PMID: 20809525

Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Human mutation
M Marduel, A Carrié, A Sassolas, M Devillers, V Carreau, M Di Filippo, D Erlich, M Abifadel, A Marques-Pinheiro, A Munnich, C Junien, , C Boileau, M Varret, JP Rabès
2010-11

190 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11216121-G-A LDLR c.539G>A p.Trp180* Nonsense 4/18 -
19-11226816-G-A LDLR c.1633G>A p.Gly545Arg Missense 11/18 -
19-11230856-A-AA LDLR c.1934_1934dup p.Asn645Lysfs*24 Frameshift 13/18 -
19-11215998-A-G LDLR c.416A>G p.Asp139Gly Missense 4/18 -
19-11218164-G-C LDLR c.914G>C p.Trp305Ser Missense 6/18 -
19-11215998-A-T LDLR c.416A>T p.Asp139Val Missense 4/18 -
19-11240281-T-C LDLR c.2482T>C p.Tyr828His Missense 17/18 -
19-11215939-GG-G LDLR c.357delG p.Lys120Serfs*86 Frameshift 4/18 -
19-11227642-C-T LDLR c.1813C>T p.Leu605Leu Synonymous 12/18 -
19-11218119-T-G LDLR c.869T>G p.Ile290Ser Missense 6/18 -
1-241675287-C-A FH c.535G>T p.Asp179Tyr Missense 4/10 -
19-11224055-G-C LDLR c.1288G>C p.Val430Leu Missense 9/18 -
8-133900371-AA-A TG c.2319delA p.Gln773Hisfs*25 Frameshift 10/48 -
8-133899113-CAA-C TG c.1496_1497delAA p.Gln499Leufs*37 Frameshift 9/48 -
19-11215944-G-A LDLR c.362G>A p.Cys121Tyr Missense 4/18 -
19-11230775-T-G LDLR c.1853T>G p.Val618Gly Missense 13/18 -
19-11216032-C-CC LDLR c.450_450dup p.Ala151Argfs*29 Frameshift 4/18 -
19-11240351-G-C LDLR c.2547+5G>C - IntronicSNV - 17/17
19-11226768-A-T LDLR c.1587-2A>T - IntronicSNV - 10/17
19-11227535-A-T LDLR c.1706A>T p.Asp569Val Missense 12/18 -
8-133899367-TGCTAT-T TG c.1750_1754delGCTAT p.Ala584Leufs*12 Frameshift 9/48 -
19-11221442-G-T LDLR c.1055G>T p.Cys352Phe Missense 7/18 -
19-11224207-T-C LDLR c.1359-4T>C - IntronicSNV - 9/17
19-11230782-G-A LDLR c.1860G>A p.Trp620* Nonsense 13/18 -
8-133895212-GG-G TG c.1043delG p.Gly348Glufs*54 Frameshift 8/48 -
19-11213393-T-G LDLR c.244T>G p.Cys82Gly Missense 3/18 -
8-133898720-G-C TG c.1103G>C p.Arg368Thr Missense 9/48 -
19-11221328-G-C LDLR c.941G>C p.Gly314Ala Missense 7/18 -
19-11213414-T-G LDLR c.265T>G p.Cys89Gly Missense 3/18 -
19-11226868-G-A LDLR c.1685G>A p.Trp562* Nonsense 11/18 -
19-11221471-C-A LDLR c.1060+24C>A - IntronicSNV - 7/17
19-11238775-G-A LDLR c.2389+14G>A - IntronicSNV - 16/17
19-11223953-G-A LDLR c.1187-1G>A - IntronicSNV - 8/17
19-11221352-A-T LDLR c.965A>T p.Asn322Ile Missense 7/18 -
19-11221395-AC-A LDLR c.1008delC p.Tyr336*fs*1 Frameshift 7/18 -
1-241665785-G-A FH c.1194C>T p.Gly398Gly Synonymous 8/10 -
8-133894152-TT-T TG c.683delT p.Phe228Serfs*174 Frameshift 6/48 -
