Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11123595_11132129del | CA250473 | LDLR | c.2569+251_*813del c.*380+251_*1465del c.2191+251_*813del c.2311+251_*813del c.2565+251_3650del c.2188+251_*813del c.1807+251_*813del c.1777+251_*813del c.1930+251_*813del n.2645+251_3730del n.2288+251_3373del | ClinVar |
19 | g.11125285_11132532dup | CA10585823 | LDLR | c.2569+1941_*1216dup c.*380+1941_*1868dup c.2191+1941_*1216dup c.2311+1941_*1216dup c.2565+1941_4053dup c.2188+1941_*1216dup c.1807+1941_*1216dup c.1777+1941_*1216dup c.1930+1941_*1216dup n.2645+1941_4133dup n.2288+1941_3776dup | |
19 | g.11127453_11132598del | CA2573050624 | LDLR | c.2570-555_*1282del c.*381-555_*1934del c.2192-555_*1282del c.2312-555_*1282del c.2566-555_4119del c.2189-555_*1282del c.1808-555_*1282del c.1778-555_*1282del c.2312-2060_*1282del c.1931-555_*1282del n.2646-555_4199del n.2289-555_3842del | |
19 | g.11128007_11133830del | CA658824396 | LDLR | c.2312-1_*2514del c.2189-1_*2514del c.1808-1_*2514del c.1778-1_*2514del | ClinVar |
19 | g.11128008_11131316del | CA2695202621 | LDLR | c.2570_2841del c.*381_*652del c.2192_2463del c.2312_2583del c.2566_2837del c.1808_2079del c.2189_2460del c.1778_2049del c.2312_2645del c.2312_2577del n.108+354_109-1779del c.2312-1505_2505del c.1931_2202del n.2646_2917del n.2289_2560del | |
19 | g.11129512_11133830del | CA658824397 | LDLR | c.2390-1_*2514del c.2267-1_*2514del c.1886-1_*2514del c.1856-1_*2514del | ClinVar |
19 | g.11129550A= | CA2322780274 | LDLR | c.2685A= (p.Leu895=) c.*496A= (n.*496A=) c.2307A= (p.Leu769=) c.2427A= (p.Leu809=) c.2681A= c.1923A= (p.Leu641=) c.2304A= (p.Leu768=) c.1893A= (p.Leu631=) c.2489A= (p.Tyr830=) n.108+1896A= c.2349A= (p.Leu783=) c.2046A= (p.Leu682=) n.2437A= n.2761A= n.2404A= | |
19 | g.11129550A>C | CA404098647 | LDLR | c.2685A>C (p.Leu895=) c.*496A>C (n.*496A>C) c.2307A>C (p.Leu769=) c.2427A>C (p.Leu809=) c.2681A>C c.1923A>C (p.Leu641=) c.2304A>C (p.Leu768=) c.1893A>C (p.Leu631=) c.2489A>C (p.Tyr830Ser) n.108+1896A>C c.2349A>C (p.Leu783=) c.2046A>C (p.Leu682=) n.2437A>C n.2761A>C n.2404A>C | |
19 | g.11129550A>G | CA040756 | LDLR | c.2685A>G (p.Leu895=) c.*496A>G (n.*496A>G) c.2307A>G (p.Leu769=) c.2427A>G (p.Leu809=) c.2681A>G c.1923A>G (p.Leu641=) c.2304A>G (p.Leu768=) c.1893A>G (p.Leu631=) c.2489A>G (p.Tyr830Cys) n.108+1896A>G c.2349A>G (p.Leu783=) c.2046A>G (p.Leu682=) n.2437A>G n.2761A>G n.2404A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11129550A>T | CA404098660 | LDLR | c.2685A>T (p.Leu895=) c.*496A>T (n.*496A>T) c.2307A>T (p.Leu769=) c.2427A>T (p.Leu809=) c.2681A>T c.1923A>T (p.Leu641=) c.2304A>T (p.Leu768=) c.1893A>T (p.Leu631=) c.2489A>T (p.Tyr830Phe) n.108+1896A>T c.2349A>T (p.Leu783=) c.2046A>T (p.Leu682=) n.2437A>T n.2761A>T n.2404A>T | |
19 | g.11129551T>A | CA404098663 | LDLR | c.2686T>A (p.Trp896Arg) c.*497T>A (n.*497T>A) c.2308T>A (p.Trp770Arg) c.2428T>A (p.Trp810Arg) c.2682T>A c.1924T>A (p.Trp642Arg) c.2305T>A (p.Trp769Arg) c.1894T>A (p.Trp632Arg) c.2490T>A (p.Tyr830Ter) n.108+1897T>A c.2350T>A (p.Trp784Arg) c.2047T>A (p.Trp683Arg) n.2438T>A n.2762T>A n.2405T>A | |
19 | g.11129551T>C | CA404098664 | LDLR | c.2686T>C (p.Trp896Arg) c.*497T>C (n.*497T>C) c.2308T>C (p.Trp770Arg) c.2428T>C (p.Trp810Arg) c.2682T>C c.1924T>C (p.Trp642Arg) c.2305T>C (p.Trp769Arg) c.1894T>C (p.Trp632Arg) c.2490T>C (p.Tyr830=) n.108+1897T>C c.2350T>C (p.Trp784Arg) c.2047T>C (p.Trp683Arg) n.2438T>C n.2762T>C n.2405T>C | |
19 | g.11129551T>G | CA404098665 | LDLR | c.2686T>G (p.Trp896Gly) c.*497T>G (n.*497T>G) c.2308T>G (p.Trp770Gly) c.2428T>G (p.Trp810Gly) c.2682T>G c.1924T>G (p.Trp642Gly) c.2305T>G (p.Trp769Gly) c.1894T>G (p.Trp632Gly) c.2490T>G (p.Tyr830Ter) n.108+1897T>G c.2350T>G (p.Trp784Gly) c.2047T>G (p.Trp683Gly) n.2438T>G n.2762T>G n.2405T>G | |
19 | g.11129552G>A | CA404098667 | LDLR | c.2687G>A (p.Trp896Ter) c.*498G>A (n.*498G>A) c.2309G>A (p.Trp770Ter) c.2429G>A (p.Trp810Ter) c.2683G>A c.1925G>A (p.Trp642Ter) c.2306G>A (p.Trp769Ter) c.1895G>A (p.Trp632Ter) c.2491G>A (p.Gly831Arg) n.108+1898G>A c.2351G>A (p.Trp784Ter) c.2048G>A (p.Trp683Ter) n.2439G>A n.2763G>A n.2406G>A | |
19 | g.11129552G>C | CA404098671 | LDLR | c.2687G>C (p.Trp896Ser) c.*498G>C (n.*498G>C) c.2309G>C (p.Trp770Ser) c.2429G>C (p.Trp810Ser) c.2683G>C c.1925G>C (p.Trp642Ser) c.2306G>C (p.Trp769Ser) c.1895G>C (p.Trp632Ser) c.2491G>C (p.Gly831Arg) n.108+1898G>C c.2351G>C (p.Trp784Ser) c.2048G>C (p.Trp683Ser) n.2439G>C n.2763G>C n.2406G>C | |
19 | g.11129552G>T | CA404098673 | LDLR | c.2687G>T (p.Trp896Leu) c.*498G>T (n.*498G>T) c.2309G>T (p.Trp770Leu) c.2429G>T (p.Trp810Leu) c.2683G>T c.1925G>T (p.Trp642Leu) c.2306G>T (p.Trp769Leu) c.1895G>T (p.Trp632Leu) c.2491G>T (p.Gly831Ter) n.108+1898G>T c.2351G>T (p.Trp784Leu) c.2048G>T (p.Trp683Leu) n.2439G>T n.2763G>T n.2406G>T | |
19 | g.11129552_11129553insCAACTCCATTTCCCGGGTTCAAGT | CA2582476512 | LDLR | c.2687_2688insCAACTCCATTTCCCGGGTTCAAGT (p.Trp896delinsCysAsnSerIleSerArgValGlnVal) c.*498_*499insCAACTCCATTTCCCGGGTTCAAGT (n.*498_*499insCAACTCCATTTCCCGGGTTCAAGT) c.2309_2310insCAACTCCATTTCCCGGGTTCAAGT (p.Trp770delinsCysAsnSerIleSerArgValGlnVal) c.2429_2430insCAACTCCATTTCCCGGGTTCAAGT (p.Trp810delinsCysAsnSerIleSerArgValGlnVal) c.2683_2684insCAACTCCATTTCCCGGGTTCAAGT c.1925_1926insCAACTCCATTTCCCGGGTTCAAGT (p.Trp642delinsCysAsnSerIleSerArgValGlnVal) c.2306_2307insCAACTCCATTTCCCGGGTTCAAGT (p.Trp769delinsCysAsnSerIleSerArgValGlnVal) c.1895_1896insCAACTCCATTTCCCGGGTTCAAGT (p.Trp632delinsCysAsnSerIleSerArgValGlnVal) c.2491_2492insCAACTCCATTTCCCGGGTTCAAGT (p.Gly831AlafsTer9) n.108+1898_108+1899insCAACTCCATTTCCCGGGTTCAAGT c.2351_2352insCAACTCCATTTCCCGGGTTCAAGT (p.Trp784delinsCysAsnSerIleSerArgValGlnVal) c.2048_2049insCAACTCCATTTCCCGGGTTCAAGT (p.Trp683delinsCysAsnSerIleSerArgValGlnVal) n.2439_2440insCAACTCCATTTCCCGGGTTCAAGT n.2763_2764insCAACTCCATTTCCCGGGTTCAAGT n.2406_2407insCAACTCCATTTCCCGGGTTCAAGT | gnomAD v4 |
19 | g.11129553G>A | CA10585864 | LDLR | c.2688G>A (p.Trp896Ter) c.*499G>A (n.*499G>A) c.2310G>A (p.Trp770Ter) c.2430G>A (p.Trp810Ter) c.2684G>A c.1926G>A (p.Trp642Ter) c.2307G>A (p.Trp769Ter) c.1896G>A (p.Trp632Ter) c.2492G>A (p.Gly831Glu) n.108+1899G>A c.2352G>A (p.Trp784Ter) c.2049G>A (p.Trp683Ter) n.2440G>A n.2764G>A n.2407G>A | ClinVar dbSNP |
19 | g.11129553G>C | CA404098675 | LDLR | c.2688G>C (p.Trp896Cys) c.*499G>C (n.*499G>C) c.2310G>C (p.Trp770Cys) c.2430G>C (p.Trp810Cys) c.2684G>C c.1926G>C (p.Trp642Cys) c.2307G>C (p.Trp769Cys) c.1896G>C (p.Trp632Cys) c.2492G>C (p.Gly831Ala) n.108+1899G>C c.2352G>C (p.Trp784Cys) c.2049G>C (p.Trp683Cys) n.2440G>C n.2764G>C n.2407G>C | ClinVar gnomAD v4 |
19 | g.11129553G= | CA2322780275 | LDLR | c.2688G= (p.Trp896=) c.*499G= (n.*499G=) c.2310G= (p.Trp770=) c.2430G= (p.Trp810=) c.2684G= c.1926G= (p.Trp642=) c.2307G= (p.Trp769=) c.1896G= (p.Trp632=) c.2492G= (p.Gly831=) n.108+1899G= c.2352G= (p.Trp784=) c.2049G= (p.Trp683=) n.2440G= n.2764G= n.2407G= | |
19 | g.11129553G>T | CA404098681 | LDLR | c.2688G>T (p.Trp896Cys) c.*499G>T (n.*499G>T) c.2310G>T (p.Trp770Cys) c.2430G>T (p.Trp810Cys) c.2684G>T c.1926G>T (p.Trp642Cys) c.2307G>T (p.Trp769Cys) c.1896G>T (p.Trp632Cys) c.2492G>T (p.Gly831Val) n.108+1899G>T c.2352G>T (p.Trp784Cys) c.2049G>T (p.Trp683Cys) n.2440G>T n.2764G>T n.2407G>T | |
19 | g.11129554A= | CA2322780276 | LDLR | c.2689A= (p.Lys897=) c.*500A= (n.*500A=) c.2311A= (p.Lys771=) c.2431A= (p.Lys811=) c.2685A= c.1927A= (p.Lys643=) c.2308A= (p.Lys770=) c.1897A= (p.Lys633=) c.2493A= (p.Gly831=) n.108+1900A= c.2353A= (p.Lys785=) c.2050A= (p.Lys684=) n.2441A= n.2765A= n.2408A= | |
19 | g.11129554A>C | CA404098689 | LDLR | c.2689A>C (p.Lys897Gln) c.*500A>C (n.*500A>C) c.2311A>C (p.Lys771Gln) c.2431A>C (p.Lys811Gln) c.2685A>C c.1927A>C (p.Lys643Gln) c.2308A>C (p.Lys770Gln) c.1897A>C (p.Lys633Gln) c.2493A>C (p.Gly831=) n.108+1900A>C c.2353A>C (p.Lys785Gln) c.2050A>C (p.Lys684Gln) n.2441A>C n.2765A>C n.2408A>C | |
19 | g.11129554A>G | CA404098692 | LDLR | c.2689A>G (p.Lys897Glu) c.*500A>G (n.*500A>G) c.2311A>G (p.Lys771Glu) c.2431A>G (p.Lys811Glu) c.2685A>G c.1927A>G (p.Lys643Glu) c.2308A>G (p.Lys770Glu) c.1897A>G (p.Lys633Glu) c.2493A>G (p.Gly831=) n.108+1900A>G c.2353A>G (p.Lys785Glu) c.2050A>G (p.Lys684Glu) n.2441A>G n.2765A>G n.2408A>G | |
19 | g.11129554A>T | CA10585865 | LDLR | c.2689A>T (p.Lys897Ter) c.*500A>T (n.*500A>T) c.2311A>T (p.Lys771Ter) c.2431A>T (p.Lys811Ter) c.2685A>T c.1927A>T (p.Lys643Ter) c.2308A>T (p.Lys770Ter) c.1897A>T (p.Lys633Ter) c.2493A>T (p.Gly831=) n.108+1900A>T c.2353A>T (p.Lys785Ter) c.2050A>T (p.Lys684Ter) n.2441A>T n.2765A>T n.2408A>T | ClinVar dbSNP gnomAD v4 |
19 | g.11129554_11129555insTTCTCCTCCCTCAGCCTCCCAAGT | CA2582476513 | LDLR | c.2689_2690insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys897IlefsTer9) c.*500_*501insTTCTCCTCCCTCAGCCTCCCAAGT (n.*500_*501insTTCTCCTCCCTCAGCCTCCCAAGT) c.2311_2312insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys771IlefsTer9) c.2431_2432insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys811IlefsTer9) c.2685_2686insTTCTCCTCCCTCAGCCTCCCAAGT c.1927_1928insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys643IlefsTer9) c.2308_2309insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys770IlefsTer9) c.1897_1898insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys633IlefsTer9) c.2493_2494insTTCTCCTCCCTCAGCCTCCCAAGT (p.Gly831_Arg832insPheSerSerLeuSerLeuProSer) n.108+1900_108+1901insTTCTCCTCCCTCAGCCTCCCAAGT c.2353_2354insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys785IlefsTer9) c.2050_2051insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys684IlefsTer9) n.2441_2442insTTCTCCTCCCTCAGCCTCCCAAGT n.2765_2766insTTCTCCTCCCTCAGCCTCCCAAGT n.2408_2409insTTCTCCTCCCTCAGCCTCCCAAGT | gnomAD v4 |
19 | g.11129555A>C | CA404098698 | LDLR | c.2690A>C (p.Lys897Thr) c.*501A>C (n.*501A>C) c.2312A>C (p.Lys771Thr) c.2432A>C (p.Lys811Thr) c.2686A>C c.1928A>C (p.Lys643Thr) c.2309A>C (p.Lys770Thr) c.1898A>C (p.Lys633Thr) c.2494A>C (p.Arg832=) n.108+1901A>C c.2354A>C (p.Lys785Thr) c.2051A>C (p.Lys684Thr) n.2442A>C n.2766A>C n.2409A>C | |
19 | g.11129555A>G | CA404098700 | LDLR | c.2690A>G (p.Lys897Arg) c.*501A>G (n.*501A>G) c.2312A>G (p.Lys771Arg) c.2432A>G (p.Lys811Arg) c.2686A>G c.1928A>G (p.Lys643Arg) c.2309A>G (p.Lys770Arg) c.1898A>G (p.Lys633Arg) c.2494A>G (p.Arg832Gly) n.108+1901A>G c.2354A>G (p.Lys785Arg) c.2051A>G (p.Lys684Arg) n.2442A>G n.2766A>G n.2409A>G | ClinVar |
19 | g.11129555A>T | CA404098705 | LDLR | c.2690A>T (p.Lys897Met) c.*501A>T (n.*501A>T) c.2312A>T (p.Lys771Met) c.2432A>T (p.Lys811Met) c.2686A>T c.1928A>T (p.Lys643Met) c.2309A>T (p.Lys770Met) c.1898A>T (p.Lys633Met) c.2494A>T (p.Arg832Ter) n.108+1901A>T c.2354A>T (p.Lys785Met) c.2051A>T (p.Lys684Met) n.2442A>T n.2766A>T n.2409A>T | |
19 | g.11129556G>A | CA404098711 | LDLR | c.2691G>A (p.Lys897=) c.*502G>A (n.*502G>A) c.2313G>A (p.Lys771=) c.2433G>A (p.Lys811=) c.2687G>A c.1929G>A (p.Lys643=) c.2310G>A (p.Lys770=) c.1899G>A (p.Lys633=) c.2495G>A (p.Arg832Lys) n.108+1902G>A c.2355G>A (p.Lys785=) c.2052G>A (p.Lys684=) n.2443G>A n.2767G>A n.2410G>A | gnomAD v4 |
19 | g.11129556G>C | CA404098714 | LDLR | c.2691G>C (p.Lys897Asn) c.*502G>C (n.*502G>C) c.2313G>C (p.Lys771Asn) c.2433G>C (p.Lys811Asn) c.2687G>C c.1929G>C (p.Lys643Asn) c.2310G>C (p.Lys770Asn) c.1899G>C (p.Lys633Asn) c.2495G>C (p.Arg832Thr) n.108+1902G>C c.2355G>C (p.Lys785Asn) c.2052G>C (p.Lys684Asn) n.2443G>C n.2767G>C n.2410G>C | ClinVar gnomAD v4 |
19 | g.11129556G>T | CA404098716 | LDLR | c.2691G>T (p.Lys897Asn) c.*502G>T (n.*502G>T) c.2313G>T (p.Lys771Asn) c.2433G>T (p.Lys811Asn) c.2687G>T c.1929G>T (p.Lys643Asn) c.2310G>T (p.Lys770Asn) c.1899G>T (p.Lys633Asn) c.2495G>T (p.Arg832Ile) n.108+1902G>T c.2355G>T (p.Lys785Asn) c.2052G>T (p.Lys684Asn) n.2443G>T n.2767G>T n.2410G>T | |
19 | g.11129557A>C | CA404098720 | LDLR | c.2692A>C (p.Asn898His) c.*503A>C (n.*503A>C) c.2314A>C (p.Asn772His) c.2434A>C (p.Asn812His) c.2688A>C c.1930A>C (p.Asn644His) c.2311A>C (p.Asn771His) c.1900A>C (p.Asn634His) c.2496A>C (p.Arg832Ser) n.108+1903A>C c.2356A>C (p.Asn786His) c.2053A>C (p.Asn685His) n.2444A>C n.2768A>C n.2411A>C | |
19 | g.11129557A>G | CA404098721 | LDLR | c.2692A>G (p.Asn898Asp) c.*503A>G (n.*503A>G) c.2314A>G (p.Asn772Asp) c.2434A>G (p.Asn812Asp) c.2688A>G c.1930A>G (p.Asn644Asp) c.2311A>G (p.Asn771Asp) c.1900A>G (p.Asn634Asp) c.2496A>G (p.Arg832=) n.108+1903A>G c.2356A>G (p.Asn786Asp) c.2053A>G (p.Asn685Asp) n.2444A>G n.2768A>G n.2411A>G | |
19 | g.11129557A>T | CA404098722 | LDLR | c.2692A>T (p.Asn898Tyr) c.*503A>T (n.*503A>T) c.2314A>T (p.Asn772Tyr) c.2434A>T (p.Asn812Tyr) c.2688A>T c.1930A>T (p.Asn644Tyr) c.2311A>T (p.Asn771Tyr) c.1900A>T (p.Asn634Tyr) c.2496A>T (p.Arg832Ser) n.108+1903A>T c.2356A>T (p.Asn786Tyr) c.2053A>T (p.Asn685Tyr) n.2444A>T n.2768A>T n.2411A>T | |
19 | g.11129558A>C | CA404098727 | LDLR | c.2693A>C (p.Asn898Thr) c.*504A>C (n.*504A>C) c.2315A>C (p.Asn772Thr) c.2435A>C (p.Asn812Thr) c.2689A>C c.1931A>C (p.Asn644Thr) c.2312A>C (p.Asn771Thr) c.1901A>C (p.Asn634Thr) c.2497A>C (p.Thr833Pro) n.108+1904A>C c.2357A>C (p.Asn786Thr) c.2054A>C (p.Asn685Thr) n.2445A>C n.2769A>C n.2412A>C | |
19 | g.11129558A>G | CA404098730 | LDLR | c.2693A>G (p.Asn898Ser) c.*504A>G (n.*504A>G) c.2315A>G (p.Asn772Ser) c.2435A>G (p.Asn812Ser) c.2689A>G c.1931A>G (p.Asn644Ser) c.2312A>G (p.Asn771Ser) c.1901A>G (p.Asn634Ser) c.2497A>G (p.Thr833Ala) n.108+1904A>G c.2357A>G (p.Asn786Ser) c.2054A>G (p.Asn685Ser) n.2445A>G n.2769A>G n.2412A>G | |
19 | g.11129558A>T | CA404098725 | LDLR | c.2693A>T (p.Asn898Ile) c.*504A>T (n.*504A>T) c.2315A>T (p.Asn772Ile) c.2435A>T (p.Asn812Ile) c.2689A>T c.1931A>T (p.Asn644Ile) c.2312A>T (p.Asn771Ile) c.1901A>T (p.Asn634Ile) c.2497A>T (p.Thr833Ser) n.108+1904A>T c.2357A>T (p.Asn786Ile) c.2054A>T (p.Asn685Ile) n.2445A>T n.2769A>T n.2412A>T | |
19 | g.11129559C>A | CA404098736 | LDLR | c.2694C>A (p.Asn898Lys) c.*505C>A (n.*505C>A) c.2316C>A (p.Asn772Lys) c.2436C>A (p.Asn812Lys) c.2690C>A c.1932C>A (p.Asn644Lys) c.2313C>A (p.Asn771Lys) c.1902C>A (p.Asn634Lys) c.2498C>A (p.Thr833Asn) n.108+1905C>A c.2358C>A (p.Asn786Lys) c.2055C>A (p.Asn685Lys) n.2446C>A n.2770C>A n.2413C>A | |
19 | g.11129559C>G | CA404098740 | LDLR | c.2694C>G (p.Asn898Lys) c.*505C>G (n.*505C>G) c.2316C>G (p.Asn772Lys) c.2436C>G (p.Asn812Lys) c.2690C>G c.1932C>G (p.Asn644Lys) c.2313C>G (p.Asn771Lys) c.1902C>G (p.Asn634Lys) c.2498C>G (p.Thr833Ser) n.108+1905C>G c.2358C>G (p.Asn786Lys) c.2055C>G (p.Asn685Lys) n.2446C>G n.2770C>G n.2413C>G | |
19 | g.11129559C>T | CA404098745 | LDLR | c.2694C>T (p.Asn898=) c.*505C>T (n.*505C>T) c.2316C>T (p.Asn772=) c.2436C>T (p.Asn812=) c.2690C>T c.1932C>T (p.Asn644=) c.2313C>T (p.Asn771=) c.1902C>T (p.Asn634=) c.2498C>T (p.Thr833Ile) n.108+1905C>T c.2358C>T (p.Asn786=) c.2055C>T (p.Asn685=) n.2446C>T n.2770C>T n.2413C>T | |
19 | g.11129560T>A | CA404098749 | LDLR | c.2695T>A (p.Trp899Arg) c.*506T>A (n.*506T>A) c.2317T>A (p.Trp773Arg) c.2437T>A (p.Trp813Arg) c.2691T>A c.1933T>A (p.Trp645Arg) c.2314T>A (p.Trp772Arg) c.1903T>A (p.Trp635Arg) c.2499T>A (p.Thr833=) n.108+1906T>A c.2359T>A (p.Trp787Arg) c.2056T>A (p.Trp686Arg) n.2447T>A n.2771T>A n.2414T>A | |
19 | g.11129560T>C | CA404098753 | LDLR | c.2695T>C (p.Trp899Arg) c.*506T>C (n.*506T>C) c.2317T>C (p.Trp773Arg) c.2437T>C (p.Trp813Arg) c.2691T>C c.1933T>C (p.Trp645Arg) c.2314T>C (p.Trp772Arg) c.1903T>C (p.Trp635Arg) c.2499T>C (p.Thr833=) n.108+1906T>C c.2359T>C (p.Trp787Arg) c.2056T>C (p.Trp686Arg) n.2447T>C n.2771T>C n.2414T>C | |
19 | g.11129560T>G | CA404098759 | LDLR | c.2695T>G (p.Trp899Gly) c.*506T>G (n.*506T>G) c.2317T>G (p.Trp773Gly) c.2437T>G (p.Trp813Gly) c.2691T>G c.1933T>G (p.Trp645Gly) c.2314T>G (p.Trp772Gly) c.1903T>G (p.Trp635Gly) c.2499T>G (p.Thr833=) n.108+1906T>G c.2359T>G (p.Trp787Gly) c.2056T>G (p.Trp686Gly) n.2447T>G n.2771T>G n.2414T>G | |
19 | g.11129561G>A | CA10585866 | LDLR | c.2696G>A (p.Trp899Ter) c.*507G>A (n.*507G>A) c.2318G>A (p.Trp773Ter) c.2438G>A (p.Trp813Ter) c.2692G>A c.1934G>A (p.Trp645Ter) c.2315G>A (p.Trp772Ter) c.1904G>A (p.Trp635Ter) c.2500G>A (p.Gly834Ser) n.108+1907G>A c.2360G>A (p.Trp787Ter) c.2057G>A (p.Trp686Ter) n.2448G>A n.2772G>A n.2415G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11129561G>C | CA404098762 | LDLR | c.2696G>C (p.Trp899Ser) c.*507G>C (n.*507G>C) c.2318G>C (p.Trp773Ser) c.2438G>C (p.Trp813Ser) c.2692G>C c.1934G>C (p.Trp645Ser) c.2315G>C (p.Trp772Ser) c.1904G>C (p.Trp635Ser) c.2500G>C (p.Gly834Arg) n.108+1907G>C c.2360G>C (p.Trp787Ser) c.2057G>C (p.Trp686Ser) n.2448G>C n.2772G>C n.2415G>C | |
