UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11122220_11129195del | CA2573320454 | LDLR | c.2399-954_2648-318del c.*210-954_*459-318del c.2021-954_2270-318del c.2141-954_2390-318del c.2395-954_2644-318del c.1637-954_1886-318del c.2018-954_2267-318del c.1607-954_1856-318del c.2141-954_2390-256del c.2141-954_2312-318del c.1760-954_2009-318del n.2151-954_2400-318del n.2475-954_2724-318del n.2118-954_2367-318del | |
| 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.11128017_11128047delinsACGTTGCTGGCAGAGGAAATGAGAAGAAGCC | CA2322779515 | LDLR | c.2579_2609delinsACGTTGCTGGCAGAGGAAATGAGAAGAAGCC (p.Asp860=) c.*390_*420delinsACGTTGCTGGCAGAGGAAATGAGAAGAAGCC (n.*390_*420delinsACGTTGCTGGCAGAGGAAATGAGAAGAAGCC) c.2201_2231delinsACGTTGCTGGCAGAGGAAATGAGAAGAAGCC (p.Asp734=) c.2321_2351delinsACGTTGCTGGCAGAGGAAATGAGAAGAAGCC (p.Asp774=) c.2575_2605delinsACGTTGCTGGCAGAGGAAATGAGAAGAAGCC c.1817_1847delinsACGTTGCTGGCAGAGGAAATGAGAAGAAGCC (p.Asp606=) c.2198_2228delinsACGTTGCTGGCAGAGGAAATGAGAAGAAGCC (p.Asp733=) c.1787_1817delinsACGTTGCTGGCAGAGGAAATGAGAAGAAGCC (p.Asp596=) n.108+363_108+393delinsACGTTGCTGGCAGAGGAAATGAGAAGAAGCC c.2312-1496_2312-1466delinsACGTTGCTGGCAGAGGAAATGAGAAGAAGCC (n.2312-1496_2312-1466delinsACGTTGCTGGCAGAGGAAATGAGAAGAAGCC) c.1940_1970delinsACGTTGCTGGCAGAGGAAATGAGAAGAAGCC (p.Asp647=) n.2331_2361delinsACGTTGCTGGCAGAGGAAATGAGAAGAAGCC n.2655_2685delinsACGTTGCTGGCAGAGGAAATGAGAAGAAGCC n.2298_2328delinsACGTTGCTGGCAGAGGAAATGAGAAGAAGCC | |
| 19 | g.11128019_11128048del | CA645372641 | LDLR | c.2581_2610del (p.Val861_Pro870del) c.*392_*421del (n.*392_*421del) c.2203_2232del (p.Val735_Pro744del) c.2323_2352del (p.Val775_Pro784del) c.2577_2606del c.1819_1848del (p.Val607_Pro616del) c.2200_2229del (p.Val734_Pro743del) c.1789_1818del (p.Val597_Pro606del) n.108+365_108+394del c.2312-1494_2312-1465del (n.2312-1494_2312-1465del) c.1942_1971del (p.Val648_Pro657del) n.2333_2362del n.2657_2686del n.2300_2329del | ClinVar dbSNP |
| 19 | g.11128031_11128049delinsGGAAATGAGAAGAAGCCCA | CA2322779528 | LDLR | c.2593_2611delinsGGAAATGAGAAGAAGCCCA (p.Gly865=) c.*404_*422delinsGGAAATGAGAAGAAGCCCA (n.*404_*422delinsGGAAATGAGAAGAAGCCCA) c.2215_2233delinsGGAAATGAGAAGAAGCCCA (p.Gly739=) c.2335_2353delinsGGAAATGAGAAGAAGCCCA (p.Gly779=) c.2589_2607delinsGGAAATGAGAAGAAGCCCA c.1831_1849delinsGGAAATGAGAAGAAGCCCA (p.Gly611=) c.2212_2230delinsGGAAATGAGAAGAAGCCCA (p.Gly738=) c.1801_1819delinsGGAAATGAGAAGAAGCCCA (p.Gly601=) n.108+377_108+395delinsGGAAATGAGAAGAAGCCCA c.2312-1482_2312-1464delinsGGAAATGAGAAGAAGCCCA (n.2312-1482_2312-1464delinsGGAAATGAGAAGAAGCCCA) c.1954_1972delinsGGAAATGAGAAGAAGCCCA (p.Gly652=) n.2345_2363delinsGGAAATGAGAAGAAGCCCA n.2669_2687delinsGGAAATGAGAAGAAGCCCA n.2312_2330delinsGGAAATGAGAAGAAGCCCA | |
