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.68433606_68433657dup | CA599954291 | LRP5 | c.3768_3819dup (p.Ile1274AlafsTer25) c.*2374_*2425dup (n.*2374_*2425dup) c.2025_2076dup (p.Ile693AlafsTer25) c.3795_3846dup (p.Ile1283AlafsTer25) n.3810_3861dup c.1308_1359dup (p.Ile454AlafsTer25) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68433641C>A | CA381613651 | LRP5 | c.3803C>A (p.Thr1268Lys) c.*2409C>A (n.*2409C>A) c.2060C>A (p.Thr687Lys) c.3830C>A (p.Thr1277Lys) n.3845C>A c.1343C>A (p.Thr448Lys) | |
| 11 | g.68433641C= | CA1980622015 | LRP5 | c.3803C= (p.Thr1268=) c.*2409C= (n.*2409C=) c.2060C= (p.Thr687=) c.3830C= (p.Thr1277=) n.3845C= c.1343C= (p.Thr448=) | |
| 11 | g.68433641C>G | CA381613652 | LRP5 | c.3803C>G (p.Thr1268Arg) c.*2409C>G (n.*2409C>G) c.2060C>G (p.Thr687Arg) c.3830C>G (p.Thr1277Arg) n.3845C>G c.1343C>G (p.Thr448Arg) | dbSNP |
| 11 | g.68433641C>T | CA381613653 | LRP5 | c.3803C>T (p.Thr1268Ile) c.*2409C>T (n.*2409C>T) c.2060C>T (p.Thr687Ile) c.3830C>T (p.Thr1277Ile) n.3845C>T c.1343C>T (p.Thr448Ile) | |
| 11 | g.68433641_68433642delinsCA | CA1980622012 | LRP5 | c.3803_3804delinsCA (p.Thr1268=) c.*2409_*2410delinsCA (n.*2409_*2410delinsCA) c.2060_2061delinsCA (p.Thr687=) c.3830_3831delinsCA (p.Thr1277=) n.3845_3846delinsCA c.1343_1344delinsCA (p.Thr448=) | |
| 11 | g.68433642del | CA224250766 | LRP5 | c.3804del (p.Glu1270ArgfsTer?) c.*2410del (n.*2410del) c.2061del (p.Glu689ArgfsTer?) c.3831del (p.Glu1279ArgfsTer?) n.3846del c.1344del (p.Glu450ArgfsTer?) | ClinVar dbSNP |
| 11 | g.68433642A= | CA1980622017 | LRP5 | c.3804A= (p.Thr1268=) c.*2410A= (n.*2410A=) c.2061A= (p.Thr687=) c.3831A= (p.Thr1277=) n.3846A= c.1344A= (p.Thr448=) | |
| 11 | g.68433642A>C | CA475460742 | LRP5 | c.3804A>C (p.Thr1268=) c.*2410A>C (n.*2410A>C) c.2061A>C (p.Thr687=) c.3831A>C (p.Thr1277=) n.3846A>C c.1344A>C (p.Thr448=) | |
| 11 | g.68433642A>G | CA475460744 | LRP5 | c.3804A>G (p.Thr1268=) c.*2410A>G (n.*2410A>G) c.2061A>G (p.Thr687=) c.3831A>G (p.Thr1277=) n.3846A>G c.1344A>G (p.Thr448=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68433642A>T | CA475460743 | LRP5 | c.3804A>T (p.Thr1268=) c.*2410A>T (n.*2410A>T) c.2061A>T (p.Thr687=) c.3831A>T (p.Thr1277=) n.3846A>T c.1344A>T (p.Thr448=) | |
| 11 | g.68433643G>A | CA381613654 | LRP5 | c.3805G>A (p.Gly1269Arg) c.*2411G>A (n.*2411G>A) c.2062G>A (p.Gly688Arg) c.3832G>A (p.Gly1278Arg) n.3847G>A c.1345G>A (p.Gly449Arg) | gnomAD v4 |
| 11 | g.68433643G>C | CA381613655 | LRP5 | c.3805G>C (p.Gly1269Arg) c.*2411G>C (n.*2411G>C) c.2062G>C (p.Gly688Arg) c.3832G>C (p.Gly1278Arg) n.3847G>C c.1345G>C (p.Gly449Arg) | |
| 11 | g.68433643G>T | CA381613656 | LRP5 | c.3805G>T (p.Gly1269Trp) c.*2411G>T (n.*2411G>T) c.2062G>T (p.Gly688Trp) c.3832G>T (p.Gly1278Trp) n.3847G>T c.1345G>T (p.Gly449Trp) | |
| 11 | g.68433644G>A | CA224250769 | LRP5 | c.3806G>A (p.Gly1269Glu) c.*2412G>A (n.*2412G>A) c.2063G>A (p.Gly688Glu) c.3833G>A (p.Gly1278Glu) n.3848G>A c.1346G>A (p.Gly449Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68433644G>C | CA381613657 | LRP5 | c.3806G>C (p.Gly1269Ala) c.*2412G>C (n.*2412G>C) c.2063G>C (p.Gly688Ala) c.3833G>C (p.Gly1278Ala) n.3848G>C c.1346G>C (p.Gly449Ala) | |
| 11 | g.68433644G= | CA1980622022 | LRP5 | c.3806G= (p.Gly1269=) c.*2412G= (n.*2412G=) c.2063G= (p.Gly688=) c.3833G= (p.Gly1278=) n.3848G= c.1346G= (p.Gly449=) | |
| 11 | g.68433644G>T | CA381613658 | LRP5 | c.3806G>T (p.Gly1269Val) c.*2412G>T (n.*2412G>T) c.2063G>T (p.Gly688Val) c.3833G>T (p.Gly1278Val) n.3848G>T c.1346G>T (p.Gly449Val) | |
| 11 | g.68433645G>A | CA475460745 | LRP5 | c.3807G>A (p.Gly1269=) c.*2413G>A (n.*2413G>A) c.2064G>A (p.Gly688=) c.3834G>A (p.Gly1278=) n.3849G>A c.1347G>A (p.Gly449=) | |
| 11 | g.68433645G>C | CA475460746 | LRP5 | c.3807G>C (p.Gly1269=) c.*2413G>C (n.*2413G>C) c.2064G>C (p.Gly688=) c.3834G>C (p.Gly1278=) n.3849G>C c.1347G>C (p.Gly449=) | |
| 11 | g.68433645G>T | CA475460747 | LRP5 | c.3807G>T (p.Gly1269=) c.*2413G>T (n.*2413G>T) c.2064G>T (p.Gly688=) c.3834G>T (p.Gly1278=) n.3849G>T c.1347G>T (p.Gly449=) | |
| 11 | g.68433646G>A | CA381613659 | LRP5 | c.3808G>A (p.Glu1270Lys) c.*2414G>A (n.*2414G>A) c.2065G>A (p.Glu689Lys) c.3835G>A (p.Glu1279Lys) n.3850G>A c.1348G>A (p.Glu450Lys) | dbSNP |
| 11 | g.68433646G>C | CA381613661 | LRP5 | c.3808G>C (p.Glu1270Gln) c.*2414G>C (n.*2414G>C) c.2065G>C (p.Glu689Gln) c.3835G>C (p.Glu1279Gln) n.3850G>C c.1348G>C (p.Glu450Gln) | |
| 11 | g.68433646G= | CA1980622027 | LRP5 | c.3808G= (p.Glu1270=) c.*2414G= (n.*2414G=) c.2065G= (p.Glu689=) c.3835G= (p.Glu1279=) n.3850G= c.1348G= (p.Glu450=) | |
| 11 | g.68433646G>T | CA381613660 | LRP5 | c.3808G>T (p.Glu1270Ter) c.*2414G>T (n.*2414G>T) c.2065G>T (p.Glu689Ter) c.3835G>T (p.Glu1279Ter) n.3850G>T c.1348G>T (p.Glu450Ter) | |
| 11 | g.68433647A>C | CA381613662 | LRP5 | c.3809A>C (p.Glu1270Ala) c.*2415A>C (n.*2415A>C) c.2066A>C (p.Glu689Ala) c.3836A>C (p.Glu1279Ala) n.3851A>C c.1349A>C (p.Glu450Ala) | |
| 11 | g.68433647A>G | CA381613663 | LRP5 | c.3809A>G (p.Glu1270Gly) c.*2415A>G (n.*2415A>G) c.2066A>G (p.Glu689Gly) c.3836A>G (p.Glu1279Gly) n.3851A>G c.1349A>G (p.Glu450Gly) | |
| 11 | g.68433647A>T | CA381613664 | LRP5 | c.3809A>T (p.Glu1270Val) c.*2415A>T (n.*2415A>T) c.2066A>T (p.Glu689Val) c.3836A>T (p.Glu1279Val) n.3851A>T c.1349A>T (p.Glu450Val) | |
| 11 | g.68433648G>A | CA475460748 | LRP5 | c.3810G>A (p.Glu1270=) c.*2416G>A (n.*2416G>A) c.2067G>A (p.Glu689=) c.3837G>A (p.Glu1279=) n.3852G>A c.1350G>A (p.Glu450=) | |
| 11 | g.68433648G>C | CA381613665 | LRP5 | c.3810G>C (p.Glu1270Asp) c.*2416G>C (n.*2416G>C) c.2067G>C (p.Glu689Asp) c.3837G>C (p.Glu1279Asp) n.3852G>C c.1350G>C (p.Glu450Asp) | |
| 11 | g.68433648G>T | CA381613666 | LRP5 | c.3810G>T (p.Glu1270Asp) c.*2416G>T (n.*2416G>T) c.2067G>T (p.Glu689Asp) c.3837G>T (p.Glu1279Asp) n.3852G>T c.1350G>T (p.Glu450Asp) | gnomAD v4 |
| 11 | g.68433649A>C | CA381613667 | LRP5 | c.3811A>C (p.Ile1271Leu) c.*2417A>C (n.*2417A>C) c.2068A>C (p.Ile690Leu) c.3838A>C (p.Ile1280Leu) n.3853A>C c.1351A>C (p.Ile451Leu) | |
| 11 | g.68433649A>G | CA381613668 | LRP5 | c.3811A>G (p.Ile1271Val) c.*2417A>G (n.*2417A>G) c.2068A>G (p.Ile690Val) c.3838A>G (p.Ile1280Val) n.3853A>G c.1351A>G (p.Ile451Val) | |
| 11 | g.68433649A>T | CA381613669 | LRP5 | c.3811A>T (p.Ile1271Phe) c.*2417A>T (n.*2417A>T) c.2068A>T (p.Ile690Phe) c.3838A>T (p.Ile1280Phe) n.3853A>T c.1351A>T (p.Ile451Phe) | |
| 11 | g.68433650T>A | CA381613670 | LRP5 | c.3812T>A (p.Ile1271Asn) c.*2418T>A (n.*2418T>A) c.2069T>A (p.Ile690Asn) c.3839T>A (p.Ile1280Asn) n.3854T>A c.1352T>A (p.Ile451Asn) | |
| 11 | g.68433650T>C | CA381613671 | LRP5 | c.3812T>C (p.Ile1271Thr) c.*2418T>C (n.*2418T>C) c.2069T>C (p.Ile690Thr) c.3839T>C (p.Ile1280Thr) n.3854T>C c.1352T>C (p.Ile451Thr) | |
| 11 | g.68433650T>G | CA381613672 | LRP5 | c.3812T>G (p.Ile1271Ser) c.*2418T>G (n.*2418T>G) c.2069T>G (p.Ile690Ser) c.3839T>G (p.Ile1280Ser) n.3854T>G c.1352T>G (p.Ile451Ser) | |
| 11 | g.68433651C>A | CA475460749 | LRP5 | c.3813C>A (p.Ile1271=) c.*2419C>A (n.*2419C>A) c.2070C>A (p.Ile690=) c.3840C>A (p.Ile1280=) n.3855C>A c.1353C>A (p.Ile451=) | ClinVar gnomAD v4 |
| 11 | g.68433651C= | CA1980622032 | LRP5 | c.3813C= (p.Ile1271=) c.*2419C= (n.*2419C=) c.2070C= (p.Ile690=) c.3840C= (p.Ile1280=) n.3855C= c.1353C= (p.Ile451=) | |
| 11 | g.68433651C>G | CA381613673 | LRP5 | c.3813C>G (p.Ile1271Met) c.*2419C>G (n.*2419C>G) c.2070C>G (p.Ile690Met) c.3840C>G (p.Ile1280Met) n.3855C>G c.1353C>G (p.Ile451Met) | |
| 11 | g.68433651C>T | CA6150120 | LRP5 | c.3813C>T (p.Ile1271=) c.*2419C>T (n.*2419C>T) c.2070C>T (p.Ile690=) c.3840C>T (p.Ile1280=) n.3855C>T c.1353C>T (p.Ile451=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.68433652G>A | CA224250786 | LRP5 | c.3814G>A (p.Asp1272Asn) c.*2420G>A (n.*2420G>A) c.2071G>A (p.Asp691Asn) c.3841G>A (p.Asp1281Asn) n.3856G>A c.1354G>A (p.Asp452Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68433652G>C | CA381613675 | LRP5 | c.3814G>C (p.Asp1272His) c.*2420G>C (n.*2420G>C) c.2071G>C (p.Asp691His) c.3841G>C (p.Asp1281His) n.3856G>C c.1354G>C (p.Asp452His) | |
| 11 | g.68433652G= | CA1980622037 | LRP5 | c.3814G= (p.Asp1272=) c.*2420G= (n.*2420G=) c.2071G= (p.Asp691=) c.3841G= (p.Asp1281=) n.3856G= c.1354G= (p.Asp452=) | |
| 11 | g.68433652G>T | CA381613674 | LRP5 | c.3814G>T (p.Asp1272Tyr) c.*2420G>T (n.*2420G>T) c.2071G>T (p.Asp691Tyr) c.3841G>T (p.Asp1281Tyr) n.3856G>T c.1354G>T (p.Asp452Tyr) | dbSNP gnomAD v4 |