19-11216009-T-G LDLR c.427T>G p.Cys143Gly Missense 4/18 -
8-133899737-A-T TG c.2120A>T p.Asp707Val Missense 9/48 -
19-11227673-A-T LDLR c.1844A>T p.Glu615Val Missense 12/18 -
8-133895177-GC-G TG c.1008delC p.Trp337Glyfs*65 Frameshift 8/48 -
19-11226780-T-C LDLR c.1597T>C p.Trp533Arg Missense 11/18 -
19-11224398-G-A LDLR c.1546G>A p.Gly516Ser Missense 10/18 -
8-133900468-GA-G TG c.2416delA p.Ile806Serfs*2 Frameshift 10/48 -
19-11216046-G-A LDLR c.464G>A p.Cys155Tyr Missense 4/18 -
19-11224371-A-G LDLR c.1519A>G p.Lys507Glu Missense 10/18 -
19-11216262-A-T LDLR c.680A>T p.Asp227Val Missense 4/18 -
19-11216223-G-C LDLR c.641G>C p.Trp214Ser Missense 4/18 -
19-11217339-A-T LDLR c.793A>T p.Ser265Cys Missense 5/18 -
19-11226815-AA-A LDLR c.1632delA p.Gly546Alafs*2 Frameshift 11/18 -
8-133899344-A-C TG c.1727A>C p.Glu576Ala Missense 9/48 -
19-11224312-A-G LDLR c.1460A>G p.Asn487Ser Missense 10/18 -
19-11231055-G-A LDLR c.1997G>A p.Trp666* Nonsense 14/18 -
8-133899261-T-G TG c.1644T>G p.Thr548Thr Synonymous 9/48 -
8-133899227-GC-G TG c.1610delC p.Ala537Valfs*8 Frameshift 9/48 -
8-133899711-C-G TG c.2094C>G p.Cys698Trp Missense 9/48 -
19-11230867-C-T LDLR c.1945C>T p.Pro649Ser Missense 13/18 -
19-11213393-CT-C LDLR c.244delT p.Cys82Alafs*124 Frameshift 3/18 -
8-133895230-A-C TG c.1061A>C p.Glu354Ala Missense 8/48 -
19-11216251-G-C LDLR c.669G>C p.Lys223Asn Missense 4/18 -
19-11238690-GG-G LDLR c.2318delG p.Gly773Alafs*15 Frameshift 16/18 -
19-11226812-AGAAAGGGGGCCTGAATGGTGTGGA-A LDLR c.1629_1652del24 p.Lys543_asp551delinsAsn MultiAAMissense 11/18 -
8-133899354-TC-T TG c.1737delC p.Phe580Serfs*16 Frameshift 9/48 -
8-133899446-CAGA-C TG c.1829_1831delAGA p.Gln610_thr611delinsPro MultiAAMissense 9/48 -
19-11216117-G-T LDLR c.535G>T p.Glu179* Nonsense 4/18 -
8-133899163-G-A TG c.1546G>A p.Glu516Lys Missense 9/48 -
19-11224110-CA-C LDLR c.1343delA p.Gln448Argfs*3 Frameshift 9/18 -
19-11210931-T-G LDLR c.100T>G p.Cys34Gly Missense 2/18 -
19-11227556-A-C LDLR c.1727A>C p.Tyr576Ser Missense 12/18 -
19-11234021-G-T LDLR c.2311+1G>T - IntronicSNV - 15/17
19-11222190-A-C LDLR c.1061A>C p.Asp354Ala Missense 8/18 -
19-11210933-C-A LDLR c.102C>A p.Cys34* Nonsense 2/18 -
8-133899503-GT-G TG c.1886delT p.Val629Alafs*11 Frameshift 9/48 -
8-133898961-TT-T TG c.1344delT p.Ser450Profs*29 Frameshift 9/48 -
8-133885437-TG-T TG c.609delG p.Met203Ilefs*17 Frameshift 5/48 -
19-11224276-C-T LDLR c.1424C>T p.Ala475Val Missense 10/18 -
8-133899551-A-AA TG c.1934_1934dup p.Leu646Alafs*18 Frameshift 9/48 -
