| 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.11120496_11120502delinsG | CA2580096711 | LDLR | c.2372_2378delinsG (p.Ala791_Asp793delinsGly) c.*183_*189delinsG (n.*183_*189delinsG) c.1994_2000delinsG (p.Ala665_Asp667delinsGly) c.2114_2120delinsG (p.Ala705_Asp707delinsGly) c.2368_2374delinsG c.1610_1616delinsG (p.Ala537_Asp539delinsGly) c.1991_1997delinsG (p.Ala664_Asp666delinsGly) c.1606+263_1606+269delinsG (n.1606+263_1606+269delinsG) c.1733_1739delinsG (p.Ala578_Asp580delinsGly) n.2124_2130delinsG n.2231_2237delinsG n.2091_2097delinsG | ClinVar |
| 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.11120501G>A | CA10585778 | LDLR | c.2377G>A (p.Asp793Asn) c.*188G>A (n.*188G>A) c.1999G>A (p.Asp667Asn) c.2119G>A (p.Asp707Asn) c.2373G>A c.1615G>A (p.Asp539Asn) c.1996G>A (p.Asp666Asn) c.1606+268G>A (n.1606+268G>A) c.1738G>A (p.Asp580Asn) n.2129G>A n.2236G>A n.2096G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11120501G>C | CA404093955 | LDLR | c.2377G>C (p.Asp793His) c.*188G>C (n.*188G>C) c.1999G>C (p.Asp667His) c.2119G>C (p.Asp707His) c.2373G>C c.1615G>C (p.Asp539His) c.1996G>C (p.Asp666His) c.1606+268G>C (n.1606+268G>C) c.1738G>C (p.Asp580His) n.2129G>C n.2236G>C n.2096G>C | gnomAD v4 |
| 19 | g.11120501G= | CA2322775648 | LDLR | c.2377G= (p.Asp793=) c.*188G= (n.*188G=) c.1999G= (p.Asp667=) c.2119G= (p.Asp707=) c.2373G= c.1615G= (p.Asp539=) c.1996G= (p.Asp666=) c.1606+268G= (n.1606+268G=) c.1738G= (p.Asp580=) n.2129G= n.2236G= n.2096G= | |
| 19 | g.11120501G>T | CA10585779 | LDLR | c.2377G>T (p.Asp793Tyr) c.*188G>T (n.*188G>T) c.1999G>T (p.Asp667Tyr) c.2119G>T (p.Asp707Tyr) c.2373G>T c.1615G>T (p.Asp539Tyr) c.1996G>T (p.Asp666Tyr) c.1606+268G>T (n.1606+268G>T) c.1738G>T (p.Asp580Tyr) n.2129G>T n.2236G>T n.2096G>T | ClinVar dbSNP |
| 19 | g.11120502A= | CA2322775649 | LDLR | c.2378A= (p.Asp793=) c.*189A= (n.*189A=) c.2000A= (p.Asp667=) c.2120A= (p.Asp707=) c.2374A= c.1616A= (p.Asp539=) c.1997A= (p.Asp666=) c.1606+269A= (n.1606+269A=) c.1739A= (p.Asp580=) n.2130A= n.2237A= n.2097A= | |
| 19 | g.11120502A>C | CA404093956 | LDLR | c.2378A>C (p.Asp793Ala) c.*189A>C (n.*189A>C) c.2000A>C (p.Asp667Ala) c.2120A>C (p.Asp707Ala) c.2374A>C c.1616A>C (p.Asp539Ala) c.1997A>C (p.Asp666Ala) c.1606+269A>C (n.1606+269A>C) c.1739A>C (p.Asp580Ala) n.2130A>C n.2237A>C n.2097A>C | |
| 19 | g.11120502A>G | CA404093957 | LDLR | c.2378A>G (p.Asp793Gly) c.*189A>G (n.*189A>G) c.2000A>G (p.Asp667Gly) c.2120A>G (p.Asp707Gly) c.2374A>G c.1616A>G (p.Asp539Gly) c.1997A>G (p.Asp666Gly) c.1606+269A>G (n.1606+269A>G) c.1739A>G (p.Asp580Gly) n.2130A>G n.2237A>G n.2097A>G | |