| 11 | g.68433653A>C | CA381613676 | LRP5 | c.3815A>C (p.Asp1272Ala) c.*2421A>C (n.*2421A>C) c.2072A>C (p.Asp691Ala) c.3842A>C (p.Asp1281Ala) n.3857A>C c.1355A>C (p.Asp452Ala) | |
| 11 | g.68433653A>G | CA381613678 | LRP5 | c.3815A>G (p.Asp1272Gly) c.*2421A>G (n.*2421A>G) c.2072A>G (p.Asp691Gly) c.3842A>G (p.Asp1281Gly) n.3857A>G c.1355A>G (p.Asp452Gly) | |
| 11 | g.68433653A>T | CA381613677 | LRP5 | c.3815A>T (p.Asp1272Val) c.*2421A>T (n.*2421A>T) c.2072A>T (p.Asp691Val) c.3842A>T (p.Asp1281Val) n.3857A>T c.1355A>T (p.Asp452Val) | |
| 11 | g.68433654C>A | CA381613679 | LRP5 | c.3816C>A (p.Asp1272Glu) c.*2422C>A (n.*2422C>A) c.2073C>A (p.Asp691Glu) c.3843C>A (p.Asp1281Glu) n.3858C>A c.1356C>A (p.Asp452Glu) | |
| 11 | g.68433654C>G | CA381613680 | LRP5 | c.3816C>G (p.Asp1272Glu) c.*2422C>G (n.*2422C>G) c.2073C>G (p.Asp691Glu) c.3843C>G (p.Asp1281Glu) n.3858C>G c.1356C>G (p.Asp452Glu) | |
| 11 | g.68433654C>T | CA475460750 | LRP5 | c.3816C>T (p.Asp1272=) c.*2422C>T (n.*2422C>T) c.2073C>T (p.Asp691=) c.3843C>T (p.Asp1281=) n.3858C>T c.1356C>T (p.Asp452=) | |
| 11 | g.68433655T>A | CA381613681 | LRP5 | c.3817T>A (p.Cys1273Ser) c.*2423T>A (n.*2423T>A) c.2074T>A (p.Cys692Ser) c.3844T>A (p.Cys1282Ser) n.3859T>A c.1357T>A (p.Cys453Ser) | |
| 11 | g.68433655T>C | CA6150121 | LRP5 | c.3817T>C (p.Cys1273Arg) c.*2423T>C (n.*2423T>C) c.2074T>C (p.Cys692Arg) c.3844T>C (p.Cys1282Arg) n.3859T>C c.1357T>C (p.Cys453Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68433655T>G | CA381613682 | LRP5 | c.3817T>G (p.Cys1273Gly) c.*2423T>G (n.*2423T>G) c.2074T>G (p.Cys692Gly) c.3844T>G (p.Cys1282Gly) n.3859T>G c.1357T>G (p.Cys453Gly) | |
| 11 | g.68433655T= | CA1980622041 | LRP5 | c.3817T= (p.Cys1273=) c.*2423T= (n.*2423T=) c.2074T= (p.Cys692=) c.3844T= (p.Cys1282=) n.3859T= c.1357T= (p.Cys453=) | |
| 11 | g.68433656G>A | CA381613683 | LRP5 | c.3818G>A (p.Cys1273Tyr) c.*2424G>A (n.*2424G>A) c.2075G>A (p.Cys692Tyr) c.3845G>A (p.Cys1282Tyr) n.3860G>A c.1358G>A (p.Cys453Tyr) | |
| 11 | g.68433656G>C | CA381613684 | LRP5 | c.3818G>C (p.Cys1273Ser) c.*2424G>C (n.*2424G>C) c.2075G>C (p.Cys692Ser) c.3845G>C (p.Cys1282Ser) n.3860G>C c.1358G>C (p.Cys453Ser) | |
| 11 | g.68433656G>T | CA381613685 | LRP5 | c.3818G>T (p.Cys1273Phe) c.*2424G>T (n.*2424G>T) c.2075G>T (p.Cys692Phe) c.3845G>T (p.Cys1282Phe) n.3860G>T c.1358G>T (p.Cys453Phe) | |
| 11 | g.68433657T>A | CA381613686 | LRP5 | c.3819T>A (p.Cys1273Ter) c.*2425T>A (n.*2425T>A) c.2076T>A (p.Cys692Ter) c.3846T>A (p.Cys1282Ter) n.3861T>A c.1359T>A (p.Cys453Ter) | |
| 11 | g.68433657T>C | CA475460751 | LRP5 | c.3819T>C (p.Cys1273=) c.*2425T>C (n.*2425T>C) c.2076T>C (p.Cys692=) c.3846T>C (p.Cys1282=) n.3861T>C c.1359T>C (p.Cys453=) | gnomAD v4 |
| 11 | g.68433657T>G | CA381613687 | LRP5 | c.3819T>G (p.Cys1273Trp) c.*2425T>G (n.*2425T>G) c.2076T>G (p.Cys692Trp) c.3846T>G (p.Cys1282Trp) n.3861T>G c.1359T>G (p.Cys453Trp) | |
| 11 | g.68433658A= | CA1980622044 | LRP5 | c.3820A= (p.Ile1274=) c.*2426A= (n.*2426A=) c.2077A= (p.Ile693=) c.3847A= (p.Ile1283=) n.3862A= c.1360A= (p.Ile454=) | |
| 11 | g.68433658A>C | CA381613688 | LRP5 | c.3820A>C (p.Ile1274Leu) c.*2426A>C (n.*2426A>C) c.2077A>C (p.Ile693Leu) c.3847A>C (p.Ile1283Leu) n.3862A>C c.1360A>C (p.Ile454Leu) | |
| 11 | g.68433658A>G | CA381613689 | LRP5 | c.3820A>G (p.Ile1274Val) c.*2426A>G (n.*2426A>G) c.2077A>G (p.Ile693Val) c.3847A>G (p.Ile1283Val) n.3862A>G c.1360A>G (p.Ile454Val) | gnomAD v4 |
| 11 | g.68433658A>T | CA381613690 | LRP5 | c.3820A>T (p.Ile1274Phe) c.*2426A>T (n.*2426A>T) c.2077A>T (p.Ile693Phe) c.3847A>T (p.Ile1283Phe) n.3862A>T c.1360A>T (p.Ile454Phe) | dbSNP gnomAD v4 |
| 11 | g.68433659T>A | CA381613693 | LRP5 | c.3821T>A (p.Ile1274Asn) c.*2427T>A (n.*2427T>A) c.2078T>A (p.Ile693Asn) c.3848T>A (p.Ile1283Asn) n.3863T>A c.1361T>A (p.Ile454Asn) | |
| 11 | g.68433659T>C | CA381613691 | LRP5 | c.3821T>C (p.Ile1274Thr) c.*2427T>C (n.*2427T>C) c.2078T>C (p.Ile693Thr) c.3848T>C (p.Ile1283Thr) n.3863T>C c.1361T>C (p.Ile454Thr) | |
| 11 | g.68433659T>G | CA381613692 | LRP5 | c.3821T>G (p.Ile1274Ser) c.*2427T>G (n.*2427T>G) c.2078T>G (p.Ile693Ser) c.3848T>G (p.Ile1283Ser) n.3863T>G c.1361T>G (p.Ile454Ser) | |
| 11 | g.68433660C>A | CA475460753 | LRP5 | c.3822C>A (p.Ile1274=) c.*2428C>A (n.*2428C>A) c.2079C>A (p.Ile693=) c.3849C>A (p.Ile1283=) n.3864C>A c.1362C>A (p.Ile454=) | |
| 11 | g.68433660C= | CA1980622049 | LRP5 | c.3822C= (p.Ile1274=) c.*2428C= (n.*2428C=) c.2079C= (p.Ile693=) c.3849C= (p.Ile1283=) n.3864C= c.1362C= (p.Ile454=) | |
| 11 | g.68433660C>G | CA381613694 | LRP5 | c.3822C>G (p.Ile1274Met) c.*2428C>G (n.*2428C>G) c.2079C>G (p.Ile693Met) c.3849C>G (p.Ile1283Met) n.3864C>G c.1362C>G (p.Ile454Met) | |
| 11 | g.68433660C>T | CA475460752 | LRP5 | c.3822C>T (p.Ile1274=) c.*2428C>T (n.*2428C>T) c.2079C>T (p.Ile693=) c.3849C>T (p.Ile1283=) n.3864C>T c.1362C>T (p.Ile454=) | dbSNP gnomAD v4 |
| 11 | g.68433661C>A | CA381613695 | LRP5 | c.3823C>A (p.Pro1275Thr) c.*2429C>A (n.*2429C>A) c.2080C>A (p.Pro694Thr) c.3850C>A (p.Pro1284Thr) n.3865C>A c.1363C>A (p.Pro455Thr) | |
| 11 | g.68433661C>G | CA381613696 | LRP5 | c.3823C>G (p.Pro1275Ala) c.*2429C>G (n.*2429C>G) c.2080C>G (p.Pro694Ala) c.3850C>G (p.Pro1284Ala) n.3865C>G c.1363C>G (p.Pro455Ala) | |
| 11 | g.68433661C>T | CA381613697 | LRP5 | c.3823C>T (p.Pro1275Ser) c.*2429C>T (n.*2429C>T) c.2080C>T (p.Pro694Ser) c.3850C>T (p.Pro1284Ser) n.3865C>T c.1363C>T (p.Pro455Ser) | |
| 11 | g.68433662C>A | CA381613698 | LRP5 | c.3824C>A (p.Pro1275His) c.*2430C>A (n.*2430C>A) c.2081C>A (p.Pro694His) c.3851C>A (p.Pro1284His) n.3866C>A c.1364C>A (p.Pro455His) | |
| 11 | g.68433662C>G | CA381613699 | LRP5 | c.3824C>G (p.Pro1275Arg) c.*2430C>G (n.*2430C>G) c.2081C>G (p.Pro694Arg) c.3851C>G (p.Pro1284Arg) n.3866C>G c.1364C>G (p.Pro455Arg) | gnomAD v4 |
| 11 | g.68433662C>T | CA381613700 | LRP5 | c.3824C>T (p.Pro1275Leu) c.*2430C>T (n.*2430C>T) c.2081C>T (p.Pro694Leu) c.3851C>T (p.Pro1284Leu) n.3866C>T c.1364C>T (p.Pro455Leu) | |
| 11 | g.68433663C>A | CA475460754 | LRP5 | c.3825C>A (p.Pro1275=) c.*2431C>A (n.*2431C>A) c.2082C>A (p.Pro694=) c.3852C>A (p.Pro1284=) n.3867C>A c.1365C>A (p.Pro455=) | |
| 11 | g.68433663C= | CA1980622052 | LRP5 | c.3825C= (p.Pro1275=) c.*2431C= (n.*2431C=) c.2082C= (p.Pro694=) c.3852C= (p.Pro1284=) n.3867C= c.1365C= (p.Pro455=) | |
| 11 | g.68433663C>G | CA475460755 | LRP5 | c.3825C>G (p.Pro1275=) c.*2431C>G (n.*2431C>G) c.2082C>G (p.Pro694=) c.3852C>G (p.Pro1284=) n.3867C>G c.1365C>G (p.Pro455=) | dbSNP gnomAD v4 |
| 11 | g.68433663C>T | CA6150122 | LRP5 | c.3825C>T (p.Pro1275=) c.*2431C>T (n.*2431C>T) c.2082C>T (p.Pro694=) c.3852C>T (p.Pro1284=) n.3867C>T c.1365C>T (p.Pro455=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433664G>A | CA6150123 | LRP5 | c.3826G>A (p.Gly1276Arg) c.*2432G>A (n.*2432G>A) c.2083G>A (p.Gly695Arg) c.3853G>A (p.Gly1285Arg) n.3868G>A c.1366G>A (p.Gly456Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68433664G>C | CA381613701 | LRP5 | c.3826G>C (p.Gly1276Arg) c.*2432G>C (n.*2432G>C) c.2083G>C (p.Gly695Arg) c.3853G>C (p.Gly1285Arg) n.3868G>C c.1366G>C (p.Gly456Arg) | |
| 11 | g.68433664G= | CA1980622060 | LRP5 | c.3826G= (p.Gly1276=) c.*2432G= (n.*2432G=) c.2083G= (p.Gly695=) c.3853G= (p.Gly1285=) n.3868G= c.1366G= (p.Gly456=) | |
| 11 | g.68433664G>T | CA381613702 | LRP5 | c.3826G>T (p.Gly1276Trp) c.*2432G>T (n.*2432G>T) c.2083G>T (p.Gly695Trp) c.3853G>T (p.Gly1285Trp) n.3868G>T c.1366G>T (p.Gly456Trp) | gnomAD v4 |
| 11 | g.68433665G>A | CA381613704 | LRP5 | c.3827G>A (p.Gly1276Glu) c.*2433G>A (n.*2433G>A) c.2084G>A (p.Gly695Glu) c.3854G>A (p.Gly1285Glu) n.3869G>A c.1367G>A (p.Gly456Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68433665G>C | CA381613705 | LRP5 | c.3827G>C (p.Gly1276Ala) c.*2433G>C (n.*2433G>C) c.2084G>C (p.Gly695Ala) c.3854G>C (p.Gly1285Ala) n.3869G>C c.1367G>C (p.Gly456Ala) | |
| 11 | g.68433665G= | CA1980622068 | LRP5 | c.3827G= (p.Gly1276=) c.*2433G= (n.*2433G=) c.2084G= (p.Gly695=) c.3854G= (p.Gly1285=) n.3869G= c.1367G= (p.Gly456=) | |
| 11 | g.68433665G>T | CA381613703 | LRP5 | c.3827G>T (p.Gly1276Val) c.*2433G>T (n.*2433G>T) c.2084G>T (p.Gly695Val) c.3854G>T (p.Gly1285Val) n.3869G>T c.1367G>T (p.Gly456Val) | |
