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.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.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.11120317_11120388delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG | CA2322775493 | LDLR | c.2246-53_2264delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG c.*57-53_*75delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG c.1868-53_1886delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG c.1988-53_2006delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG c.2242-53_2260delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG c.1484-53_1502delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG c.1865-53_1883delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG c.1606+84_1606+155delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG (n.1606+84_1606+155delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG) c.569-53_587delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG c.1607-53_1625delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG n.1998-53_2016delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG n.2105-53_2123delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG n.1965-53_1983delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG | |
| 19 | g.11120318_11120388del | CA10585711 | LDLR | c.2246-52_2264del c.*57-52_*75del c.1868-52_1886del c.1988-52_2006del c.2242-52_2260del c.1484-52_1502del c.1865-52_1883del c.1606+85_1606+155del (n.1606+85_1606+155del) c.569-52_587del c.1607-52_1625del n.1998-52_2016del n.2105-52_2123del n.1965-52_1983del | ClinVar dbSNP |
| 19 | g.11120320_11120389del | CA2497030039 | LDLR | c.2246-50_2265del c.*57-50_*76del c.1868-50_1887del c.1988-50_2007del c.2242-50_2261del c.1484-50_1503del c.1865-50_1884del c.1606+87_1606+156del (n.1606+87_1606+156del) c.569-50_588del c.1607-50_1626del n.1998-50_2017del n.2105-50_2124del n.1965-50_1984del | ClinVar |
| 19 | g.11120370_11121586del | CA913189004 | LDLR | c.2246_2398+1064del c.*57_*209+1064del c.1868_2020+1064del c.1988_2140+1064del c.2242_2394+1064del c.1484_1636+1064del c.1865_2017+1064del c.1606+137_1606+1353del (n.1606+137_1606+1353del) c.1607_1759+1064del n.1998_2150+1064del n.2105_2474+847del n.1965_2117+1064del | |
| 19 | g.11120375_11120392delinsAACTGGTGTGAGAGGACC | CA2322775529 | LDLR | c.2251_2268delinsAACTGGTGTGAGAGGACC (p.Asn751=) c.*62_*79delinsAACTGGTGTGAGAGGACC (n.*62_*79delinsAACTGGTGTGAGAGGACC) c.1873_1890delinsAACTGGTGTGAGAGGACC (p.Asn625=) c.1993_2010delinsAACTGGTGTGAGAGGACC (p.Asn665=) c.2247_2264delinsAACTGGTGTGAGAGGACC c.1489_1506delinsAACTGGTGTGAGAGGACC (p.Asn497=) c.1870_1887delinsAACTGGTGTGAGAGGACC (p.Asn624=) c.1606+142_1606+159delinsAACTGGTGTGAGAGGACC (n.1606+142_1606+159delinsAACTGGTGTGAGAGGACC) c.574_591delinsAACTGGTGTGAGAGGACC c.1612_1629delinsAACTGGTGTGAGAGGACC (p.Asn538=) n.2003_2020delinsAACTGGTGTGAGAGGACC n.2110_2127delinsAACTGGTGTGAGAGGACC n.1970_1987delinsAACTGGTGTGAGAGGACC | |