19 | g.11129561G= | CA2322780277 | LDLR | c.2696G= (p.Trp899=) c.*507G= (n.*507G=) c.2318G= (p.Trp773=) c.2438G= (p.Trp813=) c.2692G= c.1934G= (p.Trp645=) c.2315G= (p.Trp772=) c.1904G= (p.Trp635=) c.2500G= (p.Gly834=) n.108+1907G= c.2360G= (p.Trp787=) c.2057G= (p.Trp686=) n.2448G= n.2772G= n.2415G= | |
19 | g.11129561G>T | CA404098767 | LDLR | c.2696G>T (p.Trp899Leu) c.*507G>T (n.*507G>T) c.2318G>T (p.Trp773Leu) c.2438G>T (p.Trp813Leu) c.2692G>T c.1934G>T (p.Trp645Leu) c.2315G>T (p.Trp772Leu) c.1904G>T (p.Trp635Leu) c.2500G>T (p.Gly834Cys) n.108+1907G>T c.2360G>T (p.Trp787Leu) c.2057G>T (p.Trp686Leu) n.2448G>T n.2772G>T n.2415G>T | |
19 | g.11129562G>A | CA023668 | LDLR | c.2697G>A (p.Trp899Ter) c.*508G>A (n.*508G>A) c.2319G>A (p.Trp773Ter) c.2439G>A (p.Trp813Ter) c.2693G>A c.1935G>A (p.Trp645Ter) c.2316G>A (p.Trp772Ter) c.1905G>A (p.Trp635Ter) c.2501G>A (p.Gly834Asp) n.108+1908G>A c.2361G>A (p.Trp787Ter) c.2058G>A (p.Trp686Ter) n.2449G>A n.2773G>A n.2416G>A | ClinVar dbSNP |
19 | g.11129562G>C | CA404098779 | LDLR | c.2697G>C (p.Trp899Cys) c.*508G>C (n.*508G>C) c.2319G>C (p.Trp773Cys) c.2439G>C (p.Trp813Cys) c.2693G>C c.1935G>C (p.Trp645Cys) c.2316G>C (p.Trp772Cys) c.1905G>C (p.Trp635Cys) c.2501G>C (p.Gly834Ala) n.108+1908G>C c.2361G>C (p.Trp787Cys) c.2058G>C (p.Trp686Cys) n.2449G>C n.2773G>C n.2416G>C | |
19 | g.11129562G= | CA2322780278 | LDLR | c.2697G= (p.Trp899=) c.*508G= (n.*508G=) c.2319G= (p.Trp773=) c.2439G= (p.Trp813=) c.2693G= c.1935G= (p.Trp645=) c.2316G= (p.Trp772=) c.1905G= (p.Trp635=) c.2501G= (p.Gly834=) n.108+1908G= c.2361G= (p.Trp787=) c.2058G= (p.Trp686=) n.2449G= n.2773G= n.2416G= | |
19 | g.11129562G>T | CA404098780 | LDLR | c.2697G>T (p.Trp899Cys) c.*508G>T (n.*508G>T) c.2319G>T (p.Trp773Cys) c.2439G>T (p.Trp813Cys) c.2693G>T c.1935G>T (p.Trp645Cys) c.2316G>T (p.Trp772Cys) c.1905G>T (p.Trp635Cys) c.2501G>T (p.Gly834Val) n.108+1908G>T c.2361G>T (p.Trp787Cys) c.2058G>T (p.Trp686Cys) n.2449G>T n.2773G>T n.2416G>T | |
19 | g.11129563C>A | CA505743517 | LDLR | c.2698C>A (p.Arg900=) c.*509C>A (n.*509C>A) c.2320C>A (p.Arg774=) c.2440C>A (p.Arg814=) c.2694C>A c.1936C>A (p.Arg646=) c.2317C>A (p.Arg773=) c.1906C>A (p.Arg636=) c.2502C>A (p.Gly834=) n.108+1909C>A c.2362C>A (p.Arg788=) c.2059C>A (p.Arg687=) n.2450C>A n.2774C>A n.2417C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11129563C= | CA2322780279 | LDLR | c.2698C= (p.Arg900=) c.*509C= (n.*509C=) c.2320C= (p.Arg774=) c.2440C= (p.Arg814=) c.2694C= c.1936C= (p.Arg646=) c.2317C= (p.Arg773=) c.1906C= (p.Arg636=) c.2502C= (p.Gly834=) n.108+1909C= c.2362C= (p.Arg788=) c.2059C= (p.Arg687=) n.2450C= n.2774C= n.2417C= | |
19 | g.11129563C>G | CA404098784 | LDLR | c.2698C>G (p.Arg900Gly) c.*509C>G (n.*509C>G) c.2320C>G (p.Arg774Gly) c.2440C>G (p.Arg814Gly) c.2694C>G c.1936C>G (p.Arg646Gly) c.2317C>G (p.Arg773Gly) c.1906C>G (p.Arg636Gly) c.2502C>G (p.Gly834=) n.108+1909C>G c.2362C>G (p.Arg788Gly) c.2059C>G (p.Arg687Gly) n.2450C>G n.2774C>G n.2417C>G | |
19 | g.11129563C>T | CA040769 | LDLR | c.2698C>T (p.Arg900Trp) c.*509C>T (n.*509C>T) c.2320C>T (p.Arg774Trp) c.2440C>T (p.Arg814Trp) c.2694C>T c.1936C>T (p.Arg646Trp) c.2317C>T (p.Arg773Trp) c.1906C>T (p.Arg636Trp) c.2502C>T (p.Gly834=) n.108+1909C>T c.2362C>T (p.Arg788Trp) c.2059C>T (p.Arg687Trp) n.2450C>T n.2774C>T n.2417C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11129564G>A | CA023671 | LDLR | c.2699G>A (p.Arg900Gln) c.*510G>A (n.*510G>A) c.2321G>A (p.Arg774Gln) c.2441G>A (p.Arg814Gln) c.2695G>A c.1937G>A (p.Arg646Gln) c.2318G>A (p.Arg773Gln) c.1907G>A (p.Arg636Gln) c.2503G>A (p.Gly835Ser) n.108+1910G>A c.2363G>A (p.Arg788Gln) c.2060G>A (p.Arg687Gln) n.2451G>A n.2775G>A n.2418G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11129564G>C | CA404098787 | LDLR | c.2699G>C (p.Arg900Pro) c.*510G>C (n.*510G>C) c.2321G>C (p.Arg774Pro) c.2441G>C (p.Arg814Pro) c.2695G>C c.1937G>C (p.Arg646Pro) c.2318G>C (p.Arg773Pro) c.1907G>C (p.Arg636Pro) c.2503G>C (p.Gly835Arg) n.108+1910G>C c.2363G>C (p.Arg788Pro) c.2060G>C (p.Arg687Pro) n.2451G>C n.2775G>C n.2418G>C | |
19 | g.11129564G= | CA2322780280 | LDLR | c.2699G= (p.Arg900=) c.*510G= (n.*510G=) c.2321G= (p.Arg774=) c.2441G= (p.Arg814=) c.2695G= c.1937G= (p.Arg646=) c.2318G= (p.Arg773=) c.1907G= (p.Arg636=) c.2503G= (p.Gly835=) n.108+1910G= c.2363G= (p.Arg788=) c.2060G= (p.Arg687=) n.2451G= n.2775G= n.2418G= | |
19 | g.11129564G>T | CA404098797 | LDLR | c.2699G>T (p.Arg900Leu) c.*510G>T (n.*510G>T) c.2321G>T (p.Arg774Leu) c.2441G>T (p.Arg814Leu) c.2695G>T c.1937G>T (p.Arg646Leu) c.2318G>T (p.Arg773Leu) c.1907G>T (p.Arg636Leu) c.2503G>T (p.Gly835Cys) n.108+1910G>T c.2363G>T (p.Arg788Leu) c.2060G>T (p.Arg687Leu) n.2451G>T n.2775G>T n.2418G>T | gnomAD v4 |
19 | g.11129565del | CA2499225332 | LDLR | c.2700del (p.Lys902ArgfsTer?) c.*511del (n.*511del) c.2322del (p.Lys776ArgfsTer?) c.2442del (p.Lys816ArgfsTer?) c.2696del c.1938del (p.Lys648ArgfsTer?) c.2319del (p.Lys775ArgfsTer?) c.1908del (p.Lys638ArgfsTer?) c.2504del (p.Gly835AlafsTer2) n.108+1911del c.2364del (p.Lys790ArgfsTer?) c.2061del (p.Lys689ArgfsTer?) n.2452del n.2776del n.2419del | ClinVar dbSNP |
19 | g.11129565G>A | CA305309104 | LDLR | c.2700G>A (p.Arg900=) c.*511G>A (n.*511G>A) c.2322G>A (p.Arg774=) c.2442G>A (p.Arg814=) c.2696G>A c.1938G>A (p.Arg646=) c.2319G>A (p.Arg773=) c.1908G>A (p.Arg636=) c.2504G>A (p.Gly835Asp) n.108+1911G>A c.2364G>A (p.Arg788=) c.2061G>A (p.Arg687=) n.2452G>A n.2776G>A n.2419G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11129565G>C | CA404098808 | LDLR | c.2700G>C (p.Arg900=) c.*511G>C (n.*511G>C) c.2322G>C (p.Arg774=) c.2442G>C (p.Arg814=) c.2696G>C c.1938G>C (p.Arg646=) c.2319G>C (p.Arg773=) c.1908G>C (p.Arg636=) c.2504G>C (p.Gly835Ala) n.108+1911G>C c.2364G>C (p.Arg788=) c.2061G>C (p.Arg687=) n.2452G>C n.2776G>C n.2419G>C | |
19 | g.11129565G= | CA2322780281 | LDLR | c.2700G= (p.Arg900=) c.*511G= (n.*511G=) c.2322G= (p.Arg774=) c.2442G= (p.Arg814=) c.2696G= c.1938G= (p.Arg646=) c.2319G= (p.Arg773=) c.1908G= (p.Arg636=) c.2504G= (p.Gly835=) n.108+1911G= c.2364G= (p.Arg788=) c.2061G= (p.Arg687=) n.2452G= n.2776G= n.2419G= | |
19 | g.11129565G>T | CA404098811 | LDLR | c.2700G>T (p.Arg900=) c.*511G>T (n.*511G>T) c.2322G>T (p.Arg774=) c.2442G>T (p.Arg814=) c.2696G>T c.1938G>T (p.Arg646=) c.2319G>T (p.Arg773=) c.1908G>T (p.Arg636=) c.2504G>T (p.Gly835Val) n.108+1911G>T c.2364G>T (p.Arg788=) c.2061G>T (p.Arg687=) n.2452G>T n.2776G>T n.2419G>T | |
19 | g.11129566C>A | CA404098812 | LDLR | c.2701C>A (p.Leu901Ile) c.*512C>A (n.*512C>A) c.2323C>A (p.Leu775Ile) c.2443C>A (p.Leu815Ile) c.2697C>A c.1939C>A (p.Leu647Ile) c.2320C>A (p.Leu774Ile) c.1909C>A (p.Leu637Ile) c.2505C>A (p.Gly835=) n.108+1912C>A c.2365C>A (p.Leu789Ile) c.2062C>A (p.Leu688Ile) n.2453C>A n.2777C>A n.2420C>A | gnomAD v4 |
19 | g.11129566C>G | CA404098813 | LDLR | c.2701C>G (p.Leu901Val) c.*512C>G (n.*512C>G) c.2323C>G (p.Leu775Val) c.2443C>G (p.Leu815Val) c.2697C>G c.1939C>G (p.Leu647Val) c.2320C>G (p.Leu774Val) c.1909C>G (p.Leu637Val) c.2505C>G (p.Gly835=) n.108+1912C>G c.2365C>G (p.Leu789Val) c.2062C>G (p.Leu688Val) n.2453C>G n.2777C>G n.2420C>G | dbSNP |
19 | g.11129566C>T | CA404098814 | LDLR | c.2701C>T (p.Leu901Phe) c.*512C>T (n.*512C>T) c.2323C>T (p.Leu775Phe) c.2443C>T (p.Leu815Phe) c.2697C>T c.1939C>T (p.Leu647Phe) c.2320C>T (p.Leu774Phe) c.1909C>T (p.Leu637Phe) c.2505C>T (p.Gly835=) n.108+1912C>T c.2365C>T (p.Leu789Phe) c.2062C>T (p.Leu688Phe) n.2453C>T n.2777C>T n.2420C>T | |
19 | g.11129567T>A | CA404098819 | LDLR | c.2702T>A (p.Leu901His) c.*513T>A (n.*513T>A) c.2324T>A (p.Leu775His) c.2444T>A (p.Leu815His) c.2698T>A c.1940T>A (p.Leu647His) c.2321T>A (p.Leu774His) c.1910T>A (p.Leu637His) c.2506T>A (p.Leu836Ile) n.108+1913T>A c.2366T>A (p.Leu789His) c.2063T>A (p.Leu688His) n.2454T>A n.2778T>A n.2421T>A | ClinVar dbSNP |
19 | g.11129567T>C | CA404098822 | LDLR | c.2702T>C (p.Leu901Pro) c.*513T>C (n.*513T>C) c.2324T>C (p.Leu775Pro) c.2444T>C (p.Leu815Pro) c.2698T>C c.1940T>C (p.Leu647Pro) c.2321T>C (p.Leu774Pro) c.1910T>C (p.Leu637Pro) c.2506T>C (p.Leu836=) n.108+1913T>C c.2366T>C (p.Leu789Pro) c.2063T>C (p.Leu688Pro) n.2454T>C n.2778T>C n.2421T>C | |
19 | g.11129567T>G | CA404098826 | LDLR | c.2702T>G (p.Leu901Arg) c.*513T>G (n.*513T>G) c.2324T>G (p.Leu775Arg) c.2444T>G (p.Leu815Arg) c.2698T>G c.1940T>G (p.Leu647Arg) c.2321T>G (p.Leu774Arg) c.1910T>G (p.Leu637Arg) c.2506T>G (p.Leu836Val) n.108+1913T>G c.2366T>G (p.Leu789Arg) c.2063T>G (p.Leu688Arg) n.2454T>G n.2778T>G n.2421T>G | |
19 | g.11129567T= | CA2322780282 | LDLR | c.2702T= (p.Leu901=) c.*513T= (n.*513T=) c.2324T= (p.Leu775=) c.2444T= (p.Leu815=) c.2698T= c.1940T= (p.Leu647=) c.2321T= (p.Leu774=) c.1910T= (p.Leu637=) c.2506T= (p.Leu836=) n.108+1913T= c.2366T= (p.Leu789=) c.2063T= (p.Leu688=) n.2454T= n.2778T= n.2421T= | |
19 | g.11129568T>A | CA404098830 | LDLR | c.2703T>A (p.Leu901=) c.*514T>A (n.*514T>A) c.2325T>A (p.Leu775=) c.2445T>A (p.Leu815=) c.2699T>A c.1941T>A (p.Leu647=) c.2322T>A (p.Leu774=) c.1911T>A (p.Leu637=) c.2507T>A (p.Leu836Ter) n.108+1914T>A c.2367T>A (p.Leu789=) c.2064T>A (p.Leu688=) n.2455T>A n.2779T>A n.2422T>A | |
19 | g.11129568T>C | CA404098833 | LDLR | c.2703T>C (p.Leu901=) c.*514T>C (n.*514T>C) c.2325T>C (p.Leu775=) c.2445T>C (p.Leu815=) c.2699T>C c.1941T>C (p.Leu647=) c.2322T>C (p.Leu774=) c.1911T>C (p.Leu637=) c.2507T>C (p.Leu836Ser) n.108+1914T>C c.2367T>C (p.Leu789=) c.2064T>C (p.Leu688=) n.2455T>C n.2779T>C n.2422T>C | |
19 | g.11129568T>G | CA404098837 | LDLR | c.2703T>G (p.Leu901=) c.*514T>G (n.*514T>G) c.2325T>G (p.Leu775=) c.2445T>G (p.Leu815=) c.2699T>G c.1941T>G (p.Leu647=) c.2322T>G (p.Leu774=) c.1911T>G (p.Leu637=) c.2507T>G (p.Leu836Ter) n.108+1914T>G c.2367T>G (p.Leu789=) c.2064T>G (p.Leu688=) n.2455T>G n.2779T>G n.2422T>G | |
19 | g.11129568T= | CA2322780283 | LDLR | c.2703T= (p.Leu901=) c.*514T= (n.*514T=) c.2325T= (p.Leu775=) c.2445T= (p.Leu815=) c.2699T= c.1941T= (p.Leu647=) c.2322T= (p.Leu774=) c.1911T= (p.Leu637=) c.2507T= (p.Leu836=) n.108+1914T= c.2367T= (p.Leu789=) c.2064T= (p.Leu688=) n.2455T= n.2779T= n.2422T= | |
19 | g.11129569A= | CA2322780284 | LDLR | c.2704A= (p.Lys902=) c.*515A= (n.*515A=) c.2326A= (p.Lys776=) c.2446A= (p.Lys816=) c.2700A= c.1942A= (p.Lys648=) c.2323A= (p.Lys775=) c.1912A= (p.Lys638=) c.2508A= (p.Leu836=) n.108+1915A= c.2368A= (p.Lys790=) c.2065A= (p.Lys689=) n.2456A= n.2780A= n.2423A= | |
19 | g.11129569A>C | CA404098844 | LDLR | c.2704A>C (p.Lys902Gln) c.*515A>C (n.*515A>C) c.2326A>C (p.Lys776Gln) c.2446A>C (p.Lys816Gln) c.2700A>C c.1942A>C (p.Lys648Gln) c.2323A>C (p.Lys775Gln) c.1912A>C (p.Lys638Gln) c.2508A>C (p.Leu836Phe) n.108+1915A>C c.2368A>C (p.Lys790Gln) c.2065A>C (p.Lys689Gln) n.2456A>C n.2780A>C n.2423A>C | ClinVar dbSNP |
19 | g.11129569A>G | CA404098854 | LDLR | c.2704A>G (p.Lys902Glu) c.*515A>G (n.*515A>G) c.2326A>G (p.Lys776Glu) c.2446A>G (p.Lys816Glu) c.2700A>G c.1942A>G (p.Lys648Glu) c.2323A>G (p.Lys775Glu) c.1912A>G (p.Lys638Glu) c.2508A>G (p.Leu836=) n.108+1915A>G c.2368A>G (p.Lys790Glu) c.2065A>G (p.Lys689Glu) n.2456A>G n.2780A>G n.2423A>G | ClinVar |
19 | g.11129569A>T | CA10585867 | LDLR | c.2704A>T (p.Lys902Ter) c.*515A>T (n.*515A>T) c.2326A>T (p.Lys776Ter) c.2446A>T (p.Lys816Ter) c.2700A>T c.1942A>T (p.Lys648Ter) c.2323A>T (p.Lys775Ter) c.1912A>T (p.Lys638Ter) c.2508A>T (p.Leu836Phe) n.108+1915A>T c.2368A>T (p.Lys790Ter) c.2065A>T (p.Lys689Ter) n.2456A>T n.2780A>T n.2423A>T | ClinVar dbSNP |
19 | g.11129570_11129573dup | CA023673 | LDLR | c.2705_2708dup (p.Asn903LysfsTer9) c.*516_*519dup (n.*516_*519dup) c.2327_2330dup (p.Asn777LysfsTer9) c.2447_2450dup (p.Asn817LysfsTer9) c.2701_2704dup c.1943_1946dup (p.Asn649LysfsTer9) c.2324_2327dup (p.Asn776LysfsTer9) c.1913_1916dup (p.Asn639LysfsTer9) c.2509_2512dup (p.Thr838LysfsTer?) n.108+1916_108+1919dup c.2369_2372dup (p.Asn791LysfsTer9) c.2066_2069dup (p.Asn690LysfsTer9) n.2457_2460dup n.2781_2784dup n.2424_2427dup | ClinVar dbSNP |
19 | g.11129585_11129586insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT | CA2499225333 | LDLR | c.2720_2721insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile908GlyfsTer22) c.*531_*532insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (n.*531_*532insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT) c.2342_2343insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile782GlyfsTer22) c.2462_2463insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile822GlyfsTer22) c.2716_2717insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT c.1958_1959insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile654GlyfsTer22) c.2339_2340insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile781GlyfsTer22) c.1928_1929insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile644GlyfsTer22) c.2524_2525insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ser842LeufsTer10) n.108+1931_108+1932insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT c.2384_2385insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile796GlyfsTer22) c.2081_2082insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile695GlyfsTer22) n.2796_2797insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT n.2439_2440insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT | ClinVar dbSNP |
19 | g.11129570A>C | CA404098863 | LDLR | c.2705A>C (p.Lys902Thr) c.*516A>C (n.*516A>C) c.2327A>C (p.Lys776Thr) c.2447A>C (p.Lys816Thr) c.2701A>C c.1943A>C (p.Lys648Thr) c.2324A>C (p.Lys775Thr) c.1913A>C (p.Lys638Thr) c.2509A>C (p.Arg837=) n.108+1916A>C c.2369A>C (p.Lys790Thr) c.2066A>C (p.Lys689Thr) n.2457A>C n.2781A>C n.2424A>C | |
19 | g.11129570A>G | CA404098866 | LDLR | c.2705A>G (p.Lys902Arg) c.*516A>G (n.*516A>G) c.2327A>G (p.Lys776Arg) c.2447A>G (p.Lys816Arg) c.2701A>G c.1943A>G (p.Lys648Arg) c.2324A>G (p.Lys775Arg) c.1913A>G (p.Lys638Arg) c.2509A>G (p.Arg837Gly) n.108+1916A>G c.2369A>G (p.Lys790Arg) c.2066A>G (p.Lys689Arg) n.2457A>G n.2781A>G n.2424A>G | ClinVar |
19 | g.11129570A>T | CA404098869 | LDLR | c.2705A>T (p.Lys902Met) c.*516A>T (n.*516A>T) c.2327A>T (p.Lys776Met) c.2447A>T (p.Lys816Met) c.2701A>T c.1943A>T (p.Lys648Met) c.2324A>T (p.Lys775Met) c.1913A>T (p.Lys638Met) c.2509A>T (p.Arg837Ter) n.108+1916A>T c.2369A>T (p.Lys790Met) c.2066A>T (p.Lys689Met) n.2457A>T n.2781A>T n.2424A>T | |
19 | g.11129571G>A | CA404098873 | LDLR | c.2706G>A (p.Lys902=) c.*517G>A (n.*517G>A) c.2328G>A (p.Lys776=) c.2448G>A (p.Lys816=) c.2702G>A c.1944G>A (p.Lys648=) c.2325G>A (p.Lys775=) c.1914G>A (p.Lys638=) c.2510G>A (p.Arg837Lys) n.108+1917G>A c.2370G>A (p.Lys790=) c.2067G>A (p.Lys689=) n.2458G>A n.2782G>A n.2425G>A | |
19 | g.11129571G>C | CA404098878 | LDLR | c.2706G>C (p.Lys902Asn) c.*517G>C (n.*517G>C) c.2328G>C (p.Lys776Asn) c.2448G>C (p.Lys816Asn) c.2702G>C c.1944G>C (p.Lys648Asn) c.2325G>C (p.Lys775Asn) c.1914G>C (p.Lys638Asn) c.2510G>C (p.Arg837Thr) n.108+1917G>C c.2370G>C (p.Lys790Asn) c.2067G>C (p.Lys689Asn) n.2458G>C n.2782G>C n.2425G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11129571G= | CA2322780285 | LDLR | c.2706G= (p.Lys902=) c.*517G= (n.*517G=) c.2328G= (p.Lys776=) c.2448G= (p.Lys816=) c.2702G= c.1944G= (p.Lys648=) c.2325G= (p.Lys775=) c.1914G= (p.Lys638=) c.2510G= (p.Arg837=) n.108+1917G= c.2370G= (p.Lys790=) c.2067G= (p.Lys689=) n.2458G= n.2782G= n.2425G= | |
19 | g.11129571G>T | CA404098881 | LDLR | c.2706G>T (p.Lys902Asn) c.*517G>T (n.*517G>T) c.2328G>T (p.Lys776Asn) c.2448G>T (p.Lys816Asn) c.2702G>T c.1944G>T (p.Lys648Asn) c.2325G>T (p.Lys775Asn) c.1914G>T (p.Lys638Asn) c.2510G>T (p.Arg837Ile) n.108+1917G>T c.2370G>T (p.Lys790Asn) c.2067G>T (p.Lys689Asn) n.2458G>T n.2782G>T n.2425G>T | |
19 | g.11129572A>C | CA404098887 | LDLR | c.2707A>C (p.Asn903His) c.*518A>C (n.*518A>C) c.2329A>C (p.Asn777His) c.2449A>C (p.Asn817His) c.2703A>C c.1945A>C (p.Asn649His) c.2326A>C (p.Asn776His) c.1915A>C (p.Asn639His) c.2511A>C (p.Arg837Ser) n.108+1918A>C c.2371A>C (p.Asn791His) c.2068A>C (p.Asn690His) n.2459A>C n.2783A>C n.2426A>C | |
19 | g.11129572A>G | CA404098891 | LDLR | c.2707A>G (p.Asn903Asp) c.*518A>G (n.*518A>G) c.2329A>G (p.Asn777Asp) c.2449A>G (p.Asn817Asp) c.2703A>G c.1945A>G (p.Asn649Asp) c.2326A>G (p.Asn776Asp) c.1915A>G (p.Asn639Asp) c.2511A>G (p.Arg837=) n.108+1918A>G c.2371A>G (p.Asn791Asp) c.2068A>G (p.Asn690Asp) n.2459A>G n.2783A>G n.2426A>G | |
19 | g.11129572A>T | CA404098896 | LDLR | c.2707A>T (p.Asn903Tyr) c.*518A>T (n.*518A>T) c.2329A>T (p.Asn777Tyr) c.2449A>T (p.Asn817Tyr) c.2703A>T c.1945A>T (p.Asn649Tyr) c.2326A>T (p.Asn776Tyr) c.1915A>T (p.Asn639Tyr) c.2511A>T (p.Arg837Ser) n.108+1918A>T c.2371A>T (p.Asn791Tyr) c.2068A>T (p.Asn690Tyr) n.2459A>T n.2783A>T n.2426A>T | |
