g.68413756T>C | CA475516574 | LRP5 | c.2571T>C (p.Tyr857=) c.*1177T>C (n.*1177T>C) c.828T>C (p.Tyr276=) c.2598T>C (p.Tyr866=) n.2613T>C c.111T>C (p.Tyr37=) n.2837T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413756T>G | CA381618336 | LRP5 | c.2571T>G (p.Tyr857Ter) c.*1177T>G (n.*1177T>G) c.828T>G (p.Tyr276Ter) c.2598T>G (p.Tyr866Ter) n.2613T>G c.111T>G (p.Tyr37Ter) n.2837T>G | |
| 11 | g.68413756T= | CA1980597963 | LRP5 | c.2571T= (p.Tyr857=) c.*1177T= (n.*1177T=) c.828T= (p.Tyr276=) c.2598T= (p.Tyr866=) n.2613T= c.111T= (p.Tyr37=) n.2837T= | |
| 11 | g.68413757A= | CA1980597965 | LRP5 | c.2572A= (p.Ile858=) c.*1178A= (n.*1178A=) c.829A= (p.Ile277=) c.2599A= (p.Ile867=) n.2614A= c.112A= (p.Ile38=) n.2838A= | |
| 11 | g.68413757A>C | CA381618339 | LRP5 | c.2572A>C (p.Ile858Leu) c.*1178A>C (n.*1178A>C) c.829A>C (p.Ile277Leu) c.2599A>C (p.Ile867Leu) n.2614A>C c.112A>C (p.Ile38Leu) n.2838A>C | |
| 11 | g.68413757A>G | CA381618340 | LRP5 | c.2572A>G (p.Ile858Val) c.*1178A>G (n.*1178A>G) c.829A>G (p.Ile277Val) c.2599A>G (p.Ile867Val) n.2614A>G c.112A>G (p.Ile38Val) n.2838A>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68413757A>T | CA381618341 | LRP5 | c.2572A>T (p.Ile858Phe) c.*1178A>T (n.*1178A>T) c.829A>T (p.Ile277Phe) c.2599A>T (p.Ile867Phe) n.2614A>T c.112A>T (p.Ile38Phe) n.2838A>T | |
| 11 | g.68413758T>A | CA381618347 | LRP5 | c.2573T>A (p.Ile858Asn) c.*1179T>A (n.*1179T>A) c.830T>A (p.Ile277Asn) c.2600T>A (p.Ile867Asn) n.2615T>A c.113T>A (p.Ile38Asn) n.2839T>A | |
| 11 | g.68413758T>C | CA381618346 | LRP5 | c.2573T>C (p.Ile858Thr) c.*1179T>C (n.*1179T>C) c.830T>C (p.Ile277Thr) c.2600T>C (p.Ile867Thr) n.2615T>C c.113T>C (p.Ile38Thr) n.2839T>C | |
| 11 | g.68413758T>G | CA381618343 | LRP5 | c.2573T>G (p.Ile858Ser) c.*1179T>G (n.*1179T>G) c.830T>G (p.Ile277Ser) c.2600T>G (p.Ile867Ser) n.2615T>G c.113T>G (p.Ile38Ser) n.2839T>G | |
| 11 | g.68413759_68413760del | CA2614714606 | LRP5 | c.2574_2575del (p.Tyr859LeufsTer10) c.*1180_*1181del (n.*1180_*1181del) c.831_832del (p.Tyr278LeufsTer10) c.2601_2602del (p.Tyr868LeufsTer10) n.2616_2617del c.114_115del (p.Tyr39LeufsTer10) n.2840_2841del | gnomAD v4 |
| 11 | g.68413759C>A | CA475516578 | LRP5 | c.2574C>A (p.Ile858=) c.*1180C>A (n.*1180C>A) c.831C>A (p.Ile277=) c.2601C>A (p.Ile867=) n.2616C>A c.114C>A (p.Ile38=) n.2840C>A | |
| 11 | g.68413759C= | CA1980597968 | LRP5 | c.2574C= (p.Ile858=) c.*1180C= (n.*1180C=) c.831C= (p.Ile277=) c.2601C= (p.Ile867=) n.2616C= c.114C= (p.Ile38=) n.2840C= | |
| 11 | g.68413759C>G | CA381618349 | LRP5 | c.2574C>G (p.Ile858Met) c.*1180C>G (n.*1180C>G) c.831C>G (p.Ile277Met) c.2601C>G (p.Ile867Met) n.2616C>G c.114C>G (p.Ile38Met) n.2840C>G | |
| 11 | g.68413759C>T | CA6149689 | LRP5 | c.2574C>T (p.Ile858=) c.*1180C>T (n.*1180C>T) c.831C>T (p.Ile277=) c.2601C>T (p.Ile867=) n.2616C>T c.114C>T (p.Ile38=) n.2840C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413760T>A | CA381618352 | LRP5 | c.2575T>A (p.Tyr859Asn) c.*1181T>A (n.*1181T>A) c.832T>A (p.Tyr278Asn) c.2602T>A (p.Tyr868Asn) n.2617T>A c.115T>A (p.Tyr39Asn) n.2841T>A | |
| 11 | g.68413760T>C | CA381618353 | LRP5 | c.2575T>C (p.Tyr859His) c.*1181T>C (n.*1181T>C) c.832T>C (p.Tyr278His) c.2602T>C (p.Tyr868His) n.2617T>C c.115T>C (p.Tyr39His) n.2841T>C | |
| 11 | g.68413760T>G | CA381618354 | LRP5 | c.2575T>G (p.Tyr859Asp) c.*1181T>G (n.*1181T>G) c.832T>G (p.Tyr278Asp) c.2602T>G (p.Tyr868Asp) n.2617T>G c.115T>G (p.Tyr39Asp) n.2841T>G | |
| 11 | g.68413761A= | CA1980597969 | LRP5 | c.2576A= (p.Tyr859=) c.*1182A= (n.*1182A=) c.833A= (p.Tyr278=) c.2603A= (p.Tyr868=) n.2618A= c.116A= (p.Tyr39=) n.2842A= | |
| 11 | g.68413761A>C | CA381618356 | LRP5 | c.2576A>C (p.Tyr859Ser) c.*1182A>C (n.*1182A>C) c.833A>C (p.Tyr278Ser) c.2603A>C (p.Tyr868Ser) n.2618A>C c.116A>C (p.Tyr39Ser) n.2842A>C | |
| 11 | g.68413761A>G | CA381618357 | LRP5 | c.2576A>G (p.Tyr859Cys) c.*1182A>G (n.*1182A>G) c.833A>G (p.Tyr278Cys) c.2603A>G (p.Tyr868Cys) n.2618A>G c.116A>G (p.Tyr39Cys) n.2842A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.68413761A>T | CA381618359 | LRP5 | c.2576A>T (p.Tyr859Phe) c.*1182A>T (n.*1182A>T) c.833A>T (p.Tyr278Phe) c.2603A>T (p.Tyr868Phe) n.2618A>T c.116A>T (p.Tyr39Phe) n.2842A>T | |
| 11 | g.68413762C>A | CA381618361 | LRP5 | c.2577C>A (p.Tyr859Ter) c.*1183C>A (n.*1183C>A) c.834C>A (p.Tyr278Ter) c.2604C>A (p.Tyr868Ter) n.2619C>A c.117C>A (p.Tyr39Ter) n.2843C>A | |
| 11 | g.68413762C>G | CA381618362 | LRP5 | c.2577C>G (p.Tyr859Ter) c.*1183C>G (n.*1183C>G) c.834C>G (p.Tyr278Ter) c.2604C>G (p.Tyr868Ter) n.2619C>G c.117C>G (p.Tyr39Ter) n.2843C>G | |
| 11 | g.68413762C>T | CA475516588 | LRP5 | c.2577C>T (p.Tyr859=) c.*1183C>T (n.*1183C>T) c.834C>T (p.Tyr278=) c.2604C>T (p.Tyr868=) n.2619C>T c.117C>T (p.Tyr39=) n.2843C>T | ClinVar |
| 11 | g.68413763T>A | CA381618363 | LRP5 | c.2578T>A (p.Trp860Arg) c.*1184T>A (n.*1184T>A) c.835T>A (p.Trp279Arg) c.2605T>A (p.Trp869Arg) n.2620T>A c.118T>A (p.Trp40Arg) n.2844T>A | |
| 11 | g.68413763T>C | CA381618365 | LRP5 | c.2578T>C (p.Trp860Arg) c.*1184T>C (n.*1184T>C) c.835T>C (p.Trp279Arg) c.2605T>C (p.Trp869Arg) n.2620T>C c.118T>C (p.Trp40Arg) n.2844T>C | gnomAD v4 |
| 11 | g.68413763T>G | CA381618367 | LRP5 | c.2578T>G (p.Trp860Gly) c.*1184T>G (n.*1184T>G) c.835T>G (p.Trp279Gly) c.2605T>G (p.Trp869Gly) n.2620T>G c.118T>G (p.Trp40Gly) n.2844T>G | |
| 11 | g.68413764G>A | CA381618372 | LRP5 | c.2579G>A (p.Trp860Ter) c.*1185G>A (n.*1185G>A) c.836G>A (p.Trp279Ter) c.2606G>A (p.Trp869Ter) n.2621G>A c.119G>A (p.Trp40Ter) n.2845G>A | |
| 11 | g.68413764G>C | CA381618370 | LRP5 | c.2579G>C (p.Trp860Ser) c.*1185G>C (n.*1185G>C) c.836G>C (p.Trp279Ser) c.2606G>C (p.Trp869Ser) n.2621G>C c.119G>C (p.Trp40Ser) n.2845G>C | |
| 11 | g.68413764G>T | CA381618369 | LRP5 | c.2579G>T (p.Trp860Leu) c.*1185G>T (n.*1185G>T) c.836G>T (p.Trp279Leu) c.2606G>T (p.Trp869Leu) n.2621G>T c.119G>T (p.Trp40Leu) n.2845G>T | |
| 11 | g.68413765G>A | CA381618374 | LRP5 | c.2580G>A (p.Trp860Ter) c.*1186G>A (n.*1186G>A) c.837G>A (p.Trp279Ter) c.2607G>A (p.Trp869Ter) n.2622G>A c.120G>A (p.Trp40Ter) n.2846G>A | |
| 11 | g.68413765G>C | CA381618379 | LRP5 | c.2580G>C (p.Trp860Cys) c.*1186G>C (n.*1186G>C) c.837G>C (p.Trp279Cys) c.2607G>C (p.Trp869Cys) n.2622G>C c.120G>C (p.Trp40Cys) n.2846G>C | gnomAD v4 |
| 11 | g.68413765G>T | CA381618376 | LRP5 | c.2580G>T (p.Trp860Cys) c.*1186G>T (n.*1186G>T) c.837G>T (p.Trp279Cys) c.2607G>T (p.Trp869Cys) n.2622G>T c.120G>T (p.Trp40Cys) n.2846G>T | |
| 11 | g.68413766A= | CA1980597975 | LRP5 | c.2581A= (p.Thr861=) c.*1187A= (n.*1187A=) c.838A= (p.Thr280=) c.2608A= (p.Thr870=) n.2623A= c.121A= (p.Thr41=) n.2847A= | |
| 11 | g.68413766A>C | CA381618381 | LRP5 | c.2581A>C (p.Thr861Pro) c.*1187A>C (n.*1187A>C) c.838A>C (p.Thr280Pro) c.2608A>C (p.Thr870Pro) n.2623A>C c.121A>C (p.Thr41Pro) n.2847A>C | |
| 11 | g.68413766A>G | CA381618384 | LRP5 | c.2581A>G (p.Thr861Ala) c.*1187A>G (n.*1187A>G) c.838A>G (p.Thr280Ala) c.2608A>G (p.Thr870Ala) n.2623A>G c.121A>G (p.Thr41Ala) n.2847A>G | |