19-11216263-C-CTGAG LDLR c.681_682insTGAG p.Glu228*fs*1 Nonsense 4/18 -
19-11222282-C-G LDLR c.1153C>G p.Leu385Val Missense 8/18 -
19-11227533-A-T LDLR c.1706-2A>T - IntronicSNV - 11/17
19-11223990-A-C LDLR c.1223A>C p.Glu408Ala Missense 9/18 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11216264-CG-C LDLR c.682delG p.Glu228Argfs*37 Frameshift 4/18 -
8-133894833-AT-A TG c.865delT p.Ser289Glnfs*113 Frameshift 7/48 -
1-241680505-CC-C FH c.245delG p.Gly82Glufs*3 Frameshift 2/10 -
1-241682921-G-T FH c.102C>A p.Pro34Pro Synonymous 1/10 -
8-133899322-G-T TG c.1705G>T p.Ala569Ser Missense 9/48 -
19-11223983-C-A LDLR c.1216C>A p.Arg406Arg Synonymous 9/18 -
19-11227547-GG-G LDLR c.1718delG p.Gly573Alafs*92 Frameshift 12/18 -
1-241676908-C-CAGTC FH c.374_375insCTGA p.Glu126*fs*1 Nonsense 3/10 -
19-11231198-G-C LDLR c.2140G>C p.Glu714Gln Missense 14/18 -
19-11226781-G-A LDLR c.1598G>A p.Trp533* Nonsense 11/18 -
19-11218125-T-TT LDLR c.875_875dup p.Asp293Glyfs*8 Frameshift 6/18 -
19-11223961-C-T LDLR c.1194C>T p.Ile398Ile Synonymous 9/18 -
8-133883634-GAGTGGCTACATTAACAGCACA-G TG c.316_336del21 p.Ser106_thr112del InFrameDeletion 4/48 -
8-133894117-ATGCATTTGT-A TG c.648_656delTGCATTTGT p.Asp216_val219delinsGlu MultiAAMissense 6/48 -
8-133899166-AGATTTGG-A TG c.1549_1555delGATTTGG p.Asp517Profs*8 Frameshift 9/48 -
19-11221338-AA-A LDLR c.951delA p.Glu317Aspfs*53 Frameshift 7/18 -
19-11216180-T-A LDLR c.598T>A p.Phe200Ile Missense 4/18 -
19-11224419-G-T LDLR c.1567G>T p.Val523Leu Missense 10/18 -
8-133899320-T-C TG c.1703T>C p.Leu568Pro Missense 9/48 -
19-11227559-TGGGTTGACT-T LDLR c.1730_1738delGGGTTGACT p.Trp577_asp579del InFrameDeletion 12/18 -
19-11215964-T-C LDLR c.382T>C p.Cys128Arg Missense 4/18 -
2-21252596-A-C APOB c.1532T>G p.Leu511Arg Missense 12/29 -
1-241676924-TT-T FH c.358delA p.Ile120*fs*1 Frameshift 3/10 -
19-11221316-G-A LDLR c.941-12G>A - IntronicSNV - 6/17
19-11215965-G-T LDLR c.383G>T p.Cys128Phe Missense 4/18 -
19-11230850-C-T LDLR c.1928C>T p.Ala643Val Missense 13/18 -
8-133898770-C-G TG c.1153C>G p.Gln385Glu Missense 9/48 -
19-11216248-GCAAGGACAAATCTGACGAGGAA-G LDLR c.666_687del22 p.Cys222*fs*1 Frameshift 4/18 -
19-11231088-TGCCAGTATCTGTG-T LDLR c.2030_2042del13 p.Cys677Serfs*28 Frameshift 14/18 -
19-11218191-G-C LDLR c.940+1G>C - IntronicSNV - 6/17
19-11218191-G-A LDLR c.940+1G>A - IntronicSNV - 6/17
8-133894151-T-TAAATCTGAC TG c.682_683insAAATCTGAC p.Phe228*fs*1 Nonsense 6/48 -
19-11233896-TAAAGGTCAGCT-T LDLR c.2187_2197del11 p.Lys730Hisfs*48 Frameshift 15/18 -