19 | g.11129572_11129576del | CA2499225334 | LDLR | c.2707_2711del (p.Asn903GlnfsTer6) c.*518_*522del (n.*518_*522del) c.2329_2333del (p.Asn777GlnfsTer6) c.2449_2453del (p.Asn817GlnfsTer6) c.2703_2707del c.1945_1949del (p.Asn649GlnfsTer6) c.2326_2330del (p.Asn776GlnfsTer6) c.1915_1919del (p.Asn639GlnfsTer6) c.2511_2515del (p.Arg837SerfsTer?) n.108+1918_108+1922del c.2371_2375del (p.Asn791GlnfsTer6) c.2068_2072del (p.Asn690GlnfsTer6) n.2783_2787del n.2426_2430del | ClinVar dbSNP |
19 | g.11129573A>C | CA404098898 | LDLR | c.2708A>C (p.Asn903Thr) c.*519A>C (n.*519A>C) c.2330A>C (p.Asn777Thr) c.2450A>C (p.Asn817Thr) c.2704A>C c.1946A>C (p.Asn649Thr) c.2327A>C (p.Asn776Thr) c.1916A>C (p.Asn639Thr) c.2512A>C (p.Thr838Pro) n.108+1919A>C c.2372A>C (p.Asn791Thr) c.2069A>C (p.Asn690Thr) n.2460A>C n.2784A>C n.2427A>C | |
19 | g.11129573A>G | CA404098901 | LDLR | c.2708A>G (p.Asn903Ser) c.*519A>G (n.*519A>G) c.2330A>G (p.Asn777Ser) c.2450A>G (p.Asn817Ser) c.2704A>G c.1946A>G (p.Asn649Ser) c.2327A>G (p.Asn776Ser) c.1916A>G (p.Asn639Ser) c.2512A>G (p.Thr838Ala) n.108+1919A>G c.2372A>G (p.Asn791Ser) c.2069A>G (p.Asn690Ser) n.2460A>G n.2784A>G n.2427A>G | |
19 | g.11129573A>T | CA404098902 | LDLR | c.2708A>T (p.Asn903Ile) c.*519A>T (n.*519A>T) c.2330A>T (p.Asn777Ile) c.2450A>T (p.Asn817Ile) c.2704A>T c.1946A>T (p.Asn649Ile) c.2327A>T (p.Asn776Ile) c.1916A>T (p.Asn639Ile) c.2512A>T (p.Thr838Ser) n.108+1919A>T c.2372A>T (p.Asn791Ile) c.2069A>T (p.Asn690Ile) n.2460A>T n.2784A>T n.2427A>T | gnomAD v4 |
19 | g.11129573_11129582delinsACATCAACAG | CA2322780286 | LDLR | c.2708_2717delinsACATCAACAG (p.Asn903=) c.*519_*528delinsACATCAACAG (n.*519_*528delinsACATCAACAG) c.2330_2339delinsACATCAACAG (p.Asn777=) c.2450_2459delinsACATCAACAG (p.Asn817=) c.2704_2713delinsACATCAACAG c.1946_1955delinsACATCAACAG (p.Asn649=) c.2327_2336delinsACATCAACAG (p.Asn776=) c.1916_1925delinsACATCAACAG (p.Asn639=) c.2512_2521delinsACATCAACAG (p.Thr838=) n.108+1919_108+1928delinsACATCAACAG c.2372_2381delinsACATCAACAG (p.Asn791=) c.2069_2078delinsACATCAACAG (p.Asn690=) n.2784_2793delinsACATCAACAG n.2427_2436delinsACATCAACAG | |
19 | g.11129574C>A | CA404098905 | LDLR | c.2709C>A (p.Asn903Lys) c.*520C>A (n.*520C>A) c.2331C>A (p.Asn777Lys) c.2451C>A (p.Asn817Lys) c.2705C>A c.1947C>A (p.Asn649Lys) c.2328C>A (p.Asn776Lys) c.1917C>A (p.Asn639Lys) c.2513C>A (p.Thr838Lys) n.108+1920C>A c.2373C>A (p.Asn791Lys) c.2070C>A (p.Asn690Lys) n.2461C>A n.2785C>A n.2428C>A | |
19 | g.11129574C>G | CA404098912 | LDLR | c.2709C>G (p.Asn903Lys) c.*520C>G (n.*520C>G) c.2331C>G (p.Asn777Lys) c.2451C>G (p.Asn817Lys) c.2705C>G c.1947C>G (p.Asn649Lys) c.2328C>G (p.Asn776Lys) c.1917C>G (p.Asn639Lys) c.2513C>G (p.Thr838Arg) n.108+1920C>G c.2373C>G (p.Asn791Lys) c.2070C>G (p.Asn690Lys) n.2461C>G n.2785C>G n.2428C>G | |
19 | g.11129574C>T | CA404098908 | LDLR | c.2709C>T (p.Asn903=) c.*520C>T (n.*520C>T) c.2331C>T (p.Asn777=) c.2451C>T (p.Asn817=) c.2705C>T c.1947C>T (p.Asn649=) c.2328C>T (p.Asn776=) c.1917C>T (p.Asn639=) c.2513C>T (p.Thr838Ile) n.108+1920C>T c.2373C>T (p.Asn791=) c.2070C>T (p.Asn690=) n.2461C>T n.2785C>T n.2428C>T | |
19 | g.11129581_11129589del | CA10585868 | LDLR | c.2716_2724del (p.Ser906_Asn908del) c.*527_*535del (n.*527_*535del) c.2338_2346del (p.Ser780_Asn782del) c.2458_2466del (p.Ser820_Asn822del) c.2712_2720del c.1954_1962del (p.Ser652_Asn654del) c.2335_2343del (p.Ser779_Asn781del) c.1924_1932del (p.Ser642_Asn644del) c.2520_2528del (p.Ala841_Thr843del) n.108+1927_108+1935del c.2380_2388del (p.Ser794_Asn796del) c.2077_2085del (p.Ser693_Asn695del) n.2792_2800del n.2435_2443del | ClinVar dbSNP |
19 | g.11129575A>C | CA404098915 | LDLR | c.2710A>C (p.Ile904Leu) c.*521A>C (n.*521A>C) c.2332A>C (p.Ile778Leu) c.2452A>C (p.Ile818Leu) c.2706A>C c.1948A>C (p.Ile650Leu) c.2329A>C (p.Ile777Leu) c.1918A>C (p.Ile640Leu) c.2514A>C (p.Thr838=) n.108+1921A>C c.2374A>C (p.Ile792Leu) c.2071A>C (p.Ile691Leu) n.2462A>C n.2786A>C n.2429A>C | |
19 | g.11129575A>G | CA404098928 | LDLR | c.2710A>G (p.Ile904Val) c.*521A>G (n.*521A>G) c.2332A>G (p.Ile778Val) c.2452A>G (p.Ile818Val) c.2706A>G c.1948A>G (p.Ile650Val) c.2329A>G (p.Ile777Val) c.1918A>G (p.Ile640Val) c.2514A>G (p.Thr838=) n.108+1921A>G c.2374A>G (p.Ile792Val) c.2071A>G (p.Ile691Val) n.2462A>G n.2786A>G n.2429A>G | ClinVar dbSNP |
19 | g.11129575A>T | CA404098930 | LDLR | c.2710A>T (p.Ile904Phe) c.*521A>T (n.*521A>T) c.2332A>T (p.Ile778Phe) c.2452A>T (p.Ile818Phe) c.2706A>T c.1948A>T (p.Ile650Phe) c.2329A>T (p.Ile777Phe) c.1918A>T (p.Ile640Phe) c.2514A>T (p.Thr838=) n.108+1921A>T c.2374A>T (p.Ile792Phe) c.2071A>T (p.Ile691Phe) n.2462A>T n.2786A>T n.2429A>T | |
19 | g.11129576T>A | CA404098932 | LDLR | c.2711T>A (p.Ile904Asn) c.*522T>A (n.*522T>A) c.2333T>A (p.Ile778Asn) c.2453T>A (p.Ile818Asn) c.2707T>A c.1949T>A (p.Ile650Asn) c.2330T>A (p.Ile777Asn) c.1919T>A (p.Ile640Asn) c.2515T>A (p.Ser839Thr) n.108+1922T>A c.2375T>A (p.Ile792Asn) c.2072T>A (p.Ile691Asn) n.2787T>A n.2430T>A | |
19 | g.11129576T>C | CA404098935 | LDLR | c.2711T>C (p.Ile904Thr) c.*522T>C (n.*522T>C) c.2333T>C (p.Ile778Thr) c.2453T>C (p.Ile818Thr) c.2707T>C c.1949T>C (p.Ile650Thr) c.2330T>C (p.Ile777Thr) c.1919T>C (p.Ile640Thr) c.2515T>C (p.Ser839Pro) n.108+1922T>C c.2375T>C (p.Ile792Thr) c.2072T>C (p.Ile691Thr) n.2787T>C n.2430T>C | |
19 | g.11129576T>G | CA404098937 | LDLR | c.2711T>G (p.Ile904Ser) c.*522T>G (n.*522T>G) c.2333T>G (p.Ile778Ser) c.2453T>G (p.Ile818Ser) c.2707T>G c.1949T>G (p.Ile650Ser) c.2330T>G (p.Ile777Ser) c.1919T>G (p.Ile640Ser) c.2515T>G (p.Ser839Ala) n.108+1922T>G c.2375T>G (p.Ile792Ser) c.2072T>G (p.Ile691Ser) n.2787T>G n.2430T>G | |
19 | g.11129577C>A | CA404098941 | LDLR | c.2712C>A (p.Ile904=) c.*523C>A (n.*523C>A) c.2334C>A (p.Ile778=) c.2454C>A (p.Ile818=) c.2708C>A c.1950C>A (p.Ile650=) c.2331C>A (p.Ile777=) c.1920C>A (p.Ile640=) c.2516C>A (p.Ser839Ter) n.108+1923C>A c.2376C>A (p.Ile792=) c.2073C>A (p.Ile691=) n.2788C>A n.2431C>A | dbSNP |
19 | g.11129577C= | CA2322780287 | LDLR | c.2712C= (p.Ile904=) c.*523C= (n.*523C=) c.2334C= (p.Ile778=) c.2454C= (p.Ile818=) c.2708C= c.1950C= (p.Ile650=) c.2331C= (p.Ile777=) c.1920C= (p.Ile640=) c.2516C= (p.Ser839=) n.108+1923C= c.2376C= (p.Ile792=) c.2073C= (p.Ile691=) n.2788C= n.2431C= | |
19 | g.11129577C>G | CA404098943 | LDLR | c.2712C>G (p.Ile904Met) c.*523C>G (n.*523C>G) c.2334C>G (p.Ile778Met) c.2454C>G (p.Ile818Met) c.2708C>G c.1950C>G (p.Ile650Met) c.2331C>G (p.Ile777Met) c.1920C>G (p.Ile640Met) c.2516C>G (p.Ser839Ter) n.108+1923C>G c.2376C>G (p.Ile792Met) c.2073C>G (p.Ile691Met) n.2788C>G n.2431C>G | gnomAD v4 COSMIC |
19 | g.11129577C>T | CA404098954 | LDLR | c.2712C>T (p.Ile904=) c.*523C>T (n.*523C>T) c.2334C>T (p.Ile778=) c.2454C>T (p.Ile818=) c.2708C>T c.1950C>T (p.Ile650=) c.2331C>T (p.Ile777=) c.1920C>T (p.Ile640=) c.2516C>T (p.Ser839Leu) n.108+1923C>T c.2376C>T (p.Ile792=) c.2073C>T (p.Ile691=) n.2788C>T n.2431C>T | |
19 | g.11129578A>C | CA404098965 | LDLR | c.2713A>C (p.Asn905His) c.*524A>C (n.*524A>C) c.2335A>C (p.Asn779His) c.2455A>C (p.Asn819His) c.2709A>C c.1951A>C (p.Asn651His) c.2332A>C (p.Asn778His) c.1921A>C (p.Asn641His) c.2517A>C (p.Ser839=) n.108+1924A>C c.2377A>C (p.Asn793His) c.2074A>C (p.Asn692His) n.2789A>C n.2432A>C | |
19 | g.11129578A>G | CA404098958 | LDLR | c.2713A>G (p.Asn905Asp) c.*524A>G (n.*524A>G) c.2335A>G (p.Asn779Asp) c.2455A>G (p.Asn819Asp) c.2709A>G c.1951A>G (p.Asn651Asp) c.2332A>G (p.Asn778Asp) c.1921A>G (p.Asn641Asp) c.2517A>G (p.Ser839=) n.108+1924A>G c.2377A>G (p.Asn793Asp) c.2074A>G (p.Asn692Asp) n.2789A>G n.2432A>G | |
19 | g.11129578A>T | CA404098960 | LDLR | c.2713A>T (p.Asn905Tyr) c.*524A>T (n.*524A>T) c.2335A>T (p.Asn779Tyr) c.2455A>T (p.Asn819Tyr) c.2709A>T c.1951A>T (p.Asn651Tyr) c.2332A>T (p.Asn778Tyr) c.1921A>T (p.Asn641Tyr) c.2517A>T (p.Ser839=) n.108+1924A>T c.2377A>T (p.Asn793Tyr) c.2074A>T (p.Asn692Tyr) n.2789A>T n.2432A>T | |
19 | g.11129579A>C | CA404098975 | LDLR | c.2714A>C (p.Asn905Thr) c.*525A>C (n.*525A>C) c.2336A>C (p.Asn779Thr) c.2456A>C (p.Asn819Thr) c.2710A>C c.1952A>C (p.Asn651Thr) c.2333A>C (p.Asn778Thr) c.1922A>C (p.Asn641Thr) c.2518A>C (p.Thr840Pro) n.108+1925A>C c.2378A>C (p.Asn793Thr) c.2075A>C (p.Asn692Thr) n.2790A>C n.2433A>C | |
19 | g.11129579A>G | CA404098977 | LDLR | c.2714A>G (p.Asn905Ser) c.*525A>G (n.*525A>G) c.2336A>G (p.Asn779Ser) c.2456A>G (p.Asn819Ser) c.2710A>G c.1952A>G (p.Asn651Ser) c.2333A>G (p.Asn778Ser) c.1922A>G (p.Asn641Ser) c.2518A>G (p.Thr840Ala) n.108+1925A>G c.2378A>G (p.Asn793Ser) c.2075A>G (p.Asn692Ser) n.2790A>G n.2433A>G | ClinVar gnomAD v4 |
19 | g.11129579A>T | CA404098979 | LDLR | c.2714A>T (p.Asn905Ile) c.*525A>T (n.*525A>T) c.2336A>T (p.Asn779Ile) c.2456A>T (p.Asn819Ile) c.2710A>T c.1952A>T (p.Asn651Ile) c.2333A>T (p.Asn778Ile) c.1922A>T (p.Asn641Ile) c.2518A>T (p.Thr840Ser) n.108+1925A>T c.2378A>T (p.Asn793Ile) c.2075A>T (p.Asn692Ile) n.2790A>T n.2433A>T | |
19 | g.11129580C>A | CA404098982 | LDLR | c.2715C>A (p.Asn905Lys) c.*526C>A (n.*526C>A) c.2337C>A (p.Asn779Lys) c.2457C>A (p.Asn819Lys) c.2711C>A c.1953C>A (p.Asn651Lys) c.2334C>A (p.Asn778Lys) c.1923C>A (p.Asn641Lys) c.2519C>A (p.Thr840Lys) n.108+1926C>A c.2379C>A (p.Asn793Lys) c.2076C>A (p.Asn692Lys) n.2791C>A n.2434C>A | |
19 | g.11129580C= | CA2322780288 | LDLR | c.2715C= (p.Asn905=) c.*526C= (n.*526C=) c.2337C= (p.Asn779=) c.2457C= (p.Asn819=) c.2711C= c.1953C= (p.Asn651=) c.2334C= (p.Asn778=) c.1923C= (p.Asn641=) c.2519C= (p.Thr840=) n.108+1926C= c.2379C= (p.Asn793=) c.2076C= (p.Asn692=) n.2791C= n.2434C= | |
19 | g.11129580C>G | CA404098985 | LDLR | c.2715C>G (p.Asn905Lys) c.*526C>G (n.*526C>G) c.2337C>G (p.Asn779Lys) c.2457C>G (p.Asn819Lys) c.2711C>G c.1953C>G (p.Asn651Lys) c.2334C>G (p.Asn778Lys) c.1923C>G (p.Asn641Lys) c.2519C>G (p.Thr840Arg) n.108+1926C>G c.2379C>G (p.Asn793Lys) c.2076C>G (p.Asn692Lys) n.2791C>G n.2434C>G | |
19 | g.11129580C>T | CA040790 | LDLR | c.2715C>T (p.Asn905=) c.*526C>T (n.*526C>T) c.2337C>T (p.Asn779=) c.2457C>T (p.Asn819=) c.2711C>T c.1953C>T (p.Asn651=) c.2334C>T (p.Asn778=) c.1923C>T (p.Asn641=) c.2519C>T (p.Thr840Ile) n.108+1926C>T c.2379C>T (p.Asn793=) c.2076C>T (p.Asn692=) n.2791C>T n.2434C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11129582_11129587del | CA2582476514 | LDLR | c.2717_2722del (p.Ser906_Ile907del) c.*528_*533del (n.*528_*533del) c.2339_2344del (p.Ser780_Ile781del) c.2459_2464del (p.Ser820_Ile821del) c.2713_2718del c.1955_1960del (p.Ser652_Ile653del) c.2336_2341del (p.Ser779_Ile780del) c.1925_1930del (p.Ser642_Ile643del) c.2521_2526del (p.Ala841_Ser842del) n.108+1928_108+1933del c.2381_2386del (p.Ser794_Ile795del) c.2078_2083del (p.Ser693_Ile694del) n.2793_2798del n.2436_2441del | gnomAD v4 |
19 | g.11129581A= | CA2322780289 | LDLR | c.2716A= (p.Ser906=) c.*527A= (n.*527A=) c.2338A= (p.Ser780=) c.2458A= (p.Ser820=) c.2712A= c.1954A= (p.Ser652=) c.2335A= (p.Ser779=) c.1924A= (p.Ser642=) c.2520A= (p.Thr840=) n.108+1927A= c.2380A= (p.Ser794=) c.2077A= (p.Ser693=) n.2792A= n.2435A= | |
19 | g.11129581A>C | CA404099003 | LDLR | c.2716A>C (p.Ser906Arg) c.*527A>C (n.*527A>C) c.2338A>C (p.Ser780Arg) c.2458A>C (p.Ser820Arg) c.2712A>C c.1954A>C (p.Ser652Arg) c.2335A>C (p.Ser779Arg) c.1924A>C (p.Ser642Arg) c.2520A>C (p.Thr840=) n.108+1927A>C c.2380A>C (p.Ser794Arg) c.2077A>C (p.Ser693Arg) n.2792A>C n.2435A>C | |
19 | g.11129581A>G | CA404098998 | LDLR | c.2716A>G (p.Ser906Gly) c.*527A>G (n.*527A>G) c.2338A>G (p.Ser780Gly) c.2458A>G (p.Ser820Gly) c.2712A>G c.1954A>G (p.Ser652Gly) c.2335A>G (p.Ser779Gly) c.1924A>G (p.Ser642Gly) c.2520A>G (p.Thr840=) n.108+1927A>G c.2380A>G (p.Ser794Gly) c.2077A>G (p.Ser693Gly) n.2792A>G n.2435A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11129581A>T | CA404098994 | LDLR | c.2716A>T (p.Ser906Cys) c.*527A>T (n.*527A>T) c.2338A>T (p.Ser780Cys) c.2458A>T (p.Ser820Cys) c.2712A>T c.1954A>T (p.Ser652Cys) c.2335A>T (p.Ser779Cys) c.1924A>T (p.Ser642Cys) c.2520A>T (p.Thr840=) n.108+1927A>T c.2380A>T (p.Ser794Cys) c.2077A>T (p.Ser693Cys) n.2792A>T n.2435A>T | |
19 | g.11129582_11129583insAAAG | CA2830773961 | LDLR | c.2717_2718insAAAG (p.Ser906ArgfsTer6) c.*528_*529insAAAG (n.*528_*529insAAAG) c.2339_2340insAAAG (p.Ser780ArgfsTer6) c.2459_2460insAAAG (p.Ser820ArgfsTer6) c.2713_2714insAAAG c.1955_1956insAAAG (p.Ser652ArgfsTer6) c.2336_2337insAAAG (p.Ser779ArgfsTer6) c.1925_1926insAAAG (p.Ser642ArgfsTer6) c.2521_2522insAAAG (p.Ala841GlufsTer?) n.108+1928_108+1929insAAAG c.2381_2382insAAAG (p.Ser794ArgfsTer6) c.2078_2079insAAAG (p.Ser693ArgfsTer6) n.2793_2794insAAAG n.2436_2437insAAAG | |
19 | g.11129582G>A | CA404099008 | LDLR | c.2717G>A (p.Ser906Asn) c.*528G>A (n.*528G>A) c.2339G>A (p.Ser780Asn) c.2459G>A (p.Ser820Asn) c.2713G>A c.1955G>A (p.Ser652Asn) c.2336G>A (p.Ser779Asn) c.1925G>A (p.Ser642Asn) c.2521G>A (p.Ala841Thr) n.108+1928G>A c.2381G>A (p.Ser794Asn) c.2078G>A (p.Ser693Asn) n.2793G>A n.2436G>A | gnomAD v4 |
19 | g.11129582G>C | CA404099011 | LDLR | c.2717G>C (p.Ser906Thr) c.*528G>C (n.*528G>C) c.2339G>C (p.Ser780Thr) c.2459G>C (p.Ser820Thr) c.2713G>C c.1955G>C (p.Ser652Thr) c.2336G>C (p.Ser779Thr) c.1925G>C (p.Ser642Thr) c.2521G>C (p.Ala841Pro) n.108+1928G>C c.2381G>C (p.Ser794Thr) c.2078G>C (p.Ser693Thr) n.2793G>C n.2436G>C | |
19 | g.11129582G>T | CA404099015 | LDLR | c.2717G>T (p.Ser906Ile) c.*528G>T (n.*528G>T) c.2339G>T (p.Ser780Ile) c.2459G>T (p.Ser820Ile) c.2713G>T c.1955G>T (p.Ser652Ile) c.2336G>T (p.Ser779Ile) c.1925G>T (p.Ser642Ile) c.2521G>T (p.Ala841Ser) n.108+1928G>T c.2381G>T (p.Ser794Ile) c.2078G>T (p.Ser693Ile) n.2793G>T n.2436G>T | |
19 | g.11129583C>A | CA404099019 | LDLR | c.2718C>A (p.Ser906Arg) c.*529C>A (n.*529C>A) c.2340C>A (p.Ser780Arg) c.2460C>A (p.Ser820Arg) c.2714C>A c.1956C>A (p.Ser652Arg) c.2337C>A (p.Ser779Arg) c.1926C>A (p.Ser642Arg) c.2522C>A (p.Ala841Glu) n.108+1929C>A c.2382C>A (p.Ser794Arg) c.2079C>A (p.Ser693Arg) n.2794C>A n.2437C>A | |
19 | g.11129583C>G | CA404099023 | LDLR | c.2718C>G (p.Ser906Arg) c.*529C>G (n.*529C>G) c.2340C>G (p.Ser780Arg) c.2460C>G (p.Ser820Arg) c.2714C>G c.1956C>G (p.Ser652Arg) c.2337C>G (p.Ser779Arg) c.1926C>G (p.Ser642Arg) c.2522C>G (p.Ala841Gly) n.108+1929C>G c.2382C>G (p.Ser794Arg) c.2079C>G (p.Ser693Arg) n.2794C>G n.2437C>G | |
19 | g.11129583C>T | CA404099025 | LDLR | c.2718C>T (p.Ser906=) c.*529C>T (n.*529C>T) c.2340C>T (p.Ser780=) c.2460C>T (p.Ser820=) c.2714C>T c.1956C>T (p.Ser652=) c.2337C>T (p.Ser779=) c.1926C>T (p.Ser642=) c.2522C>T (p.Ala841Val) n.108+1929C>T c.2382C>T (p.Ser794=) c.2079C>T (p.Ser693=) n.2794C>T n.2437C>T | |
19 | g.11129584A>C | CA404099028 | LDLR | c.2719A>C (p.Ile907Leu) c.*530A>C (n.*530A>C) c.2341A>C (p.Ile781Leu) c.2461A>C (p.Ile821Leu) c.2715A>C c.1957A>C (p.Ile653Leu) c.2338A>C (p.Ile780Leu) c.1927A>C (p.Ile643Leu) c.2523A>C (p.Ala841=) n.108+1930A>C c.2383A>C (p.Ile795Leu) c.2080A>C (p.Ile694Leu) n.2795A>C n.2438A>C | |
19 | g.11129584A>G | CA404099035 | LDLR | c.2719A>G (p.Ile907Val) c.*530A>G (n.*530A>G) c.2341A>G (p.Ile781Val) c.2461A>G (p.Ile821Val) c.2715A>G c.1957A>G (p.Ile653Val) c.2338A>G (p.Ile780Val) c.1927A>G (p.Ile643Val) c.2523A>G (p.Ala841=) n.108+1930A>G c.2383A>G (p.Ile795Val) c.2080A>G (p.Ile694Val) n.2795A>G n.2438A>G | |
19 | g.11129584A>T | CA404099030 | LDLR | c.2719A>T (p.Ile907Phe) c.*530A>T (n.*530A>T) c.2341A>T (p.Ile781Phe) c.2461A>T (p.Ile821Phe) c.2715A>T c.1957A>T (p.Ile653Phe) c.2338A>T (p.Ile780Phe) c.1927A>T (p.Ile643Phe) c.2523A>T (p.Ala841=) n.108+1930A>T c.2383A>T (p.Ile795Phe) c.2080A>T (p.Ile694Phe) n.2795A>T n.2438A>T | |
19 | g.11129585T>A | CA404099039 | LDLR | c.2720T>A (p.Ile907Asn) c.*531T>A (n.*531T>A) c.2342T>A (p.Ile781Asn) c.2462T>A (p.Ile821Asn) c.2716T>A c.1958T>A (p.Ile653Asn) c.2339T>A (p.Ile780Asn) c.1928T>A (p.Ile643Asn) c.2524T>A (p.Ser842Thr) n.108+1931T>A c.2384T>A (p.Ile795Asn) c.2081T>A (p.Ile694Asn) n.2796T>A n.2439T>A | |
19 | g.11129585T>C | CA404099043 | LDLR | c.2720T>C (p.Ile907Thr) c.*531T>C (n.*531T>C) c.2342T>C (p.Ile781Thr) c.2462T>C (p.Ile821Thr) c.2716T>C c.1958T>C (p.Ile653Thr) c.2339T>C (p.Ile780Thr) c.1928T>C (p.Ile643Thr) c.2524T>C (p.Ser842Pro) n.108+1931T>C c.2384T>C (p.Ile795Thr) c.2081T>C (p.Ile694Thr) n.2796T>C n.2439T>C | |
19 | g.11129585T>G | CA404099047 | LDLR | c.2720T>G (p.Ile907Ser) c.*531T>G (n.*531T>G) c.2342T>G (p.Ile781Ser) c.2462T>G (p.Ile821Ser) c.2716T>G c.1958T>G (p.Ile653Ser) c.2339T>G (p.Ile780Ser) c.1928T>G (p.Ile643Ser) c.2524T>G (p.Ser842Ala) n.108+1931T>G c.2384T>G (p.Ile795Ser) c.2081T>G (p.Ile694Ser) n.2796T>G n.2439T>G | |