| 11 | g.68433666G>A | CA475460756 | LRP5 | c.3828G>A (p.Gly1276=) c.*2434G>A (n.*2434G>A) c.2085G>A (p.Gly695=) c.3855G>A (p.Gly1285=) n.3870G>A c.1368G>A (p.Gly456=) | gnomAD v4 COSMIC |
| 11 | g.68433666G>C | CA475460757 | LRP5 | c.3828G>C (p.Gly1276=) c.*2434G>C (n.*2434G>C) c.2085G>C (p.Gly695=) c.3855G>C (p.Gly1285=) n.3870G>C c.1368G>C (p.Gly456=) | |
| 11 | g.68433666G>T | CA475460758 | LRP5 | c.3828G>T (p.Gly1276=) c.*2434G>T (n.*2434G>T) c.2085G>T (p.Gly695=) c.3855G>T (p.Gly1285=) n.3870G>T c.1368G>T (p.Gly456=) | gnomAD v4 |
| 11 | g.68433667G>A | CA381613706 | LRP5 | c.3829G>A (p.Ala1277Thr) c.*2435G>A (n.*2435G>A) c.2086G>A (p.Ala696Thr) c.3856G>A (p.Ala1286Thr) n.3871G>A c.1369G>A (p.Ala457Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68433667G>C | CA381613707 | LRP5 | c.3829G>C (p.Ala1277Pro) c.*2435G>C (n.*2435G>C) c.2086G>C (p.Ala696Pro) c.3856G>C (p.Ala1286Pro) n.3871G>C c.1369G>C (p.Ala457Pro) | |
| 11 | g.68433667G= | CA1980622072 | LRP5 | c.3829G= (p.Ala1277=) c.*2435G= (n.*2435G=) c.2086G= (p.Ala696=) c.3856G= (p.Ala1286=) n.3871G= c.1369G= (p.Ala457=) | |
| 11 | g.68433667G>T | CA6150124 | LRP5 | c.3829G>T (p.Ala1277Ser) c.*2435G>T (n.*2435G>T) c.2086G>T (p.Ala696Ser) c.3856G>T (p.Ala1286Ser) n.3871G>T c.1369G>T (p.Ala457Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433668C>A | CA381613708 | LRP5 | c.3830C>A (p.Ala1277Asp) c.*2436C>A (n.*2436C>A) c.2087C>A (p.Ala696Asp) c.3857C>A (p.Ala1286Asp) n.3872C>A c.1370C>A (p.Ala457Asp) | |
| 11 | g.68433668C>G | CA381613709 | LRP5 | c.3830C>G (p.Ala1277Gly) c.*2436C>G (n.*2436C>G) c.2087C>G (p.Ala696Gly) c.3857C>G (p.Ala1286Gly) n.3872C>G c.1370C>G (p.Ala457Gly) | |
| 11 | g.68433668C>T | CA381613710 | LRP5 | c.3830C>T (p.Ala1277Val) c.*2436C>T (n.*2436C>T) c.2087C>T (p.Ala696Val) c.3857C>T (p.Ala1286Val) n.3872C>T c.1370C>T (p.Ala457Val) | |
| 11 | g.68433669C>A | CA475460759 | LRP5 | c.3831C>A (p.Ala1277=) c.*2437C>A (n.*2437C>A) c.2088C>A (p.Ala696=) c.3858C>A (p.Ala1286=) n.3873C>A c.1371C>A (p.Ala457=) | |
| 11 | g.68433669C= | CA1980622075 | LRP5 | c.3831C= (p.Ala1277=) c.*2437C= (n.*2437C=) c.2088C= (p.Ala696=) c.3858C= (p.Ala1286=) n.3873C= c.1371C= (p.Ala457=) | |
| 11 | g.68433669C>G | CA475460760 | LRP5 | c.3831C>G (p.Ala1277=) c.*2437C>G (n.*2437C>G) c.2088C>G (p.Ala696=) c.3858C>G (p.Ala1286=) n.3873C>G c.1371C>G (p.Ala457=) | |
| 11 | g.68433669C>T | CA475460761 | LRP5 | c.3831C>T (p.Ala1277=) c.*2437C>T (n.*2437C>T) c.2088C>T (p.Ala696=) c.3858C>T (p.Ala1286=) n.3873C>T c.1371C>T (p.Ala457=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68433670T>A | CA381613711 | LRP5 | c.3832T>A (p.Trp1278Arg) c.*2438T>A (n.*2438T>A) c.2089T>A (p.Trp697Arg) c.3859T>A (p.Trp1287Arg) n.3874T>A c.1372T>A (p.Trp458Arg) | |
| 11 | g.68433670T>C | CA381613712 | LRP5 | c.3832T>C (p.Trp1278Arg) c.*2438T>C (n.*2438T>C) c.2089T>C (p.Trp697Arg) c.3859T>C (p.Trp1287Arg) n.3874T>C c.1372T>C (p.Trp458Arg) | |
| 11 | g.68433670T>G | CA381613713 | LRP5 | c.3832T>G (p.Trp1278Gly) c.*2438T>G (n.*2438T>G) c.2089T>G (p.Trp697Gly) c.3859T>G (p.Trp1287Gly) n.3874T>G c.1372T>G (p.Trp458Gly) | |
| 11 | g.68433670_68433672delinsTGG | CA1980622078 | LRP5 | c.3832_3834delinsTGG (p.Trp1278=) c.*2438_*2440delinsTGG (n.*2438_*2440delinsTGG) c.2089_2091delinsTGG (p.Trp697=) c.3859_3861delinsTGG (p.Trp1287=) n.3874_3876delinsTGG c.1372_1374delinsTGG (p.Trp458=) | |
| 11 | g.68433671G>A | CA381613714 | LRP5 | c.3833G>A (p.Trp1278Ter) c.*2439G>A (n.*2439G>A) c.2090G>A (p.Trp697Ter) c.3860G>A (p.Trp1287Ter) n.3875G>A c.1373G>A (p.Trp458Ter) | |
| 11 | g.68433671G>C | CA381613715 | LRP5 | c.3833G>C (p.Trp1278Ser) c.*2439G>C (n.*2439G>C) c.2090G>C (p.Trp697Ser) c.3860G>C (p.Trp1287Ser) n.3875G>C c.1373G>C (p.Trp458Ser) | |
| 11 | g.68433671G>T | CA381613716 | LRP5 | c.3833G>T (p.Trp1278Leu) c.*2439G>T (n.*2439G>T) c.2090G>T (p.Trp697Leu) c.3860G>T (p.Trp1287Leu) n.3875G>T c.1373G>T (p.Trp458Leu) | gnomAD v4 |
| 11 | g.68433671_68433672del | CA679586851 | LRP5 | c.3833_3834del (p.Trp1278SerfsTer3) c.*2439_*2440del (n.*2439_*2440del) c.2090_2091del (p.Trp697SerfsTer3) c.3860_3861del (p.Trp1287SerfsTer3) n.3875_3876del c.1373_1374del (p.Trp458SerfsTer3) | dbSNP |
| 11 | g.68433672G>A | CA381613719 | LRP5 | c.3834G>A (p.Trp1278Ter) c.*2440G>A (n.*2440G>A) c.2091G>A (p.Trp697Ter) c.3861G>A (p.Trp1287Ter) n.3876G>A c.1374G>A (p.Trp458Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68433672G>C | CA381613717 | LRP5 | c.3834G>C (p.Trp1278Cys) c.*2440G>C (n.*2440G>C) c.2091G>C (p.Trp697Cys) c.3861G>C (p.Trp1287Cys) n.3876G>C c.1374G>C (p.Trp458Cys) | |
| 11 | g.68433672G= | CA1980622084 | LRP5 | c.3834G= (p.Trp1278=) c.*2440G= (n.*2440G=) c.2091G= (p.Trp697=) c.3861G= (p.Trp1287=) n.3876G= c.1374G= (p.Trp458=) | |
| 11 | g.68433672G>T | CA381613718 | LRP5 | c.3834G>T (p.Trp1278Cys) c.*2440G>T (n.*2440G>T) c.2091G>T (p.Trp697Cys) c.3861G>T (p.Trp1287Cys) n.3876G>T c.1374G>T (p.Trp458Cys) | |
| 11 | g.68433673C>A | CA381613720 | LRP5 | c.3835C>A (p.Arg1279Ser) c.*2441C>A (n.*2441C>A) c.2092C>A (p.Arg698Ser) c.3862C>A (p.Arg1288Ser) n.3877C>A c.1375C>A (p.Arg459Ser) | dbSNP |
| 11 | g.68433673C= | CA1980622088 | LRP5 | c.3835C= (p.Arg1279=) c.*2441C= (n.*2441C=) c.2092C= (p.Arg698=) c.3862C= (p.Arg1288=) n.3877C= c.1375C= (p.Arg459=) | |
| 11 | g.68433673C>G | CA381613721 | LRP5 | c.3835C>G (p.Arg1279Gly) c.*2441C>G (n.*2441C>G) c.2092C>G (p.Arg698Gly) c.3862C>G (p.Arg1288Gly) n.3877C>G c.1375C>G (p.Arg459Gly) | |
| 11 | g.68433673C>T | CA381613722 | LRP5 | c.3835C>T (p.Arg1279Cys) c.*2441C>T (n.*2441C>T) c.2092C>T (p.Arg698Cys) c.3862C>T (p.Arg1288Cys) n.3877C>T c.1375C>T (p.Arg459Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.68433674G>A | CA6150125 | LRP5 | c.3836G>A (p.Arg1279His) c.*2442G>A (n.*2442G>A) c.2093G>A (p.Arg698His) c.3863G>A (p.Arg1288His) n.3878G>A c.1376G>A (p.Arg459His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433674G>C | CA381613723 | LRP5 | c.3836G>C (p.Arg1279Pro) c.*2442G>C (n.*2442G>C) c.2093G>C (p.Arg698Pro) c.3863G>C (p.Arg1288Pro) n.3878G>C c.1376G>C (p.Arg459Pro) | |
| 11 | g.68433674G= | CA1980622090 | LRP5 | c.3836G= (p.Arg1279=) c.*2442G= (n.*2442G=) c.2093G= (p.Arg698=) c.3863G= (p.Arg1288=) n.3878G= c.1376G= (p.Arg459=) | |
| 11 | g.68433674G>T | CA224250811 | LRP5 | c.3836G>T (p.Arg1279Leu) c.*2442G>T (n.*2442G>T) c.2093G>T (p.Arg698Leu) c.3863G>T (p.Arg1288Leu) n.3878G>T c.1376G>T (p.Arg459Leu) | dbSNP |
| 11 | g.68433675C>A | CA475460762 | LRP5 | c.3837C>A (p.Arg1279=) c.*2443C>A (n.*2443C>A) c.2094C>A (p.Arg698=) c.3864C>A (p.Arg1288=) n.3879C>A c.1377C>A (p.Arg459=) | |
| 11 | g.68433675C= | CA1980622101 | LRP5 | c.3837C= (p.Arg1279=) c.*2443C= (n.*2443C=) c.2094C= (p.Arg698=) c.3864C= (p.Arg1288=) n.3879C= c.1377C= (p.Arg459=) | |
| 11 | g.68433675C>G | CA475460763 | LRP5 | c.3837C>G (p.Arg1279=) c.*2443C>G (n.*2443C>G) c.2094C>G (p.Arg698=) c.3864C>G (p.Arg1288=) n.3879C>G c.1377C>G (p.Arg459=) | |
| 11 | g.68433675C>T | CA6150126 | LRP5 | c.3837C>T (p.Arg1279=) c.*2443C>T (n.*2443C>T) c.2094C>T (p.Arg698=) c.3864C>T (p.Arg1288=) n.3879C>T c.1377C>T (p.Arg459=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433676T>A | CA381613724 | LRP5 | c.3838T>A (p.Cys1280Ser) c.*2444T>A (n.*2444T>A) c.2095T>A (p.Cys699Ser) c.3865T>A (p.Cys1289Ser) n.3880T>A c.1378T>A (p.Cys460Ser) | |
| 11 | g.68433676T>C | CA6150127 | LRP5 | c.3838T>C (p.Cys1280Arg) c.*2444T>C (n.*2444T>C) c.2095T>C (p.Cys699Arg) c.3865T>C (p.Cys1289Arg) n.3880T>C c.1378T>C (p.Cys460Arg) | dbSNP ExAC |
| 11 | g.68433676T>G | CA381613725 | LRP5 | c.3838T>G (p.Cys1280Gly) c.*2444T>G (n.*2444T>G) c.2095T>G (p.Cys699Gly) c.3865T>G (p.Cys1289Gly) n.3880T>G c.1378T>G (p.Cys460Gly) | |
| 11 | g.68433676T= | CA1980622106 | LRP5 | c.3838T= (p.Cys1280=) c.*2444T= (n.*2444T=) c.2095T= (p.Cys699=) c.3865T= (p.Cys1289=) n.3880T= c.1378T= (p.Cys460=) | |
| 11 | g.68433677G>A | CA381613726 | LRP5 | c.3839G>A (p.Cys1280Tyr) c.*2445G>A (n.*2445G>A) c.2096G>A (p.Cys699Tyr) c.3866G>A (p.Cys1289Tyr) n.3881G>A c.1379G>A (p.Cys460Tyr) | gnomAD v4 |
| 11 | g.68433677G>C | CA381613727 | LRP5 | c.3839G>C (p.Cys1280Ser) c.*2445G>C (n.*2445G>C) c.2096G>C (p.Cys699Ser) c.3866G>C (p.Cys1289Ser) n.3881G>C c.1379G>C (p.Cys460Ser) | |
| 11 | g.68433677G>T | CA381613728 | LRP5 | c.3839G>T (p.Cys1280Phe) c.*2445G>T (n.*2445G>T) c.2096G>T (p.Cys699Phe) c.3866G>T (p.Cys1289Phe) n.3881G>T c.1379G>T (p.Cys460Phe) | |