| 19 | g.11120378_11120394del | CA10585716 | LDLR | c.2254_2270del (p.Trp752ProfsTer?) c.*65_*81del (n.*65_*81del) c.1876_1892del (p.Trp626ProfsTer?) c.1996_2012del (p.Trp666ProfsTer?) c.2250_2266del c.1492_1508del (p.Trp498ProfsTer?) c.1873_1889del (p.Trp625ProfsTer?) c.1606+145_1606+161del (n.1606+145_1606+161del) c.577_593del c.1615_1631del (p.Trp539ProfsTer?) n.2006_2022del n.2113_2129del n.1973_1989del | ClinVar dbSNP |
| 19 | g.11120377_11120383dup | CA2573050618 | LDLR | c.2253_2259dup (p.Glu754LeufsTer3) c.*64_*70dup (n.*64_*70dup) c.1875_1881dup (p.Glu628LeufsTer3) c.1995_2001dup (p.Glu668LeufsTer3) c.2249_2255dup c.1491_1497dup (p.Glu500LeufsTer3) c.1872_1878dup (p.Glu627LeufsTer3) c.1606+144_1606+150dup (n.1606+144_1606+150dup) c.576_582dup c.1614_1620dup (p.Glu541LeufsTer3) n.2005_2011dup n.2112_2118dup n.1972_1978dup | |
| 19 | g.11120379_11120381delinsGGT | CA2322775533 | LDLR | c.2255_2257delinsGGT (p.Trp752=) c.*66_*68delinsGGT (n.*66_*68delinsGGT) c.1877_1879delinsGGT (p.Trp626=) c.1997_1999delinsGGT (p.Trp666=) c.2251_2253delinsGGT c.1493_1495delinsGGT (p.Trp498=) c.1874_1876delinsGGT (p.Trp625=) c.1606+146_1606+148delinsGGT (n.1606+146_1606+148delinsGGT) c.578_580delinsGGT c.1616_1618delinsGGT (p.Trp539=) n.2007_2009delinsGGT n.2114_2116delinsGGT n.1974_1976delinsGGT | |
| 19 | g.11120383_11120384del | CA913189005 | LDLR | c.2259_2260del (p.Cys753Ter) c.*70_*71del (n.*70_*71del) c.1881_1882del (p.Cys627Ter) c.2001_2002del (p.Cys667Ter) c.2255_2256del c.1497_1498del (p.Cys499Ter) c.1878_1879del (p.Cys626Ter) c.1606+150_1606+151del (n.1606+150_1606+151del) c.582_583del c.1620_1621del (p.Cys540Ter) n.2011_2012del n.2118_2119del n.1978_1979del | ClinVar dbSNP |
| 19 | g.11120381T>A | CA10585721 | LDLR | c.2257T>A (p.Cys753Ser) c.*68T>A (n.*68T>A) c.1879T>A (p.Cys627Ser) c.1999T>A (p.Cys667Ser) c.2253T>A c.1495T>A (p.Cys499Ser) c.1876T>A (p.Cys626Ser) c.1606+148T>A (n.1606+148T>A) c.580T>A c.1618T>A (p.Cys540Ser) n.2009T>A n.2116T>A n.1976T>A | ClinVar dbSNP |
| 19 | g.11120381T>C | CA10585722 | LDLR | c.2257T>C (p.Cys753Arg) c.*68T>C (n.*68T>C) c.1879T>C (p.Cys627Arg) c.1999T>C (p.Cys667Arg) c.2253T>C c.1495T>C (p.Cys499Arg) c.1876T>C (p.Cys626Arg) c.1606+148T>C (n.1606+148T>C) c.580T>C c.1618T>C (p.Cys540Arg) n.2009T>C n.2116T>C n.1976T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11120381T>G | CA404093443 | LDLR | c.2257T>G (p.Cys753Gly) c.*68T>G (n.*68T>G) c.1879T>G (p.Cys627Gly) c.1999T>G (p.Cys667Gly) c.2253T>G c.1495T>G (p.Cys499Gly) c.1876T>G (p.Cys626Gly) c.1606+148T>G (n.1606+148T>G) c.580T>G c.1618T>G (p.Cys540Gly) n.2009T>G n.2116T>G n.1976T>G | ClinVar |
| 19 | g.11120381T= | CA2322775536 | LDLR | c.2257T= (p.Cys753=) c.*68T= (n.*68T=) c.1879T= (p.Cys627=) c.1999T= (p.Cys667=) c.2253T= c.1495T= (p.Cys499=) c.1876T= (p.Cys626=) c.1606+148T= (n.1606+148T=) c.580T= c.1618T= (p.Cys540=) n.2009T= n.2116T= n.1976T= | |