19 | g.11129586C>A | CA404099053 | LDLR | c.2721C>A (p.Ile907=) c.*532C>A (n.*532C>A) c.2343C>A (p.Ile781=) c.2463C>A (p.Ile821=) c.2717C>A c.1959C>A (p.Ile653=) c.2340C>A (p.Ile780=) c.1929C>A (p.Ile643=) c.2525C>A (p.Ser842Ter) n.108+1932C>A c.2385C>A (p.Ile795=) c.2082C>A (p.Ile694=) n.2797C>A n.2440C>A | |
19 | g.11129586C>G | CA404099056 | LDLR | c.2721C>G (p.Ile907Met) c.*532C>G (n.*532C>G) c.2343C>G (p.Ile781Met) c.2463C>G (p.Ile821Met) c.2717C>G c.1959C>G (p.Ile653Met) c.2340C>G (p.Ile780Met) c.1929C>G (p.Ile643Met) c.2525C>G (p.Ser842Ter) n.108+1932C>G c.2385C>G (p.Ile795Met) c.2082C>G (p.Ile694Met) n.2797C>G n.2440C>G | |
19 | g.11129586C>T | CA404099059 | LDLR | c.2721C>T (p.Ile907=) c.*532C>T (n.*532C>T) c.2343C>T (p.Ile781=) c.2463C>T (p.Ile821=) c.2717C>T c.1959C>T (p.Ile653=) c.2340C>T (p.Ile780=) c.1929C>T (p.Ile643=) c.2525C>T (p.Ser842Leu) n.108+1932C>T c.2385C>T (p.Ile795=) c.2082C>T (p.Ile694=) n.2797C>T n.2440C>T | |
19 | g.11129587A>C | CA404099069 | LDLR | c.2722A>C (p.Asn908His) c.*533A>C (n.*533A>C) c.2344A>C (p.Asn782His) c.2464A>C (p.Asn822His) c.2718A>C c.1960A>C (p.Asn654His) c.2341A>C (p.Asn781His) c.1930A>C (p.Asn644His) c.2526A>C (p.Ser842=) n.108+1933A>C c.2386A>C (p.Asn796His) c.2083A>C (p.Asn695His) n.2798A>C n.2441A>C | |
19 | g.11129587A>G | CA404099073 | LDLR | c.2722A>G (p.Asn908Asp) c.*533A>G (n.*533A>G) c.2344A>G (p.Asn782Asp) c.2464A>G (p.Asn822Asp) c.2718A>G c.1960A>G (p.Asn654Asp) c.2341A>G (p.Asn781Asp) c.1930A>G (p.Asn644Asp) c.2526A>G (p.Ser842=) n.108+1933A>G c.2386A>G (p.Asn796Asp) c.2083A>G (p.Asn695Asp) n.2798A>G n.2441A>G | |
19 | g.11129587A>T | CA404099077 | LDLR | c.2722A>T (p.Asn908Tyr) c.*533A>T (n.*533A>T) c.2344A>T (p.Asn782Tyr) c.2464A>T (p.Asn822Tyr) c.2718A>T c.1960A>T (p.Asn654Tyr) c.2341A>T (p.Asn781Tyr) c.1930A>T (p.Asn644Tyr) c.2526A>T (p.Ser842=) n.108+1933A>T c.2386A>T (p.Asn796Tyr) c.2083A>T (p.Asn695Tyr) n.2798A>T n.2441A>T | |
19 | g.11129588A>C | CA404099080 | LDLR | c.2723A>C (p.Asn908Thr) c.*534A>C (n.*534A>C) c.2345A>C (p.Asn782Thr) c.2465A>C (p.Asn822Thr) c.2719A>C c.1961A>C (p.Asn654Thr) c.2342A>C (p.Asn781Thr) c.1931A>C (p.Asn644Thr) c.2527A>C (p.Thr843Pro) n.108+1934A>C c.2387A>C (p.Asn796Thr) c.2084A>C (p.Asn695Thr) n.2799A>C n.2442A>C | |
19 | g.11129588A>G | CA404099084 | LDLR | c.2723A>G (p.Asn908Ser) c.*534A>G (n.*534A>G) c.2345A>G (p.Asn782Ser) c.2465A>G (p.Asn822Ser) c.2719A>G c.1961A>G (p.Asn654Ser) c.2342A>G (p.Asn781Ser) c.1931A>G (p.Asn644Ser) c.2527A>G (p.Thr843Ala) n.108+1934A>G c.2387A>G (p.Asn796Ser) c.2084A>G (p.Asn695Ser) n.2799A>G n.2442A>G | ClinVar |
19 | g.11129588A>T | CA404099086 | LDLR | c.2723A>T (p.Asn908Ile) c.*534A>T (n.*534A>T) c.2345A>T (p.Asn782Ile) c.2465A>T (p.Asn822Ile) c.2719A>T c.1961A>T (p.Asn654Ile) c.2342A>T (p.Asn781Ile) c.1931A>T (p.Asn644Ile) c.2527A>T (p.Thr843Ser) n.108+1934A>T c.2387A>T (p.Asn796Ile) c.2084A>T (p.Asn695Ile) n.2799A>T n.2442A>T | |
19 | g.11129589C>A | CA404099092 | LDLR | c.2724C>A (p.Asn908Lys) c.*535C>A (n.*535C>A) c.2346C>A (p.Asn782Lys) c.2466C>A (p.Asn822Lys) c.2720C>A c.1962C>A (p.Asn654Lys) c.2343C>A (p.Asn781Lys) c.1932C>A (p.Asn644Lys) c.2528C>A (p.Thr843Asn) n.108+1935C>A c.2388C>A (p.Asn796Lys) c.2085C>A (p.Asn695Lys) n.2800C>A n.2443C>A | |
19 | g.11129589C>G | CA404099107 | LDLR | c.2724C>G (p.Asn908Lys) c.*535C>G (n.*535C>G) c.2346C>G (p.Asn782Lys) c.2466C>G (p.Asn822Lys) c.2720C>G c.1962C>G (p.Asn654Lys) c.2343C>G (p.Asn781Lys) c.1932C>G (p.Asn644Lys) c.2528C>G (p.Thr843Ser) n.108+1935C>G c.2388C>G (p.Asn796Lys) c.2085C>G (p.Asn695Lys) n.2800C>G n.2443C>G | gnomAD v4 |
19 | g.11129589C>T | CA404099094 | LDLR | c.2724C>T (p.Asn908=) c.*535C>T (n.*535C>T) c.2346C>T (p.Asn782=) c.2466C>T (p.Asn822=) c.2720C>T c.1962C>T (p.Asn654=) c.2343C>T (p.Asn781=) c.1932C>T (p.Asn644=) c.2528C>T (p.Thr843Ile) n.108+1935C>T c.2388C>T (p.Asn796=) c.2085C>T (p.Asn695=) n.2800C>T n.2443C>T | ClinVar gnomAD v4 |
19 | g.11129590T>A | CA404099112 | LDLR | c.2725T>A (p.Phe909Ile) c.*536T>A (n.*536T>A) c.2347T>A (p.Phe783Ile) c.2467T>A (p.Phe823Ile) c.2721T>A c.1963T>A (p.Phe655Ile) c.2344T>A (p.Phe782Ile) c.1933T>A (p.Phe645Ile) c.2529T>A (p.Thr843=) n.108+1936T>A c.2389T>A (p.Phe797Ile) c.2086T>A (p.Phe696Ile) n.2801T>A n.2444T>A | |
19 | g.11129590T>C | CA404099114 | LDLR | c.2725T>C (p.Phe909Leu) c.*536T>C (n.*536T>C) c.2347T>C (p.Phe783Leu) c.2467T>C (p.Phe823Leu) c.2721T>C c.1963T>C (p.Phe655Leu) c.2344T>C (p.Phe782Leu) c.1933T>C (p.Phe645Leu) c.2529T>C (p.Thr843=) n.108+1936T>C c.2389T>C (p.Phe797Leu) c.2086T>C (p.Phe696Leu) n.2801T>C n.2444T>C | |
19 | g.11129590T>G | CA404099123 | LDLR | c.2725T>G (p.Phe909Val) c.*536T>G (n.*536T>G) c.2347T>G (p.Phe783Val) c.2467T>G (p.Phe823Val) c.2721T>G c.1963T>G (p.Phe655Val) c.2344T>G (p.Phe782Val) c.1933T>G (p.Phe645Val) c.2529T>G (p.Thr843=) n.108+1936T>G c.2389T>G (p.Phe797Val) c.2086T>G (p.Phe696Val) n.2801T>G n.2444T>G | |
19 | g.11129591T>A | CA404099127 | LDLR | c.2726T>A (p.Phe909Tyr) c.*537T>A (n.*537T>A) c.2348T>A (p.Phe783Tyr) c.2468T>A (p.Phe823Tyr) c.2722T>A c.1964T>A (p.Phe655Tyr) c.2345T>A (p.Phe782Tyr) c.1934T>A (p.Phe645Tyr) c.2530T>A (p.Leu844Met) n.108+1937T>A c.2390T>A (p.Phe797Tyr) c.2087T>A (p.Phe696Tyr) n.2802T>A n.2445T>A | |
19 | g.11129591T>C | CA404099130 | LDLR | c.2726T>C (p.Phe909Ser) c.*537T>C (n.*537T>C) c.2348T>C (p.Phe783Ser) c.2468T>C (p.Phe823Ser) c.2722T>C c.1964T>C (p.Phe655Ser) c.2345T>C (p.Phe782Ser) c.1934T>C (p.Phe645Ser) c.2530T>C (p.Leu844=) n.108+1937T>C c.2390T>C (p.Phe797Ser) c.2087T>C (p.Phe696Ser) n.2802T>C n.2445T>C | gnomAD v4 |
19 | g.11129591T>G | CA404099132 | LDLR | c.2726T>G (p.Phe909Cys) c.*537T>G (n.*537T>G) c.2348T>G (p.Phe783Cys) c.2468T>G (p.Phe823Cys) c.2722T>G c.1964T>G (p.Phe655Cys) c.2345T>G (p.Phe782Cys) c.1934T>G (p.Phe645Cys) c.2530T>G (p.Leu844Val) n.108+1937T>G c.2390T>G (p.Phe797Cys) c.2087T>G (p.Phe696Cys) n.2802T>G n.2445T>G | |
19 | g.11129592T>A | CA404099135 | LDLR | c.2727T>A (p.Phe909Leu) c.*538T>A (n.*538T>A) c.2349T>A (p.Phe783Leu) c.2469T>A (p.Phe823Leu) c.2723T>A c.1965T>A (p.Phe655Leu) c.2346T>A (p.Phe782Leu) c.1935T>A (p.Phe645Leu) c.2531T>A (p.Leu844Ter) n.108+1938T>A c.2391T>A (p.Phe797Leu) c.2088T>A (p.Phe696Leu) n.2803T>A n.2446T>A | |
19 | g.11129592T>C | CA305309120 | LDLR | c.2727T>C (p.Phe909=) c.*538T>C (n.*538T>C) c.2349T>C (p.Phe783=) c.2469T>C (p.Phe823=) c.2723T>C c.1965T>C (p.Phe655=) c.2346T>C (p.Phe782=) c.1935T>C (p.Phe645=) c.2531T>C (p.Leu844Ser) n.108+1938T>C c.2391T>C (p.Phe797=) c.2088T>C (p.Phe696=) n.2803T>C n.2446T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11129592T>G | CA404099141 | LDLR | c.2727T>G (p.Phe909Leu) c.*538T>G (n.*538T>G) c.2349T>G (p.Phe783Leu) c.2469T>G (p.Phe823Leu) c.2723T>G c.1965T>G (p.Phe655Leu) c.2346T>G (p.Phe782Leu) c.1935T>G (p.Phe645Leu) c.2531T>G (p.Leu844Trp) n.108+1938T>G c.2391T>G (p.Phe797Leu) c.2088T>G (p.Phe696Leu) n.2803T>G n.2446T>G | |
19 | g.11129592T= | CA2322780290 | LDLR | c.2727T= (p.Phe909=) c.*538T= (n.*538T=) c.2349T= (p.Phe783=) c.2469T= (p.Phe823=) c.2723T= c.1965T= (p.Phe655=) c.2346T= (p.Phe782=) c.1935T= (p.Phe645=) c.2531T= (p.Leu844=) n.108+1938T= c.2391T= (p.Phe797=) c.2088T= (p.Phe696=) n.2803T= n.2446T= | |
19 | g.11129593G>A | CA404099148 | LDLR | c.2728G>A (p.Asp910Asn) c.*539G>A (n.*539G>A) c.2350G>A (p.Asp784Asn) c.2470G>A (p.Asp824Asn) c.2724G>A c.1966G>A (p.Asp656Asn) c.2347G>A (p.Asp783Asn) c.1936G>A (p.Asp646Asn) c.2532G>A (p.Leu844=) n.108+1939G>A c.2392G>A (p.Asp798Asn) c.2089G>A (p.Asp697Asn) n.2804G>A n.2447G>A | |
19 | g.11129593G>C | CA404099152 | LDLR | c.2728G>C (p.Asp910His) c.*539G>C (n.*539G>C) c.2350G>C (p.Asp784His) c.2470G>C (p.Asp824His) c.2724G>C c.1966G>C (p.Asp656His) c.2347G>C (p.Asp783His) c.1936G>C (p.Asp646His) c.2532G>C (p.Leu844Phe) n.108+1939G>C c.2392G>C (p.Asp798His) c.2089G>C (p.Asp697His) n.2804G>C n.2447G>C | dbSNP |
19 | g.11129593G= | CA2322780291 | LDLR | c.2728G= (p.Asp910=) c.*539G= (n.*539G=) c.2350G= (p.Asp784=) c.2470G= (p.Asp824=) c.2724G= c.1966G= (p.Asp656=) c.2347G= (p.Asp783=) c.1936G= (p.Asp646=) c.2532G= (p.Leu844=) n.108+1939G= c.2392G= (p.Asp798=) c.2089G= (p.Asp697=) n.2804G= n.2447G= | |
19 | g.11129593G>T | CA404099154 | LDLR | c.2728G>T (p.Asp910Tyr) c.*539G>T (n.*539G>T) c.2350G>T (p.Asp784Tyr) c.2470G>T (p.Asp824Tyr) c.2724G>T c.1966G>T (p.Asp656Tyr) c.2347G>T (p.Asp783Tyr) c.1936G>T (p.Asp646Tyr) c.2532G>T (p.Leu844Phe) n.108+1939G>T c.2392G>T (p.Asp798Tyr) c.2089G>T (p.Asp697Tyr) n.2804G>T n.2447G>T | |
19 | g.11129594A>C | CA404099162 | LDLR | c.2729A>C (p.Asp910Ala) c.*540A>C (n.*540A>C) c.2351A>C (p.Asp784Ala) c.2471A>C (p.Asp824Ala) c.2725A>C c.1967A>C (p.Asp656Ala) c.2348A>C (p.Asp783Ala) c.1937A>C (p.Asp646Ala) c.2533A>C (p.Thr845Pro) n.108+1940A>C c.2393A>C (p.Asp798Ala) c.2090A>C (p.Asp697Ala) n.2805A>C n.2448A>C | |
19 | g.11129594A>G | CA404099163 | LDLR | c.2729A>G (p.Asp910Gly) c.*540A>G (n.*540A>G) c.2351A>G (p.Asp784Gly) c.2471A>G (p.Asp824Gly) c.2725A>G c.1967A>G (p.Asp656Gly) c.2348A>G (p.Asp783Gly) c.1937A>G (p.Asp646Gly) c.2533A>G (p.Thr845Ala) n.108+1940A>G c.2393A>G (p.Asp798Gly) c.2090A>G (p.Asp697Gly) n.2805A>G n.2448A>G | |
19 | g.11129594A>T | CA404099161 | LDLR | c.2729A>T (p.Asp910Val) c.*540A>T (n.*540A>T) c.2351A>T (p.Asp784Val) c.2471A>T (p.Asp824Val) c.2725A>T c.1967A>T (p.Asp656Val) c.2348A>T (p.Asp783Val) c.1937A>T (p.Asp646Val) c.2533A>T (p.Thr845Ser) n.108+1940A>T c.2393A>T (p.Asp798Val) c.2090A>T (p.Asp697Val) n.2805A>T n.2448A>T | |
19 | g.11129596_11129598del | CA2580613053 | LDLR | c.2731_2733del (p.Asn911del) c.*542_*544del (n.*542_*544del) c.2353_2355del (p.Asn785del) c.2473_2475del (p.Asn825del) c.2727_2729del c.1969_1971del (p.Asn657del) c.2350_2352del (p.Asn784del) c.1939_1941del (p.Asn647del) c.2535_2537del (p.Thr846del) n.108+1942_108+1944del c.2395_2397del (p.Asn799del) c.2092_2094del (p.Asn698del) n.2807_2809del n.2450_2452del | ClinVar |
19 | g.11129595C>A | CA404099164 | LDLR | c.2730C>A (p.Asp910Glu) c.*541C>A (n.*541C>A) c.2352C>A (p.Asp784Glu) c.2472C>A (p.Asp824Glu) c.2726C>A c.1968C>A (p.Asp656Glu) c.2349C>A (p.Asp783Glu) c.1938C>A (p.Asp646Glu) c.2534C>A (p.Thr845Lys) n.108+1941C>A c.2394C>A (p.Asp798Glu) c.2091C>A (p.Asp697Glu) n.2806C>A n.2449C>A | |
19 | g.11129595C= | CA2322780292 | LDLR | c.2730C= (p.Asp910=) c.*541C= (n.*541C=) c.2352C= (p.Asp784=) c.2472C= (p.Asp824=) c.2726C= c.1968C= (p.Asp656=) c.2349C= (p.Asp783=) c.1938C= (p.Asp646=) c.2534C= (p.Thr845=) n.108+1941C= c.2394C= (p.Asp798=) c.2091C= (p.Asp697=) n.2806C= n.2449C= | |
19 | g.11129595C>G | CA404099166 | LDLR | c.2730C>G (p.Asp910Glu) c.*541C>G (n.*541C>G) c.2352C>G (p.Asp784Glu) c.2472C>G (p.Asp824Glu) c.2726C>G c.1968C>G (p.Asp656Glu) c.2349C>G (p.Asp783Glu) c.1938C>G (p.Asp646Glu) c.2534C>G (p.Thr845Arg) n.108+1941C>G c.2394C>G (p.Asp798Glu) c.2091C>G (p.Asp697Glu) n.2806C>G n.2449C>G | |
19 | g.11129595C>T | CA404099168 | LDLR | c.2730C>T (p.Asp910=) c.*541C>T (n.*541C>T) c.2352C>T (p.Asp784=) c.2472C>T (p.Asp824=) c.2726C>T c.1968C>T (p.Asp656=) c.2349C>T (p.Asp783=) c.1938C>T (p.Asp646=) c.2534C>T (p.Thr845Ile) n.108+1941C>T c.2394C>T (p.Asp798=) c.2091C>T (p.Asp697=) n.2806C>T n.2449C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11129596A= | CA2322780293 | LDLR | c.2731A= (p.Asn911=) c.*542A= (n.*542A=) c.2353A= (p.Asn785=) c.2473A= (p.Asn825=) c.2727A= c.1969A= (p.Asn657=) c.2350A= (p.Asn784=) c.1939A= (p.Asn647=) c.2535A= (p.Thr845=) n.108+1942A= c.2395A= (p.Asn799=) c.2092A= (p.Asn698=) n.2807A= n.2450A= | |
19 | g.11129596A>C | CA404099169 | LDLR | c.2731A>C (p.Asn911His) c.*542A>C (n.*542A>C) c.2353A>C (p.Asn785His) c.2473A>C (p.Asn825His) c.2727A>C c.1969A>C (p.Asn657His) c.2350A>C (p.Asn784His) c.1939A>C (p.Asn647His) c.2535A>C (p.Thr845=) n.108+1942A>C c.2395A>C (p.Asn799His) c.2092A>C (p.Asn698His) n.2807A>C n.2450A>C | |
19 | g.11129596A>G | CA10585869 | LDLR | c.2731A>G (p.Asn911Asp) c.*542A>G (n.*542A>G) c.2353A>G (p.Asn785Asp) c.2473A>G (p.Asn825Asp) c.2727A>G c.1969A>G (p.Asn657Asp) c.2350A>G (p.Asn784Asp) c.1939A>G (p.Asn647Asp) c.2535A>G (p.Thr845=) n.108+1942A>G c.2395A>G (p.Asn799Asp) c.2092A>G (p.Asn698Asp) n.2807A>G n.2450A>G | ClinVar dbSNP |
19 | g.11129596A>T | CA404099173 | LDLR | c.2731A>T (p.Asn911Tyr) c.*542A>T (n.*542A>T) c.2353A>T (p.Asn785Tyr) c.2473A>T (p.Asn825Tyr) c.2727A>T c.1969A>T (p.Asn657Tyr) c.2350A>T (p.Asn784Tyr) c.1939A>T (p.Asn647Tyr) c.2535A>T (p.Thr845=) n.108+1942A>T c.2395A>T (p.Asn799Tyr) c.2092A>T (p.Asn698Tyr) n.2807A>T n.2450A>T | |
19 | g.11129597A>C | CA404099178 | LDLR | c.2732A>C (p.Asn911Thr) c.*543A>C (n.*543A>C) c.2354A>C (p.Asn785Thr) c.2474A>C (p.Asn825Thr) c.2728A>C c.1970A>C (p.Asn657Thr) c.2351A>C (p.Asn784Thr) c.1940A>C (p.Asn647Thr) c.2536A>C (p.Thr846Pro) n.108+1943A>C c.2396A>C (p.Asn799Thr) c.2093A>C (p.Asn698Thr) n.2808A>C n.2451A>C | |
19 | g.11129597A>G | CA404099182 | LDLR | c.2732A>G (p.Asn911Ser) c.*543A>G (n.*543A>G) c.2354A>G (p.Asn785Ser) c.2474A>G (p.Asn825Ser) c.2728A>G c.1970A>G (p.Asn657Ser) c.2351A>G (p.Asn784Ser) c.1940A>G (p.Asn647Ser) c.2536A>G (p.Thr846Ala) n.108+1943A>G c.2396A>G (p.Asn799Ser) c.2093A>G (p.Asn698Ser) n.2808A>G n.2451A>G | |
19 | g.11129597A>T | CA404099180 | LDLR | c.2732A>T (p.Asn911Ile) c.*543A>T (n.*543A>T) c.2354A>T (p.Asn785Ile) c.2474A>T (p.Asn825Ile) c.2728A>T c.1970A>T (p.Asn657Ile) c.2351A>T (p.Asn784Ile) c.1940A>T (p.Asn647Ile) c.2536A>T (p.Thr846Ser) n.108+1943A>T c.2396A>T (p.Asn799Ile) c.2093A>T (p.Asn698Ile) n.2808A>T n.2451A>T | |
19 | g.11129597_11129598delinsAC | CA2322780294 | LDLR | c.2732_2733delinsAC (p.Asn911=) c.*543_*544delinsAC (n.*543_*544delinsAC) c.2354_2355delinsAC (p.Asn785=) c.2474_2475delinsAC (p.Asn825=) c.2728_2729delinsAC c.1970_1971delinsAC (p.Asn657=) c.2351_2352delinsAC (p.Asn784=) c.1940_1941delinsAC (p.Asn647=) c.2536_2537delinsAC (p.Thr846=) n.108+1943_108+1944delinsAC c.2396_2397delinsAC (p.Asn799=) c.2093_2094delinsAC (p.Asn698=) n.2808_2809delinsAC n.2451_2452delinsAC | |
19 | g.11129598C>A | CA040801 | LDLR | c.2733C>A (p.Asn911Lys) c.*544C>A (n.*544C>A) c.2355C>A (p.Asn785Lys) c.2475C>A (p.Asn825Lys) c.2729C>A c.1971C>A (p.Asn657Lys) c.2352C>A (p.Asn784Lys) c.1941C>A (p.Asn647Lys) c.2537C>A (p.Thr846Asn) n.108+1944C>A c.2397C>A (p.Asn799Lys) c.2094C>A (p.Asn698Lys) n.2809C>A n.2452C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11129598C= | CA2322780295 | LDLR | c.2733C= (p.Asn911=) c.*544C= (n.*544C=) c.2355C= (p.Asn785=) c.2475C= (p.Asn825=) c.2729C= c.1971C= (p.Asn657=) c.2352C= (p.Asn784=) c.1941C= (p.Asn647=) c.2537C= (p.Thr846=) n.108+1944C= c.2397C= (p.Asn799=) c.2094C= (p.Asn698=) n.2809C= n.2452C= | |
19 | g.11129598C>G | CA023675 | LDLR | c.2733C>G (p.Asn911Lys) c.*544C>G (n.*544C>G) c.2355C>G (p.Asn785Lys) c.2475C>G (p.Asn825Lys) c.2729C>G c.1971C>G (p.Asn657Lys) c.2352C>G (p.Asn784Lys) c.1941C>G (p.Asn647Lys) c.2537C>G (p.Thr846Ser) n.108+1944C>G c.2397C>G (p.Asn799Lys) c.2094C>G (p.Asn698Lys) n.2809C>G n.2452C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11129598C>T | CA404099189 | LDLR | c.2733C>T (p.Asn911=) c.*544C>T (n.*544C>T) c.2355C>T (p.Asn785=) c.2475C>T (p.Asn825=) c.2729C>T c.1971C>T (p.Asn657=) c.2352C>T (p.Asn784=) c.1941C>T (p.Asn647=) c.2537C>T (p.Thr846Ile) n.108+1944C>T c.2397C>T (p.Asn799=) c.2094C>T (p.Asn698=) n.2809C>T n.2452C>T | |
19 | g.11129601dup | CA10585872 | LDLR | c.2736dup (p.Val913ArgfsTer9) c.*547dup (n.*547dup) c.2358dup (p.Val787ArgfsTer9) c.2478dup (p.Val827ArgfsTer9) c.2732dup c.1974dup (p.Val659ArgfsTer9) c.2355dup (p.Val786ArgfsTer9) c.1944dup (p.Val649ArgfsTer9) c.2540dup (p.Ser848ValfsTer?) n.108+1947dup c.2400dup (p.Val801ArgfsTer9) c.2097dup (p.Val700ArgfsTer9) n.2812dup n.2455dup | ClinVar dbSNP |
19 | g.11129601del | CA10585871 | LDLR | c.2736del (p.Val913SerfsTer?) c.*547del (n.*547del) c.2358del (p.Val787SerfsTer?) c.2478del (p.Val827SerfsTer?) c.2732del c.1974del (p.Val659SerfsTer?) c.2355del (p.Val786SerfsTer?) c.1944del (p.Val649SerfsTer?) c.2540del (p.Pro847ArgfsTer9) n.108+1947del c.2400del (p.Val801SerfsTer?) c.2097del (p.Val700SerfsTer?) n.2812del n.2455del | ClinVar dbSNP gnomAD v4 |
