PMID: 24987033

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal of medical genetics
M Futema, V Plagnol, K Li, RA Whittall, HA Neil, M Seed, , S Bertolini, S Calandra, OS Descamps, CA Graham, RA Hegele, F Karpe, R Durst, E Leitersdorf, N Lench, DR Nair, H Soran, FM Van Bockxmeer, , SE Humphries
2014-08

92 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
14-73538356-T-C RBM25 c.7T>C p.Phe3Leu Missense 2/19 -
19-11221435-C-T LDLR c.1048C>T p.Arg350* Nonsense 7/18 -
14-93650113-A-T MOAP1 c.475T>A p.Cys159Ser Missense 3/3 -
14-64065840-A-G WDR89 c.821T>C p.Leu274Ser Missense 3/3 -
19-11216084-G-C LDLR c.502G>C p.Asp168His Missense 4/18 -
11-125764189-A-G PUS3 c.945-8T>C - IntronicSNV - 3/3
19-48542532-G-T CABP5 c.281C>A p.Thr94Asn Missense 4/6 -
1-15812478-G-A CELA2B c.576G>A p.Trp192* Nonsense 6/8 -
12-10603578-G-A KLRC1 c.178C>T p.His60Tyr Missense 2/7 -
19-48543899-C-T CABP5 c.201G>A p.Met67Ile Missense 3/6 -
14-93650406-T-C MOAP1 c.182A>G p.Asn61Ser Missense 3/3 -
1-15812477-G-A CELA2B c.575G>A p.Trp192* Nonsense 6/8 -
7-66104107-C-T KCTD7 c.758C>T p.Ser253Leu Missense 4/4 -
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
1-241672043-C-T FH c.598G>A p.Ala200Thr Missense 5/10 -
8-101719198-C-T PABPC1 c.1364G>A p.Arg455His Missense 10/15 -
2-21255379-C-T APOB c.1199G>A p.Arg400His Missense 10/29 -
2-21245819-C-A APOB c.2700G>T p.Gln900His Missense 18/29 -
2-21245819-C-G APOB c.2700G>C p.Gln900His Missense 18/29 -
7-66094142-G-A KCTD7 c.91G>A p.Ala31Thr Missense 1/4 -
11-126243952-G-A ST3GAL4 c.-61+17755G>A - intron_variant - 1/10
14-93649933-G-C MOAP1 c.655C>G p.Arg219Gly Missense 3/3 -
19-11231199-G-A LDLR c.2140+1G>A - IntronicSNV - 14/17
19-48543931-T-A CABP5 c.169A>T p.Met57Leu Missense 3/6 -
14-73580994-G-A RBM25 c.2392G>A p.Val798Ile Missense 18/19 -
2-118854221-T-C INSIG2 c.89T>C p.Ile30Thr Missense 2/6 -
7-66103855-G-A KCTD7 c.506G>A p.Arg169Gln Missense 4/4 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
14-73538358-T-A RBM25 c.9T>A p.Phe3Leu Missense 2/19 -
10-90966482-C-T CH25H c.568G>A p.Val190Ile Missense 1/1 -
11-126242147-T-A ST3GAL4 c.-61+15950T>A - intron_variant - 1/10
11-126242147-T-G ST3GAL4 c.-61+15950T>G - intron_variant - 1/10
5-134223789-C-G TXNDC15 c.508C>G p.Leu170Val Missense 2/5 -
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
14-73572685-A-G RBM25 c.1273A>G p.Arg425Gly Missense 11/19 -
8-101733682-T-A PABPC1 c.130A>T p.Arg44Trp Missense 1/15 -
4-72634043-G-A GC c.236C>T p.Ala79Val Missense 3/13 -
1-25890173-CT-C LDLRAP1 c.638delT p.Leu213Argfs*3 Frameshift 7/9 -
14-93649963-T-G MOAP1 c.625A>C p.Ser209Arg Missense 3/3 -
14-73538358-T-G RBM25 c.9T>G p.Phe3Leu Missense 2/19 -
2-21233102-ATCA-A APOB c.6639_6641delTGA p.Asp2213delAsp InFrameDeletion 26/29 -
14-73554780-A-T RBM25 c.454A>T p.Ile152Phe Missense 6/19 -
14-93650324-G-C MOAP1 c.264C>G p.Ile88Met Missense 3/3 -
