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.68433632C>A | CA381613632 | LRP5 | c.3794C>A (p.Ala1265Glu) c.*2400C>A (n.*2400C>A) c.2051C>A (p.Ala684Glu) c.3821C>A (p.Ala1274Glu) n.3836C>A c.1334C>A (p.Ala445Glu) | |
| 11 | g.68433632C= | CA1980622006 | LRP5 | c.3794C= (p.Ala1265=) c.*2400C= (n.*2400C=) c.2051C= (p.Ala684=) c.3821C= (p.Ala1274=) n.3836C= c.1334C= (p.Ala445=) | |
| 11 | g.68433632C>G | CA381613633 | LRP5 | c.3794C>G (p.Ala1265Gly) c.*2400C>G (n.*2400C>G) c.2051C>G (p.Ala684Gly) c.3821C>G (p.Ala1274Gly) n.3836C>G c.1334C>G (p.Ala445Gly) | |
| 11 | g.68433632C>T | CA224250755 | LRP5 | c.3794C>T (p.Ala1265Val) c.*2400C>T (n.*2400C>T) c.2051C>T (p.Ala684Val) c.3821C>T (p.Ala1274Val) n.3836C>T c.1334C>T (p.Ala445Val) | dbSNP gnomAD v4 |
| 11 | g.68433633A= | CA1980622009 | LRP5 | c.3795A= (p.Ala1265=) c.*2401A= (n.*2401A=) c.2052A= (p.Ala684=) c.3822A= (p.Ala1274=) n.3837A= c.1335A= (p.Ala445=) | |
| 11 | g.68433633A>C | CA475460634 | LRP5 | c.3795A>C (p.Ala1265=) c.*2401A>C (n.*2401A>C) c.2052A>C (p.Ala684=) c.3822A>C (p.Ala1274=) n.3837A>C c.1335A>C (p.Ala445=) | |
| 11 | g.68433633A>G | CA475460635 | LRP5 | c.3795A>G (p.Ala1265=) c.*2401A>G (n.*2401A>G) c.2052A>G (p.Ala684=) c.3822A>G (p.Ala1274=) n.3837A>G c.1335A>G (p.Ala445=) | ClinVar dbSNP |
| 11 | g.68433633A>T | CA475460637 | LRP5 | c.3795A>T (p.Ala1265=) c.*2401A>T (n.*2401A>T) c.2052A>T (p.Ala684=) c.3822A>T (p.Ala1274=) n.3837A>T c.1335A>T (p.Ala445=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68433634T>A | CA381613634 | LRP5 | c.3796T>A (p.Cys1266Ser) c.*2402T>A (n.*2402T>A) c.2053T>A (p.Cys685Ser) c.3823T>A (p.Cys1275Ser) n.3838T>A c.1336T>A (p.Cys446Ser) | |
| 11 | g.68433634T>C | CA381613635 | LRP5 | c.3796T>C (p.Cys1266Arg) c.*2402T>C (n.*2402T>C) c.2053T>C (p.Cys685Arg) c.3823T>C (p.Cys1275Arg) n.3838T>C c.1336T>C (p.Cys446Arg) | |
| 11 | g.68433634T>G | CA381613636 | LRP5 | c.3796T>G (p.Cys1266Gly) c.*2402T>G (n.*2402T>G) c.2053T>G (p.Cys685Gly) c.3823T>G (p.Cys1275Gly) n.3838T>G c.1336T>G (p.Cys446Gly) | |
| 11 | g.68433635G>A | CA381613637 | LRP5 | c.3797G>A (p.Cys1266Tyr) c.*2403G>A (n.*2403G>A) c.2054G>A (p.Cys685Tyr) c.3824G>A (p.Cys1275Tyr) n.3839G>A c.1337G>A (p.Cys446Tyr) | |
| 11 | g.68433635G>C | CA381613638 | LRP5 | c.3797G>C (p.Cys1266Ser) c.*2403G>C (n.*2403G>C) c.2054G>C (p.Cys685Ser) c.3824G>C (p.Cys1275Ser) n.3839G>C c.1337G>C (p.Cys446Ser) | |
| 11 | g.68433635G>T | CA381613639 | LRP5 | c.3797G>T (p.Cys1266Phe) c.*2403G>T (n.*2403G>T) c.2054G>T (p.Cys685Phe) c.3824G>T (p.Cys1275Phe) n.3839G>T c.1337G>T (p.Cys446Phe) | |
| 11 | g.68433636T>A | CA381613640 | LRP5 | c.3798T>A (p.Cys1266Ter) c.*2404T>A (n.*2404T>A) c.2055T>A (p.Cys685Ter) c.3825T>A (p.Cys1275Ter) n.3840T>A c.1338T>A (p.Cys446Ter) | |
| 11 | g.68433636T>C | CA475460638 | LRP5 | c.3798T>C (p.Cys1266=) c.*2404T>C (n.*2404T>C) c.2055T>C (p.Cys685=) c.3825T>C (p.Cys1275=) n.3840T>C c.1338T>C (p.Cys446=) | |
| 11 | g.68433636T>G | CA381613641 | LRP5 | c.3798T>G (p.Cys1266Trp) c.*2404T>G (n.*2404T>G) c.2055T>G (p.Cys685Trp) c.3825T>G (p.Cys1275Trp) n.3840T>G c.1338T>G (p.Cys446Trp) | |
| 11 | g.68433637G>A | CA381613642 | LRP5 | c.3799G>A (p.Ala1267Thr) c.*2405G>A (n.*2405G>A) c.2056G>A (p.Ala686Thr) c.3826G>A (p.Ala1276Thr) n.3841G>A c.1339G>A (p.Ala447Thr) | |
| 11 | g.68433637G>C | CA381613643 | LRP5 | c.3799G>C (p.Ala1267Pro) c.*2405G>C (n.*2405G>C) c.2056G>C (p.Ala686Pro) c.3826G>C (p.Ala1276Pro) n.3841G>C c.1339G>C (p.Ala447Pro) | |
| 11 | g.68433637G>T | CA381613644 | LRP5 | c.3799G>T (p.Ala1267Ser) c.*2405G>T (n.*2405G>T) c.2056G>T (p.Ala686Ser) c.3826G>T (p.Ala1276Ser) n.3841G>T c.1339G>T (p.Ala447Ser) | |
| 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=) |