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 |
|---|---|---|---|---|---|
| 19 | g.11113244_11120565del | CA2695195458 | LDLR | c.1445-34_2398+43del c.1187-34_*209+43del c.1067-34_2020+43del c.1187-34_2140+43del c.1441-34_2394+43del c.683-34_1636+43del c.1064-34_2017+43del c.806-34_1606+332del c.806-34_1759+43del n.1337-34_2150+43del n.1304-34_2300del n.1304-34_2117+43del | |
| 19 | g.11113288_11123238del | CA10585350 | LDLR | c.1455_2463del c.1197_*274del c.1077_2085del c.1197_2205del c.1451_2459del c.693_1701del c.1074_2082del c.816_1671del c.816_1824del n.1347_2215del n.1314_2539del n.1314_2182del | ClinVar |
| 19 | g.11117913_11122676del | CA10576322 | LDLR | c.2103+915_2399-498del c.1705+1701_*210-498del c.1725+915_2021-498del c.1845+915_2141-498del c.2099+915_2395-498del c.1341+915_1637-498del c.1722+915_2018-498del c.1464+915_1607-498del c.1464+915_1760-498del n.1855+1701_2151-498del n.1962+915_2475-498del n.1822+1701_2118-498del | ClinVar |
| 19 | g.11118198_11122020del | CA2573050614 | LDLR | c.2103+1200_2399-1154del c.1706-1894_*210-1154del c.1725+1200_2021-1154del c.1845+1200_2141-1154del c.2099+1200_2395-1154del c.1341+1200_1637-1154del c.1722+1200_2018-1154del c.1464+1200_1607-1154del c.1464+1200_1760-1154del n.1856-1894_2151-1154del n.1962+1200_2475-1154del n.1823-1894_2118-1154del | |
| 19 | g.11120093_11123345del | CA2695202625 | LDLR | c.2105_2569+1del c.1707_*380+1del c.1727_2191+1del c.1847_2311+1del c.2101_2565+1del c.1343_1807+1del c.1724_2188+1del c.1466_1777+1del c.1466_1930+1del n.1857_2321+1del n.1964_2645+1del n.1824_2288+1del | |
| 19 | g.11120091_11120523del | CA658824574 | LDLR | c.2104-1_2398+1del c.1706-1_*209+1del c.1726-1_2020+1del c.1846-1_2140+1del c.2100-1_2394+1del c.1342-1_1636+1del c.1723-1_2017+1del c.1465-1_1606+290del c.1465-1_1759+1del n.1856-1_2150+1del n.1963-1_2258del n.1823-1_2117+1del | ClinVar |
| 19 | g.11120091_11123345del | CA658824575 | LDLR | c.2104-1_2569+1del c.1706-1_*380+1del c.1726-1_2191+1del c.1846-1_2311+1del c.2100-1_2565+1del c.1342-1_1807+1del c.1723-1_2188+1del c.1465-1_1777+1del c.1465-1_1930+1del n.1856-1_2321+1del n.1963-1_2645+1del n.1823-1_2288+1del | ClinVar |
| 19 | g.11120111_11120144del | CA2497030093 | LDLR | c.2123_2156del (p.Asp708AlafsTer?) c.1725_1758del (p.Arg575SerfsTer?) c.1745_1778del (p.Asp582AlafsTer?) c.1865_1898del (p.Asp622AlafsTer?) c.2119_2152del c.1361_1394del (p.Asp454AlafsTer?) c.1742_1775del (p.Asp581AlafsTer?) c.1484_1517del (p.Asp495AlafsTer?) c.446_479del n.1875_1908del n.1982_2015del n.1842_1875del | |
