WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.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.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 | 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 | |
| 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 |