8-133895133-AAAT-A TG c.964_966delAAT p.Asn322delAsn InFrameDeletion 8/48 -
19-11222232-G-C LDLR c.1103G>C p.Cys368Ser Missense 8/18 -
19-11215956-A-ACTGA LDLR c.374_375insCTGA p.Gln125Hisfs*2 Frameshift 4/18 -
8-133885311-CAAGGAGC-C TG c.483_489delAAGGAGC p.Arg162Valfs*3 Frameshift 5/48 -
19-11210899-TG-AC LDLR c.68_69delTGinsAC p.Val23Asp Missense 2/18 -
19-11231190-G-C LDLR c.2132G>C p.Cys711Ser Missense 14/18 -
19-11230829-G-A LDLR c.1907G>A p.Gly636Asp Missense 13/18 -
19-11226793-GG-G LDLR c.1610delG p.Gly537Glufs*11 Frameshift 11/18 -
19-11213459-T-C LDLR c.310T>C p.Cys104Arg Missense 3/18 -
19-11216230-GTGATGGTGG-G LDLR c.648_656delTGATGGTGG p.Asp217_gly219del InFrameDeletion 4/18 -
19-11213340-T-C LDLR c.191T>C p.Leu64Ser Missense 3/18 -
19-11213440-C-G LDLR c.291C>G p.Asn97Lys Missense 3/18 -
19-11227565-A-G LDLR c.1736A>G p.Asp579Gly Missense 12/18 -
19-11218204-GC-G LDLR c.940+14delC - IntronicDeletion - 6/17
8-133899410-T-C TG c.1793T>C p.Val598Ala Missense 9/48 -
8-133894151-T-TGAGT TG c.682_683insGAGT p.Phe228*fs*1 Nonsense 6/48 -
8-133895121-AA-A TG c.952delA p.Ser318Alafs*84 Frameshift 8/48 -
8-133894720-A-AA TG c.752_752dup p.Leu252Valfs*5 Frameshift 7/48 -
19-11226789-T-G LDLR c.1606T>G p.Trp536Gly Missense 11/18 -
19-11216249-CAAGGACAAATCTGACGAGGAAAACTGC-C LDLR c.667_693del27 - SpliceDonorDeletion 4/18 -
19-11218115-AT-A LDLR c.865delT p.Cys289Alafs*81 Frameshift 6/18 -
8-133899246-CTATGAATAAGCCAACTGTGGGCAG-C TG c.1629_1652del24 p.Met544_ser551del InFrameDeletion 9/48 -
19-11227658-TCCT-T LDLR c.1829_1831delCCT p.Ser610delSer InFrameDeletion 12/18 -
19-11221406-GC-TG LDLR c.1019_1020delinsTG p.Cys340Leu Missense 7/18 -
19-11233939-CC-C LDLR c.2230delC p.Arg744Aspfs*21 Frameshift 15/18 -
19-11227566-AC-A LDLR c.1737delC p.Ser580Profs*85 Frameshift 12/18 -
19-11224429-C-G LDLR c.1577C>G p.Pro526Arg Missense 10/18 -
19-11216275-GCGGTATGGGCGGGGCCAGGGTG-G LDLR c.693_694+20del22 - SpliceDonorDeletion 4/18 4/17
19-11221394-A-G LDLR c.1007A>G p.Tyr336Cys Missense 7/18 -
8-133899349-CCTTCTCTTC-C TG c.1732_1740delCTTCTCTTC p.Leu579_leu581del InFrameDeletion 9/48 -
19-11213382-G-A LDLR c.233G>A p.Arg78His Missense 3/18 -
8-133883768-G-GG TG c.450_450dup p.Thr151Aspfs*15 Frameshift 4/48 -
19-11230808-TT-T LDLR c.1886delT p.Phe629Serfs*36 Frameshift 13/18 -
19-11224348-TCT-T LDLR c.1496_1497delCT p.Ser499Cysfs*36 Frameshift 10/18 -
8-133899335-GA-G TG c.1718delA p.Glu573Glyfs*23 Frameshift 9/48 -
8-133899249-TG-T TG c.1632delG p.Met544Ilefs*52 Frameshift 9/48 -
