| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.11120431_11120445delinsTGCCCCGCAGATCAA | CA2322775581 | LDLR | c.2307_2321delinsTGCCCCGCAGATCAA (p.Pro769=) c.*118_*132delinsTGCCCCGCAGATCAA (n.*118_*132delinsTGCCCCGCAGATCAA) c.1929_1943delinsTGCCCCGCAGATCAA (p.Pro643=) c.2049_2063delinsTGCCCCGCAGATCAA (p.Pro683=) c.2303_2317delinsTGCCCCGCAGATCAA c.1545_1559delinsTGCCCCGCAGATCAA (p.Pro515=) c.1926_1940delinsTGCCCCGCAGATCAA (p.Pro642=) c.1606+198_1606+212delinsTGCCCCGCAGATCAA (n.1606+198_1606+212delinsTGCCCCGCAGATCAA) c.1668_1682delinsTGCCCCGCAGATCAA (p.Pro556=) n.2059_2073delinsTGCCCCGCAGATCAA n.2166_2180delinsTGCCCCGCAGATCAA n.2026_2040delinsTGCCCCGCAGATCAA | |
| 19 | g.11120434_11120438del | CA3055672707 | LDLR | c.2310_2314del (p.Pro771AspfsTer?) c.*121_*125del (n.*121_*125del) c.1932_1936del (p.Pro645AspfsTer?) c.2052_2056del (p.Pro685AspfsTer?) c.2306_2310del c.1548_1552del (p.Pro517AspfsTer?) c.1929_1933del (p.Pro644AspfsTer?) c.1606+201_1606+205del (n.1606+201_1606+205del) c.1671_1675del (p.Pro558AspfsTer?) n.2062_2066del n.2169_2173del n.2029_2033del | |
| 19 | g.11120432_11120445del | CA10585746 | LDLR | c.2308_2321del (p.Ala770ProfsTer28) c.*119_*132del (n.*119_*132del) c.1930_1943del (p.Ala644ProfsTer28) c.2050_2063del (p.Ala684ProfsTer28) c.2304_2317del c.1546_1559del (p.Ala516ProfsTer28) c.1927_1940del (p.Ala643ProfsTer28) c.1606+199_1606+212del (n.1606+199_1606+212del) c.1669_1682del (p.Ala557ProfsTer28) n.2060_2073del n.2167_2180del n.2027_2040del | ClinVar dbSNP |
| 19 | g.11120432_11120445delinsC | CA645509288 | LDLR | c.2308_2321delinsC (p.Ala770ProfsTer21) c.*119_*132delinsC (n.*119_*132delinsC) c.1930_1943delinsC (p.Ala644ProfsTer21) c.2050_2063delinsC (p.Ala684ProfsTer21) c.2304_2317delinsC c.1546_1559delinsC (p.Ala516ProfsTer21) c.1927_1940delinsC (p.Ala643ProfsTer21) c.1606+199_1606+212delinsC (n.1606+199_1606+212delinsC) c.1669_1682delinsC (p.Ala557ProfsTer21) n.2060_2073delinsC n.2167_2180delinsC n.2027_2040delinsC | ClinVar dbSNP |
| 19 | g.11120432_11120445delinsGCCCCGCAGATCAA | CA2322775585 | LDLR | c.2308_2321delinsGCCCCGCAGATCAA (p.Ala770=) c.*119_*132delinsGCCCCGCAGATCAA (n.*119_*132delinsGCCCCGCAGATCAA) c.1930_1943delinsGCCCCGCAGATCAA (p.Ala644=) c.2050_2063delinsGCCCCGCAGATCAA (p.Ala684=) c.2304_2317delinsGCCCCGCAGATCAA c.1546_1559delinsGCCCCGCAGATCAA (p.Ala516=) c.1927_1940delinsGCCCCGCAGATCAA (p.Ala643=) c.1606+199_1606+212delinsGCCCCGCAGATCAA (n.1606+199_1606+212delinsGCCCCGCAGATCAA) c.1669_1682delinsGCCCCGCAGATCAA (p.Ala557=) n.2060_2073delinsGCCCCGCAGATCAA n.2167_2180delinsGCCCCGCAGATCAA n.2027_2040delinsGCCCCGCAGATCAA | |
