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 |
|---|---|---|---|---|---|
| 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.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.11120503_11120510dup | CA2580096712 | LDLR | c.2379_2386dup (p.Ser796ThrfsTer2) c.*190_*197dup (n.*190_*197dup) c.2001_2008dup (p.Ser670ThrfsTer2) c.2121_2128dup (p.Ser710ThrfsTer2) c.2375_2382dup c.1617_1624dup (p.Ser542ThrfsTer2) c.1998_2005dup (p.Ser669ThrfsTer2) c.1606+270_1606+277dup (n.1606+270_1606+277dup) c.1740_1747dup (p.Ser583ThrfsTer2) n.2131_2138dup n.2238_2245dup n.2098_2105dup | ClinVar |
| 19 | g.11120505T>A | CA404093963 | LDLR | c.2381T>A (p.Met794Lys) c.*192T>A (n.*192T>A) c.2003T>A (p.Met668Lys) c.2123T>A (p.Met708Lys) c.2377T>A c.1619T>A (p.Met540Lys) c.2000T>A (p.Met667Lys) c.1606+272T>A (n.1606+272T>A) c.1742T>A (p.Met581Lys) n.2133T>A n.2240T>A n.2100T>A | |
| 19 | g.11120505T>C | CA038668 | LDLR | c.2381T>C (p.Met794Thr) c.*192T>C (n.*192T>C) c.2003T>C (p.Met668Thr) c.2123T>C (p.Met708Thr) c.2377T>C c.1619T>C (p.Met540Thr) c.2000T>C (p.Met667Thr) c.1606+272T>C (n.1606+272T>C) c.1742T>C (p.Met581Thr) n.2133T>C n.2240T>C n.2100T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11120505T>G | CA038677 | LDLR | c.2381T>G (p.Met794Arg) c.*192T>G (n.*192T>G) c.2003T>G (p.Met668Arg) c.2123T>G (p.Met708Arg) c.2377T>G c.1619T>G (p.Met540Arg) c.2000T>G (p.Met667Arg) c.1606+272T>G (n.1606+272T>G) c.1742T>G (p.Met581Arg) n.2133T>G n.2240T>G n.2100T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11120505T= | CA2322775650 | LDLR | c.2381T= (p.Met794=) c.*192T= (n.*192T=) c.2003T= (p.Met668=) c.2123T= (p.Met708=) c.2377T= c.1619T= (p.Met540=) c.2000T= (p.Met667=) c.1606+272T= (n.1606+272T=) c.1742T= (p.Met581=) n.2133T= n.2240T= n.2100T= | |
| 19 | g.11120505_11120508delinsTGAG | CA2322775651 | LDLR | c.2381_2384delinsTGAG (p.Met794=) c.*192_*195delinsTGAG (n.*192_*195delinsTGAG) c.2003_2006delinsTGAG (p.Met668=) c.2123_2126delinsTGAG (p.Met708=) c.2377_2380delinsTGAG c.1619_1622delinsTGAG (p.Met540=) c.2000_2003delinsTGAG (p.Met667=) c.1606+272_1606+275delinsTGAG (n.1606+272_1606+275delinsTGAG) c.1742_1745delinsTGAG (p.Met581=) n.2133_2136delinsTGAG n.2240_2243delinsTGAG n.2100_2103delinsTGAG | |