| 19 | g.11128033_11128050del | CA2322779529 | LDLR | c.2595_2612del (p.Asn866_Ser871del) c.*406_*423del (n.*406_*423del) c.2217_2234del (p.Asn740_Ser745del) c.2337_2354del (p.Asn780_Ser785del) c.2591_2608del c.1833_1850del (p.Asn612_Ser617del) c.2214_2231del (p.Asn739_Ser744del) c.1803_1820del (p.Asn602_Ser607del) n.108+379_108+396del c.2312-1480_2312-1463del (n.2312-1480_2312-1463del) c.1956_1973del (p.Asn653_Ser658del) n.2347_2364del n.2671_2688del n.2314_2331del | ClinVar dbSNP |
| 19 | g.11128036_11128041delinsTGAGAA | CA2322779531 | LDLR | c.2598_2603delinsTGAGAA (p.Asn866=) c.*409_*414delinsTGAGAA (n.*409_*414delinsTGAGAA) c.2220_2225delinsTGAGAA (p.Asn740=) c.2340_2345delinsTGAGAA (p.Asn780=) c.2594_2599delinsTGAGAA c.1836_1841delinsTGAGAA (p.Asn612=) c.2217_2222delinsTGAGAA (p.Asn739=) c.1806_1811delinsTGAGAA (p.Asn602=) n.108+382_108+387delinsTGAGAA c.2312-1477_2312-1472delinsTGAGAA (n.2312-1477_2312-1472delinsTGAGAA) c.1959_1964delinsTGAGAA (p.Asn653=) n.2350_2355delinsTGAGAA n.2674_2679delinsTGAGAA n.2317_2322delinsTGAGAA | |
| 19 | g.11128037_11128040delinsGAGA | CA2322779533 | LDLR | c.2599_2602delinsGAGA (p.Glu867=) c.*410_*413delinsGAGA (n.*410_*413delinsGAGA) c.2221_2224delinsGAGA (p.Glu741=) c.2341_2344delinsGAGA (p.Glu781=) c.2595_2598delinsGAGA c.1837_1840delinsGAGA (p.Glu613=) c.2218_2221delinsGAGA (p.Glu740=) c.1807_1810delinsGAGA (p.Glu603=) n.108+383_108+386delinsGAGA c.2312-1476_2312-1473delinsGAGA (n.2312-1476_2312-1473delinsGAGA) c.1960_1963delinsGAGA (p.Glu654=) n.2351_2354delinsGAGA n.2675_2678delinsGAGA n.2318_2321delinsGAGA | |
| 19 | g.11128039_11128043del | CA10585829 | LDLR | c.2601_2605del (p.Lys868AlafsTer3) c.*412_*416del (n.*412_*416del) c.2223_2227del (p.Lys742AlafsTer3) c.2343_2347del (p.Lys782AlafsTer3) c.2597_2601del c.1839_1843del (p.Lys614AlafsTer3) c.2220_2224del (p.Lys741AlafsTer3) c.1809_1813del (p.Lys604AlafsTer3) n.108+385_108+389del c.2312-1474_2312-1470del (n.2312-1474_2312-1470del) c.1962_1966del (p.Lys655AlafsTer3) n.2353_2357del n.2677_2681del n.2320_2324del | ClinVar dbSNP |