| 19 | g.11120432_11120446delinsGCCCCGCAGATCAAC | CA2322775584 | LDLR | c.2308_2322delinsGCCCCGCAGATCAAC (p.Ala770=) c.*119_*133delinsGCCCCGCAGATCAAC (n.*119_*133delinsGCCCCGCAGATCAAC) c.1930_1944delinsGCCCCGCAGATCAAC (p.Ala644=) c.2050_2064delinsGCCCCGCAGATCAAC (p.Ala684=) c.2304_2318delinsGCCCCGCAGATCAAC c.1546_1560delinsGCCCCGCAGATCAAC (p.Ala516=) c.1927_1941delinsGCCCCGCAGATCAAC (p.Ala643=) c.1606+199_1606+213delinsGCCCCGCAGATCAAC (n.1606+199_1606+213delinsGCCCCGCAGATCAAC) c.1669_1683delinsGCCCCGCAGATCAAC (p.Ala557=) n.2060_2074delinsGCCCCGCAGATCAAC n.2167_2181delinsGCCCCGCAGATCAAC n.2027_2041delinsGCCCCGCAGATCAAC | |
| 19 | g.11120436dup | CA2497030099 | LDLR | c.2312dup (p.Gln772AlafsTer?) c.*123dup (n.*123dup) c.1934dup (p.Gln646AlafsTer?) c.2054dup (p.Gln686AlafsTer?) c.2308dup c.1550dup (p.Gln518AlafsTer?) c.1931dup (p.Gln645AlafsTer?) c.1606+203dup (n.1606+203dup) c.1673dup (p.Gln559AlafsTer?) n.2064dup n.2171dup n.2031dup | ClinVar |
| 19 | g.11120436del | CA10585749 | LDLR | c.2312del (p.Pro771ArgfsTer24) c.*123del (n.*123del) c.1934del (p.Pro645ArgfsTer24) c.2054del (p.Pro685ArgfsTer24) c.2308del c.1550del (p.Pro517ArgfsTer24) c.1931del (p.Pro644ArgfsTer24) c.1606+203del (n.1606+203del) c.1673del (p.Pro558ArgfsTer24) n.2064del n.2171del n.2031del | ClinVar dbSNP |
| 19 | g.11120437_11120449del | CA10585750 | LDLR | c.2313_2325del (p.Gln772ThrfsTer19) c.*124_*136del (n.*124_*136del) c.1935_1947del (p.Gln646ThrfsTer19) c.2055_2067del (p.Gln686ThrfsTer19) c.2309_2321del c.1551_1563del (p.Gln518ThrfsTer19) c.1932_1944del (p.Gln645ThrfsTer19) c.1606+204_1606+216del (n.1606+204_1606+216del) c.1674_1686del (p.Gln559ThrfsTer19) n.2065_2077del n.2172_2184del n.2032_2044del | ClinVar dbSNP |
| 19 | g.11120437_11120450del | CA1139666277 | LDLR | c.2313_2326del (p.Gln772LeufsTer26) c.*124_*137del (n.*124_*137del) c.1935_1948del (p.Gln646LeufsTer26) c.2055_2068del (p.Gln686LeufsTer26) c.2309_2322del c.1551_1564del (p.Gln518LeufsTer26) c.1932_1945del (p.Gln645LeufsTer26) c.1606+204_1606+217del (n.1606+204_1606+217del) c.1674_1687del (p.Gln559LeufsTer26) n.2065_2078del n.2172_2185del n.2032_2045del | ClinVar dbSNP |