19-48543931-T-G CABP5 c.169A>C p.Met57Leu Missense 3/6 -
10-90966308-A-C CH25H c.742T>G p.Cys248Gly Missense 1/1 -
14-73538399-T-C RBM25 c.50T>C p.Leu17Pro Missense 2/19 -
19-11231112-C-T LDLR c.2054C>T p.Pro685Leu Missense 14/18 -
1-16344253-C-T HSPB7 c.199+7G>A - IntronicSNV - 1/2
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11227652-C-T LDLR c.1823C>T p.Pro608Leu Missense 12/18 -
8-101721447-T-G PABPC1 c.1250A>C p.Gln417Pro Missense 9/15 -
14-93649881-G-A MOAP1 c.707C>T p.Ala236Val Missense 3/3 -
1-15813879-T-C CELA2B c.739T>C p.Tyr247His Missense 7/8 -
19-11240196-TCGTCTTCCT-T LDLR c.2397_2405delCGTCTTCCT p.Val800_leu802del InFrameDeletion 17/18 -
19-11216264-G-T LDLR c.682G>T p.Glu228* Nonsense 4/18 -
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10
2-118854368-C-T INSIG2 c.236C>T p.Thr79Met Missense 2/6 -
19-11216014-G-GA LDLR c.432_433insA p.Val145Serfs*35 Frameshift 4/18 -
10-90966806-G-A CH25H c.244C>T p.Gln82* Nonsense 1/1 -
19-11240278-G-A LDLR c.2479G>A p.Val827Ile Missense 17/18 -
14-64066108-T-C WDR89 c.553A>G p.Met185Val Missense 3/3 -
2-21265322-G-A APOB c.148C>T p.Arg50Trp Missense 3/29 -
19-11215908-G-A LDLR c.326G>A p.Cys109Tyr Missense 4/18 -
19-11226873-A-C LDLR c.1690A>C p.Asn564His Missense 11/18 -
19-11216263-C-G LDLR c.681C>G p.Asp227Glu Missense 4/18 -
19-48543899-C-G CABP5 c.201G>C p.Met67Ile Missense 3/6 -
19-48543899-C-A CABP5 c.201G>T p.Met67Ile Missense 3/6 -
19-11213420-G-C LDLR c.271G>C p.Gly91Arg Missense 3/18 -
2-118864319-G-A INSIG2 c.376G>A p.Asp126Asn Missense 4/6 -
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
19-11226868-G-A LDLR c.1685G>A p.Trp562* Nonsense 11/18 -
10-90966334-T-G CH25H c.716A>C p.His239Pro Missense 1/1 -
14-93649961-G-T MOAP1 c.627C>A p.Ser209Arg Missense 3/3 -
14-93649961-G-C MOAP1 c.627C>G p.Ser209Arg Missense 3/3 -
11-125765239-A-G PUS3 c.824T>C p.Leu275Pro Missense 3/4 -
14-73572776-C-A RBM25 c.1364C>A p.Ala455Asp Missense 11/19 -
19-11227605-GGGG-G LDLR c.1776_1778delGGG p.Gly593delGly InFrameDeletion 12/18 -
10-90966460-G-T CH25H c.590C>A p.Pro197Gln Missense 1/1 -
14-24883887-G-A NYNRIN c.2932G>A p.Ala978Thr Missense 9/9 -
19-11223963-C-A LDLR c.1196C>A p.Ala399Asp Missense 9/18 -
7-66104163-G-A KCTD7 c.814G>A p.Val272Met Missense 4/4 -
14-64065801-T-C WDR89 c.860A>G p.Asp287Gly Missense 3/3 -
14-73563750-C-T RBM25 c.671C>T p.Ala224Val Missense 7/19 -
2-21229463-G-A APOB c.10277C>T p.Ala3426Val Missense 26/29 -
12-10602517-C-A KLRC1 c.333G>T p.Gln111His Missense 4/7 -
12-10602517-C-G KLRC1 c.333G>C p.Gln111His Missense 4/7 -
14-93650112-C-G MOAP1 c.476G>C p.Cys159Ser Missense 3/3 -
19-11222279-C-T LDLR c.1150C>T p.Gln384* Nonsense 8/18 -
14-93649669-T-C MOAP1 c.919A>G p.Ile307Val Missense 3/3 -
11-125766106-A-G PUS3 c.74T>C p.Val25Ala Missense 2/4 -
5-134223815-G-C TXNDC15 c.534G>C p.Glu178Asp Missense 2/5 -
5-134223815-G-T TXNDC15 c.534G>T p.Glu178Asp Missense 2/5 -