| 19 | g.11120132del | CA10585675 | LDLR | c.2144del (p.Phe715SerfsTer?) c.1746del (p.Gln583SerfsTer?) c.1766del (p.Phe589SerfsTer?) c.1886del (p.Phe629SerfsTer?) c.2140del c.1382del (p.Phe461SerfsTer?) c.1763del (p.Phe588SerfsTer?) c.1505del (p.Phe502SerfsTer?) c.467del n.1896del n.2003del n.1863del | ClinVar dbSNP COSMIC |
| 19 | g.11120131_11120135delinsGATCATCAACC | CA2017997787 | LDLR | c.2143_2147delinsGATCATCAACC (p.Phe715_Ser716delinsAspHisGlnPro) c.1745_1749delinsGATCATCAACC (p.Phe582Ter) c.1765_1769delinsGATCATCAACC (p.Phe589_Ser590delinsAspHisGlnPro) c.1885_1889delinsGATCATCAACC (p.Phe629_Ser630delinsAspHisGlnPro) c.2139_2143delinsGATCATCAACC c.1381_1385delinsGATCATCAACC (p.Phe461_Ser462delinsAspHisGlnPro) c.1762_1766delinsGATCATCAACC (p.Phe588_Ser589delinsAspHisGlnPro) c.1504_1508delinsGATCATCAACC (p.Phe502_Ser503delinsAspHisGlnPro) c.466_470delinsGATCATCAACC n.1895_1899delinsGATCATCAACC n.2002_2006delinsGATCATCAACC n.1862_1866delinsGATCATCAACC | ClinVar |
| 19 | g.11120132T>A | CA404092630 | LDLR | c.2144T>A (p.Phe715Tyr) c.1746T>A (p.Phe582Leu) c.1766T>A (p.Phe589Tyr) c.1886T>A (p.Phe629Tyr) c.2140T>A c.1382T>A (p.Phe461Tyr) c.1763T>A (p.Phe588Tyr) c.1505T>A (p.Phe502Tyr) c.467T>A n.1896T>A n.2003T>A n.1863T>A | |
| 19 | g.11120132T>C | CA404092644 | LDLR | c.2144T>C (p.Phe715Ser) c.1746T>C (p.Phe582=) c.1766T>C (p.Phe589Ser) c.1886T>C (p.Phe629Ser) c.2140T>C c.1382T>C (p.Phe461Ser) c.1763T>C (p.Phe588Ser) c.1505T>C (p.Phe502Ser) c.467T>C n.1896T>C n.2003T>C n.1863T>C | |
| 19 | g.11120132T>G | CA10585674 | LDLR | c.2144T>G (p.Phe715Cys) c.1746T>G (p.Phe582Leu) c.1766T>G (p.Phe589Cys) c.1886T>G (p.Phe629Cys) c.2140T>G c.1382T>G (p.Phe461Cys) c.1763T>G (p.Phe588Cys) c.1505T>G (p.Phe502Cys) c.467T>G n.1896T>G n.2003T>G n.1863T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11120132T= | CA2322775371 | LDLR | c.2144T= (p.Phe715=) c.1746T= (p.Phe582=) c.1766T= (p.Phe589=) c.1886T= (p.Phe629=) c.2140T= c.1382T= (p.Phe461=) c.1763T= (p.Phe588=) c.1505T= (p.Phe502=) c.467T= n.1896T= n.2003T= n.1863T= | |
| 19 | g.11120133C>A | CA404092657 | LDLR | c.2145C>A (p.Phe715Leu) c.1747C>A (p.Gln583Lys) c.1767C>A (p.Phe589Leu) c.1887C>A (p.Phe629Leu) c.2141C>A c.1383C>A (p.Phe461Leu) c.1764C>A (p.Phe588Leu) c.1506C>A (p.Phe502Leu) c.468C>A n.1897C>A n.2004C>A n.1864C>A | |