| 11 | g.68413766A>T | CA381618383 | LRP5 | c.2581A>T (p.Thr861Ser) c.*1187A>T (n.*1187A>T) c.838A>T (p.Thr280Ser) c.2608A>T (p.Thr870Ser) n.2623A>T c.121A>T (p.Thr41Ser) n.2847A>T | ClinVar dbSNP |
| 11 | g.68413767C>A | CA381618386 | LRP5 | c.2582C>A (p.Thr861Lys) c.*1188C>A (n.*1188C>A) c.839C>A (p.Thr280Lys) c.2609C>A (p.Thr870Lys) n.2624C>A c.122C>A (p.Thr41Lys) n.2848C>A | |
| 11 | g.68413767C>G | CA381618388 | LRP5 | c.2582C>G (p.Thr861Arg) c.*1188C>G (n.*1188C>G) c.839C>G (p.Thr280Arg) c.2609C>G (p.Thr870Arg) n.2624C>G c.122C>G (p.Thr41Arg) n.2848C>G | |
| 11 | g.68413767C>T | CA381618389 | LRP5 | c.2582C>T (p.Thr861Ile) c.*1188C>T (n.*1188C>T) c.839C>T (p.Thr280Ile) c.2609C>T (p.Thr870Ile) n.2624C>T c.122C>T (p.Thr41Ile) n.2848C>T | |
| 11 | g.68413768A>C | CA475516611 | LRP5 | c.2583A>C (p.Thr861=) c.*1189A>C (n.*1189A>C) c.840A>C (p.Thr280=) c.2610A>C (p.Thr870=) n.2625A>C c.123A>C (p.Thr41=) n.2849A>C | |
| 11 | g.68413768A>G | CA475516619 | LRP5 | c.2583A>G (p.Thr861=) c.*1189A>G (n.*1189A>G) c.840A>G (p.Thr280=) c.2610A>G (p.Thr870=) n.2625A>G c.123A>G (p.Thr41=) n.2849A>G | COSMIC |
| 11 | g.68413768A>T | CA475516613 | LRP5 | c.2583A>T (p.Thr861=) c.*1189A>T (n.*1189A>T) c.840A>T (p.Thr280=) c.2610A>T (p.Thr870=) n.2625A>T c.123A>T (p.Thr41=) n.2849A>T | |
| 11 | g.68413769G>A | CA381618392 | LRP5 | c.2584G>A (p.Asp862Asn) c.*1190G>A (n.*1190G>A) c.841G>A (p.Asp281Asn) c.2611G>A (p.Asp871Asn) n.2626G>A c.124G>A (p.Asp42Asn) n.2850G>A | |
| 11 | g.68413769G>C | CA381618393 | LRP5 | c.2584G>C (p.Asp862His) c.*1190G>C (n.*1190G>C) c.841G>C (p.Asp281His) c.2611G>C (p.Asp871His) n.2626G>C c.124G>C (p.Asp42His) n.2850G>C | |
| 11 | g.68413769G>T | CA381618395 | LRP5 | c.2584G>T (p.Asp862Tyr) c.*1190G>T (n.*1190G>T) c.841G>T (p.Asp281Tyr) c.2611G>T (p.Asp871Tyr) n.2626G>T c.124G>T (p.Asp42Tyr) n.2850G>T | |
| 11 | g.68413770A= | CA1980597978 | LRP5 | c.2585A= (p.Asp862=) c.*1191A= (n.*1191A=) c.842A= (p.Asp281=) c.2612A= (p.Asp871=) n.2627A= c.125A= (p.Asp42=) n.2851A= | |
| 11 | g.68413770A>C | CA381618397 | LRP5 | c.2585A>C (p.Asp862Ala) c.*1191A>C (n.*1191A>C) c.842A>C (p.Asp281Ala) c.2612A>C (p.Asp871Ala) n.2627A>C c.125A>C (p.Asp42Ala) n.2851A>C | |
| 11 | g.68413770A>G | CA381618399 | LRP5 | c.2585A>G (p.Asp862Gly) c.*1191A>G (n.*1191A>G) c.842A>G (p.Asp281Gly) c.2612A>G (p.Asp871Gly) n.2627A>G c.125A>G (p.Asp42Gly) n.2851A>G | |
| 11 | g.68413770A>T | CA381618401 | LRP5 | c.2585A>T (p.Asp862Val) c.*1191A>T (n.*1191A>T) c.842A>T (p.Asp281Val) c.2612A>T (p.Asp871Val) n.2627A>T c.125A>T (p.Asp42Val) n.2851A>T | ClinVar dbSNP |
| 11 | g.68413771C>A | CA381618403 | LRP5 | c.2586C>A (p.Asp862Glu) c.*1192C>A (n.*1192C>A) c.843C>A (p.Asp281Glu) c.2613C>A (p.Asp871Glu) n.2628C>A c.126C>A (p.Asp42Glu) n.2852C>A | |
| 11 | g.68413771C= | CA1980597981 | LRP5 | c.2586C= (p.Asp862=) c.*1192C= (n.*1192C=) c.843C= (p.Asp281=) c.2613C= (p.Asp871=) n.2628C= c.126C= (p.Asp42=) n.2852C= | |
| 11 | g.68413771C>G | CA381618405 | LRP5 | c.2586C>G (p.Asp862Glu) c.*1192C>G (n.*1192C>G) c.843C>G (p.Asp281Glu) c.2613C>G (p.Asp871Glu) n.2628C>G c.126C>G (p.Asp42Glu) n.2852C>G | |
| 11 | g.68413771C>T | CA6149690 | LRP5 | c.2586C>T (p.Asp862=) c.*1192C>T (n.*1192C>T) c.843C>T (p.Asp281=) c.2613C>T (p.Asp871=) n.2628C>T c.126C>T (p.Asp42=) n.2852C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68413772T>A | CA381618412 | LRP5 | c.2587T>A (p.Trp863Arg) c.*1193T>A (n.*1193T>A) c.844T>A (p.Trp282Arg) c.2614T>A (p.Trp872Arg) n.2629T>A c.127T>A (p.Trp43Arg) n.2853T>A | |
| 11 | g.68413772T>C | CA381618408 | LRP5 | c.2587T>C (p.Trp863Arg) c.*1193T>C (n.*1193T>C) c.844T>C (p.Trp282Arg) c.2614T>C (p.Trp872Arg) n.2629T>C c.127T>C (p.Trp43Arg) n.2853T>C | |
| 11 | g.68413772T>G | CA381618410 | LRP5 | c.2587T>G (p.Trp863Gly) c.*1193T>G (n.*1193T>G) c.844T>G (p.Trp282Gly) c.2614T>G (p.Trp872Gly) n.2629T>G c.127T>G (p.Trp43Gly) n.2853T>G | |
| 11 | g.68413773G>A | CA381618414 | LRP5 | c.2588G>A (p.Trp863Ter) c.*1194G>A (n.*1194G>A) c.845G>A (p.Trp282Ter) c.2615G>A (p.Trp872Ter) n.2630G>A c.128G>A (p.Trp43Ter) n.2854G>A | gnomAD v4 |
| 11 | g.68413773G>C | CA381618415 | LRP5 | c.2588G>C (p.Trp863Ser) c.*1194G>C (n.*1194G>C) c.845G>C (p.Trp282Ser) c.2615G>C (p.Trp872Ser) n.2630G>C c.128G>C (p.Trp43Ser) n.2854G>C | |
| 11 | g.68413773G>T | CA381618417 | LRP5 | c.2588G>T (p.Trp863Leu) c.*1194G>T (n.*1194G>T) c.845G>T (p.Trp282Leu) c.2615G>T (p.Trp872Leu) n.2630G>T c.128G>T (p.Trp43Leu) n.2854G>T | |
| 11 | g.68413774G>A | CA381618419 | LRP5 | c.2589G>A (p.Trp863Ter) c.*1195G>A (n.*1195G>A) c.846G>A (p.Trp282Ter) c.2616G>A (p.Trp872Ter) n.2631G>A c.129G>A (p.Trp43Ter) n.2855G>A | |
| 11 | g.68413774G>C | CA381618420 | LRP5 | c.2589G>C (p.Trp863Cys) c.*1195G>C (n.*1195G>C) c.846G>C (p.Trp282Cys) c.2616G>C (p.Trp872Cys) n.2631G>C c.129G>C (p.Trp43Cys) n.2855G>C | |
| 11 | g.68413774G>T | CA381618421 | LRP5 | c.2589G>T (p.Trp863Cys) c.*1195G>T (n.*1195G>T) c.846G>T (p.Trp282Cys) c.2616G>T (p.Trp872Cys) n.2631G>T c.129G>T (p.Trp43Cys) n.2855G>T | |
| 11 | g.68413775A= | CA1980597983 | LRP5 | c.2590A= (p.Asn864=) c.*1196A= (n.*1196A=) c.847A= (p.Asn283=) c.2617A= (p.Asn873=) n.2632A= c.130A= (p.Asn44=) n.2856A= | |
| 11 | g.68413775A>C | CA224274630 | LRP5 | c.2590A>C (p.Asn864His) c.*1196A>C (n.*1196A>C) c.847A>C (p.Asn283His) c.2617A>C (p.Asn873His) n.2632A>C c.130A>C (p.Asn44His) n.2856A>C | dbSNP gnomAD v4 |
| 11 | g.68413775A>G | CA381618424 | LRP5 | c.2590A>G (p.Asn864Asp) c.*1196A>G (n.*1196A>G) c.847A>G (p.Asn283Asp) c.2617A>G (p.Asn873Asp) n.2632A>G c.130A>G (p.Asn44Asp) n.2856A>G | |
| 11 | g.68413775A>T | CA6149691 | LRP5 | c.2590A>T (p.Asn864Tyr) c.*1196A>T (n.*1196A>T) c.847A>T (p.Asn283Tyr) c.2617A>T (p.Asn873Tyr) n.2632A>T c.130A>T (p.Asn44Tyr) n.2856A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68413776A>C | CA381618426 | LRP5 | c.2591A>C (p.Asn864Thr) c.*1197A>C (n.*1197A>C) c.848A>C (p.Asn283Thr) c.2618A>C (p.Asn873Thr) n.2633A>C c.131A>C (p.Asn44Thr) n.2857A>C | |
| 11 | g.68413776A>G | CA381618428 | LRP5 | c.2591A>G (p.Asn864Ser) c.*1197A>G (n.*1197A>G) c.848A>G (p.Asn283Ser) c.2618A>G (p.Asn873Ser) n.2633A>G c.131A>G (p.Asn44Ser) n.2857A>G | |
| 11 | g.68413776A>T | CA381618430 | LRP5 | c.2591A>T (p.Asn864Ile) c.*1197A>T (n.*1197A>T) c.848A>T (p.Asn283Ile) c.2618A>T (p.Asn873Ile) n.2633A>T c.131A>T (p.Asn44Ile) n.2857A>T | |
| 11 | g.68413777T>A | CA381618432 | LRP5 | c.2592T>A (p.Asn864Lys) c.*1198T>A (n.*1198T>A) c.849T>A (p.Asn283Lys) c.2619T>A (p.Asn873Lys) n.2634T>A c.132T>A (p.Asn44Lys) n.2858T>A | |
| 11 | g.68413777T>C | CA475516639 | LRP5 | c.2592T>C (p.Asn864=) c.*1198T>C (n.*1198T>C) c.849T>C (p.Asn283=) c.2619T>C (p.Asn873=) n.2634T>C c.132T>C (p.Asn44=) n.2858T>C | |
| 11 | g.68413777T>G | CA381618434 | LRP5 | c.2592T>G (p.Asn864Lys) c.*1198T>G (n.*1198T>G) c.849T>G (p.Asn283Lys) c.2619T>G (p.Asn873Lys) n.2634T>G c.132T>G (p.Asn44Lys) n.2858T>G | |