| 19 | g.11120506G>A | CA038694 | LDLR | c.2382G>A (p.Met794Ile) c.*193G>A (n.*193G>A) c.2004G>A (p.Met668Ile) c.2124G>A (p.Met708Ile) c.2378G>A c.1620G>A (p.Met540Ile) c.2001G>A (p.Met667Ile) c.1606+273G>A (n.1606+273G>A) c.1743G>A (p.Met581Ile) n.2134G>A n.2241G>A n.2101G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11120506G>C | CA404093964 | LDLR | c.2382G>C (p.Met794Ile) c.*193G>C (n.*193G>C) c.2004G>C (p.Met668Ile) c.2124G>C (p.Met708Ile) c.2378G>C c.1620G>C (p.Met540Ile) c.2001G>C (p.Met667Ile) c.1606+273G>C (n.1606+273G>C) c.1743G>C (p.Met581Ile) n.2134G>C n.2241G>C n.2101G>C | |
| 19 | g.11120506G= | CA2322775652 | LDLR | c.2382G= (p.Met794=) c.*193G= (n.*193G=) c.2004G= (p.Met668=) c.2124G= (p.Met708=) c.2378G= c.1620G= (p.Met540=) c.2001G= (p.Met667=) c.1606+273G= (n.1606+273G=) c.1743G= (p.Met581=) n.2134G= n.2241G= n.2101G= | |
| 19 | g.11120506G>T | CA404093965 | LDLR | c.2382G>T (p.Met794Ile) c.*193G>T (n.*193G>T) c.2004G>T (p.Met668Ile) c.2124G>T (p.Met708Ile) c.2378G>T c.1620G>T (p.Met540Ile) c.2001G>T (p.Met667Ile) c.1606+273G>T (n.1606+273G>T) c.1743G>T (p.Met581Ile) n.2134G>T n.2241G>T n.2101G>T | |
| 19 | g.11120509_11120511del | CA1139666245 | LDLR | c.2385_2387del (p.Arg795del) c.*196_*198del (n.*196_*198del) c.2007_2009del (p.Arg669del) c.2127_2129del (p.Arg709del) c.2381_2383del c.1623_1625del (p.Arg541del) c.2004_2006del (p.Arg668del) c.1606+276_1606+278del (n.1606+276_1606+278del) c.1746_1748del (p.Arg582del) n.2137_2139del n.2244_2246del n.2104_2106del | ClinVar dbSNP gnomAD v4 |
| 19 | g.11120507A= | CA2322775653 | LDLR | c.2383A= (p.Arg795=) c.*194A= (n.*194A=) c.2005A= (p.Arg669=) c.2125A= (p.Arg709=) c.2379A= c.1621A= (p.Arg541=) c.2002A= (p.Arg668=) c.1606+274A= (n.1606+274A=) c.1744A= (p.Arg582=) n.2135A= n.2242A= n.2102A= | |
| 19 | g.11120507A>C | CA505486644 | LDLR | c.2383A>C (p.Arg795=) c.*194A>C (n.*194A>C) c.2005A>C (p.Arg669=) c.2125A>C (p.Arg709=) c.2379A>C c.1621A>C (p.Arg541=) c.2002A>C (p.Arg668=) c.1606+274A>C (n.1606+274A>C) c.1744A>C (p.Arg582=) n.2135A>C n.2242A>C n.2102A>C | |
| 19 | g.11120507A>G | CA16602347 | LDLR | c.2383A>G (p.Arg795Gly) c.*194A>G (n.*194A>G) c.2005A>G (p.Arg669Gly) c.2125A>G (p.Arg709Gly) c.2379A>G c.1621A>G (p.Arg541Gly) c.2002A>G (p.Arg668Gly) c.1606+274A>G (n.1606+274A>G) c.1744A>G (p.Arg582Gly) n.2135A>G n.2242A>G n.2102A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.11120507A>T | CA404093966 | LDLR | c.2383A>T (p.Arg795Trp) c.*194A>T (n.*194A>T) c.2005A>T (p.Arg669Trp) c.2125A>T (p.Arg709Trp) c.2379A>T c.1621A>T (p.Arg541Trp) c.2002A>T (p.Arg668Trp) c.1606+274A>T (n.1606+274A>T) c.1744A>T (p.Arg582Trp) n.2135A>T n.2242A>T n.2102A>T | |