| 19 | g.11120133C= | CA2322775372 | LDLR | c.2145C= (p.Phe715=) c.1747C= (p.Gln583=) c.1767C= (p.Phe589=) c.1887C= (p.Phe629=) c.2141C= c.1383C= (p.Phe461=) c.1764C= (p.Phe588=) c.1506C= (p.Phe502=) c.468C= n.1897C= n.2004C= n.1864C= | |
| 19 | g.11120133C>G | CA404092661 | LDLR | c.2145C>G (p.Phe715Leu) c.1747C>G (p.Gln583Glu) c.1767C>G (p.Phe589Leu) c.1887C>G (p.Phe629Leu) c.2141C>G c.1383C>G (p.Phe461Leu) c.1764C>G (p.Phe588Leu) c.1506C>G (p.Phe502Leu) c.468C>G n.1897C>G n.2004C>G n.1864C>G | |
| 19 | g.11120133C>T | CA037339 | LDLR | c.2145C>T (p.Phe715=) c.1747C>T (p.Gln583Ter) c.1767C>T (p.Phe589=) c.1887C>T (p.Phe629=) c.2141C>T c.1383C>T (p.Phe461=) c.1764C>T (p.Phe588=) c.1506C>T (p.Phe502=) c.468C>T n.1897C>T n.2004C>T n.1864C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11120134A= | CA2322775373 | LDLR | c.2146A= (p.Ser716=) c.1748A= (p.Gln583=) c.1768A= (p.Ser590=) c.1888A= (p.Ser630=) c.2142A= c.1384A= (p.Ser462=) c.1765A= (p.Ser589=) c.1507A= (p.Ser503=) c.469A= n.1898A= n.2005A= n.1865A= | |
| 19 | g.11120134A>C | CA404092662 | LDLR | c.2146A>C (p.Ser716Arg) c.1748A>C (p.Gln583Pro) c.1768A>C (p.Ser590Arg) c.1888A>C (p.Ser630Arg) c.2142A>C c.1384A>C (p.Ser462Arg) c.1765A>C (p.Ser589Arg) c.1507A>C (p.Ser503Arg) c.469A>C n.1898A>C n.2005A>C n.1865A>C | |
| 19 | g.11120134A>G | CA404092663 | LDLR | c.2146A>G (p.Ser716Gly) c.1748A>G (p.Gln583Arg) c.1768A>G (p.Ser590Gly) c.1888A>G (p.Ser630Gly) c.2142A>G c.1384A>G (p.Ser462Gly) c.1765A>G (p.Ser589Gly) c.1507A>G (p.Ser503Gly) c.469A>G n.1898A>G n.2005A>G n.1865A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.11120134A>T | CA404092667 | LDLR | c.2146A>T (p.Ser716Cys) c.1748A>T (p.Gln583Leu) c.1768A>T (p.Ser590Cys) c.1888A>T (p.Ser630Cys) c.2142A>T c.1384A>T (p.Ser462Cys) c.1765A>T (p.Ser589Cys) c.1507A>T (p.Ser503Cys) c.469A>T n.1898A>T n.2005A>T n.1865A>T | |
| 19 | g.11120134_11120135insAC | CA2695228159 | LDLR | c.2146_2147insAC (p.Ser716AsnfsTer?) c.1748_1749insAC (p.Cys584ArgfsTer?) c.1768_1769insAC (p.Ser590AsnfsTer?) c.1888_1889insAC (p.Ser630AsnfsTer?) c.2142_2143insAC c.1384_1385insAC (p.Ser462AsnfsTer?) c.1765_1766insAC (p.Ser589AsnfsTer?) c.1507_1508insAC (p.Ser503AsnfsTer?) c.469_470insAC n.1898_1899insAC n.2005_2006insAC n.1865_1866insAC | |
| 19 | g.11120135G>A | CA404092671 | LDLR | c.2147G>A (p.Ser716Asn) c.1749G>A (p.Gln583=) c.1769G>A (p.Ser590Asn) c.1889G>A (p.Ser630Asn) c.2143G>A c.1385G>A (p.Ser462Asn) c.1766G>A (p.Ser589Asn) c.1508G>A (p.Ser503Asn) c.470G>A n.1899G>A n.2006G>A n.1866G>A | |