| 19 | g.11120436C>A | CA404093679 | LDLR | c.2312C>A (p.Pro771Gln) c.*123C>A (n.*123C>A) c.1934C>A (p.Pro645Gln) c.2054C>A (p.Pro685Gln) c.2308C>A c.1550C>A (p.Pro517Gln) c.1931C>A (p.Pro644Gln) c.1606+203C>A (n.1606+203C>A) c.1673C>A (p.Pro558Gln) n.2064C>A n.2171C>A n.2031C>A | ClinVar dbSNP |
| 19 | g.11120436C= | CA2322775592 | LDLR | c.2312C= (p.Pro771=) c.*123C= (n.*123C=) c.1934C= (p.Pro645=) c.2054C= (p.Pro685=) c.2308C= c.1550C= (p.Pro517=) c.1931C= (p.Pro644=) c.1606+203C= (n.1606+203C=) c.1673C= (p.Pro558=) n.2064C= n.2171C= n.2031C= | |
| 19 | g.11120436C>G | CA404093683 | LDLR | c.2312C>G (p.Pro771Arg) c.*123C>G (n.*123C>G) c.1934C>G (p.Pro645Arg) c.2054C>G (p.Pro685Arg) c.2308C>G c.1550C>G (p.Pro517Arg) c.1931C>G (p.Pro644Arg) c.1606+203C>G (n.1606+203C>G) c.1673C>G (p.Pro558Arg) n.2064C>G n.2171C>G n.2031C>G | ClinVar |
| 19 | g.11120436C>T | CA023628 | LDLR | c.2312C>T (p.Pro771Leu) c.*123C>T (n.*123C>T) c.1934C>T (p.Pro645Leu) c.2054C>T (p.Pro685Leu) c.2308C>T c.1550C>T (p.Pro517Leu) c.1931C>T (p.Pro644Leu) c.1606+203C>T (n.1606+203C>T) c.1673C>T (p.Pro558Leu) n.2064C>T n.2171C>T n.2031C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11120436_11120437delinsCG | CA2322775591 | LDLR | c.2312_2313delinsCG (p.Pro771=) c.*123_*124delinsCG (n.*123_*124delinsCG) c.1934_1935delinsCG (p.Pro645=) c.2054_2055delinsCG (p.Pro685=) c.2308_2309delinsCG c.1550_1551delinsCG (p.Pro517=) c.1931_1932delinsCG (p.Pro644=) c.1606+203_1606+204delinsCG (n.1606+203_1606+204delinsCG) c.1673_1674delinsCG (p.Pro558=) n.2064_2065delinsCG n.2171_2172delinsCG n.2031_2032delinsCG | |
| 19 | g.11120437del | CA10585751 | LDLR | c.2313del (p.Gln772ArgfsTer23) c.*124del (n.*124del) c.1935del (p.Gln646ArgfsTer23) c.2055del (p.Gln686ArgfsTer23) c.2309del c.1551del (p.Gln518ArgfsTer23) c.1932del (p.Gln645ArgfsTer23) c.1606+204del (n.1606+204del) c.1674del (p.Gln559ArgfsTer23) n.2065del n.2172del n.2032del | ClinVar dbSNP |
| 19 | g.11120437G>A | CA038353 | LDLR | c.2313G>A (p.Pro771=) c.*124G>A (n.*124G>A) c.1935G>A (p.Pro645=) c.2055G>A (p.Pro685=) c.2309G>A c.1551G>A (p.Pro517=) c.1932G>A (p.Pro644=) c.1606+204G>A (n.1606+204G>A) c.1674G>A (p.Pro558=) n.2065G>A n.2172G>A n.2032G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11120437G>C | CA505486529 | LDLR | c.2313G>C (p.Pro771=) c.*124G>C (n.*124G>C) c.1935G>C (p.Pro645=) c.2055G>C (p.Pro685=) c.2309G>C c.1551G>C (p.Pro517=) c.1932G>C (p.Pro644=) c.1606+204G>C (n.1606+204G>C) c.1674G>C (p.Pro558=) n.2065G>C n.2172G>C n.2032G>C | |
