| 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.11129513_11129530dup | CA2695228327 | LDLR | c.2648_2665dup (p.Leu888_Cys889insLeuLeuLeuValPheLeu) c.*459_*476dup (n.*459_*476dup) c.2270_2287dup (p.Leu762_Cys763insLeuLeuLeuValPheLeu) c.2390_2407dup (p.Leu802_Cys803insLeuLeuLeuValPheLeu) c.2644_2661dup c.1886_1903dup (p.Leu634_Cys635insLeuLeuLeuValPheLeu) c.2267_2284dup (p.Leu761_Cys762insLeuLeuLeuValPheLeu) c.1856_1873dup (p.Leu624_Cys625insLeuLeuLeuValPheLeu) c.2452_2469dup (p.Phe823_Ala824insCysSerSerSerSerPhe) n.108+1859_108+1876dup c.2312_2329dup (p.Leu776_Cys777insLeuLeuLeuValPheLeu) c.2009_2026dup (p.Leu675_Cys676insLeuLeuLeuValPheLeu) n.2400_2417dup n.2724_2741dup n.2367_2384dup | |
| 19 | g.11129516_11129532del | CA645373240 | LDLR | c.2651_2667del (p.Leu884ProfsTer13) c.*462_*478del (n.*462_*478del) c.2273_2289del (p.Leu758ProfsTer13) c.2393_2409del (p.Leu798ProfsTer13) c.2647_2663del c.1889_1905del (p.Leu630ProfsTer13) c.2270_2286del (p.Leu757ProfsTer13) c.1859_1875del (p.Leu620ProfsTer13) c.2455_2471del (p.Ser819LeufsTer?) n.108+1862_108+1878del c.2315_2331del (p.Leu772ProfsTer13) c.2012_2028del (p.Leu671ProfsTer13) n.2403_2419del n.2727_2743del n.2370_2386del | ClinVar dbSNP |
| 19 | g.11129520_11129534del | CA1139654948 | LDLR | c.2655_2669del (p.Val886_Leu890del) c.*466_*480del (n.*466_*480del) c.2277_2291del (p.Val760_Leu764del) c.2397_2411del (p.Val800_Leu804del) c.2651_2665del c.1893_1907del (p.Val632_Leu636del) c.2274_2288del (p.Val759_Leu763del) c.1863_1877del (p.Val622_Leu626del) c.2459_2473del (p.Ser820_Ala824del) n.108+1866_108+1880del c.2319_2333del (p.Val774_Leu778del) c.2016_2030del (p.Val673_Leu677del) n.2407_2421del n.2731_2745del n.2374_2388del | |
| 19 | g.11129519_11129535delinsTCGTCTTCCTTTGCCTG | CA2322780247 | LDLR | c.2654_2670delinsTCGTCTTCCTTTGCCTG (p.Leu885=) c.*465_*481delinsTCGTCTTCCTTTGCCTG (n.*465_*481delinsTCGTCTTCCTTTGCCTG) c.2276_2292delinsTCGTCTTCCTTTGCCTG (p.Leu759=) c.2396_2412delinsTCGTCTTCCTTTGCCTG (p.Leu799=) c.2650_2666delinsTCGTCTTCCTTTGCCTG c.1892_1908delinsTCGTCTTCCTTTGCCTG (p.Leu631=) c.2273_2289delinsTCGTCTTCCTTTGCCTG (p.Leu758=) c.1862_1878delinsTCGTCTTCCTTTGCCTG (p.Leu621=) c.2458_2474delinsTCGTCTTCCTTTGCCTG (p.Ser820=) n.108+1865_108+1881delinsTCGTCTTCCTTTGCCTG c.2318_2334delinsTCGTCTTCCTTTGCCTG (p.Leu773=) c.2015_2031delinsTCGTCTTCCTTTGCCTG (p.Leu672=) n.2406_2422delinsTCGTCTTCCTTTGCCTG n.2730_2746delinsTCGTCTTCCTTTGCCTG n.2373_2389delinsTCGTCTTCCTTTGCCTG | |