19 | g.11129599C>A | CA10585870 | LDLR | c.2734C>A (p.Pro912Thr) c.*545C>A (n.*545C>A) c.2356C>A (p.Pro786Thr) c.2476C>A (p.Pro826Thr) c.2730C>A c.1972C>A (p.Pro658Thr) c.2353C>A (p.Pro785Thr) c.1942C>A (p.Pro648Thr) c.2538C>A (p.Thr846=) n.108+1945C>A c.2398C>A (p.Pro800Thr) c.2095C>A (p.Pro699Thr) n.2810C>A n.2453C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11129599C= | CA2322780296 | LDLR | c.2734C= (p.Pro912=) c.*545C= (n.*545C=) c.2356C= (p.Pro786=) c.2476C= (p.Pro826=) c.2730C= c.1972C= (p.Pro658=) c.2353C= (p.Pro785=) c.1942C= (p.Pro648=) c.2538C= (p.Thr846=) n.108+1945C= c.2398C= (p.Pro800=) c.2095C= (p.Pro699=) n.2810C= n.2453C= | |
19 | g.11129599C>G | CA404099201 | LDLR | c.2734C>G (p.Pro912Ala) c.*545C>G (n.*545C>G) c.2356C>G (p.Pro786Ala) c.2476C>G (p.Pro826Ala) c.2730C>G c.1972C>G (p.Pro658Ala) c.2353C>G (p.Pro785Ala) c.1942C>G (p.Pro648Ala) c.2538C>G (p.Thr846=) n.108+1945C>G c.2398C>G (p.Pro800Ala) c.2095C>G (p.Pro699Ala) n.2810C>G n.2453C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11129599C>T | CA404099205 | LDLR | c.2734C>T (p.Pro912Ser) c.*545C>T (n.*545C>T) c.2356C>T (p.Pro786Ser) c.2476C>T (p.Pro826Ser) c.2730C>T c.1972C>T (p.Pro658Ser) c.2353C>T (p.Pro785Ser) c.1942C>T (p.Pro648Ser) c.2538C>T (p.Thr846=) n.108+1945C>T c.2398C>T (p.Pro800Ser) c.2095C>T (p.Pro699Ser) n.2810C>T n.2453C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11129600C>A | CA404099214 | LDLR | c.2735C>A (p.Pro912His) c.*546C>A (n.*546C>A) c.2357C>A (p.Pro786His) c.2477C>A (p.Pro826His) c.2731C>A c.1973C>A (p.Pro658His) c.2354C>A (p.Pro785His) c.1943C>A (p.Pro648His) c.2539C>A (p.Pro847Thr) n.108+1946C>A c.2399C>A (p.Pro800His) c.2096C>A (p.Pro699His) n.2811C>A n.2454C>A | |
19 | g.11129600C>G | CA404099210 | LDLR | c.2735C>G (p.Pro912Arg) c.*546C>G (n.*546C>G) c.2357C>G (p.Pro786Arg) c.2477C>G (p.Pro826Arg) c.2731C>G c.1973C>G (p.Pro658Arg) c.2354C>G (p.Pro785Arg) c.1943C>G (p.Pro648Arg) c.2539C>G (p.Pro847Ala) n.108+1946C>G c.2399C>G (p.Pro800Arg) c.2096C>G (p.Pro699Arg) n.2811C>G n.2454C>G | |
19 | g.11129600C>T | CA404099217 | LDLR | c.2735C>T (p.Pro912Leu) c.*546C>T (n.*546C>T) c.2357C>T (p.Pro786Leu) c.2477C>T (p.Pro826Leu) c.2731C>T c.1973C>T (p.Pro658Leu) c.2354C>T (p.Pro785Leu) c.1943C>T (p.Pro648Leu) c.2539C>T (p.Pro847Ser) n.108+1946C>T c.2399C>T (p.Pro800Leu) c.2096C>T (p.Pro699Leu) n.2811C>T n.2454C>T | |
19 | g.11129601C>A | CA404099236 | LDLR | c.2736C>A (p.Pro912=) c.*547C>A (n.*547C>A) c.2358C>A (p.Pro786=) c.2478C>A (p.Pro826=) c.2732C>A c.1974C>A (p.Pro658=) c.2355C>A (p.Pro785=) c.1944C>A (p.Pro648=) c.2540C>A (p.Pro847Gln) n.108+1947C>A c.2400C>A (p.Pro800=) c.2097C>A (p.Pro699=) n.2812C>A n.2455C>A | |
19 | g.11129601C= | CA2322780297 | LDLR | c.2736C= (p.Pro912=) c.*547C= (n.*547C=) c.2358C= (p.Pro786=) c.2478C= (p.Pro826=) c.2732C= c.1974C= (p.Pro658=) c.2355C= (p.Pro785=) c.1944C= (p.Pro648=) c.2540C= (p.Pro847=) n.108+1947C= c.2400C= (p.Pro800=) c.2097C= (p.Pro699=) n.2812C= n.2455C= | |
19 | g.11129601C>G | CA404099241 | LDLR | c.2736C>G (p.Pro912=) c.*547C>G (n.*547C>G) c.2358C>G (p.Pro786=) c.2478C>G (p.Pro826=) c.2732C>G c.1974C>G (p.Pro658=) c.2355C>G (p.Pro785=) c.1944C>G (p.Pro648=) c.2540C>G (p.Pro847Arg) n.108+1947C>G c.2400C>G (p.Pro800=) c.2097C>G (p.Pro699=) n.2812C>G n.2455C>G | ClinVar |
19 | g.11129601C>T | CA040824 | LDLR | c.2736C>T (p.Pro912=) c.*547C>T (n.*547C>T) c.2358C>T (p.Pro786=) c.2478C>T (p.Pro826=) c.2732C>T c.1974C>T (p.Pro658=) c.2355C>T (p.Pro785=) c.1944C>T (p.Pro648=) c.2540C>T (p.Pro847Leu) n.108+1947C>T c.2400C>T (p.Pro800=) c.2097C>T (p.Pro699=) n.2812C>T n.2455C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11129601_11129602insTTT | CA9204963 | LDLR | c.2736_2737insTTT (p.Pro912_Val913insPhe) c.*547_*548insTTT (n.*547_*548insTTT) c.2358_2359insTTT (p.Pro786_Val787insPhe) c.2478_2479insTTT (p.Pro826_Val827insPhe) c.2732_2733insTTT c.1974_1975insTTT (p.Pro658_Val659insPhe) c.2355_2356insTTT (p.Pro785_Val786insPhe) c.1944_1945insTTT (p.Pro648_Val649insPhe) c.2540_2541insTTT (p.Pro847_Ser848insLeu) n.108+1947_108+1948insTTT c.2400_2401insTTT (p.Pro800_Val801insPhe) c.2097_2098insTTT (p.Pro699_Val700insPhe) n.2812_2813insTTT n.2455_2456insTTT | dbSNP ExAC gnomAD v2 |
19 | g.11129602G>A | CA023677 | LDLR | c.2737G>A (p.Val913Ile) c.*548G>A (n.*548G>A) c.2359G>A (p.Val787Ile) c.2479G>A (p.Val827Ile) c.2733G>A c.1975G>A (p.Val659Ile) c.2356G>A (p.Val786Ile) c.1945G>A (p.Val649Ile) c.2541G>A (p.Pro847=) n.108+1948G>A c.2401G>A (p.Val801Ile) c.2098G>A (p.Val700Ile) n.2813G>A n.2456G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11129602G>C | CA404099245 | LDLR | c.2737G>C (p.Val913Leu) c.*548G>C (n.*548G>C) c.2359G>C (p.Val787Leu) c.2479G>C (p.Val827Leu) c.2733G>C c.1975G>C (p.Val659Leu) c.2356G>C (p.Val786Leu) c.1945G>C (p.Val649Leu) c.2541G>C (p.Pro847=) n.108+1948G>C c.2401G>C (p.Val801Leu) c.2098G>C (p.Val700Leu) n.2813G>C n.2456G>C | |
19 | g.11129602G= | CA2322780298 | LDLR | c.2737G= (p.Val913=) c.*548G= (n.*548G=) c.2359G= (p.Val787=) c.2479G= (p.Val827=) c.2733G= c.1975G= (p.Val659=) c.2356G= (p.Val786=) c.1945G= (p.Val649=) c.2541G= (p.Pro847=) n.108+1948G= c.2401G= (p.Val801=) c.2098G= (p.Val700=) n.2813G= n.2456G= | |
19 | g.11129602G>T | CA16602353 | LDLR | c.2737G>T (p.Val913Phe) c.*548G>T (n.*548G>T) c.2359G>T (p.Val787Phe) c.2479G>T (p.Val827Phe) c.2733G>T c.1975G>T (p.Val659Phe) c.2356G>T (p.Val786Phe) c.1945G>T (p.Val649Phe) c.2541G>T (p.Pro847=) n.108+1948G>T c.2401G>T (p.Val801Phe) c.2098G>T (p.Val700Phe) n.2813G>T n.2456G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11129603T>A | CA404099252 | LDLR | c.2738T>A (p.Val913Asp) c.*549T>A (n.*549T>A) c.2360T>A (p.Val787Asp) c.2480T>A (p.Val827Asp) c.2734T>A c.1976T>A (p.Val659Asp) c.2357T>A (p.Val786Asp) c.1946T>A (p.Val649Asp) c.2542T>A (p.Ser848Thr) n.108+1949T>A c.2402T>A (p.Val801Asp) c.2099T>A (p.Val700Asp) n.2814T>A n.2457T>A | ClinVar dbSNP |
19 | g.11129603T>C | CA404099255 | LDLR | c.2738T>C (p.Val913Ala) c.*549T>C (n.*549T>C) c.2360T>C (p.Val787Ala) c.2480T>C (p.Val827Ala) c.2734T>C c.1976T>C (p.Val659Ala) c.2357T>C (p.Val786Ala) c.1946T>C (p.Val649Ala) c.2542T>C (p.Ser848Pro) n.108+1949T>C c.2402T>C (p.Val801Ala) c.2099T>C (p.Val700Ala) n.2814T>C n.2457T>C | |
19 | g.11129603T>G | CA404099257 | LDLR | c.2738T>G (p.Val913Gly) c.*549T>G (n.*549T>G) c.2360T>G (p.Val787Gly) c.2480T>G (p.Val827Gly) c.2734T>G c.1976T>G (p.Val659Gly) c.2357T>G (p.Val786Gly) c.1946T>G (p.Val649Gly) c.2542T>G (p.Ser848Ala) n.108+1949T>G c.2402T>G (p.Val801Gly) c.2099T>G (p.Val700Gly) n.2814T>G n.2457T>G | |
19 | g.11129603T= | CA2322780299 | LDLR | c.2738T= (p.Val913=) c.*549T= (n.*549T=) c.2360T= (p.Val787=) c.2480T= (p.Val827=) c.2734T= c.1976T= (p.Val659=) c.2357T= (p.Val786=) c.1946T= (p.Val649=) c.2542T= (p.Ser848=) n.108+1949T= c.2402T= (p.Val801=) c.2099T= (p.Val700=) n.2814T= n.2457T= | |
19 | g.11129604C>A | CA404099269 | LDLR | c.2739C>A (p.Val913=) c.*550C>A (n.*550C>A) c.2361C>A (p.Val787=) c.2481C>A (p.Val827=) c.2735C>A c.1977C>A (p.Val659=) c.2358C>A (p.Val786=) c.1947C>A (p.Val649=) c.2543C>A (p.Ser848Tyr) n.108+1950C>A c.2403C>A (p.Val801=) c.2100C>A (p.Val700=) n.2815C>A n.2458C>A | |
19 | g.11129604C= | CA2322780300 | LDLR | c.2739C= (p.Val913=) c.*550C= (n.*550C=) c.2361C= (p.Val787=) c.2481C= (p.Val827=) c.2735C= c.1977C= (p.Val659=) c.2358C= (p.Val786=) c.1947C= (p.Val649=) c.2543C= (p.Ser848=) n.108+1950C= c.2403C= (p.Val801=) c.2100C= (p.Val700=) n.2815C= n.2458C= | |
19 | g.11129604C>G | CA404099264 | LDLR | c.2739C>G (p.Val913=) c.*550C>G (n.*550C>G) c.2361C>G (p.Val787=) c.2481C>G (p.Val827=) c.2735C>G c.1977C>G (p.Val659=) c.2358C>G (p.Val786=) c.1947C>G (p.Val649=) c.2543C>G (p.Ser848Cys) n.108+1950C>G c.2403C>G (p.Val801=) c.2100C>G (p.Val700=) n.2815C>G n.2458C>G | |
19 | g.11129604C>T | CA040869 | LDLR | c.2739C>T (p.Val913=) c.*550C>T (n.*550C>T) c.2361C>T (p.Val787=) c.2481C>T (p.Val827=) c.2735C>T c.1977C>T (p.Val659=) c.2358C>T (p.Val786=) c.1947C>T (p.Val649=) c.2543C>T (p.Ser848Phe) n.108+1950C>T c.2403C>T (p.Val801=) c.2100C>T (p.Val700=) n.2815C>T n.2458C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11129604_11129605insAACTTCTGACAAC | CA040853 | LDLR | c.2739_2740insAACTTCTGACAAC (p.Tyr914AsnfsTer3) c.*550_*551insAACTTCTGACAAC (n.*550_*551insAACTTCTGACAAC) c.2361_2362insAACTTCTGACAAC (p.Tyr788AsnfsTer3) c.2481_2482insAACTTCTGACAAC (p.Tyr828AsnfsTer3) c.2735_2736insAACTTCTGACAAC c.1977_1978insAACTTCTGACAAC (p.Tyr660AsnfsTer3) c.2358_2359insAACTTCTGACAAC (p.Tyr787AsnfsTer3) c.1947_1948insAACTTCTGACAAC (p.Tyr650AsnfsTer3) c.2543_2544insAACTTCTGACAAC (p.Ile849ThrfsTer?) n.108+1950_108+1951insAACTTCTGACAAC c.2403_2404insAACTTCTGACAAC (p.Tyr802AsnfsTer3) c.2100_2101insAACTTCTGACAAC (p.Tyr701AsnfsTer3) n.2815_2816insAACTTCTGACAAC n.2458_2459insAACTTCTGACAAC | dbSNP ExAC gnomAD v2 |
19 | g.11129605T>A | CA404099277 | LDLR | c.2740T>A (p.Tyr914Asn) c.*551T>A (n.*551T>A) c.2362T>A (p.Tyr788Asn) c.2482T>A (p.Tyr828Asn) c.2736T>A c.1978T>A (p.Tyr660Asn) c.2359T>A (p.Tyr787Asn) c.1948T>A (p.Tyr650Asn) c.2544T>A (p.Ser848=) n.108+1951T>A c.2404T>A (p.Tyr802Asn) c.2101T>A (p.Tyr701Asn) n.2816T>A n.2459T>A | |
19 | g.11129605T>C | CA10585873 | LDLR | c.2740T>C (p.Tyr914His) c.*551T>C (n.*551T>C) c.2362T>C (p.Tyr788His) c.2482T>C (p.Tyr828His) c.2736T>C c.1978T>C (p.Tyr660His) c.2359T>C (p.Tyr787His) c.1948T>C (p.Tyr650His) c.2544T>C (p.Ser848=) n.108+1951T>C c.2404T>C (p.Tyr802His) c.2101T>C (p.Tyr701His) n.2816T>C n.2459T>C | ClinVar dbSNP |
19 | g.11129605T>G | CA404099293 | LDLR | c.2740T>G (p.Tyr914Asp) c.*551T>G (n.*551T>G) c.2362T>G (p.Tyr788Asp) c.2482T>G (p.Tyr828Asp) c.2736T>G c.1978T>G (p.Tyr660Asp) c.2359T>G (p.Tyr787Asp) c.1948T>G (p.Tyr650Asp) c.2544T>G (p.Ser848=) n.108+1951T>G c.2404T>G (p.Tyr802Asp) c.2101T>G (p.Tyr701Asp) n.2816T>G n.2459T>G | |
19 | g.11129605T= | CA2322780301 | LDLR | c.2740T= (p.Tyr914=) c.*551T= (n.*551T=) c.2362T= (p.Tyr788=) c.2482T= (p.Tyr828=) c.2736T= c.1978T= (p.Tyr660=) c.2359T= (p.Tyr787=) c.1948T= (p.Tyr650=) c.2544T= (p.Ser848=) n.108+1951T= c.2404T= (p.Tyr802=) c.2101T= (p.Tyr701=) n.2816T= n.2459T= | |
19 | g.11129605dup | CA16602354 | LDLR | c.2740dup (p.Tyr914LeufsTer8) c.*551dup (n.*551dup) c.2362dup (p.Tyr788LeufsTer8) c.2482dup (p.Tyr828LeufsTer8) c.2736dup c.1978dup (p.Tyr660LeufsTer8) c.2359dup (p.Tyr787LeufsTer8) c.1948dup (p.Tyr650LeufsTer8) c.2544dup (p.Ile849TyrfsTer?) n.108+1951dup c.2404dup (p.Tyr802LeufsTer8) c.2101dup (p.Tyr701LeufsTer8) n.2816dup n.2459dup | ClinVar dbSNP |
19 | g.11129606del | CA2497030107 | LDLR | c.2741del (p.Tyr914PhefsTer?) c.*552del (n.*552del) c.2363del (p.Tyr788PhefsTer?) c.2483del (p.Tyr828PhefsTer?) c.2737del c.1979del (p.Tyr660PhefsTer?) c.2360del (p.Tyr787PhefsTer?) c.1949del (p.Tyr650PhefsTer?) c.2545del (p.Ile849SerfsTer7) n.108+1952del c.2405del (p.Tyr802PhefsTer?) c.2102del (p.Tyr701PhefsTer?) n.2817del n.2460del | |
19 | g.11129606A= | CA2322780302 | LDLR | c.2741A= (p.Tyr914=) c.*552A= (n.*552A=) c.2363A= (p.Tyr788=) c.2483A= (p.Tyr828=) c.2737A= c.1979A= (p.Tyr660=) c.2360A= (p.Tyr787=) c.1949A= (p.Tyr650=) c.2545A= (p.Ile849=) n.108+1952A= c.2405A= (p.Tyr802=) c.2102A= (p.Tyr701=) n.2817A= n.2460A= | |
19 | g.11129606A>C | CA10576335 | LDLR | c.2741A>C (p.Tyr914Ser) c.*552A>C (n.*552A>C) c.2363A>C (p.Tyr788Ser) c.2483A>C (p.Tyr828Ser) c.2737A>C c.1979A>C (p.Tyr660Ser) c.2360A>C (p.Tyr787Ser) c.1949A>C (p.Tyr650Ser) c.2545A>C (p.Ile849Leu) n.108+1952A>C c.2405A>C (p.Tyr802Ser) c.2102A>C (p.Tyr701Ser) n.2817A>C n.2460A>C | ClinVar dbSNP gnomAD v4 |
19 | g.11129606A>G | CA023679 | LDLR | c.2741A>G (p.Tyr914Cys) c.*552A>G (n.*552A>G) c.2363A>G (p.Tyr788Cys) c.2483A>G (p.Tyr828Cys) c.2737A>G c.1979A>G (p.Tyr660Cys) c.2360A>G (p.Tyr787Cys) c.1949A>G (p.Tyr650Cys) c.2545A>G (p.Ile849Val) n.108+1952A>G c.2405A>G (p.Tyr802Cys) c.2102A>G (p.Tyr701Cys) n.2817A>G n.2460A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11129606A>T | CA404099295 | LDLR | c.2741A>T (p.Tyr914Phe) c.*552A>T (n.*552A>T) c.2363A>T (p.Tyr788Phe) c.2483A>T (p.Tyr828Phe) c.2737A>T c.1979A>T (p.Tyr660Phe) c.2360A>T (p.Tyr787Phe) c.1949A>T (p.Tyr650Phe) c.2545A>T (p.Ile849Phe) n.108+1952A>T c.2405A>T (p.Tyr802Phe) c.2102A>T (p.Tyr701Phe) n.2817A>T n.2460A>T | |
19 | g.11129607T>A | CA404099297 | LDLR | c.2742T>A (p.Tyr914Ter) c.*553T>A (n.*553T>A) c.2364T>A (p.Tyr788Ter) c.2484T>A (p.Tyr828Ter) c.2738T>A c.1980T>A (p.Tyr660Ter) c.2361T>A (p.Tyr787Ter) c.1950T>A (p.Tyr650Ter) c.2546T>A (p.Ile849Asn) n.108+1953T>A c.2406T>A (p.Tyr802Ter) c.2103T>A (p.Tyr701Ter) n.2818T>A n.2461T>A | |
19 | g.11129607T>C | CA404099298 | LDLR | c.2742T>C (p.Tyr914=) c.*553T>C (n.*553T>C) c.2364T>C (p.Tyr788=) c.2484T>C (p.Tyr828=) c.2738T>C c.1980T>C (p.Tyr660=) c.2361T>C (p.Tyr787=) c.1950T>C (p.Tyr650=) c.2546T>C (p.Ile849Thr) n.108+1953T>C c.2406T>C (p.Tyr802=) c.2103T>C (p.Tyr701=) n.2818T>C n.2461T>C | |
19 | g.11129607T>G | CA404099315 | LDLR | c.2742T>G (p.Tyr914Ter) c.*553T>G (n.*553T>G) c.2364T>G (p.Tyr788Ter) c.2484T>G (p.Tyr828Ter) c.2738T>G c.1980T>G (p.Tyr660Ter) c.2361T>G (p.Tyr787Ter) c.1950T>G (p.Tyr650Ter) c.2546T>G (p.Ile849Ser) n.108+1953T>G c.2406T>G (p.Tyr802Ter) c.2103T>G (p.Tyr701Ter) n.2818T>G n.2461T>G | |
19 | g.11129608C>A | CA404099331 | LDLR | c.2743C>A (p.Gln915Lys) c.*554C>A (n.*554C>A) c.2365C>A (p.Gln789Lys) c.2485C>A (p.Gln829Lys) c.2739C>A c.1981C>A (p.Gln661Lys) c.2362C>A (p.Gln788Lys) c.1951C>A (p.Gln651Lys) c.2547C>A (p.Ile849=) n.108+1954C>A c.2407C>A (p.Gln803Lys) c.2104C>A (p.Gln702Lys) n.2819C>A n.2462C>A | |
19 | g.11129608C= | CA2322780303 | LDLR | c.2743C= (p.Gln915=) c.*554C= (n.*554C=) c.2365C= (p.Gln789=) c.2485C= (p.Gln829=) c.2739C= c.1981C= (p.Gln661=) c.2362C= (p.Gln788=) c.1951C= (p.Gln651=) c.2547C= (p.Ile849=) n.108+1954C= c.2407C= (p.Gln803=) c.2104C= (p.Gln702=) n.2819C= n.2462C= | |
19 | g.11129608C>G | CA404099326 | LDLR | c.2743C>G (p.Gln915Glu) c.*554C>G (n.*554C>G) c.2365C>G (p.Gln789Glu) c.2485C>G (p.Gln829Glu) c.2739C>G c.1981C>G (p.Gln661Glu) c.2362C>G (p.Gln788Glu) c.1951C>G (p.Gln651Glu) c.2547C>G (p.Ile849Met) n.108+1954C>G c.2407C>G (p.Gln803Glu) c.2104C>G (p.Gln702Glu) n.2819C>G n.2462C>G | |
19 | g.11129608C>T | CA404099321 | LDLR | c.2743C>T (p.Gln915Ter) c.*554C>T (n.*554C>T) c.2365C>T (p.Gln789Ter) c.2485C>T (p.Gln829Ter) c.2739C>T c.1981C>T (p.Gln661Ter) c.2362C>T (p.Gln788Ter) c.1951C>T (p.Gln651Ter) c.2547C>T (p.Ile849=) n.108+1954C>T c.2407C>T (p.Gln803Ter) c.2104C>T (p.Gln702Ter) n.2819C>T n.2462C>T | ClinVar dbSNP |
19 | g.11129609A>C | CA404099341 | LDLR | c.2744A>C (p.Gln915Pro) c.*555A>C (n.*555A>C) c.2366A>C (p.Gln789Pro) c.2486A>C (p.Gln829Pro) c.2740A>C c.1982A>C (p.Gln661Pro) c.2363A>C (p.Gln788Pro) c.1952A>C (p.Gln651Pro) c.2548A>C (p.Arg850=) n.108+1955A>C c.2408A>C (p.Gln803Pro) c.2105A>C (p.Gln702Pro) n.2820A>C n.2463A>C | |
19 | g.11129609A>G | CA404099343 | LDLR | c.2744A>G (p.Gln915Arg) c.*555A>G (n.*555A>G) c.2366A>G (p.Gln789Arg) c.2486A>G (p.Gln829Arg) c.2740A>G c.1982A>G (p.Gln661Arg) c.2363A>G (p.Gln788Arg) c.1952A>G (p.Gln651Arg) c.2548A>G (p.Arg850Gly) n.108+1955A>G c.2408A>G (p.Gln803Arg) c.2105A>G (p.Gln702Arg) n.2820A>G n.2463A>G | |
19 | g.11129609A>T | CA404099346 | LDLR | c.2744A>T (p.Gln915Leu) c.*555A>T (n.*555A>T) c.2366A>T (p.Gln789Leu) c.2486A>T (p.Gln829Leu) c.2740A>T c.1982A>T (p.Gln661Leu) c.2363A>T (p.Gln788Leu) c.1952A>T (p.Gln651Leu) c.2548A>T (p.Arg850Ter) n.108+1955A>T c.2408A>T (p.Gln803Leu) c.2105A>T (p.Gln702Leu) n.2820A>T n.2463A>T | gnomAD v4 |
19 | g.11129610G>A | CA404099352 | LDLR | c.2745G>A (p.Gln915=) c.*556G>A (n.*556G>A) c.2367G>A (p.Gln789=) c.2487G>A (p.Gln829=) c.2741G>A c.1983G>A (p.Gln661=) c.2364G>A (p.Gln788=) c.1953G>A (p.Gln651=) c.2549G>A (p.Arg850Lys) n.108+1956G>A c.2409G>A (p.Gln803=) c.2106G>A (p.Gln702=) n.2821G>A n.2464G>A | |
19 | g.11129610G>C | CA404099353 | LDLR | c.2745G>C (p.Gln915His) c.*556G>C (n.*556G>C) c.2367G>C (p.Gln789His) c.2487G>C (p.Gln829His) c.2741G>C c.1983G>C (p.Gln661His) c.2364G>C (p.Gln788His) c.1953G>C (p.Gln651His) c.2549G>C (p.Arg850Thr) n.108+1956G>C c.2409G>C (p.Gln803His) c.2106G>C (p.Gln702His) n.2821G>C n.2464G>C | ClinVar dbSNP |
19 | g.11129610G>T | CA404099355 | LDLR | c.2745G>T (p.Gln915His) c.*556G>T (n.*556G>T) c.2367G>T (p.Gln789His) c.2487G>T (p.Gln829His) c.2741G>T c.1983G>T (p.Gln661His) c.2364G>T (p.Gln788His) c.1953G>T (p.Gln651His) c.2549G>T (p.Arg850Ile) n.108+1956G>T c.2409G>T (p.Gln803His) c.2106G>T (p.Gln702His) n.2821G>T n.2464G>T | |
19 | g.11129611A>C | CA404099361 | LDLR | c.2746A>C (p.Lys916Gln) c.*557A>C (n.*557A>C) c.2368A>C (p.Lys790Gln) c.2488A>C (p.Lys830Gln) c.2742A>C c.1984A>C (p.Lys662Gln) c.2365A>C (p.Lys789Gln) c.1954A>C (p.Lys652Gln) c.2550A>C (p.Arg850Ser) n.108+1957A>C c.2410A>C (p.Lys804Gln) c.2107A>C (p.Lys703Gln) n.2822A>C n.2465A>C | |