| 11 | g.68413778C>A | CA381618436 | LRP5 | c.2593C>A (p.Leu865Met) c.*1199C>A (n.*1199C>A) c.850C>A (p.Leu284Met) c.2620C>A (p.Leu874Met) n.2635C>A c.133C>A (p.Leu45Met) n.2859C>A | |
| 11 | g.68413778C>G | CA381618438 | LRP5 | c.2593C>G (p.Leu865Val) c.*1199C>G (n.*1199C>G) c.850C>G (p.Leu284Val) c.2620C>G (p.Leu874Val) n.2635C>G c.133C>G (p.Leu45Val) n.2859C>G | |
| 11 | g.68413778C>T | CA475516640 | LRP5 | c.2593C>T (p.Leu865=) c.*1199C>T (n.*1199C>T) c.850C>T (p.Leu284=) c.2620C>T (p.Leu874=) n.2635C>T c.133C>T (p.Leu45=) n.2859C>T | |
| 11 | g.68413779T>A | CA381618439 | LRP5 | c.2594T>A (p.Leu865Gln) c.*1200T>A (n.*1200T>A) c.851T>A (p.Leu284Gln) c.2621T>A (p.Leu874Gln) n.2636T>A c.134T>A (p.Leu45Gln) n.2860T>A | |
| 11 | g.68413779T>C | CA381618441 | LRP5 | c.2594T>C (p.Leu865Pro) c.*1200T>C (n.*1200T>C) c.851T>C (p.Leu284Pro) c.2621T>C (p.Leu874Pro) n.2636T>C c.134T>C (p.Leu45Pro) n.2860T>C | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68413779T>G | CA381618442 | LRP5 | c.2594T>G (p.Leu865Arg) c.*1200T>G (n.*1200T>G) c.851T>G (p.Leu284Arg) c.2621T>G (p.Leu874Arg) n.2636T>G c.134T>G (p.Leu45Arg) n.2860T>G | |
| 11 | g.68413779T= | CA1980597987 | LRP5 | c.2594T= (p.Leu865=) c.*1200T= (n.*1200T=) c.851T= (p.Leu284=) c.2621T= (p.Leu874=) n.2636T= c.134T= (p.Leu45=) n.2860T= | |
| 11 | g.68413780G>A | CA475516646 | LRP5 | c.2595G>A (p.Leu865=) c.*1201G>A (n.*1201G>A) c.852G>A (p.Leu284=) c.2622G>A (p.Leu874=) n.2637G>A c.135G>A (p.Leu45=) n.2861G>A | |
| 11 | g.68413780G>C | CA475516648 | LRP5 | c.2595G>C (p.Leu865=) c.*1201G>C (n.*1201G>C) c.852G>C (p.Leu284=) c.2622G>C (p.Leu874=) n.2637G>C c.135G>C (p.Leu45=) n.2861G>C | |
| 11 | g.68413780G= | CA1980597990 | LRP5 | c.2595G= (p.Leu865=) c.*1201G= (n.*1201G=) c.852G= (p.Leu284=) c.2622G= (p.Leu874=) n.2637G= c.135G= (p.Leu45=) n.2861G= | |
| 11 | g.68413780G>T | CA6149692 | LRP5 | c.2595G>T (p.Leu865=) c.*1201G>T (n.*1201G>T) c.852G>T (p.Leu284=) c.2622G>T (p.Leu874=) n.2637G>T c.135G>T (p.Leu45=) n.2861G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413780_68413781del | CA2614714618 | LRP5 | c.2595_2596del (p.His866GlnfsTer3) c.*1201_*1202del (n.*1201_*1202del) c.852_853del (p.His285GlnfsTer3) c.2622_2623del (p.His875GlnfsTer3) n.2637_2638del c.135_136del (p.His46GlnfsTer3) n.2861_2862del | gnomAD v4 |
| 11 | g.68413781C>A | CA381618449 | LRP5 | c.2596C>A (p.His866Asn) c.*1202C>A (n.*1202C>A) c.853C>A (p.His285Asn) c.2623C>A (p.His875Asn) n.2638C>A c.136C>A (p.His46Asn) n.2862C>A | |
| 11 | g.68413781C>G | CA381618445 | LRP5 | c.2596C>G (p.His866Asp) c.*1202C>G (n.*1202C>G) c.853C>G (p.His285Asp) c.2623C>G (p.His875Asp) n.2638C>G c.136C>G (p.His46Asp) n.2862C>G | |
| 11 | g.68413781C>T | CA381618447 | LRP5 | c.2596C>T (p.His866Tyr) c.*1202C>T (n.*1202C>T) c.853C>T (p.His285Tyr) c.2623C>T (p.His875Tyr) n.2638C>T c.136C>T (p.His46Tyr) n.2862C>T | gnomAD v4 |
| 11 | g.68413782A>C | CA381618451 | LRP5 | c.2597A>C (p.His866Pro) c.*1203A>C (n.*1203A>C) c.854A>C (p.His285Pro) c.2624A>C (p.His875Pro) n.2639A>C c.137A>C (p.His46Pro) | |
| 11 | g.68413782A>G | CA381618452 | LRP5 | c.2597A>G (p.His866Arg) c.*1203A>G (n.*1203A>G) c.854A>G (p.His285Arg) c.2624A>G (p.His875Arg) n.2639A>G c.137A>G (p.His46Arg) | |
| 11 | g.68413782A>T | CA381618454 | LRP5 | c.2597A>T (p.His866Leu) c.*1203A>T (n.*1203A>T) c.854A>T (p.His285Leu) c.2624A>T (p.His875Leu) n.2639A>T c.137A>T (p.His46Leu) | |
| 11 | g.68413783C>A | CA381618456 | LRP5 | c.2598C>A (p.His866Gln) c.*1204C>A (n.*1204C>A) c.855C>A (p.His285Gln) c.2625C>A (p.His875Gln) n.2640C>A c.138C>A (p.His46Gln) | |
| 11 | g.68413783C>G | CA381618458 | LRP5 | c.2598C>G (p.His866Gln) c.*1204C>G (n.*1204C>G) c.855C>G (p.His285Gln) c.2625C>G (p.His875Gln) n.2640C>G c.138C>G (p.His46Gln) | |
| 11 | g.68413783C>T | CA475516661 | LRP5 | c.2598C>T (p.His866=) c.*1204C>T (n.*1204C>T) c.855C>T (p.His285=) c.2625C>T (p.His875=) n.2640C>T c.138C>T (p.His46=) | |
| 11 | g.68413784A>C | CA381618460 | LRP5 | c.2599A>C (p.Ser867Arg) c.*1205A>C (n.*1205A>C) c.856A>C (p.Ser286Arg) c.2626A>C (p.Ser876Arg) n.2641A>C c.139A>C (p.Ser47Arg) | |
| 11 | g.68413784A>G | CA381618463 | LRP5 | c.2599A>G (p.Ser867Gly) c.*1205A>G (n.*1205A>G) c.856A>G (p.Ser286Gly) c.2626A>G (p.Ser876Gly) n.2641A>G c.139A>G (p.Ser47Gly) | |
| 11 | g.68413784A>T | CA381618461 | LRP5 | c.2599A>T (p.Ser867Cys) c.*1205A>T (n.*1205A>T) c.856A>T (p.Ser286Cys) c.2626A>T (p.Ser876Cys) n.2641A>T c.139A>T (p.Ser47Cys) | |
| 11 | g.68413785G>A | CA6149694 | LRP5 | c.2600G>A (p.Ser867Asn) c.*1206G>A (n.*1206G>A) c.857G>A (p.Ser286Asn) c.2627G>A (p.Ser876Asn) n.2642G>A c.140G>A (p.Ser47Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68413785G>C | CA381618465 | LRP5 | c.2600G>C (p.Ser867Thr) c.*1206G>C (n.*1206G>C) c.857G>C (p.Ser286Thr) c.2627G>C (p.Ser876Thr) n.2642G>C c.140G>C (p.Ser47Thr) | |
| 11 | g.68413785G= | CA1980597994 | LRP5 | c.2600G= (p.Ser867=) c.*1206G= (n.*1206G=) c.857G= (p.Ser286=) c.2627G= (p.Ser876=) n.2642G= c.140G= (p.Ser47=) | |
| 11 | g.68413785G>T | CA6149693 | LRP5 | c.2600G>T (p.Ser867Ile) c.*1206G>T (n.*1206G>T) c.857G>T (p.Ser286Ile) c.2627G>T (p.Ser876Ile) n.2642G>T c.140G>T (p.Ser47Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68413786C>A | CA381618468 | LRP5 | c.2601C>A (p.Ser867Arg) c.*1207C>A (n.*1207C>A) c.858C>A (p.Ser286Arg) c.2628C>A (p.Ser876Arg) n.2643C>A c.141C>A (p.Ser47Arg) | |
| 11 | g.68413786C>G | CA381618470 | LRP5 | c.2601C>G (p.Ser867Arg) c.*1207C>G (n.*1207C>G) c.858C>G (p.Ser286Arg) c.2628C>G (p.Ser876Arg) n.2643C>G c.141C>G (p.Ser47Arg) | |
| 11 | g.68413786C>T | CA475516672 | LRP5 | c.2601C>T (p.Ser867=) c.*1207C>T (n.*1207C>T) c.858C>T (p.Ser286=) c.2628C>T (p.Ser876=) n.2643C>T c.141C>T (p.Ser47=) | |
| 11 | g.68413787A>C | CA381618473 | LRP5 | c.2602A>C (p.Ile868Leu) c.*1208A>C (n.*1208A>C) c.859A>C (p.Ile287Leu) c.2629A>C (p.Ile877Leu) n.2644A>C c.142A>C (p.Ile48Leu) | |
| 11 | g.68413787A>G | CA381618474 | LRP5 | c.2602A>G (p.Ile868Val) c.*1208A>G (n.*1208A>G) c.859A>G (p.Ile287Val) c.2629A>G (p.Ile877Val) n.2644A>G c.142A>G (p.Ile48Val) | |
| 11 | g.68413787A>T | CA381618476 | LRP5 | c.2602A>T (p.Ile868Phe) c.*1208A>T (n.*1208A>T) c.859A>T (p.Ile287Phe) c.2629A>T (p.Ile877Phe) n.2644A>T c.142A>T (p.Ile48Phe) | |
| 11 | g.68413788T>A | CA381618478 | LRP5 | c.2603T>A (p.Ile868Asn) c.*1209T>A (n.*1209T>A) c.860T>A (p.Ile287Asn) c.2630T>A (p.Ile877Asn) n.2645T>A c.143T>A (p.Ile48Asn) | gnomAD v4 |
| 11 | g.68413788T>C | CA381618479 | LRP5 | c.2603T>C (p.Ile868Thr) c.*1209T>C (n.*1209T>C) c.860T>C (p.Ile287Thr) c.2630T>C (p.Ile877Thr) n.2645T>C c.143T>C (p.Ile48Thr) | gnomAD v4 |
| 11 | g.68413788T>G | CA381618481 | LRP5 | c.2603T>G (p.Ile868Ser) c.*1209T>G (n.*1209T>G) c.860T>G (p.Ile287Ser) c.2630T>G (p.Ile877Ser) n.2645T>G c.143T>G (p.Ile48Ser) | |