| 19 | g.11120508G>A | CA023641 | LDLR | c.2384G>A (p.Arg795Lys) c.*195G>A (n.*195G>A) c.2006G>A (p.Arg669Lys) c.2126G>A (p.Arg709Lys) c.2380G>A c.1622G>A (p.Arg541Lys) c.2003G>A (p.Arg668Lys) c.1606+275G>A (n.1606+275G>A) c.1745G>A (p.Arg582Lys) n.2136G>A n.2243G>A n.2103G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11120508G>C | CA404093967 | LDLR | c.2384G>C (p.Arg795Thr) c.*195G>C (n.*195G>C) c.2006G>C (p.Arg669Thr) c.2126G>C (p.Arg709Thr) c.2380G>C c.1622G>C (p.Arg541Thr) c.2003G>C (p.Arg668Thr) c.1606+275G>C (n.1606+275G>C) c.1745G>C (p.Arg582Thr) n.2136G>C n.2243G>C n.2103G>C | COSMIC |
| 19 | g.11120508G= | CA2322775654 | LDLR | c.2384G= (p.Arg795=) c.*195G= (n.*195G=) c.2006G= (p.Arg669=) c.2126G= (p.Arg709=) c.2380G= c.1622G= (p.Arg541=) c.2003G= (p.Arg668=) c.1606+275G= (n.1606+275G=) c.1745G= (p.Arg582=) n.2136G= n.2243G= n.2103G= | |
| 19 | g.11120508G>T | CA404093968 | LDLR | c.2384G>T (p.Arg795Met) c.*195G>T (n.*195G>T) c.2006G>T (p.Arg669Met) c.2126G>T (p.Arg709Met) c.2380G>T c.1622G>T (p.Arg541Met) c.2003G>T (p.Arg668Met) c.1606+275G>T (n.1606+275G>T) c.1745G>T (p.Arg582Met) n.2136G>T n.2243G>T n.2103G>T | |
| 19 | g.11120509G>A | CA038722 | LDLR | c.2385G>A (p.Arg795=) c.*196G>A (n.*196G>A) c.2007G>A (p.Arg669=) c.2127G>A (p.Arg709=) c.2381G>A c.1623G>A (p.Arg541=) c.2004G>A (p.Arg668=) c.1606+276G>A (n.1606+276G>A) c.1746G>A (p.Arg582=) n.2137G>A n.2244G>A n.2104G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11120509G>C | CA404093969 | LDLR | c.2385G>C (p.Arg795Ser) c.*196G>C (n.*196G>C) c.2007G>C (p.Arg669Ser) c.2127G>C (p.Arg709Ser) c.2381G>C c.1623G>C (p.Arg541Ser) c.2004G>C (p.Arg668Ser) c.1606+276G>C (n.1606+276G>C) c.1746G>C (p.Arg582Ser) n.2137G>C n.2244G>C n.2104G>C | |
| 19 | g.11120509G= | CA2322775655 | LDLR | c.2385G= (p.Arg795=) c.*196G= (n.*196G=) c.2007G= (p.Arg669=) c.2127G= (p.Arg709=) c.2381G= c.1623G= (p.Arg541=) c.2004G= (p.Arg668=) c.1606+276G= (n.1606+276G=) c.1746G= (p.Arg582=) n.2137G= n.2244G= n.2104G= | |
| 19 | g.11120509G>T | CA404093970 | LDLR | c.2385G>T (p.Arg795Ser) c.*196G>T (n.*196G>T) c.2007G>T (p.Arg669Ser) c.2127G>T (p.Arg709Ser) c.2381G>T c.1623G>T (p.Arg541Ser) c.2004G>T (p.Arg668Ser) c.1606+276G>T (n.1606+276G>T) c.1746G>T (p.Arg582Ser) n.2137G>T n.2244G>T n.2104G>T | |