| 11 | g.68433678T>A | CA381613729 | LRP5 | c.3840T>A (p.Cys1280Ter) c.*2446T>A (n.*2446T>A) c.2097T>A (p.Cys699Ter) c.3867T>A (p.Cys1289Ter) n.3882T>A c.1380T>A (p.Cys460Ter) | |
| 11 | g.68433678T>C | CA475460764 | LRP5 | c.3840T>C (p.Cys1280=) c.*2446T>C (n.*2446T>C) c.2097T>C (p.Cys699=) c.3867T>C (p.Cys1289=) n.3882T>C c.1380T>C (p.Cys460=) | |
| 11 | g.68433678T>G | CA381613730 | LRP5 | c.3840T>G (p.Cys1280Trp) c.*2446T>G (n.*2446T>G) c.2097T>G (p.Cys699Trp) c.3867T>G (p.Cys1289Trp) n.3882T>G c.1380T>G (p.Cys460Trp) | |
| 11 | g.68433679G>A | CA381613731 | LRP5 | c.3841G>A (p.Asp1281Asn) c.*2447G>A (n.*2447G>A) c.2098G>A (p.Asp700Asn) c.3868G>A (p.Asp1290Asn) n.3883G>A c.1381G>A (p.Asp461Asn) | |
| 11 | g.68433679G>C | CA381613732 | LRP5 | c.3841G>C (p.Asp1281His) c.*2447G>C (n.*2447G>C) c.2098G>C (p.Asp700His) c.3868G>C (p.Asp1290His) n.3883G>C c.1381G>C (p.Asp461His) | |
| 11 | g.68433679G>T | CA381613733 | LRP5 | c.3841G>T (p.Asp1281Tyr) c.*2447G>T (n.*2447G>T) c.2098G>T (p.Asp700Tyr) c.3868G>T (p.Asp1290Tyr) n.3883G>T c.1381G>T (p.Asp461Tyr) | |
| 11 | g.68433680A>C | CA381613734 | LRP5 | c.3842A>C (p.Asp1281Ala) c.*2448A>C (n.*2448A>C) c.2099A>C (p.Asp700Ala) c.3869A>C (p.Asp1290Ala) n.3884A>C c.1382A>C (p.Asp461Ala) | |
| 11 | g.68433680A>G | CA381613735 | LRP5 | c.3842A>G (p.Asp1281Gly) c.*2448A>G (n.*2448A>G) c.2099A>G (p.Asp700Gly) c.3869A>G (p.Asp1290Gly) n.3884A>G c.1382A>G (p.Asp461Gly) | |
| 11 | g.68433680A>T | CA381613736 | LRP5 | c.3842A>T (p.Asp1281Val) c.*2448A>T (n.*2448A>T) c.2099A>T (p.Asp700Val) c.3869A>T (p.Asp1290Val) n.3884A>T c.1382A>T (p.Asp461Val) | |
| 11 | g.68433681C>A | CA381613738 | LRP5 | c.3843C>A (p.Asp1281Glu) c.*2449C>A (n.*2449C>A) c.2100C>A (p.Asp700Glu) c.3870C>A (p.Asp1290Glu) n.3885C>A c.1383C>A (p.Asp461Glu) | gnomAD v4 |
| 11 | g.68433681C= | CA1980622109 | LRP5 | c.3843C= (p.Asp1281=) c.*2449C= (n.*2449C=) c.2100C= (p.Asp700=) c.3870C= (p.Asp1290=) n.3885C= c.1383C= (p.Asp461=) | |
| 11 | g.68433681C>G | CA381613737 | LRP5 | c.3843C>G (p.Asp1281Glu) c.*2449C>G (n.*2449C>G) c.2100C>G (p.Asp700Glu) c.3870C>G (p.Asp1290Glu) n.3885C>G c.1383C>G (p.Asp461Glu) | |
| 11 | g.68433681C>T | CA6150128 | LRP5 | c.3843C>T (p.Asp1281=) c.*2449C>T (n.*2449C>T) c.2100C>T (p.Asp700=) c.3870C>T (p.Asp1290=) n.3885C>T c.1383C>T (p.Asp461=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433682G>A | CA6150129 | LRP5 | c.3844G>A (p.Gly1282Ser) c.*2450G>A (n.*2450G>A) c.2101G>A (p.Gly701Ser) c.3871G>A (p.Gly1291Ser) n.3886G>A c.1384G>A (p.Gly462Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68433682G>C | CA381613739 | LRP5 | c.3844G>C (p.Gly1282Arg) c.*2450G>C (n.*2450G>C) c.2101G>C (p.Gly701Arg) c.3871G>C (p.Gly1291Arg) n.3886G>C c.1384G>C (p.Gly462Arg) | |
| 11 | g.68433682G= | CA1980622118 | LRP5 | c.3844G= (p.Gly1282=) c.*2450G= (n.*2450G=) c.2101G= (p.Gly701=) c.3871G= (p.Gly1291=) n.3886G= c.1384G= (p.Gly462=) | |
| 11 | g.68433682G>T | CA381613740 | LRP5 | c.3844G>T (p.Gly1282Cys) c.*2450G>T (n.*2450G>T) c.2101G>T (p.Gly701Cys) c.3871G>T (p.Gly1291Cys) n.3886G>T c.1384G>T (p.Gly462Cys) | |
| 11 | g.68433683G>A | CA381613741 | LRP5 | c.3845G>A (p.Gly1282Asp) c.*2451G>A (n.*2451G>A) c.2102G>A (p.Gly701Asp) c.3872G>A (p.Gly1291Asp) n.3887G>A c.1385G>A (p.Gly462Asp) | gnomAD v4 |
| 11 | g.68433683G>C | CA381613742 | LRP5 | c.3845G>C (p.Gly1282Ala) c.*2451G>C (n.*2451G>C) c.2102G>C (p.Gly701Ala) c.3872G>C (p.Gly1291Ala) n.3887G>C c.1385G>C (p.Gly462Ala) | |
| 11 | g.68433683G>T | CA381613743 | LRP5 | c.3845G>T (p.Gly1282Val) c.*2451G>T (n.*2451G>T) c.2102G>T (p.Gly701Val) c.3872G>T (p.Gly1291Val) n.3887G>T c.1385G>T (p.Gly462Val) | |
| 11 | g.68433684C>A | CA475460765 | LRP5 | c.3846C>A (p.Gly1282=) c.*2452C>A (n.*2452C>A) c.2103C>A (p.Gly701=) c.3873C>A (p.Gly1291=) n.3888C>A c.1386C>A (p.Gly462=) | |
| 11 | g.68433684C>G | CA475460766 | LRP5 | c.3846C>G (p.Gly1282=) c.*2452C>G (n.*2452C>G) c.2103C>G (p.Gly701=) c.3873C>G (p.Gly1291=) n.3888C>G c.1386C>G (p.Gly462=) | |
| 11 | g.68433684C>T | CA475460767 | LRP5 | c.3846C>T (p.Gly1282=) c.*2452C>T (n.*2452C>T) c.2103C>T (p.Gly701=) c.3873C>T (p.Gly1291=) n.3888C>T c.1386C>T (p.Gly462=) | |
| 11 | g.68433685T>A | CA381613744 | LRP5 | c.3847T>A (p.Phe1283Ile) c.*2453T>A (n.*2453T>A) c.2104T>A (p.Phe702Ile) c.3874T>A (p.Phe1292Ile) n.3889T>A c.1387T>A (p.Phe463Ile) | |
| 11 | g.68433685T>C | CA6150130 | LRP5 | c.3847T>C (p.Phe1283Leu) c.*2453T>C (n.*2453T>C) c.2104T>C (p.Phe702Leu) c.3874T>C (p.Phe1292Leu) n.3889T>C c.1387T>C (p.Phe463Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68433685T>G | CA381613745 | LRP5 | c.3847T>G (p.Phe1283Val) c.*2453T>G (n.*2453T>G) c.2104T>G (p.Phe702Val) c.3874T>G (p.Phe1292Val) n.3889T>G c.1387T>G (p.Phe463Val) | |
| 11 | g.68433685T= | CA1980622126 | LRP5 | c.3847T= (p.Phe1283=) c.*2453T= (n.*2453T=) c.2104T= (p.Phe702=) c.3874T= (p.Phe1292=) n.3889T= c.1387T= (p.Phe463=) | |
| 11 | g.68433686T>A | CA381613746 | LRP5 | c.3848T>A (p.Phe1283Tyr) c.*2454T>A (n.*2454T>A) c.2105T>A (p.Phe702Tyr) c.3875T>A (p.Phe1292Tyr) n.3890T>A c.1388T>A (p.Phe463Tyr) | |
| 11 | g.68433686T>C | CA381613747 | LRP5 | c.3848T>C (p.Phe1283Ser) c.*2454T>C (n.*2454T>C) c.2105T>C (p.Phe702Ser) c.3875T>C (p.Phe1292Ser) n.3890T>C c.1388T>C (p.Phe463Ser) | |
| 11 | g.68433686T>G | CA381613748 | LRP5 | c.3848T>G (p.Phe1283Cys) c.*2454T>G (n.*2454T>G) c.2105T>G (p.Phe702Cys) c.3875T>G (p.Phe1292Cys) n.3890T>G c.1388T>G (p.Phe463Cys) | |
| 11 | g.68433687T>A | CA381613749 | LRP5 | c.3849T>A (p.Phe1283Leu) c.*2455T>A (n.*2455T>A) c.2106T>A (p.Phe702Leu) c.3876T>A (p.Phe1292Leu) n.3891T>A c.1389T>A (p.Phe463Leu) | |
| 11 | g.68433687T>C | CA475460768 | LRP5 | c.3849T>C (p.Phe1283=) c.*2455T>C (n.*2455T>C) c.2106T>C (p.Phe702=) c.3876T>C (p.Phe1292=) n.3891T>C c.1389T>C (p.Phe463=) | |
| 11 | g.68433687T>G | CA381613750 | LRP5 | c.3849T>G (p.Phe1283Leu) c.*2455T>G (n.*2455T>G) c.2106T>G (p.Phe702Leu) c.3876T>G (p.Phe1292Leu) n.3891T>G c.1389T>G (p.Phe463Leu) | |
| 11 | g.68433688C>A | CA381613751 | LRP5 | c.3850C>A (p.Pro1284Thr) c.*2456C>A (n.*2456C>A) c.2107C>A (p.Pro703Thr) c.3877C>A (p.Pro1293Thr) n.3892C>A c.1390C>A (p.Pro464Thr) | |
| 11 | g.68433688C= | CA1980622130 | LRP5 | c.3850C= (p.Pro1284=) c.*2456C= (n.*2456C=) c.2107C= (p.Pro703=) c.3877C= (p.Pro1293=) n.3892C= c.1390C= (p.Pro464=) | |
| 11 | g.68433688C>G | CA381613752 | LRP5 | c.3850C>G (p.Pro1284Ala) c.*2456C>G (n.*2456C>G) c.2107C>G (p.Pro703Ala) c.3877C>G (p.Pro1293Ala) n.3892C>G c.1390C>G (p.Pro464Ala) | |
| 11 | g.68433688C>T | CA224250887 | LRP5 | c.3850C>T (p.Pro1284Ser) c.*2456C>T (n.*2456C>T) c.2107C>T (p.Pro703Ser) c.3877C>T (p.Pro1293Ser) n.3892C>T c.1390C>T (p.Pro464Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68433689C>A | CA381613753 | LRP5 | c.3851C>A (p.Pro1284His) c.*2457C>A (n.*2457C>A) c.2108C>A (p.Pro703His) c.3878C>A (p.Pro1293His) n.3893C>A c.1391C>A (p.Pro464His) | |
| 11 | g.68433689C>G | CA381613754 | LRP5 | c.3851C>G (p.Pro1284Arg) c.*2457C>G (n.*2457C>G) c.2108C>G (p.Pro703Arg) c.3878C>G (p.Pro1293Arg) n.3893C>G c.1391C>G (p.Pro464Arg) | |
| 11 | g.68433689C>T | CA381613755 | LRP5 | c.3851C>T (p.Pro1284Leu) c.*2457C>T (n.*2457C>T) c.2108C>T (p.Pro703Leu) c.3878C>T (p.Pro1293Leu) n.3893C>T c.1391C>T (p.Pro464Leu) | |
| 11 | g.68433690C>A | CA475460769 | LRP5 | c.3852C>A (p.Pro1284=) c.*2458C>A (n.*2458C>A) c.2109C>A (p.Pro703=) c.3879C>A (p.Pro1293=) n.3894C>A c.1392C>A (p.Pro464=) | |
| 11 | g.68433690C= | CA1980622134 | LRP5 | c.3852C= (p.Pro1284=) c.*2458C= (n.*2458C=) c.2109C= (p.Pro703=) c.3879C= (p.Pro1293=) n.3894C= c.1392C= (p.Pro464=) | |
| 11 | g.68433690C>G | CA475460770 | LRP5 | c.3852C>G (p.Pro1284=) c.*2458C>G (n.*2458C>G) c.2109C>G (p.Pro703=) c.3879C>G (p.Pro1293=) n.3894C>G c.1392C>G (p.Pro464=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68433690C>T | CA6150131 | LRP5 | c.3852C>T (p.Pro1284=) c.*2458C>T (n.*2458C>T) c.2109C>T (p.Pro703=) c.3879C>T (p.Pro1293=) n.3894C>T c.1392C>T (p.Pro464=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433691G>A | CA6150132 | LRP5 | c.3853G>A (p.Glu1285Lys) c.*2459G>A (n.*2459G>A) c.2110G>A (p.Glu704Lys) c.3880G>A (p.Glu1294Lys) n.3895G>A c.1393G>A (p.Glu465Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.68433691G>C | CA381613757 | LRP5 | c.3853G>C (p.Glu1285Gln) c.*2459G>C (n.*2459G>C) c.2110G>C (p.Glu704Gln) c.3880G>C (p.Glu1294Gln) n.3895G>C c.1393G>C (p.Glu465Gln) | |