| 19 | g.11120381_11120382delinsTG | CA2322775537 | LDLR | c.2257_2258delinsTG (p.Cys753=) c.*68_*69delinsTG (n.*68_*69delinsTG) c.1879_1880delinsTG (p.Cys627=) c.1999_2000delinsTG (p.Cys667=) c.2253_2254delinsTG c.1495_1496delinsTG (p.Cys499=) c.1876_1877delinsTG (p.Cys626=) c.1606+148_1606+149delinsTG (n.1606+148_1606+149delinsTG) c.580_581delinsTG c.1618_1619delinsTG (p.Cys540=) n.2009_2010delinsTG n.2116_2117delinsTG n.1976_1977delinsTG | |
| 19 | g.11120381_11120388delinsTGTGAGAG | CA2322775538 | LDLR | c.2257_2264delinsTGTGAGAG (p.Cys753=) c.*68_*75delinsTGTGAGAG (n.*68_*75delinsTGTGAGAG) c.1879_1886delinsTGTGAGAG (p.Cys627=) c.1999_2006delinsTGTGAGAG (p.Cys667=) c.2253_2260delinsTGTGAGAG c.1495_1502delinsTGTGAGAG (p.Cys499=) c.1876_1883delinsTGTGAGAG (p.Cys626=) c.1606+148_1606+155delinsTGTGAGAG (n.1606+148_1606+155delinsTGTGAGAG) c.580_587delinsTGTGAGAG c.1618_1625delinsTGTGAGAG (p.Cys540=) n.2009_2016delinsTGTGAGAG n.2116_2123delinsTGTGAGAG n.1976_1983delinsTGTGAGAG | |
| 19 | g.11120382del | CA10585724 | LDLR | c.2258del (p.Cys753LeufsTer6) c.*69del (n.*69del) c.1880del (p.Cys627LeufsTer6) c.2000del (p.Cys667LeufsTer6) c.2254del c.1496del (p.Cys499LeufsTer6) c.1877del (p.Cys626LeufsTer6) c.1606+149del (n.1606+149del) c.581del c.1619del (p.Cys540LeufsTer6) n.2010del n.2117del n.1977del | ClinVar dbSNP |
| 19 | g.11120382G>A | CA023621 | LDLR | c.2258G>A (p.Cys753Tyr) c.*69G>A (n.*69G>A) c.1880G>A (p.Cys627Tyr) c.2000G>A (p.Cys667Tyr) c.2254G>A c.1496G>A (p.Cys499Tyr) c.1877G>A (p.Cys626Tyr) c.1606+149G>A (n.1606+149G>A) c.581G>A c.1619G>A (p.Cys540Tyr) n.2010G>A n.2117G>A n.1977G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11120382G>C | CA404093449 | LDLR | c.2258G>C (p.Cys753Ser) c.*69G>C (n.*69G>C) c.1880G>C (p.Cys627Ser) c.2000G>C (p.Cys667Ser) c.2254G>C c.1496G>C (p.Cys499Ser) c.1877G>C (p.Cys626Ser) c.1606+149G>C (n.1606+149G>C) c.581G>C c.1619G>C (p.Cys540Ser) n.2010G>C n.2117G>C n.1977G>C | |
| 19 | g.11120382G= | CA2322775540 | LDLR | c.2258G= (p.Cys753=) c.*69G= (n.*69G=) c.1880G= (p.Cys627=) c.2000G= (p.Cys667=) c.2254G= c.1496G= (p.Cys499=) c.1877G= (p.Cys626=) c.1606+149G= (n.1606+149G=) c.581G= c.1619G= (p.Cys540=) n.2010G= n.2117G= n.1977G= | |
| 19 | g.11120382G>T | CA10585723 | LDLR | c.2258G>T (p.Cys753Phe) c.*69G>T (n.*69G>T) c.1880G>T (p.Cys627Phe) c.2000G>T (p.Cys667Phe) c.2254G>T c.1496G>T (p.Cys499Phe) c.1877G>T (p.Cys626Phe) c.1606+149G>T (n.1606+149G>T) c.581G>T c.1619G>T (p.Cys540Phe) n.2010G>T n.2117G>T n.1977G>T | ClinVar dbSNP |
| 19 | g.11120382_11120383delinsGT | CA2322775539 | LDLR | c.2258_2259delinsGT (p.Cys753=) c.*69_*70delinsGT (n.*69_*70delinsGT) c.1880_1881delinsGT (p.Cys627=) c.2000_2001delinsGT (p.Cys667=) c.2254_2255delinsGT c.1496_1497delinsGT (p.Cys499=) c.1877_1878delinsGT (p.Cys626=) c.1606+149_1606+150delinsGT (n.1606+149_1606+150delinsGT) c.581_582delinsGT c.1619_1620delinsGT (p.Cys540=) n.2010_2011delinsGT n.2117_2118delinsGT n.1977_1978delinsGT | |