| 19 | g.11129520_11129535del | CA10585851 | LDLR | c.2655_2670del (p.Val886GlyfsTer?) c.*466_*481del (n.*466_*481del) c.2277_2292del (p.Val760GlyfsTer?) c.2397_2412del (p.Val800GlyfsTer?) c.2651_2666del c.1893_1908del (p.Val632GlyfsTer?) c.2274_2289del (p.Val759GlyfsTer?) c.1863_1878del (p.Val622GlyfsTer?) c.2459_2474del (p.Ser820TrpfsTer12) n.108+1866_108+1881del c.2319_2334del (p.Val774GlyfsTer?) c.2016_2031del (p.Val673GlyfsTer?) n.2407_2422del n.2731_2746del n.2374_2389del | ClinVar dbSNP |
| 19 | g.11129520_11129538delinsCGTCTTCCTTTGCCTGGGG | CA2322780249 | LDLR | c.2655_2673delinsCGTCTTCCTTTGCCTGGGG (p.Leu885=) c.*466_*484delinsCGTCTTCCTTTGCCTGGGG (n.*466_*484delinsCGTCTTCCTTTGCCTGGGG) c.2277_2295delinsCGTCTTCCTTTGCCTGGGG (p.Leu759=) c.2397_2415delinsCGTCTTCCTTTGCCTGGGG (p.Leu799=) c.2651_2669delinsCGTCTTCCTTTGCCTGGGG c.1893_1911delinsCGTCTTCCTTTGCCTGGGG (p.Leu631=) c.2274_2292delinsCGTCTTCCTTTGCCTGGGG (p.Leu758=) c.1863_1881delinsCGTCTTCCTTTGCCTGGGG (p.Leu621=) c.2459_2477delinsCGTCTTCCTTTGCCTGGGG (p.Ser820=) n.108+1866_108+1884delinsCGTCTTCCTTTGCCTGGGG c.2319_2337delinsCGTCTTCCTTTGCCTGGGG (p.Leu773=) c.2016_2034delinsCGTCTTCCTTTGCCTGGGG (p.Leu672=) n.2407_2425delinsCGTCTTCCTTTGCCTGGGG n.2731_2749delinsCGTCTTCCTTTGCCTGGGG n.2374_2392delinsCGTCTTCCTTTGCCTGGGG | |
| 19 | g.11129530_11129547dup | CA10585855 | LDLR | c.2665_2682dup (p.Leu894_Leu895insCysLeuGlyValPheLeu) c.*476_*493dup (n.*476_*493dup) c.2287_2304dup (p.Leu768_Leu769insCysLeuGlyValPheLeu) c.2407_2424dup (p.Leu808_Leu809insCysLeuGlyValPheLeu) c.2661_2678dup c.1903_1920dup (p.Leu640_Leu641insCysLeuGlyValPheLeu) c.2284_2301dup (p.Leu767_Leu768insCysLeuGlyValPheLeu) c.1873_1890dup (p.Leu630_Leu631insCysLeuGlyValPheLeu) c.2469_2486dup (p.Phe829_Tyr830insAlaTrpGlySerSerPhe) n.108+1876_108+1893dup c.2329_2346dup (p.Leu782_Leu783insCysLeuGlyValPheLeu) c.2026_2043dup (p.Leu681_Leu682insCysLeuGlyValPheLeu) n.2417_2434dup n.2741_2758dup n.2384_2401dup | ClinVar dbSNP |