| 11 | g.68413789T>A | CA475516681 | LRP5 | c.2604T>A (p.Ile868=) c.*1210T>A (n.*1210T>A) c.861T>A (p.Ile287=) c.2631T>A (p.Ile877=) n.2646T>A c.144T>A (p.Ile48=) | |
| 11 | g.68413789T>C | CA475516679 | LRP5 | c.2604T>C (p.Ile868=) c.*1210T>C (n.*1210T>C) c.861T>C (p.Ile287=) c.2631T>C (p.Ile877=) n.2646T>C c.144T>C (p.Ile48=) | |
| 11 | g.68413789T>G | CA381618483 | LRP5 | c.2604T>G (p.Ile868Met) c.*1210T>G (n.*1210T>G) c.861T>G (p.Ile287Met) c.2631T>G (p.Ile877Met) n.2646T>G c.144T>G (p.Ile48Met) | |
| 11 | g.68413790G>A | CA381618487 | LRP5 | c.2605G>A (p.Glu869Lys) c.*1211G>A (n.*1211G>A) c.862G>A (p.Glu288Lys) c.2632G>A (p.Glu878Lys) n.2647G>A c.145G>A (p.Glu49Lys) | gnomAD v4 COSMIC |
| 11 | g.68413790G>C | CA381618485 | LRP5 | c.2605G>C (p.Glu869Gln) c.*1211G>C (n.*1211G>C) c.862G>C (p.Glu288Gln) c.2632G>C (p.Glu878Gln) n.2647G>C c.145G>C (p.Glu49Gln) | |
| 11 | g.68413790G>T | CA381618489 | LRP5 | c.2605G>T (p.Glu869Ter) c.*1211G>T (n.*1211G>T) c.862G>T (p.Glu288Ter) c.2632G>T (p.Glu878Ter) n.2647G>T c.145G>T (p.Glu49Ter) | |
| 11 | g.68413791A>C | CA381618491 | LRP5 | c.2606A>C (p.Glu869Ala) c.*1212A>C (n.*1212A>C) c.863A>C (p.Glu288Ala) c.2633A>C (p.Glu878Ala) n.2648A>C c.146A>C (p.Glu49Ala) | |
| 11 | g.68413791A>G | CA381618493 | LRP5 | c.2606A>G (p.Glu869Gly) c.*1212A>G (n.*1212A>G) c.863A>G (p.Glu288Gly) c.2633A>G (p.Glu878Gly) n.2648A>G c.146A>G (p.Glu49Gly) | gnomAD v4 |
| 11 | g.68413791A>T | CA381618495 | LRP5 | c.2606A>T (p.Glu869Val) c.*1212A>T (n.*1212A>T) c.863A>T (p.Glu288Val) c.2633A>T (p.Glu878Val) n.2648A>T c.146A>T (p.Glu49Val) | |
| 11 | g.68413792G>A | CA475516691 | LRP5 | c.2607G>A (p.Glu869=) c.*1213G>A (n.*1213G>A) c.864G>A (p.Glu288=) c.2634G>A (p.Glu878=) n.2649G>A c.147G>A (p.Glu49=) | |
| 11 | g.68413792G>C | CA381618497 | LRP5 | c.2607G>C (p.Glu869Asp) c.*1213G>C (n.*1213G>C) c.864G>C (p.Glu288Asp) c.2634G>C (p.Glu878Asp) n.2649G>C c.147G>C (p.Glu49Asp) | |
| 11 | g.68413792G>T | CA381618498 | LRP5 | c.2607G>T (p.Glu869Asp) c.*1213G>T (n.*1213G>T) c.864G>T (p.Glu288Asp) c.2634G>T (p.Glu878Asp) n.2649G>T c.147G>T (p.Glu49Asp) | |
| 11 | g.68413793C>A | CA475516696 | LRP5 | c.2608C>A (p.Arg870=) c.*1214C>A (n.*1214C>A) c.865C>A (p.Arg289=) c.2635C>A (p.Arg879=) n.2650C>A c.148C>A (p.Arg50=) | dbSNP |
| 11 | g.68413793C= | CA1980597998 | LRP5 | c.2608C= (p.Arg870=) c.*1214C= (n.*1214C=) c.865C= (p.Arg289=) c.2635C= (p.Arg879=) n.2650C= c.148C= (p.Arg50=) | |
| 11 | g.68413793C>G | CA381618500 | LRP5 | c.2608C>G (p.Arg870Gly) c.*1214C>G (n.*1214C>G) c.865C>G (p.Arg289Gly) c.2635C>G (p.Arg879Gly) n.2650C>G c.148C>G (p.Arg50Gly) | |
| 11 | g.68413793C>T | CA6149696 | LRP5 | c.2608C>T (p.Arg870Trp) c.*1214C>T (n.*1214C>T) c.865C>T (p.Arg289Trp) c.2635C>T (p.Arg879Trp) n.2650C>T c.148C>T (p.Arg50Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413794G>A | CA6149697 | LRP5 | c.2609G>A (p.Arg870Gln) c.*1215G>A (n.*1215G>A) c.866G>A (p.Arg289Gln) c.2636G>A (p.Arg879Gln) n.2651G>A c.149G>A (p.Arg50Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413794G>C | CA381618504 | LRP5 | c.2609G>C (p.Arg870Pro) c.*1215G>C (n.*1215G>C) c.866G>C (p.Arg289Pro) c.2636G>C (p.Arg879Pro) n.2651G>C c.149G>C (p.Arg50Pro) | |
| 11 | g.68413794G= | CA1980598004 | LRP5 | c.2609G= (p.Arg870=) c.*1215G= (n.*1215G=) c.866G= (p.Arg289=) c.2636G= (p.Arg879=) n.2651G= c.149G= (p.Arg50=) | |
| 11 | g.68413794G>T | CA381618506 | LRP5 | c.2609G>T (p.Arg870Leu) c.*1215G>T (n.*1215G>T) c.866G>T (p.Arg289Leu) c.2636G>T (p.Arg879Leu) n.2651G>T c.149G>T (p.Arg50Leu) | |
| 11 | g.68413796dup | CA6149695 | LRP5 | c.2611dup (p.Ala871GlyfsTer5) c.*1217dup (n.*1217dup) c.868dup (p.Ala290GlyfsTer5) c.2638dup (p.Ala880GlyfsTer5) n.2653dup c.151dup (p.Ala51GlyfsTer5) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413795G>A | CA475516701 | LRP5 | c.2610G>A (p.Arg870=) c.*1216G>A (n.*1216G>A) c.867G>A (p.Arg289=) c.2637G>A (p.Arg879=) n.2652G>A c.150G>A (p.Arg50=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68413795G>C | CA475516702 | LRP5 | c.2610G>C (p.Arg870=) c.*1216G>C (n.*1216G>C) c.867G>C (p.Arg289=) c.2637G>C (p.Arg879=) n.2652G>C c.150G>C (p.Arg50=) | |
| 11 | g.68413795G= | CA1980598008 | LRP5 | c.2610G= (p.Arg870=) c.*1216G= (n.*1216G=) c.867G= (p.Arg289=) c.2637G= (p.Arg879=) n.2652G= c.150G= (p.Arg50=) | |
| 11 | g.68413795G>T | CA224274658 | LRP5 | c.2610G>T (p.Arg870=) c.*1216G>T (n.*1216G>T) c.867G>T (p.Arg289=) c.2637G>T (p.Arg879=) n.2652G>T c.150G>T (p.Arg50=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413796G>A | CA381618512 | LRP5 | c.2611G>A (p.Ala871Thr) c.*1217G>A (n.*1217G>A) c.868G>A (p.Ala290Thr) c.2638G>A (p.Ala880Thr) n.2653G>A c.151G>A (p.Ala51Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68413796G>C | CA381618510 | LRP5 | c.2611G>C (p.Ala871Pro) c.*1217G>C (n.*1217G>C) c.868G>C (p.Ala290Pro) c.2638G>C (p.Ala880Pro) n.2653G>C c.151G>C (p.Ala51Pro) | |
| 11 | g.68413796G= | CA1980598010 | LRP5 | c.2611G= (p.Ala871=) c.*1217G= (n.*1217G=) c.868G= (p.Ala290=) c.2638G= (p.Ala880=) n.2653G= c.151G= (p.Ala51=) | |
| 11 | g.68413796G>T | CA6149698 | LRP5 | c.2611G>T (p.Ala871Ser) c.*1217G>T (n.*1217G>T) c.868G>T (p.Ala290Ser) c.2638G>T (p.Ala880Ser) n.2653G>T c.151G>T (p.Ala51Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68413797C>A | CA381618514 | LRP5 | c.2612C>A (p.Ala871Asp) c.*1218C>A (n.*1218C>A) c.869C>A (p.Ala290Asp) c.2639C>A (p.Ala880Asp) n.2654C>A c.152C>A (p.Ala51Asp) | |
| 11 | g.68413797C>G | CA381618515 | LRP5 | c.2612C>G (p.Ala871Gly) c.*1218C>G (n.*1218C>G) c.869C>G (p.Ala290Gly) c.2639C>G (p.Ala880Gly) n.2654C>G c.152C>G (p.Ala51Gly) | |
| 11 | g.68413797C>T | CA381618518 | LRP5 | c.2612C>T (p.Ala871Val) c.*1218C>T (n.*1218C>T) c.869C>T (p.Ala290Val) c.2639C>T (p.Ala880Val) n.2654C>T c.152C>T (p.Ala51Val) | gnomAD v4 |
| 11 | g.68413798C>A | CA475516715 | LRP5 | c.2613C>A (p.Ala871=) c.*1219C>A (n.*1219C>A) c.870C>A (p.Ala290=) c.2640C>A (p.Ala880=) n.2655C>A c.153C>A (p.Ala51=) | |
| 11 | g.68413798C= | CA1980598014 | LRP5 | c.2613C= (p.Ala871=) c.*1219C= (n.*1219C=) c.870C= (p.Ala290=) c.2640C= (p.Ala880=) n.2655C= c.153C= (p.Ala51=) | |
| 11 | g.68413798C>G | CA475516713 | LRP5 | c.2613C>G (p.Ala871=) c.*1219C>G (n.*1219C>G) c.870C>G (p.Ala290=) c.2640C>G (p.Ala880=) n.2655C>G c.153C>G (p.Ala51=) | gnomAD v3 gnomAD v4 |
| 11 | g.68413798C>T | CA6149699 | LRP5 | c.2613C>T (p.Ala871=) c.*1219C>T (n.*1219C>T) c.870C>T (p.Ala290=) c.2640C>T (p.Ala880=) n.2655C>T c.153C>T (p.Ala51=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413799G>A | CA6149700 | LRP5 | c.2614G>A (p.Asp872Asn) c.*1220G>A (n.*1220G>A) c.871G>A (p.Asp291Asn) c.2641G>A (p.Asp881Asn) n.2656G>A c.154G>A (p.Asp52Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413799G>C | CA381618522 | LRP5 | c.2614G>C (p.Asp872His) c.*1220G>C (n.*1220G>C) c.871G>C (p.Asp291His) c.2641G>C (p.Asp881His) n.2656G>C c.154G>C (p.Asp52His) | |
| 11 | g.68413799G= | CA1980598018 | LRP5 | c.2614G= (p.Asp872=) c.*1220G= (n.*1220G=) c.871G= (p.Asp291=) c.2641G= (p.Asp881=) n.2656G= c.154G= (p.Asp52=) | |