19 | g.11129611A>G | CA404099372 | LDLR | c.2746A>G (p.Lys916Glu) c.*557A>G (n.*557A>G) c.2368A>G (p.Lys790Glu) c.2488A>G (p.Lys830Glu) c.2742A>G c.1984A>G (p.Lys662Glu) c.2365A>G (p.Lys789Glu) c.1954A>G (p.Lys652Glu) c.2550A>G (p.Arg850=) n.108+1957A>G c.2410A>G (p.Lys804Glu) c.2107A>G (p.Lys703Glu) n.2822A>G n.2465A>G | |
19 | g.11129611A>T | CA404099375 | LDLR | c.2746A>T (p.Lys916Ter) c.*557A>T (n.*557A>T) c.2368A>T (p.Lys790Ter) c.2488A>T (p.Lys830Ter) c.2742A>T c.1984A>T (p.Lys662Ter) c.2365A>T (p.Lys789Ter) c.1954A>T (p.Lys652Ter) c.2550A>T (p.Arg850Ser) n.108+1957A>T c.2410A>T (p.Lys804Ter) c.2107A>T (p.Lys703Ter) n.2822A>T n.2465A>T | ClinVar dbSNP |
19 | g.11129612A>C | CA404099377 | LDLR | c.2747A>C (p.Lys916Thr) c.*558A>C (n.*558A>C) c.2369A>C (p.Lys790Thr) c.2489A>C (p.Lys830Thr) c.2743A>C c.1985A>C (p.Lys662Thr) c.2366A>C (p.Lys789Thr) c.1955A>C (p.Lys652Thr) c.2551A>C (p.Arg851=) n.108+1958A>C c.2411A>C (p.Lys804Thr) c.2108A>C (p.Lys703Thr) n.2823A>C n.2466A>C | |
19 | g.11129612A>G | CA404099380 | LDLR | c.2747A>G (p.Lys916Arg) c.*558A>G (n.*558A>G) c.2369A>G (p.Lys790Arg) c.2489A>G (p.Lys830Arg) c.2743A>G c.1985A>G (p.Lys662Arg) c.2366A>G (p.Lys789Arg) c.1955A>G (p.Lys652Arg) c.2551A>G (p.Arg851Gly) n.108+1958A>G c.2411A>G (p.Lys804Arg) c.2108A>G (p.Lys703Arg) n.2823A>G n.2466A>G | |
19 | g.11129612A>T | CA404099382 | LDLR | c.2747A>T (p.Lys916Met) c.*558A>T (n.*558A>T) c.2369A>T (p.Lys790Met) c.2489A>T (p.Lys830Met) c.2743A>T c.1985A>T (p.Lys662Met) c.2366A>T (p.Lys789Met) c.1955A>T (p.Lys652Met) c.2551A>T (p.Arg851Ter) n.108+1958A>T c.2411A>T (p.Lys804Met) c.2108A>T (p.Lys703Met) n.2823A>T n.2466A>T | |
19 | g.11129613G>A | CA404099392 | LDLR | c.2748G>A (p.Lys916=) c.*559G>A (n.*559G>A) c.2370G>A (p.Lys790=) c.2490G>A (p.Lys830=) c.2744G>A c.1986G>A (p.Lys662=) c.2367G>A (p.Lys789=) c.1956G>A (p.Lys652=) c.2552G>A (p.Arg851Lys) n.108+1959G>A c.2412G>A (p.Lys804=) c.2109G>A (p.Lys703=) n.2824G>A n.2467G>A | ClinVar gnomAD v4 |
19 | g.11129613G>C | CA404099388 | LDLR | c.2748G>C (p.Lys916Asn) c.*559G>C (n.*559G>C) c.2370G>C (p.Lys790Asn) c.2490G>C (p.Lys830Asn) c.2744G>C c.1986G>C (p.Lys662Asn) c.2367G>C (p.Lys789Asn) c.1956G>C (p.Lys652Asn) c.2552G>C (p.Arg851Thr) n.108+1959G>C c.2412G>C (p.Lys804Asn) c.2109G>C (p.Lys703Asn) n.2824G>C n.2467G>C | |
19 | g.11129613G>T | CA404099389 | LDLR | c.2748G>T (p.Lys916Asn) c.*559G>T (n.*559G>T) c.2370G>T (p.Lys790Asn) c.2490G>T (p.Lys830Asn) c.2744G>T c.1986G>T (p.Lys662Asn) c.2367G>T (p.Lys789Asn) c.1956G>T (p.Lys652Asn) c.2552G>T (p.Arg851Ile) n.108+1959G>T c.2412G>T (p.Lys804Asn) c.2109G>T (p.Lys703Asn) n.2824G>T n.2467G>T | |
19 | g.11129614A>C | CA404099399 | LDLR | c.2749A>C (p.Thr917Pro) c.*560A>C (n.*560A>C) c.2371A>C (p.Thr791Pro) c.2491A>C (p.Thr831Pro) c.2745A>C c.1987A>C (p.Thr663Pro) c.2368A>C (p.Thr790Pro) c.1957A>C (p.Thr653Pro) c.2553A>C (p.Arg851Ser) n.108+1960A>C c.2413A>C (p.Thr805Pro) c.2110A>C (p.Thr704Pro) n.2825A>C n.2468A>C | |
19 | g.11129614A>G | CA404099408 | LDLR | c.2749A>G (p.Thr917Ala) c.*560A>G (n.*560A>G) c.2371A>G (p.Thr791Ala) c.2491A>G (p.Thr831Ala) c.2745A>G c.1987A>G (p.Thr663Ala) c.2368A>G (p.Thr790Ala) c.1957A>G (p.Thr653Ala) c.2553A>G (p.Arg851=) n.108+1960A>G c.2413A>G (p.Thr805Ala) c.2110A>G (p.Thr704Ala) n.2825A>G n.2468A>G | gnomAD v4 |
19 | g.11129614A>T | CA404099411 | LDLR | c.2749A>T (p.Thr917Ser) c.*560A>T (n.*560A>T) c.2371A>T (p.Thr791Ser) c.2491A>T (p.Thr831Ser) c.2745A>T c.1987A>T (p.Thr663Ser) c.2368A>T (p.Thr790Ser) c.1957A>T (p.Thr653Ser) c.2553A>T (p.Arg851Ser) n.108+1960A>T c.2413A>T (p.Thr805Ser) c.2110A>T (p.Thr704Ser) n.2825A>T n.2468A>T | |
19 | g.11129615C>A | CA404099413 | LDLR | c.2750C>A (p.Thr917Asn) c.*561C>A (n.*561C>A) c.2372C>A (p.Thr791Asn) c.2492C>A (p.Thr831Asn) c.2746C>A c.1988C>A (p.Thr663Asn) c.2369C>A (p.Thr790Asn) c.1958C>A (p.Thr653Asn) c.2554C>A (p.Pro852Thr) n.108+1961C>A c.2414C>A (p.Thr805Asn) c.2111C>A (p.Thr704Asn) n.2826C>A n.2469C>A | |
19 | g.11129615C>G | CA404099414 | LDLR | c.2750C>G (p.Thr917Ser) c.*561C>G (n.*561C>G) c.2372C>G (p.Thr791Ser) c.2492C>G (p.Thr831Ser) c.2746C>G c.1988C>G (p.Thr663Ser) c.2369C>G (p.Thr790Ser) c.1958C>G (p.Thr653Ser) c.2554C>G (p.Pro852Ala) n.108+1961C>G c.2414C>G (p.Thr805Ser) c.2111C>G (p.Thr704Ser) n.2826C>G n.2469C>G | |
19 | g.11129615C>T | CA404099415 | LDLR | c.2750C>T (p.Thr917Ile) c.*561C>T (n.*561C>T) c.2372C>T (p.Thr791Ile) c.2492C>T (p.Thr831Ile) c.2746C>T c.1988C>T (p.Thr663Ile) c.2369C>T (p.Thr790Ile) c.1958C>T (p.Thr653Ile) c.2554C>T (p.Pro852Ser) n.108+1961C>T c.2414C>T (p.Thr805Ile) c.2111C>T (p.Thr704Ile) n.2826C>T n.2469C>T | |
19 | g.11129616C>A | CA404099416 | LDLR | c.2751C>A (p.Thr917=) c.*562C>A (n.*562C>A) c.2373C>A (p.Thr791=) c.2493C>A (p.Thr831=) c.2747C>A c.1989C>A (p.Thr663=) c.2370C>A (p.Thr790=) c.1959C>A (p.Thr653=) c.2555C>A (p.Pro852Gln) n.108+1962C>A c.2415C>A (p.Thr805=) c.2112C>A (p.Thr704=) n.2827C>A n.2470C>A | |
19 | g.11129616C>G | CA404099418 | LDLR | c.2751C>G (p.Thr917=) c.*562C>G (n.*562C>G) c.2373C>G (p.Thr791=) c.2493C>G (p.Thr831=) c.2747C>G c.1989C>G (p.Thr663=) c.2370C>G (p.Thr790=) c.1959C>G (p.Thr653=) c.2555C>G (p.Pro852Arg) n.108+1962C>G c.2415C>G (p.Thr805=) c.2112C>G (p.Thr704=) n.2827C>G n.2470C>G | |
19 | g.11129616C>T | CA404099423 | LDLR | c.2751C>T (p.Thr917=) c.*562C>T (n.*562C>T) c.2373C>T (p.Thr791=) c.2493C>T (p.Thr831=) c.2747C>T c.1989C>T (p.Thr663=) c.2370C>T (p.Thr790=) c.1959C>T (p.Thr653=) c.2555C>T (p.Pro852Leu) n.108+1962C>T c.2415C>T (p.Thr805=) c.2112C>T (p.Thr704=) n.2827C>T n.2470C>T | gnomAD v4 COSMIC |
19 | g.11129617A>C | CA404099425 | LDLR | c.2752A>C (p.Thr918Pro) c.*563A>C (n.*563A>C) c.2374A>C (p.Thr792Pro) c.2494A>C (p.Thr832Pro) c.2748A>C c.1990A>C (p.Thr664Pro) c.2371A>C (p.Thr791Pro) c.1960A>C (p.Thr654Pro) c.2556A>C (p.Pro852=) n.108+1963A>C c.2416A>C (p.Thr806Pro) c.2113A>C (p.Thr705Pro) n.2828A>C n.2471A>C | |
19 | g.11129617A>G | CA404099426 | LDLR | c.2752A>G (p.Thr918Ala) c.*563A>G (n.*563A>G) c.2374A>G (p.Thr792Ala) c.2494A>G (p.Thr832Ala) c.2748A>G c.1990A>G (p.Thr664Ala) c.2371A>G (p.Thr791Ala) c.1960A>G (p.Thr654Ala) c.2556A>G (p.Pro852=) n.108+1963A>G c.2416A>G (p.Thr806Ala) c.2113A>G (p.Thr705Ala) n.2828A>G n.2471A>G | ClinVar |
19 | g.11129617A>T | CA404099430 | LDLR | c.2752A>T (p.Thr918Ser) c.*563A>T (n.*563A>T) c.2374A>T (p.Thr792Ser) c.2494A>T (p.Thr832Ser) c.2748A>T c.1990A>T (p.Thr664Ser) c.2371A>T (p.Thr791Ser) c.1960A>T (p.Thr654Ser) c.2556A>T (p.Pro852=) n.108+1963A>T c.2416A>T (p.Thr806Ser) c.2113A>T (p.Thr705Ser) n.2828A>T n.2471A>T | |
19 | g.11129618C>A | CA404099447 | LDLR | c.2753C>A (p.Thr918Lys) c.*564C>A (n.*564C>A) c.2375C>A (p.Thr792Lys) c.2495C>A (p.Thr832Lys) c.2749C>A c.1991C>A (p.Thr664Lys) c.2372C>A (p.Thr791Lys) c.1961C>A (p.Thr654Lys) c.2557C>A (p.Gln853Lys) n.108+1964C>A c.2417C>A (p.Thr806Lys) c.2114C>A (p.Thr705Lys) n.2829C>A n.2472C>A | |
19 | g.11129618C>G | CA404099449 | LDLR | c.2753C>G (p.Thr918Arg) c.*564C>G (n.*564C>G) c.2375C>G (p.Thr792Arg) c.2495C>G (p.Thr832Arg) c.2749C>G c.1991C>G (p.Thr664Arg) c.2372C>G (p.Thr791Arg) c.1961C>G (p.Thr654Arg) c.2557C>G (p.Gln853Glu) n.108+1964C>G c.2417C>G (p.Thr806Arg) c.2114C>G (p.Thr705Arg) n.2829C>G n.2472C>G | |
19 | g.11129618C>T | CA404099436 | LDLR | c.2753C>T (p.Thr918Ile) c.*564C>T (n.*564C>T) c.2375C>T (p.Thr792Ile) c.2495C>T (p.Thr832Ile) c.2749C>T c.1991C>T (p.Thr664Ile) c.2372C>T (p.Thr791Ile) c.1961C>T (p.Thr654Ile) c.2557C>T (p.Gln853Ter) n.108+1964C>T c.2417C>T (p.Thr806Ile) c.2114C>T (p.Thr705Ile) n.2829C>T n.2472C>T | |
19 | g.11129619A= | CA2322780304 | LDLR | c.2754A= (p.Thr918=) c.*565A= (n.*565A=) c.2376A= (p.Thr792=) c.2496A= (p.Thr832=) c.2750A= c.1992A= (p.Thr664=) c.2373A= (p.Thr791=) c.1962A= (p.Thr654=) c.2558A= (p.Gln853=) n.108+1965A= c.2418A= (p.Thr806=) c.2115A= (p.Thr705=) n.2830A= n.2473A= | |
19 | g.11129619A>C | CA404099454 | LDLR | c.2754A>C (p.Thr918=) c.*565A>C (n.*565A>C) c.2376A>C (p.Thr792=) c.2496A>C (p.Thr832=) c.2750A>C c.1992A>C (p.Thr664=) c.2373A>C (p.Thr791=) c.1962A>C (p.Thr654=) c.2558A>C (p.Gln853Pro) n.108+1965A>C c.2418A>C (p.Thr806=) c.2115A>C (p.Thr705=) n.2830A>C n.2473A>C | |
19 | g.11129619A>G | CA404099460 | LDLR | c.2754A>G (p.Thr918=) c.*565A>G (n.*565A>G) c.2376A>G (p.Thr792=) c.2496A>G (p.Thr832=) c.2750A>G c.1992A>G (p.Thr664=) c.2373A>G (p.Thr791=) c.1962A>G (p.Thr654=) c.2558A>G (p.Gln853Arg) n.108+1965A>G c.2418A>G (p.Thr806=) c.2115A>G (p.Thr705=) n.2830A>G n.2473A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11129619A>T | CA404099462 | LDLR | c.2754A>T (p.Thr918=) c.*565A>T (n.*565A>T) c.2376A>T (p.Thr792=) c.2496A>T (p.Thr832=) c.2750A>T c.1992A>T (p.Thr664=) c.2373A>T (p.Thr791=) c.1962A>T (p.Thr654=) c.2558A>T (p.Gln853Leu) n.108+1965A>T c.2418A>T (p.Thr806=) c.2115A>T (p.Thr705=) n.2830A>T n.2473A>T | |
19 | g.11129620G>A | CA404099465 | LDLR | c.2755G>A (p.Glu919Lys) c.*566G>A (n.*566G>A) c.2377G>A (p.Glu793Lys) c.2497G>A (p.Glu833Lys) c.2751G>A c.1993G>A (p.Glu665Lys) c.2374G>A (p.Glu792Lys) c.1963G>A (p.Glu655Lys) c.2559G>A (p.Gln853=) n.108+1966G>A c.2419G>A (p.Glu807Lys) c.2116G>A (p.Glu706Lys) n.2831G>A n.2474G>A | ClinVar dbSNP |
19 | g.11129620G>C | CA404099468 | LDLR | c.2755G>C (p.Glu919Gln) c.*566G>C (n.*566G>C) c.2377G>C (p.Glu793Gln) c.2497G>C (p.Glu833Gln) c.2751G>C c.1993G>C (p.Glu665Gln) c.2374G>C (p.Glu792Gln) c.1963G>C (p.Glu655Gln) c.2559G>C (p.Gln853His) n.108+1966G>C c.2419G>C (p.Glu807Gln) c.2116G>C (p.Glu706Gln) n.2831G>C n.2474G>C | |
19 | g.11129620G= | CA2322780305 | LDLR | c.2755G= (p.Glu919=) c.*566G= (n.*566G=) c.2377G= (p.Glu793=) c.2497G= (p.Glu833=) c.2751G= c.1993G= (p.Glu665=) c.2374G= (p.Glu792=) c.1963G= (p.Glu655=) c.2559G= (p.Gln853=) n.108+1966G= c.2419G= (p.Glu807=) c.2116G= (p.Glu706=) n.2831G= n.2474G= | |
19 | g.11129620G>T | CA404099470 | LDLR | c.2755G>T (p.Glu919Ter) c.*566G>T (n.*566G>T) c.2377G>T (p.Glu793Ter) c.2497G>T (p.Glu833Ter) c.2751G>T c.1993G>T (p.Glu665Ter) c.2374G>T (p.Glu792Ter) c.1963G>T (p.Glu655Ter) c.2559G>T (p.Gln853His) n.108+1966G>T c.2419G>T (p.Glu807Ter) c.2116G>T (p.Glu706Ter) n.2831G>T n.2474G>T | dbSNP |
19 | g.11129621A= | CA2322780306 | LDLR | c.2756A= (p.Glu919=) c.*567A= (n.*567A=) c.2378A= (p.Glu793=) c.2498A= (p.Glu833=) c.2752A= c.1994A= (p.Glu665=) c.2375A= (p.Glu792=) c.1964A= (p.Glu655=) c.2560A= (p.Arg854=) n.108+1967A= c.2420A= (p.Glu807=) c.2117A= (p.Glu706=) n.2832A= n.2475A= | |
19 | g.11129621A>C | CA404099473 | LDLR | c.2756A>C (p.Glu919Ala) c.*567A>C (n.*567A>C) c.2378A>C (p.Glu793Ala) c.2498A>C (p.Glu833Ala) c.2752A>C c.1994A>C (p.Glu665Ala) c.2375A>C (p.Glu792Ala) c.1964A>C (p.Glu655Ala) c.2560A>C (p.Arg854=) n.108+1967A>C c.2420A>C (p.Glu807Ala) c.2117A>C (p.Glu706Ala) n.2832A>C n.2475A>C | |
19 | g.11129621A>G | CA404099478 | LDLR | c.2756A>G (p.Glu919Gly) c.*567A>G (n.*567A>G) c.2378A>G (p.Glu793Gly) c.2498A>G (p.Glu833Gly) c.2752A>G c.1994A>G (p.Glu665Gly) c.2375A>G (p.Glu792Gly) c.1964A>G (p.Glu655Gly) c.2560A>G (p.Arg854Gly) n.108+1967A>G c.2420A>G (p.Glu807Gly) c.2117A>G (p.Glu706Gly) n.2832A>G n.2475A>G | dbSNP gnomAD v2 |
19 | g.11129621A>T | CA404099481 | LDLR | c.2756A>T (p.Glu919Val) c.*567A>T (n.*567A>T) c.2378A>T (p.Glu793Val) c.2498A>T (p.Glu833Val) c.2752A>T c.1994A>T (p.Glu665Val) c.2375A>T (p.Glu792Val) c.1964A>T (p.Glu655Val) c.2560A>T (p.Arg854Trp) n.108+1967A>T c.2420A>T (p.Glu807Val) c.2117A>T (p.Glu706Val) n.2832A>T n.2475A>T | |
19 | g.11129621_11129622delinsAG | CA2322780307 | LDLR | c.2756_2757delinsAG (p.Glu919=) c.*567_*568delinsAG (n.*567_*568delinsAG) c.2378_2379delinsAG (p.Glu793=) c.2498_2499delinsAG (p.Glu833=) c.2752_2753delinsAG c.1994_1995delinsAG (p.Glu665=) c.2375_2376delinsAG (p.Glu792=) c.1964_1965delinsAG (p.Glu655=) c.2560_2561delinsAG (p.Arg854=) n.108+1967_108+1968delinsAG c.2420_2421delinsAG (p.Glu807=) c.2117_2118delinsAG (p.Glu706=) n.2832_2833delinsAG n.2475_2476delinsAG | |
19 | g.11129622G>A | CA404099485 | LDLR | c.2757G>A (p.Glu919=) c.*568G>A (n.*568G>A) c.2379G>A (p.Glu793=) c.2499G>A (p.Glu833=) c.2753G>A c.1995G>A (p.Glu665=) c.2376G>A (p.Glu792=) c.1965G>A (p.Glu655=) c.2561G>A (p.Arg854Lys) n.108+1968G>A c.2421G>A (p.Glu807=) c.2118G>A (p.Glu706=) n.2833G>A n.2476G>A | dbSNP |
19 | g.11129622G>C | CA404099486 | LDLR | c.2757G>C (p.Glu919Asp) c.*568G>C (n.*568G>C) c.2379G>C (p.Glu793Asp) c.2499G>C (p.Glu833Asp) c.2753G>C c.1995G>C (p.Glu665Asp) c.2376G>C (p.Glu792Asp) c.1965G>C (p.Glu655Asp) c.2561G>C (p.Arg854Thr) n.108+1968G>C c.2421G>C (p.Glu807Asp) c.2118G>C (p.Glu706Asp) n.2833G>C n.2476G>C | |
19 | g.11129622G= | CA2322780308 | LDLR | c.2757G= (p.Glu919=) c.*568G= (n.*568G=) c.2379G= (p.Glu793=) c.2499G= (p.Glu833=) c.2753G= c.1995G= (p.Glu665=) c.2376G= (p.Glu792=) c.1965G= (p.Glu655=) c.2561G= (p.Arg854=) n.108+1968G= c.2421G= (p.Glu807=) c.2118G= (p.Glu706=) n.2833G= n.2476G= | |
19 | g.11129622G>T | CA040880 | LDLR | c.2757G>T (p.Glu919Asp) c.*568G>T (n.*568G>T) c.2379G>T (p.Glu793Asp) c.2499G>T (p.Glu833Asp) c.2753G>T c.1995G>T (p.Glu665Asp) c.2376G>T (p.Glu792Asp) c.1965G>T (p.Glu655Asp) c.2561G>T (p.Arg854Met) n.108+1968G>T c.2421G>T (p.Glu807Asp) c.2118G>T (p.Glu706Asp) n.2833G>T n.2476G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11129623del | CA645509303 | LDLR | c.2758del (p.Asp920MetfsTer?) c.*569del (n.*569del) c.2380del (p.Asp794MetfsTer?) c.2500del (p.Asp834MetfsTer?) c.2754del c.1996del (p.Asp666MetfsTer?) c.2377del (p.Asp793MetfsTer?) c.1966del (p.Asp656MetfsTer?) c.2562del (p.Met855Ter) n.108+1969del c.2422del (p.Asp808MetfsTer?) c.2119del (p.Asp707MetfsTer?) n.2834del n.2477del | ClinVar dbSNP |
19 | g.11129622_11129625delinsGGAT | CA2322780309 | LDLR | c.2757_2760delinsGGAT (p.Glu919=) c.*568_*571delinsGGAT (n.*568_*571delinsGGAT) c.2379_2382delinsGGAT (p.Glu793=) c.2499_2502delinsGGAT (p.Glu833=) c.2753_2756delinsGGAT c.1995_1998delinsGGAT (p.Glu665=) c.2376_2379delinsGGAT (p.Glu792=) c.1965_1968delinsGGAT (p.Glu655=) c.2561_2564delinsGGAT (p.Arg854=) n.108+1968_108+1971delinsGGAT c.2421_2424delinsGGAT (p.Glu807=) c.2118_2121delinsGGAT (p.Glu706=) n.2833_2836delinsGGAT n.2476_2479delinsGGAT | |
19 | g.11129623G>A | CA404099497 | LDLR | c.2758G>A (p.Asp920Asn) c.*569G>A (n.*569G>A) c.2380G>A (p.Asp794Asn) c.2500G>A (p.Asp834Asn) c.2754G>A c.1996G>A (p.Asp666Asn) c.2377G>A (p.Asp793Asn) c.1966G>A (p.Asp656Asn) c.2562G>A (p.Arg854=) n.108+1969G>A c.2422G>A (p.Asp808Asn) c.2119G>A (p.Asp707Asn) n.2834G>A n.2477G>A | gnomAD v4 |
19 | g.11129623G>C | CA404099494 | LDLR | c.2758G>C (p.Asp920His) c.*569G>C (n.*569G>C) c.2380G>C (p.Asp794His) c.2500G>C (p.Asp834His) c.2754G>C c.1996G>C (p.Asp666His) c.2377G>C (p.Asp793His) c.1966G>C (p.Asp656His) c.2562G>C (p.Arg854Ser) n.108+1969G>C c.2422G>C (p.Asp808His) c.2119G>C (p.Asp707His) n.2834G>C n.2477G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11129623G= | CA2322780310 | LDLR | c.2758G= (p.Asp920=) c.*569G= (n.*569G=) c.2380G= (p.Asp794=) c.2500G= (p.Asp834=) c.2754G= c.1996G= (p.Asp666=) c.2377G= (p.Asp793=) c.1966G= (p.Asp656=) c.2562G= (p.Arg854=) n.108+1969G= c.2422G= (p.Asp808=) c.2119G= (p.Asp707=) n.2834G= n.2477G= | |
19 | g.11129623G>T | CA404099489 | LDLR | c.2758G>T (p.Asp920Tyr) c.*569G>T (n.*569G>T) c.2380G>T (p.Asp794Tyr) c.2500G>T (p.Asp834Tyr) c.2754G>T c.1996G>T (p.Asp666Tyr) c.2377G>T (p.Asp793Tyr) c.1966G>T (p.Asp656Tyr) c.2562G>T (p.Arg854Ser) n.108+1969G>T c.2422G>T (p.Asp808Tyr) c.2119G>T (p.Asp707Tyr) n.2834G>T n.2477G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11129623_11129625delinsC | CA10585874 | LDLR | c.2758_2760delinsC (p.Asp920ArgfsTer24) c.*569_*571delinsC (n.*569_*571delinsC) c.2380_2382delinsC (p.Asp794ArgfsTer24) c.2500_2502delinsC (p.Asp834ArgfsTer24) c.2754_2756delinsC c.1996_1998delinsC (p.Asp666ArgfsTer24) c.2377_2379delinsC (p.Asp793ArgfsTer24) c.1966_1968delinsC (p.Asp656ArgfsTer24) c.2562_2564delinsC (p.Arg854SerfsTer28) c.2500_2502delinsC (p.Asp834ArgfsTer22) n.108+1969_108+1971delinsC c.2422_2424delinsC (p.Asp808ArgfsTer24) c.2119_2121delinsC (p.Asp707ArgfsTer24) n.2834_2836delinsC n.2477_2479delinsC | ClinVar dbSNP |
19 | g.11129624A>C | CA404099501 | LDLR | c.2759A>C (p.Asp920Ala) c.*570A>C (n.*570A>C) c.2381A>C (p.Asp794Ala) c.2501A>C (p.Asp834Ala) c.2755A>C c.1997A>C (p.Asp666Ala) c.2378A>C (p.Asp793Ala) c.1967A>C (p.Asp656Ala) c.2563A>C (p.Met855Leu) n.108+1970A>C c.2423A>C (p.Asp808Ala) c.2120A>C (p.Asp707Ala) n.2835A>C n.2478A>C | |
