| 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 |