| 19 | g.11120437G= | CA2322775593 | LDLR | c.2313G= (p.Pro771=) c.*124G= (n.*124G=) c.1935G= (p.Pro645=) c.2055G= (p.Pro685=) c.2309G= c.1551G= (p.Pro517=) c.1932G= (p.Pro644=) c.1606+204G= (n.1606+204G=) c.1674G= (p.Pro558=) n.2065G= n.2172G= n.2032G= | |
| 19 | g.11120437G>T | CA038370 | LDLR | c.2313G>T (p.Pro771=) c.*124G>T (n.*124G>T) c.1935G>T (p.Pro645=) c.2055G>T (p.Pro685=) c.2309G>T c.1551G>T (p.Pro517=) c.1932G>T (p.Pro644=) c.1606+204G>T (n.1606+204G>T) c.1674G>T (p.Pro558=) n.2065G>T n.2172G>T n.2032G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11120437_11120450delinsGCAGATCAACCCCC | CA2322775594 | LDLR | c.2313_2326delinsGCAGATCAACCCCC (p.Pro771=) c.*124_*137delinsGCAGATCAACCCCC (n.*124_*137delinsGCAGATCAACCCCC) c.1935_1948delinsGCAGATCAACCCCC (p.Pro645=) c.2055_2068delinsGCAGATCAACCCCC (p.Pro685=) c.2309_2322delinsGCAGATCAACCCCC c.1551_1564delinsGCAGATCAACCCCC (p.Pro517=) c.1932_1945delinsGCAGATCAACCCCC (p.Pro644=) c.1606+204_1606+217delinsGCAGATCAACCCCC (n.1606+204_1606+217delinsGCAGATCAACCCCC) c.1674_1687delinsGCAGATCAACCCCC (p.Pro558=) n.2065_2078delinsGCAGATCAACCCCC n.2172_2185delinsGCAGATCAACCCCC n.2032_2045delinsGCAGATCAACCCCC | |
| 19 | g.11120438C>A | CA404093690 | LDLR | c.2314C>A (p.Gln772Lys) c.*125C>A (n.*125C>A) c.1936C>A (p.Gln646Lys) c.2056C>A (p.Gln686Lys) c.2310C>A c.1552C>A (p.Gln518Lys) c.1933C>A (p.Gln645Lys) c.1606+205C>A (n.1606+205C>A) c.1675C>A (p.Gln559Lys) n.2066C>A n.2173C>A n.2033C>A | |
| 19 | g.11120438C= | CA2322775595 | LDLR | c.2314C= (p.Gln772=) c.*125C= (n.*125C=) c.1936C= (p.Gln646=) c.2056C= (p.Gln686=) c.2310C= c.1552C= (p.Gln518=) c.1933C= (p.Gln645=) c.1606+205C= (n.1606+205C=) c.1675C= (p.Gln559=) n.2066C= n.2173C= n.2033C= | |
| 19 | g.11120438C>G | CA16602343 | LDLR | c.2314C>G (p.Gln772Glu) c.*125C>G (n.*125C>G) c.1936C>G (p.Gln646Glu) c.2056C>G (p.Gln686Glu) c.2310C>G c.1552C>G (p.Gln518Glu) c.1933C>G (p.Gln645Glu) c.1606+205C>G (n.1606+205C>G) c.1675C>G (p.Gln559Glu) n.2066C>G n.2173C>G n.2033C>G | ClinVar dbSNP |
| 19 | g.11120438C>T | CA10585752 | LDLR | c.2314C>T (p.Gln772Ter) c.*125C>T (n.*125C>T) c.1936C>T (p.Gln646Ter) c.2056C>T (p.Gln686Ter) c.2310C>T c.1552C>T (p.Gln518Ter) c.1933C>T (p.Gln645Ter) c.1606+205C>T (n.1606+205C>T) c.1675C>T (p.Gln559Ter) n.2066C>T n.2173C>T n.2033C>T | ClinVar dbSNP |