| 19 | g.11128043_11128045dup | CA2582476258 | LDLR | c.2605_2607dup (p.Lys869_Pro870insLys) c.*416_*418dup (n.*416_*418dup) c.2227_2229dup (p.Lys743_Pro744insLys) c.2347_2349dup (p.Lys783_Pro784insLys) c.2601_2603dup c.1843_1845dup (p.Lys615_Pro616insLys) c.2224_2226dup (p.Lys742_Pro743insLys) c.1813_1815dup (p.Lys605_Pro606insLys) n.108+389_108+391dup c.2312-1470_2312-1468dup (n.2312-1470_2312-1468dup) c.1966_1968dup (p.Lys656_Pro657insLys) n.2357_2359dup n.2681_2683dup n.2324_2326dup | gnomAD v4 |
| 19 | g.11128043_11128045del | CA039881 | LDLR | c.2605_2607del (p.Lys869del) c.*416_*418del (n.*416_*418del) c.2227_2229del (p.Lys743del) c.2347_2349del (p.Lys783del) c.2601_2603del c.1843_1845del (p.Lys615del) c.2224_2226del (p.Lys742del) c.1813_1815del (p.Lys605del) n.108+389_108+391del c.2312-1470_2312-1468del (n.2312-1470_2312-1468del) c.1966_1968del (p.Lys656del) n.2357_2359del n.2681_2683del n.2324_2326del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11128040A= | CA2322779535 | LDLR | c.2602A= (p.Lys868=) c.*413A= (n.*413A=) c.2224A= (p.Lys742=) c.2344A= (p.Lys782=) c.2598A= c.1840A= (p.Lys614=) c.2221A= (p.Lys741=) c.1810A= (p.Lys604=) n.108+386A= c.2312-1473A= (n.2312-1473A=) c.1963A= (p.Lys655=) n.2354A= n.2678A= n.2321A= | |
| 19 | g.11128040A>C | CA404096752 | LDLR | c.2602A>C (p.Lys868Gln) c.*413A>C (n.*413A>C) c.2224A>C (p.Lys742Gln) c.2344A>C (p.Lys782Gln) c.2598A>C c.1840A>C (p.Lys614Gln) c.2221A>C (p.Lys741Gln) c.1810A>C (p.Lys604Gln) n.108+386A>C c.2312-1473A>C (n.2312-1473A>C) c.1963A>C (p.Lys655Gln) n.2354A>C n.2678A>C n.2321A>C | gnomAD v4 |
| 19 | g.11128040A>G | CA404096754 | LDLR | c.2602A>G (p.Lys868Glu) c.*413A>G (n.*413A>G) c.2224A>G (p.Lys742Glu) c.2344A>G (p.Lys782Glu) c.2598A>G c.1840A>G (p.Lys614Glu) c.2221A>G (p.Lys741Glu) c.1810A>G (p.Lys604Glu) n.108+386A>G c.2312-1473A>G (n.2312-1473A>G) c.1963A>G (p.Lys655Glu) n.2354A>G n.2678A>G n.2321A>G | |
| 19 | g.11128040A>T | CA10576334 | LDLR | c.2602A>T (p.Lys868Ter) c.*413A>T (n.*413A>T) c.2224A>T (p.Lys742Ter) c.2344A>T (p.Lys782Ter) c.2598A>T c.1840A>T (p.Lys614Ter) c.2221A>T (p.Lys741Ter) c.1810A>T (p.Lys604Ter) n.108+386A>T c.2312-1473A>T (n.2312-1473A>T) c.1963A>T (p.Lys655Ter) n.2354A>T n.2678A>T n.2321A>T | ClinVar dbSNP |
| 19 | g.11128041A>C | CA404096758 | LDLR | c.2603A>C (p.Lys868Thr) c.*414A>C (n.*414A>C) c.2225A>C (p.Lys742Thr) c.2345A>C (p.Lys782Thr) c.2599A>C c.1841A>C (p.Lys614Thr) c.2222A>C (p.Lys741Thr) c.1811A>C (p.Lys604Thr) n.108+387A>C c.2312-1472A>C (n.2312-1472A>C) c.1964A>C (p.Lys655Thr) n.2355A>C n.2679A>C n.2322A>C | |