19-11224128-TGAGCGT-T LDLR c.1358+3_1358+8delGAGCGT - IntronicDeletion - 9/17
8-133900282-GG-G TG c.2230delG p.Ala744Profs*54 Frameshift 10/48 -
19-11226888-G-T LDLR c.1705G>T p.Asp569Tyr Missense 11/18 -
19-11230768-GA-AT LDLR c.1846_1847delGAinsAT p.Asp616Ile Missense 13/18 -
19-11226827-T-G LDLR c.1644T>G p.Asn548Lys Missense 11/18 -
2-21266747-C-A APOB c.71G>T p.Gly24Val Missense 1/29 -
8-133900239-CCTGTCAATTAC-C TG c.2187_2197del11 p.Cys730Valfs*2 Frameshift 10/48 -
19-11216083-C-G LDLR c.501C>G p.Cys167Trp Missense 4/18 -
19-11240245-A-T LDLR c.2446A>T p.Lys816* Nonsense 17/18 -
19-11216277-G-T LDLR c.694+1G>T - IntronicSNV - 4/17
19-11224339-G-T LDLR c.1487G>T p.Gly496Val Missense 10/18 -
19-11216275-C-G LDLR c.693C>G p.Cys231Trp Missense 4/18 -
19-11217298-G-GG LDLR c.752_752dup p.Ser252Glnfs*5 Frameshift 5/18 -
19-11230877-T-C LDLR c.1955T>C p.Met652Thr Missense 13/18 -
19-11227622-T-C LDLR c.1793T>C p.Ile598Thr Missense 12/18 -
19-11230778-T-C LDLR c.1856T>C p.Phe619Ser Missense 13/18 -
19-11213419-T-A LDLR c.270T>A p.Asp90Glu Missense 3/18 -
8-133894135-GTTCCTTCCAGAGGAGGTTCCCT-G TG c.666_687del22 p.Ser222Argfs*173 Frameshift 6/48 -
8-133894749-CA-C TG c.781delA p.Ile261Phefs*141 Frameshift 7/48 -
19-11240215-GG-G LDLR c.2416delG p.Val806Serfs*123 Frameshift 17/18 -
8-133899524-G-A TG c.1907G>A p.Cys636Tyr Missense 9/48 -
19-11216191-AC-A LDLR c.609delC p.Cys204Alafs*2 Frameshift 4/18 -
19-11227578-ACTCCA-A LDLR c.1749_1753delCTCCA p.Ser584Leufs*17 Frameshift 12/18 -
8-133900561-GT-G TG c.2509delT p.Ser837Hisfs*11 Frameshift 10/48 -
8-133899649-TGCTGGCTCCACCT-T TG c.2032_2044del13 p.Ala678Cysfs*39 Frameshift 9/48 -
19-11215898-CCCCAAGACGTGCTCCCAGGAC-C LDLR c.316_336del21 p.Pro106_asp112del InFrameDeletion 4/18 -
19-11213404-G-T LDLR c.255G>T p.Gln85His Missense 3/18 -
19-11222196-A-C LDLR c.1067A>C p.Asp356Ala Missense 8/18 -
19-11216193-G-A LDLR c.611G>A p.Cys204Tyr Missense 4/18 -
19-11221429-GG-G LDLR c.1042delG p.Ala348Profs*22 Frameshift 7/18 -
19-11224401-CTCCAAGC-C LDLR c.1549_1555delTCCAAGC p.Ser517Glnfs*29 Frameshift 10/18 -
19-11218137-G-A LDLR c.887G>A p.Cys296Tyr Missense 6/18 -
19-11226870-C-T LDLR c.1687C>T p.Pro563Ser Missense 11/18 -
19-11240308-CC-C LDLR c.2509delC p.His837Thrfs*92 Frameshift 17/18 -
19-11221473-T-G LDLR c.1060+26T>G - IntronicSNV - 7/17
19-11218192-T-A LDLR c.940+2T>A - IntronicSNV - 6/17
19-11210899-T-A LDLR c.68T>A p.Val23Glu Missense 2/18 -
8-133894843-C-CC TG c.875_875dup p.Gly293Trpfs*10 Frameshift 7/48 -
19-11216171-T-G LDLR c.589T>G p.Cys197Gly Missense 4/18 -