| 19 | g.11120383_11120389del | CA10585727 | LDLR | c.2259_2265del (p.Cys753Ter) c.*70_*76del (n.*70_*76del) c.1881_1887del (p.Cys627Ter) c.2001_2007del (p.Cys667Ter) c.2255_2261del c.1497_1503del (p.Cys499Ter) c.1878_1884del (p.Cys626Ter) c.1606+150_1606+156del (n.1606+150_1606+156del) c.582_588del c.1620_1626del (p.Cys540Ter) n.2011_2017del n.2118_2124del n.1978_1984del | ClinVar dbSNP |
| 19 | g.11120383del | CA16616200 | LDLR | c.2259del (p.Cys753TrpfsTer6) c.*70del (n.*70del) c.1881del (p.Cys627TrpfsTer6) c.2001del (p.Cys667TrpfsTer6) c.2255del c.1497del (p.Cys499TrpfsTer6) c.1878del (p.Cys626TrpfsTer6) c.1606+150del (n.1606+150del) c.582del c.1620del (p.Cys540TrpfsTer6) n.2011del n.2118del n.1978del | ClinVar dbSNP |
| 19 | g.11120383T>A | CA10585725 | LDLR | c.2259T>A (p.Cys753Ter) c.*70T>A (n.*70T>A) c.1881T>A (p.Cys627Ter) c.2001T>A (p.Cys667Ter) c.2255T>A c.1497T>A (p.Cys499Ter) c.1878T>A (p.Cys626Ter) c.1606+150T>A (n.1606+150T>A) c.582T>A c.1620T>A (p.Cys540Ter) n.2011T>A n.2118T>A n.1978T>A | ClinVar dbSNP |
| 19 | g.11120383T>C | CA505743452 | LDLR | c.2259T>C (p.Cys753=) c.*70T>C (n.*70T>C) c.1881T>C (p.Cys627=) c.2001T>C (p.Cys667=) c.2255T>C c.1497T>C (p.Cys499=) c.1878T>C (p.Cys626=) c.1606+150T>C (n.1606+150T>C) c.582T>C c.1620T>C (p.Cys540=) n.2011T>C n.2118T>C n.1978T>C | |
| 19 | g.11120383T>G | CA10585726 | LDLR | c.2259T>G (p.Cys753Trp) c.*70T>G (n.*70T>G) c.1881T>G (p.Cys627Trp) c.2001T>G (p.Cys667Trp) c.2255T>G c.1497T>G (p.Cys499Trp) c.1878T>G (p.Cys626Trp) c.1606+150T>G (n.1606+150T>G) c.582T>G c.1620T>G (p.Cys540Trp) n.2011T>G n.2118T>G n.1978T>G | ClinVar dbSNP |
| 19 | g.11120383T= | CA2322775541 | LDLR | c.2259T= (p.Cys753=) c.*70T= (n.*70T=) c.1881T= (p.Cys627=) c.2001T= (p.Cys667=) c.2255T= c.1497T= (p.Cys499=) c.1878T= (p.Cys626=) c.1606+150T= (n.1606+150T=) c.582T= c.1620T= (p.Cys540=) n.2011T= n.2118T= n.1978T= | |
| 19 | g.11120383_11120384delinsGT | CA2695195461 | LDLR | c.2259_2260delinsGT (p.Cys753TrpfsTer2) c.*70_*71delinsGT (n.*70_*71delinsGT) c.1881_1882delinsGT (p.Cys627TrpfsTer2) c.2001_2002delinsGT (p.Cys667TrpfsTer2) c.2255_2256delinsGT c.1497_1498delinsGT (p.Cys499TrpfsTer2) c.1878_1879delinsGT (p.Cys626TrpfsTer2) c.1606+150_1606+151delinsGT (n.1606+150_1606+151delinsGT) c.582_583delinsGT c.1620_1621delinsGT (p.Cys540TrpfsTer2) n.2011_2012delinsGT n.2118_2119delinsGT n.1978_1979delinsGT | |
| 19 | g.11120384G>A | CA404093454 | LDLR | c.2260G>A (p.Glu754Lys) c.*71G>A (n.*71G>A) c.1882G>A (p.Glu628Lys) c.2002G>A (p.Glu668Lys) c.2256G>A c.1498G>A (p.Glu500Lys) c.1879G>A (p.Glu627Lys) c.1606+151G>A (n.1606+151G>A) c.583G>A c.1621G>A (p.Glu541Lys) n.2012G>A n.2119G>A n.1979G>A | |
| 19 | g.11120384G>C | CA404093455 | LDLR | c.2260G>C (p.Glu754Gln) c.*71G>C (n.*71G>C) c.1882G>C (p.Glu628Gln) c.2002G>C (p.Glu668Gln) c.2256G>C c.1498G>C (p.Glu500Gln) c.1879G>C (p.Glu627Gln) c.1606+151G>C (n.1606+151G>C) c.583G>C c.1621G>C (p.Glu541Gln) n.2012G>C n.2119G>C n.1979G>C | |