| 19 | g.11120509_11120510delinsCT | CA2573156035 | LDLR | c.2385_2386delinsCT (p.Arg795_Ser796delinsSerCys) c.*196_*197delinsCT (n.*196_*197delinsCT) c.2007_2008delinsCT (p.Arg669_Ser670delinsSerCys) c.2127_2128delinsCT (p.Arg709_Ser710delinsSerCys) c.2381_2382delinsCT c.1623_1624delinsCT (p.Arg541_Ser542delinsSerCys) c.2004_2005delinsCT (p.Arg668_Ser669delinsSerCys) c.1606+276_1606+277delinsCT (n.1606+276_1606+277delinsCT) c.1746_1747delinsCT (p.Arg582_Ser583delinsSerCys) n.2137_2138delinsCT n.2244_2245delinsCT n.2104_2105delinsCT | ClinVar dbSNP |
| 19 | g.11120510A= | CA2322775656 | LDLR | c.2386A= (p.Ser796=) c.*197A= (n.*197A=) c.2008A= (p.Ser670=) c.2128A= (p.Ser710=) c.2382A= c.1624A= (p.Ser542=) c.2005A= (p.Ser669=) c.1606+277A= (n.1606+277A=) c.1747A= (p.Ser583=) n.2138A= n.2245A= n.2105A= | |
| 19 | g.11120510A>C | CA404093973 | LDLR | c.2386A>C (p.Ser796Arg) c.*197A>C (n.*197A>C) c.2008A>C (p.Ser670Arg) c.2128A>C (p.Ser710Arg) c.2382A>C c.1624A>C (p.Ser542Arg) c.2005A>C (p.Ser669Arg) c.1606+277A>C (n.1606+277A>C) c.1747A>C (p.Ser583Arg) n.2138A>C n.2245A>C n.2105A>C | |
| 19 | g.11120510A>G | CA404093972 | LDLR | c.2386A>G (p.Ser796Gly) c.*197A>G (n.*197A>G) c.2008A>G (p.Ser670Gly) c.2128A>G (p.Ser710Gly) c.2382A>G c.1624A>G (p.Ser542Gly) c.2005A>G (p.Ser669Gly) c.1606+277A>G (n.1606+277A>G) c.1747A>G (p.Ser583Gly) n.2138A>G n.2245A>G n.2105A>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11120510A>T | CA404093971 | LDLR | c.2386A>T (p.Ser796Cys) c.*197A>T (n.*197A>T) c.2008A>T (p.Ser670Cys) c.2128A>T (p.Ser710Cys) c.2382A>T c.1624A>T (p.Ser542Cys) c.2005A>T (p.Ser669Cys) c.1606+277A>T (n.1606+277A>T) c.1747A>T (p.Ser583Cys) n.2138A>T n.2245A>T n.2105A>T | |
| 19 | g.11120510_11120513dup | CA2573156036 | LDLR | c.2386_2389dup (p.Cys797Ter) c.*197_*200dup (n.*197_*200dup) c.2008_2011dup (p.Cys671Ter) c.2128_2131dup (p.Cys711Ter) c.2382_2385dup c.1624_1627dup (p.Cys543Ter) c.2005_2008dup (p.Cys670Ter) c.1606+277_1606+280dup (n.1606+277_1606+280dup) c.1747_1750dup (p.Cys584Ter) n.2138_2141dup n.2245_2248dup n.2105_2108dup | ClinVar dbSNP |
| 19 | g.11120511G>A | CA404093974 | LDLR | c.2387G>A (p.Ser796Asn) c.*198G>A (n.*198G>A) c.2009G>A (p.Ser670Asn) c.2129G>A (p.Ser710Asn) c.2383G>A c.1625G>A (p.Ser542Asn) c.2006G>A (p.Ser669Asn) c.1606+278G>A (n.1606+278G>A) c.1748G>A (p.Ser583Asn) n.2139G>A n.2246G>A n.2106G>A | dbSNP gnomAD v4 |