| 19 | g.11129530_11129547del | CA645509300 | LDLR | c.2665_2682del (p.Cys889_Leu894del) c.*476_*493del (n.*476_*493del) c.2287_2304del (p.Cys763_Leu768del) c.2407_2424del (p.Cys803_Leu808del) c.2661_2678del c.1903_1920del (p.Cys635_Leu640del) c.2284_2301del (p.Cys762_Leu767del) c.1873_1890del (p.Cys625_Leu630del) c.2469_2486del (p.Ala824_Phe829del) n.108+1876_108+1893del c.2329_2346del (p.Cys777_Leu782del) c.2026_2043del (p.Cys676_Leu681del) n.2417_2434del n.2741_2758del n.2384_2401del | ClinVar dbSNP |
| 19 | g.11129530T>A | CA404098400 | LDLR | c.2665T>A (p.Cys889Ser) c.*476T>A (n.*476T>A) c.2287T>A (p.Cys763Ser) c.2407T>A (p.Cys803Ser) c.2661T>A c.1903T>A (p.Cys635Ser) c.2284T>A (p.Cys762Ser) c.1873T>A (p.Cys625Ser) c.2469T>A (p.Phe823Leu) n.108+1876T>A c.2329T>A (p.Cys777Ser) c.2026T>A (p.Cys676Ser) n.2417T>A n.2741T>A n.2384T>A | |
| 19 | g.11129530T>C | CA16609822 | LDLR | c.2665T>C (p.Cys889Arg) c.*476T>C (n.*476T>C) c.2287T>C (p.Cys763Arg) c.2407T>C (p.Cys803Arg) c.2661T>C c.1903T>C (p.Cys635Arg) c.2284T>C (p.Cys762Arg) c.1873T>C (p.Cys625Arg) c.2469T>C (p.Phe823=) n.108+1876T>C c.2329T>C (p.Cys777Arg) c.2026T>C (p.Cys676Arg) n.2417T>C n.2741T>C n.2384T>C | ClinVar dbSNP |
| 19 | g.11129530T>G | CA404098402 | LDLR | c.2665T>G (p.Cys889Gly) c.*476T>G (n.*476T>G) c.2287T>G (p.Cys763Gly) c.2407T>G (p.Cys803Gly) c.2661T>G c.1903T>G (p.Cys635Gly) c.2284T>G (p.Cys762Gly) c.1873T>G (p.Cys625Gly) c.2469T>G (p.Phe823Leu) n.108+1876T>G c.2329T>G (p.Cys777Gly) c.2026T>G (p.Cys676Gly) n.2417T>G n.2741T>G n.2384T>G | |
| 19 | g.11129530T= | CA2322780258 | LDLR | c.2665T= (p.Cys889=) c.*476T= (n.*476T=) c.2287T= (p.Cys763=) c.2407T= (p.Cys803=) c.2661T= c.1903T= (p.Cys635=) c.2284T= (p.Cys762=) c.1873T= (p.Cys625=) c.2469T= (p.Phe823=) n.108+1876T= c.2329T= (p.Cys777=) c.2026T= (p.Cys676=) n.2417T= n.2741T= n.2384T= | |
| 19 | g.11129531del | CA2695228330 | LDLR | c.2666del (p.Cys889SerfsTer?) c.*477del (n.*477del) c.2288del (p.Cys763SerfsTer?) c.2408del (p.Cys803SerfsTer?) c.2662del c.1904del (p.Cys635SerfsTer?) c.2285del (p.Cys762SerfsTer?) c.1874del (p.Cys625SerfsTer?) c.2470del (p.Ala824ProfsTer13) n.108+1877del c.2330del (p.Cys777SerfsTer?) c.2027del (p.Cys676SerfsTer?) n.2418del n.2742del n.2385del | |
| 19 | g.11129531G>A | CA404098408 | LDLR | c.2666G>A (p.Cys889Tyr) c.*477G>A (n.*477G>A) c.2288G>A (p.Cys763Tyr) c.2408G>A (p.Cys803Tyr) c.2662G>A c.1904G>A (p.Cys635Tyr) c.2285G>A (p.Cys762Tyr) c.1874G>A (p.Cys625Tyr) c.2470G>A (p.Ala824Thr) n.108+1877G>A c.2330G>A (p.Cys777Tyr) c.2027G>A (p.Cys676Tyr) n.2418G>A n.2742G>A n.2385G>A | gnomAD v4 |