| 19 | g.11120384G>T | CA404093457 | LDLR | c.2260G>T (p.Glu754Ter) c.*71G>T (n.*71G>T) c.1882G>T (p.Glu628Ter) c.2002G>T (p.Glu668Ter) c.2256G>T c.1498G>T (p.Glu500Ter) c.1879G>T (p.Glu627Ter) c.1606+151G>T (n.1606+151G>T) c.583G>T c.1621G>T (p.Glu541Ter) n.2012G>T n.2119G>T n.1979G>T | |
| 19 | g.11120385A>C | CA404093460 | LDLR | c.2261A>C (p.Glu754Ala) c.*72A>C (n.*72A>C) c.1883A>C (p.Glu628Ala) c.2003A>C (p.Glu668Ala) c.2257A>C c.1499A>C (p.Glu500Ala) c.1880A>C (p.Glu627Ala) c.1606+152A>C (n.1606+152A>C) c.584A>C c.1622A>C (p.Glu541Ala) n.2013A>C n.2120A>C n.1980A>C | |
| 19 | g.11120385A>G | CA404093461 | LDLR | c.2261A>G (p.Glu754Gly) c.*72A>G (n.*72A>G) c.1883A>G (p.Glu628Gly) c.2003A>G (p.Glu668Gly) c.2257A>G c.1499A>G (p.Glu500Gly) c.1880A>G (p.Glu627Gly) c.1606+152A>G (n.1606+152A>G) c.584A>G c.1622A>G (p.Glu541Gly) n.2013A>G n.2120A>G n.1980A>G | |
| 19 | g.11120385A>T | CA404093462 | LDLR | c.2261A>T (p.Glu754Val) c.*72A>T (n.*72A>T) c.1883A>T (p.Glu628Val) c.2003A>T (p.Glu668Val) c.2257A>T c.1499A>T (p.Glu500Val) c.1880A>T (p.Glu627Val) c.1606+152A>T (n.1606+152A>T) c.584A>T c.1622A>T (p.Glu541Val) n.2013A>T n.2120A>T n.1980A>T | |
| 19 | g.11120386del | CA2695228170 | LDLR | c.2262del (p.Arg755GlyfsTer4) c.*73del (n.*73del) c.1884del (p.Arg629GlyfsTer4) c.2004del (p.Arg669GlyfsTer4) c.2258del c.1500del (p.Arg501GlyfsTer4) c.1881del (p.Arg628GlyfsTer4) c.1606+153del (n.1606+153del) c.585del c.1623del (p.Arg542GlyfsTer4) n.2014del n.2121del n.1981del | |
| 19 | g.11120386G>A | CA505743454 | LDLR | c.2262G>A (p.Glu754=) c.*73G>A (n.*73G>A) c.1884G>A (p.Glu628=) c.2004G>A (p.Glu668=) c.2258G>A c.1500G>A (p.Glu500=) c.1881G>A (p.Glu627=) c.1606+153G>A (n.1606+153G>A) c.585G>A c.1623G>A (p.Glu541=) n.2014G>A n.2121G>A n.1981G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11120386G>C | CA404093464 | LDLR | c.2262G>C (p.Glu754Asp) c.*73G>C (n.*73G>C) c.1884G>C (p.Glu628Asp) c.2004G>C (p.Glu668Asp) c.2258G>C c.1500G>C (p.Glu500Asp) c.1881G>C (p.Glu627Asp) c.1606+153G>C (n.1606+153G>C) c.585G>C c.1623G>C (p.Glu541Asp) n.2014G>C n.2121G>C n.1981G>C | |
| 19 | g.11120386G= | CA2322775542 | LDLR | c.2262G= (p.Glu754=) c.*73G= (n.*73G=) c.1884G= (p.Glu628=) c.2004G= (p.Glu668=) c.2258G= c.1500G= (p.Glu500=) c.1881G= (p.Glu627=) c.1606+153G= (n.1606+153G=) c.585G= c.1623G= (p.Glu541=) n.2014G= n.2121G= n.1981G= | |
| 19 | g.11120386G>T | CA404093465 | LDLR | c.2262G>T (p.Glu754Asp) c.*73G>T (n.*73G>T) c.1884G>T (p.Glu628Asp) c.2004G>T (p.Glu668Asp) c.2258G>T c.1500G>T (p.Glu500Asp) c.1881G>T (p.Glu627Asp) c.1606+153G>T (n.1606+153G>T) c.585G>T c.1623G>T (p.Glu541Asp) n.2014G>T n.2121G>T n.1981G>T | gnomAD v4 |
| 19 | g.11120387A>C | CA505743456 | LDLR | c.2263A>C (p.Arg755=) c.*74A>C (n.*74A>C) c.1885A>C (p.Arg629=) c.2005A>C (p.Arg669=) c.2259A>C c.1501A>C (p.Arg501=) c.1882A>C (p.Arg628=) c.1606+154A>C (n.1606+154A>C) c.586A>C c.1624A>C (p.Arg542=) n.2015A>C n.2122A>C n.1982A>C |