| 19 | g.11128041A>G | CA404096759 | LDLR | c.2603A>G (p.Lys868Arg) c.*414A>G (n.*414A>G) c.2225A>G (p.Lys742Arg) c.2345A>G (p.Lys782Arg) c.2599A>G c.1841A>G (p.Lys614Arg) c.2222A>G (p.Lys741Arg) c.1811A>G (p.Lys604Arg) n.108+387A>G c.2312-1472A>G (n.2312-1472A>G) c.1964A>G (p.Lys655Arg) n.2355A>G n.2679A>G n.2322A>G | |
| 19 | g.11128041A>T | CA404096761 | LDLR | c.2603A>T (p.Lys868Met) c.*414A>T (n.*414A>T) c.2225A>T (p.Lys742Met) c.2345A>T (p.Lys782Met) c.2599A>T c.1841A>T (p.Lys614Met) c.2222A>T (p.Lys741Met) c.1811A>T (p.Lys604Met) n.108+387A>T c.2312-1472A>T (n.2312-1472A>T) c.1964A>T (p.Lys655Met) n.2355A>T n.2679A>T n.2322A>T | |
| 19 | g.11128042G>A | CA505487490 | LDLR | c.2604G>A (p.Lys868=) c.*415G>A (n.*415G>A) c.2226G>A (p.Lys742=) c.2346G>A (p.Lys782=) c.2600G>A c.1842G>A (p.Lys614=) c.2223G>A (p.Lys741=) c.1812G>A (p.Lys604=) n.108+388G>A c.2312-1471G>A (n.2312-1471G>A) c.1965G>A (p.Lys655=) n.2356G>A n.2680G>A n.2323G>A | ClinVar dbSNP |
| 19 | g.11128042G>C | CA16602351 | LDLR | c.2604G>C (p.Lys868Asn) c.*415G>C (n.*415G>C) c.2226G>C (p.Lys742Asn) c.2346G>C (p.Lys782Asn) c.2600G>C c.1842G>C (p.Lys614Asn) c.2223G>C (p.Lys741Asn) c.1812G>C (p.Lys604Asn) n.108+388G>C c.2312-1471G>C (n.2312-1471G>C) c.1965G>C (p.Lys655Asn) n.2356G>C n.2680G>C n.2323G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11128042G= | CA2322779536 | LDLR | c.2604G= (p.Lys868=) c.*415G= (n.*415G=) c.2226G= (p.Lys742=) c.2346G= (p.Lys782=) c.2600G= c.1842G= (p.Lys614=) c.2223G= (p.Lys741=) c.1812G= (p.Lys604=) n.108+388G= c.2312-1471G= (n.2312-1471G=) c.1965G= (p.Lys655=) n.2356G= n.2680G= n.2323G= | |
| 19 | g.11128042G>T | CA404096764 | LDLR | c.2604G>T (p.Lys868Asn) c.*415G>T (n.*415G>T) c.2226G>T (p.Lys742Asn) c.2346G>T (p.Lys782Asn) c.2600G>T c.1842G>T (p.Lys614Asn) c.2223G>T (p.Lys741Asn) c.1812G>T (p.Lys604Asn) n.108+388G>T c.2312-1471G>T (n.2312-1471G>T) c.1965G>T (p.Lys655Asn) n.2356G>T n.2680G>T n.2323G>T | |
| 19 | g.11128043A= | CA2322779537 | LDLR | c.2605A= (p.Lys869=) c.*416A= (n.*416A=) c.2227A= (p.Lys743=) c.2347A= (p.Lys783=) c.2601A= c.1843A= (p.Lys615=) c.2224A= (p.Lys742=) c.1813A= (p.Lys605=) n.108+389A= c.2312-1470A= (n.2312-1470A=) c.1966A= (p.Lys656=) n.2357A= n.2681A= n.2324A= | |