| 11 | g.68413799G>T | CA381618523 | LRP5 | c.2614G>T (p.Asp872Tyr) c.*1220G>T (n.*1220G>T) c.871G>T (p.Asp291Tyr) c.2641G>T (p.Asp881Tyr) n.2656G>T c.154G>T (p.Asp52Tyr) | gnomAD v4 |
| 11 | g.68413800A>C | CA381618525 | LRP5 | c.2615A>C (p.Asp872Ala) c.*1221A>C (n.*1221A>C) c.872A>C (p.Asp291Ala) c.2642A>C (p.Asp881Ala) n.2657A>C c.155A>C (p.Asp52Ala) | |
| 11 | g.68413800A>G | CA381618527 | LRP5 | c.2615A>G (p.Asp872Gly) c.*1221A>G (n.*1221A>G) c.872A>G (p.Asp291Gly) c.2642A>G (p.Asp881Gly) n.2657A>G c.155A>G (p.Asp52Gly) | |
| 11 | g.68413800A>T | CA381618528 | LRP5 | c.2615A>T (p.Asp872Val) c.*1221A>T (n.*1221A>T) c.872A>T (p.Asp291Val) c.2642A>T (p.Asp881Val) n.2657A>T c.155A>T (p.Asp52Val) | |
| 11 | g.68413801_68413803del | CA2614714640 | LRP5 | c.2616_2618del (p.Asp872_Lys873delinsGlu) c.*1222_*1224del (n.*1222_*1224del) c.873_875del (p.Asp291_Lys292delinsGlu) c.2643_2645del (p.Asp881_Lys882delinsGlu) n.2658_2660del c.156_158del (p.Asp52_Lys53delinsGlu) | gnomAD v4 |
| 11 | g.68413801C>A | CA224274664 | LRP5 | c.2616C>A (p.Asp872Glu) c.*1222C>A (n.*1222C>A) c.873C>A (p.Asp291Glu) c.2643C>A (p.Asp881Glu) n.2658C>A c.156C>A (p.Asp52Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68413801C= | CA1980598021 | LRP5 | c.2616C= (p.Asp872=) c.*1222C= (n.*1222C=) c.873C= (p.Asp291=) c.2643C= (p.Asp881=) n.2658C= c.156C= (p.Asp52=) | |
| 11 | g.68413801C>G | CA6149701 | LRP5 | c.2616C>G (p.Asp872Glu) c.*1222C>G (n.*1222C>G) c.873C>G (p.Asp291Glu) c.2643C>G (p.Asp881Glu) n.2658C>G c.156C>G (p.Asp52Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68413801C>T | CA475516734 | LRP5 | c.2616C>T (p.Asp872=) c.*1222C>T (n.*1222C>T) c.873C>T (p.Asp291=) c.2643C>T (p.Asp881=) n.2658C>T c.156C>T (p.Asp52=) | |
| 11 | g.68413802A>C | CA381618532 | LRP5 | c.2617A>C (p.Lys873Gln) c.*1223A>C (n.*1223A>C) c.874A>C (p.Lys292Gln) c.2644A>C (p.Lys882Gln) n.2659A>C c.157A>C (p.Lys53Gln) | |
| 11 | g.68413802A>G | CA381618531 | LRP5 | c.2617A>G (p.Lys873Glu) c.*1223A>G (n.*1223A>G) c.874A>G (p.Lys292Glu) c.2644A>G (p.Lys882Glu) n.2659A>G c.157A>G (p.Lys53Glu) | |
| 11 | g.68413802A>T | CA381618529 | LRP5 | c.2617A>T (p.Lys873Ter) c.*1223A>T (n.*1223A>T) c.874A>T (p.Lys292Ter) c.2644A>T (p.Lys882Ter) n.2659A>T c.157A>T (p.Lys53Ter) | |
| 11 | g.68413803A>C | CA381618534 | LRP5 | c.2618A>C (p.Lys873Thr) c.*1224A>C (n.*1224A>C) c.875A>C (p.Lys292Thr) c.2645A>C (p.Lys882Thr) n.2660A>C c.158A>C (p.Lys53Thr) | |
| 11 | g.68413803A>G | CA381618536 | LRP5 | c.2618A>G (p.Lys873Arg) c.*1224A>G (n.*1224A>G) c.875A>G (p.Lys292Arg) c.2645A>G (p.Lys882Arg) n.2660A>G c.158A>G (p.Lys53Arg) | |
| 11 | g.68413803A>T | CA381618538 | LRP5 | c.2618A>T (p.Lys873Met) c.*1224A>T (n.*1224A>T) c.875A>T (p.Lys292Met) c.2645A>T (p.Lys882Met) n.2660A>T c.158A>T (p.Lys53Met) | |
| 11 | g.68413804G>A | CA475516744 | LRP5 | c.2619G>A (p.Lys873=) c.*1225G>A (n.*1225G>A) c.876G>A (p.Lys292=) c.2646G>A (p.Lys882=) n.2661G>A c.159G>A (p.Lys53=) | |
| 11 | g.68413804G>C | CA381618539 | LRP5 | c.2619G>C (p.Lys873Asn) c.*1225G>C (n.*1225G>C) c.876G>C (p.Lys292Asn) c.2646G>C (p.Lys882Asn) n.2661G>C c.159G>C (p.Lys53Asn) | |
| 11 | g.68413804G>T | CA381618540 | LRP5 | c.2619G>T (p.Lys873Asn) c.*1225G>T (n.*1225G>T) c.876G>T (p.Lys292Asn) c.2646G>T (p.Lys882Asn) n.2661G>T c.159G>T (p.Lys53Asn) | |
| 11 | g.68413805A>C | CA381618545 | LRP5 | c.2620A>C (p.Thr874Pro) c.*1226A>C (n.*1226A>C) c.877A>C (p.Thr293Pro) c.2647A>C (p.Thr883Pro) n.2662A>C c.160A>C (p.Thr54Pro) | gnomAD v4 |
| 11 | g.68413805A>G | CA381618543 | LRP5 | c.2620A>G (p.Thr874Ala) c.*1226A>G (n.*1226A>G) c.877A>G (p.Thr293Ala) c.2647A>G (p.Thr883Ala) n.2662A>G c.160A>G (p.Thr54Ala) | |
| 11 | g.68413805A>T | CA381618542 | LRP5 | c.2620A>T (p.Thr874Ser) c.*1226A>T (n.*1226A>T) c.877A>T (p.Thr293Ser) c.2647A>T (p.Thr883Ser) n.2662A>T c.160A>T (p.Thr54Ser) | gnomAD v4 COSMIC |
| 11 | g.68413806C>A | CA381618547 | LRP5 | c.2621C>A (p.Thr874Asn) c.*1227C>A (n.*1227C>A) c.878C>A (p.Thr293Asn) c.2648C>A (p.Thr883Asn) n.2663C>A c.161C>A (p.Thr54Asn) | |
| 11 | g.68413806C>G | CA381618549 | LRP5 | c.2621C>G (p.Thr874Ser) c.*1227C>G (n.*1227C>G) c.878C>G (p.Thr293Ser) c.2648C>G (p.Thr883Ser) n.2663C>G c.161C>G (p.Thr54Ser) | |
| 11 | g.68413806C>T | CA381618551 | LRP5 | c.2621C>T (p.Thr874Ile) c.*1227C>T (n.*1227C>T) c.878C>T (p.Thr293Ile) c.2648C>T (p.Thr883Ile) n.2663C>T c.161C>T (p.Thr54Ile) | |
| 11 | g.68413807T>A | CA475516750 | LRP5 | c.2622T>A (p.Thr874=) c.*1228T>A (n.*1228T>A) c.879T>A (p.Thr293=) c.2649T>A (p.Thr883=) n.2664T>A c.162T>A (p.Thr54=) | |
| 11 | g.68413807T>C | CA475516751 | LRP5 | c.2622T>C (p.Thr874=) c.*1228T>C (n.*1228T>C) c.879T>C (p.Thr293=) c.2649T>C (p.Thr883=) n.2664T>C c.162T>C (p.Thr54=) | |
| 11 | g.68413807T>G | CA475516752 | LRP5 | c.2622T>G (p.Thr874=) c.*1228T>G (n.*1228T>G) c.879T>G (p.Thr293=) c.2649T>G (p.Thr883=) n.2664T>G c.162T>G (p.Thr54=) | |
| 11 | g.68413808A>C | CA381618553 | LRP5 | c.2623A>C (p.Ser875Arg) c.*1229A>C (n.*1229A>C) c.880A>C (p.Ser294Arg) c.2650A>C (p.Ser884Arg) n.2665A>C c.163A>C (p.Ser55Arg) | |
| 11 | g.68413808A>G | CA381618555 | LRP5 | c.2623A>G (p.Ser875Gly) c.*1229A>G (n.*1229A>G) c.880A>G (p.Ser294Gly) c.2650A>G (p.Ser884Gly) n.2665A>G c.163A>G (p.Ser55Gly) | gnomAD v4 |
| 11 | g.68413808A>T | CA381618557 | LRP5 | c.2623A>T (p.Ser875Cys) c.*1229A>T (n.*1229A>T) c.880A>T (p.Ser294Cys) c.2650A>T (p.Ser884Cys) n.2665A>T c.163A>T (p.Ser55Cys) | |
| 11 | g.68413809G>A | CA381618560 | LRP5 | c.2624G>A (p.Ser875Asn) c.*1230G>A (n.*1230G>A) c.881G>A (p.Ser294Asn) c.2651G>A (p.Ser884Asn) n.2666G>A c.164G>A (p.Ser55Asn) | |
| 11 | g.68413809G>C | CA381618563 | LRP5 | c.2624G>C (p.Ser875Thr) c.*1230G>C (n.*1230G>C) c.881G>C (p.Ser294Thr) c.2651G>C (p.Ser884Thr) n.2666G>C c.164G>C (p.Ser55Thr) | |
| 11 | g.68413809G>T | CA381618562 | LRP5 | c.2624G>T (p.Ser875Ile) c.*1230G>T (n.*1230G>T) c.881G>T (p.Ser294Ile) c.2651G>T (p.Ser884Ile) n.2666G>T c.164G>T (p.Ser55Ile) | |
| 11 | g.68413810C>A | CA381618565 | LRP5 | c.2625C>A (p.Ser875Arg) c.*1231C>A (n.*1231C>A) c.882C>A (p.Ser294Arg) c.2652C>A (p.Ser884Arg) n.2667C>A c.165C>A (p.Ser55Arg) | |
| 11 | g.68413810C= | CA1980598023 | LRP5 | c.2625C= (p.Ser875=) c.*1231C= (n.*1231C=) c.882C= (p.Ser294=) c.2652C= (p.Ser884=) n.2667C= c.165C= (p.Ser55=) | |
| 11 | g.68413810C>G | CA381618567 | LRP5 | c.2625C>G (p.Ser875Arg) c.*1231C>G (n.*1231C>G) c.882C>G (p.Ser294Arg) c.2652C>G (p.Ser884Arg) n.2667C>G c.165C>G (p.Ser55Arg) | |
| 11 | g.68413810C>T | CA224274667 | LRP5 | c.2625C>T (p.Ser875=) c.*1231C>T (n.*1231C>T) c.882C>T (p.Ser294=) c.2652C>T (p.Ser884=) n.2667C>T c.165C>T (p.Ser55=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413811G>A | CA381618569 | LRP5 | c.2626G>A (p.Gly876Ser) c.*1232G>A (n.*1232G>A) c.883G>A (p.Gly295Ser) c.2653G>A (p.Gly885Ser) n.2668G>A c.166G>A (p.Gly56Ser) | dbSNP gnomAD v4 COSMIC |