| 19 | g.11120135G>C | CA404092673 | LDLR | c.2147G>C (p.Ser716Thr) c.1749G>C (p.Gln583His) c.1769G>C (p.Ser590Thr) c.1889G>C (p.Ser630Thr) c.2143G>C c.1385G>C (p.Ser462Thr) c.1766G>C (p.Ser589Thr) c.1508G>C (p.Ser503Thr) c.470G>C n.1899G>C n.2006G>C n.1866G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11120135G= | CA2322775374 | LDLR | c.2147G= (p.Ser716=) c.1749G= (p.Gln583=) c.1769G= (p.Ser590=) c.1889G= (p.Ser630=) c.2143G= c.1385G= (p.Ser462=) c.1766G= (p.Ser589=) c.1508G= (p.Ser503=) c.470G= n.1899G= n.2006G= n.1866G= | |
| 19 | g.11120135G>T | CA404092675 | LDLR | c.2147G>T (p.Ser716Ile) c.1749G>T (p.Gln583His) c.1769G>T (p.Ser590Ile) c.1889G>T (p.Ser630Ile) c.2143G>T c.1385G>T (p.Ser462Ile) c.1766G>T (p.Ser589Ile) c.1508G>T (p.Ser503Ile) c.470G>T n.1899G>T n.2006G>T n.1866G>T | |
| 19 | g.11120136T>A | CA404092681 | LDLR | c.2148T>A (p.Ser716Arg) c.1750T>A (p.Cys584Ser) c.1770T>A (p.Ser590Arg) c.1890T>A (p.Ser630Arg) c.2144T>A c.1386T>A (p.Ser462Arg) c.1767T>A (p.Ser589Arg) c.1509T>A (p.Ser503Arg) c.471T>A n.1900T>A n.2007T>A n.1867T>A | |
| 19 | g.11120136T>C | CA505743394 | LDLR | c.2148T>C (p.Ser716=) c.1750T>C (p.Cys584Arg) c.1770T>C (p.Ser590=) c.1890T>C (p.Ser630=) c.2144T>C c.1386T>C (p.Ser462=) c.1767T>C (p.Ser589=) c.1509T>C (p.Ser503=) c.471T>C n.1900T>C n.2007T>C n.1867T>C | gnomAD v4 |
| 19 | g.11120136T>G | CA404092684 | LDLR | c.2148T>G (p.Ser716Arg) c.1750T>G (p.Cys584Gly) c.1770T>G (p.Ser590Arg) c.1890T>G (p.Ser630Arg) c.2144T>G c.1386T>G (p.Ser462Arg) c.1767T>G (p.Ser589Arg) c.1509T>G (p.Ser503Arg) c.471T>G n.1900T>G n.2007T>G n.1867T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11120136T= | CA2322775375 | LDLR | c.2148T= (p.Ser716=) c.1750T= (p.Cys584=) c.1770T= (p.Ser590=) c.1890T= (p.Ser630=) c.2144T= c.1386T= (p.Ser462=) c.1767T= (p.Ser589=) c.1509T= (p.Ser503=) c.471T= n.1900T= n.2007T= n.1867T= | |
| 19 | g.11120137_11124406del | CA250475 | LDLR | c.2149_2569+1062del c.1751_*380+1062del c.1771_2191+1062del c.1891_2311+1062del c.2145_2565+1062del c.1387_1807+1062del c.1768_2188+1062del c.1510_1777+1062del c.1510_1930+1062del n.1901_2321+1062del n.2008_2645+1062del n.1868_2288+1062del | ClinVar |
| 19 | g.11120137G>A | CA404092690 | LDLR | c.2149G>A (p.Ala717Thr) c.1751G>A (p.Cys584Tyr) c.1771G>A (p.Ala591Thr) c.1891G>A (p.Ala631Thr) c.2145G>A c.1387G>A (p.Ala463Thr) c.1768G>A (p.Ala590Thr) c.1510G>A (p.Ala504Thr) c.472G>A n.1901G>A n.2008G>A n.1868G>A | |