| 19 | g.11128043A>C | CA039915 | LDLR | c.2605A>C (p.Lys869Gln) c.*416A>C (n.*416A>C) c.2227A>C (p.Lys743Gln) c.2347A>C (p.Lys783Gln) c.2601A>C c.1843A>C (p.Lys615Gln) c.2224A>C (p.Lys742Gln) c.1813A>C (p.Lys605Gln) n.108+389A>C c.2312-1470A>C (n.2312-1470A>C) c.1966A>C (p.Lys656Gln) n.2357A>C n.2681A>C n.2324A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11128043A>G | CA404096767 | LDLR | c.2605A>G (p.Lys869Glu) c.*416A>G (n.*416A>G) c.2227A>G (p.Lys743Glu) c.2347A>G (p.Lys783Glu) c.2601A>G c.1843A>G (p.Lys615Glu) c.2224A>G (p.Lys742Glu) c.1813A>G (p.Lys605Glu) n.108+389A>G c.2312-1470A>G (n.2312-1470A>G) c.1966A>G (p.Lys656Glu) n.2357A>G n.2681A>G n.2324A>G | |
| 19 | g.11128043A>T | CA404096769 | LDLR | c.2605A>T (p.Lys869Ter) c.*416A>T (n.*416A>T) c.2227A>T (p.Lys743Ter) c.2347A>T (p.Lys783Ter) c.2601A>T c.1843A>T (p.Lys615Ter) c.2224A>T (p.Lys742Ter) c.1813A>T (p.Lys605Ter) n.108+389A>T c.2312-1470A>T (n.2312-1470A>T) c.1966A>T (p.Lys656Ter) n.2357A>T n.2681A>T n.2324A>T | |
| 19 | g.11128044A>C | CA404096773 | LDLR | c.2606A>C (p.Lys869Thr) c.*417A>C (n.*417A>C) c.2228A>C (p.Lys743Thr) c.2348A>C (p.Lys783Thr) c.2602A>C c.1844A>C (p.Lys615Thr) c.2225A>C (p.Lys742Thr) c.1814A>C (p.Lys605Thr) n.108+390A>C c.2312-1469A>C (n.2312-1469A>C) c.1967A>C (p.Lys656Thr) n.2358A>C n.2682A>C n.2325A>C | |
| 19 | g.11128044A>G | CA404096774 | LDLR | c.2606A>G (p.Lys869Arg) c.*417A>G (n.*417A>G) c.2228A>G (p.Lys743Arg) c.2348A>G (p.Lys783Arg) c.2602A>G c.1844A>G (p.Lys615Arg) c.2225A>G (p.Lys742Arg) c.1814A>G (p.Lys605Arg) n.108+390A>G c.2312-1469A>G (n.2312-1469A>G) c.1967A>G (p.Lys656Arg) n.2358A>G n.2682A>G n.2325A>G | |
| 19 | g.11128044A>T | CA404096771 | LDLR | c.2606A>T (p.Lys869Met) c.*417A>T (n.*417A>T) c.2228A>T (p.Lys743Met) c.2348A>T (p.Lys783Met) c.2602A>T c.1844A>T (p.Lys615Met) c.2225A>T (p.Lys742Met) c.1814A>T (p.Lys605Met) n.108+390A>T c.2312-1469A>T (n.2312-1469A>T) c.1967A>T (p.Lys656Met) n.2358A>T n.2682A>T n.2325A>T | |
| 19 | g.11128045G>A | CA505487493 | LDLR | c.2607G>A (p.Lys869=) c.*418G>A (n.*418G>A) c.2229G>A (p.Lys743=) c.2349G>A (p.Lys783=) c.2603G>A c.1845G>A (p.Lys615=) c.2226G>A (p.Lys742=) c.1815G>A (p.Lys605=) n.108+391G>A c.2312-1468G>A (n.2312-1468G>A) c.1968G>A (p.Lys656=) n.2359G>A n.2683G>A n.2326G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11128045G>C | CA404096777 | LDLR | c.2607G>C (p.Lys869Asn) c.*418G>C (n.*418G>C) c.2229G>C (p.Lys743Asn) c.2349G>C (p.Lys783Asn) c.2603G>C c.1845G>C (p.Lys615Asn) c.2226G>C (p.Lys742Asn) c.1815G>C (p.Lys605Asn) n.108+391G>C c.2312-1468G>C (n.2312-1468G>C) c.1968G>C (p.Lys656Asn) n.2359G>C n.2683G>C n.2326G>C | |