| 11 | g.68433691G= | CA1980622136 | LRP5 | c.3853G= (p.Glu1285=) c.*2459G= (n.*2459G=) c.2110G= (p.Glu704=) c.3880G= (p.Glu1294=) n.3895G= c.1393G= (p.Glu465=) | |
| 11 | g.68433691G>T | CA381613756 | LRP5 | c.3853G>T (p.Glu1285Ter) c.*2459G>T (n.*2459G>T) c.2110G>T (p.Glu704Ter) c.3880G>T (p.Glu1294Ter) n.3895G>T c.1393G>T (p.Glu465Ter) | gnomAD v4 |
| 11 | g.68433692A>C | CA381613758 | LRP5 | c.3854A>C (p.Glu1285Ala) c.*2460A>C (n.*2460A>C) c.2111A>C (p.Glu704Ala) c.3881A>C (p.Glu1294Ala) n.3896A>C c.1394A>C (p.Glu465Ala) | |
| 11 | g.68433692A>G | CA381613759 | LRP5 | c.3854A>G (p.Glu1285Gly) c.*2460A>G (n.*2460A>G) c.2111A>G (p.Glu704Gly) c.3881A>G (p.Glu1294Gly) n.3896A>G c.1394A>G (p.Glu465Gly) | ClinVar |
| 11 | g.68433692A>T | CA381613760 | LRP5 | c.3854A>T (p.Glu1285Val) c.*2460A>T (n.*2460A>T) c.2111A>T (p.Glu704Val) c.3881A>T (p.Glu1294Val) n.3896A>T c.1394A>T (p.Glu465Val) | |
| 11 | g.68433693G>A | CA475460771 | LRP5 | c.3855G>A (p.Glu1285=) c.*2461G>A (n.*2461G>A) c.2112G>A (p.Glu704=) c.3882G>A (p.Glu1294=) n.3897G>A c.1395G>A (p.Glu465=) | gnomAD v4 |
| 11 | g.68433693G>C | CA224250893 | LRP5 | c.3855G>C (p.Glu1285Asp) c.*2461G>C (n.*2461G>C) c.2112G>C (p.Glu704Asp) c.3882G>C (p.Glu1294Asp) n.3897G>C c.1395G>C (p.Glu465Asp) | ClinVar dbSNP |
| 11 | g.68433693G= | CA1980622140 | LRP5 | c.3855G= (p.Glu1285=) c.*2461G= (n.*2461G=) c.2112G= (p.Glu704=) c.3882G= (p.Glu1294=) n.3897G= c.1395G= (p.Glu465=) | |
| 11 | g.68433693G>T | CA381613761 | LRP5 | c.3855G>T (p.Glu1285Asp) c.*2461G>T (n.*2461G>T) c.2112G>T (p.Glu704Asp) c.3882G>T (p.Glu1294Asp) n.3897G>T c.1395G>T (p.Glu465Asp) | |
| 11 | g.68433694T>A | CA381613762 | LRP5 | c.3856T>A (p.Cys1286Ser) c.*2462T>A (n.*2462T>A) c.2113T>A (p.Cys705Ser) c.3883T>A (p.Cys1295Ser) n.3898T>A c.1396T>A (p.Cys466Ser) | |
| 11 | g.68433694T>C | CA381613763 | LRP5 | c.3856T>C (p.Cys1286Arg) c.*2462T>C (n.*2462T>C) c.2113T>C (p.Cys705Arg) c.3883T>C (p.Cys1295Arg) n.3898T>C c.1396T>C (p.Cys466Arg) | |
| 11 | g.68433694T>G | CA381613764 | LRP5 | c.3856T>G (p.Cys1286Gly) c.*2462T>G (n.*2462T>G) c.2113T>G (p.Cys705Gly) c.3883T>G (p.Cys1295Gly) n.3898T>G c.1396T>G (p.Cys466Gly) | |
| 11 | g.68433695G>A | CA381613765 | LRP5 | c.3857G>A (p.Cys1286Tyr) c.*2463G>A (n.*2463G>A) c.2114G>A (p.Cys705Tyr) c.3884G>A (p.Cys1295Tyr) n.3899G>A c.1397G>A (p.Cys466Tyr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68433695G>C | CA381613766 | LRP5 | c.3857G>C (p.Cys1286Ser) c.*2463G>C (n.*2463G>C) c.2114G>C (p.Cys705Ser) c.3884G>C (p.Cys1295Ser) n.3899G>C c.1397G>C (p.Cys466Ser) | |
| 11 | g.68433695G= | CA1980622147 | LRP5 | c.3857G= (p.Cys1286=) c.*2463G= (n.*2463G=) c.2114G= (p.Cys705=) c.3884G= (p.Cys1295=) n.3899G= c.1397G= (p.Cys466=) | |
| 11 | g.68433695G>T | CA381613767 | LRP5 | c.3857G>T (p.Cys1286Phe) c.*2463G>T (n.*2463G>T) c.2114G>T (p.Cys705Phe) c.3884G>T (p.Cys1295Phe) n.3899G>T c.1397G>T (p.Cys466Phe) | |
| 11 | g.68433696C>A | CA381613769 | LRP5 | c.3858C>A (p.Cys1286Ter) c.*2464C>A (n.*2464C>A) c.2115C>A (p.Cys705Ter) c.3885C>A (p.Cys1295Ter) n.3900C>A c.1398C>A (p.Cys466Ter) | |
| 11 | g.68433696C= | CA1980622169 | LRP5 | c.3858C= (p.Cys1286=) c.*2464C= (n.*2464C=) c.2115C= (p.Cys705=) c.3885C= (p.Cys1295=) n.3900C= c.1398C= (p.Cys466=) | |
| 11 | g.68433696C>G | CA381613768 | LRP5 | c.3858C>G (p.Cys1286Trp) c.*2464C>G (n.*2464C>G) c.2115C>G (p.Cys705Trp) c.3885C>G (p.Cys1295Trp) n.3900C>G c.1398C>G (p.Cys466Trp) | |
| 11 | g.68433696C>T | CA6150133 | LRP5 | c.3858C>T (p.Cys1286=) c.*2464C>T (n.*2464C>T) c.2115C>T (p.Cys705=) c.3885C>T (p.Cys1295=) n.3900C>T c.1398C>T (p.Cys466=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68433697G>A | CA381613770 | LRP5 | c.3859G>A (p.Asp1287Asn) c.*2465G>A (n.*2465G>A) c.2116G>A (p.Asp706Asn) c.3886G>A (p.Asp1296Asn) n.3901G>A c.1399G>A (p.Asp467Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68433697G>C | CA381613771 | LRP5 | c.3859G>C (p.Asp1287His) c.*2465G>C (n.*2465G>C) c.2116G>C (p.Asp706His) c.3886G>C (p.Asp1296His) n.3901G>C c.1399G>C (p.Asp467His) | ClinVar dbSNP |
| 11 | g.68433697G= | CA1980622177 | LRP5 | c.3859G= (p.Asp1287=) c.*2465G= (n.*2465G=) c.2116G= (p.Asp706=) c.3886G= (p.Asp1296=) n.3901G= c.1399G= (p.Asp467=) | |
| 11 | g.68433697G>T | CA381613772 | LRP5 | c.3859G>T (p.Asp1287Tyr) c.*2465G>T (n.*2465G>T) c.2116G>T (p.Asp706Tyr) c.3886G>T (p.Asp1296Tyr) n.3901G>T c.1399G>T (p.Asp467Tyr) | |
| 11 | g.68433699_68433701del | CA1139768694 | LRP5 | c.3861_3863del (p.Asp1288del) c.*2467_*2469del (n.*2467_*2469del) c.2118_2120del (p.Asp707del) c.3888_3890del (p.Asp1297del) n.3903_3905del c.1401_1403del (p.Asp468del) | |
| 11 | g.68433698A>C | CA381613773 | LRP5 | c.3860A>C (p.Asp1287Ala) c.*2466A>C (n.*2466A>C) c.2117A>C (p.Asp706Ala) c.3887A>C (p.Asp1296Ala) n.3902A>C c.1400A>C (p.Asp467Ala) | |
| 11 | g.68433698A>G | CA381613774 | LRP5 | c.3860A>G (p.Asp1287Gly) c.*2466A>G (n.*2466A>G) c.2117A>G (p.Asp706Gly) c.3887A>G (p.Asp1296Gly) n.3902A>G c.1400A>G (p.Asp467Gly) | gnomAD v4 |
| 11 | g.68433698A>T | CA381613775 | LRP5 | c.3860A>T (p.Asp1287Val) c.*2466A>T (n.*2466A>T) c.2117A>T (p.Asp706Val) c.3887A>T (p.Asp1296Val) n.3902A>T c.1400A>T (p.Asp467Val) | |
| 11 | g.68433699T>A | CA381613776 | LRP5 | c.3861T>A (p.Asp1287Glu) c.*2467T>A (n.*2467T>A) c.2118T>A (p.Asp706Glu) c.3888T>A (p.Asp1296Glu) n.3903T>A c.1401T>A (p.Asp467Glu) | |
| 11 | g.68433699T>C | CA6150134 | LRP5 | c.3861T>C (p.Asp1287=) c.*2467T>C (n.*2467T>C) c.2118T>C (p.Asp706=) c.3888T>C (p.Asp1296=) n.3903T>C c.1401T>C (p.Asp467=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433699T>G | CA381613777 | LRP5 | c.3861T>G (p.Asp1287Glu) c.*2467T>G (n.*2467T>G) c.2118T>G (p.Asp706Glu) c.3888T>G (p.Asp1296Glu) n.3903T>G c.1401T>G (p.Asp467Glu) | |
| 11 | g.68433699T= | CA1980622184 | LRP5 | c.3861T= (p.Asp1287=) c.*2467T= (n.*2467T=) c.2118T= (p.Asp706=) c.3888T= (p.Asp1296=) n.3903T= c.1401T= (p.Asp467=) | |
| 11 | g.68433700G>A | CA381613778 | LRP5 | c.3862G>A (p.Asp1288Asn) c.*2468G>A (n.*2468G>A) c.2119G>A (p.Asp707Asn) c.3889G>A (p.Asp1297Asn) n.3904G>A c.1402G>A (p.Asp468Asn) | gnomAD v4 |
| 11 | g.68433700G>C | CA381613779 | LRP5 | c.3862G>C (p.Asp1288His) c.*2468G>C (n.*2468G>C) c.2119G>C (p.Asp707His) c.3889G>C (p.Asp1297His) n.3904G>C c.1402G>C (p.Asp468His) | |
| 11 | g.68433700G>T | CA381613780 | LRP5 | c.3862G>T (p.Asp1288Tyr) c.*2468G>T (n.*2468G>T) c.2119G>T (p.Asp707Tyr) c.3889G>T (p.Asp1297Tyr) n.3904G>T c.1402G>T (p.Asp468Tyr) | |
| 11 | g.68433701A= | CA1980622191 | LRP5 | c.3863A= (p.Asp1288=) c.*2469A= (n.*2469A=) c.2120A= (p.Asp707=) c.3890A= (p.Asp1297=) n.3905A= c.1403A= (p.Asp468=) | |
| 11 | g.68433701A>C | CA381613782 | LRP5 | c.3863A>C (p.Asp1288Ala) c.*2469A>C (n.*2469A>C) c.2120A>C (p.Asp707Ala) c.3890A>C (p.Asp1297Ala) n.3905A>C c.1403A>C (p.Asp468Ala) | |
| 11 | g.68433701A>G | CA6150135 | LRP5 | c.3863A>G (p.Asp1288Gly) c.*2469A>G (n.*2469A>G) c.2120A>G (p.Asp707Gly) c.3890A>G (p.Asp1297Gly) n.3905A>G c.1403A>G (p.Asp468Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433701A>T | CA381613781 | LRP5 | c.3863A>T (p.Asp1288Val) c.*2469A>T (n.*2469A>T) c.2120A>T (p.Asp707Val) c.3890A>T (p.Asp1297Val) n.3905A>T c.1403A>T (p.Asp468Val) | |
| 11 | g.68433702C>A | CA381613783 | LRP5 | c.3864C>A (p.Asp1288Glu) c.*2470C>A (n.*2470C>A) c.2121C>A (p.Asp707Glu) c.3891C>A (p.Asp1297Glu) n.3906C>A c.1404C>A (p.Asp468Glu) | gnomAD v4 |
| 11 | g.68433702C>G | CA381613784 | LRP5 | c.3864C>G (p.Asp1288Glu) c.*2470C>G (n.*2470C>G) c.2121C>G (p.Asp707Glu) c.3891C>G (p.Asp1297Glu) n.3906C>G c.1404C>G (p.Asp468Glu) | |
| 11 | g.68433702C>T | CA475460772 | LRP5 | c.3864C>T (p.Asp1288=) c.*2470C>T (n.*2470C>T) c.2121C>T (p.Asp707=) c.3891C>T (p.Asp1297=) n.3906C>T c.1404C>T (p.Asp468=) | ClinVar |
| 11 | g.68433703C>A | CA381613785 | LRP5 | c.3865C>A (p.Gln1289Lys) c.*2471C>A (n.*2471C>A) c.2122C>A (p.Gln708Lys) c.3892C>A (p.Gln1298Lys) n.3907C>A c.1405C>A (p.Gln469Lys) | |
| 11 | g.68433703C>G | CA381613787 | LRP5 | c.3865C>G (p.Gln1289Glu) c.*2471C>G (n.*2471C>G) c.2122C>G (p.Gln708Glu) c.3892C>G (p.Gln1298Glu) n.3907C>G c.1405C>G (p.Gln469Glu) | |
| 11 | g.68433703C>T | CA381613786 | LRP5 | c.3865C>T (p.Gln1289Ter) c.*2471C>T (n.*2471C>T) c.2122C>T (p.Gln708Ter) c.3892C>T (p.Gln1298Ter) n.3907C>T c.1405C>T (p.Gln469Ter) | |