| 19 | g.11120137G>C | CA404092693 | LDLR | c.2149G>C (p.Ala717Pro) c.1751G>C (p.Cys584Ser) c.1771G>C (p.Ala591Pro) c.1891G>C (p.Ala631Pro) c.2145G>C c.1387G>C (p.Ala463Pro) c.1768G>C (p.Ala590Pro) c.1510G>C (p.Ala504Pro) c.472G>C n.1901G>C n.2008G>C n.1868G>C | ClinVar |
| 19 | g.11120137G>T | CA404092697 | LDLR | c.2149G>T (p.Ala717Ser) c.1751G>T (p.Cys584Phe) c.1771G>T (p.Ala591Ser) c.1891G>T (p.Ala631Ser) c.2145G>T c.1387G>T (p.Ala463Ser) c.1768G>T (p.Ala590Ser) c.1510G>T (p.Ala504Ser) c.472G>T n.1901G>T n.2008G>T n.1868G>T | |
| 19 | g.11120137_11124409del | CA916081229 | LDLR | c.2149_2569+1065del c.1751_*380+1065del c.1771_2191+1065del c.1891_2311+1065del c.2145_2565+1065del c.1387_1807+1065del c.1768_2188+1065del c.1510_1777+1065del c.1510_1930+1065del n.1901_2321+1065del n.2008_2645+1065del n.1868_2288+1065del | ClinVar |
| 19 | g.11120137_11124409delinsCTCAGCACTTTGGG | CA2573050615 | LDLR | c.2149_2569+1065delinsCTCAGCACTTTGGG c.1751_*380+1065delinsCTCAGCACTTTGGG c.1771_2191+1065delinsCTCAGCACTTTGGG c.1891_2311+1065delinsCTCAGCACTTTGGG c.2145_2565+1065delinsCTCAGCACTTTGGG c.1387_1807+1065delinsCTCAGCACTTTGGG c.1768_2188+1065delinsCTCAGCACTTTGGG c.1510_1777+1065delinsCTCAGCACTTTGGG c.1510_1930+1065delinsCTCAGCACTTTGGG n.1901_2321+1065delinsCTCAGCACTTTGGG n.2008_2645+1065delinsCTCAGCACTTTGGG n.1868_2288+1065delinsCTCAGCACTTTGGG | |
| 19 | g.11120138C>A | CA10585676 | LDLR | c.2150C>A (p.Ala717Asp) c.1752C>A (p.Cys584Ter) c.1772C>A (p.Ala591Asp) c.1892C>A (p.Ala631Asp) c.2146C>A c.1388C>A (p.Ala463Asp) c.1769C>A (p.Ala590Asp) c.1511C>A (p.Ala504Asp) c.473C>A n.1902C>A n.2009C>A n.1869C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11120138C= | CA2322775376 | LDLR | c.2150C= (p.Ala717=) c.1752C= (p.Cys584=) c.1772C= (p.Ala591=) c.1892C= (p.Ala631=) c.2146C= c.1388C= (p.Ala463=) c.1769C= (p.Ala590=) c.1511C= (p.Ala504=) c.473C= n.1902C= n.2009C= n.1869C= | |
| 19 | g.11120138C>G | CA404092704 | LDLR | c.2150C>G (p.Ala717Gly) c.1752C>G (p.Cys584Trp) c.1772C>G (p.Ala591Gly) c.1892C>G (p.Ala631Gly) c.2146C>G c.1388C>G (p.Ala463Gly) c.1769C>G (p.Ala590Gly) c.1511C>G (p.Ala504Gly) c.473C>G n.1902C>G n.2009C>G n.1869C>G | |
| 19 | g.11120138C>T | CA404092706 | LDLR | c.2150C>T (p.Ala717Val) c.1752C>T (p.Cys584=) c.1772C>T (p.Ala591Val) c.1892C>T (p.Ala631Val) c.2146C>T c.1388C>T (p.Ala463Val) c.1769C>T (p.Ala590Val) c.1511C>T (p.Ala504Val) c.473C>T n.1902C>T n.2009C>T n.1869C>T | gnomAD v4 |
