WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.68433638C>A | CA381613646 | LRP5 | c.3800C>A (p.Ala1267Asp) c.*2406C>A (n.*2406C>A) c.2057C>A (p.Ala686Asp) c.3827C>A (p.Ala1276Asp) n.3842C>A c.1340C>A (p.Ala447Asp) | |
| 11 | g.68433638C>G | CA381613647 | LRP5 | c.3800C>G (p.Ala1267Gly) c.*2406C>G (n.*2406C>G) c.2057C>G (p.Ala686Gly) c.3827C>G (p.Ala1276Gly) n.3842C>G c.1340C>G (p.Ala447Gly) | gnomAD v4 |
| 11 | g.68433638C>T | CA381613645 | LRP5 | c.3800C>T (p.Ala1267Val) c.*2406C>T (n.*2406C>T) c.2057C>T (p.Ala686Val) c.3827C>T (p.Ala1276Val) n.3842C>T c.1340C>T (p.Ala447Val) | |
| 11 | g.68433639C>A | CA475460641 | LRP5 | c.3801C>A (p.Ala1267=) c.*2407C>A (n.*2407C>A) c.2058C>A (p.Ala686=) c.3828C>A (p.Ala1276=) n.3843C>A c.1341C>A (p.Ala447=) | |
| 11 | g.68433639C>G | CA475460642 | LRP5 | c.3801C>G (p.Ala1267=) c.*2407C>G (n.*2407C>G) c.2058C>G (p.Ala686=) c.3828C>G (p.Ala1276=) n.3843C>G c.1341C>G (p.Ala447=) | |
| 11 | g.68433639C>T | CA475460643 | LRP5 | c.3801C>T (p.Ala1267=) c.*2407C>T (n.*2407C>T) c.2058C>T (p.Ala686=) c.3828C>T (p.Ala1276=) n.3843C>T c.1341C>T (p.Ala447=) | |
| 11 | g.68433640A>C | CA381613648 | LRP5 | c.3802A>C (p.Thr1268Pro) c.*2408A>C (n.*2408A>C) c.2059A>C (p.Thr687Pro) c.3829A>C (p.Thr1277Pro) n.3844A>C c.1342A>C (p.Thr448Pro) | |
| 11 | g.68433640A>G | CA381613649 | LRP5 | c.3802A>G (p.Thr1268Ala) c.*2408A>G (n.*2408A>G) c.2059A>G (p.Thr687Ala) c.3829A>G (p.Thr1277Ala) n.3844A>G c.1342A>G (p.Thr448Ala) | |
| 11 | g.68433640A>T | CA381613650 | LRP5 | c.3802A>T (p.Thr1268Ser) c.*2408A>T (n.*2408A>T) c.2059A>T (p.Thr687Ser) c.3829A>T (p.Thr1277Ser) n.3844A>T c.1342A>T (p.Thr448Ser) | |
| 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 |