| 19 | g.11120438_11120450del | CA10585753 | LDLR | c.2314_2326del (p.Gln772ThrfsTer19) c.*125_*137del (n.*125_*137del) c.1936_1948del (p.Gln646ThrfsTer19) c.2056_2068del (p.Gln686ThrfsTer19) c.2310_2322del c.1552_1564del (p.Gln518ThrfsTer19) c.1933_1945del (p.Gln645ThrfsTer19) c.1606+205_1606+217del (n.1606+205_1606+217del) c.1675_1687del (p.Gln559ThrfsTer19) n.2066_2078del n.2173_2185del n.2033_2045del | ClinVar dbSNP |
| 19 | g.11120438_11120439insT | CA2497030100 | LDLR | c.2314_2315insT (p.Gln772LeufsTer?) c.*125_*126insT (n.*125_*126insT) c.1936_1937insT (p.Gln646LeufsTer?) c.2056_2057insT (p.Gln686LeufsTer?) c.2310_2311insT c.1552_1553insT (p.Gln518LeufsTer?) c.1933_1934insT (p.Gln645LeufsTer?) c.1606+205_1606+206insT (n.1606+205_1606+206insT) c.1675_1676insT (p.Gln559LeufsTer?) n.2066_2067insT n.2173_2174insT n.2033_2034insT | |
| 19 | g.11120439A>C | CA404093698 | LDLR | c.2315A>C (p.Gln772Pro) c.*126A>C (n.*126A>C) c.1937A>C (p.Gln646Pro) c.2057A>C (p.Gln686Pro) c.2311A>C c.1553A>C (p.Gln518Pro) c.1934A>C (p.Gln645Pro) c.1606+206A>C (n.1606+206A>C) c.1676A>C (p.Gln559Pro) n.2067A>C n.2174A>C n.2034A>C | |
| 19 | g.11120439A>G | CA404093699 | LDLR | c.2315A>G (p.Gln772Arg) c.*126A>G (n.*126A>G) c.1937A>G (p.Gln646Arg) c.2057A>G (p.Gln686Arg) c.2311A>G c.1553A>G (p.Gln518Arg) c.1934A>G (p.Gln645Arg) c.1606+206A>G (n.1606+206A>G) c.1676A>G (p.Gln559Arg) n.2067A>G n.2174A>G n.2034A>G | ClinVar |
| 19 | g.11120439A>T | CA404093701 | LDLR | c.2315A>T (p.Gln772Leu) c.*126A>T (n.*126A>T) c.1937A>T (p.Gln646Leu) c.2057A>T (p.Gln686Leu) c.2311A>T c.1553A>T (p.Gln518Leu) c.1934A>T (p.Gln645Leu) c.1606+206A>T (n.1606+206A>T) c.1676A>T (p.Gln559Leu) n.2067A>T n.2174A>T n.2034A>T | |
| 19 | g.11120440G>A | CA505486532 | LDLR | c.2316G>A (p.Gln772=) c.*127G>A (n.*127G>A) c.1938G>A (p.Gln646=) c.2058G>A (p.Gln686=) c.2312G>A c.1554G>A (p.Gln518=) c.1935G>A (p.Gln645=) c.1606+207G>A (n.1606+207G>A) c.1677G>A (p.Gln559=) n.2068G>A n.2175G>A n.2035G>A | |
| 19 | g.11120440G>C | CA404093703 | LDLR | c.2316G>C (p.Gln772His) c.*127G>C (n.*127G>C) c.1938G>C (p.Gln646His) c.2058G>C (p.Gln686His) c.2312G>C c.1554G>C (p.Gln518His) c.1935G>C (p.Gln645His) c.1606+207G>C (n.1606+207G>C) c.1677G>C (p.Gln559His) n.2068G>C n.2175G>C n.2035G>C | dbSNP |
| 19 | g.11120440G= | CA2322775596 | LDLR | c.2316G= (p.Gln772=) c.*127G= (n.*127G=) c.1938G= (p.Gln646=) c.2058G= (p.Gln686=) c.2312G= c.1554G= (p.Gln518=) c.1935G= (p.Gln645=) c.1606+207G= (n.1606+207G=) c.1677G= (p.Gln559=) n.2068G= n.2175G= n.2035G= | |