| 19 | g.11120139C>A | CA505743396 | LDLR | c.2151C>A (p.Ala717=) c.1753C>A (p.Gln585Lys) c.1773C>A (p.Ala591=) c.1893C>A (p.Ala631=) c.2147C>A c.1389C>A (p.Ala463=) c.1770C>A (p.Ala590=) c.1512C>A (p.Ala504=) c.474C>A n.1903C>A n.2010C>A n.1870C>A | |
| 19 | g.11120139C>G | CA505743397 | LDLR | c.2151C>G (p.Ala717=) c.1753C>G (p.Gln585Glu) c.1773C>G (p.Ala591=) c.1893C>G (p.Ala631=) c.2147C>G c.1389C>G (p.Ala463=) c.1770C>G (p.Ala590=) c.1512C>G (p.Ala504=) c.474C>G n.1903C>G n.2010C>G n.1870C>G | |
| 19 | g.11120139C>T | CA505743398 | LDLR | c.2151C>T (p.Ala717=) c.1753C>T (p.Gln585Ter) c.1773C>T (p.Ala591=) c.1893C>T (p.Ala631=) c.2147C>T c.1389C>T (p.Ala463=) c.1770C>T (p.Ala590=) c.1512C>T (p.Ala504=) c.474C>T n.1903C>T n.2010C>T n.1870C>T | gnomAD v4 |
| 19 | g.11120140A>C | CA404092712 | LDLR | c.2152A>C (p.Asn718His) c.1754A>C (p.Gln585Pro) c.1774A>C (p.Asn592His) c.1894A>C (p.Asn632His) c.2148A>C c.1390A>C (p.Asn464His) c.1771A>C (p.Asn591His) c.1513A>C (p.Asn505His) c.475A>C n.1904A>C n.2011A>C n.1871A>C | gnomAD v4 |
| 19 | g.11120140A>G | CA404092716 | LDLR | c.2152A>G (p.Asn718Asp) c.1754A>G (p.Gln585Arg) c.1774A>G (p.Asn592Asp) c.1894A>G (p.Asn632Asp) c.2148A>G c.1390A>G (p.Asn464Asp) c.1771A>G (p.Asn591Asp) c.1513A>G (p.Asn505Asp) c.475A>G n.1904A>G n.2011A>G n.1871A>G | |
| 19 | g.11120140A>T | CA404092720 | LDLR | c.2152A>T (p.Asn718Tyr) c.1754A>T (p.Gln585Leu) c.1774A>T (p.Asn592Tyr) c.1894A>T (p.Asn632Tyr) c.2148A>T c.1390A>T (p.Asn464Tyr) c.1771A>T (p.Asn591Tyr) c.1513A>T (p.Asn505Tyr) c.475A>T n.1904A>T n.2011A>T n.1871A>T | |
| 19 | g.11120141A= | CA2322775377 | LDLR | c.2153A= (p.Asn718=) c.1755A= (p.Gln585=) c.1775A= (p.Asn592=) c.1895A= (p.Asn632=) c.2149A= c.1391A= (p.Asn464=) c.1772A= (p.Asn591=) c.1514A= (p.Asn505=) c.476A= n.1905A= n.2012A= n.1872A= | |
| 19 | g.11120141A>C | CA404092727 | LDLR | c.2153A>C (p.Asn718Thr) c.1755A>C (p.Gln585His) c.1775A>C (p.Asn592Thr) c.1895A>C (p.Asn632Thr) c.2149A>C c.1391A>C (p.Asn464Thr) c.1772A>C (p.Asn591Thr) c.1514A>C (p.Asn505Thr) c.476A>C n.1905A>C n.2012A>C n.1872A>C | |
| 19 | g.11120141A>G | CA404092731 | LDLR | c.2153A>G (p.Asn718Ser) c.1755A>G (p.Gln585=) c.1775A>G (p.Asn592Ser) c.1895A>G (p.Asn632Ser) c.2149A>G c.1391A>G (p.Asn464Ser) c.1772A>G (p.Asn591Ser) c.1514A>G (p.Asn505Ser) c.476A>G n.1905A>G n.2012A>G n.1872A>G | ClinVar dbSNP gnomAD v4 |