| 19 | g.11129531G>C | CA404098407 | LDLR | c.2666G>C (p.Cys889Ser) c.*477G>C (n.*477G>C) c.2288G>C (p.Cys763Ser) c.2408G>C (p.Cys803Ser) c.2662G>C c.1904G>C (p.Cys635Ser) c.2285G>C (p.Cys762Ser) c.1874G>C (p.Cys625Ser) c.2470G>C (p.Ala824Pro) n.108+1877G>C c.2330G>C (p.Cys777Ser) c.2027G>C (p.Cys676Ser) n.2418G>C n.2742G>C n.2385G>C | ClinVar gnomAD v4 |
| 19 | g.11129531G>T | CA404098406 | LDLR | c.2666G>T (p.Cys889Phe) c.*477G>T (n.*477G>T) c.2288G>T (p.Cys763Phe) c.2408G>T (p.Cys803Phe) c.2662G>T c.1904G>T (p.Cys635Phe) c.2285G>T (p.Cys762Phe) c.1874G>T (p.Cys625Phe) c.2470G>T (p.Ala824Ser) n.108+1877G>T c.2330G>T (p.Cys777Phe) c.2027G>T (p.Cys676Phe) n.2418G>T n.2742G>T n.2385G>T | |
| 19 | g.11129531_11129532dup | CA10585856 | LDLR | c.2666_2667dup (p.Leu890AlafsTer?) c.*477_*478dup (n.*477_*478dup) c.2288_2289dup (p.Leu764AlafsTer?) c.2408_2409dup (p.Leu804AlafsTer?) c.2662_2663dup c.1904_1905dup (p.Leu636AlafsTer?) c.2285_2286dup (p.Leu763AlafsTer?) c.1874_1875dup (p.Leu626AlafsTer?) c.2470_2471dup (p.Trp825ProfsTer13) n.108+1877_108+1878dup c.2330_2331dup (p.Leu778AlafsTer?) c.2027_2028dup (p.Leu677AlafsTer?) n.2418_2419dup n.2742_2743dup n.2385_2386dup | ClinVar dbSNP |
| 19 | g.11129531_11129548dup | CA2739276489 | LDLR | c.2666_2683dup (p.Leu894_Leu895insArgLeuGlyValPheLeu) c.*477_*494dup (n.*477_*494dup) c.2288_2305dup (p.Leu768_Leu769insArgLeuGlyValPheLeu) c.2408_2425dup (p.Leu808_Leu809insArgLeuGlyValPheLeu) c.2662_2679dup c.1904_1921dup (p.Leu640_Leu641insArgLeuGlyValPheLeu) c.2285_2302dup (p.Leu767_Leu768insArgLeuGlyValPheLeu) c.1874_1891dup (p.Leu630_Leu631insArgLeuGlyValPheLeu) c.2470_2487dup (p.Phe829_Tyr830insAlaTrpGlySerSerPhe) n.108+1877_108+1894dup c.2330_2347dup (p.Leu782_Leu783insArgLeuGlyValPheLeu) c.2027_2044dup (p.Leu681_Leu682insArgLeuGlyValPheLeu) n.2418_2435dup n.2742_2759dup n.2385_2402dup | ClinVar |
| 19 | g.11129532C>A | CA404098409 | LDLR | c.2667C>A (p.Cys889Ter) c.*478C>A (n.*478C>A) c.2289C>A (p.Cys763Ter) c.2409C>A (p.Cys803Ter) c.2663C>A c.1905C>A (p.Cys635Ter) c.2286C>A (p.Cys762Ter) c.1875C>A (p.Cys625Ter) c.2471C>A (p.Ala824Asp) n.108+1878C>A c.2331C>A (p.Cys777Ter) c.2028C>A (p.Cys676Ter) n.2419C>A n.2743C>A n.2386C>A | dbSNP |