| 19 | g.11120440G>T | CA404093705 | LDLR | c.2316G>T (p.Gln772His) c.*127G>T (n.*127G>T) c.1938G>T (p.Gln646His) c.2058G>T (p.Gln686His) c.2312G>T c.1554G>T (p.Gln518His) c.1935G>T (p.Gln645His) c.1606+207G>T (n.1606+207G>T) c.1677G>T (p.Gln559His) n.2068G>T n.2175G>T n.2035G>T | |
| 19 | g.11120441A= | CA2322775597 | LDLR | c.2317A= (p.Ile773=) c.*128A= (n.*128A=) c.1939A= (p.Ile647=) c.2059A= (p.Ile687=) c.2313A= c.1555A= (p.Ile519=) c.1936A= (p.Ile646=) c.1606+208A= (n.1606+208A=) c.1678A= (p.Ile560=) n.2069A= n.2176A= n.2036A= | |
| 19 | g.11120441A>C | CA404093707 | LDLR | c.2317A>C (p.Ile773Leu) c.*128A>C (n.*128A>C) c.1939A>C (p.Ile647Leu) c.2059A>C (p.Ile687Leu) c.2313A>C c.1555A>C (p.Ile519Leu) c.1936A>C (p.Ile646Leu) c.1606+208A>C (n.1606+208A>C) c.1678A>C (p.Ile560Leu) n.2069A>C n.2176A>C n.2036A>C | |
| 19 | g.11120441A>G | CA404093709 | LDLR | c.2317A>G (p.Ile773Val) c.*128A>G (n.*128A>G) c.1939A>G (p.Ile647Val) c.2059A>G (p.Ile687Val) c.2313A>G c.1555A>G (p.Ile519Val) c.1936A>G (p.Ile646Val) c.1606+208A>G (n.1606+208A>G) c.1678A>G (p.Ile560Val) n.2069A>G n.2176A>G n.2036A>G | |
| 19 | g.11120441A>T | CA16609819 | LDLR | c.2317A>T (p.Ile773Phe) c.*128A>T (n.*128A>T) c.1939A>T (p.Ile647Phe) c.2059A>T (p.Ile687Phe) c.2313A>T c.1555A>T (p.Ile519Phe) c.1936A>T (p.Ile646Phe) c.1606+208A>T (n.1606+208A>T) c.1678A>T (p.Ile560Phe) n.2069A>T n.2176A>T n.2036A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11120441_11120442delinsAT | CA2322775598 | LDLR | c.2317_2318delinsAT (p.Ile773=) c.*128_*129delinsAT (n.*128_*129delinsAT) c.1939_1940delinsAT (p.Ile647=) c.2059_2060delinsAT (p.Ile687=) c.2313_2314delinsAT c.1555_1556delinsAT (p.Ile519=) c.1936_1937delinsAT (p.Ile646=) c.1606+208_1606+209delinsAT (n.1606+208_1606+209delinsAT) c.1678_1679delinsAT (p.Ile560=) n.2069_2070delinsAT n.2176_2177delinsAT n.2036_2037delinsAT | |
| 19 | g.11120442del | CA10585754 | LDLR | c.2318del (p.Ile773ThrfsTer22) c.*129del (n.*129del) c.1940del (p.Ile647ThrfsTer22) c.2060del (p.Ile687ThrfsTer22) c.2314del c.1556del (p.Ile519ThrfsTer22) c.1937del (p.Ile646ThrfsTer22) c.1606+209del (n.1606+209del) c.1679del (p.Ile560ThrfsTer22) n.2070del n.2177del n.2037del | ClinVar dbSNP |
| 19 | g.11120442T>A | CA404093714 | LDLR | c.2318T>A (p.Ile773Asn) c.*129T>A (n.*129T>A) c.1940T>A (p.Ile647Asn) c.2060T>A (p.Ile687Asn) c.2314T>A c.1556T>A (p.Ile519Asn) c.1937T>A (p.Ile646Asn) c.1606+209T>A (n.1606+209T>A) c.1679T>A (p.Ile560Asn) n.2070T>A n.2177T>A n.2037T>A | |