| 19 | g.11128045G>T | CA404096778 | LDLR | c.2607G>T (p.Lys869Asn) c.*418G>T (n.*418G>T) c.2229G>T (p.Lys743Asn) c.2349G>T (p.Lys783Asn) c.2603G>T c.1845G>T (p.Lys615Asn) c.2226G>T (p.Lys742Asn) c.1815G>T (p.Lys605Asn) n.108+391G>T c.2312-1468G>T (n.2312-1468G>T) c.1968G>T (p.Lys656Asn) n.2359G>T n.2683G>T n.2326G>T | |
| 19 | g.11128046C>A | CA404096779 | LDLR | c.2608C>A (p.Pro870Thr) c.*419C>A (n.*419C>A) c.2230C>A (p.Pro744Thr) c.2350C>A (p.Pro784Thr) c.2604C>A c.1846C>A (p.Pro616Thr) c.2227C>A (p.Pro743Thr) c.1816C>A (p.Pro606Thr) n.108+392C>A c.2312-1467C>A (n.2312-1467C>A) c.1969C>A (p.Pro657Thr) n.2360C>A n.2684C>A n.2327C>A | |
| 19 | g.11128046C= | CA2322779538 | LDLR | c.2608C= (p.Pro870=) c.*419C= (n.*419C=) c.2230C= (p.Pro744=) c.2350C= (p.Pro784=) c.2604C= c.1846C= (p.Pro616=) c.2227C= (p.Pro743=) c.1816C= (p.Pro606=) n.108+392C= c.2312-1467C= (n.2312-1467C=) c.1969C= (p.Pro657=) n.2360C= n.2684C= n.2327C= | |
| 19 | g.11128046C>G | CA404096780 | LDLR | c.2608C>G (p.Pro870Ala) c.*419C>G (n.*419C>G) c.2230C>G (p.Pro744Ala) c.2350C>G (p.Pro784Ala) c.2604C>G c.1846C>G (p.Pro616Ala) c.2227C>G (p.Pro743Ala) c.1816C>G (p.Pro606Ala) n.108+392C>G c.2312-1467C>G (n.2312-1467C>G) c.1969C>G (p.Pro657Ala) n.2360C>G n.2684C>G n.2327C>G | |
| 19 | g.11128046C>T | CA404096782 | LDLR | c.2608C>T (p.Pro870Ser) c.*419C>T (n.*419C>T) c.2230C>T (p.Pro744Ser) c.2350C>T (p.Pro784Ser) c.2604C>T c.1846C>T (p.Pro616Ser) c.2227C>T (p.Pro743Ser) c.1816C>T (p.Pro606Ser) n.108+392C>T c.2312-1467C>T (n.2312-1467C>T) c.1969C>T (p.Pro657Ser) n.2360C>T n.2684C>T n.2327C>T | ClinVar dbSNP |
| 19 | g.11128047C>A | CA404096788 | LDLR | c.2609C>A (p.Pro870His) c.*420C>A (n.*420C>A) c.2231C>A (p.Pro744His) c.2351C>A (p.Pro784His) c.2605C>A c.1847C>A (p.Pro616His) c.2228C>A (p.Pro743His) c.1817C>A (p.Pro606His) n.108+393C>A c.2312-1466C>A (n.2312-1466C>A) c.1970C>A (p.Pro657His) n.2361C>A n.2685C>A n.2328C>A | |
| 19 | g.11128047C= | CA2322779539 | LDLR | c.2609C= (p.Pro870=) c.*420C= (n.*420C=) c.2231C= (p.Pro744=) c.2351C= (p.Pro784=) c.2605C= c.1847C= (p.Pro616=) c.2228C= (p.Pro743=) c.1817C= (p.Pro606=) n.108+393C= c.2312-1466C= (n.2312-1466C=) c.1970C= (p.Pro657=) n.2361C= n.2685C= n.2328C= | |