| 11 | g.68433704A>C | CA381613788 | LRP5 | c.3866A>C (p.Gln1289Pro) c.*2472A>C (n.*2472A>C) c.2123A>C (p.Gln708Pro) c.3893A>C (p.Gln1298Pro) n.3908A>C c.1406A>C (p.Gln469Pro) | |
| 11 | g.68433704A>G | CA381613789 | LRP5 | c.3866A>G (p.Gln1289Arg) c.*2472A>G (n.*2472A>G) c.2123A>G (p.Gln708Arg) c.3893A>G (p.Gln1298Arg) n.3908A>G c.1406A>G (p.Gln469Arg) | ClinVar |
| 11 | g.68433704A>T | CA381613790 | LRP5 | c.3866A>T (p.Gln1289Leu) c.*2472A>T (n.*2472A>T) c.2123A>T (p.Gln708Leu) c.3893A>T (p.Gln1298Leu) n.3908A>T c.1406A>T (p.Gln469Leu) | |
| 11 | g.68433705G>A | CA475460773 | LRP5 | c.3867G>A (p.Gln1289=) c.*2473G>A (n.*2473G>A) c.2124G>A (p.Gln708=) c.3894G>A (p.Gln1298=) n.3909G>A c.1407G>A (p.Gln469=) | |
| 11 | g.68433705G>C | CA6150136 | LRP5 | c.3867G>C (p.Gln1289His) c.*2473G>C (n.*2473G>C) c.2124G>C (p.Gln708His) c.3894G>C (p.Gln1298His) n.3909G>C c.1407G>C (p.Gln469His) | dbSNP ExAC gnomAD v4 |
| 11 | g.68433705G= | CA1980622197 | LRP5 | c.3867G= (p.Gln1289=) c.*2473G= (n.*2473G=) c.2124G= (p.Gln708=) c.3894G= (p.Gln1298=) n.3909G= c.1407G= (p.Gln469=) | |
| 11 | g.68433705G>T | CA381613791 | LRP5 | c.3867G>T (p.Gln1289His) c.*2473G>T (n.*2473G>T) c.2124G>T (p.Gln708His) c.3894G>T (p.Gln1298His) n.3909G>T c.1407G>T (p.Gln469His) | |
| 11 | g.68433706A= | CA1980622200 | LRP5 | c.3868A= (p.Ser1290=) c.*2474A= (n.*2474A=) c.2125A= (p.Ser709=) c.3895A= (p.Ser1299=) n.3910A= c.1408A= (p.Ser470=) | |
| 11 | g.68433706A>C | CA381613792 | LRP5 | c.3868A>C (p.Ser1290Arg) c.*2474A>C (n.*2474A>C) c.2125A>C (p.Ser709Arg) c.3895A>C (p.Ser1299Arg) n.3910A>C c.1408A>C (p.Ser470Arg) | |
| 11 | g.68433706A>G | CA381613793 | LRP5 | c.3868A>G (p.Ser1290Gly) c.*2474A>G (n.*2474A>G) c.2125A>G (p.Ser709Gly) c.3895A>G (p.Ser1299Gly) n.3910A>G c.1408A>G (p.Ser470Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68433706A>T | CA381613794 | LRP5 | c.3868A>T (p.Ser1290Cys) c.*2474A>T (n.*2474A>T) c.2125A>T (p.Ser709Cys) c.3895A>T (p.Ser1299Cys) n.3910A>T c.1408A>T (p.Ser470Cys) | |
| 11 | g.68433707G>A | CA381613795 | LRP5 | c.3869G>A (p.Ser1290Asn) c.*2475G>A (n.*2475G>A) c.2126G>A (p.Ser709Asn) c.3896G>A (p.Ser1299Asn) n.3911G>A c.1409G>A (p.Ser470Asn) | |
| 11 | g.68433707G>C | CA381613796 | LRP5 | c.3869G>C (p.Ser1290Thr) c.*2475G>C (n.*2475G>C) c.2126G>C (p.Ser709Thr) c.3896G>C (p.Ser1299Thr) n.3911G>C c.1409G>C (p.Ser470Thr) | |
| 11 | g.68433707G>T | CA381613797 | LRP5 | c.3869G>T (p.Ser1290Ile) c.*2475G>T (n.*2475G>T) c.2126G>T (p.Ser709Ile) c.3896G>T (p.Ser1299Ile) n.3911G>T c.1409G>T (p.Ser470Ile) | |
| 11 | g.68433708C>A | CA381613799 | LRP5 | c.3870C>A (p.Ser1290Arg) c.*2476C>A (n.*2476C>A) c.2127C>A (p.Ser709Arg) c.3897C>A (p.Ser1299Arg) n.3912C>A c.1410C>A (p.Ser470Arg) | |
| 11 | g.68433708C= | CA1980622202 | LRP5 | c.3870C= (p.Ser1290=) c.*2476C= (n.*2476C=) c.2127C= (p.Ser709=) c.3897C= (p.Ser1299=) n.3912C= c.1410C= (p.Ser470=) | |
| 11 | g.68433708C>G | CA381613798 | LRP5 | c.3870C>G (p.Ser1290Arg) c.*2476C>G (n.*2476C>G) c.2127C>G (p.Ser709Arg) c.3897C>G (p.Ser1299Arg) n.3912C>G c.1410C>G (p.Ser470Arg) | |
| 11 | g.68433708C>T | CA6150137 | LRP5 | c.3870C>T (p.Ser1290=) c.*2476C>T (n.*2476C>T) c.2127C>T (p.Ser709=) c.3897C>T (p.Ser1299=) n.3912C>T c.1410C>T (p.Ser470=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433709G>A | CA224250930 | LRP5 | c.3871G>A (p.Asp1291Asn) c.*2477G>A (n.*2477G>A) c.2128G>A (p.Asp710Asn) c.3898G>A (p.Asp1300Asn) n.3913G>A c.1411G>A (p.Asp471Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.68433709G>C | CA381613800 | LRP5 | c.3871G>C (p.Asp1291His) c.*2477G>C (n.*2477G>C) c.2128G>C (p.Asp710His) c.3898G>C (p.Asp1300His) n.3913G>C c.1411G>C (p.Asp471His) | |
| 11 | g.68433709G= | CA1980622206 | LRP5 | c.3871G= (p.Asp1291=) c.*2477G= (n.*2477G=) c.2128G= (p.Asp710=) c.3898G= (p.Asp1300=) n.3913G= c.1411G= (p.Asp471=) | |
| 11 | g.68433709G>T | CA381613801 | LRP5 | c.3871G>T (p.Asp1291Tyr) c.*2477G>T (n.*2477G>T) c.2128G>T (p.Asp710Tyr) c.3898G>T (p.Asp1300Tyr) n.3913G>T c.1411G>T (p.Asp471Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433710A>C | CA381613802 | LRP5 | c.3872A>C (p.Asp1291Ala) c.*2478A>C (n.*2478A>C) c.2129A>C (p.Asp710Ala) c.3899A>C (p.Asp1300Ala) n.3914A>C c.1412A>C (p.Asp471Ala) | |
| 11 | g.68433710A>G | CA381613803 | LRP5 | c.3872A>G (p.Asp1291Gly) c.*2478A>G (n.*2478A>G) c.2129A>G (p.Asp710Gly) c.3899A>G (p.Asp1300Gly) n.3914A>G c.1412A>G (p.Asp471Gly) | |
| 11 | g.68433710A>T | CA381613804 | LRP5 | c.3872A>T (p.Asp1291Val) c.*2478A>T (n.*2478A>T) c.2129A>T (p.Asp710Val) c.3899A>T (p.Asp1300Val) n.3914A>T c.1412A>T (p.Asp471Val) | |
| 11 | g.68433711C>A | CA381613805 | LRP5 | c.3873C>A (p.Asp1291Glu) c.*2479C>A (n.*2479C>A) c.2130C>A (p.Asp710Glu) c.3900C>A (p.Asp1300Glu) n.3915C>A c.1413C>A (p.Asp471Glu) | dbSNP |
| 11 | g.68433711C= | CA1980622212 | LRP5 | c.3873C= (p.Asp1291=) c.*2479C= (n.*2479C=) c.2130C= (p.Asp710=) c.3900C= (p.Asp1300=) n.3915C= c.1413C= (p.Asp471=) | |
| 11 | g.68433711C>G | CA381613806 | LRP5 | c.3873C>G (p.Asp1291Glu) c.*2479C>G (n.*2479C>G) c.2130C>G (p.Asp710Glu) c.3900C>G (p.Asp1300Glu) n.3915C>G c.1413C>G (p.Asp471Glu) | |
| 11 | g.68433711C>T | CA224250947 | LRP5 | c.3873C>T (p.Asp1291=) c.*2479C>T (n.*2479C>T) c.2130C>T (p.Asp710=) c.3900C>T (p.Asp1300=) n.3915C>T c.1413C>T (p.Asp471=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433712G>A | CA6150138 | LRP5 | c.3874G>A (p.Glu1292Lys) c.*2480G>A (n.*2480G>A) c.2131G>A (p.Glu711Lys) c.3901G>A (p.Glu1301Lys) n.3916G>A c.1414G>A (p.Glu472Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68433712G>C | CA381613807 | LRP5 | c.3874G>C (p.Glu1292Gln) c.*2480G>C (n.*2480G>C) c.2131G>C (p.Glu711Gln) c.3901G>C (p.Glu1301Gln) n.3916G>C c.1414G>C (p.Glu472Gln) | |
| 11 | g.68433712G= | CA1980622217 | LRP5 | c.3874G= (p.Glu1292=) c.*2480G= (n.*2480G=) c.2131G= (p.Glu711=) c.3901G= (p.Glu1301=) n.3916G= c.1414G= (p.Glu472=) | |
| 11 | g.68433712G>T | CA381613808 | LRP5 | c.3874G>T (p.Glu1292Ter) c.*2480G>T (n.*2480G>T) c.2131G>T (p.Glu711Ter) c.3901G>T (p.Glu1301Ter) n.3916G>T c.1414G>T (p.Glu472Ter) | gnomAD v4 |
| 11 | g.68433713A>C | CA381613810 | LRP5 | c.3875A>C (p.Glu1292Ala) c.*2481A>C (n.*2481A>C) c.2132A>C (p.Glu711Ala) c.3902A>C (p.Glu1301Ala) n.3917A>C c.1415A>C (p.Glu472Ala) | |
| 11 | g.68433713A>G | CA381613811 | LRP5 | c.3875A>G (p.Glu1292Gly) c.*2481A>G (n.*2481A>G) c.2132A>G (p.Glu711Gly) c.3902A>G (p.Glu1301Gly) n.3917A>G c.1415A>G (p.Glu472Gly) | gnomAD v4 |
| 11 | g.68433713A>T | CA381613809 | LRP5 | c.3875A>T (p.Glu1292Val) c.*2481A>T (n.*2481A>T) c.2132A>T (p.Glu711Val) c.3902A>T (p.Glu1301Val) n.3917A>T c.1415A>T (p.Glu472Val) | |
| 11 | g.68433714G>A | CA475460774 | LRP5 | c.3876G>A (p.Glu1292=) c.*2482G>A (n.*2482G>A) c.2133G>A (p.Glu711=) c.3903G>A (p.Glu1301=) n.3918G>A c.1416G>A (p.Glu472=) | |
| 11 | g.68433714G>C | CA6150139 | LRP5 | c.3876G>C (p.Glu1292Asp) c.*2482G>C (n.*2482G>C) c.2133G>C (p.Glu711Asp) c.3903G>C (p.Glu1301Asp) n.3918G>C c.1416G>C (p.Glu472Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68433714G= | CA1980622221 | LRP5 | c.3876G= (p.Glu1292=) c.*2482G= (n.*2482G=) c.2133G= (p.Glu711=) c.3903G= (p.Glu1301=) n.3918G= c.1416G= (p.Glu472=) | |
| 11 | g.68433714G>T | CA381613812 | LRP5 | c.3876G>T (p.Glu1292Asp) c.*2482G>T (n.*2482G>T) c.2133G>T (p.Glu711Asp) c.3903G>T (p.Glu1301Asp) n.3918G>T c.1416G>T (p.Glu472Asp) | |
| 11 | g.68433715G>A | CA6150140 | LRP5 | c.3877G>A (p.Glu1293Lys) c.*2483G>A (n.*2483G>A) c.2134G>A (p.Glu712Lys) c.3904G>A (p.Glu1302Lys) n.3919G>A c.1417G>A (p.Glu473Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68433715G>C | CA381613813 | LRP5 | c.3877G>C (p.Glu1293Gln) c.*2483G>C (n.*2483G>C) c.2134G>C (p.Glu712Gln) c.3904G>C (p.Glu1302Gln) n.3919G>C c.1417G>C (p.Glu473Gln) | |
| 11 | g.68433715G= | CA1980622224 | LRP5 | c.3877G= (p.Glu1293=) c.*2483G= (n.*2483G=) c.2134G= (p.Glu712=) c.3904G= (p.Glu1302=) n.3919G= c.1417G= (p.Glu473=) | |
| 11 | g.68433715G>T | CA381613814 | LRP5 | c.3877G>T (p.Glu1293Ter) c.*2483G>T (n.*2483G>T) c.2134G>T (p.Glu712Ter) c.3904G>T (p.Glu1302Ter) n.3919G>T c.1417G>T (p.Glu473Ter) | |
| 11 | g.68433716A>C | CA381613817 | LRP5 | c.3878A>C (p.Glu1293Ala) c.*2484A>C (n.*2484A>C) c.2135A>C (p.Glu712Ala) c.3905A>C (p.Glu1302Ala) n.3920A>C c.1418A>C (p.Glu473Ala) | |
| 11 | g.68433716A>G | CA381613816 | LRP5 | c.3878A>G (p.Glu1293Gly) c.*2484A>G (n.*2484A>G) c.2135A>G (p.Glu712Gly) c.3905A>G (p.Glu1302Gly) n.3920A>G c.1418A>G (p.Glu473Gly) | |