| 19 | g.11120442T>C | CA404093715 | LDLR | c.2318T>C (p.Ile773Thr) c.*129T>C (n.*129T>C) c.1940T>C (p.Ile647Thr) c.2060T>C (p.Ile687Thr) c.2314T>C c.1556T>C (p.Ile519Thr) c.1937T>C (p.Ile646Thr) c.1606+209T>C (n.1606+209T>C) c.1679T>C (p.Ile560Thr) n.2070T>C n.2177T>C n.2037T>C | |
| 19 | g.11120442T>G | CA404093717 | LDLR | c.2318T>G (p.Ile773Ser) c.*129T>G (n.*129T>G) c.1940T>G (p.Ile647Ser) c.2060T>G (p.Ile687Ser) c.2314T>G c.1556T>G (p.Ile519Ser) c.1937T>G (p.Ile646Ser) c.1606+209T>G (n.1606+209T>G) c.1679T>G (p.Ile560Ser) n.2070T>G n.2177T>G n.2037T>G | |
| 19 | g.11120442T= | CA2322775599 | LDLR | c.2318T= (p.Ile773=) c.*129T= (n.*129T=) c.1940T= (p.Ile647=) c.2060T= (p.Ile687=) c.2314T= c.1556T= (p.Ile519=) c.1937T= (p.Ile646=) c.1606+209T= (n.1606+209T=) c.1679T= (p.Ile560=) n.2070T= n.2177T= n.2037T= | |
| 19 | g.11120442dup | CA10585755 | LDLR | c.2318dup (p.Asn774GlnfsTer29) c.*129dup (n.*129dup) c.1940dup (p.Asn648GlnfsTer29) c.2060dup (p.Asn688GlnfsTer29) c.2314dup c.1556dup (p.Asn520GlnfsTer29) c.1937dup (p.Asn647GlnfsTer29) c.1606+209dup (n.1606+209dup) c.1679dup (p.Asn561GlnfsTer29) n.2070dup n.2177dup n.2037dup | ClinVar dbSNP |
| 19 | g.11120442_11120443delinsTC | CA2322775600 | LDLR | c.2318_2319delinsTC (p.Ile773=) c.*129_*130delinsTC (n.*129_*130delinsTC) c.1940_1941delinsTC (p.Ile647=) c.2060_2061delinsTC (p.Ile687=) c.2314_2315delinsTC c.1556_1557delinsTC (p.Ile519=) c.1937_1938delinsTC (p.Ile646=) c.1606+209_1606+210delinsTC (n.1606+209_1606+210delinsTC) c.1679_1680delinsTC (p.Ile560=) n.2070_2071delinsTC n.2177_2178delinsTC n.2037_2038delinsTC | |
| 19 | g.11120443del | CA645373258 | LDLR | c.2319del (p.Asn774ThrfsTer21) c.*130del (n.*130del) c.1941del (p.Asn648ThrfsTer21) c.2061del (p.Asn688ThrfsTer21) c.2315del c.1557del (p.Asn520ThrfsTer21) c.1938del (p.Asn647ThrfsTer21) c.1606+210del (n.1606+210del) c.1680del (p.Asn561ThrfsTer21) n.2071del n.2178del n.2038del | ClinVar dbSNP |
| 19 | g.11120443C>A | CA505486536 | LDLR | c.2319C>A (p.Ile773=) c.*130C>A (n.*130C>A) c.1941C>A (p.Ile647=) c.2061C>A (p.Ile687=) c.2315C>A c.1557C>A (p.Ile519=) c.1938C>A (p.Ile646=) c.1606+210C>A (n.1606+210C>A) c.1680C>A (p.Ile560=) n.2071C>A n.2178C>A n.2038C>A | |
| 19 | g.11120443C= | CA2322775601 | LDLR | c.2319C= (p.Ile773=) c.*130C= (n.*130C=) c.1941C= (p.Ile647=) c.2061C= (p.Ile687=) c.2315C= c.1557C= (p.Ile519=) c.1938C= (p.Ile646=) c.1606+210C= (n.1606+210C=) c.1680C= (p.Ile560=) n.2071C= n.2178C= n.2038C= |