19 | g.11129624A>G | CA404099503 | LDLR | c.2759A>G (p.Asp920Gly) c.*570A>G (n.*570A>G) c.2381A>G (p.Asp794Gly) c.2501A>G (p.Asp834Gly) c.2755A>G c.1997A>G (p.Asp666Gly) c.2378A>G (p.Asp793Gly) c.1967A>G (p.Asp656Gly) c.2563A>G (p.Met855Val) n.108+1970A>G c.2423A>G (p.Asp808Gly) c.2120A>G (p.Asp707Gly) n.2835A>G n.2478A>G | |
19 | g.11129624A>T | CA404099511 | LDLR | c.2759A>T (p.Asp920Val) c.*570A>T (n.*570A>T) c.2381A>T (p.Asp794Val) c.2501A>T (p.Asp834Val) c.2755A>T c.1997A>T (p.Asp666Val) c.2378A>T (p.Asp793Val) c.1967A>T (p.Asp656Val) c.2563A>T (p.Met855Leu) n.108+1970A>T c.2423A>T (p.Asp808Val) c.2120A>T (p.Asp707Val) n.2835A>T n.2478A>T | |
19 | g.11129625T>A | CA404099515 | LDLR | c.2760T>A (p.Asp920Glu) c.*571T>A (n.*571T>A) c.2382T>A (p.Asp794Glu) c.2502T>A (p.Asp834Glu) c.2756T>A c.1998T>A (p.Asp666Glu) c.2379T>A (p.Asp793Glu) c.1968T>A (p.Asp656Glu) c.2564T>A (p.Met855Lys) n.108+1971T>A c.2424T>A (p.Asp808Glu) c.2121T>A (p.Asp707Glu) n.2836T>A n.2479T>A | gnomAD v4 |
19 | g.11129625T>C | CA404099517 | LDLR | c.2760T>C (p.Asp920=) c.*571T>C (n.*571T>C) c.2382T>C (p.Asp794=) c.2502T>C (p.Asp834=) c.2756T>C c.1998T>C (p.Asp666=) c.2379T>C (p.Asp793=) c.1968T>C (p.Asp656=) c.2564T>C (p.Met855Thr) n.108+1971T>C c.2424T>C (p.Asp808=) c.2121T>C (p.Asp707=) n.2836T>C n.2479T>C | |
19 | g.11129625T>G | CA404099521 | LDLR | c.2760T>G (p.Asp920Glu) c.*571T>G (n.*571T>G) c.2382T>G (p.Asp794Glu) c.2502T>G (p.Asp834Glu) c.2756T>G c.1998T>G (p.Asp666Glu) c.2379T>G (p.Asp793Glu) c.1968T>G (p.Asp656Glu) c.2564T>G (p.Met855Arg) n.108+1971T>G c.2424T>G (p.Asp808Glu) c.2121T>G (p.Asp707Glu) n.2836T>G n.2479T>G | |
19 | g.11129625dup | CA2580096346 | LDLR | c.2760dup (p.Glu921Ter) c.*571dup (n.*571dup) c.2382dup (p.Glu795Ter) c.2502dup (p.Glu835Ter) c.2756dup c.1998dup (p.Glu667Ter) c.2379dup (p.Glu794Ter) c.1968dup (p.Glu657Ter) c.2564dup (p.Met855IlefsTer28) n.108+1971dup c.2424dup (p.Glu809Ter) c.2121dup (p.Glu708Ter) n.2836dup n.2479dup | ClinVar |
19 | g.11129626G>A | CA404099523 | LDLR | c.2761G>A (p.Glu921Lys) c.*572G>A (n.*572G>A) c.2383G>A (p.Glu795Lys) c.2503G>A (p.Glu835Lys) c.2757G>A c.1999G>A (p.Glu667Lys) c.2380G>A (p.Glu794Lys) c.1969G>A (p.Glu657Lys) c.2565G>A (p.Met855Ile) n.108+1972G>A c.2425G>A (p.Glu809Lys) c.2122G>A (p.Glu708Lys) n.2837G>A n.2480G>A | |
19 | g.11129626G>C | CA404099525 | LDLR | c.2761G>C (p.Glu921Gln) c.*572G>C (n.*572G>C) c.2383G>C (p.Glu795Gln) c.2503G>C (p.Glu835Gln) c.2757G>C c.1999G>C (p.Glu667Gln) c.2380G>C (p.Glu794Gln) c.1969G>C (p.Glu657Gln) c.2565G>C (p.Met855Ile) n.108+1972G>C c.2425G>C (p.Glu809Gln) c.2122G>C (p.Glu708Gln) n.2837G>C n.2480G>C | |
19 | g.11129626G>T | CA404099526 | LDLR | c.2761G>T (p.Glu921Ter) c.*572G>T (n.*572G>T) c.2383G>T (p.Glu795Ter) c.2503G>T (p.Glu835Ter) c.2757G>T c.1999G>T (p.Glu667Ter) c.2380G>T (p.Glu794Ter) c.1969G>T (p.Glu657Ter) c.2565G>T (p.Met855Ile) n.108+1972G>T c.2425G>T (p.Glu809Ter) c.2122G>T (p.Glu708Ter) n.2837G>T n.2480G>T | |
19 | g.11129627A= | CA2322780311 | LDLR | c.2762A= (p.Glu921=) c.*573A= (n.*573A=) c.2384A= (p.Glu795=) c.2504A= (p.Glu835=) c.2758A= c.2000A= (p.Glu667=) c.2381A= (p.Glu794=) c.1970A= (p.Glu657=) c.2566A= (p.Arg856=) n.108+1973A= c.2426A= (p.Glu809=) c.2123A= (p.Glu708=) n.2838A= n.2481A= | |
19 | g.11129627A>C | CA040890 | LDLR | c.2762A>C (p.Glu921Ala) c.*573A>C (n.*573A>C) c.2384A>C (p.Glu795Ala) c.2504A>C (p.Glu835Ala) c.2758A>C c.2000A>C (p.Glu667Ala) c.2381A>C (p.Glu794Ala) c.1970A>C (p.Glu657Ala) c.2566A>C (p.Arg856=) n.108+1973A>C c.2426A>C (p.Glu809Ala) c.2123A>C (p.Glu708Ala) n.2838A>C n.2481A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11129627A>G | CA404099527 | LDLR | c.2762A>G (p.Glu921Gly) c.*573A>G (n.*573A>G) c.2384A>G (p.Glu795Gly) c.2504A>G (p.Glu835Gly) c.2758A>G c.2000A>G (p.Glu667Gly) c.2381A>G (p.Glu794Gly) c.1970A>G (p.Glu657Gly) c.2566A>G (p.Arg856Gly) n.108+1973A>G c.2426A>G (p.Glu809Gly) c.2123A>G (p.Glu708Gly) n.2838A>G n.2481A>G | |
19 | g.11129627A>T | CA404099531 | LDLR | c.2762A>T (p.Glu921Val) c.*573A>T (n.*573A>T) c.2384A>T (p.Glu795Val) c.2504A>T (p.Glu835Val) c.2758A>T c.2000A>T (p.Glu667Val) c.2381A>T (p.Glu794Val) c.1970A>T (p.Glu657Val) c.2566A>T (p.Arg856Trp) n.108+1973A>T c.2426A>T (p.Glu809Val) c.2123A>T (p.Glu708Val) n.2838A>T n.2481A>T | |
19 | g.11129628G>A | CA404099534 | LDLR | c.2763G>A (p.Glu921=) c.*574G>A (n.*574G>A) c.2385G>A (p.Glu795=) c.2505G>A (p.Glu835=) c.2759G>A c.2001G>A (p.Glu667=) c.2382G>A (p.Glu794=) c.1971G>A (p.Glu657=) c.2567G>A (p.Arg856Lys) n.108+1974G>A c.2427G>A (p.Glu809=) c.2124G>A (p.Glu708=) n.2839G>A n.2482G>A | |
19 | g.11129628G>C | CA404099536 | LDLR | c.2763G>C (p.Glu921Asp) c.*574G>C (n.*574G>C) c.2385G>C (p.Glu795Asp) c.2505G>C (p.Glu835Asp) c.2759G>C c.2001G>C (p.Glu667Asp) c.2382G>C (p.Glu794Asp) c.1971G>C (p.Glu657Asp) c.2567G>C (p.Arg856Thr) n.108+1974G>C c.2427G>C (p.Glu809Asp) c.2124G>C (p.Glu708Asp) n.2839G>C n.2482G>C | |
19 | g.11129628G>T | CA404099538 | LDLR | c.2763G>T (p.Glu921Asp) c.*574G>T (n.*574G>T) c.2385G>T (p.Glu795Asp) c.2505G>T (p.Glu835Asp) c.2759G>T c.2001G>T (p.Glu667Asp) c.2382G>T (p.Glu794Asp) c.1971G>T (p.Glu657Asp) c.2567G>T (p.Arg856Met) n.108+1974G>T c.2427G>T (p.Glu809Asp) c.2124G>T (p.Glu708Asp) n.2839G>T n.2482G>T | |
19 | g.11129629G>A | CA10585875 | LDLR | c.2764G>A (p.Val922Ile) c.*575G>A (n.*575G>A) c.2386G>A (p.Val796Ile) c.2506G>A (p.Val836Ile) c.2760G>A c.2002G>A (p.Val668Ile) c.2383G>A (p.Val795Ile) c.1972G>A (p.Val658Ile) c.2568G>A (p.Arg856=) n.108+1975G>A c.2428G>A (p.Val810Ile) c.2125G>A (p.Val709Ile) n.2840G>A n.2483G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11129629G>C | CA404099549 | LDLR | c.2764G>C (p.Val922Leu) c.*575G>C (n.*575G>C) c.2386G>C (p.Val796Leu) c.2506G>C (p.Val836Leu) c.2760G>C c.2002G>C (p.Val668Leu) c.2383G>C (p.Val795Leu) c.1972G>C (p.Val658Leu) c.2568G>C (p.Arg856Ser) n.108+1975G>C c.2428G>C (p.Val810Leu) c.2125G>C (p.Val709Leu) n.2840G>C n.2483G>C | |
19 | g.11129629G= | CA2322780312 | LDLR | c.2764G= (p.Val922=) c.*575G= (n.*575G=) c.2386G= (p.Val796=) c.2506G= (p.Val836=) c.2760G= c.2002G= (p.Val668=) c.2383G= (p.Val795=) c.1972G= (p.Val658=) c.2568G= (p.Arg856=) n.108+1975G= c.2428G= (p.Val810=) c.2125G= (p.Val709=) n.2840G= n.2483G= | |
19 | g.11129629G>T | CA404099542 | LDLR | c.2764G>T (p.Val922Phe) c.*575G>T (n.*575G>T) c.2386G>T (p.Val796Phe) c.2506G>T (p.Val836Phe) c.2760G>T c.2002G>T (p.Val668Phe) c.2383G>T (p.Val795Phe) c.1972G>T (p.Val658Phe) c.2568G>T (p.Arg856Ser) n.108+1975G>T c.2428G>T (p.Val810Phe) c.2125G>T (p.Val709Phe) n.2840G>T n.2483G>T | |
19 | g.11129630T>A | CA404099552 | LDLR | c.2765T>A (p.Val922Asp) c.*576T>A (n.*576T>A) c.2387T>A (p.Val796Asp) c.2507T>A (p.Val836Asp) c.2761T>A c.2003T>A (p.Val668Asp) c.2384T>A (p.Val795Asp) c.1973T>A (p.Val658Asp) c.2569T>A (p.Ser857Thr) n.108+1976T>A c.2429T>A (p.Val810Asp) c.2126T>A (p.Val709Asp) n.2841T>A n.2484T>A | |
19 | g.11129630T>C | CA404099554 | LDLR | c.2765T>C (p.Val922Ala) c.*576T>C (n.*576T>C) c.2387T>C (p.Val796Ala) c.2507T>C (p.Val836Ala) c.2761T>C c.2003T>C (p.Val668Ala) c.2384T>C (p.Val795Ala) c.1973T>C (p.Val658Ala) c.2569T>C (p.Ser857Pro) n.108+1976T>C c.2429T>C (p.Val810Ala) c.2126T>C (p.Val709Ala) n.2841T>C n.2484T>C | |
19 | g.11129630T>G | CA404099555 | LDLR | c.2765T>G (p.Val922Gly) c.*576T>G (n.*576T>G) c.2387T>G (p.Val796Gly) c.2507T>G (p.Val836Gly) c.2761T>G c.2003T>G (p.Val668Gly) c.2384T>G (p.Val795Gly) c.1973T>G (p.Val658Gly) c.2569T>G (p.Ser857Ala) n.108+1976T>G c.2429T>G (p.Val810Gly) c.2126T>G (p.Val709Gly) n.2841T>G n.2484T>G | |
19 | g.11129630_11129631delinsTC | CA2322780313 | LDLR | c.2765_2766delinsTC (p.Val922=) c.*576_*577delinsTC (n.*576_*577delinsTC) c.2387_2388delinsTC (p.Val796=) c.2507_2508delinsTC (p.Val836=) c.2761_2762delinsTC c.2003_2004delinsTC (p.Val668=) c.2384_2385delinsTC (p.Val795=) c.1973_1974delinsTC (p.Val658=) c.2569_2570delinsTC (p.Ser857=) n.108+1976_108+1977delinsTC c.2429_2430delinsTC (p.Val810=) c.2126_2127delinsTC (p.Val709=) n.2841_2842delinsTC n.2484_2485delinsTC | |
19 | g.11129631C>A | CA404099561 | LDLR | c.2766C>A (p.Val922=) c.*577C>A (n.*577C>A) c.2388C>A (p.Val796=) c.2508C>A (p.Val836=) c.2762C>A c.2004C>A (p.Val668=) c.2385C>A (p.Val795=) c.1974C>A (p.Val658=) c.2570C>A (p.Ser857Tyr) n.108+1977C>A c.2430C>A (p.Val810=) c.2127C>A (p.Val709=) n.2842C>A n.2485C>A | |
19 | g.11129631C= | CA2322780314 | LDLR | c.2766C= (p.Val922=) c.*577C= (n.*577C=) c.2388C= (p.Val796=) c.2508C= (p.Val836=) c.2762C= c.2004C= (p.Val668=) c.2385C= (p.Val795=) c.1974C= (p.Val658=) c.2570C= (p.Ser857=) n.108+1977C= c.2430C= (p.Val810=) c.2127C= (p.Val709=) n.2842C= n.2485C= | |
19 | g.11129631C>G | CA404099564 | LDLR | c.2766C>G (p.Val922=) c.*577C>G (n.*577C>G) c.2388C>G (p.Val796=) c.2508C>G (p.Val836=) c.2762C>G c.2004C>G (p.Val668=) c.2385C>G (p.Val795=) c.1974C>G (p.Val658=) c.2570C>G (p.Ser857Cys) n.108+1977C>G c.2430C>G (p.Val810=) c.2127C>G (p.Val709=) n.2842C>G n.2485C>G | |
19 | g.11129631C>T | CA404099565 | LDLR | c.2766C>T (p.Val922=) c.*577C>T (n.*577C>T) c.2388C>T (p.Val796=) c.2508C>T (p.Val836=) c.2762C>T c.2004C>T (p.Val668=) c.2385C>T (p.Val795=) c.1974C>T (p.Val658=) c.2570C>T (p.Ser857Phe) n.108+1977C>T c.2430C>T (p.Val810=) c.2127C>T (p.Val709=) n.2842C>T n.2485C>T | ClinVar dbSNP |
19 | g.11129632del | CA10585876 | LDLR | c.2767del (p.His923ThrfsTer?) c.*578del (n.*578del) c.2389del (p.His797ThrfsTer?) c.2509del (p.His837ThrfsTer?) c.2763del c.2005del (p.His669ThrfsTer?) c.2386del (p.His796ThrfsTer?) c.1975del (p.His659ThrfsTer?) c.2571del (p.Thr858HisfsTer21) n.108+1978del c.2431del (p.His811ThrfsTer?) c.2128del (p.His710ThrfsTer?) n.2843del n.2486del | ClinVar dbSNP |
19 | g.11129632C>A | CA404099568 | LDLR | c.2767C>A (p.His923Asn) c.*578C>A (n.*578C>A) c.2389C>A (p.His797Asn) c.2509C>A (p.His837Asn) c.2763C>A c.2005C>A (p.His669Asn) c.2386C>A (p.His796Asn) c.1975C>A (p.His659Asn) c.2571C>A (p.Ser857=) n.108+1978C>A c.2431C>A (p.His811Asn) c.2128C>A (p.His710Asn) n.2843C>A n.2486C>A | |
19 | g.11129632C= | CA2322780315 | LDLR | c.2767C= (p.His923=) c.*578C= (n.*578C=) c.2389C= (p.His797=) c.2509C= (p.His837=) c.2763C= c.2005C= (p.His669=) c.2386C= (p.His796=) c.1975C= (p.His659=) c.2571C= (p.Ser857=) n.108+1978C= c.2431C= (p.His811=) c.2128C= (p.His710=) n.2843C= n.2486C= | |
19 | g.11129632C>G | CA404099570 | LDLR | c.2767C>G (p.His923Asp) c.*578C>G (n.*578C>G) c.2389C>G (p.His797Asp) c.2509C>G (p.His837Asp) c.2763C>G c.2005C>G (p.His669Asp) c.2386C>G (p.His796Asp) c.1975C>G (p.His659Asp) c.2571C>G (p.Ser857=) n.108+1978C>G c.2431C>G (p.His811Asp) c.2128C>G (p.His710Asp) n.2843C>G n.2486C>G | |
19 | g.11129632C>T | CA404099571 | LDLR | c.2767C>T (p.His923Tyr) c.*578C>T (n.*578C>T) c.2389C>T (p.His797Tyr) c.2509C>T (p.His837Tyr) c.2763C>T c.2005C>T (p.His669Tyr) c.2386C>T (p.His796Tyr) c.1975C>T (p.His659Tyr) c.2571C>T (p.Ser857=) n.108+1978C>T c.2431C>T (p.His811Tyr) c.2128C>T (p.His710Tyr) n.2843C>T n.2486C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11129633A= | CA2322780316 | LDLR | c.2768A= (p.His923=) c.*579A= (n.*579A=) c.2390A= (p.His797=) c.2510A= (p.His837=) c.2764A= c.2006A= (p.His669=) c.2387A= (p.His796=) c.1976A= (p.His659=) c.2572A= (p.Thr858=) n.108+1979A= c.2432A= (p.His811=) c.2129A= (p.His710=) n.2844A= n.2487A= | |
19 | g.11129633A>C | CA404099574 | LDLR | c.2768A>C (p.His923Pro) c.*579A>C (n.*579A>C) c.2390A>C (p.His797Pro) c.2510A>C (p.His837Pro) c.2764A>C c.2006A>C (p.His669Pro) c.2387A>C (p.His796Pro) c.1976A>C (p.His659Pro) c.2572A>C (p.Thr858Pro) n.108+1979A>C c.2432A>C (p.His811Pro) c.2129A>C (p.His710Pro) n.2844A>C n.2487A>C | |
19 | g.11129633A>G | CA040902 | LDLR | c.2768A>G (p.His923Arg) c.*579A>G (n.*579A>G) c.2390A>G (p.His797Arg) c.2510A>G (p.His837Arg) c.2764A>G c.2006A>G (p.His669Arg) c.2387A>G (p.His796Arg) c.1976A>G (p.His659Arg) c.2572A>G (p.Thr858Ala) n.108+1979A>G c.2432A>G (p.His811Arg) c.2129A>G (p.His710Arg) n.2844A>G n.2487A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11129633A>T | CA404099578 | LDLR | c.2768A>T (p.His923Leu) c.*579A>T (n.*579A>T) c.2390A>T (p.His797Leu) c.2510A>T (p.His837Leu) c.2764A>T c.2006A>T (p.His669Leu) c.2387A>T (p.His796Leu) c.1976A>T (p.His659Leu) c.2572A>T (p.Thr858Ser) n.108+1979A>T c.2432A>T (p.His811Leu) c.2129A>T (p.His710Leu) n.2844A>T n.2487A>T | |
19 | g.11129634C>A | CA404099601 | LDLR | c.2769C>A (p.His923Gln) c.*580C>A (n.*580C>A) c.2391C>A (p.His797Gln) c.2511C>A (p.His837Gln) c.2765C>A c.2007C>A (p.His669Gln) c.2388C>A (p.His796Gln) c.1977C>A (p.His659Gln) c.2573C>A (p.Thr858Lys) n.108+1980C>A c.2433C>A (p.His811Gln) c.2130C>A (p.His710Gln) n.2845C>A n.2488C>A | |
19 | g.11129634C>G | CA404099596 | LDLR | c.2769C>G (p.His923Gln) c.*580C>G (n.*580C>G) c.2391C>G (p.His797Gln) c.2511C>G (p.His837Gln) c.2765C>G c.2007C>G (p.His669Gln) c.2388C>G (p.His796Gln) c.1977C>G (p.His659Gln) c.2573C>G (p.Thr858Arg) n.108+1980C>G c.2433C>G (p.His811Gln) c.2130C>G (p.His710Gln) n.2845C>G n.2488C>G | |
19 | g.11129634C>T | CA404099599 | LDLR | c.2769C>T (p.His923=) c.*580C>T (n.*580C>T) c.2391C>T (p.His797=) c.2511C>T (p.His837=) c.2765C>T c.2007C>T (p.His669=) c.2388C>T (p.His796=) c.1977C>T (p.His659=) c.2573C>T (p.Thr858Ile) n.108+1980C>T c.2433C>T (p.His811=) c.2130C>T (p.His710=) n.2845C>T n.2488C>T | ClinVar |
19 | g.11129634_11129635insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG | CA2813590281 | LDLR | c.2769_2770insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Ile924GlyfsTer52) c.*580_*581insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (n.*580_*581insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG) c.2391_2392insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Ile798GlyfsTer52) c.2511_2512insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Ile838GlyfsTer52) c.2765_2766insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG c.2007_2008insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Ile670GlyfsTer52) c.2388_2389insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Ile797GlyfsTer52) c.1977_1978insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Ile660GlyfsTer52) c.2573_2574insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Phe859GlyfsTer55) c.2511_2512insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Ile838GlyfsTer50) n.108+1980_108+1981insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG c.2433_2434insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Ile812GlyfsTer52) c.2130_2131insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Ile711GlyfsTer52) n.2845_2846insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG n.2488_2489insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG | |
19 | g.11129635A= | CA2322780317 | LDLR | c.2770A= (p.Ile924=) c.*581A= (n.*581A=) c.2392A= (p.Ile798=) c.2512A= (p.Ile838=) c.2766A= c.2008A= (p.Ile670=) c.2389A= (p.Ile797=) c.1978A= (p.Ile660=) c.2574A= (p.Thr858=) n.108+1981A= c.2434A= (p.Ile812=) c.2131A= (p.Ile711=) n.2846A= n.2489A= | |
19 | g.11129635A>C | CA404099605 | LDLR | c.2770A>C (p.Ile924Leu) c.*581A>C (n.*581A>C) c.2392A>C (p.Ile798Leu) c.2512A>C (p.Ile838Leu) c.2766A>C c.2008A>C (p.Ile670Leu) c.2389A>C (p.Ile797Leu) c.1978A>C (p.Ile660Leu) c.2574A>C (p.Thr858=) n.108+1981A>C c.2434A>C (p.Ile812Leu) c.2131A>C (p.Ile711Leu) n.2846A>C n.2489A>C | |
19 | g.11129635A>G | CA404099612 | LDLR | c.2770A>G (p.Ile924Val) c.*581A>G (n.*581A>G) c.2392A>G (p.Ile798Val) c.2512A>G (p.Ile838Val) c.2766A>G c.2008A>G (p.Ile670Val) c.2389A>G (p.Ile797Val) c.1978A>G (p.Ile660Val) c.2574A>G (p.Thr858=) n.108+1981A>G c.2434A>G (p.Ile812Val) c.2131A>G (p.Ile711Val) n.2846A>G n.2489A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11129635A>T | CA404099615 | LDLR | c.2770A>T (p.Ile924Phe) c.*581A>T (n.*581A>T) c.2392A>T (p.Ile798Phe) c.2512A>T (p.Ile838Phe) c.2766A>T c.2008A>T (p.Ile670Phe) c.2389A>T (p.Ile797Phe) c.1978A>T (p.Ile660Phe) c.2574A>T (p.Thr858=) n.108+1981A>T c.2434A>T (p.Ile812Phe) c.2131A>T (p.Ile711Phe) n.2846A>T n.2489A>T | |
19 | g.11129636T>A | CA404099618 | LDLR | c.2771T>A (p.Ile924Asn) c.*582T>A (n.*582T>A) c.2393T>A (p.Ile798Asn) c.2513T>A (p.Ile838Asn) c.2767T>A c.2009T>A (p.Ile670Asn) c.2390T>A (p.Ile797Asn) c.1979T>A (p.Ile660Asn) c.2575T>A (p.Phe859Ile) n.108+1982T>A c.2435T>A (p.Ile812Asn) c.2132T>A (p.Ile711Asn) n.2847T>A n.2490T>A | |
19 | g.11129636T>C | CA404099621 | LDLR | c.2771T>C (p.Ile924Thr) c.*582T>C (n.*582T>C) c.2393T>C (p.Ile798Thr) c.2513T>C (p.Ile838Thr) c.2767T>C c.2009T>C (p.Ile670Thr) c.2390T>C (p.Ile797Thr) c.1979T>C (p.Ile660Thr) c.2575T>C (p.Phe859Leu) n.108+1982T>C c.2435T>C (p.Ile812Thr) c.2132T>C (p.Ile711Thr) n.2847T>C n.2490T>C | |