| 19 | g.11129532C= | CA2322780259 | LDLR | c.2667C= (p.Cys889=) c.*478C= (n.*478C=) c.2289C= (p.Cys763=) c.2409C= (p.Cys803=) c.2663C= c.1905C= (p.Cys635=) c.2286C= (p.Cys762=) c.1875C= (p.Cys625=) c.2471C= (p.Ala824=) n.108+1878C= c.2331C= (p.Cys777=) c.2028C= (p.Cys676=) n.2419C= n.2743C= n.2386C= | |
| 19 | g.11129532C>G | CA404098411 | LDLR | c.2667C>G (p.Cys889Trp) c.*478C>G (n.*478C>G) c.2289C>G (p.Cys763Trp) c.2409C>G (p.Cys803Trp) c.2663C>G c.1905C>G (p.Cys635Trp) c.2286C>G (p.Cys762Trp) c.1875C>G (p.Cys625Trp) c.2471C>G (p.Ala824Gly) n.108+1878C>G c.2331C>G (p.Cys777Trp) c.2028C>G (p.Cys676Trp) n.2419C>G n.2743C>G n.2386C>G | |
| 19 | g.11129532C>T | CA404098413 | LDLR | c.2667C>T (p.Cys889=) c.*478C>T (n.*478C>T) c.2289C>T (p.Cys763=) c.2409C>T (p.Cys803=) c.2663C>T c.1905C>T (p.Cys635=) c.2286C>T (p.Cys762=) c.1875C>T (p.Cys625=) c.2471C>T (p.Ala824Val) n.108+1878C>T c.2331C>T (p.Cys777=) c.2028C>T (p.Cys676=) n.2419C>T n.2743C>T n.2386C>T | ClinVar dbSNP |
| 19 | g.11129533C>A | CA404098416 | LDLR | c.2668C>A (p.Leu890Met) c.*479C>A (n.*479C>A) c.2290C>A (p.Leu764Met) c.2410C>A (p.Leu804Met) c.2664C>A c.1906C>A (p.Leu636Met) c.2287C>A (p.Leu763Met) c.1876C>A (p.Leu626Met) c.2472C>A (p.Ala824=) n.108+1879C>A c.2332C>A (p.Leu778Met) c.2029C>A (p.Leu677Met) n.2420C>A n.2744C>A n.2387C>A | dbSNP |
| 19 | g.11129533C= | CA2322780260 | LDLR | c.2668C= (p.Leu890=) c.*479C= (n.*479C=) c.2290C= (p.Leu764=) c.2410C= (p.Leu804=) c.2664C= c.1906C= (p.Leu636=) c.2287C= (p.Leu763=) c.1876C= (p.Leu626=) c.2472C= (p.Ala824=) n.108+1879C= c.2332C= (p.Leu778=) c.2029C= (p.Leu677=) n.2420C= n.2744C= n.2387C= | |
| 19 | g.11129533C>G | CA404098419 | LDLR | c.2668C>G (p.Leu890Val) c.*479C>G (n.*479C>G) c.2290C>G (p.Leu764Val) c.2410C>G (p.Leu804Val) c.2664C>G c.1906C>G (p.Leu636Val) c.2287C>G (p.Leu763Val) c.1876C>G (p.Leu626Val) c.2472C>G (p.Ala824=) n.108+1879C>G c.2332C>G (p.Leu778Val) c.2029C>G (p.Leu677Val) n.2420C>G n.2744C>G n.2387C>G | |
| 19 | g.11129533C>T | CA505743515 | LDLR | c.2668C>T (p.Leu890=) c.*479C>T (n.*479C>T) c.2290C>T (p.Leu764=) c.2410C>T (p.Leu804=) c.2664C>T c.1906C>T (p.Leu636=) c.2287C>T (p.Leu763=) c.1876C>T (p.Leu626=) c.2472C>T (p.Ala824=) n.108+1879C>T c.2332C>T (p.Leu778=) c.2029C>T (p.Leu677=) n.2420C>T n.2744C>T n.2387C>T | ClinVar |