| 11 | g.68413811G>C | CA381618571 | LRP5 | c.2626G>C (p.Gly876Arg) c.*1232G>C (n.*1232G>C) c.883G>C (p.Gly295Arg) c.2653G>C (p.Gly885Arg) n.2668G>C c.166G>C (p.Gly56Arg) | |
| 11 | g.68413811G= | CA1980598027 | LRP5 | c.2626G= (p.Gly876=) c.*1232G= (n.*1232G=) c.883G= (p.Gly295=) c.2653G= (p.Gly885=) n.2668G= c.166G= (p.Gly56=) | |
| 11 | g.68413811G>T | CA381618572 | LRP5 | c.2626G>T (p.Gly876Cys) c.*1232G>T (n.*1232G>T) c.883G>T (p.Gly295Cys) c.2653G>T (p.Gly885Cys) n.2668G>T c.166G>T (p.Gly56Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68413812G>A | CA381618574 | LRP5 | c.2627G>A (p.Gly876Asp) c.*1233G>A (n.*1233G>A) c.884G>A (p.Gly295Asp) c.2654G>A (p.Gly885Asp) n.2669G>A c.167G>A (p.Gly56Asp) | |
| 11 | g.68413812G>C | CA381618576 | LRP5 | c.2627G>C (p.Gly876Ala) c.*1233G>C (n.*1233G>C) c.884G>C (p.Gly295Ala) c.2654G>C (p.Gly885Ala) n.2669G>C c.167G>C (p.Gly56Ala) | |
| 11 | g.68413812G>T | CA381618578 | LRP5 | c.2627G>T (p.Gly876Val) c.*1233G>T (n.*1233G>T) c.884G>T (p.Gly295Val) c.2654G>T (p.Gly885Val) n.2669G>T c.167G>T (p.Gly56Val) | |
| 11 | g.68413813C>A | CA6149702 | LRP5 | c.2628C>A (p.Gly876=) c.*1234C>A (n.*1234C>A) c.885C>A (p.Gly295=) c.2655C>A (p.Gly885=) n.2670C>A c.168C>A (p.Gly56=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68413813C= | CA1980598029 | LRP5 | c.2628C= (p.Gly876=) c.*1234C= (n.*1234C=) c.885C= (p.Gly295=) c.2655C= (p.Gly885=) n.2670C= c.168C= (p.Gly56=) | |
| 11 | g.68413813C>G | CA475516762 | LRP5 | c.2628C>G (p.Gly876=) c.*1234C>G (n.*1234C>G) c.885C>G (p.Gly295=) c.2655C>G (p.Gly885=) n.2670C>G c.168C>G (p.Gly56=) | |
| 11 | g.68413813C>T | CA475516763 | LRP5 | c.2628C>T (p.Gly876=) c.*1234C>T (n.*1234C>T) c.885C>T (p.Gly295=) c.2655C>T (p.Gly885=) n.2670C>T c.168C>T (p.Gly56=) | |
| 11 | g.68413814C>A | CA475516764 | LRP5 | c.2629C>A (p.Arg877=) c.*1235C>A (n.*1235C>A) c.886C>A (p.Arg296=) c.2656C>A (p.Arg886=) n.2671C>A c.169C>A (p.Arg57=) | |
| 11 | g.68413814C= | CA1980598032 | LRP5 | c.2629C= (p.Arg877=) c.*1235C= (n.*1235C=) c.886C= (p.Arg296=) c.2656C= (p.Arg886=) n.2671C= c.169C= (p.Arg57=) | |
| 11 | g.68413814C>G | CA381618580 | LRP5 | c.2629C>G (p.Arg877Gly) c.*1235C>G (n.*1235C>G) c.886C>G (p.Arg296Gly) c.2656C>G (p.Arg886Gly) n.2671C>G c.169C>G (p.Arg57Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68413814C>T | CA6149703 | LRP5 | c.2629C>T (p.Arg877Trp) c.*1235C>T (n.*1235C>T) c.886C>T (p.Arg296Trp) c.2656C>T (p.Arg886Trp) n.2671C>T c.169C>T (p.Arg57Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413815G>A | CA6149704 | LRP5 | c.2630G>A (p.Arg877Gln) c.*1236G>A (n.*1236G>A) c.887G>A (p.Arg296Gln) c.2657G>A (p.Arg886Gln) n.2672G>A c.170G>A (p.Arg57Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68413815G>C | CA381618586 | LRP5 | c.2630G>C (p.Arg877Pro) c.*1236G>C (n.*1236G>C) c.887G>C (p.Arg296Pro) c.2657G>C (p.Arg886Pro) n.2672G>C c.170G>C (p.Arg57Pro) | |
| 11 | g.68413815G= | CA1980598037 | LRP5 | c.2630G= (p.Arg877=) c.*1236G= (n.*1236G=) c.887G= (p.Arg296=) c.2657G= (p.Arg886=) n.2672G= c.170G= (p.Arg57=) | |
| 11 | g.68413815G>T | CA381618584 | LRP5 | c.2630G>T (p.Arg877Leu) c.*1236G>T (n.*1236G>T) c.887G>T (p.Arg296Leu) c.2657G>T (p.Arg886Leu) n.2672G>T c.170G>T (p.Arg57Leu) | |
| 11 | g.68413816G>A | CA6149705 | LRP5 | c.2631G>A (p.Arg877=) c.*1237G>A (n.*1237G>A) c.888G>A (p.Arg296=) c.2658G>A (p.Arg886=) n.2673G>A c.171G>A (p.Arg57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413816G>C | CA475516767 | LRP5 | c.2631G>C (p.Arg877=) c.*1237G>C (n.*1237G>C) c.888G>C (p.Arg296=) c.2658G>C (p.Arg886=) n.2673G>C c.171G>C (p.Arg57=) | |
| 11 | g.68413816G= | CA1980598040 | LRP5 | c.2631G= (p.Arg877=) c.*1237G= (n.*1237G=) c.888G= (p.Arg296=) c.2658G= (p.Arg886=) n.2673G= c.171G= (p.Arg57=) | |
| 11 | g.68413816G>T | CA475516768 | LRP5 | c.2631G>T (p.Arg877=) c.*1237G>T (n.*1237G>T) c.888G>T (p.Arg296=) c.2658G>T (p.Arg886=) n.2673G>T c.171G>T (p.Arg57=) | |
| 11 | g.68413817A= | CA1980598042 | LRP5 | c.2632A= (p.Asn878=) c.*1238A= (n.*1238A=) c.889A= (p.Asn297=) c.2659A= (p.Asn887=) n.2674A= c.172A= (p.Asn58=) | |
| 11 | g.68413817A>C | CA381618589 | LRP5 | c.2632A>C (p.Asn878His) c.*1238A>C (n.*1238A>C) c.889A>C (p.Asn297His) c.2659A>C (p.Asn887His) n.2674A>C c.172A>C (p.Asn58His) | |
| 11 | g.68413817A>G | CA381618591 | LRP5 | c.2632A>G (p.Asn878Asp) c.*1238A>G (n.*1238A>G) c.889A>G (p.Asn297Asp) c.2659A>G (p.Asn887Asp) n.2674A>G c.172A>G (p.Asn58Asp) | dbSNP |
| 11 | g.68413817A>T | CA381618593 | LRP5 | c.2632A>T (p.Asn878Tyr) c.*1238A>T (n.*1238A>T) c.889A>T (p.Asn297Tyr) c.2659A>T (p.Asn887Tyr) n.2674A>T c.172A>T (p.Asn58Tyr) | |
| 11 | g.68413818A>C | CA381618595 | LRP5 | c.2633A>C (p.Asn878Thr) c.*1239A>C (n.*1239A>C) c.890A>C (p.Asn297Thr) c.2660A>C (p.Asn887Thr) n.2675A>C c.173A>C (p.Asn58Thr) | |
| 11 | g.68413818A>G | CA381618597 | LRP5 | c.2633A>G (p.Asn878Ser) c.*1239A>G (n.*1239A>G) c.890A>G (p.Asn297Ser) c.2660A>G (p.Asn887Ser) n.2675A>G c.173A>G (p.Asn58Ser) | |
| 11 | g.68413818A>T | CA381618598 | LRP5 | c.2633A>T (p.Asn878Ile) c.*1239A>T (n.*1239A>T) c.890A>T (p.Asn297Ile) c.2660A>T (p.Asn887Ile) n.2675A>T c.173A>T (p.Asn58Ile) | |
| 11 | g.68413819C>A | CA381618602 | LRP5 | c.2634C>A (p.Asn878Lys) c.*1240C>A (n.*1240C>A) c.891C>A (p.Asn297Lys) c.2661C>A (p.Asn887Lys) n.2676C>A c.174C>A (p.Asn58Lys) | dbSNP |
| 11 | g.68413819C= | CA1980598044 | LRP5 | c.2634C= (p.Asn878=) c.*1240C= (n.*1240C=) c.891C= (p.Asn297=) c.2661C= (p.Asn887=) n.2676C= c.174C= (p.Asn58=) | |
| 11 | g.68413819C>G | CA381618600 | LRP5 | c.2634C>G (p.Asn878Lys) c.*1240C>G (n.*1240C>G) c.891C>G (p.Asn297Lys) c.2661C>G (p.Asn887Lys) n.2676C>G c.174C>G (p.Asn58Lys) | |
| 11 | g.68413819C>T | CA475516771 | LRP5 | c.2634C>T (p.Asn878=) c.*1240C>T (n.*1240C>T) c.891C>T (p.Asn297=) c.2661C>T (p.Asn887=) n.2676C>T c.174C>T (p.Asn58=) | ClinVar gnomAD v4 |
| 11 | g.68413820C>A | CA381618603 | LRP5 | c.2635C>A (p.Arg879Ser) c.*1241C>A (n.*1241C>A) c.892C>A (p.Arg298Ser) c.2662C>A (p.Arg888Ser) n.2677C>A c.175C>A (p.Arg59Ser) | |
| 11 | g.68413820C= | CA1980598046 | LRP5 | c.2635C= (p.Arg879=) c.*1241C= (n.*1241C=) c.892C= (p.Arg298=) c.2662C= (p.Arg888=) n.2677C= c.175C= (p.Arg59=) | |
| 11 | g.68413820C>G | CA381618605 | LRP5 | c.2635C>G (p.Arg879Gly) c.*1241C>G (n.*1241C>G) c.892C>G (p.Arg298Gly) c.2662C>G (p.Arg888Gly) n.2677C>G c.175C>G (p.Arg59Gly) | |
| 11 | g.68413820C>T | CA224274671 | LRP5 | c.2635C>T (p.Arg879Cys) c.*1241C>T (n.*1241C>T) c.892C>T (p.Arg298Cys) c.2662C>T (p.Arg888Cys) n.2677C>T c.175C>T (p.Arg59Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68413821G>A | CA381618608 | LRP5 | c.2636G>A (p.Arg879His) c.*1242G>A (n.*1242G>A) c.893G>A (p.Arg298His) c.2663G>A (p.Arg888His) n.2678G>A c.176G>A (p.Arg59His) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68413821G>C | CA381618609 | LRP5 | c.2636G>C (p.Arg879Pro) c.*1242G>C (n.*1242G>C) c.893G>C (p.Arg298Pro) c.2663G>C (p.Arg888Pro) n.2678G>C c.176G>C (p.Arg59Pro) | gnomAD v4 |