19 | g.11129636T>G | CA404099623 | LDLR | c.2771T>G (p.Ile924Ser) c.*582T>G (n.*582T>G) c.2393T>G (p.Ile798Ser) c.2513T>G (p.Ile838Ser) c.2767T>G c.2009T>G (p.Ile670Ser) c.2390T>G (p.Ile797Ser) c.1979T>G (p.Ile660Ser) c.2575T>G (p.Phe859Val) n.108+1982T>G c.2435T>G (p.Ile812Ser) c.2132T>G (p.Ile711Ser) n.2847T>G n.2490T>G | |
19 | g.11129637T>A | CA404099627 | LDLR | c.2772T>A (p.Ile924=) c.*583T>A (n.*583T>A) c.2394T>A (p.Ile798=) c.2514T>A (p.Ile838=) c.2768T>A c.2010T>A (p.Ile670=) c.2391T>A (p.Ile797=) c.1980T>A (p.Ile660=) c.2576T>A (p.Phe859Tyr) n.108+1983T>A c.2436T>A (p.Ile812=) c.2133T>A (p.Ile711=) n.2848T>A n.2491T>A | ClinVar dbSNP |
19 | g.11129637T>C | CA404099639 | LDLR | c.2772T>C (p.Ile924=) c.*583T>C (n.*583T>C) c.2394T>C (p.Ile798=) c.2514T>C (p.Ile838=) c.2768T>C c.2010T>C (p.Ile670=) c.2391T>C (p.Ile797=) c.1980T>C (p.Ile660=) c.2576T>C (p.Phe859Ser) n.108+1983T>C c.2436T>C (p.Ile812=) c.2133T>C (p.Ile711=) n.2848T>C n.2491T>C | dbSNP |
19 | g.11129637T>G | CA404099641 | LDLR | c.2772T>G (p.Ile924Met) c.*583T>G (n.*583T>G) c.2394T>G (p.Ile798Met) c.2514T>G (p.Ile838Met) c.2768T>G c.2010T>G (p.Ile670Met) c.2391T>G (p.Ile797Met) c.1980T>G (p.Ile660Met) c.2576T>G (p.Phe859Cys) n.108+1983T>G c.2436T>G (p.Ile812Met) c.2133T>G (p.Ile711Met) n.2848T>G n.2491T>G | |
19 | g.11129637T= | CA2322780318 | LDLR | c.2772T= (p.Ile924=) c.*583T= (n.*583T=) c.2394T= (p.Ile798=) c.2514T= (p.Ile838=) c.2768T= c.2010T= (p.Ile670=) c.2391T= (p.Ile797=) c.1980T= (p.Ile660=) c.2576T= (p.Phe859=) n.108+1983T= c.2436T= (p.Ile812=) c.2133T= (p.Ile711=) n.2848T= n.2491T= | |
19 | g.11129637_11129680delinsGG | CA2695202622 | LDLR | c.2772_2805+10delinsGG c.*583_*616+10delinsGG c.2394_2427+10delinsGG c.2514_2547+10delinsGG c.2768_2801+10delinsGG c.2010_2043+10delinsGG c.2391_2424+10delinsGG c.1980_2013+10delinsGG c.2576_2609+10delinsGG n.108+1983_108+2026delinsGG c.2436_2469+10delinsGG c.2133_2166+10delinsGG n.2848_2881+10delinsGG n.2491_2524+10delinsGG | |
19 | g.11129638_11129682del | CA2695202623 | LDLR | c.2773_2805+12del c.*584_*616+12del c.2395_2427+12del c.2515_2547+12del c.2769_2801+12del c.2011_2043+12del c.2392_2424+12del c.1981_2013+12del c.2577_2609+12del n.108+1984_108+2028del c.2437_2469+12del c.2134_2166+12del n.2849_2881+12del n.2492_2524+12del | |
19 | g.11129638T>A | CA404099645 | LDLR | c.2773T>A (p.Cys925Ser) c.*584T>A (n.*584T>A) c.2395T>A (p.Cys799Ser) c.2515T>A (p.Cys839Ser) c.2769T>A c.2011T>A (p.Cys671Ser) c.2392T>A (p.Cys798Ser) c.1981T>A (p.Cys661Ser) c.2577T>A (p.Phe859Leu) n.108+1984T>A c.2437T>A (p.Cys813Ser) c.2134T>A (p.Cys712Ser) n.2849T>A n.2492T>A | |
19 | g.11129638T>C | CA404099647 | LDLR | c.2773T>C (p.Cys925Arg) c.*584T>C (n.*584T>C) c.2395T>C (p.Cys799Arg) c.2515T>C (p.Cys839Arg) c.2769T>C c.2011T>C (p.Cys671Arg) c.2392T>C (p.Cys798Arg) c.1981T>C (p.Cys661Arg) c.2577T>C (p.Phe859=) n.108+1984T>C c.2437T>C (p.Cys813Arg) c.2134T>C (p.Cys712Arg) n.2849T>C n.2492T>C | |
19 | g.11129638T>G | CA404099649 | LDLR | c.2773T>G (p.Cys925Gly) c.*584T>G (n.*584T>G) c.2395T>G (p.Cys799Gly) c.2515T>G (p.Cys839Gly) c.2769T>G c.2011T>G (p.Cys671Gly) c.2392T>G (p.Cys798Gly) c.1981T>G (p.Cys661Gly) c.2577T>G (p.Phe859Leu) n.108+1984T>G c.2437T>G (p.Cys813Gly) c.2134T>G (p.Cys712Gly) n.2849T>G n.2492T>G | |
19 | g.11129639G>A | CA404099653 | LDLR | c.2774G>A (p.Cys925Tyr) c.*585G>A (n.*585G>A) c.2396G>A (p.Cys799Tyr) c.2516G>A (p.Cys839Tyr) c.2770G>A c.2012G>A (p.Cys671Tyr) c.2393G>A (p.Cys798Tyr) c.1982G>A (p.Cys661Tyr) c.2578G>A (p.Ala860Thr) n.108+1985G>A c.2438G>A (p.Cys813Tyr) c.2135G>A (p.Cys712Tyr) n.2850G>A n.2493G>A | |
19 | g.11129639G>C | CA404099658 | LDLR | c.2774G>C (p.Cys925Ser) c.*585G>C (n.*585G>C) c.2396G>C (p.Cys799Ser) c.2516G>C (p.Cys839Ser) c.2770G>C c.2012G>C (p.Cys671Ser) c.2393G>C (p.Cys798Ser) c.1982G>C (p.Cys661Ser) c.2578G>C (p.Ala860Pro) n.108+1985G>C c.2438G>C (p.Cys813Ser) c.2135G>C (p.Cys712Ser) n.2850G>C n.2493G>C | |
19 | g.11129639G>T | CA404099656 | LDLR | c.2774G>T (p.Cys925Phe) c.*585G>T (n.*585G>T) c.2396G>T (p.Cys799Phe) c.2516G>T (p.Cys839Phe) c.2770G>T c.2012G>T (p.Cys671Phe) c.2393G>T (p.Cys798Phe) c.1982G>T (p.Cys661Phe) c.2578G>T (p.Ala860Ser) n.108+1985G>T c.2438G>T (p.Cys813Phe) c.2135G>T (p.Cys712Phe) n.2850G>T n.2493G>T | |
19 | g.11129640C>A | CA404099662 | LDLR | c.2775C>A (p.Cys925Ter) c.*586C>A (n.*586C>A) c.2397C>A (p.Cys799Ter) c.2517C>A (p.Cys839Ter) c.2771C>A c.2013C>A (p.Cys671Ter) c.2394C>A (p.Cys798Ter) c.1983C>A (p.Cys661Ter) c.2579C>A (p.Ala860Asp) n.108+1986C>A c.2439C>A (p.Cys813Ter) c.2136C>A (p.Cys712Ter) n.2851C>A n.2494C>A | |
19 | g.11129640C>G | CA404099671 | LDLR | c.2775C>G (p.Cys925Trp) c.*586C>G (n.*586C>G) c.2397C>G (p.Cys799Trp) c.2517C>G (p.Cys839Trp) c.2771C>G c.2013C>G (p.Cys671Trp) c.2394C>G (p.Cys798Trp) c.1983C>G (p.Cys661Trp) c.2579C>G (p.Ala860Gly) n.108+1986C>G c.2439C>G (p.Cys813Trp) c.2136C>G (p.Cys712Trp) n.2851C>G n.2494C>G | gnomAD v4 |
19 | g.11129640C>T | CA404099674 | LDLR | c.2775C>T (p.Cys925=) c.*586C>T (n.*586C>T) c.2397C>T (p.Cys799=) c.2517C>T (p.Cys839=) c.2771C>T c.2013C>T (p.Cys671=) c.2394C>T (p.Cys798=) c.1983C>T (p.Cys661=) c.2579C>T (p.Ala860Val) n.108+1986C>T c.2439C>T (p.Cys813=) c.2136C>T (p.Cys712=) n.2851C>T n.2494C>T | ClinVar |
19 | g.11129641C>A | CA404099677 | LDLR | c.2776C>A (p.His926Asn) c.*587C>A (n.*587C>A) c.2398C>A (p.His800Asn) c.2518C>A (p.His840Asn) c.2772C>A c.2014C>A (p.His672Asn) c.2395C>A (p.His799Asn) c.1984C>A (p.His662Asn) c.2580C>A (p.Ala860=) n.108+1987C>A c.2440C>A (p.His814Asn) c.2137C>A (p.His713Asn) n.2852C>A n.2495C>A | |
19 | g.11129641C>G | CA404099682 | LDLR | c.2776C>G (p.His926Asp) c.*587C>G (n.*587C>G) c.2398C>G (p.His800Asp) c.2518C>G (p.His840Asp) c.2772C>G c.2014C>G (p.His672Asp) c.2395C>G (p.His799Asp) c.1984C>G (p.His662Asp) c.2580C>G (p.Ala860=) n.108+1987C>G c.2440C>G (p.His814Asp) c.2137C>G (p.His713Asp) n.2852C>G n.2495C>G | |
19 | g.11129641C>T | CA404099686 | LDLR | c.2776C>T (p.His926Tyr) c.*587C>T (n.*587C>T) c.2398C>T (p.His800Tyr) c.2518C>T (p.His840Tyr) c.2772C>T c.2014C>T (p.His672Tyr) c.2395C>T (p.His799Tyr) c.1984C>T (p.His662Tyr) c.2580C>T (p.Ala860=) n.108+1987C>T c.2440C>T (p.His814Tyr) c.2137C>T (p.His713Tyr) n.2852C>T n.2495C>T | |
19 | g.11129642A= | CA2322780319 | LDLR | c.2777A= (p.His926=) c.*588A= (n.*588A=) c.2399A= (p.His800=) c.2519A= (p.His840=) c.2773A= c.2015A= (p.His672=) c.2396A= (p.His799=) c.1985A= (p.His662=) c.2581A= (p.Thr861=) n.108+1988A= c.2441A= (p.His814=) c.2138A= (p.His713=) n.2853A= n.2496A= | |
19 | g.11129642A>C | CA404099689 | LDLR | c.2777A>C (p.His926Pro) c.*588A>C (n.*588A>C) c.2399A>C (p.His800Pro) c.2519A>C (p.His840Pro) c.2773A>C c.2015A>C (p.His672Pro) c.2396A>C (p.His799Pro) c.1985A>C (p.His662Pro) c.2581A>C (p.Thr861Pro) n.108+1988A>C c.2441A>C (p.His814Pro) c.2138A>C (p.His713Pro) n.2853A>C n.2496A>C | |
19 | g.11129642A>G | CA404099688 | LDLR | c.2777A>G (p.His926Arg) c.*588A>G (n.*588A>G) c.2399A>G (p.His800Arg) c.2519A>G (p.His840Arg) c.2773A>G c.2015A>G (p.His672Arg) c.2396A>G (p.His799Arg) c.1985A>G (p.His662Arg) c.2581A>G (p.Thr861Ala) n.108+1988A>G c.2441A>G (p.His814Arg) c.2138A>G (p.His713Arg) n.2853A>G n.2496A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11129642A>T | CA404099687 | LDLR | c.2777A>T (p.His926Leu) c.*588A>T (n.*588A>T) c.2399A>T (p.His800Leu) c.2519A>T (p.His840Leu) c.2773A>T c.2015A>T (p.His672Leu) c.2396A>T (p.His799Leu) c.1985A>T (p.His662Leu) c.2581A>T (p.Thr861Ser) n.108+1988A>T c.2441A>T (p.His814Leu) c.2138A>T (p.His713Leu) n.2853A>T n.2496A>T | |
19 | g.11129643C>A | CA404099694 | LDLR | c.2778C>A (p.His926Gln) c.*589C>A (n.*589C>A) c.2400C>A (p.His800Gln) c.2520C>A (p.His840Gln) c.2774C>A c.2016C>A (p.His672Gln) c.2397C>A (p.His799Gln) c.1986C>A (p.His662Gln) c.2582C>A (p.Thr861Lys) n.108+1989C>A c.2442C>A (p.His814Gln) c.2139C>A (p.His713Gln) n.2854C>A n.2497C>A | |
19 | g.11129643C= | CA2322780320 | LDLR | c.2778C= (p.His926=) c.*589C= (n.*589C=) c.2400C= (p.His800=) c.2520C= (p.His840=) c.2774C= c.2016C= (p.His672=) c.2397C= (p.His799=) c.1986C= (p.His662=) c.2582C= (p.Thr861=) n.108+1989C= c.2442C= (p.His814=) c.2139C= (p.His713=) n.2854C= n.2497C= | |
19 | g.11129643C>G | CA404099696 | LDLR | c.2778C>G (p.His926Gln) c.*589C>G (n.*589C>G) c.2400C>G (p.His800Gln) c.2520C>G (p.His840Gln) c.2774C>G c.2016C>G (p.His672Gln) c.2397C>G (p.His799Gln) c.1986C>G (p.His662Gln) c.2582C>G (p.Thr861Arg) n.108+1989C>G c.2442C>G (p.His814Gln) c.2139C>G (p.His713Gln) n.2854C>G n.2497C>G | gnomAD v4 |
19 | g.11129643C>T | CA404099699 | LDLR | c.2778C>T (p.His926=) c.*589C>T (n.*589C>T) c.2400C>T (p.His800=) c.2520C>T (p.His840=) c.2774C>T c.2016C>T (p.His672=) c.2397C>T (p.His799=) c.1986C>T (p.His662=) c.2582C>T (p.Thr861Ile) n.108+1989C>T c.2442C>T (p.His814=) c.2139C>T (p.His713=) n.2854C>T n.2497C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11129644A>C | CA404099715 | LDLR | c.2779A>C (p.Asn927His) c.*590A>C (n.*590A>C) c.2401A>C (p.Asn801His) c.2521A>C (p.Asn841His) c.2775A>C c.2017A>C (p.Asn673His) c.2398A>C (p.Asn800His) c.1987A>C (p.Asn663His) c.2583A>C (p.Thr861=) n.108+1990A>C c.2443A>C (p.Asn815His) c.2140A>C (p.Asn714His) n.2855A>C n.2498A>C | |
19 | g.11129644A>G | CA404099720 | LDLR | c.2779A>G (p.Asn927Asp) c.*590A>G (n.*590A>G) c.2401A>G (p.Asn801Asp) c.2521A>G (p.Asn841Asp) c.2775A>G c.2017A>G (p.Asn673Asp) c.2398A>G (p.Asn800Asp) c.1987A>G (p.Asn663Asp) c.2583A>G (p.Thr861=) n.108+1990A>G c.2443A>G (p.Asn815Asp) c.2140A>G (p.Asn714Asp) n.2855A>G n.2498A>G | gnomAD v4 |
19 | g.11129644A>T | CA404099723 | LDLR | c.2779A>T (p.Asn927Tyr) c.*590A>T (n.*590A>T) c.2401A>T (p.Asn801Tyr) c.2521A>T (p.Asn841Tyr) c.2775A>T c.2017A>T (p.Asn673Tyr) c.2398A>T (p.Asn800Tyr) c.1987A>T (p.Asn663Tyr) c.2583A>T (p.Thr861=) n.108+1990A>T c.2443A>T (p.Asn815Tyr) c.2140A>T (p.Asn714Tyr) n.2855A>T n.2498A>T | |
19 | g.11129645A= | CA2322780321 | LDLR | c.2780A= (p.Asn927=) c.*591A= (n.*591A=) c.2402A= (p.Asn801=) c.2522A= (p.Asn841=) c.2776A= c.2018A= (p.Asn673=) c.2399A= (p.Asn800=) c.1988A= (p.Asn663=) c.2584A= (p.Thr862=) n.108+1991A= c.2444A= (p.Asn815=) c.2141A= (p.Asn714=) n.2856A= n.2499A= | |
19 | g.11129645A>C | CA404099728 | LDLR | c.2780A>C (p.Asn927Thr) c.*591A>C (n.*591A>C) c.2402A>C (p.Asn801Thr) c.2522A>C (p.Asn841Thr) c.2776A>C c.2018A>C (p.Asn673Thr) c.2399A>C (p.Asn800Thr) c.1988A>C (p.Asn663Thr) c.2584A>C (p.Thr862Pro) n.108+1991A>C c.2444A>C (p.Asn815Thr) c.2141A>C (p.Asn714Thr) n.2856A>C n.2499A>C | |
19 | g.11129645A>G | CA404099737 | LDLR | c.2780A>G (p.Asn927Ser) c.*591A>G (n.*591A>G) c.2402A>G (p.Asn801Ser) c.2522A>G (p.Asn841Ser) c.2776A>G c.2018A>G (p.Asn673Ser) c.2399A>G (p.Asn800Ser) c.1988A>G (p.Asn663Ser) c.2584A>G (p.Thr862Ala) n.108+1991A>G c.2444A>G (p.Asn815Ser) c.2141A>G (p.Asn714Ser) n.2856A>G n.2499A>G | dbSNP gnomAD v4 |
19 | g.11129645A>T | CA404099730 | LDLR | c.2780A>T (p.Asn927Ile) c.*591A>T (n.*591A>T) c.2402A>T (p.Asn801Ile) c.2522A>T (p.Asn841Ile) c.2776A>T c.2018A>T (p.Asn673Ile) c.2399A>T (p.Asn800Ile) c.1988A>T (p.Asn663Ile) c.2584A>T (p.Thr862Ser) n.108+1991A>T c.2444A>T (p.Asn815Ile) c.2141A>T (p.Asn714Ile) n.2856A>T n.2499A>T | |
19 | g.11129646C>A | CA404099741 | LDLR | c.2781C>A (p.Asn927Lys) c.*592C>A (n.*592C>A) c.2403C>A (p.Asn801Lys) c.2523C>A (p.Asn841Lys) c.2777C>A c.2019C>A (p.Asn673Lys) c.2400C>A (p.Asn800Lys) c.1989C>A (p.Asn663Lys) c.2585C>A (p.Thr862Asn) n.108+1992C>A c.2445C>A (p.Asn815Lys) c.2142C>A (p.Asn714Lys) n.2857C>A n.2500C>A | |
19 | g.11129646C= | CA2322780322 | LDLR | c.2781C= (p.Asn927=) c.*592C= (n.*592C=) c.2403C= (p.Asn801=) c.2523C= (p.Asn841=) c.2777C= c.2019C= (p.Asn673=) c.2400C= (p.Asn800=) c.1989C= (p.Asn663=) c.2585C= (p.Thr862=) n.108+1992C= c.2445C= (p.Asn815=) c.2142C= (p.Asn714=) n.2857C= n.2500C= | |
19 | g.11129646C>G | CA040912 | LDLR | c.2781C>G (p.Asn927Lys) c.*592C>G (n.*592C>G) c.2403C>G (p.Asn801Lys) c.2523C>G (p.Asn841Lys) c.2777C>G c.2019C>G (p.Asn673Lys) c.2400C>G (p.Asn800Lys) c.1989C>G (p.Asn663Lys) c.2585C>G (p.Thr862Ser) n.108+1992C>G c.2445C>G (p.Asn815Lys) c.2142C>G (p.Asn714Lys) n.2857C>G n.2500C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11129646C>T | CA404099746 | LDLR | c.2781C>T (p.Asn927=) c.*592C>T (n.*592C>T) c.2403C>T (p.Asn801=) c.2523C>T (p.Asn841=) c.2777C>T c.2019C>T (p.Asn673=) c.2400C>T (p.Asn800=) c.1989C>T (p.Asn663=) c.2585C>T (p.Thr862Ile) n.108+1992C>T c.2445C>T (p.Asn815=) c.2142C>T (p.Asn714=) n.2857C>T n.2500C>T | |
19 | g.11129647C>A | CA404099752 | LDLR | c.2782C>A (p.Gln928Lys) c.*593C>A (n.*593C>A) c.2404C>A (p.Gln802Lys) c.2524C>A (p.Gln842Lys) c.2778C>A c.2020C>A (p.Gln674Lys) c.2401C>A (p.Gln801Lys) c.1990C>A (p.Gln664Lys) c.2586C>A (p.Thr862=) n.108+1993C>A c.2446C>A (p.Gln816Lys) c.2143C>A (p.Gln715Lys) n.2858C>A n.2501C>A | |
19 | g.11129647C>G | CA404099754 | LDLR | c.2782C>G (p.Gln928Glu) c.*593C>G (n.*593C>G) c.2404C>G (p.Gln802Glu) c.2524C>G (p.Gln842Glu) c.2778C>G c.2020C>G (p.Gln674Glu) c.2401C>G (p.Gln801Glu) c.1990C>G (p.Gln664Glu) c.2586C>G (p.Thr862=) n.108+1993C>G c.2446C>G (p.Gln816Glu) c.2143C>G (p.Gln715Glu) n.2858C>G n.2501C>G | |
19 | g.11129647C>T | CA404099761 | LDLR | c.2782C>T (p.Gln928Ter) c.*593C>T (n.*593C>T) c.2404C>T (p.Gln802Ter) c.2524C>T (p.Gln842Ter) c.2778C>T c.2020C>T (p.Gln674Ter) c.2401C>T (p.Gln801Ter) c.1990C>T (p.Gln664Ter) c.2586C>T (p.Thr862=) n.108+1993C>T c.2446C>T (p.Gln816Ter) c.2143C>T (p.Gln715Ter) n.2858C>T n.2501C>T | |
19 | g.11129648A>C | CA404099764 | LDLR | c.2783A>C (p.Gln928Pro) c.*594A>C (n.*594A>C) c.2405A>C (p.Gln802Pro) c.2525A>C (p.Gln842Pro) c.2779A>C c.2021A>C (p.Gln674Pro) c.2402A>C (p.Gln801Pro) c.1991A>C (p.Gln664Pro) c.2587A>C (p.Arg863=) n.108+1994A>C c.2447A>C (p.Gln816Pro) c.2144A>C (p.Gln715Pro) n.2859A>C n.2502A>C | |
19 | g.11129648A>G | CA404099767 | LDLR | c.2783A>G (p.Gln928Arg) c.*594A>G (n.*594A>G) c.2405A>G (p.Gln802Arg) c.2525A>G (p.Gln842Arg) c.2779A>G c.2021A>G (p.Gln674Arg) c.2402A>G (p.Gln801Arg) c.1991A>G (p.Gln664Arg) c.2587A>G (p.Arg863Gly) n.108+1994A>G c.2447A>G (p.Gln816Arg) c.2144A>G (p.Gln715Arg) n.2859A>G n.2502A>G | ClinVar gnomAD v4 |
19 | g.11129648A>T | CA404099770 | LDLR | c.2783A>T (p.Gln928Leu) c.*594A>T (n.*594A>T) c.2405A>T (p.Gln802Leu) c.2525A>T (p.Gln842Leu) c.2779A>T c.2021A>T (p.Gln674Leu) c.2402A>T (p.Gln801Leu) c.1991A>T (p.Gln664Leu) c.2587A>T (p.Arg863Trp) n.108+1994A>T c.2447A>T (p.Gln816Leu) c.2144A>T (p.Gln715Leu) n.2859A>T n.2502A>T | |
19 | g.11129649G>A | CA404099775 | LDLR | c.2784G>A (p.Gln928=) c.*595G>A (n.*595G>A) c.2406G>A (p.Gln802=) c.2526G>A (p.Gln842=) c.2780G>A c.2022G>A (p.Gln674=) c.2403G>A (p.Gln801=) c.1992G>A (p.Gln664=) c.2588G>A (p.Arg863Lys) n.108+1995G>A c.2448G>A (p.Gln816=) c.2145G>A (p.Gln715=) n.2860G>A n.2503G>A | gnomAD v4 |
19 | g.11129649G>C | CA404099778 | LDLR | c.2784G>C (p.Gln928His) c.*595G>C (n.*595G>C) c.2406G>C (p.Gln802His) c.2526G>C (p.Gln842His) c.2780G>C c.2022G>C (p.Gln674His) c.2403G>C (p.Gln801His) c.1992G>C (p.Gln664His) c.2588G>C (p.Arg863Thr) n.108+1995G>C c.2448G>C (p.Gln816His) c.2145G>C (p.Gln715His) n.2860G>C n.2503G>C | |
19 | g.11129649G>T | CA404099781 | LDLR | c.2784G>T (p.Gln928His) c.*595G>T (n.*595G>T) c.2406G>T (p.Gln802His) c.2526G>T (p.Gln842His) c.2780G>T c.2022G>T (p.Gln674His) c.2403G>T (p.Gln801His) c.1992G>T (p.Gln664His) c.2588G>T (p.Arg863Met) n.108+1995G>T c.2448G>T (p.Gln816His) c.2145G>T (p.Gln715His) n.2860G>T n.2503G>T | |
19 | g.11129650G>A | CA404099784 | LDLR | c.2785G>A (p.Asp929Asn) c.*596G>A (n.*596G>A) c.2407G>A (p.Asp803Asn) c.2527G>A (p.Asp843Asn) c.2781G>A c.2023G>A (p.Asp675Asn) c.2404G>A (p.Asp802Asn) c.1993G>A (p.Asp665Asn) c.2589G>A (p.Arg863=) n.108+1996G>A c.2449G>A (p.Asp817Asn) c.2146G>A (p.Asp716Asn) n.2861G>A n.2504G>A | |
19 | g.11129650G>C | CA404099786 | LDLR | c.2785G>C (p.Asp929His) c.*596G>C (n.*596G>C) c.2407G>C (p.Asp803His) c.2527G>C (p.Asp843His) c.2781G>C c.2023G>C (p.Asp675His) c.2404G>C (p.Asp802His) c.1993G>C (p.Asp665His) c.2589G>C (p.Arg863Ser) n.108+1996G>C c.2449G>C (p.Asp817His) c.2146G>C (p.Asp716His) n.2861G>C n.2504G>C | |
19 | g.11129650G>T | CA404099785 | LDLR | c.2785G>T (p.Asp929Tyr) c.*596G>T (n.*596G>T) c.2407G>T (p.Asp803Tyr) c.2527G>T (p.Asp843Tyr) c.2781G>T c.2023G>T (p.Asp675Tyr) c.2404G>T (p.Asp802Tyr) c.1993G>T (p.Asp665Tyr) c.2589G>T (p.Arg863Ser) n.108+1996G>T c.2449G>T (p.Asp817Tyr) c.2146G>T (p.Asp716Tyr) n.2861G>T n.2504G>T |