| 19 | g.11129533_11129534dup | CA645611974 | LDLR | c.2668_2669dup (p.Gly891TrpfsTer?) c.*479_*480dup (n.*479_*480dup) c.2290_2291dup (p.Gly765TrpfsTer?) c.2410_2411dup (p.Gly805TrpfsTer?) c.2664_2665dup c.1906_1907dup (p.Gly637TrpfsTer?) c.2287_2288dup (p.Gly764TrpfsTer?) c.1876_1877dup (p.Gly627TrpfsTer?) c.2472_2473dup (p.Trp825SerfsTer13) n.108+1879_108+1880dup c.2332_2333dup (p.Gly779TrpfsTer?) c.2029_2030dup (p.Gly678TrpfsTer?) n.2420_2421dup n.2744_2745dup n.2387_2388dup | COSMIC |
| 19 | g.11129534del | CA2695228331 | LDLR | c.2669del (p.Leu890ArgfsTer?) c.*480del (n.*480del) c.2291del (p.Leu764ArgfsTer?) c.2411del (p.Leu804ArgfsTer?) c.2665del c.1907del (p.Leu636ArgfsTer?) c.2288del (p.Leu763ArgfsTer?) c.1877del (p.Leu626ArgfsTer?) c.2473del (p.Trp825GlyfsTer12) n.108+1880del c.2333del (p.Leu778ArgfsTer?) c.2030del (p.Leu677ArgfsTer?) n.2421del n.2745del n.2388del | |
| 19 | g.11129534T>A | CA404098423 | LDLR | c.2669T>A (p.Leu890Gln) c.*480T>A (n.*480T>A) c.2291T>A (p.Leu764Gln) c.2411T>A (p.Leu804Gln) c.2665T>A c.1907T>A (p.Leu636Gln) c.2288T>A (p.Leu763Gln) c.1877T>A (p.Leu626Gln) c.2473T>A (p.Trp825Arg) n.108+1880T>A c.2333T>A (p.Leu778Gln) c.2030T>A (p.Leu677Gln) n.2421T>A n.2745T>A n.2388T>A | |
| 19 | g.11129534T>C | CA10585857 | LDLR | c.2669T>C (p.Leu890Pro) c.*480T>C (n.*480T>C) c.2291T>C (p.Leu764Pro) c.2411T>C (p.Leu804Pro) c.2665T>C c.1907T>C (p.Leu636Pro) c.2288T>C (p.Leu763Pro) c.1877T>C (p.Leu626Pro) c.2473T>C (p.Trp825Arg) n.108+1880T>C c.2333T>C (p.Leu778Pro) c.2030T>C (p.Leu677Pro) n.2421T>C n.2745T>C n.2388T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11129534T>G | CA404098426 | LDLR | c.2669T>G (p.Leu890Arg) c.*480T>G (n.*480T>G) c.2291T>G (p.Leu764Arg) c.2411T>G (p.Leu804Arg) c.2665T>G c.1907T>G (p.Leu636Arg) c.2288T>G (p.Leu763Arg) c.1877T>G (p.Leu626Arg) c.2473T>G (p.Trp825Gly) n.108+1880T>G c.2333T>G (p.Leu778Arg) c.2030T>G (p.Leu677Arg) n.2421T>G n.2745T>G n.2388T>G | |
| 19 | g.11129534T= | CA2322780262 | LDLR | c.2669T= (p.Leu890=) c.*480T= (n.*480T=) c.2291T= (p.Leu764=) c.2411T= (p.Leu804=) c.2665T= c.1907T= (p.Leu636=) c.2288T= (p.Leu763=) c.1877T= (p.Leu626=) c.2473T= (p.Trp825=) n.108+1880T= c.2333T= (p.Leu778=) c.2030T= (p.Leu677=) n.2421T= n.2745T= n.2388T= | |