| 19 | g.11120502A>T | CA10585780 | LDLR | c.2378A>T (p.Asp793Val) c.*189A>T (n.*189A>T) c.2000A>T (p.Asp667Val) c.2120A>T (p.Asp707Val) c.2374A>T c.1616A>T (p.Asp539Val) c.1997A>T (p.Asp666Val) c.1606+269A>T (n.1606+269A>T) c.1739A>T (p.Asp580Val) n.2130A>T n.2237A>T n.2097A>T | ClinVar dbSNP |
| 19 | g.11120503del | CA2695238667 | LDLR | c.2379del (p.Asp793GlufsTer2) c.*190del (n.*190del) c.2001del (p.Asp667GlufsTer2) c.2121del (p.Asp707GlufsTer2) c.2375del c.1617del (p.Asp539GlufsTer2) c.1998del (p.Asp666GlufsTer2) c.1606+270del (n.1606+270del) c.1740del (p.Asp580GlufsTer2) n.2131del n.2238del n.2098del | |
| 19 | g.11120503C>A | CA404093958 | LDLR | c.2379C>A (p.Asp793Glu) c.*190C>A (n.*190C>A) c.2001C>A (p.Asp667Glu) c.2121C>A (p.Asp707Glu) c.2375C>A c.1617C>A (p.Asp539Glu) c.1998C>A (p.Asp666Glu) c.1606+270C>A (n.1606+270C>A) c.1740C>A (p.Asp580Glu) n.2131C>A n.2238C>A n.2098C>A | |
| 19 | g.11120503C>G | CA404093959 | LDLR | c.2379C>G (p.Asp793Glu) c.*190C>G (n.*190C>G) c.2001C>G (p.Asp667Glu) c.2121C>G (p.Asp707Glu) c.2375C>G c.1617C>G (p.Asp539Glu) c.1998C>G (p.Asp666Glu) c.1606+270C>G (n.1606+270C>G) c.1740C>G (p.Asp580Glu) n.2131C>G n.2238C>G n.2098C>G | gnomAD v4 |
| 19 | g.11120503C>T | CA505486642 | LDLR | c.2379C>T (p.Asp793=) c.*190C>T (n.*190C>T) c.2001C>T (p.Asp667=) c.2121C>T (p.Asp707=) c.2375C>T c.1617C>T (p.Asp539=) c.1998C>T (p.Asp666=) c.1606+270C>T (n.1606+270C>T) c.1740C>T (p.Asp580=) n.2131C>T n.2238C>T n.2098C>T | gnomAD v4 |
| 19 | g.11120504A>C | CA404093960 | LDLR | c.2380A>C (p.Met794Leu) c.*191A>C (n.*191A>C) c.2002A>C (p.Met668Leu) c.2122A>C (p.Met708Leu) c.2376A>C c.1618A>C (p.Met540Leu) c.1999A>C (p.Met667Leu) c.1606+271A>C (n.1606+271A>C) c.1741A>C (p.Met581Leu) n.2132A>C n.2239A>C n.2099A>C | |
| 19 | g.11120504A>G | CA404093961 | LDLR | c.2380A>G (p.Met794Val) c.*191A>G (n.*191A>G) c.2002A>G (p.Met668Val) c.2122A>G (p.Met708Val) c.2376A>G c.1618A>G (p.Met540Val) c.1999A>G (p.Met667Val) c.1606+271A>G (n.1606+271A>G) c.1741A>G (p.Met581Val) n.2132A>G n.2239A>G n.2099A>G | gnomAD v4 |
| 19 | g.11120504A>T | CA404093962 | LDLR | c.2380A>T (p.Met794Leu) c.*191A>T (n.*191A>T) c.2002A>T (p.Met668Leu) c.2122A>T (p.Met708Leu) c.2376A>T c.1618A>T (p.Met540Leu) c.1999A>T (p.Met667Leu) c.1606+271A>T (n.1606+271A>T) c.1741A>T (p.Met581Leu) n.2132A>T n.2239A>T n.2099A>T | |
| 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 |