| 11 | g.68433716A>T | CA381613815 | LRP5 | c.3878A>T (p.Glu1293Val) c.*2484A>T (n.*2484A>T) c.2135A>T (p.Glu712Val) c.3905A>T (p.Glu1302Val) n.3920A>T c.1418A>T (p.Glu473Val) | |
| 11 | g.68433717G>A | CA6150141 | LRP5 | c.3879G>A (p.Glu1293=) c.*2485G>A (n.*2485G>A) c.2136G>A (p.Glu712=) c.3906G>A (p.Glu1302=) n.3921G>A c.1419G>A (p.Glu473=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433717G>C | CA381613818 | LRP5 | c.3879G>C (p.Glu1293Asp) c.*2485G>C (n.*2485G>C) c.2136G>C (p.Glu712Asp) c.3906G>C (p.Glu1302Asp) n.3921G>C c.1419G>C (p.Glu473Asp) | |
| 11 | g.68433717G= | CA1980622231 | LRP5 | c.3879G= (p.Glu1293=) c.*2485G= (n.*2485G=) c.2136G= (p.Glu712=) c.3906G= (p.Glu1302=) n.3921G= c.1419G= (p.Glu473=) | |
| 11 | g.68433717G>T | CA381613819 | LRP5 | c.3879G>T (p.Glu1293Asp) c.*2485G>T (n.*2485G>T) c.2136G>T (p.Glu712Asp) c.3906G>T (p.Glu1302Asp) n.3921G>T c.1419G>T (p.Glu473Asp) | |
| 11 | g.68433718G>A | CA381613820 | LRP5 | c.3880G>A (p.Gly1294Ser) c.*2486G>A (n.*2486G>A) c.2137G>A (p.Gly713Ser) c.3907G>A (p.Gly1303Ser) n.3922G>A c.1420G>A (p.Gly474Ser) | |
| 11 | g.68433718G>C | CA381613821 | LRP5 | c.3880G>C (p.Gly1294Arg) c.*2486G>C (n.*2486G>C) c.2137G>C (p.Gly713Arg) c.3907G>C (p.Gly1303Arg) n.3922G>C c.1420G>C (p.Gly474Arg) | |
| 11 | g.68433718G>T | CA381613822 | LRP5 | c.3880G>T (p.Gly1294Cys) c.*2486G>T (n.*2486G>T) c.2137G>T (p.Gly713Cys) c.3907G>T (p.Gly1303Cys) n.3922G>T c.1420G>T (p.Gly474Cys) | |
| 11 | g.68433718_68433719delinsAA | CA645591393 | LRP5 | c.3880_3881delinsAA (p.Gly1294Asn) c.*2486_*2487delinsAA (n.*2486_*2487delinsAA) c.2137_2138delinsAA (p.Gly713Asn) c.3907_3908delinsAA (p.Gly1303Asn) n.3922_3923delinsAA c.1420_1421delinsAA (p.Gly474Asn) | COSMIC |
| 11 | g.68433719G>A | CA381613823 | LRP5 | c.3881G>A (p.Gly1294Asp) c.*2487G>A (n.*2487G>A) c.2138G>A (p.Gly713Asp) c.3908G>A (p.Gly1303Asp) n.3923G>A c.1421G>A (p.Gly474Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68433719G>C | CA381613825 | LRP5 | c.3881G>C (p.Gly1294Ala) c.*2487G>C (n.*2487G>C) c.2138G>C (p.Gly713Ala) c.3908G>C (p.Gly1303Ala) n.3923G>C c.1421G>C (p.Gly474Ala) | |
| 11 | g.68433719G= | CA1980622238 | LRP5 | c.3881G= (p.Gly1294=) c.*2487G= (n.*2487G=) c.2138G= (p.Gly713=) c.3908G= (p.Gly1303=) n.3923G= c.1421G= (p.Gly474=) | |
| 11 | g.68433719G>T | CA381613824 | LRP5 | c.3881G>T (p.Gly1294Val) c.*2487G>T (n.*2487G>T) c.2138G>T (p.Gly713Val) c.3908G>T (p.Gly1303Val) n.3923G>T c.1421G>T (p.Gly474Val) | ClinVar |
| 11 | g.68433720C>A | CA475460775 | LRP5 | c.3882C>A (p.Gly1294=) c.*2488C>A (n.*2488C>A) c.2139C>A (p.Gly713=) c.3909C>A (p.Gly1303=) n.3924C>A c.1422C>A (p.Gly474=) | |
| 11 | g.68433720C>G | CA475460776 | LRP5 | c.3882C>G (p.Gly1294=) c.*2488C>G (n.*2488C>G) c.2139C>G (p.Gly713=) c.3909C>G (p.Gly1303=) n.3924C>G c.1422C>G (p.Gly474=) | |
| 11 | g.68433720C>T | CA475460777 | LRP5 | c.3882C>T (p.Gly1294=) c.*2488C>T (n.*2488C>T) c.2139C>T (p.Gly713=) c.3909C>T (p.Gly1303=) n.3924C>T c.1422C>T (p.Gly474=) | |
| 11 | g.68433721T>A | CA381613826 | LRP5 | c.3883T>A (p.Cys1295Ser) c.*2489T>A (n.*2489T>A) c.2140T>A (p.Cys714Ser) c.3910T>A (p.Cys1304Ser) n.3925T>A c.1423T>A (p.Cys475Ser) | |
| 11 | g.68433721T>C | CA381613827 | LRP5 | c.3883T>C (p.Cys1295Arg) c.*2489T>C (n.*2489T>C) c.2140T>C (p.Cys714Arg) c.3910T>C (p.Cys1304Arg) n.3925T>C c.1423T>C (p.Cys475Arg) | |
| 11 | g.68433721T>G | CA381613828 | LRP5 | c.3883T>G (p.Cys1295Gly) c.*2489T>G (n.*2489T>G) c.2140T>G (p.Cys714Gly) c.3910T>G (p.Cys1304Gly) n.3925T>G c.1423T>G (p.Cys475Gly) | |
| 11 | g.68433722G>A | CA381613829 | LRP5 | c.3884G>A (p.Cys1295Tyr) c.*2490G>A (n.*2490G>A) c.2141G>A (p.Cys714Tyr) c.3911G>A (p.Cys1304Tyr) n.3926G>A c.1424G>A (p.Cys475Tyr) | |
| 11 | g.68433722G>C | CA381613830 | LRP5 | c.3884G>C (p.Cys1295Ser) c.*2490G>C (n.*2490G>C) c.2141G>C (p.Cys714Ser) c.3911G>C (p.Cys1304Ser) n.3926G>C c.1424G>C (p.Cys475Ser) | |
| 11 | g.68433722G>T | CA381613831 | LRP5 | c.3884G>T (p.Cys1295Phe) c.*2490G>T (n.*2490G>T) c.2141G>T (p.Cys714Phe) c.3911G>T (p.Cys1304Phe) n.3926G>T c.1424G>T (p.Cys475Phe) | |
| 11 | g.68433723C>A | CA381613832 | LRP5 | c.3885C>A (p.Cys1295Ter) c.*2491C>A (n.*2491C>A) c.2142C>A (p.Cys714Ter) c.3912C>A (p.Cys1304Ter) n.3927C>A c.1425C>A (p.Cys475Ter) | |
| 11 | g.68433723C>G | CA381613833 | LRP5 | c.3885C>G (p.Cys1295Trp) c.*2491C>G (n.*2491C>G) c.2142C>G (p.Cys714Trp) c.3912C>G (p.Cys1304Trp) n.3927C>G c.1425C>G (p.Cys475Trp) | |
| 11 | g.68433723C>T | CA475460778 | LRP5 | c.3885C>T (p.Cys1295=) c.*2491C>T (n.*2491C>T) c.2142C>T (p.Cys714=) c.3912C>T (p.Cys1304=) n.3927C>T c.1425C>T (p.Cys475=) | |
| 11 | g.68433724C>A | CA381613834 | LRP5 | c.3886C>A (p.Pro1296Thr) c.*2492C>A (n.*2492C>A) c.2143C>A (p.Pro715Thr) c.3913C>A (p.Pro1305Thr) n.3928C>A c.1426C>A (p.Pro476Thr) | |
| 11 | g.68433724C= | CA1980622242 | LRP5 | c.3886C= (p.Pro1296=) c.*2492C= (n.*2492C=) c.2143C= (p.Pro715=) c.3913C= (p.Pro1305=) n.3928C= c.1426C= (p.Pro476=) | |
| 11 | g.68433724C>G | CA6150142 | LRP5 | c.3886C>G (p.Pro1296Ala) c.*2492C>G (n.*2492C>G) c.2143C>G (p.Pro715Ala) c.3913C>G (p.Pro1305Ala) n.3928C>G c.1426C>G (p.Pro476Ala) | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.68433724C>T | CA381613835 | LRP5 | c.3886C>T (p.Pro1296Ser) c.*2492C>T (n.*2492C>T) c.2143C>T (p.Pro715Ser) c.3913C>T (p.Pro1305Ser) n.3928C>T c.1426C>T (p.Pro476Ser) | dbSNP |
| 11 | g.68433725C>A | CA381613838 | LRP5 | c.3887C>A (p.Pro1296His) c.*2493C>A (n.*2493C>A) c.2144C>A (p.Pro715His) c.3914C>A (p.Pro1305His) n.3929C>A c.1427C>A (p.Pro476His) | |
| 11 | g.68433725C= | CA1980622247 | LRP5 | c.3887C= (p.Pro1296=) c.*2493C= (n.*2493C=) c.2144C= (p.Pro715=) c.3914C= (p.Pro1305=) n.3929C= c.1427C= (p.Pro476=) | |
| 11 | g.68433725C>G | CA381613837 | LRP5 | c.3887C>G (p.Pro1296Arg) c.*2493C>G (n.*2493C>G) c.2144C>G (p.Pro715Arg) c.3914C>G (p.Pro1305Arg) n.3929C>G c.1427C>G (p.Pro476Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68433725C>T | CA381613836 | LRP5 | c.3887C>T (p.Pro1296Leu) c.*2493C>T (n.*2493C>T) c.2144C>T (p.Pro715Leu) c.3914C>T (p.Pro1305Leu) n.3929C>T c.1427C>T (p.Pro476Leu) | COSMIC |
| 11 | g.68433726C>A | CA475460779 | LRP5 | c.3888C>A (p.Pro1296=) c.*2494C>A (n.*2494C>A) c.2145C>A (p.Pro715=) c.3915C>A (p.Pro1305=) n.3930C>A c.1428C>A (p.Pro476=) | |
| 11 | g.68433726C= | CA1980622254 | LRP5 | c.3888C= (p.Pro1296=) c.*2494C= (n.*2494C=) c.2145C= (p.Pro715=) c.3915C= (p.Pro1305=) n.3930C= c.1428C= (p.Pro476=) | |
| 11 | g.68433726C>G | CA475460780 | LRP5 | c.3888C>G (p.Pro1296=) c.*2494C>G (n.*2494C>G) c.2145C>G (p.Pro715=) c.3915C>G (p.Pro1305=) n.3930C>G c.1428C>G (p.Pro476=) | |
| 11 | g.68433726C>T | CA6150143 | LRP5 | c.3888C>T (p.Pro1296=) c.*2494C>T (n.*2494C>T) c.2145C>T (p.Pro715=) c.3915C>T (p.Pro1305=) n.3930C>T c.1428C>T (p.Pro476=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433727G>A | CA381613841 | LRP5 | c.3889G>A (p.Val1297Met) c.*2495G>A (n.*2495G>A) c.2146G>A (p.Val716Met) c.3916G>A (p.Val1306Met) n.3931G>A c.1429G>A (p.Val477Met) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68433727G>C | CA381613839 | LRP5 | c.3889G>C (p.Val1297Leu) c.*2495G>C (n.*2495G>C) c.2146G>C (p.Val716Leu) c.3916G>C (p.Val1306Leu) n.3931G>C c.1429G>C (p.Val477Leu) | |
| 11 | g.68433727G= | CA1980622262 | LRP5 | c.3889G= (p.Val1297=) c.*2495G= (n.*2495G=) c.2146G= (p.Val716=) c.3916G= (p.Val1306=) n.3931G= c.1429G= (p.Val477=) | |
| 11 | g.68433727G>T | CA381613840 | LRP5 | c.3889G>T (p.Val1297Leu) c.*2495G>T (n.*2495G>T) c.2146G>T (p.Val716Leu) c.3916G>T (p.Val1306Leu) n.3931G>T c.1429G>T (p.Val477Leu) | |
| 11 | g.68433728T>A | CA381613842 | LRP5 | c.3890T>A (p.Val1297Glu) c.*2496T>A (n.*2496T>A) c.2147T>A (p.Val716Glu) c.3917T>A (p.Val1306Glu) n.3932T>A c.1430T>A (p.Val477Glu) | |
| 11 | g.68433728T>C | CA381613843 | LRP5 | c.3890T>C (p.Val1297Ala) c.*2496T>C (n.*2496T>C) c.2147T>C (p.Val716Ala) c.3917T>C (p.Val1306Ala) n.3932T>C c.1430T>C (p.Val477Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68433728T>G | CA381613844 | LRP5 | c.3890T>G (p.Val1297Gly) c.*2496T>G (n.*2496T>G) c.2147T>G (p.Val716Gly) c.3917T>G (p.Val1306Gly) n.3932T>G c.1430T>G (p.Val477Gly) | |
| 11 | g.68433728T= | CA1980622265 | LRP5 | c.3890T= (p.Val1297=) c.*2496T= (n.*2496T=) c.2147T= (p.Val716=) c.3917T= (p.Val1306=) n.3932T= c.1430T= (p.Val477=) | |