| 19 | g.11129534_11129535delinsTG | CA2322780261 | LDLR | c.2669_2670delinsTG (p.Leu890=) c.*480_*481delinsTG (n.*480_*481delinsTG) c.2291_2292delinsTG (p.Leu764=) c.2411_2412delinsTG (p.Leu804=) c.2665_2666delinsTG c.1907_1908delinsTG (p.Leu636=) c.2288_2289delinsTG (p.Leu763=) c.1877_1878delinsTG (p.Leu626=) c.2473_2474delinsTG (p.Trp825=) n.108+1880_108+1881delinsTG c.2333_2334delinsTG (p.Leu778=) c.2030_2031delinsTG (p.Leu677=) n.2421_2422delinsTG n.2745_2746delinsTG n.2388_2389delinsTG | |
| 19 | g.11129535G>A | CA404098430 | LDLR | c.2670G>A (p.Leu890=) c.*481G>A (n.*481G>A) c.2292G>A (p.Leu764=) c.2412G>A (p.Leu804=) c.2666G>A c.1908G>A (p.Leu636=) c.2289G>A (p.Leu763=) c.1878G>A (p.Leu626=) c.2474G>A (p.Trp825Ter) n.108+1881G>A c.2334G>A (p.Leu778=) c.2031G>A (p.Leu677=) n.2422G>A n.2746G>A n.2389G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11129535G>C | CA404098437 | LDLR | c.2670G>C (p.Leu890=) c.*481G>C (n.*481G>C) c.2292G>C (p.Leu764=) c.2412G>C (p.Leu804=) c.2666G>C c.1908G>C (p.Leu636=) c.2289G>C (p.Leu763=) c.1878G>C (p.Leu626=) c.2474G>C (p.Trp825Ser) n.108+1881G>C c.2334G>C (p.Leu778=) c.2031G>C (p.Leu677=) n.2422G>C n.2746G>C n.2389G>C | |
| 19 | g.11129535G= | CA2322780263 | LDLR | c.2670G= (p.Leu890=) c.*481G= (n.*481G=) c.2292G= (p.Leu764=) c.2412G= (p.Leu804=) c.2666G= c.1908G= (p.Leu636=) c.2289G= (p.Leu763=) c.1878G= (p.Leu626=) c.2474G= (p.Trp825=) n.108+1881G= c.2334G= (p.Leu778=) c.2031G= (p.Leu677=) n.2422G= n.2746G= n.2389G= | |
| 19 | g.11129535G>T | CA404098440 | LDLR | c.2670G>T (p.Leu890=) c.*481G>T (n.*481G>T) c.2292G>T (p.Leu764=) c.2412G>T (p.Leu804=) c.2666G>T c.1908G>T (p.Leu636=) c.2289G>T (p.Leu763=) c.1878G>T (p.Leu626=) c.2474G>T (p.Trp825Leu) n.108+1881G>T c.2334G>T (p.Leu778=) c.2031G>T (p.Leu677=) n.2422G>T n.2746G>T n.2389G>T | dbSNP |
| 19 | g.11129539dup | CA040715 | LDLR | c.2674dup (p.Val892GlyfsTer11) c.*485dup (n.*485dup) c.2296dup (p.Val766GlyfsTer11) c.2416dup (p.Val806GlyfsTer11) c.2670dup c.1912dup (p.Val638GlyfsTer11) c.2293dup (p.Val765GlyfsTer11) c.1882dup (p.Val628GlyfsTer11) c.2478dup (p.Ser827ValfsTer?) n.108+1885dup c.2338dup (p.Val780GlyfsTer11) c.2035dup (p.Val679GlyfsTer11) n.2426dup n.2750dup n.2393dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11129538_11129539dup | CA2695228332 | LDLR | c.2673_2674dup (p.Val892GlyfsTer?) c.