| 11 | g.68413821G= | CA1980598047 | LRP5 | c.2636G= (p.Arg879=) c.*1242G= (n.*1242G=) c.893G= (p.Arg298=) c.2663G= (p.Arg888=) n.2678G= c.176G= (p.Arg59=) | |
| 11 | g.68413821G>T | CA381618611 | LRP5 | c.2636G>T (p.Arg879Leu) c.*1242G>T (n.*1242G>T) c.893G>T (p.Arg298Leu) c.2663G>T (p.Arg888Leu) n.2678G>T c.176G>T (p.Arg59Leu) | |
| 11 | g.68413822C>A | CA475516776 | LRP5 | c.2637C>A (p.Arg879=) c.*1243C>A (n.*1243C>A) c.894C>A (p.Arg298=) c.2664C>A (p.Arg888=) n.2679C>A c.177C>A (p.Arg59=) | |
| 11 | g.68413822C= | CA1980598050 | LRP5 | c.2637C= (p.Arg879=) c.*1243C= (n.*1243C=) c.894C= (p.Arg298=) c.2664C= (p.Arg888=) n.2679C= c.177C= (p.Arg59=) | |
| 11 | g.68413822C>G | CA475516777 | LRP5 | c.2637C>G (p.Arg879=) c.*1243C>G (n.*1243C>G) c.894C>G (p.Arg298=) c.2664C>G (p.Arg888=) n.2679C>G c.177C>G (p.Arg59=) | |
| 11 | g.68413822C>T | CA6149706 | LRP5 | c.2637C>T (p.Arg879=) c.*1243C>T (n.*1243C>T) c.894C>T (p.Arg298=) c.2664C>T (p.Arg888=) n.2679C>T c.177C>T (p.Arg59=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413823A= | CA1980598055 | LRP5 | c.2638A= (p.Thr880=) c.*1244A= (n.*1244A=) c.895A= (p.Thr299=) c.2665A= (p.Thr889=) n.2680A= c.178A= (p.Thr60=) | |
| 11 | g.68413823A>C | CA381618613 | LRP5 | c.2638A>C (p.Thr880Pro) c.*1244A>C (n.*1244A>C) c.895A>C (p.Thr299Pro) c.2665A>C (p.Thr889Pro) n.2680A>C c.178A>C (p.Thr60Pro) | dbSNP |
| 11 | g.68413823A>G | CA381618617 | LRP5 | c.2638A>G (p.Thr880Ala) c.*1244A>G (n.*1244A>G) c.895A>G (p.Thr299Ala) c.2665A>G (p.Thr889Ala) n.2680A>G c.178A>G (p.Thr60Ala) | |
| 11 | g.68413823A>T | CA381618615 | LRP5 | c.2638A>T (p.Thr880Ser) c.*1244A>T (n.*1244A>T) c.895A>T (p.Thr299Ser) c.2665A>T (p.Thr889Ser) n.2680A>T c.178A>T (p.Thr60Ser) | |
| 11 | g.68413824C>A | CA381618618 | LRP5 | c.2639C>A (p.Thr880Asn) c.*1245C>A (n.*1245C>A) c.896C>A (p.Thr299Asn) c.2666C>A (p.Thr889Asn) n.2681C>A c.179C>A (p.Thr60Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68413824C= | CA1980598057 | LRP5 | c.2639C= (p.Thr880=) c.*1245C= (n.*1245C=) c.896C= (p.Thr299=) c.2666C= (p.Thr889=) n.2681C= c.179C= (p.Thr60=) | |
| 11 | g.68413824C>G | CA381618619 | LRP5 | c.2639C>G (p.Thr880Ser) c.*1245C>G (n.*1245C>G) c.896C>G (p.Thr299Ser) c.2666C>G (p.Thr889Ser) n.2681C>G c.179C>G (p.Thr60Ser) | dbSNP |
| 11 | g.68413824C>T | CA6149707 | LRP5 | c.2639C>T (p.Thr880Ile) c.*1245C>T (n.*1245C>T) c.896C>T (p.Thr299Ile) c.2666C>T (p.Thr889Ile) n.2681C>T c.179C>T (p.Thr60Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68413825C>A | CA475516782 | LRP5 | c.2640C>A (p.Thr880=) c.*1246C>A (n.*1246C>A) c.897C>A (p.Thr299=) c.2667C>A (p.Thr889=) n.2682C>A c.180C>A (p.Thr60=) | |
| 11 | g.68413825C>G | CA475516780 | LRP5 | c.2640C>G (p.Thr880=) c.*1246C>G (n.*1246C>G) c.897C>G (p.Thr299=) c.2667C>G (p.Thr889=) n.2682C>G c.180C>G (p.Thr60=) | |
| 11 | g.68413825C>T | CA475516781 | LRP5 | c.2640C>T (p.Thr880=) c.*1246C>T (n.*1246C>T) c.897C>T (p.Thr299=) c.2667C>T (p.Thr889=) n.2682C>T c.180C>T (p.Thr60=) | |
| 11 | g.68413826C>A | CA381618622 | LRP5 | c.2641C>A (p.Leu881Ile) c.*1247C>A (n.*1247C>A) c.898C>A (p.Leu300Ile) c.2668C>A (p.Leu890Ile) n.2683C>A c.181C>A (p.Leu61Ile) | |
| 11 | g.68413826C= | CA1980598065 | LRP5 | c.2641C= (p.Leu881=) c.*1247C= (n.*1247C=) c.898C= (p.Leu300=) c.2668C= (p.Leu890=) n.2683C= c.181C= (p.Leu61=) | |
| 11 | g.68413826C>G | CA381618624 | LRP5 | c.2641C>G (p.Leu881Val) c.*1247C>G (n.*1247C>G) c.898C>G (p.Leu300Val) c.2668C>G (p.Leu890Val) n.2683C>G c.181C>G (p.Leu61Val) | |
| 11 | g.68413826C>T | CA381618625 | LRP5 | c.2641C>T (p.Leu881Phe) c.*1247C>T (n.*1247C>T) c.898C>T (p.Leu300Phe) c.2668C>T (p.Leu890Phe) n.2683C>T c.181C>T (p.Leu61Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413827T>A | CA381618627 | LRP5 | c.2642T>A (p.Leu881His) c.*1248T>A (n.*1248T>A) c.899T>A (p.Leu300His) c.2669T>A (p.Leu890His) n.2684T>A c.182T>A (p.Leu61His) | |
| 11 | g.68413827T>C | CA381618628 | LRP5 | c.2642T>C (p.Leu881Pro) c.*1248T>C (n.*1248T>C) c.899T>C (p.Leu300Pro) c.2669T>C (p.Leu890Pro) n.2684T>C c.182T>C (p.Leu61Pro) | |
| 11 | g.68413827T>G | CA381618630 | LRP5 | c.2642T>G (p.Leu881Arg) c.*1248T>G (n.*1248T>G) c.899T>G (p.Leu300Arg) c.2669T>G (p.Leu890Arg) n.2684T>G c.182T>G (p.Leu61Arg) | COSMIC |
| 11 | g.68413828C>A | CA475516784 | LRP5 | c.2643C>A (p.Leu881=) c.*1249C>A (n.*1249C>A) c.900C>A (p.Leu300=) c.2670C>A (p.Leu890=) n.2685C>A c.183C>A (p.Leu61=) | |
| 11 | g.68413828C= | CA1980598068 | LRP5 | c.2643C= (p.Leu881=) c.*1249C= (n.*1249C=) c.900C= (p.Leu300=) c.2670C= (p.Leu890=) n.2685C= c.183C= (p.Leu61=) | |
| 11 | g.68413828C>G | CA475516785 | LRP5 | c.2643C>G (p.Leu881=) c.*1249C>G (n.*1249C>G) c.900C>G (p.Leu300=) c.2670C>G (p.Leu890=) n.2685C>G c.183C>G (p.Leu61=) | |
| 11 | g.68413828C>T | CA475516787 | LRP5 | c.2643C>T (p.Leu881=) c.*1249C>T (n.*1249C>T) c.900C>T (p.Leu300=) c.2670C>T (p.Leu890=) n.2685C>T c.183C>T (p.Leu61=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68413829A>C | CA381618632 | LRP5 | c.2644A>C (p.Ile882Leu) c.*1250A>C (n.*1250A>C) c.901A>C (p.Ile301Leu) c.2671A>C (p.Ile891Leu) n.2686A>C c.184A>C (p.Ile62Leu) | |
| 11 | g.68413829A>G | CA381618634 | LRP5 | c.2644A>G (p.Ile882Val) c.*1250A>G (n.*1250A>G) c.901A>G (p.Ile301Val) c.2671A>G (p.Ile891Val) n.2686A>G c.184A>G (p.Ile62Val) | |
| 11 | g.68413829A>T | CA381618636 | LRP5 | c.2644A>T (p.Ile882Phe) c.*1250A>T (n.*1250A>T) c.901A>T (p.Ile301Phe) c.2671A>T (p.Ile891Phe) n.2686A>T c.184A>T (p.Ile62Phe) | |
| 11 | g.68413830T>A | CA381618637 | LRP5 | c.2645T>A (p.Ile882Asn) c.*1251T>A (n.*1251T>A) c.902T>A (p.Ile301Asn) c.2672T>A (p.Ile891Asn) n.2687T>A c.185T>A (p.Ile62Asn) | |
| 11 | g.68413830T>C | CA381618639 | LRP5 | c.2645T>C (p.Ile882Thr) c.*1251T>C (n.*1251T>C) c.902T>C (p.Ile301Thr) c.2672T>C (p.Ile891Thr) n.2687T>C c.185T>C (p.Ile62Thr) | |
| 11 | g.68413830T>G | CA381618638 | LRP5 | c.2645T>G (p.Ile882Ser) c.*1251T>G (n.*1251T>G) c.902T>G (p.Ile301Ser) c.2672T>G (p.Ile891Ser) n.2687T>G c.185T>G (p.Ile62Ser) | |
| 11 | g.68413831C>A | CA475516802 | LRP5 | c.2646C>A (p.Ile882=) c.*1252C>A (n.*1252C>A) c.903C>A (p.Ile301=) c.2673C>A (p.Ile891=) n.2688C>A c.186C>A (p.Ile62=) | |
| 11 | g.68413831C= | CA1980598071 | LRP5 | c.2646C= (p.Ile882=) c.*1252C= (n.*1252C=) c.903C= (p.Ile301=) c.2673C= (p.Ile891=) n.2688C= c.186C= (p.Ile62=) | |
| 11 | g.68413831C>G | CA6149708 | LRP5 | c.2646C>G (p.Ile882Met) c.*1252C>G (n.*1252C>G) c.903C>G (p.Ile301Met) c.2673C>G (p.Ile891Met) n.2688C>G c.186C>G (p.Ile62Met) | dbSNP ExAC gnomAD v2 |
| 11 | g.68413831C>T | CA475516798 | LRP5 | c.2646C>T (p.Ile882=) c.*1252C>T (n.*1252C>T) c.903C>T (p.Ile301=) c.2673C>T (p.Ile891=) n.2688C>T c.186C>T (p.Ile62=) | |
| 11 | g.68413832C>A | CA381618640 | LRP5 | c.2647C>A (p.Gln883Lys) c.*1253C>A (n.*1253C>A) c.904C>A (p.Gln302Lys) c.2674C>A (p.Gln892Lys) n.2689C>A c.187C>A (p.Gln63Lys) | dbSNP gnomAD v2 |