| 11 | g.68433729G>A | CA475460781 | LRP5 | c.3891G>A (p.Val1297=) c.*2497G>A (n.*2497G>A) c.2148G>A (p.Val716=) c.3918G>A (p.Val1306=) n.3933G>A c.1431G>A (p.Val477=) | |
| 11 | g.68433729G>C | CA475460782 | LRP5 | c.3891G>C (p.Val1297=) c.*2497G>C (n.*2497G>C) c.2148G>C (p.Val716=) c.3918G>C (p.Val1306=) n.3933G>C c.1431G>C (p.Val477=) | |
| 11 | g.68433729G>T | CA475460783 | LRP5 | c.3891G>T (p.Val1297=) c.*2497G>T (n.*2497G>T) c.2148G>T (p.Val716=) c.3918G>T (p.Val1306=) n.3933G>T c.1431G>T (p.Val477=) | |
| 11 | g.68433730T>A | CA381613845 | LRP5 | c.3892T>A (p.Cys1298Ser) c.*2498T>A (n.*2498T>A) c.2149T>A (p.Cys717Ser) c.3919T>A (p.Cys1307Ser) n.3934T>A c.1432T>A (p.Cys478Ser) | |
| 11 | g.68433730T>C | CA381613846 | LRP5 | c.3892T>C (p.Cys1298Arg) c.*2498T>C (n.*2498T>C) c.2149T>C (p.Cys717Arg) c.3919T>C (p.Cys1307Arg) n.3934T>C c.1432T>C (p.Cys478Arg) | |
| 11 | g.68433730T>G | CA381613847 | LRP5 | c.3892T>G (p.Cys1298Gly) c.*2498T>G (n.*2498T>G) c.2149T>G (p.Cys717Gly) c.3919T>G (p.Cys1307Gly) n.3934T>G c.1432T>G (p.Cys478Gly) | |
| 11 | g.68433731G>A | CA381613848 | LRP5 | c.3893G>A (p.Cys1298Tyr) c.*2499G>A (n.*2499G>A) c.2150G>A (p.Cys717Tyr) c.3920G>A (p.Cys1307Tyr) n.3935G>A c.1433G>A (p.Cys478Tyr) | |
| 11 | g.68433731G>C | CA381613849 | LRP5 | c.3893G>C (p.Cys1298Ser) c.*2499G>C (n.*2499G>C) c.2150G>C (p.Cys717Ser) c.3920G>C (p.Cys1307Ser) n.3935G>C c.1433G>C (p.Cys478Ser) | |
| 11 | g.68433731G>T | CA381613850 | LRP5 | c.3893G>T (p.Cys1298Phe) c.*2499G>T (n.*2499G>T) c.2150G>T (p.Cys717Phe) c.3920G>T (p.Cys1307Phe) n.3935G>T c.1433G>T (p.Cys478Phe) | |
| 11 | g.68433732C>A | CA381613851 | LRP5 | c.3894C>A (p.Cys1298Ter) c.*2500C>A (n.*2500C>A) c.2151C>A (p.Cys717Ter) c.3921C>A (p.Cys1307Ter) n.3936C>A c.1434C>A (p.Cys478Ter) | |
| 11 | g.68433732C= | CA1980622269 | LRP5 | c.3894C= (p.Cys1298=) c.*2500C= (n.*2500C=) c.2151C= (p.Cys717=) c.3921C= (p.Cys1307=) n.3936C= c.1434C= (p.Cys478=) | |
| 11 | g.68433732C>G | CA381613852 | LRP5 | c.3894C>G (p.Cys1298Trp) c.*2500C>G (n.*2500C>G) c.2151C>G (p.Cys717Trp) c.3921C>G (p.Cys1307Trp) n.3936C>G c.1434C>G (p.Cys478Trp) | |
| 11 | g.68433732C>T | CA224250984 | LRP5 | c.3894C>T (p.Cys1298=) c.*2500C>T (n.*2500C>T) c.2151C>T (p.Cys717=) c.3921C>T (p.Cys1307=) n.3936C>T c.1434C>T (p.Cys478=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68433733T>A | CA381613855 | LRP5 | c.3895T>A (p.Ser1299Thr) c.*2501T>A (n.*2501T>A) c.2152T>A (p.Ser718Thr) c.3922T>A (p.Ser1308Thr) n.3937T>A c.1435T>A (p.Ser479Thr) | |
| 11 | g.68433733T>C | CA381613853 | LRP5 | c.3895T>C (p.Ser1299Pro) c.*2501T>C (n.*2501T>C) c.2152T>C (p.Ser718Pro) c.3922T>C (p.Ser1308Pro) n.3937T>C c.1435T>C (p.Ser479Pro) | dbSNP |
| 11 | g.68433733T>G | CA381613854 | LRP5 | c.3895T>G (p.Ser1299Ala) c.*2501T>G (n.*2501T>G) c.2152T>G (p.Ser718Ala) c.3922T>G (p.Ser1308Ala) n.3937T>G c.1435T>G (p.Ser479Ala) | |
| 11 | g.68433733T= | CA1980622275 | LRP5 | c.3895T= (p.Ser1299=) c.*2501T= (n.*2501T=) c.2152T= (p.Ser718=) c.3922T= (p.Ser1308=) n.3937T= c.1435T= (p.Ser479=) | |
| 11 | g.68433734C>A | CA381613856 | LRP5 | c.3896C>A (p.Ser1299Tyr) c.*2502C>A (n.*2502C>A) c.2153C>A (p.Ser718Tyr) c.3923C>A (p.Ser1308Tyr) n.3938C>A c.1436C>A (p.Ser479Tyr) | |
| 11 | g.68433734C>G | CA381613857 | LRP5 | c.3896C>G (p.Ser1299Cys) c.*2502C>G (n.*2502C>G) c.2153C>G (p.Ser718Cys) c.3923C>G (p.Ser1308Cys) n.3938C>G c.1436C>G (p.Ser479Cys) | |
| 11 | g.68433734C>T | CA381613858 | LRP5 | c.3896C>T (p.Ser1299Phe) c.*2502C>T (n.*2502C>T) c.2153C>T (p.Ser718Phe) c.3923C>T (p.Ser1308Phe) n.3938C>T c.1436C>T (p.Ser479Phe) | ClinVar gnomAD v4 |
| 11 | g.68433735C>A | CA475460784 | LRP5 | c.3897C>A (p.Ser1299=) c.*2503C>A (n.*2503C>A) c.2154C>A (p.Ser718=) c.3924C>A (p.Ser1308=) n.3939C>A c.1437C>A (p.Ser479=) | |
| 11 | g.68433735C= | CA1980622283 | LRP5 | c.3897C= (p.Ser1299=) c.*2503C= (n.*2503C=) c.2154C= (p.Ser718=) c.3924C= (p.Ser1308=) n.3939C= c.1437C= (p.Ser479=) | |
| 11 | g.68433735C>G | CA475460785 | LRP5 | c.3897C>G (p.Ser1299=) c.*2503C>G (n.*2503C>G) c.2154C>G (p.Ser718=) c.3924C>G (p.Ser1308=) n.3939C>G c.1437C>G (p.Ser479=) | |
| 11 | g.68433735C>T | CA6150144 | LRP5 | c.3897C>T (p.Ser1299=) c.*2503C>T (n.*2503C>T) c.2154C>T (p.Ser718=) c.3924C>T (p.Ser1308=) n.3939C>T c.1437C>T (p.Ser479=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433736G>A | CA6150145 | LRP5 | c.3898G>A (p.Ala1300Thr) c.*2504G>A (n.*2504G>A) c.2155G>A (p.Ala719Thr) c.3925G>A (p.Ala1309Thr) n.3940G>A c.1438G>A (p.Ala480Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68433736G>C | CA381613859 | LRP5 | c.3898G>C (p.Ala1300Pro) c.*2504G>C (n.*2504G>C) c.2155G>C (p.Ala719Pro) c.3925G>C (p.Ala1309Pro) n.3940G>C c.1438G>C (p.Ala480Pro) | |
| 11 | g.68433736G= | CA1980622290 | LRP5 | c.3898G= (p.Ala1300=) c.*2504G= (n.*2504G=) c.2155G= (p.Ala719=) c.3925G= (p.Ala1309=) n.3940G= c.1438G= (p.Ala480=) | |
| 11 | g.68433736G>T | CA381613860 | LRP5 | c.3898G>T (p.Ala1300Ser) c.*2504G>T (n.*2504G>T) c.2155G>T (p.Ala719Ser) c.3925G>T (p.Ala1309Ser) n.3940G>T c.1438G>T (p.Ala480Ser) | gnomAD v4 |
| 11 | g.68433737C>A | CA381613861 | LRP5 | c.3899C>A (p.Ala1300Asp) c.*2505C>A (n.*2505C>A) c.2156C>A (p.Ala719Asp) c.3926C>A (p.Ala1309Asp) n.3941C>A c.1439C>A (p.Ala480Asp) | |
| 11 | g.68433737C>G | CA381613862 | LRP5 | c.3899C>G (p.Ala1300Gly) c.*2505C>G (n.*2505C>G) c.2156C>G (p.Ala719Gly) c.3926C>G (p.Ala1309Gly) n.3941C>G c.1439C>G (p.Ala480Gly) | |
| 11 | g.68433737C>T | CA381613863 | LRP5 | c.3899C>T (p.Ala1300Val) c.*2505C>T (n.*2505C>T) c.2156C>T (p.Ala719Val) c.3926C>T (p.Ala1309Val) n.3941C>T c.1439C>T (p.Ala480Val) | |
| 11 | g.68433738C>A | CA475460786 | LRP5 | c.3900C>A (p.Ala1300=) c.*2506C>A (n.*2506C>A) c.2157C>A (p.Ala719=) c.3927C>A (p.Ala1309=) n.3942C>A c.1440C>A (p.Ala480=) | |
| 11 | g.68433738C= | CA1980622295 | LRP5 | c.3900C= (p.Ala1300=) c.*2506C= (n.*2506C=) c.2157C= (p.Ala719=) c.3927C= (p.Ala1309=) n.3942C= c.1440C= (p.Ala480=) | |
| 11 | g.68433738C>G | CA475460787 | LRP5 | c.3900C>G (p.Ala1300=) c.*2506C>G (n.*2506C>G) c.2157C>G (p.Ala719=) c.3927C>G (p.Ala1309=) n.3942C>G c.1440C>G (p.Ala480=) | gnomAD v4 |
| 11 | g.68433738C>T | CA6150146 | LRP5 | c.3900C>T (p.Ala1300=) c.*2506C>T (n.*2506C>T) c.2157C>T (p.Ala719=) c.3927C>T (p.Ala1309=) n.3942C>T c.1440C>T (p.Ala480=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433739G>A | CA6150147 | LRP5 | c.3901G>A (p.Ala1301Thr) c.*2507G>A (n.*2507G>A) c.2158G>A (p.Ala720Thr) c.3928G>A (p.Ala1310Thr) n.3943G>A c.1441G>A (p.Ala481Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433739G>C | CA381613865 | LRP5 | c.3901G>C (p.Ala1301Pro) c.*2507G>C (n.*2507G>C) c.2158G>C (p.Ala720Pro) c.3928G>C (p.Ala1310Pro) n.3943G>C c.1441G>C (p.Ala481Pro) | |
| 11 | g.68433739G= | CA1980622302 | LRP5 | c.3901G= (p.Ala1301=) c.*2507G= (n.*2507G=) c.2158G= (p.Ala720=) c.3928G= (p.Ala1310=) n.3943G= c.1441G= (p.Ala481=) | |
| 11 | g.68433739G>T | CA381613864 | LRP5 | c.3901G>T (p.Ala1301Ser) c.*2507G>T (n.*2507G>T) c.2158G>T (p.Ala720Ser) c.3928G>T (p.Ala1310Ser) n.3943G>T c.1441G>T (p.Ala481Ser) | |
| 11 | g.68433740C>A | CA381613866 | LRP5 | c.3902C>A (p.Ala1301Asp) c.*2508C>A (n.*2508C>A) c.2159C>A (p.Ala720Asp) c.3929C>A (p.Ala1310Asp) n.3944C>A c.1442C>A (p.Ala481Asp) | |
| 11 | g.68433740C>G | CA381613867 | LRP5 | c.3902C>G (p.Ala1301Gly) c.*2508C>G (n.*2508C>G) c.2159C>G (p.Ala720Gly) c.3929C>G (p.Ala1310Gly) n.3944C>G c.1442C>G (p.Ala481Gly) | |
| 11 | g.68433740C>T | CA381613868 | LRP5 | c.3902C>T (p.Ala1301Val) c.*2508C>T (n.*2508C>T) c.2159C>T (p.Ala720Val) c.3929C>T (p.Ala1310Val) n.3944C>T c.1442C>T (p.Ala481Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68433741C>A | CA475460788 | LRP5 | c.3903C>A (p.Ala1301=) c.*2509C>A (n.*2509C>A) c.2160C>A (p.Ala720=) c.3930C>A (p.Ala1310=) n.3945C>A c.1443C>A (p.Ala481=) | |
| 11 | g.68433741C= | CA1980622309 | LRP5 | c.3903C= (p.Ala1301=) c.*2509C= (n.*2509C=) c.2160C= (p.Ala720=) c.3930C= (p.Ala1310=) n.3945C= c.1443C= (p.Ala481=) | |
| 11 | g.68433741C>G | CA475460789 | LRP5 | c.3903C>G (p.Ala1301=) c.*2509C>G (n.*2509C>G) c.2160C>G (p.Ala720=) c.3930C>G (p.Ala1310=) n.3945C>G c.1443C>G (p.Ala481=) | |
| 11 | g.68433741C>T | CA475460790 | LRP5 | c.3903C>T (p.Ala1301=) c.*2509C>T (n.*2509C>T) c.2160C>T (p.Ala720=) c.3930C>T (p.Ala1310=) n.3945C>T c.1443C>T (p.Ala481=) | dbSNP |