| 19 | g.11120511G>C | CA404093976 | LDLR | c.2387G>C (p.Ser796Thr) c.*198G>C (n.*198G>C) c.2009G>C (p.Ser670Thr) c.2129G>C (p.Ser710Thr) c.2383G>C c.1625G>C (p.Ser542Thr) c.2006G>C (p.Ser669Thr) c.1606+278G>C (n.1606+278G>C) c.1748G>C (p.Ser583Thr) n.2139G>C n.2246G>C n.2106G>C | |
| 19 | g.11120511G>T | CA404093975 | LDLR | c.2387G>T (p.Ser796Ile) c.*198G>T (n.*198G>T) c.2009G>T (p.Ser670Ile) c.2129G>T (p.Ser710Ile) c.2383G>T c.1625G>T (p.Ser542Ile) c.2006G>T (p.Ser669Ile) c.1606+278G>T (n.1606+278G>T) c.1748G>T (p.Ser583Ile) n.2139G>T n.2246G>T n.2106G>T | |
| 19 | g.11120512C>A | CA404093977 | LDLR | c.2388C>A (p.Ser796Arg) c.*199C>A (n.*199C>A) c.2010C>A (p.Ser670Arg) c.2130C>A (p.Ser710Arg) c.2384C>A c.1626C>A (p.Ser542Arg) c.2007C>A (p.Ser669Arg) c.1606+279C>A (n.1606+279C>A) c.1749C>A (p.Ser583Arg) n.2140C>A n.2247C>A n.2107C>A | gnomAD v4 |
| 19 | g.11120512C>G | CA404093978 | LDLR | c.2388C>G (p.Ser796Arg) c.*199C>G (n.*199C>G) c.2010C>G (p.Ser670Arg) c.2130C>G (p.Ser710Arg) c.2384C>G c.1626C>G (p.Ser542Arg) c.2007C>G (p.Ser669Arg) c.1606+279C>G (n.1606+279C>G) c.1749C>G (p.Ser583Arg) n.2140C>G n.2247C>G n.2107C>G | |
| 19 | g.11120512C>T | CA505486651 | LDLR | c.2388C>T (p.Ser796=) c.*199C>T (n.*199C>T) c.2010C>T (p.Ser670=) c.2130C>T (p.Ser710=) c.2384C>T c.1626C>T (p.Ser542=) c.2007C>T (p.Ser669=) c.1606+279C>T (n.1606+279C>T) c.1749C>T (p.Ser583=) n.2140C>T n.2247C>T n.2107C>T | COSMIC |
| 19 | g.11120513T>A | CA10585781 | LDLR | c.2389T>A (p.Cys797Ser) c.*200T>A (n.*200T>A) c.2011T>A (p.Cys671Ser) c.2131T>A (p.Cys711Ser) c.2385T>A c.1627T>A (p.Cys543Ser) c.2008T>A (p.Cys670Ser) c.1606+280T>A (n.1606+280T>A) c.1750T>A (p.Cys584Ser) n.2141T>A n.2248T>A n.2108T>A | ClinVar dbSNP |
| 19 | g.11120513T>C | CA404093979 | LDLR | c.2389T>C (p.Cys797Arg) c.*200T>C (n.*200T>C) c.2011T>C (p.Cys671Arg) c.2131T>C (p.Cys711Arg) c.2385T>C c.1627T>C (p.Cys543Arg) c.2008T>C (p.Cys670Arg) c.1606+280T>C (n.1606+280T>C) c.1750T>C (p.Cys584Arg) n.2141T>C n.2248T>C n.2108T>C | ClinVar dbSNP |
| 19 | g.11120513T>G | CA404093980 | LDLR | c.2389T>G (p.Cys797Gly) c.*200T>G (n.*200T>G) c.2011T>G (p.Cys671Gly) c.2131T>G (p.Cys711Gly) c.2385T>G c.1627T>G (p.Cys543Gly) c.2008T>G (p.Cys670Gly) c.1606+280T>G (n.1606+280T>G) c.1750T>G (p.Cys584Gly) n.2141T>G n.2248T>G n.2108T>G | ClinVar dbSNP |
| 19 | g.11120513T= | CA2322775657 | LDLR | c.2389T= (p.Cys797=) c.*200T= (n.*200T=) c.2011T= (p.Cys671=) c.2131T= (p.Cys711=) c.2385T= c.1627T= (p.Cys543=) c.2008T= (p.Cys670=) c.1606+280T= (n.1606+280T=) c.1750T= (p.Cys584=) n.2141T= n.2248T= n.2108T= |