| 11 | g.68413832C= | CA1980598073 | LRP5 | c.2647C= (p.Gln883=) c.*1253C= (n.*1253C=) c.904C= (p.Gln302=) c.2674C= (p.Gln892=) n.2689C= c.187C= (p.Gln63=) | |
| 11 | g.68413832C>G | CA381618641 | LRP5 | c.2647C>G (p.Gln883Glu) c.*1253C>G (n.*1253C>G) c.904C>G (p.Gln302Glu) c.2674C>G (p.Gln892Glu) n.2689C>G c.187C>G (p.Gln63Glu) | |
| 11 | g.68413832C>T | CA381618642 | LRP5 | c.2647C>T (p.Gln883Ter) c.*1253C>T (n.*1253C>T) c.904C>T (p.Gln302Ter) c.2674C>T (p.Gln892Ter) n.2689C>T c.187C>T (p.Gln63Ter) | ClinVar gnomAD v4 |
| 11 | g.68413833A= | CA1980598075 | LRP5 | c.2648A= (p.Gln883=) c.*1254A= (n.*1254A=) c.905A= (p.Gln302=) c.2675A= (p.Gln892=) n.2690A= c.188A= (p.Gln63=) | |
| 11 | g.68413833A>C | CA381618643 | LRP5 | c.2648A>C (p.Gln883Pro) c.*1254A>C (n.*1254A>C) c.905A>C (p.Gln302Pro) c.2675A>C (p.Gln892Pro) n.2690A>C c.188A>C (p.Gln63Pro) | gnomAD v4 |
| 11 | g.68413833A>G | CA381618644 | LRP5 | c.2648A>G (p.Gln883Arg) c.*1254A>G (n.*1254A>G) c.905A>G (p.Gln302Arg) c.2675A>G (p.Gln892Arg) n.2690A>G c.188A>G (p.Gln63Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68413833A>T | CA381618645 | LRP5 | c.2648A>T (p.Gln883Leu) c.*1254A>T (n.*1254A>T) c.905A>T (p.Gln302Leu) c.2675A>T (p.Gln892Leu) n.2690A>T c.188A>T (p.Gln63Leu) | |
| 11 | g.68413834G>A | CA475516806 | LRP5 | c.2649G>A (p.Gln883=) c.*1255G>A (n.*1255G>A) c.906G>A (p.Gln302=) c.2676G>A (p.Gln892=) n.2691G>A c.189G>A (p.Gln63=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68413834G>C | CA381618646 | LRP5 | c.2649G>C (p.Gln883His) c.*1255G>C (n.*1255G>C) c.906G>C (p.Gln302His) c.2676G>C (p.Gln892His) n.2691G>C c.189G>C (p.Gln63His) | |
| 11 | g.68413834G= | CA1980598077 | LRP5 | c.2649G= (p.Gln883=) c.*1255G= (n.*1255G=) c.906G= (p.Gln302=) c.2676G= (p.Gln892=) n.2691G= c.189G= (p.Gln63=) | |
| 11 | g.68413834G>T | CA381618647 | LRP5 | c.2649G>T (p.Gln883His) c.*1255G>T (n.*1255G>T) c.906G>T (p.Gln302His) c.2676G>T (p.Gln892His) n.2691G>T c.189G>T (p.Gln63His) | |
| 11 | g.68413835G>A | CA381618648 | LRP5 | c.2650G>A (p.Gly884Ser) c.*1256G>A (n.*1256G>A) c.907G>A (p.Gly303Ser) c.2677G>A (p.Gly893Ser) n.2692G>A c.190G>A (p.Gly64Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68413835G>C | CA381618649 | LRP5 | c.2650G>C (p.Gly884Arg) c.*1256G>C (n.*1256G>C) c.907G>C (p.Gly303Arg) c.2677G>C (p.Gly893Arg) n.2692G>C c.190G>C (p.Gly64Arg) | |
| 11 | g.68413835G= | CA1980598080 | LRP5 | c.2650G= (p.Gly884=) c.*1256G= (n.*1256G=) c.907G= (p.Gly303=) c.2677G= (p.Gly893=) n.2692G= c.190G= (p.Gly64=) | |
| 11 | g.68413835G>T | CA381618650 | LRP5 | c.2650G>T (p.Gly884Cys) c.*1256G>T (n.*1256G>T) c.907G>T (p.Gly303Cys) c.2677G>T (p.Gly893Cys) n.2692G>T c.190G>T (p.Gly64Cys) | |
| 11 | g.68413836G>A | CA381618652 | LRP5 | c.2651G>A (p.Gly884Asp) c.*1257G>A (n.*1257G>A) c.908G>A (p.Gly303Asp) c.2678G>A (p.Gly893Asp) n.2693G>A c.191G>A (p.Gly64Asp) | |
| 11 | g.68413836G>C | CA381618653 | LRP5 | c.2651G>C (p.Gly884Ala) c.*1257G>C (n.*1257G>C) c.908G>C (p.Gly303Ala) c.2678G>C (p.Gly893Ala) n.2693G>C c.191G>C (p.Gly64Ala) | |
| 11 | g.68413836G>T | CA381618651 | LRP5 | c.2651G>T (p.Gly884Val) c.*1257G>T (n.*1257G>T) c.908G>T (p.Gly303Val) c.2678G>T (p.Gly893Val) n.2693G>T c.191G>T (p.Gly64Val) | |
| 11 | g.68413837C>A | CA475516812 | LRP5 | c.2652C>A (p.Gly884=) c.*1258C>A (n.*1258C>A) c.909C>A (p.Gly303=) c.2679C>A (p.Gly893=) n.2694C>A c.192C>A (p.Gly64=) | |
| 11 | g.68413837C>G | CA475516813 | LRP5 | c.2652C>G (p.Gly884=) c.*1258C>G (n.*1258C>G) c.909C>G (p.Gly303=) c.2679C>G (p.Gly893=) n.2694C>G c.192C>G (p.Gly64=) | |
| 11 | g.68413837C>T | CA475516814 | LRP5 | c.2652C>T (p.Gly884=) c.*1258C>T (n.*1258C>T) c.909C>T (p.Gly303=) c.2679C>T (p.Gly893=) n.2694C>T c.192C>T (p.Gly64=) | |
| 11 | g.68413838C>A | CA381618654 | LRP5 | c.2653C>A (p.His885Asn) c.*1259C>A (n.*1259C>A) c.910C>A (p.His304Asn) c.2680C>A (p.His894Asn) n.2695C>A c.193C>A (p.His65Asn) | |
| 11 | g.68413838C= | CA1980598083 | LRP5 | c.2653C= (p.His885=) c.*1259C= (n.*1259C=) c.910C= (p.His304=) c.2680C= (p.His894=) n.2695C= c.193C= (p.His65=) | |
| 11 | g.68413838C>G | CA381618655 | LRP5 | c.2653C>G (p.His885Asp) c.*1259C>G (n.*1259C>G) c.910C>G (p.His304Asp) c.2680C>G (p.His894Asp) n.2695C>G c.193C>G (p.His65Asp) | |
| 11 | g.68413838C>T | CA224274675 | LRP5 | c.2653C>T (p.His885Tyr) c.*1259C>T (n.*1259C>T) c.910C>T (p.His304Tyr) c.2680C>T (p.His894Tyr) n.2695C>T c.193C>T (p.His65Tyr) | dbSNP |
| 11 | g.68413839A= | CA1980598085 | LRP5 | c.2654A= (p.His885=) c.*1260A= (n.*1260A=) c.911A= (p.His304=) c.2681A= (p.His894=) n.2696A= c.194A= (p.His65=) | |
| 11 | g.68413839A>C | CA381618656 | LRP5 | c.2654A>C (p.His885Pro) c.*1260A>C (n.*1260A>C) c.911A>C (p.His304Pro) c.2681A>C (p.His894Pro) n.2696A>C c.194A>C (p.His65Pro) | |
| 11 | g.68413839A>G | CA381618657 | LRP5 | c.2654A>G (p.His885Arg) c.*1260A>G (n.*1260A>G) c.911A>G (p.His304Arg) c.2681A>G (p.His894Arg) n.2696A>G c.194A>G (p.His65Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68413839A>T | CA381618658 | LRP5 | c.2654A>T (p.His885Leu) c.*1260A>T (n.*1260A>T) c.911A>T (p.His304Leu) c.2681A>T (p.His894Leu) n.2696A>T c.194A>T (p.His65Leu) | |
| 11 | g.68413840C>A | CA381618659 | LRP5 | c.2655C>A (p.His885Gln) c.*1261C>A (n.*1261C>A) c.912C>A (p.His304Gln) c.2682C>A (p.His894Gln) n.2697C>A c.195C>A (p.His65Gln) | |
| 11 | g.68413840C>G | CA381618660 | LRP5 | c.2655C>G (p.His885Gln) c.*1261C>G (n.*1261C>G) c.912C>G (p.His304Gln) c.2682C>G (p.His894Gln) n.2697C>G c.195C>G (p.His65Gln) | |
| 11 | g.68413840C>T | CA475516824 | LRP5 | c.2655C>T (p.His885=) c.*1261C>T (n.*1261C>T) c.912C>T (p.His304=) c.2682C>T (p.His894=) n.2697C>T c.195C>T (p.His65=) | gnomAD v4 |
| 11 | g.68413841C>A | CA381618661 | LRP5 | c.2656C>A (p.Leu886Met) c.*1262C>A (n.*1262C>A) c.913C>A (p.Leu305Met) c.2683C>A (p.Leu895Met) n.2698C>A c.196C>A (p.Leu66Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413841C= | CA1980598088 | LRP5 | c.2656C= (p.Leu886=) c.*1262C= (n.*1262C=) c.913C= (p.Leu305=) c.2683C= (p.Leu895=) n.2698C= c.196C= (p.Leu66=) | |
| 11 | g.68413841C>G | CA381618662 | LRP5 | c.2656C>G (p.Leu886Val) c.*1262C>G (n.*1262C>G) c.913C>G (p.Leu305Val) c.2683C>G (p.Leu895Val) n.2698C>G c.196C>G (p.Leu66Val) | |
| 11 | g.68413841C>T | CA475516825 | LRP5 | c.2656C>T (p.Leu886=) c.*1262C>T (n.*1262C>T) c.913C>T (p.Leu305=) c.2683C>T (p.Leu895=) n.2698C>T c.196C>T (p.Leu66=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68413842T>A | CA381618663 | LRP5 | c.2657T>A (p.Leu886Gln) c.*1263T>A (n.*1263T>A) c.914T>A (p.Leu305Gln) c.2684T>A (p.Leu895Gln) n.2699T>A c.197T>A (p.Leu66Gln) | |
| 11 | g.68413842T>C | CA381618664 | LRP5 | c.2657T>C (p.Leu886Pro) c.*1263T>C (n.*1263T>C) c.914T>C (p.Leu305Pro) c.2684T>C (p.Leu895Pro) n.2699T>C c.197T>C (p.Leu66Pro) | |
| 11 | g.68413842T>G | CA381618665 | LRP5 | c.2657T>G (p.Leu886Arg) c.*1263T>G (n.*1263T>G) c.914T>G (p.Leu305Arg) c.2684T>G (p.Leu895Arg) n.2699T>G c.197T>G (p.Leu66Arg) |