| 19 | g.11128047C>G | CA404096786 | LDLR | c.2609C>G (p.Pro870Arg) c.*420C>G (n.*420C>G) c.2231C>G (p.Pro744Arg) c.2351C>G (p.Pro784Arg) c.2605C>G c.1847C>G (p.Pro616Arg) c.2228C>G (p.Pro743Arg) c.1817C>G (p.Pro606Arg) n.108+393C>G c.2312-1466C>G (n.2312-1466C>G) c.1970C>G (p.Pro657Arg) n.2361C>G n.2685C>G n.2328C>G | |
| 19 | g.11128047C>T | CA404096784 | LDLR | c.2609C>T (p.Pro870Leu) c.*420C>T (n.*420C>T) c.2231C>T (p.Pro744Leu) c.2351C>T (p.Pro784Leu) c.2605C>T c.1847C>T (p.Pro616Leu) c.2228C>T (p.Pro743Leu) c.1817C>T (p.Pro606Leu) n.108+393C>T c.2312-1466C>T (n.2312-1466C>T) c.1970C>T (p.Pro657Leu) n.2361C>T n.2685C>T n.2328C>T | dbSNP |
| 19 | g.11128048C>A | CA505487494 | LDLR | c.2610C>A (p.Pro870=) c.*421C>A (n.*421C>A) c.2232C>A (p.Pro744=) c.2352C>A (p.Pro784=) c.2606C>A c.1848C>A (p.Pro616=) c.2229C>A (p.Pro743=) c.1818C>A (p.Pro606=) n.108+394C>A c.2312-1465C>A (n.2312-1465C>A) c.1971C>A (p.Pro657=) n.2362C>A n.2686C>A n.2329C>A | |
| 19 | g.11128048C>G | CA505487495 | LDLR | c.2610C>G (p.Pro870=) c.*421C>G (n.*421C>G) c.2232C>G (p.Pro744=) c.2352C>G (p.Pro784=) c.2606C>G c.1848C>G (p.Pro616=) c.2229C>G (p.Pro743=) c.1818C>G (p.Pro606=) n.108+394C>G c.2312-1465C>G (n.2312-1465C>G) c.1971C>G (p.Pro657=) n.2362C>G n.2686C>G n.2329C>G | |
| 19 | g.11128048C>T | CA505487496 | LDLR | c.2610C>T (p.Pro870=) c.*421C>T (n.*421C>T) c.2232C>T (p.Pro744=) c.2352C>T (p.Pro784=) c.2606C>T c.1848C>T (p.Pro616=) c.2229C>T (p.Pro743=) c.1818C>T (p.Pro606=) n.108+394C>T c.2312-1465C>T (n.2312-1465C>T) c.1971C>T (p.Pro657=) n.2362C>T n.2686C>T n.2329C>T | gnomAD v4 |
| 19 | g.11128049A>C | CA404096790 | LDLR | c.2611A>C (p.Ser871Arg) c.*422A>C (n.*422A>C) c.2233A>C (p.Ser745Arg) c.2353A>C (p.Ser785Arg) c.2607A>C c.1849A>C (p.Ser617Arg) c.2230A>C (p.Ser744Arg) c.1819A>C (p.Ser607Arg) n.108+395A>C c.2312-1464A>C (n.2312-1464A>C) c.1972A>C (p.Ser658Arg) n.2363A>C n.2687A>C n.2330A>C | |
| 19 | g.11128049A>G | CA404096792 | LDLR | c.2611A>G (p.Ser871Gly) c.*422A>G (n.*422A>G) c.2233A>G (p.Ser745Gly) c.2353A>G (p.Ser785Gly) c.2607A>G c.1849A>G (p.Ser617Gly) c.2230A>G (p.Ser744Gly) c.1819A>G (p.Ser607Gly) n.108+395A>G c.2312-1464A>G (n.2312-1464A>G) c.1972A>G (p.Ser658Gly) n.2363A>G n.2687A>G n.2330A>G | COSMIC |
| 19 | g.11128049A>T | CA404096794 | LDLR | c.2611A>T (p.Ser871Cys) c.*422A>T (n.*422A>T) c.2233A>T (p.Ser745Cys) c.2353A>T (p.Ser785Cys) c.2607A>T c.1849A>T (p.Ser617Cys) c.2230A>T (p.Ser744Cys) c.1819A>T (p.Ser607Cys) n.108+395A>T c.2312-1464A>T (n.2312-1464A>T) c.1972A>T (p.Ser658Cys) n.2363A>T n.2687A>T n.2330A>T | gnomAD v4 |