*484_*485dup (n.*484_*485dup) c.2295_2296dup (p.Val766GlyfsTer?) c.2415_2416dup (p.Val806GlyfsTer?) c.2669_2670dup c.1911_1912dup (p.Val638GlyfsTer?) c.2292_2293dup (p.Val765GlyfsTer?) c.1881_1882dup (p.Val628GlyfsTer?) c.2477_2478dup (p.Ser827GlyfsTer11) n.108+1884_108+1885dup c.2337_2338dup (p.Val780GlyfsTer?) c.2034_2035dup (p.Val679GlyfsTer?) n.2425_2426dup n.2749_2750dup n.2392_2393dup | |
| 19 | g.11129539del | CA10585859 | LDLR | c.2674del (p.Val892SerfsTer?) c.*485del (n.*485del) c.2296del (p.Val766SerfsTer?) c.2416del (p.Val806SerfsTer?) c.2670del c.1912del (p.Val638SerfsTer?) c.2293del (p.Val765SerfsTer?) c.1882del (p.Val628SerfsTer?) c.2478del (p.Ser827LeufsTer10) n.108+1885del c.2338del (p.Val780SerfsTer?) c.2035del (p.Val679SerfsTer?) n.2426del n.2750del n.2393del | ClinVar dbSNP |
| 19 | g.11129536G>A | CA10585858 | LDLR | c.2671G>A (p.Gly891Arg) c.*482G>A (n.*482G>A) c.2293G>A (p.Gly765Arg) c.2413G>A (p.Gly805Arg) c.2667G>A c.1909G>A (p.Gly637Arg) c.2290G>A (p.Gly764Arg) c.1879G>A (p.Gly627Arg) c.2475G>A (p.Trp825Ter) n.108+1882G>A c.2335G>A (p.Gly779Arg) c.2032G>A (p.Gly678Arg) n.2423G>A n.2747G>A n.2390G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.11129536G>C | CA404098452 | LDLR | c.2671G>C (p.Gly891Arg) c.*482G>C (n.*482G>C) c.2293G>C (p.Gly765Arg) c.2413G>C (p.Gly805Arg) c.2667G>C c.1909G>C (p.Gly637Arg) c.2290G>C (p.Gly764Arg) c.1879G>C (p.Gly627Arg) c.2475G>C (p.Trp825Cys) n.108+1882G>C c.2335G>C (p.Gly779Arg) c.2032G>C (p.Gly678Arg) n.2423G>C n.2747G>C n.2390G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11129536G= | CA2322780264 | LDLR | c.2671G= (p.Gly891=) c.*482G= (n.*482G=) c.2293G= (p.Gly765=) c.2413G= (p.Gly805=) c.2667G= c.1909G= (p.Gly637=) c.2290G= (p.Gly764=) c.1879G= (p.Gly627=) c.2475G= (p.Trp825=) n.108+1882G= c.2335G= (p.Gly779=) c.2032G= (p.Gly678=) n.2423G= n.2747G= n.2390G= | |
| 19 | g.11129536G>T | CA404098449 | LDLR | c.2671G>T (p.Gly891Trp) c.*482G>T (n.*482G>T) c.2293G>T (p.Gly765Trp) c.2413G>T (p.Gly805Trp) c.2667G>T c.1909G>T (p.Gly637Trp) c.2290G>T (p.Gly764Trp) c.1879G>T (p.Gly627Trp) c.2475G>T (p.Trp825Cys) n.108+1882G>T c.2335G>T (p.Gly779Trp) c.2032G>T (p.Gly678Trp) n.2423G>T n.2747G>T n.2390G>T |